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 5 180687503 180687503 + Silent SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr5:180687503G>C c.312C>G c.(310-312)ctC>ctG p.L104L BRCA 5 180687096 180687096 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr5:180687096A>C c.719T>G c.(718-720)gTg>gGg p.V240G BRCA 5 180687133 180687133 + Missense_Mutation SNP A A C TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 g.chr5:180687133A>C c.682T>G c.(682-684)Ttt>Gtt p.F228V BRCA 5 180687271 180687271 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr5:180687271T>G c.544A>C c.(544-546)Acc>Ccc p.T182P CESC 5 180687439 180687439 + Nonsense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr5:180687439C>A c.376G>T c.(376-378)Gaa>Taa p.E126* CESC 5 180687567 180687567 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 g.chr5:180687567C>T c.248G>A c.(247-249)cGa>cAa p.R83Q COAD 5 180687036 180687036 + Missense_Mutation SNP A A G TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr5:180687036A>G c.779T>C c.(778-780)gTg>gCg p.V260A COAD 5 180687078 180687078 + Missense_Mutation SNP C C G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:180687078C>G c.737G>C c.(736-738)tGt>tCt p.C246S COAD 5 180687286 180687286 + Missense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr5:180687286G>T c.529C>A c.(529-531)Ctt>Att p.L177I COAD 5 180687422 180687422 + Missense_Mutation SNP A A C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr5:180687422A>C c.393T>G c.(391-393)gaT>gaG p.D131E COAD 5 180687440 180687440 + Silent SNP T T C TCGA-F4-6808-01A-11D-1835-10 TCGA-F4-6808-10A-01D-1835-10 g.chr5:180687440T>C c.375A>G c.(373-375)gaA>gaG p.E125E COAD 5 180687617 180687617 + Missense_Mutation SNP C C A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr5:180687617C>A c.198G>T c.(196-198)gaG>gaT p.E66D COADREAD 5 180687036 180687036 + Missense_Mutation SNP A A G TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr5:180687036A>G c.779T>C c.(778-780)gTg>gCg p.V260A COADREAD 5 180687078 180687078 + Missense_Mutation SNP C C G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:180687078C>G c.737G>C c.(736-738)tGt>tCt p.C246S COADREAD 5 180687262 180687262 + Nonsense_Mutation SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr5:180687262G>A c.553C>T c.(553-555)Cag>Tag p.Q185* COADREAD 5 180687286 180687286 + Missense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr5:180687286G>T c.529C>A c.(529-531)Ctt>Att p.L177I COADREAD 5 180687422 180687422 + Missense_Mutation SNP A A C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr5:180687422A>C c.393T>G c.(391-393)gaT>gaG p.D131E COADREAD 5 180687440 180687440 + Silent SNP T T C TCGA-F4-6808-01A-11D-1835-10 TCGA-F4-6808-10A-01D-1835-10 g.chr5:180687440T>C c.375A>G c.(373-375)gaA>gaG p.E125E COADREAD 5 180687617 180687617 + Missense_Mutation SNP C C A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr5:180687617C>A c.198G>T c.(196-198)gaG>gaT p.E66D ESCA 5 180687428 180687428 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 g.chr5:180687428C>T c.387G>A c.(385-387)gaG>gaA p.E129E ESCA 5 180687593 180687593 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr5:180687593G>T c.222C>A c.(220-222)gcC>gcA p.A74A ESCA 5 180687595 180687595 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 g.chr5:180687595C>T c.220G>A c.(220-222)Gcc>Acc p.A74T ESCA 5 180687602 180687602 + Silent SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 g.chr5:180687602C>T c.213G>A c.(211-213)gcG>gcA p.A71A GBM 5 180687305 180687305 + Silent SNP G G A TCGA-06-0237-01A-02D-1491-08 TCGA-06-0237-10A-01D-1491-08 g.chr5:180687305G>A c.510C>T c.(508-510)caC>caT p.H170H GBMLGG 5 180687093 180687093 + Missense_Mutation SNP T T C TCGA-E1-5303-01A-01D-1468-08 TCGA-E1-5303-10A-01D-1468-08 g.chr5:180687093T>C c.722A>G c.(721-723)gAc>gGc p.D241G GBMLGG 5 180687305 180687305 + Silent SNP G G A TCGA-06-0237-01A-02D-1491-08 TCGA-06-0237-10A-01D-1491-08 g.chr5:180687305G>A c.510C>T c.(508-510)caC>caT p.H170H HNSC 5 180687775 180687775 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 g.chr5:180687775G>A c.40C>T c.(40-42)Ctt>Ttt p.L14F KIPAN 5 180687083 180687083 + Silent SNP G G T TCGA-A4-7286-01A-11D-2136-08 TCGA-A4-7286-10A-01D-2136-08 g.chr5:180687083G>T c.732C>A c.