Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 8 22447189 22447189 + Missense_Mutation SNP G G A TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr8:22447189G>A c.698G>A c.(697-699)cGg>cAg p.R233Q BLCA 8 22438123 22438123 + Silent SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 g.chr8:22438123G>A c.6G>A c.(4-6)gcG>gcA p.A2A BLCA 8 22442536 22442536 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr8:22442536G>C c.322G>C c.(322-324)Gtg>Ctg p.V108L BLCA 8 22442667 22442667 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 g.chr8:22442667C>T c.453C>T c.(451-453)atC>atT p.I151I BLCA 8 22442884 22442884 + Missense_Mutation SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr8:22442884C>G c.512C>G c.(511-513)tCc>tGc p.S171C BLCA 8 22452129 22452129 + IGR SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 g.chr8:22452129G>A CESC 8 22447189 22447189 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 g.chr8:22447189G>A c.698G>A c.(697-699)cGg>cAg p.R233Q COAD 8 22438969 22438969 + Silent SNP G G A TCGA-AA-3955-01A-02W-0995-10 TCGA-AA-3955-10A-01W-0995-10 g.chr8:22438969G>A c.171G>A c.(169-171)gcG>gcA p.A57A COAD 8 22442907 22442907 + Nonsense_Mutation SNP C C T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr8:22442907C>T c.535C>T c.(535-537)Cga>Tga p.R179* COAD 8 22451280 22451280 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr8:22451280C>T c.916C>T c.(916-918)Cgc>Tgc p.R306C COAD 8 22451285 22451285 + Frame_Shift_Del DEL C C - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr8:22451285delC c.921delC c.(919-921)cacfs p.H307fs COAD 8 22451336 22451336 + Silent SNP G G A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr8:22451336G>A c.972G>A c.(970-972)ggG>ggA p.G324G COADREAD 8 22438969 22438969 + Silent SNP G G A TCGA-AA-3955-01A-02W-0995-10 TCGA-AA-3955-10A-01W-0995-10 g.chr8:22438969G>A c.171G>A c.(169-171)gcG>gcA p.A57A COADREAD 8 22442907 22442907 + Nonsense_Mutation SNP C C T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr8:22442907C>T c.535C>T c.(535-537)Cga>Tga p.R179* COADREAD 8 22451280 22451280 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr8:22451280C>T c.916C>T c.(916-918)Cgc>Tgc p.R306C COADREAD 8 22451285 22451285 + Frame_Shift_Del DEL C C - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr8:22451285delC c.921delC c.(919-921)cacfs p.H307fs COADREAD 8 22451336 22451336 + Silent SNP G G A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr8:22451336G>A c.972G>A c.(970-972)ggG>ggA p.G324G COADREAD 8 22451342 22451342 + Missense_Mutation SNP C C G TCGA-AG-A01W-01A-21W-A096-10 TCGA-AG-A01W-11A-11W-A096-10 g.chr8:22451342C>G c.978C>G c.(976-978)ttC>ttG p.F326L DLBC 8 22442908 22442908 + Missense_Mutation SNP G G A TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr8:22442908G>A c.536G>A c.(535-537)cGa>cAa p.R179Q ESCA 8 22439044 22439044 + Splice_Site SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 g.chr8:22439044G>T c.e3+1 ESCA 8 22442382 22442382 + Missense_Mutation SNP A A T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr8:22442382A>T c.294A>T c.(292-294)gaA>gaT p.E98D ESCA 8 22442538 22442538 + Silent SNP G G T TCGA-V5-A7RC-01B-11D-A403-09 TCGA-V5-A7RC-10A-01D-A403-09 g.chr8:22442538G>T c.324G>T c.(322-324)gtG>gtT p.V108V ESCA 8 22442854 22442854 + Missense_Mutation SNP C C A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 g.chr8:22442854C>A c.482C>A c.(481-483)tCc>tAc p.S161Y ESCA 8 22447194 22447195 + Frame_Shift_Ins INS - - C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr8:22447194_22447195insC c.703_704insC c.(703-705)gccfs p.A235fs ESCA 8 22451274 22451274 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 g.chr8:22451274C>T c.910C>T c.(910-912)Cgg>Tgg p.R304W HNSC 8 22438929 22438929 + Missense_Mutation SNP G G A TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 g.chr8:22438929G>A c.131G>A c.(130-132)cGg>cAg p.R44Q HNSC 8 22438988 22438988 + Missense_Mutation SNP G G C TCGA-BB-4223-01A-01D-1434-08 TCGA-BB-4223-10A-01D-1434-08 g.chr8:22438988G>C c.190G>C c.(190-192)Gag>Cag p.E64Q HNSC 8 22442530 22442530 + Splice_Site SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 g.chr8:22442530G>A c.316G>A c.(316-318)Ggc>Agc p.G106S HNSC 8 22449070 22449070 + Missense_Mutation SNP C C T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 g.chr8:22449070C>T c.770C>T c.(769-771)aCg>aTg p.T257M KIPAN 8 22442384 22442384 + Missense_Mutation SNP T T C TCGA-2Z-A9JK-01A-11D-A42J-10 TCGA-2Z-A9JK-10A-01D-A42M-10 g.chr8:22442384T>C c.296T>C c.(295-297)gTg>gCg p.V99A KIPAN 8 22452072 22452072 + IGR SNP A A T TCGA-CZ-5465-01A-01D-1806-10 TCGA-CZ-5465-11A-01D-1501-10 g.chr8:22452072A>T KIPAN 8 22452077 22452077 + IGR SNP C C T TCGA-BQ-5884-01A-11D-1589-08 TCGA-BQ-5884-11A-01D-1589-08 g.chr8:22452077C>T KIRC 8 22452072 22452072 + IGR SNP A A T TCGA-CZ-5465-01A-01D-1806-10 TCGA-CZ-5465-11A-01D-1501-10 g.chr8:22452072A>T KIRP 8 22442384 22442384 + Missense_Mutation SNP T T C TCGA-2Z-A9JK-01A-11D-A42J-10 TCGA-2Z-A9JK-10A-01D-A42M-10 g.chr8:22442384T>C c.296T>C c.(295-297)gTg>gCg p.V99A KIRP 8 22452077 22452077 + IGR SNP C C T TCGA-BQ-5884-01A-11D-1589-08 TCGA-BQ-5884-11A-01D-1589-08 g.chr8:22452077C>T LIHC 8 22438952 22438952 + Missense_Mutation SNP A A G TCGA-BC-A112-01A-11D-A12Z-10 TCGA-BC-A112-11A-11D-A12Z-10 g.chr8:22438952A>G c.154A>G c.(154-156)Atc>Gtc p.I52V LIHC 8 22442575 22442575 + Missense_Mutation SNP T T A TCGA-DD-A4NI-01A-11D-A27I-10 TCGA-DD-A4NI-10A-01D-A27I-10 g.chr8:22442575T>A c.361T>A c.(361-363)Tcc>Acc p.S121T LIHC 8 22451394 22451394 + Missense_Mutation SNP G G T TCGA-DD-AACW-01A-11D-A40R-10 TCGA-DD-AACW-10A-01D-A40U-10 g.chr8:22451394G>T c.1030G>T c.(1030-1032)Gca>Tca p.A344S LIHC 8 22452076 22452076 + IGR SNP T T C TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr8:22452076T>C LUAD 8 22439036 22439036 + Silent SNP C C T TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr8:22439036C>T c.238C>T c.(238-240)Ctg>Ttg p.L80L LUAD 8 22442336 22442336 + Missense_Mutation SNP C C G TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 g.chr8:22442336C>G c.248C>G c.(247-249)tCt>tGt p.S83C LUAD 8 22442594 22442594 + Missense_Mutation SNP C C T TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 g.chr8:22442594C>T c.380C>T c.(379-381)tCc>tTc p.S127F LUAD 8 22442667 22442667 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr8:22442667C>G c.453C>G c.(451-453)atC>atG p.I151M LUAD 8 22449117 22449117 + Missense_Mutation SNP G G T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 g.chr8:22449117G>T c.817G>T c.(817-819)Gcc>Tcc p.A273S OV 8 22442878 22442878 + Missense_Mutation SNP G G C TCGA-23-2647-01A-01D-1526-09 TCGA-23-2647-10A-01D-1526-09 g.chr8:22442878G>C c.506G>C c.(505-507)cGc>cCc p.R169P PAAD 8 22439020 22439020 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr8:22439020G>A c.222G>A c.(220-222)tcG>tcA p.S74S READ 8 22451342 22451342 + Missense_Mutation SNP C C G TCGA-AG-A01W-01A-21W-A096-10 TCGA-AG-A01W-11A-11W-A096-10 g.chr8:22451342C>G c.978C>G c.(976-978)ttC>ttG p.F326L SARC 8 22447119 22447119 + Missense_Mutation SNP G G A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 g.chr8:22447119G>A c.628G>A c.(628-630)Gaa>Aaa p.E210K SARC 8 22451416 22451416 + Missense_Mutation SNP G G A TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 g.chr8:22451416G>A c.1052G>A c.(1051-1053)cGg>cAg p.R351Q SKCM 8 22442594 22442594 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr8:22442594C>T c.380C>T c.(379-381)tCc>tTc p.S127F SKCM 8 22442600 22442600 + Missense_Mutation SNP G G A TCGA-D3-A3MU-06A-11D-A21A-08 TCGA-D3-A3MU-10A-01D-A21A-08 g.chr8:22442600G>A c.386G>A c.(385-387)aGc>aAc p.S129N SKCM 8 22442629 22442629 + Missense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr8:22442629C>T c.415C>T c.(415-417)Cca>Tca p.P139S SKCM 8 22442633 22442633 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr8:22442633C>T c.419C>T c.(418-420)cCc>cTc p.P140L SKCM 8 22442865 22442865 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr8:22442865C>T c.493C>T c.(493-495)Ccc>Tcc p.P165S SKCM 8 22451334 22451334 + Missense_Mutation SNP G G A TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr8:22451334G>A c.970G>A c.(970-972)Ggg>Agg p.G324R SKCM 8 22451335 22451335 + Missense_Mutation SNP G G A TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr8:22451335G>A c.971G>A c.(970-972)gGg>gAg p.G324E

