Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 23 119005263 119005263 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 g.chrX:119005263G>A c.314C>T c.(313-315)tCg>tTg p.S105L BRCA 23 119004944 119004944 + Silent SNP G G A TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 g.chrX:119004944G>A c.633C>T c.(631-633)tgC>tgT p.C211C BRCA 23 119004955 119004955 + Missense_Mutation SNP T T C TCGA-AN-A0AM-01A-11W-A050-09 TCGA-AN-A0AM-10A-01W-A055-09 g.chrX:119004955T>C c.622A>G c.(622-624)Act>Gct p.T208A BRCA 23 119005097 119005097 + Missense_Mutation SNP C C A TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 g.chrX:119005097C>A c.480G>T c.(478-480)caG>caT p.Q160H BRCA 23 119005192 119005192 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 g.chrX:119005192C>T c.385G>A c.(385-387)Gat>Aat p.D129N BRCA 23 119005193 119005193 + Silent SNP G G A TCGA-B6-A0RG-01A-11W-A071-09 TCGA-B6-A0RG-10A-01W-A071-09 g.chrX:119005193G>A c.384C>T c.(382-384)cgC>cgT p.R128R BRCA 23 119005194 119005194 + Missense_Mutation SNP C C T TCGA-GM-A2DH-01A-11D-A17W-09 TCGA-GM-A2DH-10C-01D-A17W-09 g.chrX:119005194C>T c.383G>A c.(382-384)cGc>cAc p.R128H BRCA 23 119005243 119005243 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chrX:119005243C>G c.334G>C c.(334-336)Gag>Cag p.E112Q BRCA 23 119005376 119005376 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chrX:119005376T>C c.201A>G c.(199-201)atA>atG p.I67M CESC 23 119004829 119004829 + Missense_Mutation SNP C C G TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 g.chrX:119004829C>G c.748G>C c.(748-750)Gaa>Caa p.E250Q CESC 23 119005291 119005291 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 g.chrX:119005291G>C c.286C>G c.(286-288)Ctc>Gtc p.L96V COAD 23 119004606 119004606 + Missense_Mutation SNP C C G TCGA-DM-A0X9-01A-11D-A152-10 TCGA-DM-A0X9-10A-01D-A152-10 g.chrX:119004606C>G c.971G>C c.(970-972)gGa>gCa p.G324A COAD 23 119005318 119005318 + Missense_Mutation SNP C C T TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chrX:119005318C>T c.259G>A c.(259-261)Gag>Aag p.E87K COADREAD 23 119004606 119004606 + Missense_Mutation SNP C C G TCGA-DM-A0X9-01A-11D-A152-10 TCGA-DM-A0X9-10A-01D-A152-10 g.chrX:119004606C>G c.971G>C c.(970-972)gGa>gCa p.G324A COADREAD 23 119005318 119005318 + Missense_Mutation SNP C C T TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chrX:119005318C>T c.259G>A c.(259-261)Gag>Aag p.E87K ESCA 23 119005267 119005267 + Missense_Mutation SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 g.chrX:119005267G>A c.310C>T c.(310-312)Cgt>Tgt p.R104C GBM 23 119004909 119004909 + Missense_Mutation SNP C C T TCGA-19-2619-01A-01D-1495-08 TCGA-19-2619-10A-01D-1495-08 g.chrX:119004909C>T c.668G>A c.(667-669)cGt>cAt p.R223H GBM 23 119005259 119005259 + Silent SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 g.chrX:119005259C>T c.318G>A c.(316-318)gcG>gcA p.A106A GBMLGG 23 119004589 119004589 + Missense_Mutation SNP C C T TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 g.chrX:119004589C>T c.988G>A c.(988-990)Gac>Aac p.D330N GBMLGG 23 119004909 119004909 + Missense_Mutation SNP C C T TCGA-19-2619-01A-01D-1495-08 TCGA-19-2619-10A-01D-1495-08 g.chrX:119004909C>T c.668G>A c.(667-669)cGt>cAt p.R223H GBMLGG 23 119005259 119005259 + Silent SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 g.chrX:119005259C>T c.318G>A c.(316-318)gcG>gcA p.A106A HNSC 23 119005174 119005174 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chrX:119005174C>T c.403G>A c.(403-405)Gag>Aag p.E135K HNSC 23 119005206 119005206 + Missense_Mutation SNP G G A TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 g.chrX:119005206G>A c.371C>T c.