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 23 102755188 102755188 + Missense_Mutation SNP G G T TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chrX:102755188G>T c.497C>A c.(496-498)tCt>tAt p.S166Y BLCA 23 102754907 102754907 + Missense_Mutation SNP A A G TCGA-FD-A6TF-01A-52D-A32B-08 TCGA-FD-A6TF-10A-21D-A329-08 g.chrX:102754907A>G c.778T>C c.(778-780)Tgc>Cgc p.C260R BRCA 23 102755366 102755366 + Nonsense_Mutation SNP G G A TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 g.chrX:102755366G>A c.319C>T c.(319-321)Cga>Tga p.R107* BRCA 23 102755501 102755501 + Missense_Mutation SNP G G A TCGA-BH-A1FG-01A-11D-A13L-09 TCGA-BH-A1FG-11B-12D-A13O-09 g.chrX:102755501G>A c.184C>T c.(184-186)Cgg>Tgg p.R62W BRCA 23 102755666 102755666 + Missense_Mutation SNP G G T TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 g.chrX:102755666G>T c.19C>A c.(19-21)Ccc>Acc p.P7T CESC 23 102755559 102755559 + Silent SNP C C T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 g.chrX:102755559C>T c.126G>A c.(124-126)ccG>ccA p.P42P COAD 23 102755102 102755102 + Missense_Mutation SNP G G T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chrX:102755102G>T c.583C>A c.(583-585)Ctc>Atc p.L195I COAD 23 102755508 102755508 + Silent SNP G G A TCGA-D5-6529-01A-11D-1771-10 TCGA-D5-6529-10A-01D-1771-10 g.chrX:102755508G>A c.177C>T c.(175-177)gaC>gaT p.D59D COAD 23 102755640 102755640 + Silent SNP G G C TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chrX:102755640G>C c.45C>G c.(43-45)ctC>ctG p.L15L COADREAD 23 102755102 102755102 + Missense_Mutation SNP G G T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chrX:102755102G>T c.583C>A c.(583-585)Ctc>Atc p.L195I COADREAD 23 102755133 102755133 + Silent SNP C C T TCGA-AG-3602-01A-02W-0833-10 TCGA-AG-3602-10A-01W-0833-10 g.chrX:102755133C>T c.552G>A c.(550-552)ggG>ggA p.G184G COADREAD 23 102755508 102755508 + Silent SNP G G A TCGA-D5-6529-01A-11D-1771-10 TCGA-D5-6529-10A-01D-1771-10 g.chrX:102755508G>A c.177C>T c.(175-177)gaC>gaT p.D59D COADREAD 23 102755559 102755559 + Silent SNP C C T TCGA-AG-A00C-01A-01W-A005-10 TCGA-AG-A00C-10A-01W-A005-10 g.chrX:102755559C>T c.126G>A c.(124-126)ccG>ccA p.P42P COADREAD 23 102755640 102755640 + Silent SNP G G C TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chrX:102755640G>C c.45C>G c.(43-45)ctC>ctG p.L15L DLBC 23 102755451 102755451 + Silent SNP G G A TCGA-GS-A9U4-01A-11D-A38X-10 TCGA-GS-A9U4-10A-01D-A38X-10 g.chrX:102755451G>A c.234C>T c.(232-234)acC>acT p.T78T GBM 23 102755508 102755508 + Silent SNP G G A TCGA-41-3393-01A-01D-1353-08 TCGA-41-3393-10A-01D-1353-08 g.chrX:102755508G>A c.177C>T c.(175-177)gaC>gaT p.D59D GBMLGG 23 102754930 102754930 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:102754930C>T c.755G>A c.(754-756)aGc>aAc p.S252N GBMLGG 23 102755508 102755508 + Silent SNP G G A TCGA-41-3393-01A-01D-1353-08 TCGA-41-3393-10A-01D-1353-08 g.chrX:102755508G>A c.177C>T c.(175-177)gaC>gaT p.D59D HNSC 23 102755663 102755663 + Missense_Mutation SNP C C A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 g.chrX:102755663C>A c.22G>T c.(22-24)Gac>Tac p.D8Y KICH 23 102755467 102755468 + Frame_Shift_Ins INS - - C TCGA-KN-8437-01A-11D-2310-10 TCGA-KN-8437-11A-01D-2311-10 g.chrX:102755467_102755468insC c.217_218insG c.(217-219)cagfs p.Q73fs KICH 23 102755468 102755469 + Frame_Shift_Ins INS - - C TCGA-KO-8404-01A-11D-2310-10 TCGA-KO-8404-11A-01D-2311-10 g.chrX:102755468_102755469insC c.216_217insG c.(214-219)gggcagfs p.Q73fs KIPAN 23 102755467 102755468 + Frame_Shift_Ins INS - - C TCGA-KN-8437-01A-11D-2310-10 TCGA-KN-8437-11A-01D-2311-10 g.chrX:102755467_102755468insC c.217_218insG c.(217-219)cagfs p.Q73fs KIPAN 23 102755468 102755469 + Frame_Shift_Ins INS - - C TCGA-KO-8404-01A-11D-2310-10 TCGA-KO-8404-11A-01D-2311-10 g.chrX:102755468_102755469insC c.216_217insG c.(214-219)gggcagfs p.Q73fs LGG 23 102754930 102754930 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:102754930C>T c.755G>A c.