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation AML-US 8 22447181 22447181 single base substitution C T 3_prime_UTR_variant AML-US 8 22447181 22447181 single base substitution C T downstream_gene_variant AML-US 8 22447181 22447181 single base substitution C T exon_variant AML-US 8 22447181 22447181 single base substitution C T synonymous_variant R230R 690C>T AML-US 8 22447181 22447181 single base substitution C T synonymous_variant R480R 1440C>T BLCA-CN 8 22460103 22460103 single base substitution G A downstream_gene_variant BLCA-US 8 22442667 22442667 single base substitution C T 3_prime_UTR_variant BLCA-US 8 22442667 22442667 single base substitution C T exon_variant BLCA-US 8 22442667 22442667 single base substitution C T synonymous_variant I151I 453C>T BLCA-US 8 22442667 22442667 single base substitution C T synonymous_variant I401I 1203C>T BLCA-US 8 22442667 22442667 single base substitution C T upstream_gene_variant BLCA-US 8 22442884 22442884 single base substitution C G 3_prime_UTR_variant BLCA-US 8 22442884 22442884 single base substitution C G downstream_gene_variant BLCA-US 8 22442884 22442884 single base substitution C G exon_variant BLCA-US 8 22442884 22442884 single base substitution C G missense_variant S171C 512C>G BLCA-US 8 22442884 22442884 single base substitution C G missense_variant S421C 1262C>G BLCA-US 8 22442884 22442884 single base substitution C G upstream_gene_variant BLCA-US 8 22459311 22459311 single base substitution G C downstream_gene_variant BOCA-FR 8 22448046 22448046 single base substitution A G downstream_gene_variant BOCA-FR 8 22448046 22448046 single base substitution A G intron_variant BOCA-FR 8 22449570 22449570 single base substitution T A downstream_gene_variant BOCA-FR 8 22449570 22449570 single base substitution T A intron_variant BRCA-EU 8 22432599 22432602 deletion of <=200bp GCCC - upstream_gene_variant BRCA-EU 8 22434316 22434316 single base substitution G A upstream_gene_variant BRCA-EU 8 22436079 22436079 single base substitution C T intron_variant BRCA-EU 8 22436079 22436079 single base substitution C T upstream_gene_variant BRCA-EU 8 22436155 22436155 single base substitution C T intron_variant BRCA-EU 8 22436155 22436155 single base substitution C T upstream_gene_variant BRCA-EU 8 22437342 22437342 single base substitution C T intron_variant BRCA-EU 8 22437342 22437342 single base substitution C T upstream_gene_variant BRCA-EU 8 22438563 22438563 single base substitution G A 3_prime_UTR_variant BRCA-EU 8 22438563 22438563 single base substitution G A intron_variant BRCA-EU 8 22438563 22438563 single base substitution G A upstream_gene_variant BRCA-EU 8 22438564 22438564 single base substitution G T 3_prime_UTR_variant BRCA-EU 8 22438564 22438564 single base substitution G T intron_variant BRCA-EU 8 22438564 22438564 single base substitution G T upstream_gene_variant BRCA-EU 8 22440636 22440636 single base substitution G A intron_variant BRCA-EU 8 22440636 22440636 single base substitution G A upstream_gene_variant BRCA-EU 8 22440664 22440664 single base substitution C T intron_variant BRCA-EU 8 22440664 22440664 single base substitution C T upstream_gene_variant BRCA-EU 8 22440679 22440679 single base substitution C T intron_variant BRCA-EU 8 22440679 22440679 single base substitution C T upstream_gene_variant BRCA-EU 8 22441480 22441480 single base substitution C T intron_variant BRCA-EU 8 22441480 22441480 single base substitution C T upstream_gene_variant BRCA-EU 8 22441991 22441991 deletion of <=200bp A - intron_variant BRCA-EU 8 22441991 22441991 deletion of <=200bp A - upstream_gene_variant BRCA-EU 8 22442952 22442952 single base substitution G A downstream_gene_variant BRCA-EU 8 22442952 22442952 single base substitution G A exon_variant BRCA-EU 8 22442952 22442952 single base substitution G A intron_variant BRCA-EU 8 22442952 22442952 single base substitution G A upstream_gene_variant BRCA-EU 8 22444065 22444065 single base substitution G A downstream_gene_variant BRCA-EU 8 22444065 22444065 single base substitution G A intron_variant BRCA-EU 8 22444065 22444065 single base substitution G A upstream_gene_variant BRCA-EU 8 22444597 22444597 single base substitution G T downstream_gene_variant BRCA-EU 8 22444597 22444597 single base substitution G T intron_variant BRCA-EU 8 22444597 22444597 single base substitution G T upstream_gene_variant BRCA-EU 8 22448479 22448479 single base substitution G A downstream_gene_variant BRCA-EU 8 22448479 22448479 single base substitution G A intron_variant BRCA-EU 8 22452289 22452289 deletion of <=200bp G - 3_prime_UTR_variant BRCA-EU 8 22452289 22452289 deletion of <=200bp G - downstream_gene_variant BRCA-EU 8 22452898 22452898 single base substitution T G 3_prime_UTR_variant BRCA-EU 8 22452898 22452898 single base substitution T G downstream_gene_variant BRCA-EU 8 22453569 22453569 single base substitution A G 3_prime_UTR_variant BRCA-EU 8 22453569 22453569 single base substitution A G downstream_gene_variant BRCA-EU 8 22454956 22454956 single base substitution G T 3_prime_UTR_variant BRCA-EU 8 22454956 22454956 single base substitution G T downstream_gene_variant BRCA-EU 8 22455847 22455847 single base substitution C T downstream_gene_variant BRCA-EU 8 22455880 22455880 single base substitution A T downstream_gene_variant BRCA-EU 8 22458896 22458896 single base substitution T G downstream_gene_variant BRCA-EU 8 22459169 22459169 single base substitution G C downstream_gene_variant BRCA-EU 8 22459798 22459798 single base substitution C A downstream_gene_variant BRCA-FR 8 22452898 22452898 single base substitution T G 3_prime_UTR_variant BRCA-FR 8 22452898 22452898 single base substitution T G downstream_gene_variant BRCA-UK 8 22453569 22453569 single base substitution A G 3_prime_UTR_variant BRCA-UK 8 22453569 22453569 single base substitution A G downstream_gene_variant BRCA-US 8 22451688 22451688 single base substitution G C 3_prime_UTR_variant BRCA-US 8 22451688 22451688 single base substitution G C downstream_gene_variant BRCA-US 8 22451688 22451688 single base substitution G C exon_variant BRCA-US 8 22451688 22451688 single base substitution G C intron_variant BRCA-US 8 22458455 22458455 single base substitution G A downstream_gene_variant BRCA-US 8 22459837 22459837 single base substitution G T downstream_gene_variant BTCA-JP 8 22447378 22447378 single base substitution G A downstream_gene_variant BTCA-JP 8 22447378 22447378 single base substitution G A intron_variant CESC-US 8 22447189 22447189 single base substitution G A 3_prime_UTR_variant CESC-US 8 22447189 22447189 single base substitution G A downstream_gene_variant CESC-US 8 22447189 22447189 single base substitution G A exon_variant CESC-US 8 22447189 22447189 single base substitution G A missense_variant R233Q 698G>A CESC-US 8 22447189 22447189 single base substitution G A missense_variant R483Q 1448G>A CESC-US 8 22458791 22458791 single base substitution G A downstream_gene_variant CESC-US 8 22460053 22460053 single base substitution G A downstream_gene_variant CLLE-ES 8 22448256 22448256 single base substitution T G downstream_gene_variant CLLE-ES 8 22448256 22448256 single base substitution T G intron_variant CLLE-ES 8 22459607 22459607 single base substitution G A downstream_gene_variant COAD-US 8 22442661 22442661 single base substitution A G 3_prime_UTR_variant COAD-US 8 22442661 22442661 single base substitution A G exon_variant COAD-US 8 22442661 22442661 single base substitution A G synonymous_variant A149A 447A>G COAD-US 8 22442661 22442661 single base substitution A G synonymous_variant A399A 1197A>G COAD-US 8 22442661 22442661 single base substitution A G upstream_gene_variant COAD-US 8 22451280 22451280 single base substitution C T downstream_gene_variant COAD-US 8 22451280 22451280 single base substitution C T exon_variant COAD-US 8 22451280 22451280 single base substitution C T missense_variant R306C 916C>T COAD-US 8 22451280 22451280 single base substitution C T missense_variant R556C 1666C>T COAD-US 8 22451280 22451280 single base substitution C T synonymous_variant T266T 798C>T COAD-US 8 22451285 22451285 deletion of <=200bp C - downstream_gene_variant COAD-US 8 22451285 22451285 deletion of <=200bp C - exon_variant COAD-US 8 22451285 22451285 deletion of <=200bp C - frameshift_variant H307 COAD-US 8 22451285 22451285 deletion of <=200bp C - frameshift_variant