(370-372)aCa>aTa p.T124I HNSC 23 119005250 119005250 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chrX:119005250C>T c.327G>A c.(325-327)gtG>gtA p.V109V HNSC 23 119005303 119005303 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chrX:119005303C>T c.274G>A c.(274-276)Gag>Aag p.E92K HNSC 23 119005408 119005408 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chrX:119005408C>T c.169G>A c.(169-171)Gaa>Aaa p.E57K KIPAN 23 119004755 119004755 + Silent SNP G G A TCGA-BP-5001-01A-01D-1462-08 TCGA-BP-5001-11A-01D-1462-08 g.chrX:119004755G>A c.822C>T c.(820-822)gtC>gtT p.V274V KIRC 23 119004755 119004755 + Silent SNP G G A TCGA-BP-5001-01A-01D-1462-08 TCGA-BP-5001-11A-01D-1462-08 g.chrX:119004755G>A c.822C>T c.(820-822)gtC>gtT p.V274V LGG 23 119004589 119004589 + Missense_Mutation SNP C C T TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 g.chrX:119004589C>T c.988G>A c.(988-990)Gac>Aac p.D330N LIHC 23 119005199 119005199 + Silent SNP T T C TCGA-DD-AADU-01A-11D-A40R-10 TCGA-DD-AADU-10A-01D-A40U-10 g.chrX:119005199T>C c.378A>G c.(376-378)aaA>aaG p.K126K LIHC 23 119005302 119005302 + Missense_Mutation SNP T T A TCGA-DD-A4ND-01A-11D-A25V-10 TCGA-DD-A4ND-11A-11D-A25V-10 g.chrX:119005302T>A c.275A>T c.(274-276)gAg>gTg p.E92V LUAD 23 119004598 119004598 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 g.chrX:119004598C>A c.979G>T c.(979-981)Ggt>Tgt p.G327C LUAD 23 119004824 119004824 + Silent SNP C C A TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chrX:119004824C>A c.753G>T c.(751-753)gtG>gtT p.V251V LUAD 23 119005003 119005003 + Missense_Mutation SNP T T C TCGA-97-8547-01A-11D-2393-08 TCGA-97-8547-10A-01D-2393-08 g.chrX:119005003T>C c.574A>G c.(574-576)Acc>Gcc p.T192A LUAD 23 119005192 119005192 + Missense_Mutation SNP C C T TCGA-55-8204-01A-11D-2238-08 TCGA-55-8204-10A-01D-2238-08 g.chrX:119005192C>T c.385G>A c.(385-387)Gat>Aat p.D129N LUAD 23 119005283 119005283 + Silent SNP C C A TCGA-78-8655-01A-11D-2393-08 TCGA-78-8655-10A-01D-2393-08 g.chrX:119005283C>A c.294G>T c.(292-294)gtG>gtT p.V98V LUAD 23 119005295 119005295 + Missense_Mutation SNP C C G TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chrX:119005295C>G c.282G>C c.(280-282)gaG>gaC p.E94D LUAD 23 119005322 119005322 + Silent SNP G G A TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 g.chrX:119005322G>A c.255C>T c.(253-255)agC>agT p.S85S LUAD 23 119005484 119005484 + Silent SNP T T C TCGA-L9-A444-01A-21D-A24D-08 TCGA-L9-A444-10A-01D-A24F-08 g.chrX:119005484T>C c.93A>G c.(91-93)agA>agG p.R31R LUAD 23 119005489 119005489 + Missense_Mutation SNP G G A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 g.chrX:119005489G>A c.88C>T c.(88-90)Cgc>Tgc p.R30C LUAD 23 119005497 119005497 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 g.chrX:119005497G>T c.80C>A c.(79-81)gCt>gAt p.A27D LUSC 23 119004853 119004853 + Missense_Mutation SNP C C T TCGA-34-2600-01A-01D-1522-08 TCGA-34-2600-11A-01D-1522-08 g.chrX:119004853C>T c.724G>A c.(724-726)Ggt>Agt p.G242S LUSC 23 119005420 119005420 + Missense_Mutation SNP C C T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 g.chrX:119005420C>T c.157G>A c.(157-159)Gtg>Atg p.V53M PRAD 23 119005303 119005303 + Missense_Mutation SNP C C T TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 g.chrX:119005303C>T c.274G>A c.(274-276)Gag>Aag p.E92K SARC 23 119005266 119005266 + Missense_Mutation SNP C C T TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 g.chrX:119005266C>T c.311G>A c.(310-312)cGt>cAt p.R104H

