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 22 18640584 18640584 + Missense_Mutation SNP C C T TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr22:18640584C>T c.154C>T c.(154-156)Cat>Tat p.H52Y BLCA 22 18650696 18650696 + Missense_Mutation SNP G G A TCGA-FD-A6TG-01A-11D-A32B-08 TCGA-FD-A6TG-10A-01D-A329-08 g.chr22:18650696G>A c.520G>A c.(520-522)Gac>Aac p.D174N CESC 22 18640517 18640517 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr22:18640517G>C c.87G>C c.(85-87)aaG>aaC p.K29N COAD 22 18640560 18640560 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr22:18640560C>T c.130C>T c.(130-132)Cgt>Tgt p.R44C COAD 22 18650096 18650096 + Missense_Mutation SNP C C A TCGA-CM-4744-01A-01D-1408-10 TCGA-CM-4744-10A-01D-1408-10 g.chr22:18650096C>A c.475C>A c.(475-477)Cac>Aac p.H159N COADREAD 22 18640560 18640560 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr22:18640560C>T c.130C>T c.(130-132)Cgt>Tgt p.R44C COADREAD 22 18640570 18640570 + Missense_Mutation SNP C C T TCGA-AG-3894-01A-01W-1073-09 TCGA-AG-3894-10A-01W-1073-09 g.chr22:18640570C>T c.140C>T c.(139-141)gCc>gTc p.A47V COADREAD 22 18650096 18650096 + Missense_Mutation SNP C C A TCGA-CM-4744-01A-01D-1408-10 TCGA-CM-4744-10A-01D-1408-10 g.chr22:18650096C>A c.475C>A c.(475-477)Cac>Aac p.H159N COADREAD 22 18656570 18656570 + Missense_Mutation SNP A A G TCGA-CL-5917-01A-11D-1657-10 TCGA-CL-5917-10A-01D-1657-10 g.chr22:18656570A>G c.1034A>G c.(1033-1035)gAa>gGa p.E345G DLBC 22 18644597 18644597 + Missense_Mutation SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr22:18644597G>A c.295G>A c.(295-297)Gtc>Atc p.V99I ESCA 22 18640567 18640567 + Missense_Mutation SNP G G A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 g.chr22:18640567G>A c.137G>A c.(136-138)aGg>aAg p.R46K ESCA 22 18650040 18650040 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 g.chr22:18650040C>T c.419C>T c.(418-420)gCt>gTt p.A140V HNSC 22 18643000 18643000 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 g.chr22:18643000C>A c.219C>A c.(217-219)ttC>ttA p.F73L HNSC 22 18650683 18650683 + Silent SNP G G A TCGA-CN-6988-01A-11D-1912-08 TCGA-CN-6988-10A-01D-1912-08 g.chr22:18650683G>A c.507G>A c.(505-507)acG>acA p.T169T KIPAN 22 18640560 18640560 + Missense_Mutation SNP C C A TCGA-BP-4354-01A-02D-1366-10 TCGA-BP-4354-11A-01D-1366-10 g.chr22:18640560C>A c.130C>A c.(130-132)Cgt>Agt p.R44S KIPAN 22 18640563 18640563 + Missense_Mutation SNP C C T TCGA-B0-4844-01A-01D-1361-10 TCGA-B0-4844-11A-01D-1361-10 g.chr22:18640563C>T c.133C>T c.(133-135)Ccc>Tcc p.P45S KIPAN 22 18640565 18640565 + Silent SNP C C A TCGA-BP-4170-01A-02D-1366-10 TCGA-BP-4170-11A-01D-1366-10 g.chr22:18640565C>A c.135C>A c.(133-135)ccC>ccA p.P45P KIPAN 22 18640565 18640565 + Silent SNP C C T TCGA-BP-4160-01A-02D-1366-10 TCGA-BP-4160-11A-01D-1806-10 g.chr22:18640565C>T c.135C>T c.(133-135)ccC>ccT p.P45P KIPAN 22 18643020 18643020 + Missense_Mutation SNP C C A TCGA-B0-4852-01A-01D-1501-10 TCGA-B0-4852-11A-01D-1501-10 g.chr22:18643020C>A c.239C>A c.(238-240)aCc>aAc p.T80N KIPAN 22 18655999 18655999 + Missense_Mutation SNP A A G TCGA-B0-4813-01A-01D-1361-10 TCGA-B0-4813-11A-01D-1361-10 g.chr22:18655999A>G c.974A>G c.(973-975)aAt>aGt p.N325S KIRC 22 18640560 18640560 + Missense_Mutation SNP C C A TCGA-BP-4354-01A-02D-1366-10 TCGA-BP-4354-11A-01D-1366-10 g.chr22:18640560C>A c.130C>A c.(130-132)Cgt>Agt p.R44S KIRC 22 18640563 18640563 + Missense_Mutation SNP C C T TCGA-B0-4844-01A-01D-1361-10 TCGA-B0-4844-11A-01D-1361-10 g.chr22:18640563C>T c.133C>T c.(133-135)Ccc>Tcc p.P45S KIRC 22 18640565 18640565 + Silent SNP C C A TCGA-BP-4170-01A-02D-1366-10 TCGA-BP-4170-11A-01D-1366-10 g.chr22:18640565C>A c.135C>A c.