H557 COAD-US 8 22451285 22451285 deletion of <=200bp C - frameshift_variant T268 COAD-US 8 22458469 22458469 single base substitution G A downstream_gene_variant COAD-US 8 22458501 22458501 single base substitution T C downstream_gene_variant COAD-US 8 22459488 22459488 single base substitution C T downstream_gene_variant COCA-CN 8 22430869 22430869 single base substitution A G upstream_gene_variant COCA-CN 8 22435152 22435152 single base substitution T C upstream_gene_variant COCA-CN 8 22436724 22436724 single base substitution T G 5_prime_UTR_variant COCA-CN 8 22436724 22436724 single base substitution T G intron_variant COCA-CN 8 22436724 22436724 single base substitution T G splice_donor_variant COCA-CN 8 22436724 22436724 single base substitution T G synonymous_variant G144G 432T>G COCA-CN 8 22436724 22436724 single base substitution T G upstream_gene_variant COCA-CN 8 22438313 22438313 single base substitution T C intron_variant COCA-CN 8 22438313 22438313 single base substitution T C upstream_gene_variant COCA-CN 8 22452109 22452109 single base substitution G A downstream_gene_variant COCA-CN 8 22452109 22452109 single base substitution G A missense_variant A350T 1048G>A COCA-CN 8 22458660 22458660 single base substitution C T downstream_gene_variant COCA-CN 8 22458824 22458824 single base substitution C T downstream_gene_variant COCA-CN 8 22459813 22459813 single base substitution C A downstream_gene_variant ESAD-UK 8 22431684 22431684 insertion of <=200bp - C upstream_gene_variant ESAD-UK 8 22431851 22431851 single base substitution C A upstream_gene_variant ESAD-UK 8 22432010 22432010 single base substitution T G upstream_gene_variant ESAD-UK 8 22433585 22433585 single base substitution G C upstream_gene_variant ESAD-UK 8 22435306 22435306 single base substitution C T upstream_gene_variant ESAD-UK 8 22436519 22436519 single base substitution C A intron_variant ESAD-UK 8 22436519 22436519 single base substitution C A missense_variant P76Q 227C>A ESAD-UK 8 22436519 22436519 single base substitution C A upstream_gene_variant ESAD-UK 8 22437573 22437573 single base substitution C T intron_variant ESAD-UK 8 22437573 22437573 single base substitution C T upstream_gene_variant ESAD-UK 8 22441999 22441999 single base substitution A T intron_variant ESAD-UK 8 22441999 22441999 single base substitution A T upstream_gene_variant ESAD-UK 8 22442176 22442176 single base substitution C T intron_variant ESAD-UK 8 22442176 22442176 single base substitution C T upstream_gene_variant ESAD-UK 8 22446154 22446154 single base substitution A G downstream_gene_variant ESAD-UK 8 22446154 22446154 single base substitution A G exon_variant ESAD-UK 8 22446154 22446154 single base substitution A G intron_variant ESAD-UK 8 22446154 22446154 single base substitution A G upstream_gene_variant ESAD-UK 8 22449070 22449070 single base substitution C T downstream_gene_variant ESAD-UK 8 22449070 22449070 single base substitution C T exon_variant ESAD-UK 8 22449070 22449070 single base substitution C T intron_variant ESAD-UK 8 22449070 22449070 single base substitution C T missense_variant T257M 770C>T ESAD-UK 8 22449070 22449070 single base substitution C T missense_variant T507M 1520C>T ESAD-UK 8 22450334 22450334 single base substitution C T downstream_gene_variant ESAD-UK 8 22450334 22450334 single base substitution C T intron_variant ESAD-UK 8 22452906 22452906 single base substitution A G 3_prime_UTR_variant ESAD-UK 8 22452906 22452906 single base substitution A G downstream_gene_variant ESAD-UK 8 22457267 22457267 single base substitution G T downstream_gene_variant ESAD-UK 8 22459494 22459496 deletion of <=200bp GAG - downstream_gene_variant ESCA-CN 8 22458641 22458641 single base substitution C G downstream_gene_variant ESCA-CN 8 22459308 22459308 single base substitution G A downstream_gene_variant GBM-US 8 22458597 22458597 single base substitution C T downstream_gene_variant KIRC-US 8 22452072 22452072 single base substitution A T downstream_gene_variant KIRC-US 8 22452072 22452072 single base substitution A T missense_variant R337S 1011A>T KIRP-US 8 22452077 22452077 single base substitution C T downstream_gene_variant KIRP-US 8 22452077 22452077 single base substitution C T missense_variant S339L 1016C>T LAML-KR 8 22442287 22442287 single base substitution A G intron_variant LAML-KR 8 22442287 22442287 single base substitution A G upstream_gene_variant LAML-KR 8 22442661 22442661 single base substitution A G 3_prime_UTR_variant LAML-KR 8 22442661 22442661 single base substitution A G exon_variant LAML-KR 8 22442661 22442661 single base substitution A G synonymous_variant A149A 447A>G LAML-KR 8 22442661 22442661 single base substitution A G synonymous_variant A399A 1197A>G LAML-KR 8 22442661 22442661 single base substitution A G upstream_gene_variant LAML-KR 8 22457258 22457258 single base substitution G A downstream_gene_variant LICA-CN 8 22447212 22447212 single base substitution T G 3_prime_UTR_variant LICA-CN 8 22447212 22447212 single base substitution T G downstream_gene_variant LICA-CN 8 22447212 22447212 single base substitution T G exon_variant LICA-CN 8 22447212 22447212 single base substitution T G missense_variant S241A 721T>G LICA-CN 8 22447212 22447212 single base substitution T G missense_variant S491A 1471T>G LICA-FR 8 22441684 22441684 insertion of <=200bp - T intron_variant LICA-FR 8 22441684 22441684 insertion of <=200bp - T upstream_gene_variant LICA-FR 8 22442430 22442430 single base substitution C T intron_variant LICA-FR 8 22442430 22442430 single base substitution C T upstream_gene_variant LICA-FR 8 22445359 22445359 single base substitution G T downstream_gene_variant LICA-FR 8 22445359 22445359 single base substitution G T intron_variant LICA-FR 8 22445359 22445359 single base substitution G T upstream_gene_variant LICA-FR 8 22451091 22451097 deletion of <=200bp AAAAAAA - downstream_gene_variant LICA-FR 8 22451091 22451097 deletion of <=200bp AAAAAAA - intron_variant LIHC-US 8 22438952 22438952 single base substitution A G 3_prime_UTR_variant LIHC-US 8 22438952 22438952 single base substitution A G missense_variant I302V 904A>G LIHC-US 8 22438952 22438952 single base substitution A G missense_variant I52V 154A>G LIHC-US 8 22438952 22438952 single base substitution A G upstream_gene_variant LIHC-US 8 22442575 22442575 single base substitution T A 3_prime_UTR_variant LIHC-US 8 22442575 22442575 single base substitution T A exon_variant LIHC-US 8 22442575 22442575 single base substitution T A missense_variant S121T 361T>A LIHC-US 8 22442575 22442575 single base substitution T A missense_variant S371T 1111T>A LIHC-US 8 22442575 22442575 single base substitution T A upstream_gene_variant LIHC-US 8 22458617 22458617 single base substitution A G downstream_gene_variant LINC-JP 8 22436590 22436590 single base substitution C A intron_variant LINC-JP 8 22436590 22436590 single base substitution C A missense_variant P100T 298C>A LINC-JP 8 22436590 22436590 single base substitution C A upstream_gene_variant LINC-JP 8 22445989 22445989 single base substitution T G downstream_gene_variant LINC-JP 8 22445989 22445989 single base substitution T G exon_variant LINC-JP 8 22445989 22445989 single base substitution T G intron_variant LINC-JP 8 22445989 22445989 single base substitution T G upstream_gene_variant LINC-JP 8 22457290 22457290 single base substitution C A downstream_gene_variant LIRI-JP 8 22432912 22432912 single base substitution A T upstream_gene_variant LIRI-JP 8 22450756 22450756 single base substitution G A downstream_gene_variant LIRI-JP 8 22450756 22450756 single base substitution G A intron_variant LIRI-JP 8 22450809 22450809 single base substitution G T downstream_gene_variant LIRI-JP 8 22450809 22450809 single base substitution G T intron_variant LIRI-JP 8 22452963 22452963 single base substitution T C 3_prime_UTR_variant LIRI-JP 8 22452963 22452963 single base substitution T C downstream_gene_variant LIRI-JP 8 22453586 22453586 single base substitution G A 3_prime_UTR_variant LIRI-JP 8 22453586 22453586 single base substitution G A downstream_gene_variant LIRI-JP 8 22454305 22454305 single base substitution A G 3_prime_UTR_variant LIRI-JP 8 22454305 22454305 single base substitution A G downstream_gene_variant LIRI-JP 8 22459976 22459976 single base substitution C T downstream_gene_variant LIRI-JP 8 22460210 22460210 single base