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US X 119004535 119004535 single base substitution T C 3_prime_UTR_variant BLCA-CN X 119004933 119004933 single base substitution T G missense_variant D215A 644A>C BLCA-CN X 119005088 119005088 single base substitution C T missense_variant M163I 489G>A BLCA-CN X 119005297 119005297 single base substitution C T missense_variant E94K 280G>A BLCA-CN X 119005328 119005328 single base substitution C G missense_variant L83F 249G>C BLCA-US X 119005263 119005263 single base substitution G A missense_variant S105L 314C>T BRCA-EU X 119000089 119000089 single base substitution T G downstream_gene_variant BRCA-EU X 119000934 119000934 single base substitution G A downstream_gene_variant BRCA-EU X 119000974 119000974 single base substitution A T downstream_gene_variant BRCA-EU X 119001426 119001426 single base substitution C A downstream_gene_variant BRCA-EU X 119001920 119001920 single base substitution T C downstream_gene_variant BRCA-EU X 119002911 119002911 single base substitution G A downstream_gene_variant BRCA-EU X 119002935 119002935 single base substitution G T downstream_gene_variant BRCA-EU X 119003053 119003053 single base substitution G C downstream_gene_variant BRCA-EU X 119003377 119003377 single base substitution C A downstream_gene_variant BRCA-EU X 119003936 119003936 single base substitution C T downstream_gene_variant BRCA-EU X 119004039 119004039 single base substitution G A downstream_gene_variant BRCA-EU X 119004616 119004616 single base substitution G A stop_gained R321* 961C>T BRCA-EU X 119004818 119004818 single base substitution G A synonymous_variant S253S 759C>T BRCA-EU X 119005520 119005520 single base substitution G C missense_variant F19L 57C>G BRCA-EU X 119005581 119005581 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU X 119005685 119005685 single base substitution C T 5_prime_UTR_variant BRCA-EU X 119005743 119005743 single base substitution C T 5_prime_UTR_variant BRCA-EU X 119005934 119005934 single base substitution A T upstream_gene_variant BRCA-EU X 119006069 119006069 single base substitution C T upstream_gene_variant BRCA-EU X 119007188 119007188 single base substitution C T upstream_gene_variant BRCA-EU X 119007718 119007718 single base substitution C T upstream_gene_variant BRCA-EU X 119008685 119008685 deletion of <=200bp A - upstream_gene_variant BRCA-EU X 119009686 119009686 single base substitution C G upstream_gene_variant BRCA-EU X 119009968 119009968 single base substitution G C upstream_gene_variant BRCA-EU X 119010434 119010434 single base substitution G C upstream_gene_variant BRCA-EU X 119010705 119010705 single base substitution A G upstream_gene_variant BRCA-FR X 119002935 119002935 single base substitution G T downstream_gene_variant BRCA-FR X 119005520 119005520 single base substitution G C missense_variant F19L 57C>G BRCA-FR X 119005581 119005581 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-UK X 119004906 119004906 single base substitution G A missense_variant S224L 671C>T BRCA-US X 119004944 119004944 single base substitution G A synonymous_variant C211C 633C>T BRCA-US X 119004955 119004955 single base substitution T C missense_variant T208A 622A>G BRCA-US X 119005097 119005097 single base substitution C A missense_variant Q160H 480G>T BRCA-US X 119005192 119005192 single base substitution C T missense_variant D129N 385G>A BRCA-US X 119005193 119005193 single base substitution G A synonymous_variant R128R 384C>T BRCA-US X 119005194 119005194 single base substitution C T missense_variant R128H 383G>A BRCA-US X 119005243 119005243 single base substitution C G missense_variant E112Q 334G>C BRCA-US X 119005376 119005376 single base substitution T C missense_variant I67M 201A>G BRCA-US X 119005892 119005892 single base substitution C T upstream_gene_variant BRCA-US X 119005895 119005895 single base substitution C T upstream_gene_variant