(754-756)aGc>aAc p.S252N LIHC 23 102755566 102755566 + Missense_Mutation SNP T T A TCGA-CC-A123-01A-11D-A12Z-10 TCGA-CC-A123-10A-01D-A12Z-10 g.chrX:102755566T>A c.119A>T c.(118-120)gAg>gTg p.E40V LUAD 23 102755239 102755239 + Missense_Mutation SNP C C T TCGA-55-1595-01A-01D-0969-08 TCGA-55-1595-11A-01D-0969-08 g.chrX:102755239C>T c.446G>A c.(445-447)gGt>gAt p.G149D LUAD 23 102755508 102755508 + Silent SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 g.chrX:102755508G>A c.177C>T c.(175-177)gaC>gaT p.D59D LUAD 23 102755546 102755546 + Missense_Mutation SNP C C G TCGA-55-A494-01A-11D-A24P-08 TCGA-55-A494-10A-01D-A24P-08 g.chrX:102755546C>G c.139G>C c.(139-141)Ggg>Cgg p.G47R LUAD 23 102755633 102755633 + Silent SNP G G A TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chrX:102755633G>A c.52C>T c.(52-54)Ctg>Ttg p.L18L LUSC 23 102755198 102755198 + Missense_Mutation SNP T T C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 g.chrX:102755198T>C c.487A>G c.(487-489)Atc>Gtc p.I163V LUSC 23 102755638 102755638 + Missense_Mutation SNP T T A TCGA-66-2763-01A-01D-1522-08 TCGA-66-2763-11A-01D-1522-08 g.chrX:102755638T>A c.47A>T c.(46-48)aAg>aTg p.K16M PCPG 23 102755566 102755566 + Missense_Mutation SNP T T A TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 g.chrX:102755566T>A c.119A>T c.(118-120)gAg>gTg p.E40V READ 23 102755133 102755133 + Silent SNP C C T TCGA-AG-3602-01A-02W-0833-10 TCGA-AG-3602-10A-01W-0833-10 g.chrX:102755133C>T c.552G>A c.(550-552)ggG>ggA p.G184G READ 23 102755559 102755559 + Silent SNP C C T TCGA-AG-A00C-01A-01W-A005-10 TCGA-AG-A00C-10A-01W-A005-10 g.chrX:102755559C>T c.126G>A c.(124-126)ccG>ccA p.P42P SKCM 23 102754975 102754975 + Missense_Mutation SNP C C T TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chrX:102754975C>T c.710G>A c.(709-711)cGa>cAa p.R237Q SKCM 23 102755029 102755029 + Missense_Mutation SNP C C T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 g.chrX:102755029C>T c.656G>A c.(655-657)aGa>aAa p.R219K

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 X 102751086 102751086 single base substitution C A downstream_gene_variant BRCA-EU X 102752245 102752245 single base substitution C A downstream_gene_variant BRCA-EU X 102755755 102755755 single base substitution C G 5_prime_UTR_variant BRCA-EU X 102755755 102755755 single base substitution C G splice_acceptor_variant BRCA-EU X 102756018 102756018 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU X 102756018 102756018 single base substitution G C intron_variant BRCA-EU X 102757075 102757075 insertion of <=200bp - A 5_prime_UTR_variant BRCA-EU X 102757075 102757075 insertion of <=200bp - A intron_variant BRCA-EU X 102758154 102758154 single base substitution C T intron_variant BRCA-EU X 102758154 102758154 single base substitution C T upstream_gene_variant BRCA-EU X 102758500 102758500 single base substitution T A intron_variant BRCA-EU X 102758500 102758500 single base substitution T A upstream_gene_variant BRCA-EU X 102758782 102758782 single base substitution G C intron_variant BRCA-EU X 102758782 102758782 single base substitution G C upstream_gene_variant BRCA-EU X 102760604 102760604 single base substitution T A intron_variant BRCA-EU X 102760604 102760604 single base substitution T A upstream_gene_variant BRCA-EU X 102760937 102760937 insertion of <=200bp - CACACA intron_variant BRCA-EU X 102760937 102760937 insertion of <=200bp - CACACA upstream_gene_variant BRCA-EU X 102761348 102761348 deletion of <=200bp A - intron_variant BRCA-EU X 102761348 102761348 deletion of <=200bp A - upstream_gene_variant BRCA-EU X 102761384 102761384 single base substitution T C intron_variant BRCA-EU X 102761384 102761384 single base substitution T C upstream_gene_variant BRCA-EU X 102762517 102762517 deletion of <=200bp A - intron_variant BRCA-EU X 102762517 102762517 deletion of <=200bp A - upstream_gene_variant BRCA-EU X 102763408 102763408 single base substitution G A intron_variant BRCA-EU X 102765263 102765263 