substitution G A downstream_gene_variant LUSC-KR 8 22432377 22432377 single base substitution C A upstream_gene_variant LUSC-KR 8 22444394 22444394 single base substitution C A downstream_gene_variant LUSC-KR 8 22444394 22444394 single base substitution C A intron_variant LUSC-KR 8 22444394 22444394 single base substitution C A upstream_gene_variant LUSC-KR 8 22444577 22444577 single base substitution C T downstream_gene_variant LUSC-KR 8 22444577 22444577 single base substitution C T intron_variant LUSC-KR 8 22444577 22444577 single base substitution C T upstream_gene_variant LUSC-KR 8 22446837 22446837 single base substitution G T 3_prime_UTR_variant LUSC-KR 8 22446837 22446837 single base substitution G T downstream_gene_variant LUSC-KR 8 22446837 22446837 single base substitution G T exon_variant LUSC-KR 8 22446837 22446837 single base substitution G T intron_variant LUSC-KR 8 22446837 22446837 single base substitution G T synonymous_variant S189S 567G>T LUSC-KR 8 22446837 22446837 single base substitution G T synonymous_variant S439S 1317G>T LUSC-US 8 22432219 22432219 single base substitution G T upstream_gene_variant LUSC-US 8 22458472 22458472 single base substitution G T downstream_gene_variant MALY-DE 8 22431014 22431014 single base substitution C T upstream_gene_variant MALY-DE 8 22435990 22435990 single base substitution C T intron_variant MALY-DE 8 22435990 22435990 single base substitution C T upstream_gene_variant MALY-DE 8 22436829 22436829 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MALY-DE 8 22436829 22436829 single base substitution C T intron_variant MALY-DE 8 22436829 22436829 single base substitution C T synonymous_variant L179L 537C>T MALY-DE 8 22436829 22436829 single base substitution C T upstream_gene_variant MALY-DE 8 22440834 22440834 single base substitution G T intron_variant MALY-DE 8 22440834 22440834 single base substitution G T upstream_gene_variant MALY-DE 8 22442906 22442906 single base substitution C T 3_prime_UTR_variant MALY-DE 8 22442906 22442906 single base substitution C T downstream_gene_variant MALY-DE 8 22442906 22442906 single base substitution C T exon_variant MALY-DE 8 22442906 22442906 single base substitution C T synonymous_variant S178S 534C>T MALY-DE 8 22442906 22442906 single base substitution C T synonymous_variant S428S 1284C>T MALY-DE 8 22442906 22442906 single base substitution C T upstream_gene_variant MALY-DE 8 22445406 22445406 single base substitution C T downstream_gene_variant MALY-DE 8 22445406 22445406 single base substitution C T intron_variant MALY-DE 8 22445406 22445406 single base substitution C T upstream_gene_variant MALY-DE 8 22450439 22450439 single base substitution C T downstream_gene_variant MALY-DE 8 22450439 22450439 single base substitution C T intron_variant MALY-DE 8 22455201 22455201 single base substitution A C 3_prime_UTR_variant MALY-DE 8 22455201 22455201 single base substitution A C downstream_gene_variant MELA-AU 8 22431685 22431685 single base substitution C T upstream_gene_variant MELA-AU 8 22431778 22431778 single base substitution C T upstream_gene_variant MELA-AU 8 22432349 22432349 single base substitution C T upstream_gene_variant MELA-AU 8 22432553 22432553 single base substitution C T upstream_gene_variant MELA-AU 8 22433162 22433162 single base substitution G A upstream_gene_variant MELA-AU 8 22433579 22433579 single base substitution C T upstream_gene_variant MELA-AU 8 22434170 22434182 deletion of <=200bp GCCCTCGTCCAGG - upstream_gene_variant MELA-AU 8 22434512 22434512 single base substitution C T upstream_gene_variant MELA-AU 8 22435195 22435195 single base substitution C T upstream_gene_variant MELA-AU 8 22435333 22435333 single base substitution C T upstream_gene_variant MELA-AU 8 22435390 22435390 single base substitution C T upstream_gene_variant MELA-AU 8 22435431 22435431 single base substitution C T upstream_gene_variant MELA-AU 8 22435470 22435470 single base substitution C T upstream_gene_variant MELA-AU 8 22436066 22436066 single base substitution C T intron_variant MELA-AU 8 22436066 22436066 single base substitution C T upstream_gene_variant MELA-AU 8 22436190 22436190 single base substitution G A intron_variant MELA-AU 8 22436190 22436190 single base substitution G A upstream_gene_variant MELA-AU 8 22436403 22436403 single base substitution G A intron_variant MELA-AU 8 22436403 22436403 single base substitution G A synonymous_variant P37P 111G>A MELA-AU 8 22436403 22436403 single base substitution G A upstream_gene_variant MELA-AU 8 22437587 22437587 single base substitution C T intron_variant MELA-AU 8 22437587 22437587 single base substitution C T upstream_gene_variant MELA-AU 8 22437736 22437736 single base substitution T C 5_prime_UTR_variant MELA-AU 8 22437736 22437736 single base substitution T C intron_variant MELA-AU 8 22437736 22437736 single base substitution T C upstream_gene_variant MELA-AU 8 22437897 22437897 single base substitution G A 5_prime_UTR_variant MELA-AU 8 22437897 22437897 single base substitution G A intron_variant MELA-AU 8 22437897 22437897 single base substitution G A upstream_gene_variant MELA-AU 8 22437903 22437903 single base substitution C T 5_prime_UTR_variant MELA-AU 8 22437903 22437903 single base substitution C T intron_variant MELA-AU 8 22437903 22437903 single base substitution C T upstream_gene_variant MELA-AU 8 22437952 22437952 single base substitution G A intron_variant MELA-AU 8 22437952 22437952 single base substitution G A upstream_gene_variant MELA-AU 8 22438420 22438420 single base substitution G A intron_variant MELA-AU 8 22438420 22438420 single base substitution G A upstream_gene_variant MELA-AU 8 22439078 22439078 single base substitution C T intron_variant MELA-AU 8 22439078 22439078 single base substitution C T upstream_gene_variant MELA-AU 8 22439668 22439668 single base substitution C T intron_variant MELA-AU 8 22439668 22439668 single base substitution C T upstream_gene_variant MELA-AU 8 22439837 22439837 single base substitution C T intron_variant MELA-AU 8 22439837 22439837 single base substitution C T upstream_gene_variant MELA-AU 8 22440754 22440754 single base substitution G A intron_variant MELA-AU 8 22440754 22440754 single base substitution G A upstream_gene_variant MELA-AU 8 22440786 22440786 single base substitution C T intron_variant MELA-AU 8 22440786 22440786 single base substitution C T upstream_gene_variant MELA-AU 8 22441356 22441356 single base substitution C T intron_variant MELA-AU 8 22441356 22441356 single base substitution C T upstream_gene_variant MELA-AU 8 22442315 22442315 single base substitution C T intron_variant MELA-AU 8 22442315 22442315 single base substitution C T upstream_gene_variant MELA-AU 8 22442319 22442319 single base substitution C T intron_variant MELA-AU 8 22442319 22442319 single base substitution C T upstream_gene_variant MELA-AU 8 22442535 22442535 single base substitution C T 3_prime_UTR_variant MELA-AU 8 22442535 22442535 single base substitution C T exon_variant MELA-AU 8 22442535 22442535 single base substitution C T synonymous_variant S107S 321C>T MELA-AU 8 22442535 22442535 single base substitution C T synonymous_variant S357S 1071C>T MELA-AU 8 22442535 22442535 single base substitution C T upstream_gene_variant MELA-AU 8 22442781 22442781 single base substitution C T downstream_gene_variant MELA-AU 8 22442781 22442781 single base substitution C T intron_variant MELA-AU 8 22442781 22442781 single base substitution C T upstream_gene_variant MELA-AU 8 22443005 22443005 single base substitution C T downstream_gene_variant MELA-AU 8 22443005 22443005 single base substitution C T exon_variant MELA-AU 8 22443005 22443005 single base substitution C T intron_variant MELA-AU 8 22443005 22443005 single base substitution C T upstream_gene_variant MELA-AU 8 22443478 22443478 single base substitution C T downstream_gene_variant MELA-AU 8 22443478 22443478 single base substitution C T intron_variant MELA-AU 8 22443478 22443478 single base substitution C T upstream_gene_variant MELA-AU 8 22443502 22443502 single base substitution C T downstream_gene_variant MELA-AU 8 22443502 22443502 single base substitution C T intron_variant MELA-AU 8 22443502 22443502 single base substitution C T upstream_gene_variant MELA-AU 8 22444286 22444286 single base substitution C T downstream_gene_variant MELA-AU 8 22444286 22444286 single base