(730-732)gcC>gcA p.A244A KIRP 5 180687083 180687083 + Silent SNP G G T TCGA-A4-7286-01A-11D-2136-08 TCGA-A4-7286-10A-01D-2136-08 g.chr5:180687083G>T c.732C>A c.(730-732)gcC>gcA p.A244A LGG 5 180687093 180687093 + Missense_Mutation SNP T T C TCGA-E1-5303-01A-01D-1468-08 TCGA-E1-5303-10A-01D-1468-08 g.chr5:180687093T>C c.722A>G c.(721-723)gAc>gGc p.D241G LIHC 5 180684462 180684462 + Missense_Mutation SNP G G T TCGA-LG-A6GG-01A-11D-A30V-10 TCGA-LG-A6GG-10A-01D-A30V-10 g.chr5:180684462G>T c.847C>A c.(847-849)Ctt>Att p.L283I LIHC 5 180687428 180687428 + Silent SNP C C T TCGA-EP-A12J-01A-11D-A12Z-10 TCGA-EP-A12J-10A-01D-A12Z-10 g.chr5:180687428C>T c.387G>A c.(385-387)gaG>gaA p.E129E LUAD 5 180687006 180687006 + Missense_Mutation SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 g.chr5:180687006T>C c.809A>G c.(808-810)tAc>tGc p.Y270C LUAD 5 180687616 180687616 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 g.chr5:180687616C>T c.199G>A c.(199-201)Gag>Aag p.E67K PAAD 5 180687720 180687720 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:180687720G>A c.95C>T c.(94-96)tCc>tTc p.S32F READ 5 180687262 180687262 + Nonsense_Mutation SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr5:180687262G>A c.553C>T c.(553-555)Cag>Tag p.Q185* SARC 5 180687743 180687746 + Frame_Shift_Del DEL CAAG CAAG - TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 g.chr5:180687743_180687746delCAAG c.69_72delCTTG c.(67-72)tgcttgfs p.CL23fs

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 5 180677047 180677047 single base substitution A T downstream_gene_variant BRCA-EU 5 180677493 180677493 single base substitution G A downstream_gene_variant BRCA-EU 5 180679618 180679618 single base substitution G A downstream_gene_variant BRCA-EU 5 180680639 180680639 single base substitution G T downstream_gene_variant BRCA-EU 5 180680715 180680715 single base substitution T G downstream_gene_variant BRCA-EU 5 180681963 180681963 single base substitution G A downstream_gene_variant BRCA-EU 5 180681963 180681963 single base substitution G A exon_variant BRCA-EU 5 180682737 180682737 single base substitution A G 3_prime_UTR_variant BRCA-EU 5 180682737 180682737 single base substitution A G downstream_gene_variant BRCA-EU 5 180682737 180682737 single base substitution A G intron_variant BRCA-EU 5 180683239 180683239 single base substitution C G 3_prime_UTR_variant BRCA-EU 5 180683239 180683239 single base substitution C G downstream_gene_variant BRCA-EU 5 180683239 180683239 single base substitution C G intron_variant BRCA-EU 5 180683903 180683903 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 5 180683903 180683903 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 180683903 180683903 deletion of <=200bp T - intron_variant BRCA-EU 5 180684966 180684966 single base substitution G C downstream_gene_variant BRCA-EU 5 180684966 180684966 single base substitution G C intron_variant BRCA-EU 5 180686091 180686091 single base substitution G A downstream_gene_variant BRCA-EU 5 180686091 180686091 single base substitution G A intron_variant BRCA-EU 5 180686620 180686620 single base substitution G A exon_variant BRCA-EU 5 180686620 180686620 single base substitution G A intron_variant BRCA-EU 5 180688599 180688599 single base substitution G A upstream_gene_variant BRCA-EU 5 180689608 180689608 single base substitution G T upstream_gene_variant BRCA-EU 5 180690502 180690502 single base substitution C T upstream_gene_variant BRCA-EU 5 180691004 180691004 single base substitution G A upstream_gene_variant BRCA-EU 5 180691096 180691096 single base substitution T G upstream_gene_variant BRCA-EU 5 180692859 180692859 single base substitution C G upstream_gene_variant BRCA-FR 5 180685176 180685176 single base substitution G A downstream_gene_variant BRCA-FR 5 180685176 180685176 single base substitution G A intron_variant BRCA-FR 5 180686091 180686091 single base substitution G A downstream_gene_variant BRCA-FR 5 180686091 180686091 single base substitution G A intron_variant BRCA-UK 5 180681963 180681963 single base substitution G A downstream_gene_variant BRCA-UK 5 180681963 180681963 single base substitution G A exon_variant BRCA-UK 5 180691244 180691244 