(133-135)ccC>ccA p.P45P KIRC 22 18640565 18640565 + Silent SNP C C T TCGA-BP-4160-01A-02D-1366-10 TCGA-BP-4160-11A-01D-1806-10 g.chr22:18640565C>T c.135C>T c.(133-135)ccC>ccT p.P45P KIRC 22 18643020 18643020 + Missense_Mutation SNP C C A TCGA-B0-4852-01A-01D-1501-10 TCGA-B0-4852-11A-01D-1501-10 g.chr22:18643020C>A c.239C>A c.(238-240)aCc>aAc p.T80N KIRC 22 18655999 18655999 + Missense_Mutation SNP A A G TCGA-B0-4813-01A-01D-1361-10 TCGA-B0-4813-11A-01D-1361-10 g.chr22:18655999A>G c.974A>G c.(973-975)aAt>aGt p.N325S LUAD 22 18640461 18640461 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 g.chr22:18640461A>G c.31A>G c.(31-33)Atc>Gtc p.I11V LUAD 22 18642967 18642967 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr22:18642967G>C c.186G>C c.(184-186)caG>caC p.Q62H LUAD 22 18656004 18656004 + Frame_Shift_Del DEL G G - TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr22:18656004delG c.979delG c.(979-981)gtgfs p.V327fs LUSC 22 18650677 18650677 + Silent SNP G G T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 g.chr22:18650677G>T c.501G>T c.(499-501)ctG>ctT p.L167L LUSC 22 18653530 18653530 + Missense_Mutation SNP T T A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 g.chr22:18653530T>A c.734T>A c.(733-735)cTg>cAg p.L245Q LUSC 22 18653534 18653534 + Silent SNP C C T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 g.chr22:18653534C>T c.738C>T c.(736-738)acC>acT p.T246T READ 22 18640570 18640570 + Missense_Mutation SNP C C T TCGA-AG-3894-01A-01W-1073-09 TCGA-AG-3894-10A-01W-1073-09 g.chr22:18640570C>T c.140C>T c.(139-141)gCc>gTc p.A47V READ 22 18656570 18656570 + Missense_Mutation SNP A A G TCGA-CL-5917-01A-11D-1657-10 TCGA-CL-5917-10A-01D-1657-10 g.chr22:18656570A>G c.1034A>G c.(1033-1035)gAa>gGa p.E345G SARC 22 18652696 18652696 + Missense_Mutation SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 g.chr22:18652696G>A c.713G>A c.(712-714)cGt>cAt p.R238H SKCM 22 18642943 18642943 + Silent SNP G G T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 g.chr22:18642943G>T c.162G>T c.(160-162)ctG>ctT p.L54L SKCM 22 18643005 18643005 + Missense_Mutation SNP T T A TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr22:18643005T>A c.224T>A c.(223-225)aTg>aAg p.M75K SKCM 22 18644647 18644647 + Silent SNP G G A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr22:18644647G>A c.345G>A c.(343-345)caG>caA p.Q115Q SKCM 22 18650053 18650053 + Silent SNP C C T TCGA-ER-A197-06A-32D-A197-08 TCGA-ER-A197-10A-01D-A199-08 g.chr22:18650053C>T c.432C>T c.(430-432)taC>taT p.Y144Y SKCM 22 18650086 18650086 + Silent SNP C C T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr22:18650086C>T c.465C>T c.(463-465)atC>atT p.I155I

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 22 18640577 18640577 single base substitution C G missense_variant D49E 147C>G BLCA-CN 22 18644597 18644597 single base substitution G A missense_variant V99I 295G>A BRCA-EU 22 18628118 18628118 single base substitution C G upstream_gene_variant BRCA-EU 22 18628794 18628794 single base substitution C A upstream_gene_variant BRCA-EU 22 18629028 18629028 deletion of <=200bp C - upstream_gene_variant BRCA-EU 22 18630408 18630408 single base substitution C T upstream_gene_variant BRCA-EU 22 18631277 18631277 single base substitution G T upstream_gene_variant BRCA-EU 22 18637509 18637509 single base substitution C T intron_variant BRCA-EU 22 18638123 18638123 single base substitution C T intron_variant BRCA-EU 22 18639417 18639417 single base substitution C T intron_variant BRCA-EU 22 18639535 18639535 single base substitution T C intron_variant BRCA-EU 22 18639700 18639700 single base substitution C T intron_variant BRCA-EU 22 18641131 18641131 single base substitution C T intron_variant BRCA-EU 22 18641984 18641984 single base substitution G A intron_variant