single base substitution A C intron_variant BRCA-EU X 102766263 102766263 deletion of <=200bp A - intron_variant BRCA-EU X 102766431 102766431 insertion of <=200bp - A intron_variant BRCA-EU X 102767157 102767157 single base substitution T C intron_variant BRCA-EU X 102767265 102767265 single base substitution C T intron_variant BRCA-EU X 102767804 102767804 single base substitution T C intron_variant BRCA-EU X 102768942 102768942 single base substitution T C intron_variant BRCA-EU X 102771018 102771018 single base substitution G C intron_variant BRCA-EU X 102771718 102771718 single base substitution C T intron_variant BRCA-EU X 102774622 102774622 deletion of <=200bp C - upstream_gene_variant BRCA-EU X 102776188 102776188 insertion of <=200bp - A upstream_gene_variant BRCA-EU X 102777272 102777272 single base substitution G A upstream_gene_variant BRCA-EU X 102779032 102779032 single base substitution T A upstream_gene_variant BRCA-EU X 102779116 102779116 single base substitution A G upstream_gene_variant BRCA-FR X 102767157 102767157 single base substitution T C intron_variant BRCA-UK X 102758154 102758154 single base substitution C T intron_variant BRCA-UK X 102758154 102758154 single base substitution C T upstream_gene_variant BRCA-US X 102755366 102755366 single base substitution G A stop_gained R107* 319C>T BRCA-US X 102755501 102755501 single base substitution G A missense_variant R62W 184C>T BRCA-US X 102755666 102755666 single base substitution G T missense_variant P7T 19C>A BTCA-JP X 102755704 102755704 single base substitution C T 5_prime_UTR_variant CESC-US X 102755559 102755559 single base substitution C T synonymous_variant P42P 126G>A COAD-US X 102755102 102755102 single base substitution G T missense_variant L195I 583C>A COAD-US X 102755508 102755508 single base substitution G A synonymous_variant D59D 177C>T COAD-US X 102755551 102755551 single base substitution T A missense_variant H45L 134A>T COAD-US X 102755640 102755640 single base substitution G C synonymous_variant L15L 45C>G COCA-CN X 102754857 102754857 single base substitution A C missense_variant I276M 828T>G COCA-CN X 102755537 102755537 single base substitution C T missense_variant D50N 148G>A ESCA-CN X 102755366 102755366 single base substitution G A stop_gained R107* 319C>T ESCA-CN X 102755375 102755375 single base substitution C A missense_variant G104C 310G>T ESCA-CN X 102755476 102755476 single base substitution G A missense_variant T70M 209C>T GBM-US X 102755508 102755508 single base substitution G A synonymous_variant D59D 177C>T LAML-KR X 102755403 102755403 single base substitution G A synonymous_variant Y94Y 282C>T LICA-FR X 102750495 102750495 single base substitution T A downstream_gene_variant LICA-FR X 102750916 102750916 single base substitution T A downstream_gene_variant LICA-FR X 102752359 102752359 single base substitution C T downstream_gene_variant LICA-FR X 102760827 102760827 single base substitution G A intron_variant LICA-FR X 102760827 102760827 single base substitution G A upstream_gene_variant LIHC-US X 102755566 102755566 single base substitution T A missense_variant E40V 119A>T LIRI-JP X 102750164 102750164 single base substitution A G downstream_gene_variant LIRI-JP X 102752396 102752396 single base substitution G A downstream_gene_variant LIRI-JP X 102757275 102757275 single base substitution C G 5_prime_UTR_variant LIRI-JP X 102757275 102757275 single base substitution C G intron_variant LIRI-JP X 102758858 102758858 single base substitution T C intron_variant LIRI-JP X 102758858 102758858 single base substitution T C upstream_gene_variant LIRI-JP X 102758886 102758886 single base substitution C T intron_variant LIRI-JP X 102758886 102758886 single base substitution C T upstream_gene_variant LIRI-JP X 102760565 102760565 single base substitution T C intron_variant LIRI-JP X 102760565 102760565 single base substitution T C upstream_gene_variant LIRI-JP X 102762052 102762052 single base