single base substitution C A upstream_gene_variant BRCA-US 5 180687096 180687096 single base substitution A C exon_variant BRCA-US 5 180687096 180687096 single base substitution A C missense_variant V240G 719T>G BRCA-US 5 180687133 180687133 single base substitution A C exon_variant BRCA-US 5 180687133 180687133 single base substitution A C missense_variant F228V 682T>G BRCA-US 5 180687271 180687271 single base substitution T G exon_variant BRCA-US 5 180687271 180687271 single base substitution T G missense_variant T182P 544A>C BRCA-US 5 180687271 180687271 single base substitution T G upstream_gene_variant BTCA-JP 5 180684398 180684398 single base substitution C G 3_prime_UTR_variant BTCA-JP 5 180684398 180684398 single base substitution C G downstream_gene_variant BTCA-JP 5 180684398 180684398 single base substitution C G intron_variant BTCA-JP 5 180687104 180687104 single base substitution G A exon_variant BTCA-JP 5 180687104 180687104 single base substitution G A synonymous_variant F237F 711C>T CESC-US 5 180684379 180684379 single base substitution G A 3_prime_UTR_variant CESC-US 5 180684379 180684379 single base substitution G A downstream_gene_variant CESC-US 5 180684379 180684379 single base substitution G A intron_variant CESC-US 5 180684510 180684510 single base substitution A G downstream_gene_variant CESC-US 5 180684510 180684510 single base substitution A G intron_variant CESC-US 5 180687439 180687439 single base substitution C A exon_variant CESC-US 5 180687439 180687439 single base substitution C A stop_gained E126* 376G>T CESC-US 5 180687439 180687439 single base substitution C A upstream_gene_variant CESC-US 5 180687567 180687567 single base substitution C T exon_variant CESC-US 5 180687567 180687567 single base substitution C T missense_variant R83Q 248G>A CESC-US 5 180687567 180687567 single base substitution C T upstream_gene_variant CLLE-ES 5 180692750 180692750 single base substitution G T upstream_gene_variant COAD-US 5 180687078 180687078 single base substitution C G exon_variant COAD-US 5 180687078 180687078 single base substitution C G missense_variant C246S 737G>C COAD-US 5 180687212 180687212 single base substitution C T exon_variant COAD-US 5 180687212 180687212 single base substitution C T synonymous_variant L201L 603G>A COAD-US 5 180687212 180687212 single base substitution C T upstream_gene_variant COAD-US 5 180687429 180687431 deletion of <=200bp TCT - disruptive_inframe_deletion EE128E COAD-US 5 180687429 180687431 deletion of <=200bp TCT - exon_variant COAD-US 5 180687429 180687431 deletion of <=200bp TCT - upstream_gene_variant COAD-US 5 180687431 180687431 single base substitution T C exon_variant COAD-US 5 180687431 180687431 single base substitution T C synonymous_variant E128E 384A>G COAD-US 5 180687431 180687431 single base substitution T C upstream_gene_variant COAD-US 5 180687440 180687440 single base substitution T C exon_variant COAD-US 5 180687440 180687440 single base substitution T C synonymous_variant E125E 375A>G COAD-US 5 180687440 180687440 single base substitution T C upstream_gene_variant COAD-US 5 180687617 180687617 single base substitution C A exon_variant COAD-US 5 180687617 180687617 single base substitution C A missense_variant E66D 198G>T COAD-US 5 180687617 180687617 single base substitution C A upstream_gene_variant COCA-CN 5 180679653 180679653 single base substitution G A downstream_gene_variant COCA-CN 5 180684323 180684323 single base substitution A C 3_prime_UTR_variant COCA-CN 5 180684323 180684323 single base substitution A C downstream_gene_variant COCA-CN 5 180684323 180684323 single base substitution A C intron_variant COCA-CN 5 180686984 180686984 single base substitution T C intron_variant COCA-CN 5 180687233 180687233 single base substitution G T exon_variant COCA-CN 5 180687233 180687233 single base substitution G T missense_variant S194R 582C>A COCA-CN 5 180687233 180687233 single base substitution G T upstream_gene_variant COCA-CN 5 180687440 180687440 single base substitution T C exon_variant COCA-CN 5 180687440 180687440 single base substitution T C synonymous_variant E125E 375A>G COCA-CN 5 180687440 180687440 single base substitution T C upstream_gene_variant EOPC-DE 5 180678124 180678124 