substitution C T intron_variant MELA-AU 8 22444286 22444286 single base substitution C T upstream_gene_variant MELA-AU 8 22445128 22445128 single base substitution C T downstream_gene_variant MELA-AU 8 22445128 22445128 single base substitution C T intron_variant MELA-AU 8 22445128 22445128 single base substitution C T upstream_gene_variant MELA-AU 8 22445403 22445403 single base substitution C T downstream_gene_variant MELA-AU 8 22445403 22445403 single base substitution C T intron_variant MELA-AU 8 22445403 22445403 single base substitution C T upstream_gene_variant MELA-AU 8 22445641 22445641 single base substitution C T downstream_gene_variant MELA-AU 8 22445641 22445641 single base substitution C T intron_variant MELA-AU 8 22445641 22445641 single base substitution C T upstream_gene_variant MELA-AU 8 22446061 22446061 single base substitution G A downstream_gene_variant MELA-AU 8 22446061 22446061 single base substitution G A exon_variant MELA-AU 8 22446061 22446061 single base substitution G A intron_variant MELA-AU 8 22446061 22446061 single base substitution G A upstream_gene_variant MELA-AU 8 22446073 22446073 single base substitution G A downstream_gene_variant MELA-AU 8 22446073 22446073 single base substitution G A exon_variant MELA-AU 8 22446073 22446073 single base substitution G A intron_variant MELA-AU 8 22446073 22446073 single base substitution G A upstream_gene_variant MELA-AU 8 22446112 22446112 single base substitution A T downstream_gene_variant MELA-AU 8 22446112 22446112 single base substitution A T exon_variant MELA-AU 8 22446112 22446112 single base substitution A T intron_variant MELA-AU 8 22446112 22446112 single base substitution A T upstream_gene_variant MELA-AU 8 22447316 22447316 single base substitution G A downstream_gene_variant MELA-AU 8 22447316 22447316 single base substitution G A intron_variant MELA-AU 8 22447671 22447671 single base substitution C T downstream_gene_variant MELA-AU 8 22447671 22447671 single base substitution C T intron_variant MELA-AU 8 22447705 22447706 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 8 22447705 22447706 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 22447936 22447937 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 22447936 22447937 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 22449953 22449953 single base substitution G A downstream_gene_variant MELA-AU 8 22449953 22449953 single base substitution G A intron_variant MELA-AU 8 22450133 22450133 single base substitution C T downstream_gene_variant MELA-AU 8 22450133 22450133 single base substitution C T intron_variant MELA-AU 8 22450470 22450470 single base substitution C T downstream_gene_variant MELA-AU 8 22450470 22450470 single base substitution C T intron_variant MELA-AU 8 22450498 22450498 single base substitution C T downstream_gene_variant MELA-AU 8 22450498 22450498 single base substitution C T intron_variant MELA-AU 8 22451922 22451922 single base substitution C T downstream_gene_variant MELA-AU 8 22451922 22451922 single base substitution C T intron_variant MELA-AU 8 22452212 22452212 single base substitution G A 3_prime_UTR_variant MELA-AU 8 22452212 22452212 single base substitution G A downstream_gene_variant MELA-AU 8 22452894 22452894 single base substitution C T 3_prime_UTR_variant MELA-AU 8 22452894 22452894 single base substitution C T downstream_gene_variant MELA-AU 8 22454335 22454335 single base substitution G A 3_prime_UTR_variant MELA-AU 8 22454335 22454335 single base substitution G A downstream_gene_variant MELA-AU 8 22454337 22454337 single base substitution G A 3_prime_UTR_variant MELA-AU 8 22454337 22454337 single base substitution G A downstream_gene_variant MELA-AU 8 22454382 22454382 single base substitution C G 3_prime_UTR_variant MELA-AU 8 22454382 22454382 single base substitution C G downstream_gene_variant MELA-AU 8 22454481 22454481 single base substitution C T 3_prime_UTR_variant MELA-AU 8 22454481 22454481 single base substitution C T downstream_gene_variant MELA-AU 8 22454971 22454971 single base substitution C T 3_prime_UTR_variant MELA-AU 8 22454971 22454971 single base substitution C T downstream_gene_variant MELA-AU 8 22455059 22455059 single base substitution C A 3_prime_UTR_variant MELA-AU 8 22455059 22455059 single base substitution C A downstream_gene_variant MELA-AU 8 22455209 22455209 single base substitution C T 3_prime_UTR_variant MELA-AU 8 22455209 22455209 single base substitution C T downstream_gene_variant MELA-AU 8 22455766 22455766 single base substitution G A downstream_gene_variant MELA-AU 8 22459219 22459219 single base substitution C T downstream_gene_variant MELA-AU 8 22459549 22459549 single base substitution G A downstream_gene_variant MELA-AU 8 22459613 22459613 single base substitution C T downstream_gene_variant MELA-AU 8 22459940 22459940 single base substitution C T downstream_gene_variant MELA-AU 8 22460140 22460140 single base substitution G A downstream_gene_variant ORCA-IN 8 22437241 22437241 single base substitution C T intron_variant ORCA-IN 8 22437241 22437241 single base substitution C T upstream_gene_variant ORCA-IN 8 22458449 22458449 single base substitution C G downstream_gene_variant ORCA-IN 8 22458693 22458693 single base substitution G A downstream_gene_variant ORCA-IN 8 22458835 22458835 single base substitution G T downstream_gene_variant ORCA-IN 8 22459539 22459539 single base substitution C A downstream_gene_variant ORCA-IN 8 22459733 22459733 single base substitution C A downstream_gene_variant OV-AU 8 22443705 22443705 single base substitution C A downstream_gene_variant OV-AU 8 22443705 22443705 single base substitution C A intron_variant OV-AU 8 22443705 22443705 single base substitution C A upstream_gene_variant OV-AU 8 22444150 22444150 single base substitution G C downstream_gene_variant OV-AU 8 22444150 22444150 single base substitution G C intron_variant OV-AU 8 22444150 22444150 single base substitution G C upstream_gene_variant OV-AU 8 22446357 22446357 single base substitution G A downstream_gene_variant OV-AU 8 22446357 22446357 single base substitution G A exon_variant OV-AU 8 22446357 22446357 single base substitution G A intron_variant OV-AU 8 22446357 22446357 single base substitution G A upstream_gene_variant OV-AU 8 22447392 22447392 single base substitution C T downstream_gene_variant OV-AU 8 22447392 22447392 single base substitution C T intron_variant PACA-AU 8 22435009 22435009 single base substitution A G upstream_gene_variant PACA-AU 8 22445570 22445570 single base substitution G A downstream_gene_variant PACA-AU 8 22445570 22445570 single base substitution G A intron_variant PACA-AU 8 22445570 22445570 single base substitution G A upstream_gene_variant PACA-AU 8 22453231 22453231 single base substitution G T 3_prime_UTR_variant PACA-AU 8 22453231 22453231 single base substitution G T downstream_gene_variant PACA-CA 8 22436304 22436304 single base substitution G T intron_variant PACA-CA 8 22436304 22436304 single base substitution G T synonymous_variant G4G 12G>T PACA-CA 8 22436304 22436304 single base substitution G T upstream_gene_variant PACA-CA 8 22436305 22436305 single base substitution A T intron_variant PACA-CA 8 22436305 22436305 single base substitution A T stop_gained R5* 13A>T PACA-CA 8 22436305 22436305 single base substitution A T upstream_gene_variant PACA-CA 8 22439740 22439740 single base substitution G T intron_variant PACA-CA 8 22439740 22439740 single base substitution G T upstream_gene_variant PACA-CA 8 22443790 22443790 single base substitution G A downstream_gene_variant PACA-CA 8 22443790 22443790 single base substitution G A intron_variant PACA-CA 8 22443790 22443790 single base substitution G A upstream_gene_variant PACA-CA 8 22447699 22447699 single base substitution G A downstream_gene_variant PACA-CA 8 22447699 22447699 single base substitution G A intron_variant PACA-CA 8 22449129 22449129 single base substitution C A downstream_gene_variant PACA-CA 8 22449129 22449129 single base substitution C A exon_variant PACA-CA 8 22449129 22449129 single base substitution C A intron_variant PACA-CA 8 22449129 22449129 single base substitution C A missense_variant L277M 829C>A PACA-CA 8 22449129 22449129 single base substitution C A missense_variant L527M 1579C>A PACA-CA 8 22459935 22459935 single base substitution G C downstream_gene_variant PACA-CA 8 22460031 