substitution G C intron_variant LIRI-JP X 102762052 102762052 single base substitution G C upstream_gene_variant LIRI-JP X 102768337 102768337 single base substitution T C intron_variant LIRI-JP X 102772793 102772793 single base substitution A G intron_variant LIRI-JP X 102775606 102775606 single base substitution T C upstream_gene_variant LIRI-JP X 102776444 102776444 single base substitution T C upstream_gene_variant LUSC-KR X 102754065 102754065 single base substitution C T downstream_gene_variant LUSC-KR X 102755403 102755403 single base substitution G A synonymous_variant Y94Y 282C>T LUSC-KR X 102756965 102756965 single base substitution C T 5_prime_UTR_variant LUSC-KR X 102756965 102756965 single base substitution C T intron_variant LUSC-KR X 102761515 102761515 single base substitution T C intron_variant LUSC-KR X 102761515 102761515 single base substitution T C upstream_gene_variant LUSC-US X 102755198 102755198 single base substitution T C missense_variant I163V 487A>G LUSC-US X 102755638 102755638 single base substitution T A missense_variant K16M 47A>T MALY-DE X 102750693 102750693 single base substitution G T downstream_gene_variant MALY-DE X 102764218 102764219 deletion of <=200bp TC - intron_variant MALY-DE X 102765200 102765200 single base substitution C A intron_variant MALY-DE X 102768824 102768825 deletion of <=200bp AC - intron_variant MALY-DE X 102773221 102773221 single base substitution A T intron_variant MALY-DE X 102773732 102773732 single base substitution C A intron_variant MELA-AU X 102750902 102750902 single base substitution G A downstream_gene_variant MELA-AU X 102751819 102751819 single base substitution C T downstream_gene_variant MELA-AU X 102751953 102751953 single base substitution G A downstream_gene_variant MELA-AU X 102751993 102751993 single base substitution C T downstream_gene_variant MELA-AU X 102752271 102752271 single base substitution G A downstream_gene_variant MELA-AU X 102752449 102752449 single base substitution G A downstream_gene_variant MELA-AU X 102753263 102753263 single base substitution G T downstream_gene_variant MELA-AU X 102754021 102754021 single base substitution C T downstream_gene_variant MELA-AU X 102754421 102754421 single base substitution G A downstream_gene_variant MELA-AU X 102755595 102755595 single base substitution G T synonymous_variant I30I 90C>A MELA-AU X 102756690 102756690 single base substitution C T 5_prime_UTR_variant MELA-AU X 102756690 102756690 single base substitution C T intron_variant MELA-AU X 102756736 102756736 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU X 102756736 102756736 single base substitution G A intron_variant MELA-AU X 102756811 102756811 single base substitution G A 5_prime_UTR_variant MELA-AU X 102756811 102756811 single base substitution G A intron_variant MELA-AU X 102756994 102756994 single base substitution G A 5_prime_UTR_variant MELA-AU X 102756994 102756994 single base substitution G A intron_variant MELA-AU X 102757000 102757000 single base substitution A G 5_prime_UTR_variant MELA-AU X 102757000 102757000 single base substitution A G intron_variant MELA-AU X 102757330 102757330 single base substitution G A 5_prime_UTR_variant MELA-AU X 102757330 102757330 single base substitution G A intron_variant MELA-AU X 102759139 102759139 single base substitution A C intron_variant MELA-AU X 102759139 102759139 single base substitution A C upstream_gene_variant MELA-AU X 102759184 102759184 single base substitution C T intron_variant MELA-AU X 102759184 102759184 single base substitution C T upstream_gene_variant MELA-AU X 102759242 102759242 single base substitution C T intron_variant MELA-AU X 102759242 102759242 single base substitution C T upstream_gene_variant MELA-AU X 102759904 102759904 single base substitution G A intron_variant MELA-AU X 102759904 102759904 single base substitution G A upstream_gene_variant MELA-AU X 102759919 102759919 single base substitution C T intron_variant