BRCA-US X 119005896 119005896 single base substitution G A upstream_gene_variant BRCA-US X 119007279 119007279 single base substitution G A upstream_gene_variant BTCA-JP X 119010457 119010457 single base substitution C T upstream_gene_variant CESC-US X 119004829 119004829 single base substitution C G missense_variant E250Q 748G>C CESC-US X 119005291 119005291 single base substitution G C missense_variant L96V 286C>G CESC-US X 119007294 119007294 single base substitution C A upstream_gene_variant CLLE-ES X 119004705 119004705 single base substitution C T missense_variant R291H 872G>A CLLE-ES X 119005484 119005484 single base substitution T C synonymous_variant R31R 93A>G CLLE-ES X 119009263 119009263 single base substitution T C upstream_gene_variant COAD-US X 119004756 119004756 single base substitution A C missense_variant V274G 821T>G COAD-US X 119005074 119005074 single base substitution G A missense_variant T168M 503C>T COCA-CN X 119004426 119004426 single base substitution T C downstream_gene_variant COCA-CN X 119004508 119004508 single base substitution A C 3_prime_UTR_variant COCA-CN X 119004780 119004780 single base substitution C T missense_variant R266H 797G>A COCA-CN X 119005041 119005041 single base substitution C A missense_variant R179M 536G>T COCA-CN X 119007243 119007243 single base substitution A G upstream_gene_variant COCA-CN X 119007476 119007476 single base substitution G T upstream_gene_variant GBM-US X 119004909 119004909 single base substitution C T missense_variant R223H 668G>A GBM-US X 119005259 119005259 single base substitution C T synonymous_variant A106A 318G>A KIRC-US X 119004755 119004755 single base substitution G A synonymous_variant V274V 822C>T KIRC-US X 119005937 119005937 single base substitution G A upstream_gene_variant LICA-FR X 119005167 119005167 single base substitution C T missense_variant S137N 410G>A LICA-FR X 119008817 119008817 single base substitution A T upstream_gene_variant LIHC-US X 119005302 119005302 single base substitution T A missense_variant E92V 275A>T LINC-JP X 119007193 119007193 single base substitution T G upstream_gene_variant LINC-JP X 119007655 119007655 single base substitution A G upstream_gene_variant LIRI-JP X 119002214 119002214 single base substitution C T downstream_gene_variant LIRI-JP X 119009064 119009064 insertion of <=200bp - TC upstream_gene_variant LIRI-JP X 119010244 119010244 single base substitution T C upstream_gene_variant LUSC-KR X 119005587 119005587 single base substitution T C 5_prime_UTR_variant LUSC-KR X 119007190 119007190 single base substitution C T upstream_gene_variant LUSC-KR X 119007229 119007229 single base substitution T G upstream_gene_variant LUSC-KR X 119010427 119010427 single base substitution C A upstream_gene_variant LUSC-US X 119004853 119004853 single base substitution C T missense_variant G242S 724G>A LUSC-US X 119005420 119005420 single base substitution C T missense_variant V53M 157G>A MALY-DE X 119005640 119005640 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MALY-DE X 119008611 119008611 single base substitution C T upstream_gene_variant MALY-DE X 119009229 119009229 single base substitution T C upstream_gene_variant MELA-AU X 118999857 118999857 single base substitution C T downstream_gene_variant MELA-AU X 119000092 119000092 single base substitution G A downstream_gene_variant MELA-AU X 119000106 119000106 single base substitution G A downstream_gene_variant MELA-AU X 119000427 119000427 single base substitution C A downstream_gene_variant MELA-AU X 119000465 119000465 single base substitution G A downstream_gene_variant MELA-AU X 119000831 119000831 single base substitution C T