single base substitution A G downstream_gene_variant ESAD-UK 5 180676489 180676489 single base substitution C A downstream_gene_variant ESAD-UK 5 180677519 180677519 single base substitution G A downstream_gene_variant ESAD-UK 5 180678073 180678073 single base substitution T C downstream_gene_variant ESAD-UK 5 180678978 180678978 single base substitution C T downstream_gene_variant ESAD-UK 5 180682745 180682745 single base substitution C T 3_prime_UTR_variant ESAD-UK 5 180682745 180682745 single base substitution C T downstream_gene_variant ESAD-UK 5 180682745 180682745 single base substitution C T intron_variant ESAD-UK 5 180684215 180684215 single base substitution C T 3_prime_UTR_variant ESAD-UK 5 180684215 180684215 single base substitution C T downstream_gene_variant ESAD-UK 5 180684215 180684215 single base substitution C T intron_variant ESAD-UK 5 180684289 180684289 single base substitution C T 3_prime_UTR_variant ESAD-UK 5 180684289 180684289 single base substitution C T downstream_gene_variant ESAD-UK 5 180684289 180684289 single base substitution C T intron_variant ESAD-UK 5 180685024 180685024 deletion of <=200bp A - downstream_gene_variant ESAD-UK 5 180685024 180685024 deletion of <=200bp A - intron_variant GACA-CN 5 180687474 180687474 single base substitution C T exon_variant GACA-CN 5 180687474 180687474 single base substitution C T stop_gained W114* 341G>A GACA-CN 5 180687474 180687474 single base substitution C T upstream_gene_variant GBM-US 5 180687305 180687305 single base substitution G A exon_variant GBM-US 5 180687305 180687305 single base substitution G A synonymous_variant H170H 510C>T GBM-US 5 180687305 180687305 single base substitution G A upstream_gene_variant KIRP-US 5 180687083 180687083 single base substitution G T exon_variant KIRP-US 5 180687083 180687083 single base substitution G T synonymous_variant A244A 732C>A LAML-KR 5 180691907 180691907 single base substitution C T upstream_gene_variant LGG-US 5 180687093 180687093 single base substitution T C exon_variant LGG-US 5 180687093 180687093 single base substitution T C missense_variant D241G 722A>G LICA-FR 5 180678291 180678291 insertion of <=200bp - A downstream_gene_variant LIHC-US 5 180684462 180684462 single base substitution G T downstream_gene_variant LIHC-US 5 180684462 180684462 single base substitution G T intron_variant LIHC-US 5 180684462 180684462 single base substitution G T missense_variant L283I 847C>A LINC-JP 5 180678430 180678430 insertion of <=200bp - A downstream_gene_variant LINC-JP 5 180679120 180679120 single base substitution A C downstream_gene_variant LINC-JP 5 180679126 180679126 single base substitution A G downstream_gene_variant LINC-JP 5 180683903 180683903 deletion of <=200bp T - 3_prime_UTR_variant LINC-JP 5 180683903 180683903 deletion of <=200bp T - downstream_gene_variant LINC-JP 5 180683903 180683903 deletion of <=200bp T - intron_variant LINC-JP 5 180684464 180684464 single base substitution A G downstream_gene_variant LINC-JP 5 180684464 180684464 single base substitution A G intron_variant LINC-JP 5 180684464 180684464 single base substitution A G missense_variant I282T 845T>C LINC-JP 5 180684656 180684656 single base substitution A G downstream_gene_variant LINC-JP 5 180684656 180684656 single base substitution A G intron_variant LIRI-JP 5 180679704 180679704 single base substitution A C downstream_gene_variant LIRI-JP 5 180683118 180683118 single base substitution A T 3_prime_UTR_variant LIRI-JP 5 180683118 180683118 single base substitution A T downstream_gene_variant LIRI-JP 5 180683118 180683118 single base substitution A T intron_variant LIRI-JP 5 180684004 180684004 single base substitution G A 3_prime_UTR_variant LIRI-JP 5 180684004 180684004 single base substitution G A downstream_gene_variant LIRI-JP 5 180684004 180684004 single base substitution G A intron_variant LIRI-JP 5 180684610 180684610 single base substitution A G downstream_gene_variant LIRI-JP 5 180684610 180684610 single base substitution A G intron_variant LIRI-JP 5 180687440 180687440 single base substitution T C exon_variant LIRI-JP 5 180687440 180687440 single base substitution T C synonymous_variant E125E 375A>G LIRI-JP 5 180687440 180687440 single base substitution