MELA-AU X 102759919 102759919 single base substitution C T upstream_gene_variant MELA-AU X 102760014 102760014 single base substitution G A intron_variant MELA-AU X 102760014 102760014 single base substitution G A upstream_gene_variant MELA-AU X 102760022 102760022 single base substitution C T intron_variant MELA-AU X 102760022 102760022 single base substitution C T upstream_gene_variant MELA-AU X 102760187 102760187 single base substitution G A intron_variant MELA-AU X 102760187 102760187 single base substitution G A upstream_gene_variant MELA-AU X 102761509 102761509 single base substitution C T intron_variant MELA-AU X 102761509 102761509 single base substitution C T upstream_gene_variant MELA-AU X 102762348 102762348 single base substitution C T intron_variant MELA-AU X 102762348 102762348 single base substitution C T upstream_gene_variant MELA-AU X 102762439 102762439 single base substitution G A intron_variant MELA-AU X 102762439 102762439 single base substitution G A upstream_gene_variant MELA-AU X 102762641 102762641 single base substitution G A intron_variant MELA-AU X 102762641 102762641 single base substitution G A upstream_gene_variant MELA-AU X 102763155 102763155 single base substitution C T intron_variant MELA-AU X 102763677 102763677 single base substitution C T intron_variant MELA-AU X 102763965 102763965 single base substitution G A intron_variant MELA-AU X 102765261 102765261 single base substitution G A intron_variant MELA-AU X 102765984 102765984 single base substitution A G intron_variant MELA-AU X 102766594 102766594 single base substitution G A intron_variant MELA-AU X 102766782 102766782 single base substitution G A intron_variant MELA-AU X 102766866 102766866 single base substitution G A intron_variant MELA-AU X 102767539 102767539 single base substitution C T intron_variant MELA-AU X 102767808 102767808 single base substitution C T intron_variant MELA-AU X 102768414 102768414 single base substitution C T intron_variant MELA-AU X 102768647 102768647 single base substitution G A intron_variant MELA-AU X 102772222 102772222 single base substitution A C intron_variant MELA-AU X 102772415 102772415 single base substitution C T 5_prime_UTR_variant MELA-AU X 102772992 102772992 single base substitution T C intron_variant MELA-AU X 102773379 102773379 single base substitution G A intron_variant MELA-AU X 102774280 102774280 single base substitution G A intron_variant MELA-AU X 102774494 102774494 single base substitution G A upstream_gene_variant MELA-AU X 102775401 102775401 single base substitution C A upstream_gene_variant MELA-AU X 102776160 102776160 single base substitution C T upstream_gene_variant MELA-AU X 102776687 102776687 single base substitution G A upstream_gene_variant MELA-AU X 102777818 102777818 single base substitution G A upstream_gene_variant MELA-AU X 102778002 102778002 single base substitution C T upstream_gene_variant MELA-AU X 102778185 102778185 single base substitution C T upstream_gene_variant MELA-AU X 102778814 102778814 single base substitution G A upstream_gene_variant ORCA-IN X 102755668 102755668 single base substitution C A missense_variant S6I 17G>T OV-AU X 102758476 102758476 single base substitution C T intron_variant OV-AU X 102758476 102758476 single base substitution C T upstream_gene_variant OV-AU X 102761973 102761973 single base substitution A C intron_variant OV-AU X 102761973 102761973 single base substitution A C upstream_gene_variant OV-AU X 102763954 102763954 single base substitution C T intron_variant OV-AU X 102764241 102764241 single base substitution C G intron_variant OV-AU X 102778500 102778500 single base substitution G T upstream_gene_variant PACA-AU X 102750622 102750622 single base substitution A G downstream_gene_variant PACA-AU X 102754976 102754976 single base substitution G A stop_gained R237* 709C>T PACA-AU X 102755085 102755085 single base substitution G A synonymous_variant I200I 600C>T PACA-AU X 102755720 102755720 