BRCA-EU 22 18644754 18644754 single base substitution A G intron_variant BRCA-EU 22 18649445 18649445 single base substitution G A intron_variant BRCA-EU 22 18651412 18651412 single base substitution C T intron_variant BRCA-EU 22 18651465 18651465 single base substitution C G intron_variant BRCA-EU 22 18652002 18652002 single base substitution T C intron_variant BRCA-EU 22 18654439 18654439 single base substitution A G intron_variant BRCA-EU 22 18654976 18654976 single base substitution C G intron_variant BRCA-EU 22 18655130 18655130 single base substitution C T intron_variant BRCA-EU 22 18657582 18657582 single base substitution C T intron_variant BRCA-EU 22 18657671 18657671 deletion of <=200bp T - intron_variant BRCA-EU 22 18657747 18657747 single base substitution C G intron_variant BRCA-EU 22 18658778 18658778 single base substitution G C intron_variant BRCA-EU 22 18659010 18659010 single base substitution C T intron_variant BRCA-EU 22 18659427 18659427 single base substitution A T intron_variant BRCA-EU 22 18661918 18661918 single base substitution C T downstream_gene_variant BRCA-FR 22 18637509 18637509 single base substitution C T intron_variant BRCA-FR 22 18644754 18644754 single base substitution A G intron_variant BRCA-FR 22 18651412 18651412 single base substitution C T intron_variant BRCA-FR 22 18654976 18654976 single base substitution C G intron_variant BRCA-FR 22 18657747 18657747 single base substitution C G intron_variant BRCA-FR 22 18658001 18658001 single base substitution G A intron_variant BRCA-FR 22 18658778 18658778 single base substitution G C intron_variant CESC-US 22 18640517 18640517 single base substitution G C missense_variant K29N 87G>C CLLE-ES 22 18654199 18654199 single base substitution C T intron_variant CLLE-ES 22 18654985 18654985 single base substitution T G intron_variant CLLE-ES 22 18656702 18656702 single base substitution A G intron_variant COAD-US 22 18640560 18640560 single base substitution C T missense_variant R44C 130C>T COAD-US 22 18650096 18650096 single base substitution C A missense_variant H159N 475C>A COCA-CN 22 18628243 18628243 single base substitution G A upstream_gene_variant COCA-CN 22 18642801 18642801 single base substitution G A intron_variant COCA-CN 22 18649953 18649953 single base substitution T G intron_variant COCA-CN 22 18650505 18650505 single base substitution T A intron_variant COCA-CN 22 18655871 18655871 single base substitution G A intron_variant COCA-CN 22 18656127 18656127 single base substitution T C intron_variant COCA-CN 22 18662856 18662856 single base substitution T C downstream_gene_variant COCA-CN 22 18663280 18663280 single base substitution C T downstream_gene_variant COCA-CN 22 18663597 18663597 single base substitution T C downstream_gene_variant EOPC-DE 22 18655758 18655758 single base substitution G A intron_variant ESAD-UK 22 18627801 18627801 single base substitution C G upstream_gene_variant ESAD-UK 22 18627884 18627884 single base substitution C A upstream_gene_variant ESAD-UK 22 18628193 18628193 deletion of <=200bp A - upstream_gene_variant ESAD-UK 22 18630887 18630887 single base substitution C T upstream_gene_variant ESAD-UK 22 18631643 18631643 single base substitution G A upstream_gene_variant ESAD-UK 22 18632825 18632825 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 22 18634495 18634495 single base substitution C T intron_variant ESAD-UK 22 18638249 18638249 single base substitution C T intron_variant ESAD-UK 22 18638343 18638343 single base substitution C T intron_variant ESAD-UK 22 18642160 18642160 single base substitution C T intron_variant ESAD-UK 22 18651870 18651870 single base substitution T G intron_variant KIRC-US 22 18640560 18640560 single base substitution