T C upstream_gene_variant LIRI-JP 5 180688786 180688786 single base substitution C T upstream_gene_variant LIRI-JP 5 180688947 180688947 single base substitution T C upstream_gene_variant LUSC-KR 5 180678327 180678327 single base substitution G C downstream_gene_variant LUSC-KR 5 180689737 180689737 single base substitution G T upstream_gene_variant LUSC-KR 5 180690510 180690510 single base substitution A G upstream_gene_variant MALY-DE 5 180681292 180681293 deletion of <=200bp AG - downstream_gene_variant MALY-DE 5 180684877 180684877 single base substitution G A downstream_gene_variant MALY-DE 5 180684877 180684877 single base substitution G A intron_variant MALY-DE 5 180687632 180687632 single base substitution A G exon_variant MALY-DE 5 180687632 180687632 single base substitution A G synonymous_variant D61D 183T>C MALY-DE 5 180687632 180687632 single base substitution A G upstream_gene_variant MALY-DE 5 180689150 180689150 single base substitution T C upstream_gene_variant MALY-DE 5 180693076 180693076 single base substitution C T upstream_gene_variant MELA-AU 5 180678357 180678357 single base substitution G T downstream_gene_variant MELA-AU 5 180679056 180679056 single base substitution C T downstream_gene_variant MELA-AU 5 180679326 180679326 single base substitution A G downstream_gene_variant MELA-AU 5 180682544 180682544 single base substitution A G 3_prime_UTR_variant MELA-AU 5 180682544 180682544 single base substitution A G downstream_gene_variant MELA-AU 5 180682544 180682544 single base substitution A G intron_variant MELA-AU 5 180684601 180684601 single base substitution T G downstream_gene_variant MELA-AU 5 180684601 180684601 single base substitution T G intron_variant MELA-AU 5 180685339 180685339 single base substitution C T downstream_gene_variant MELA-AU 5 180685339 180685339 single base substitution C T intron_variant MELA-AU 5 180686448 180686448 single base substitution G A exon_variant MELA-AU 5 180686448 180686448 single base substitution G A intron_variant MELA-AU 5 180686471 180686471 single base substitution G A exon_variant MELA-AU 5 180686471 180686471 single base substitution G A intron_variant MELA-AU 5 180687440 180687440 single base substitution T C exon_variant MELA-AU 5 180687440 180687440 single base substitution T C synonymous_variant E125E 375A>G MELA-AU 5 180687440 180687440 single base substitution T C upstream_gene_variant MELA-AU 5 180687575 180687575 single base substitution G A exon_variant MELA-AU 5 180687575 180687575 single base substitution G A synonymous_variant G80G 240C>T MELA-AU 5 180687575 180687575 single base substitution G A upstream_gene_variant MELA-AU 5 180687690 180687690 single base substitution C T exon_variant MELA-AU 5 180687690 180687690 single base substitution C T missense_variant G42E 125G>A MELA-AU 5 180687690 180687690 single base substitution C T upstream_gene_variant MELA-AU 5 180688202 180688202 single base substitution G A upstream_gene_variant MELA-AU 5 180688539 180688540 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 180689524 180689524 single base substitution C T upstream_gene_variant MELA-AU 5 180689838 180689839 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 180690739 180690739 single base substitution C T upstream_gene_variant MELA-AU 5 180691074 180691074 single base substitution C T upstream_gene_variant MELA-AU 5 180691111 180691111 single base substitution C T upstream_gene_variant MELA-AU 5 180691144 180691144 single base substitution C T upstream_gene_variant MELA-AU 5 180691522 180691522 single base substitution G A upstream_gene_variant MELA-AU 5 180692149 180692149 single base substitution C T upstream_gene_variant MELA-AU 5 180692173 180692173 single base substitution C T upstream_gene_variant MELA-AU 5 180692790 180692790 single base substitution G C upstream_gene_variant MELA-AU 5 180692899 180692899 single base substitution C T upstream_gene_variant OV-AU 5 180680429 180680429 single base substitution C G downstream_gene_variant OV-AU 5 180681372 180681372 single base substitution T C downstream_gene_variant PACA-AU 5 180683209 180683209 single base substitution G T 3_prime_UTR_variant PACA-AU 5 180683209 180683209 single base substitution G T