single base substitution G A 5_prime_UTR_variant PACA-AU X 102765033 102765057 deletion of <=200bp AAATATTCCTTTTAATGAACTCCTA - intron_variant PACA-AU X 102767136 102767136 single base substitution A T intron_variant PACA-AU X 102767569 102767569 deletion of <=200bp T - intron_variant PACA-AU X 102769653 102769653 single base substitution T C intron_variant PACA-AU X 102772891 102772891 single base substitution C T intron_variant PACA-CA X 102755008 102755008 single base substitution G T missense_variant S226Y 677C>A PACA-CA X 102760096 102760096 single base substitution T C intron_variant PACA-CA X 102760096 102760096 single base substitution T C upstream_gene_variant PACA-CA X 102761065 102761065 single base substitution T A intron_variant PACA-CA X 102761065 102761065 single base substitution T A upstream_gene_variant PACA-CA X 102761139 102761139 single base substitution A G intron_variant PACA-CA X 102761139 102761139 single base substitution A G upstream_gene_variant PACA-CA X 102766440 102766440 single base substitution G A intron_variant PACA-CA X 102766992 102766992 single base substitution A G intron_variant PACA-CA X 102767848 102767848 insertion of <=200bp - A intron_variant PACA-CA X 102771131 102771131 single base substitution G T intron_variant PACA-CA X 102772533 102772535 deletion of <=200bp TAT - intron_variant PACA-CA X 102775556 102775556 single base substitution T C upstream_gene_variant PACA-CA X 102778324 102778324 single base substitution A G upstream_gene_variant PACA-CA X 102778717 102778717 single base substitution G A upstream_gene_variant PAEN-AU X 102769993 102769993 single base substitution C A intron_variant PBCA-DE X 102764218 102764219 deletion of <=200bp TC - intron_variant PBCA-DE X 102764241 102764241 single base substitution C G intron_variant PBCA-DE X 102767400 102767400 single base substitution G A intron_variant PBCA-DE X 102768824 102768825 deletion of <=200bp AC - intron_variant PBCA-DE X 102770924 102770924 single base substitution G C intron_variant PBCA-DE X 102774573 102774573 single base substitution G A upstream_gene_variant READ-US X 102755475 102755475 single base substitution C T synonymous_variant T70T 210G>A SKCA-BR X 102754205 102754205 single base substitution A C downstream_gene_variant SKCA-BR X 102755480 102755480 single base substitution C A missense_variant D69Y 205G>T SKCA-BR X 102755984 102755984 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant SKCA-BR X 102755984 102755984 single base substitution C A intron_variant SKCA-BR X 102755985 102755985 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant SKCA-BR X 102755985 102755985 single base substitution T A intron_variant SKCA-BR X 102760532 102760532 single base substitution G A intron_variant SKCA-BR X 102760532 102760532 single base substitution G A upstream_gene_variant SKCA-BR X 102761973 102761973 single base substitution A C intron_variant SKCA-BR X 102761973 102761973 single base substitution A C upstream_gene_variant SKCA-BR X 102762930 102762930 single base substitution C T intron_variant SKCA-BR X 102763653 102763653 single base substitution C T intron_variant SKCA-BR X 102779416 102779416 single base substitution T C upstream_gene_variant SKCM-US X 102754975 102754975 single base substitution C T missense_variant R237Q 710G>A SKCM-US X 102755029 102755029 single base substitution C T missense_variant R219K 656G>A STAD-US X 102754895 102754895 single base substitution T G missense_variant S264R 790A>C STAD-US X 102755046 102755046 single base substitution C T synonymous_variant P213P 639G>A STAD-US X 102755054 102755054 single base substitution T C missense_variant K211E 631A>G STAD-US X 102755236 102755236 single base substitution A G missense_variant V150A 449T>C UCEC-US X 102754919 102754919 insertion of <=200bp - T frameshift_variant V256D? UCEC-US X 102754975 102754975 single base substitution C T missense_variant R237Q 710G>A UCEC-US X 102755248 102755248 single