22460031 deletion of <=200bp C - downstream_gene_variant PAEN-AU 8 22454923 22454923 single base substitution C T 3_prime_UTR_variant PAEN-AU 8 22454923 22454923 single base substitution C T downstream_gene_variant PAEN-IT 8 22435731 22435731 single base substitution C T upstream_gene_variant PAEN-IT 8 22435732 22435732 single base substitution C G upstream_gene_variant PAEN-IT 8 22435733 22435733 single base substitution A G upstream_gene_variant PBCA-DE 8 22434165 22434165 single base substitution A G upstream_gene_variant PBCA-DE 8 22442114 22442150 deletion of <=200bp GTGCCTGGCCAACTGTCCTTTCTTTTAAGGAACCATG - intron_variant PBCA-DE 8 22442114 22442150 deletion of <=200bp GTGCCTGGCCAACTGTCCTTTCTTTTAAGGAACCATG - upstream_gene_variant PBCA-DE 8 22449071 22449071 single base substitution G A downstream_gene_variant PBCA-DE 8 22449071 22449071 single base substitution G A exon_variant PBCA-DE 8 22449071 22449071 single base substitution G A intron_variant PBCA-DE 8 22449071 22449071 single base substitution G A synonymous_variant T257T 771G>A PBCA-DE 8 22449071 22449071 single base substitution G A synonymous_variant T507T 1521G>A PRAD-CA 8 22437101 22437101 single base substitution G A intron_variant PRAD-CA 8 22437101 22437101 single base substitution G A upstream_gene_variant PRAD-UK 8 22437243 22437243 single base substitution T G intron_variant PRAD-UK 8 22437243 22437243 single base substitution T G upstream_gene_variant PRAD-UK 8 22459863 22459863 single base substitution G A downstream_gene_variant READ-US 8 22447195 22447195 deletion of <=200bp C - 3_prime_UTR_variant READ-US 8 22447195 22447195 deletion of <=200bp C - downstream_gene_variant READ-US 8 22447195 22447195 deletion of <=200bp C - exon_variant READ-US 8 22447195 22447195 deletion of <=200bp C - frameshift_variant A235 READ-US 8 22447195 22447195 deletion of <=200bp C - frameshift_variant A485 READ-US 8 22449151 22449151 single base substitution A C downstream_gene_variant READ-US 8 22449151 22449151 single base substitution A C exon_variant READ-US 8 22449151 22449151 single base substitution A C intron_variant READ-US 8 22449151 22449151 single base substitution A C missense_variant H284P 851A>C READ-US 8 22449151 22449151 single base substitution A C missense_variant H534P 1601A>C RECA-EU 8 22435731 22435731 single base substitution C A upstream_gene_variant RECA-EU 8 22440190 22440190 single base substitution G T intron_variant RECA-EU 8 22440190 22440190 single base substitution G T upstream_gene_variant RECA-EU 8 22441973 22441973 single base substitution C A intron_variant RECA-EU 8 22441973 22441973 single base substitution C A upstream_gene_variant RECA-EU 8 22458249 22458249 single base substitution C A downstream_gene_variant RECA-EU 8 22458457 22458457 single base substitution C T downstream_gene_variant SKCA-BR 8 22431293 22431293 single base substitution C T upstream_gene_variant SKCA-BR 8 22431883 22431883 single base substitution C T upstream_gene_variant SKCA-BR 8 22433029 22433029 single base substitution C T upstream_gene_variant SKCA-BR 8 22433415 22433415 insertion of <=200bp - TTG upstream_gene_variant SKCA-BR 8 22435940 22435940 single base substitution G A intron_variant SKCA-BR 8 22435940 22435940 single base substitution G A upstream_gene_variant SKCA-BR 8 22438229 22438229 single base substitution A G intron_variant SKCA-BR 8 22438229 22438229 single base substitution A G upstream_gene_variant SKCA-BR 8 22441174 22441174 single base substitution G A intron_variant SKCA-BR 8 22441174 22441174 single base substitution G A upstream_gene_variant SKCA-BR 8 22445989 22445989 single base substitution T G downstream_gene_variant SKCA-BR 8 22445989 22445989 single base substitution T G exon_variant SKCA-BR 8 22445989 22445989 single base substitution T G intron_variant SKCA-BR 8 22445989 22445989 single base substitution T G upstream_gene_variant SKCA-BR 8 22446598 22446660 deletion of <=200bp CTGGCTCCGAGGGAAGGGGCAGGGGGCCCGCTGGTCGGCGAGGGCTGGGAGCCCCCGACACCT - downstream_gene_variant SKCA-BR 8 22446598 22446660 deletion of <=200bp CTGGCTCCGAGGGAAGGGGCAGGGGGCCCGCTGGTCGGCGAGGGCTGGGAGCCCCCGACACCT - exon_variant SKCA-BR 8 22446598 22446660 deletion of <=200bp CTGGCTCCGAGGGAAGGGGCAGGGGGCCCGCTGGTCGGCGAGGGCTGGGAGCCCCCGACACCT - intron_variant SKCA-BR 8 22446598 22446660 deletion of <=200bp CTGGCTCCGAGGGAAGGGGCAGGGGGCCCGCTGGTCGGCGAGGGCTGGGAGCCCCCGACACCT - upstream_gene_variant SKCA-BR 8 22448256 22448256 single base substitution T G downstream_gene_variant SKCA-BR 8 22448256 22448256 single base substitution T G intron_variant SKCA-BR 8 22457867 22457867 single base substitution C T downstream_gene_variant SKCA-BR 8 22458695 22458695 single base substitution T G downstream_gene_variant SKCM-US 8 22442594 22442594 single base substitution C T 3_prime_UTR_variant SKCM-US 8 22442594 22442594 single base substitution C T exon_variant SKCM-US 8 22442594 22442594 single base substitution C T missense_variant S127F 380C>T SKCM-US 8 22442594 22442594 single base substitution C T missense_variant S377F 1130C>T SKCM-US 8 22442594 22442594 single base substitution C T upstream_gene_variant SKCM-US 8 22442600 22442600 single base substitution G A 3_prime_UTR_variant SKCM-US 8 22442600 22442600 single base substitution G A exon_variant SKCM-US 8 22442600 22442600 single base substitution G A missense_variant S129N 386G>A SKCM-US 8 22442600 22442600 single base substitution G A missense_variant S379N 1136G>A SKCM-US 8 22442600 22442600 single base substitution G A upstream_gene_variant SKCM-US 8 22442629 22442629 single base substitution C T 3_prime_UTR_variant SKCM-US 8 22442629 22442629 single base substitution C T exon_variant SKCM-US 8 22442629 22442629 single base substitution C T missense_variant P139S 415C>T SKCM-US 8 22442629 22442629 single base substitution C T missense_variant P389S 1165C>T SKCM-US 8 22442629 22442629 single base substitution C T upstream_gene_variant SKCM-US 8 22442633 22442633 single base substitution C T 3_prime_UTR_variant SKCM-US 8 22442633 22442633 single base substitution C T exon_variant SKCM-US 8 22442633 22442633 single base substitution C T missense_variant P140L 419C>T SKCM-US 8 22442633 22442633 single base substitution C T missense_variant P390L 1169C>T SKCM-US 8 22442633 22442633 single base substitution C T upstream_gene_variant SKCM-US 8 22442865 22442865 single base substitution C T 3_prime_UTR_variant SKCM-US 8 22442865 22442865 single base substitution C T downstream_gene_variant SKCM-US 8 22442865 22442865 single base substitution C T exon_variant SKCM-US 8 22442865 22442865 single base substitution C T missense_variant P165S 493C>T SKCM-US 8 22442865 22442865 single base substitution C T missense_variant P415S 1243C>T SKCM-US 8 22442865 22442865 single base substitution C T upstream_gene_variant SKCM-US 8 22449084 22449084 single base substitution C T downstream_gene_variant SKCM-US 8 22449084 22449084 single base substitution C T exon_variant SKCM-US 8 22449084 22449084 single base substitution C T intron_variant SKCM-US 8 22449084 22449084 single base substitution C T missense_variant P262S 784C>T SKCM-US 8 22449084 22449084 single base substitution C T missense_variant P512S 1534C>T SKCM-US 8 22458639 22458639 single base substitution C T downstream_gene_variant SKCM-US 8 22459810 22459810 single base substitution C T downstream_gene_variant SKCM-US 8 22460140 22460140 single base substitution G A downstream_gene_variant STAD-US 8 22438965 22438965 single base substitution G A 3_prime_UTR_variant STAD-US 8 22438965 22438965 single base substitution G A missense_variant S306N 917G>A STAD-US 8 22438965 22438965 single base substitution G A missense_variant S56N 167G>A STAD-US 8 22438965 22438965 single base substitution G A upstream_gene_variant STAD-US 8 22442530 22442530 single base substitution G A missense_variant G106S 316G>A STAD-US 8 22442530 22442530 single base substitution G A missense_variant G356S 1066G>A STAD-US 8 22442530 22442530 single base substitution G A splice_region_variant STAD-US 8 22442530 22442530 single base substitution G A upstream_gene_variant STAD-US 8 22442669 22442669 single base substitution G A 3_prime_UTR_variant STAD-US 8 22442669 22442669 single base substitution G A exon_variant STAD-US 8 22442669 22442669 single base substitution G A missense_variant S152N 455G>A STAD-US 8 22442669 22442669 