downstream_gene_variant PACA-AU 5 180683209 180683209 single base substitution G T intron_variant PACA-AU 5 180683372 180683372 single base substitution A C 3_prime_UTR_variant PACA-AU 5 180683372 180683372 single base substitution A C downstream_gene_variant PACA-AU 5 180683372 180683372 single base substitution A C intron_variant PACA-AU 5 180687359 180687361 deletion of <=200bp TTC - exon_variant PACA-AU 5 180687359 180687361 deletion of <=200bp TTC - inframe_deletion E152 PACA-AU 5 180687359 180687361 deletion of <=200bp TTC - upstream_gene_variant PACA-AU 5 180688601 180688601 single base substitution G A upstream_gene_variant PACA-AU 5 180690760 180690760 single base substitution G A upstream_gene_variant PACA-AU 5 180692017 180692017 single base substitution C T upstream_gene_variant PACA-CA 5 180682652 180682652 insertion of <=200bp - T 3_prime_UTR_variant PACA-CA 5 180682652 180682652 insertion of <=200bp - T downstream_gene_variant PACA-CA 5 180682652 180682652 insertion of <=200bp - T intron_variant PACA-CA 5 180683103 180683103 single base substitution T C 3_prime_UTR_variant PACA-CA 5 180683103 180683103 single base substitution T C downstream_gene_variant PACA-CA 5 180683103 180683103 single base substitution T C intron_variant PACA-CA 5 180684515 180684515 insertion of <=200bp - T downstream_gene_variant PACA-CA 5 180684515 180684515 insertion of <=200bp - T intron_variant PACA-CA 5 180692542 180692542 single base substitution G A upstream_gene_variant PAEN-IT 5 180685826 180685826 single base substitution T C downstream_gene_variant PAEN-IT 5 180685826 180685826 single base substitution T C intron_variant PBCA-DE 5 180680095 180680095 insertion of <=200bp - AC downstream_gene_variant PBCA-DE 5 180680096 180680096 deletion of <=200bp T - downstream_gene_variant PBCA-DE 5 180681292 180681293 deletion of <=200bp AG - downstream_gene_variant PRAD-UK 5 180680003 180680003 single base substitution T C downstream_gene_variant PRAD-UK 5 180686641 180686641 single base substitution C G exon_variant PRAD-UK 5 180686641 180686641 single base substitution C G intron_variant PRAD-UK 5 180690399 180690399 single base substitution G C upstream_gene_variant PRAD-UK 5 180692296 180692296 single base substitution T G upstream_gene_variant READ-US 5 180687262 180687262 single base substitution G A exon_variant READ-US 5 180687262 180687262 single base substitution G A stop_gained Q185* 553C>T READ-US 5 180687262 180687262 single base substitution G A upstream_gene_variant RECA-EU 5 180692569 180692569 single base substitution G T upstream_gene_variant SKCA-BR 5 180684770 180684770 single base substitution A G downstream_gene_variant SKCA-BR 5 180684770 180684770 single base substitution A G intron_variant SKCA-BR 5 180688188 180688188 single base substitution C T upstream_gene_variant SKCA-BR 5 180688427 180688427 single base substitution T G upstream_gene_variant SKCA-BR 5 180688465 180688465 single base substitution T G upstream_gene_variant SKCA-BR 5 180688965 180688965 single base substitution A G upstream_gene_variant SKCA-BR 5 180689211 180689215 deletion of <=200bp GTTTT - upstream_gene_variant SKCA-BR 5 180690095 180690095 single base substitution T C upstream_gene_variant SKCA-BR 5 180693013 180693013 single base substitution C T upstream_gene_variant STAD-US 5 180687359 180687361 deletion of <=200bp TTC - exon_variant STAD-US 5 180687359 180687361 deletion of <=200bp TTC - inframe_deletion E152 STAD-US 5 180687359 180687361 deletion of <=200bp TTC - upstream_gene_variant STAD-US 5 180687440 180687440 single base substitution T C exon_variant STAD-US 5 180687440 180687440 single base substitution T C synonymous_variant E125E 375A>G STAD-US 5 180687440 180687440 single base substitution T C upstream_gene_variant STAD-US 5 180687467 180687467 single base substitution G A exon_variant STAD-US 5 180687467 180687467 single base substitution G A synonymous_variant N116N 348C>T STAD-US 5 180687467 180687467 single base substitution G A upstream_gene_variant STAD-US 5 180687728 180687728 single base substitution G A exon_variant STAD-US 5 180687728 180687728 single base substitution G A synonymous_variant D29D 87C>T STAD-US 5 180687728 180687728 single base substitution G A