downstream_gene_variant MELA-AU X 119001034 119001034 single base substitution T G downstream_gene_variant MELA-AU X 119002249 119002249 single base substitution C T downstream_gene_variant MELA-AU X 119002611 119002611 single base substitution G A downstream_gene_variant MELA-AU X 119003895 119003895 single base substitution A T downstream_gene_variant MELA-AU X 119004407 119004407 single base substitution C A downstream_gene_variant MELA-AU X 119004822 119004822 single base substitution C T missense_variant G252E 755G>A MELA-AU X 119006027 119006028 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU X 119006488 119006488 single base substitution G A upstream_gene_variant MELA-AU X 119006534 119006534 single base substitution C T upstream_gene_variant MELA-AU X 119006574 119006574 single base substitution C T upstream_gene_variant MELA-AU X 119006610 119006610 single base substitution C T upstream_gene_variant MELA-AU X 119006738 119006738 single base substitution C T upstream_gene_variant MELA-AU X 119007022 119007022 single base substitution T A upstream_gene_variant MELA-AU X 119007237 119007237 single base substitution A G upstream_gene_variant MELA-AU X 119007267 119007267 single base substitution G A upstream_gene_variant MELA-AU X 119008220 119008220 single base substitution G A upstream_gene_variant MELA-AU X 119008481 119008481 single base substitution C T upstream_gene_variant MELA-AU X 119008580 119008580 single base substitution T C upstream_gene_variant MELA-AU X 119008719 119008720 multiple base substitution (>=2bp and <=200bp) TT GG upstream_gene_variant MELA-AU X 119009900 119009900 single base substitution G A upstream_gene_variant MELA-AU X 119009904 119009904 single base substitution A C upstream_gene_variant MELA-AU X 119010364 119010364 single base substitution G A upstream_gene_variant MELA-AU X 119010577 119010577 single base substitution T C upstream_gene_variant MELA-AU X 119010654 119010654 single base substitution C G upstream_gene_variant MELA-AU X 119010670 119010670 single base substitution A T upstream_gene_variant ORCA-IN X 119001788 119001788 single base substitution G T downstream_gene_variant ORCA-IN X 119005397 119005397 single base substitution C T synonymous_variant R60R 180G>A OV-AU X 118999574 118999574 single base substitution G C downstream_gene_variant OV-AU X 119006020 119006020 single base substitution C G upstream_gene_variant OV-AU X 119008001 119008001 single base substitution A G upstream_gene_variant PACA-AU X 119005052 119005052 single base substitution G A synonymous_variant S175S 525C>T PACA-AU X 119005303 119005303 single base substitution C A stop_gained E92* 274G>T PACA-AU X 119005436 119005436 single base substitution G A synonymous_variant S47S 141C>T PACA-AU X 119007377 119007377 single base substitution C T upstream_gene_variant PACA-CA X 119001713 119001713 single base substitution G C downstream_gene_variant PACA-CA X 119003625 119003630 deletion of <=200bp CAGACA - downstream_gene_variant PACA-CA X 119005366 119005366 single base substitution G A missense_variant R71C 211C>T PACA-CA X 119005874 119005874 single base substitution G C upstream_gene_variant PACA-CA X 119008552 119008552 single base substitution C T upstream_gene_variant PBCA-DE X 118999884 118999884 single base substitution A T downstream_gene_variant PBCA-DE X 119007022 119007022 single base substitution T A upstream_gene_variant PBCA-DE X 119010642 119010642 single base substitution A T upstream_gene_variant PRAD-UK X 119002416 119002416 single base substitution T G downstream_gene_variant READ-US X 119005978 119005978 single base substitution T A upstream_gene_variant RECA-EU X 119000110 119000110 