C A missense_variant R44S 130C>A KIRC-US 22 18640563 18640563 single base substitution C T missense_variant P45S 133C>T KIRC-US 22 18640565 18640565 single base substitution C A synonymous_variant P45P 135C>A KIRC-US 22 18640565 18640565 single base substitution C T synonymous_variant P45P 135C>T KIRC-US 22 18643020 18643020 single base substitution C A missense_variant T80N 239C>A KIRC-US 22 18655999 18655999 single base substitution A G missense_variant N325S 974A>G LAML-KR 22 18652761 18652761 single base substitution T C intron_variant LAML-KR 22 18656393 18656393 single base substitution A G intron_variant LAML-KR 22 18658394 18658394 single base substitution T C intron_variant LAML-KR 22 18658750 18658750 single base substitution G A intron_variant LAML-KR 22 18659436 18659436 single base substitution G A intron_variant LAML-KR 22 18659463 18659463 single base substitution G C intron_variant LAML-KR 22 18659498 18659498 single base substitution G C intron_variant LAML-KR 22 18661559 18661559 single base substitution C T downstream_gene_variant LAML-KR 22 18662799 18662799 single base substitution G T downstream_gene_variant LAML-KR 22 18663524 18663524 single base substitution C T downstream_gene_variant LAML-KR 22 18663640 18663640 single base substitution C T downstream_gene_variant LICA-CN 22 18650668 18650668 single base substitution G T synonymous_variant L164L 492G>T LICA-FR 22 18637608 18637608 single base substitution A G intron_variant LICA-FR 22 18638656 18638656 single base substitution T C intron_variant LICA-FR 22 18638657 18638657 single base substitution G A intron_variant LICA-FR 22 18645055 18645055 insertion of <=200bp - T intron_variant LICA-FR 22 18651163 18651163 insertion of <=200bp - C intron_variant LICA-FR 22 18658585 18658585 single base substitution A T intron_variant LICA-FR 22 18660648 18660648 single base substitution A T downstream_gene_variant LICA-FR 22 18661376 18661376 single base substitution G A downstream_gene_variant LICA-FR 22 18661868 18661868 single base substitution C T downstream_gene_variant LICA-FR 22 18662856 18662856 single base substitution T C downstream_gene_variant LINC-JP 22 18628062 18628062 single base substitution A G upstream_gene_variant LINC-JP 22 18628227 18628227 single base substitution T G upstream_gene_variant LINC-JP 22 18632895 18632895 single base substitution G C 5_prime_UTR_variant LINC-JP 22 18639227 18639227 single base substitution C A intron_variant LINC-JP 22 18651230 18651230 single base substitution C G intron_variant LIRI-JP 22 18631487 18631487 single base substitution T C upstream_gene_variant LIRI-JP 22 18632015 18632015 single base substitution T A upstream_gene_variant LIRI-JP 22 18633961 18633961 single base substitution T C intron_variant LIRI-JP 22 18635197 18635197 single base substitution T G intron_variant LIRI-JP 22 18636247 18636247 single base substitution C A intron_variant LIRI-JP 22 18636295 18636295 single base substitution G T intron_variant LIRI-JP 22 18636305 18636305 single base substitution C T intron_variant LIRI-JP 22 18652104 18652104 single base substitution G A intron_variant LIRI-JP 22 18655758 18655758 single base substitution G A intron_variant LIRI-JP 22 18661980 18661980 single base substitution A C downstream_gene_variant LUSC-KR 22 18627746 18627746 single base substitution A G upstream_gene_variant LUSC-KR 22 18629651 18629651 single base substitution G A upstream_gene_variant LUSC-KR 22 18629782 18629782 single base substitution G C upstream_gene_variant LUSC-KR 22 18629807 18629807 single base substitution G T upstream_gene_variant LUSC-KR 22 18632943 18632943 single base substitution G A 5_prime_UTR_variant LUSC-KR 22 18636248 18636248 single base substitution