single base substitution G A missense_variant S402N 1205G>A STAD-US 8 22442669 22442669 single base substitution G A upstream_gene_variant STAD-US 8 22452098 22452098 single base substitution T C downstream_gene_variant STAD-US 8 22452098 22452098 single base substitution T C missense_variant M346T 1037T>C STAD-US 8 22452116 22452116 single base substitution G A downstream_gene_variant STAD-US 8 22452116 22452116 single base substitution G A missense_variant R352Q 1055G>A STAD-US 8 22458487 22458487 single base substitution T A downstream_gene_variant STAD-US 8 22458519 22458519 single base substitution C T downstream_gene_variant STAD-US 8 22458739 22458739 single base substitution A G downstream_gene_variant STAD-US 8 22459291 22459291 single base substitution C A downstream_gene_variant STAD-US 8 22459490 22459490 single base substitution C T downstream_gene_variant STAD-US 8 22459825 22459825 single base substitution G A downstream_gene_variant THCA-SA 8 22432322 22432322 deletion of <=200bp A - upstream_gene_variant THCA-SA 8 22436717 22436717 single base substitution G A 5_prime_UTR_variant THCA-SA 8 22436717 22436717 single base substitution G A intron_variant THCA-SA 8 22436717 22436717 single base substitution G A missense_variant R142Q 425G>A THCA-SA 8 22436717 22436717 single base substitution G A upstream_gene_variant THCA-SA 8 22436724 22436724 single base substitution T G 5_prime_UTR_variant THCA-SA 8 22436724 22436724 single base substitution T G intron_variant THCA-SA 8 22436724 22436724 single base substitution T G splice_donor_variant THCA-SA 8 22436724 22436724 single base substitution T G synonymous_variant G144G 432T>G THCA-SA 8 22436724 22436724 single base substitution T G upstream_gene_variant THCA-SA 8 22457241 22457241 single base substitution G T downstream_gene_variant THCA-SA 8 22458666 22458666 single base substitution G T downstream_gene_variant UCEC-US 8 22438946 22438946 single base substitution G A 3_prime_UTR_variant UCEC-US 8 22438946 22438946 single base substitution G A missense_variant V300M 898G>A UCEC-US 8 22438946 22438946 single base substitution G A missense_variant V50M 148G>A UCEC-US 8 22438946 22438946 single base substitution G A upstream_gene_variant UCEC-US 8 22442613 22442613 deletion of <=200bp C - 3_prime_UTR_variant UCEC-US 8 22442613 22442613 deletion of <=200bp C - exon_variant UCEC-US 8 22442613 22442613 deletion of <=200bp C - frameshift_variant G133 UCEC-US 8 22442613 22442613 deletion of <=200bp C - frameshift_variant G383 UCEC-US 8 22442613 22442613 deletion of <=200bp C - upstream_gene_variant UCEC-US 8 22451333 22451333 single base substitution C T 3_prime_UTR_variant UCEC-US 8 22451333 22451333 single base substitution C T downstream_gene_variant UCEC-US 8 22451333 22451333 single base substitution C T exon_variant UCEC-US 8 22451333 22451333 single base substitution C T synonymous_variant R323R 969C>T UCEC-US 8 22451333 22451333 single base substitution C T synonymous_variant R573R 1719C>T UCEC-US 8 22451394 22451394 single base substitution G A 3_prime_UTR_variant UCEC-US 8 22451394 22451394 single base substitution G A downstream_gene_variant UCEC-US 8 22451394 22451394 single base substitution G A exon_variant UCEC-US 8 22451394 22451394 single base substitution G A intron_variant UCEC-US 8 22451394 22451394 single base substitution G A missense_variant A344T 1030G>A UCEC-US 8 22451394 22451394 single base substitution G A missense_variant A594T 1780G>A UCEC-US 8 22452115 22452115 single base substitution C T downstream_gene_variant UCEC-US 8 22452115 22452115 single base substitution C T missense_variant R352W 1054C>T UCEC-US 8 22458554 22458554 single base substitution G A downstream_gene_variant UCEC-US 8 22458719 22458719 single base substitution G T downstream_gene_variant UCEC-US 8 22460132 22460132 single base substitution C T downstream_gene_variant UCEC-US 8 22460156 22460156 single base substitution G T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CN-AML-NR-08-Dx COSM3763256 c.447A>G p.A149A Substitution - coding silent 8:22585148-22585148 + HCC2998 COSM2786265 c.1438C>T p.R480C Substitution - Missense 8:22589666-22589666 + ESCC_53 COSM1580207 c.1058G>A p.R353H Substitution - Missense 8:22584883-22584883 + RKO COSM2786258 c.450C>T p.A150A Substitution - coding silent 8:22585151-22585151 + TCGA-A6-6781-01 COSM1456103 c.1666C>T p.R556C Substitution - Missense 8:22593767-22593767 + I2L-P7-Tumor-Organoid COSM5359043 c.913T>C p.Y305H Substitution - Missense 8:22593764-22593764 + TCGA-A6-6781-01 COSM1456104 c.916C>T p.R306C Substitution - Missense 8:22593767-22593767 + TCGA-CZ-5465-01 COSM486310 c.1011A>T p.R337S Substitution - Missense 8:22594559-22594559 + TCGA-WS-AB45-01 COSM5188982 c.54_55insG p.R21fs*11 Insertion - Frameshift 8:22580658-22580659 + TCGA-B5-A11E-01 COSM1098123 c.1054C>T p.R352W Substitution - Missense 8:22594602-22594602 + HCC120 COSM3663701 c.298C>A p.P100T Substitution - Missense 8:22579077-22579077 + TCGA-EE-A29E-06 COSM3647301 c.415C>T p.P139S Substitution - Missense 8:22585116-22585116 + SNUH_G57_S1 COSM3685373 c.1789A>T p.T597S Substitution - Missense 8:22593890-22593890 + PDA_018 COSM4998942 c.482C>T p.S161F Substitution - Missense 8:22585341-22585341 + App2312 COSM4168695 c.626C>T p.S209L Substitution - Missense 8:22589604-22589604 + RKO COSM2786257 c.1200C>T p.A400A Substitution - coding silent 8:22585151-22585151 + TCGA-BC-A112-01 COSM4936605 c.904A>G p.I302V Substitution - Missense 8:22581439-22581439 + HCC093T COSM5810997 c.1471T>G p.S491A Substitution - Missense 8:22589699-22589699 + TCGA-G2-A2ES-01 COSM1313930 c.512C>G p.S171C Substitution - Missense 8:22585371-22585371 + SNUH_G46_S1 COSM3685374 c.1805C>T p.A602V Substitution - Missense 8:22593906-22593906 + TCGA-BR-8487-01 COSM3898954 c.455G>A p.S152N Substitution - Missense 8:22585156-22585156 + TCGA-EE-A2MR-06 COSM1552141 c.1130C>T p.S377F Substitution - Missense 8:22585081-22585081 + ESO-887 COSM1261830 c.918C>T p.S306S Substitution - coding silent 8:22581453-22581453 + PCSI_0465_Pa_P_526 COSM4964568 c.13A>T p.R5* Substitution - Nonsense 8:22578792-22578792 + CN-AML-NR-08-Dx COSM3763255 c.1197A>G p.A399A Substitution - coding silent 8:22585148-22585148 + HCC093T COSM5810998 c.721T>G p.S241A Substitution - Missense 8:22589699-22589699 + TCGA-BG-A0M7-01 COSM1098120 c.399delC p.S134fs*132 Deletion - Frameshift 8:22585100-22585100 + RMS66_ COSM4988120 c.1100G>C p.*367S Nonstop extension 8:22594648-22594648 + TCGA-EI-6882-01 COSM5079109 c.704delC p.R237fs*29 Deletion - Frameshift 8:22589682-22589682 + 05-P8068 COSM4587993 c.919G>A p.A307T Substitution - Missense 8:22581454-22581454 + TCGA-CG-5728-01 COSM3898956 c.1055G>A p.R352Q Substitution - Missense 8:22594603-22594603 + TCGA-BQ-5884-01 COSM3995977 c.1016C>T p.S339L Substitution - Missense 8:22594564-22594564 + 2318491 COSM4776721 c.727C>T p.R243W Substitution - Missense 8:22589705-22589705 + TCGA-D1-A17D-01 COSM1098121 c.969C>T p.R323R Substitution - coding silent 8:22593820-22593820 + 40M COSM5586191 c.373G>A p.E125K Substitution - Missense 8:22579152-22579152 + TCGA-AA-3492-01 COSM5097674 c.1082C>A p.P361H Substitution - Missense 8:22594630-22594630 + TCGA-G4-6588-01 COSM1456106 c.921delC p.G309fs*10 Deletion - Frameshift 8:22593772-22593772 + TCGA-DK-A1A5-01 COSM421675 c.453C>T p.I151I Substitution - coding silent 8:22585154-22585154 + TCGA-EE-A2MR-06 COSM1552142 c.380C>T p.S127F Substitution - Missense 8:22585081-22585081 + CHC320T COSM3763256 c.447A>G p.A149A Substitution - coding silent 8:22585148-22585148 + TCGA-HU-A4H8-01 COSM3898949 c.917G>A p.S306N Substitution - Missense 8:22581452-22581452 + PCSI_0465_Pa_P_526 COSM4964581 c.12G>T p.G4G Substitution - coding silent 8:22578791-22578791 + CHC320T COSM3763255 c.1197A>G p.A399A Substitution - coding silent 8:22585148-22585148 + 2318491 COSM4776720 c.1477C>T p.R493W Substitution - Missense 8:22589705-22589705 + GC_312T-GC_312N COSM4773668 c.676C>T p.L226L Substitution - coding silent 8:22589654-22589654 + YUMER COSM1699804 c.1181C>T p.S394F Substitution - Missense 8:22585132-22585132 + TCGA-DK-A1A5-01 COSM1133827 c.1203C>T p.I401I Substitution - coding silent 8:22585154-22585154 + TCGA-FW-A3R5-06 COSM3925014 c.1243C>T p.P415S Substitution - Missense 8:22585352-22585352 + ESCC_13 COSM5625361 c.59C>T p.S20L Substitution - Missense 8:22578838-22578838 + 05-P8068 COSM4587994 