single base substitution T C downstream_gene_variant RECA-EU X 119008890 119008890 single base substitution A G upstream_gene_variant SKCA-BR X 119000191 119000191 insertion of <=200bp - CT downstream_gene_variant SKCA-BR X 119008282 119008282 single base substitution A T upstream_gene_variant SKCA-BR X 119009710 119009710 single base substitution C T upstream_gene_variant STAD-US X 119005267 119005267 single base substitution G T missense_variant R104S 310C>A STAD-US X 119005489 119005489 single base substitution G A missense_variant R30C 88C>T STAD-US X 119007297 119007297 single base substitution T C upstream_gene_variant UCEC-US X 119004652 119004652 single base substitution G A missense_variant P309S 925C>T UCEC-US X 119004938 119004938 single base substitution G A synonymous_variant F213F 639C>T UCEC-US X 119005117 119005117 single base substitution G A missense_variant R154W 460C>T UCEC-US X 119005121 119005121 single base substitution G A synonymous_variant I152I 456C>T UCEC-US X 119005193 119005193 single base substitution G A synonymous_variant R128R 384C>T UCEC-US X 119005256 119005256 single base substitution T C synonymous_variant K107K 321A>G UCEC-US X 119005309 119005309 single base substitution C A stop_gained E90* 268G>T UCEC-US X 119005322 119005322 single base substitution G A synonymous_variant S85S 255C>T UCEC-US X 119005432 119005432 single base substitution C T missense_variant E49K 145G>A UCEC-US X 119005480 119005480 single base substitution G A missense_variant R33C 97C>T UCEC-US X 119005560 119005560 single base substitution G A missense_variant S6F 17C>T UCEC-US X 119007339 119007339 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand B114 COSM1756367 c.249G>C p.L83F Substitution - Missense 23:119871365-119871365 - TCGA-D1-A103-01 COSM1113943 c.925C>T p.P309S Substitution - Missense 23:119870689-119870689 - 76629543 COSM1582804 c.802A>T p.S268C Substitution - Missense 23:119870812-119870812 - TCGA-AP-A0LD-01 COSM1113947 c.321A>G p.K107K Substitution - coding silent 23:119871293-119871293 - TCGA-BR-6452-01 COSM4106211 c.88C>T p.R30C Substitution - Missense 23:119871526-119871526 - T204 COSM4721951 c.504G>A p.T168T Substitution - coding silent 23:119871110-119871110 - TCGA-AN-A0AM-01 COSM456613 c.622A>G p.T208A Substitution - Missense 23:119870992-119870992 - TCGA-AC-A23H-01 COSM3843391 c.334G>C p.E112Q Substitution - Missense 23:119871280-119871280 - Gp2D COSM2723673 c.311G>A p.R104H Substitution - Missense 23:119871303-119871303 - TCGA-19-2619 COSM2156168 c.668G>A p.R223H Substitution - Missense 23:119870946-119870946 - RMH004-R4 COSM4411353 c.831C>G p.C277W Substitution - Missense 23:119870783-119870783 - TCGA-AP-A0LM-01 COSM1113950 c.145G>A p.E49K Substitution - Missense 23:119871469-119871469 - TCGA-34-2600-01 COSM755640 c.724G>A p.G242S Substitution - Missense 23:119870890-119870890 - TCGA-CK-5916-01 COSM3694185 c.503C>T p.T168M Substitution - Missense 23:119871111-119871111 - CHC892T COSM4794554 c.410G>A p.S137N Substitution - Missense 23:119871204-119871204 - B83 COSM1756366 c.280G>A p.E94K Substitution - Missense 23:119871334-119871334 - PD4125a COSM164034 c.671C>T p.S224L Substitution - Missense 23:119870943-119870943 - 1425-01-01TD COSM5418741 c.93A>G p.R31R Substitution - coding silent 23:119871521-119871521 - 134413 COSM326376 c.599A>G p.D200G Substitution - Missense 23:119871015-119871015 - TCGA-EX-A69L-01 COSM4854781 c.748G>C p.E250Q Substitution - Missense 23:119870866-119870866 - B74 COSM1756364 c.644A>C p.D215A Substitution - Missense 23:119870970-119870970 - OSCC-GB_01280111 COSM5954226 c.180G>A p.R60R Substitution - coding silent 23:119871434-119871434 - TCGA-AN-A0AK-01 COSM3843392 