base substitution T C missense_variant E146G 437A>G UCEC-US X 102755289 102755289 single base substitution G A synonymous_variant F132F 396C>T UCEC-US X 102755390 102755390 single base substitution G A missense_variant R99C 295C>T UCEC-US X 102755393 102755393 single base substitution T C missense_variant N98D 292A>G UCEC-US X 102755443 102755443 single base substitution C T missense_variant R81H 242G>A UCEC-US X 102755472 102755472 single base substitution C T synonymous_variant S71S 213G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AP-A059-01 COSM1112270 c.213G>A p.S71S Substitution - coding silent 23:103500544-103500544 - TCGA-CG-5721-01 COSM4105500 c.790A>C p.S264R Substitution - Missense 23:103499967-103499967 - 8035755 COSM3390349 c.709C>T p.R237* Substitution - Nonsense 23:103500048-103500048 - TCGA-AA-3492-01 COSM1464547 c.583C>A p.L195I Substitution - Missense 23:103500174-103500174 - 8030137 COSM2735135 c.600C>T p.I200I Substitution - coding silent 23:103500157-103500157 - TCGA-D3-A5GU-06 COSM3556116 c.656G>A p.R219K Substitution - Missense 23:103500101-103500101 - TCGA-HC-7080-01 COSM3673308 c.643C>A p.P215T Substitution - Missense 23:103500114-103500114 - ESCC_BICR_022T COSM5443104 c.209C>T p.T70M Substitution - Missense 23:103500548-103500548 - YUKAT COSM5411597 c.687G>A p.K229K Substitution - coding silent 23:103500070-103500070 - TTC466 COSM4589090 c.28G>T p.A10S Substitution - Missense 23:103500729-103500729 - TCGA-66-2763-01 COSM754857 c.47A>T p.K16M Substitution - Missense 23:103500710-103500710 - TCGA-AP-A0LT-01 COSM1112262 c.765_766insA p.V256fs*>23 Insertion - Frameshift 23:103499991-103499992 - TCGA-B5-A11H-01 COSM1112266 c.396C>T p.F132F Substitution - coding silent 23:103500361-103500361 - SNUH_G16_S1 COSM2735146 c.282C>T p.Y94Y Substitution - coding silent 23:103500475-103500475 - S00501 COSM314650 c.658A>T p.S220C Substitution - Missense 23:103500099-103500099 - ESCC-D11 COSM5045293 c.739T>C p.S247P Substitution - Missense 23:103500018-103500018 - OSCC-GB_00640111 COSM4885218 c.17G>T p.S6I Substitution - Missense 23:103500740-103500740 - S02292 COSM5688282 c.470C>A p.P157H Substitution - Missense 23:103500287-103500287 - 587284 COSM1222946 c.296G>A p.R99H Substitution - Missense 23:103500461-103500461 - CR108 COSM4994733 c.11C>T p.P4L Substitution - Missense 23:103500746-103500746 - D38 COSM2735138 c.557C>T p.P186L Substitution - Missense 23:103500200-103500200 - S00833 COSM314651 c.731C>A p.T244N Substitution - Missense 23:103500026-103500026 - TCGA-AA-3712-01 COSM1464549 c.45C>G p.L15L Substitution - coding silent 23:103500712-103500712 - LUAD-5V8LT COSM403205 c.15C>A p.G5G Substitution - coding silent 23:103500742-103500742 - Pat_44_B COSM5876728 c.34G>T p.D12Y Substitution - Missense 23:103500723-103500723 - T3262 COSM4719839 c.63C>T p.G21G Substitution - coding silent 23:103500694-103500694 - SNUH_G76_S1 COSM4418747 c.435C>T p.A145A Substitution - coding silent 23:103500322-103500322 - Pat_40_A COSM5876727 c.830C>T p.S277F Substitution - Missense 23:103499927-103499927 - CHEWS032 COSM4589089 c.749_750insAAG p.K250_S251insR Insertion - In frame 23:103500007-103500008 - TCGA-BS-A0UV-01 COSM1112268 c.292A>G p.N98D Substitution - Missense 23:103500465-103500465 - Au4 COSM5604651 c.90C>A p.I30I Substitution - coding silent 23:103500667-103500667 - CN-AML-CR-46-Dx COSM2735146 c.282C>T p.Y94Y Substitution - coding silent 23:103500475-103500475 - TCGA-BP-4964-01 COSM487761 c.676T>C p.S226P Substitution - Missense 23:103500081-103500081 - ESCC_BICR_064T COSM5437175 c.310G>T p.G104C Substitution - Missense 23:103500447-103500447 - TCGA-A5-A0VP-01 COSM1112269 c.242G>A p.R81H Substitution - Missense 23:103500515-103500515 - TCGA-CD-5800-01 COSM4105501 c.639G>A p.P213P Substitution - coding silent 23:103500118-103500118 - LAU618 COSM233226 c.664C>T p.L222F Substitution - Missense 23:103500093-103500093 - TCGA-AM-5820-01 COSM3759319 c.134A>T p.H45L Substitution - Missense 