c.169G>A p.A57T Substitution - Missense 8:22581454-22581454 + TCGA-DD-A4NI-01 COSM2786251 c.1111T>A p.S371T Substitution - Missense 8:22585062-22585062 + TCGA-AZ-4615-01 COSM3763256 c.447A>G p.A149A Substitution - coding silent 8:22585148-22585148 + ICGC_MB102 COSM3765397 c.771G>A p.T257T Substitution - coding silent 8:22591558-22591558 + CSCC-40-T COSM4462151 c.484C>T p.P162S Substitution - Missense 8:22585343-22585343 + TCGA-CM-4743-01 COSM5156486 c.401G>T p.S134I Substitution - Missense 8:22585102-22585102 + TCGA-AA-3815-01 COSM1456108 c.972G>A p.G324G Substitution - coding silent 8:22593823-22593823 + TCGA-BG-A0W1-01 COSM1098119 c.148G>A p.V50M Substitution - Missense 8:22581433-22581433 + TARGET-30-PARBLH COSM1287060 c.162G>T p.G54G Substitution - coding silent 8:22581447-22581447 + pfg122T COSM4751157 c.770C>T p.T257M Substitution - Missense 8:22591557-22591557 + HCC2998 COSM2786266 c.688C>T p.R230C Substitution - Missense 8:22589666-22589666 + SA1 COSM1166344 c.1386A>G p.G462G Substitution - coding silent 8:22589614-22589614 + 33 COSM3898956 c.1055G>A p.R352Q Substitution - Missense 8:22594603-22594603 + T3724 COSM4713385 c.631delG p.G212fs*54 Deletion - Frameshift 8:22589609-22589609 + TCGA-AZ-4615-01 COSM3763255 c.1197A>G p.A399A Substitution - coding silent 8:22585148-22585148 + CHC322T COSM3763255 c.1197A>G p.A399A Substitution - coding silent 8:22585148-22585148 + TARGET-20-PANYGP-09A-02D COSM5487372 c.690C>T p.R230R Substitution - coding silent 8:22589668-22589668 + TCGA-BC-A112-01 COSM4936606 c.154A>G p.I52V Substitution - Missense 8:22581439-22581439 + 3N07-VS-3T07 COSM4978934 c.1557C>G p.S519S Substitution - coding silent 8:22591594-22591594 + TCGA-EI-6882-01 COSM3432272 c.851A>C p.H284P Substitution - Missense 8:22591638-22591638 + TCGA-CK-6746-01 COSM5155641 c.882-1G>A p.? Unknown 8:22593732-22593732 + TCGA-BF-A3DM-01 COSM3925016 c.1534C>T p.P512S Substitution - Missense 8:22591571-22591571 + ESCC_53 COSM1580208 c.308G>A p.R103H Substitution - Missense 8:22584883-22584883 + YUMER COSM1699805 c.431C>T p.S144F Substitution - Missense 8:22585132-22585132 + pfg122T COSM4751156 c.1520C>T p.T507M Substitution - Missense 8:22591557-22591557 + TCGA-D3-A3MU-06 COSM3647299 c.386G>A p.S129N Substitution - Missense 8:22585087-22585087 + HCC120T COSM3663701 c.298C>A p.P100T Substitution - Missense 8:22579077-22579077 + XPA21PT COSM1580207 c.1058G>A p.R353H Substitution - Missense 8:22584883-22584883 + TCGA-G4-6588-01 COSM1456105 c.1671delC p.G559fs*10 Deletion - Frameshift 8:22593772-22593772 + TCGA-D7-6528-01 COSM3898952 c.316G>A p.G106S Substitution - Missense 8:22585017-22585017 + TCGA-BG-A0M7-01 COSM1597615 c.1149delC p.S384fs*132 Deletion - Frameshift 8:22585100-22585100 + 3N07-VS-3T07 COSM4978935 c.807C>G p.S269S Substitution - coding silent 8:22591594-22591594 + PTC-46C COSM4162916 c.1294G>T p.G432C Substitution - Missense 8:22589301-22589301 + TARGET-30-PARBLH COSM1287059 c.912G>T p.G304G Substitution - coding silent 8:22581447-22581447 + App2312 COSM4168694 c.1376C>T p.S459L Substitution - Missense 8:22589604-22589604 + TCGA-EE-A2GC-06 COSM3647302 c.1169C>T p.P390L Substitution - Missense 8:22585120-22585120 + TCGA-G4-6304-01 COSM1456102 c.535C>T p.R179* Substitution - Nonsense 8:22585394-22585394 + ESCC_13 COSM5625362 c.216C>T p.G72G Substitution - coding silent 8:22578995-22578995 + TCGA-EE-A2GC-06 COSM3647303 c.419C>T p.P140L Substitution - Missense 8:22585120-22585120 + CHC322T COSM3763256 c.447A>G p.A149A Substitution - coding silent 8:22585148-22585148 + TCGA-DD-A4NI-01 COSM2786252 c.361T>A p.S121T Substitution - Missense 8:22585062-22585062 + TCGA-C5-A7UH-01 COSM4856638 c.1448G>A p.R483Q Substitution - Missense 8:22589676-22589676 + LP6005334-DNA_G03 COSM5036354 c.227C>A p.P76Q Substitution - Missense 8:22579006-22579006 + TCGA-BF-A3DM-01 COSM3925017 c.784C>T p.P262S Substitution - Missense 8:22591571-22591571 + PTC-46C COSM4162917 c.544G>T p.G182C Substitution - Missense 8:22589301-22589301 + 49M COSM5592473 c.1037C>T p.S346F Substitution - Missense 8:22584862-22584862 + TCGA-D7-6528-01 COSM3898951 c.1066G>A p.G356S Substitution - Missense 8:22585017-22585017 + TCGA-EI-6882-01 COSM5079108 c.1454delC p.R487fs*29 Deletion - Frameshift 8:22589682-22589682 + OST104PT COSM1732485 c.1072G>A p.V358M Substitution - Missense 8:22585023-22585023 + TCGA-FW-A3R5-06 COSM3925015 c.493C>T p.P165S Substitution - Missense 8:22585352-22585352 + TCGA-CG-5723-01 COSM3898955 c.1037T>C p.M346T Substitution - Missense 8:22594585-22594585 + TARGET-20-PANYGP-09A-02D COSM5487371 c.1440C>T p.R480R Substitution - coding silent 8:22589668-22589668 + CSCC-40-T COSM4462150 c.1234C>T p.P412S Substitution - Missense 8:22585343-22585343 + TCGA-EE-A29E-06 COSM3647300 c.1165C>T p.P389S Substitution - Missense 8:22585116-22585116 + TCGA-23-2647-01 COSM1331064 c.1256G>C p.R419P Substitution - Missense 8:22585365-22585365 + TCGA-G2-A2ES-01 COSM1313929 c.1262C>G p.S421C Substitution - Missense 8:22585371-22585371 + SA1 COSM1166345 c.636A>G p.G212G Substitution - coding silent 8:22589614-22589614 + TCGA-HU-A4H8-01 COSM3898950 c.167G>A p.S56N Substitution - Missense 8:22581452-22581452 + TCGA-AP-A059-01 COSM1098122 c.1780G>A p.A594T Substitution - Missense 8:22593881-22593881 + PTC_404 COSM5958177 c.425G>A p.R142Q Substitution - Missense 8:22579204-22579204 + I2L-P7-Tumor-Organoid COSM5359042 c.1663T>C p.Y555H Substitution - Missense 8:22593764-22593764 + T3724 COSM4713384 c.1381delG p.G462fs*54 Deletion - Frameshift 8:22589609-22589609 + OST104PT COSM1732486 c.322G>A p.V108M Substitution - Missense 8:22585023-22585023 + GC_312T-GC_312N COSM4773667 c.1426C>T p.L476L Substitution - coding silent 8:22589654-22589654 + TCGA-AA-3955-01 COSM297067 c.171G>A p.A57A Substitution - coding silent 8:22581456-22581456 + ICGC_MB102 COSM3765396 c.1521G>A p.T507T Substitution - coding silent 8:22591558-22591558 + tumor_4135099 COSM3953188 c.1284C>T p.S428S Substitution - coding silent 8:22585393-22585393 + PDA_018 COSM4998941 c.1232C>T p.S411F Substitution - Missense 8:22585341-22585341 + CN-AML-08-T COSM3763256 c.447A>G p.A149A Substitution - coding silent 8:22585148-22585148 + XPA21PT COSM1580208 c.308G>A p.R103H Substitution - Missense 8:22584883-22584883 + TCGA-D3-A3MU-06 COSM3647298 c.1136G>A p.S379N Substitution - Missense 8:22585087-22585087 + TCGA-BR-8487-01 COSM3898953 c.1205G>A p.S402N Substitution - Missense 8:22585156-22585156 + TCGA-AG-A01W-01 COSM290192 c.978C>G p.F326L Substitution - Missense 8:22593829-22593829 + TCGA-23-2647-01 COSM1331065 c.506G>C p.R169P Substitution - Missense 8:22585365-22585365 + 49M COSM5592474 c.287C>T p.S96F Substitution - Missense 8:22584862-22584862 + ESO-887 COSM1261831 c.168C>T p.S56S Substitution - coding silent 8:22581453-22581453 + CN-AML-08-T COSM3763255 c.1197A>G p.A399A Substitution - coding silent 8:22585148-22585148 + tumor_4135099 COSM3953189 c.534C>T p.S178S Substitution - coding silent 8:22585393-22585393 + TCGA-EI-6882-01 COSM3432271 c.1601A>C p.H534P Substitution - Missense 8:22591638-22591638 + TCGA-C5-A7UH-01 COSM4856639 c.698G>A p.R233Q Substitution - Missense 8:22589676-22589676 + sysucc-1370T COSM5472566 c.432T>G p.G144G Substitution - coding silent 8:22579211-22579211 + 61 COSM5738287 c.617T>G p.L206R Substitution - Missense 8:22579396-22579396 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.632034 8p21.3 609722 2405964|CGAP|BC021556|C/G|non-coding||1593|Validated; 2405964|CGAP|BC071774|C/G|non-coding||1723|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C - Frameshift p.S384Afs*132 c.1149delC 8 22442613 UCEC C G Missense p.F576L c.1728C>G 8 22451342 COREAD C G Missense p.S421C c.1262C>G 8 22442884 BLCA C T Missense p.P390L c.1169C>T 8 22442633 CM C T Missense p.P512S c.1534C>T 8 22449084 CM C T Synonymous p.I401I c.1203C>T 8 22442667 BLCA C T Synonymous p.L330L c.988C>T 8 22439036 LUAD C T Synonymous p.S306S c.918C>T 8 22438966 ESCA G A Missense p.G356S c.1066G>A 8 22442530 HNSC G A Missense p.G356S c.1066G>A 8 22442530 STAD G A Missense p.R294Q c.881G>A 8 22438929 HNSC G A Missense p.S379N c.1136G>A 8 22442600 CM G A Missense p.V300M c.898G>A 8 22438946 UCEC G A Synonymous p.A307A c.921G>A 8 22438969 COREAD G A Synonymous p.K289K c.867G>A 8 22438915 CM G C Missense p.E314Q c.940G>C 8 22438988 HNSC GG AA Missense p.G574K c.1720_1721delinsAA 8 22451334 CM G T Synonymous p.G304G c.912G>T 8 22438960 NB