c.201A>G p.I67M Substitution - Missense 23:119871413-119871413 - 8035288 COSM388337 c.274G>T p.E92* Substitution - Nonsense 23:119871340-119871340 - TCGA-B5-A0K2-01 COSM456616 c.384C>T p.R128R Substitution - coding silent 23:119871230-119871230 - TCGA-34-5240-01 COSM755639 c.157G>A p.V53M Substitution - Missense 23:119871457-119871457 - HCC2157 COSM25536 c.82G>A p.A28T Substitution - Missense 23:119871532-119871532 - TCGA-A5-A0GW-01 COSM1113949 c.255C>T p.S85S Substitution - coding silent 23:119871359-119871359 - T3064 COSM4721949 c.871C>T p.R291C Substitution - Missense 23:119870743-119870743 - ATL011 COSM2723668 c.547A>G p.I183V Substitution - Missense 23:119871067-119871067 - TCGA-B5-A11E-01 COSM1113951 c.97C>T p.R33C Substitution - Missense 23:119871517-119871517 - QC2-35-T2 COSM5655181 c.381G>A p.E127E Substitution - coding silent 23:119871233-119871233 - S00035 COSM5701551 c.108_109CG>AA p.C36_D37>* Complex - deletion inframe 23:119871505-119871506 - Gp5D COSM2723673 c.311G>A p.R104H Substitution - Missense 23:119871303-119871303 - TCGA-19-2619-01 COSM2156168 c.668G>A p.R223H Substitution - Missense 23:119870946-119870946 - TCGA-BS-A0UF-01 COSM1113952 c.17C>T p.S6F Substitution - Missense 23:119871597-119871597 - S02354 COSM5695695 c.458A>G p.Y153C Substitution - Missense 23:119871156-119871156 - TCGA-BP-5001-01 COSM487871 c.822C>T p.V274V Substitution - coding silent 23:119870792-119870792 - B74-Tumor COSM1756364 c.644A>C p.D215A Substitution - Missense 23:119870970-119870970 - 8015299 COSM3781530 c.525C>T p.S175S Substitution - coding silent 23:119871089-119871089 - TCGA-DK-A2I6-01 COSM1315147 c.314C>T p.S105L Substitution - Missense 23:119871300-119871300 - 280 COSM145877 c.872G>A p.R291H Substitution - Missense 23:119870742-119870742 - T263 COSM4721950 c.759C>T p.S253S Substitution - coding silent 23:119870855-119870855 - TP_2060 COSM5549637 c.105C>T p.A35A Substitution - coding silent 23:119871509-119871509 - TCGA-06-0939 COSM2152380 c.318G>A p.A106A Substitution - coding silent 23:119871296-119871296 - PCSI_0002_Pa_X COSM216850 c.211C>T p.R71C Substitution - Missense 23:119871403-119871403 - TCGA-GM-A2DH-01 COSM3843390 c.383G>A p.R128H Substitution - Missense 23:119871231-119871231 - TCGA-BR-A4QL-01 COSM4106210 c.310C>A p.R104S Substitution - Missense 23:119871304-119871304 - S01542 COSM5669812 c.460C>A p.R154R Substitution - coding silent 23:119871154-119871154 - TCGA-AP-A056-01 COSM1113946 c.456C>T p.I152I Substitution - coding silent 23:119871158-119871158 - TCGA-AP-A0LM-01 COSM1113948 c.268G>T p.E90* Substitution - Nonsense 23:119871346-119871346 - TCGA-CA-6717-01 COSM3694304 c.821T>G p.V274G Substitution - Missense 23:119870793-119870793 - EGC8 COSM5064310 c.854G>A p.C285Y Substitution - Missense 23:119870760-119870760 - 8014187 COSM1169181 c.141C>T p.S47S Substitution - coding silent 23:119871473-119871473 - HCT-15 COSM1682838 c.437G>C p.G146A Substitution - Missense 23:119871177-119871177 - 2168 COSM5016760 c.937_942delTTGATT p.L313_I314delLI Deletion - In frame 23:119870672-119870677 - TCGA-BH-A0DZ-01 COSM456615 c.385G>A p.D129N Substitution - Missense 23:119871229-119871229 - HCT15 COSM1682838 c.437G>C p.G146A Substitution - Missense 23:119871177-119871177 - sysucc-1317T COSM5450617 c.536G>T p.R179M Substitution - Missense 23:119871078-119871078 - TCGA-B5-A11E-01 COSM1113944 c.639C>T p.F213F Substitution - coding silent 23:119870975-119870975 - TCGA-E2-A154-01 COSM456614 c.480G>T p.Q160H Substitution - Missense 23:119871134-119871134 - 280-01-4TD COSM145877 c.872G>A p.R291H Substitution - Missense 23:119870742-119870742 - TCGA-06-0939-01 COSM2152380 c.318G>A p.A106A Substitution - coding silent 