23:103500623-103500623 - Pat_40_B COSM5876727 c.830C>T p.S277F Substitution - Missense 23:103499927-103499927 - RMS88_ COSM4988908 c.763A>G p.K255E Substitution - Missense 23:103499994-103499994 - RMS85_ COSM4988908 c.763A>G p.K255E Substitution - Missense 23:103499994-103499994 - pfg212T COSM4759582 c.214G>A p.G72R Substitution - Missense 23:103500543-103500543 - TCGA-66-2757-01 COSM754858 c.487A>G p.I163V Substitution - Missense 23:103500270-103500270 - TCGA-CC-A123-01 COSM4915289 c.119A>T p.E40V Substitution - Missense 23:103500638-103500638 - TCGA-A8-A07G-01 COSM456386 c.319C>T p.R107* Substitution - Nonsense 23:103500438-103500438 - STC297 COSM5064210 c.178G>A p.G60S Substitution - Missense 23:103500579-103500579 - TCGA-BG-A0M4-01 COSM1112263 c.762C>T p.C254C Substitution - coding silent 23:103499995-103499995 - Pat_44_B COSM5876729 c.28G>A p.A10T Substitution - Missense 23:103500729-103500729 - TCGA-EE-A3AF-06 COSM1112264 c.710G>A p.R237Q Substitution - Missense 23:103500047-103500047 - TCGA-B5-A11E-01 COSM1112267 c.295C>T p.R99C Substitution - Missense 23:103500462-103500462 - STC232 COSM5064211 c.15C>T p.G5G Substitution - coding silent 23:103500742-103500742 - YULAN COSM1715321 c.550_551GG>AA p.G184K Substitution - Missense 23:103500206-103500207 - TCGA-BR-8487-01 COSM4105503 c.449T>C p.V150A Substitution - Missense 23:103500308-103500308 - RMS2072 COSM5880815 c.671C>T p.S224F Substitution - Missense 23:103500086-103500086 - S00501 COSM314650 c.658A>T p.S220C Substitution - Missense 23:103500099-103500099 - sysucc-1116T COSM5483132 c.148G>A p.D50N Substitution - Missense 23:103500609-103500609 - TCGA-B6-A0I8-01 COSM456387 c.19C>A p.P7T Substitution - Missense 23:103500738-103500738 - TCGA-AP-A056-01 COSM1112264 c.710G>A p.R237Q Substitution - Missense 23:103500047-103500047 - TCGA-AP-A056-01 COSM1112265 c.437A>G p.E146G Substitution - Missense 23:103500320-103500320 - TCGA-41-3393-01 COSM1464548 c.177C>T p.D59D Substitution - coding silent 23:103500580-103500580 - TCGA-BH-A1FG-01 COSM1490281 c.184C>T p.R62W Substitution - Missense 23:103500573-103500573 - TCGA-AG-A00C-01 COSM289848 c.126G>A p.P42P Substitution - coding silent 23:103500631-103500631 - TCGA-F5-6814-01 COSM3424308 c.210G>A p.T70T Substitution - coding silent 23:103500547-103500547 - TCGA-D5-6529-01 COSM1464548 c.177C>T p.D59D Substitution - coding silent 23:103500580-103500580 - ZZUFHECRKL-G050T COSM456386 c.319C>T p.R107* Substitution - Nonsense 23:103500438-103500438 - YULONE COSM5411596 c.717C>T p.L239L Substitution - coding silent 23:103500040-103500040 - TCGA-BR-8080-01 COSM4105502 c.631A>G p.K211E Substitution - Missense 23:103500126-103500126 - S02139 COSM5674679 c.212C>A p.S71* Substitution - Nonsense 23:103500545-103500545 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.706901;Hs.706902;Hs.706903;Hs.706904 Xq22.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Synonymous p.T248T c.744T>C X 102754941 LUAD C A Missense p.D8Y c.22G>T X 102755663 HNSC C A Missense p.R179S c.537G>T X 102755148 BRCA C T 3-UTRSNV . c.831+42G>A X 102754812 CM C T Missense p.R237Q c.710G>A X 102754975 CM C T Missense p.R81H c.242G>A X 102755443 UCEC C T Synonymous p.G184G c.552G>A X 102755133 COREAD C T Synonymous p.P213P c.639G>A X 102755046 STAD C T Synonymous p.P42P c.126G>A X 102755559 COREAD G A Missense p.R62W c.184C>T X 102755501 BRCA G A Nonsense p.R107* c.319C>T X 102755366 BRCA G A Synonymous p.D59D c.177C>T X 102755508 GBM G A Synonymous p.F132F c.396C>T X 102755289 UCEC G T Missense p.P215T c.643C>A X 102755042 PRAD G T Missense p.P42Q c.125C>A X 102755560 LUAD G T Missense p.P7T c.19C>A X 102755666 BRCA G T Missense p.T244N c.731C>A X 102754954 SCLC T A Missense p.K16M c.47A>T X 102755638 LUSC T A Missense p.S220C c.658A>T X 102755027 SCLC T C Missense p.I163V c.487A>G X 102755198 LUSC T C Missense p.K66E c.196A>G X 102755489 STAD - T Frameshift p.V256Sfs*31 c.765dupA X 102754920 UCEC T G Missense p.I163L c.487A>C X 102755198 BRCA