upstream_gene_variant THCA-US 5 180687578 180687578 single base substitution G C exon_variant THCA-US 5 180687578 180687578 single base substitution G C missense_variant D79E 237C>G THCA-US 5 180687578 180687578 single base substitution G C upstream_gene_variant UCEC-US 5 180687418 180687418 deletion of <=200bp C - exon_variant UCEC-US 5 180687418 180687418 deletion of <=200bp C - frameshift_variant D133 UCEC-US 5 180687418 180687418 deletion of <=200bp C - upstream_gene_variant UCEC-US 5 180687445 180687445 single base substitution C T exon_variant UCEC-US 5 180687445 180687445 single base substitution C T missense_variant E124K 370G>A UCEC-US 5 180687445 180687445 single base substitution C T upstream_gene_variant UCEC-US 5 180687617 180687617 single base substitution C A exon_variant UCEC-US 5 180687617 180687617 single base substitution C A missense_variant E66D 198G>T UCEC-US 5 180687617 180687617 single base substitution C A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-EK-A3GM-01 COSM4823233 c.248G>A p.R83Q Substitution - Missense 5:181260566-181260566 - 2492722 COSM5720526 c.243C>T p.S81S Substitution - coding silent 5:181260571-181260571 - HCC24T COSM1620190 c.845T>C p.I282T Substitution - Missense 5:181257463-181257463 - TCGA-BS-A0U9-01 COSM1066944 c.397delG p.D133fs*4 Deletion - Frameshift 5:181260417-181260417 - sysucc-1512T COSM1436781 c.375A>G p.E125E Substitution - coding silent 5:181260439-181260439 - TCGA-CM-5868-01 COSM1436781 c.375A>G p.E125E Substitution - coding silent 5:181260439-181260439 - UM-SCC-47 COSM4589993 c.384_386delAGA p.E130delE Deletion - In frame 5:181260428-181260430 - LS180 COSM3013143 c.732C>T p.A244A Substitution - coding silent 5:181260082-181260082 - TCGA-EI-6507-01 COSM1567740 c.553C>T p.Q185* Substitution - Nonsense 5:181260261-181260261 - 2492721 COSM5720526 c.243C>T p.S81S Substitution - coding silent 5:181260571-181260571 - UM-SCC-4 COSM4589993 c.384_386delAGA p.E130delE Deletion - In frame 5:181260428-181260430 - EGC3 COSM5061021 c.747C>T p.C249C Substitution - coding silent 5:181260067-181260067 - TCGA-AA-3662-01 COSM1436781 c.375A>G p.E125E Substitution - coding silent 5:181260439-181260439 - 587284 COSM1230356 c.664A>G p.N222D Substitution - Missense 5:181260150-181260150 - UM-SCC-11B COSM4589993 c.384_386delAGA p.E130delE Deletion - In frame 5:181260428-181260430 - ME011T COSM224293 c.793G>A p.E265K Substitution - Missense 5:181260021-181260021 - TCGA-A4-7286-01 COSM3994264 c.732C>A p.A244A Substitution - coding silent 5:181260082-181260082 - P84 COSM1736336 c.722A>G p.D241G Substitution - Missense 5:181260092-181260092 - TCGA-BR-6452-01 COSM3854475 c.87C>T p.D29D Substitution - coding silent 5:181260727-181260727 - TCGA-AM-5820-01 COSM3761181 c.603G>A p.L201L Substitution - coding silent 5:181260211-181260211 - LUAD-NYU1142 COSM369442 c.568T>G p.F190V Substitution - Missense 5:181260246-181260246 - TCGA-G4-6628-01 COSM1066946 c.198G>T p.E66D Substitution - Missense 5:181260616-181260616 - HX28T COSM1620190 c.845T>C p.I282T Substitution - Missense 5:181257463-181257463 - TCGA-D8-A1XW-01 COSM1486699 c.682T>G p.F228V Substitution - Missense 5:181260132-181260132 - Pat_41_B COSM5868353 c.214G>A p.V72M Substitution - Missense 5:181260600-181260600 - UM-SCC-2 COSM4589993 c.384_386delAGA p.E130delE Deletion - In frame 5:181260428-181260430 - T2269 COSM4736147 c.810C>G p.Y270* Substitution - Nonsense 5:181260004-181260004 - 51 COSM5016126 c.267delG p.N90fs*22 Deletion - Frameshift 5:181260547-181260547 - TCGA-AM-5820-01 COSM4589993 c.384_386delAGA p.E130delE Deletion - In frame 5:181260428-181260430 - 1255_T COSM3947357 c.467C>A p.A156E Substitution - Missense 5:181260347-181260347 - C089 COSM5543560 c.310C>T p.L104F Substitution - Missense 5:181260504-181260504 - WSU-HN12 COSM4589993 c.384_386delAGA p.E130delE Deletion - In frame 5:181260428-181260430 - LS174T COSM3013143 c.732C>T p.A244A Substitution - coding silent 5:181260082-181260082 - PTC-7C COSM3761181 c.603G>A p.L201L Substitution - coding silent 5:181260211-181260211 - WSU-HN30 COSM4589993 c.384_386delAGA p.E130delE Deletion - In frame 5:181260428-181260430 - Pat_41_A COSM5868354 c.201_203delGGA p.E67delE Deletion - In frame 5:181260611-181260613 - TCGA-AP-A059-01 COSM1066945 c.370G>A p.E124K Substitution - Missense 5:181260444-181260444 - BD202T COSM5501343 c.711C>T p.F237F Substitution - coding silent 5:181260103-181260103 - 07-058 COSM3736380 c.385_386delGA p.E129fs*13 Deletion - Frameshift 5:181260428-181260429 - UD-SCC-2 COSM4589993 c.384_386delAGA p.E130delE Deletion - In frame 5:181260428-181260430 - Pat_41_B COSM5868352 c.575G>A p.R192H Substitution - Missense 5:181260239-181260239 - TCGA-CH-5739-01 COSM3674424 c.528C>A p.P176P Substitution - coding silent 5:181260286-181260286 - U373 COSM4589993 c.384_386delAGA p.E130delE Deletion - In frame 5:181260428-181260430 - RK306_C01 COSM1436781 c.375A>G p.E125E Substitution - coding silent 5:181260439-181260439 - HCC24 COSM1620190 c.845T>C p.I282T Substitution - Missense 5:181257463-181257463 - WSU-HN8 COSM4589993 c.384_386delAGA p.E130delE Deletion - In frame 5:181260428-181260430 - 2492720 COSM5720526 c.243C>T p.S81S Substitution - coding silent 5:181260571-181260571 - TCGA-IR-A3LH-01 COSM4833506 c.376G>T p.E126* Substitution - Nonsense 5:181260438-181260438 - TCGA-CG-5723-01 COSM1436781 c.375A>G p.E125E Substitution - coding silent 5:181260439-181260439 - TCGA-BJ-A0ZB-01 COSM3373841 c.237C>G p.D79E Substitution - Missense 5:181260577-181260577 - HCA46 COSM224293 c.793G>A p.E265K Substitution - Missense 5:181260021-181260021 - TCGA-CM-5868-01 COSM1436780 c.384A>G p.E128E Substitution - coding silent 5:181260430-181260430 - A9 COSM5351186 c.369G>C p.E123D Substitution - Missense 5:181260445-181260445 - TCGA-D1-A0ZS-01 COSM1066946 c.198G>T p.E66D Substitution - Missense 5:181260616-181260616 - UPCI:SCC090 COSM4589993 c.384_386delAGA p.E130delE Deletion - In frame 5:181260428-181260430 - TCGA-06-0237-01 COSM3410202 c.510C>T p.H170H Substitution - coding silent 5:181260304-181260304 - SCC-15 COSM4589993 c.384_386delAGA p.E130delE Deletion - In frame 5:181260428-181260430 - 1019 COSM5730664 c.454_456delGAA p.E152delE Deletion - In frame 5:181260358-181260360 - ORL-48 COSM4589993 c.384_386delAGA p.E130delE Deletion - In frame 5:181260428-181260430 - T98G COSM4589993 c.384_386delAGA p.E130delE Deletion - In frame 5:181260428-181260430 - TCGA-CA-6717-01 COSM1436778 c.737G>C p.C246S Substitution - Missense 5:181260077-181260077 - TCGA-E1-5303-01 COSM1736336 c.722A>G p.D241G Substitution - Missense 5:181260092-181260092 - S02275 COSM5682876 c.241T>A p.S81T Substitution - Missense 5:181260573-181260573 - LN18 COSM4589993 c.384_386delAGA p.E130delE Deletion - In frame 5:181260428-181260430 - SNU-C2B COSM3013147 c.555G>A p.Q185Q Substitution - coding silent 5:181260259-181260259 - RK196_C01 COSM1436781 c.375A>G p.E125E Substitution - coding silent 5:181260439-181260439 - TCGA-LG-A6GG-01 COSM4939538 c.847C>A p.L283I Substitution - Missense 5:181257461-181257461 - I2L-P7-Tumor-Organoid COSM5356958 c.76T>A p.Y26N Substitution - Missense 5:181260738-181260738 - TCGA-A8-A0A6-01 COSM3827906 c.719T>G p.V240G Substitution - Missense 5:181260095-181260095 - TCGA-A8-A0A6-01 COSM3827907 c.544A>C p.T182P Substitution - Missense 5:181260270-181260270 - WSU-HN13 COSM4589993 c.384_386delAGA p.E130delE Deletion - In frame 5:181260428-181260430 - tumor_4115001 COSM5947574 c.183T>C p.D61D Substitution - coding silent 5:181260631-181260631 - T3024 COSM4736148 c.536G>T p.G179V Substitution - Missense 5:181260278-181260278 - 2492723 COSM5720526 c.243C>T p.S81S Substitution - coding silent 5:181260571-181260571 - 93VU147T COSM4589993 c.384_386delAGA p.E130delE Deletion - In frame 5:181260428-181260430 - GC6_T COSM146346 c.341G>A p.W114* Substitution - Nonsense 5:181260473-181260473 - TCGA-CG-5733-01 COSM3854474 c.348C>T p.N116N Substitution - coding silent 5:181260466-181260466 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.458412 5q35.3 2142785|dbSNP|BC007372|C/T|non-coding||1923|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.F228V c.682T>G 5 180687133 BRCA C A Missense p.E66D c.198G>T 5 180687617 UCEC C A Nonsense p.E69* c.205G>T 5 180687610 LUAD C - Frameshift p.D133Tfs*4 c.397delG 5 180687418 UCEC C T Missense p.E67K c.199G>A 5 180687616 LUAD G A Synonymous p.H170H c.510C>T 5 180687305 GBM G C Missense p.D79E c.237C>G 5 180687578 THCA T C Missense p.D241G c.722A>G 5 180687093 LGG