23:119871296-119871296 - EGC8 COSM5064311 c.317C>T p.A106V Substitution - Missense 23:119871297-119871297 - PCSI_0002_Pa_P COSM216850 c.211C>T p.R71C Substitution - Missense 23:119871403-119871403 - TCGA-BS-A0UV-01 COSM1113945 c.460C>T p.R154W Substitution - Missense 23:119871154-119871154 - 1N30-VS-1T30 COSM4974180 c.442G>T p.E148* Substitution - Nonsense 23:119871172-119871172 - LUAD-F00368 COSM367799 c.884G>T p.R295L Substitution - Missense 23:119870730-119870730 - B34 COSM1756365 c.489G>A p.M163I Substitution - Missense 23:119871125-119871125 - TCGA-OL-A5D8-01 COSM2723662 c.633C>T p.C211C Substitution - coding silent 23:119870981-119870981 - SC_9100 COSM5563072 c.277C>T p.P93S Substitution - Missense 23:119871337-119871337 - pfg125T COSM1756366 c.280G>A p.E94K Substitution - Missense 23:119871334-119871334 - TCGA-DD-A4ND-01 COSM4935040 c.275A>T p.E92V Substitution - Missense 23:119871339-119871339 - HCC2157 COSM25536 c.82G>A p.A28T Substitution - Missense 23:119871532-119871532 - CHC892T COSM4794554 c.410G>A p.S137N Substitution - Missense 23:119871204-119871204 - PCSI0002 COSM216850 c.211C>T p.R71C Substitution - Missense 23:119871403-119871403 - SC_9020 COSM5556200 c.289G>A p.G97S Substitution - Missense 23:119871325-119871325 - TCGA-B6-A0RG-01 COSM456616 c.384C>T p.R128R Substitution - coding silent 23:119871230-119871230 - B114-Tumor COSM1756367 c.249G>C p.L83F Substitution - Missense 23:119871365-119871365 - CACO2 COSM2723651 c.775C>T p.P259S Substitution - Missense 23:119870839-119870839 - QC2-42-T2 COSM5656287 c.715G>A p.G239S Substitution - Missense 23:119870899-119870899 - SNUH_G15_S1 COSM3681522 c.333A>C p.P111P Substitution - coding silent 23:119871281-119871281 - 387 COSM4427363 c.962G>A p.R321Q Substitution - Missense 23:119870652-119870652 - B83-Tumor COSM1756366 c.280G>A p.E94K Substitution - Missense 23:119871334-119871334 - 587226 COSM1223886 c.881C>T p.P294L Substitution - Missense 23:119870733-119870733 - B34-Tumor COSM1756365 c.489G>A p.M163I Substitution - Missense 23:119871125-119871125 - LUAD-S01413 COSM388337 c.274G>T p.E92* Substitution - Nonsense 23:119871340-119871340 - TCGA-C5-A1M6-01 COSM4826714 c.286C>G p.L96V Substitution - Missense 23:119871328-119871328 - 2293782 COSM4609492 c.648C>A p.S216R Substitution - Missense 23:119870966-119870966 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.458365 Xq25-q26

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.Y100H c.298T>C X 119005279 CM C A Missense p.E187D c.561G>T X 119005016 LUAD C A Missense p.G327C c.979G>T X 119004598 LUAD C A Missense p.Q160H c.480G>T X 119005097 BRCA C T Missense p.E135K c.403G>A X 119005174 HNSC C T Missense p.E57K c.169G>A X 119005408 HNSC C T Missense p.E92K c.274G>A X 119005303 HNSC C T Missense p.G115E c.344G>A X 119005233 CM C T Missense p.G242S c.724G>A X 119004853 LUSC C T Missense p.R223H c.668G>A X 119004909 GBM C T Missense p.R291H c.872G>A X 119004705 CLL C T Missense p.V53M c.157G>A X 119005420 LUSC C T Synonymous p.A106A c.318G>A X 119005259 GBM C T Synonymous p.A116A c.348G>A X 119005229 CM C T Synonymous p.V109V c.327G>A X 119005250 HNSC G A Missense p.R71C c.211C>T X 119005366 PAAD G A Missense p.S105L c.314C>T X 119005263 BLCA G A Missense p.S224L c.671C>T X 119004906 BRCA G A Synonymous p.P108P c.324C>T X 119005253 CM G A Synonymous p.R128R c.384C>T X 119005193 BRCA G A Synonymous p.R128R c.384C>T X 119005193 UCEC G A Synonymous p.S85S c.255C>T X 119005322 UCEC G A Synonymous p.V274V c.822C>T X 119004755 RCCC G T Synonymous p.L96L c.288C>A X 119005289 CM T C Missense p.D200G c.599A>G X 119004978 SCLC T C Missense p.T208A c.622A>G X 119004955 BRCA T C Synonymous p.K107K c.321A>G X 119005256 UCEC