G C intron_variant LUSC-KR 22 18637850 18637850 single base substitution C T intron_variant LUSC-KR 22 18651974 18651974 single base substitution G A intron_variant LUSC-KR 22 18655841 18655841 single base substitution T G intron_variant LUSC-KR 22 18655846 18655846 single base substitution G A intron_variant LUSC-KR 22 18655999 18655999 single base substitution A G missense_variant N325S 974A>G LUSC-KR 22 18658213 18658213 single base substitution A G intron_variant LUSC-KR 22 18658279 18658279 single base substitution C T intron_variant LUSC-KR 22 18658496 18658496 single base substitution A C intron_variant LUSC-KR 22 18659352 18659352 single base substitution T G intron_variant LUSC-KR 22 18659362 18659362 single base substitution A C intron_variant LUSC-KR 22 18659709 18659709 single base substitution G A 3_prime_UTR_variant LUSC-KR 22 18659803 18659803 single base substitution G A 3_prime_UTR_variant LUSC-KR 22 18659934 18659934 single base substitution G T 3_prime_UTR_variant LUSC-KR 22 18660716 18660716 single base substitution A T downstream_gene_variant LUSC-KR 22 18660766 18660766 single base substitution G C downstream_gene_variant LUSC-KR 22 18660953 18660953 single base substitution G A downstream_gene_variant LUSC-KR 22 18661356 18661356 single base substitution G A downstream_gene_variant LUSC-KR 22 18661920 18661920 single base substitution G A downstream_gene_variant LUSC-KR 22 18662799 18662799 single base substitution G T downstream_gene_variant LUSC-KR 22 18662958 18662958 single base substitution T C downstream_gene_variant LUSC-KR 22 18663231 18663231 single base substitution C T downstream_gene_variant LUSC-KR 22 18663524 18663524 single base substitution C T downstream_gene_variant LUSC-KR 22 18663640 18663640 single base substitution C T downstream_gene_variant LUSC-US 22 18650677 18650677 single base substitution G T synonymous_variant L167L 501G>T LUSC-US 22 18653530 18653530 single base substitution T A missense_variant L245Q 734T>A LUSC-US 22 18653534 18653534 single base substitution C T synonymous_variant T246T 738C>T MALY-DE 22 18633551 18633551 single base substitution C T intron_variant MALY-DE 22 18635746 18635746 single base substitution C T intron_variant MALY-DE 22 18639660 18639660 single base substitution C T intron_variant MELA-AU 22 18627701 18627701 single base substitution G A upstream_gene_variant MELA-AU 22 18627789 18627789 single base substitution C T upstream_gene_variant MELA-AU 22 18628316 18628316 single base substitution C T upstream_gene_variant MELA-AU 22 18628346 18628346 single base substitution C T upstream_gene_variant MELA-AU 22 18628357 18628357 single base substitution T C upstream_gene_variant MELA-AU 22 18628514 18628514 single base substitution C T upstream_gene_variant MELA-AU 22 18629038 18629038 single base substitution G A upstream_gene_variant MELA-AU 22 18629178 18629178 single base substitution C T upstream_gene_variant MELA-AU 22 18629495 18629495 single base substitution G A upstream_gene_variant MELA-AU 22 18629572 18629572 single base substitution C T upstream_gene_variant MELA-AU 22 18629706 18629706 single base substitution C T upstream_gene_variant MELA-AU 22 18630078 18630078 single base substitution G A upstream_gene_variant MELA-AU 22 18630242 18630242 single base substitution C T upstream_gene_variant MELA-AU 22 18630530 18630530 single base substitution T C upstream_gene_variant MELA-AU 22 18630543 18630544 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 22 18630559 18630559 single base substitution C T upstream_gene_variant MELA-AU 22 18630743 18630743 single base substitution G A upstream_gene_variant MELA-AU 22 18632720 18632720 single base substitution G A 5_prime_UTR_variant MELA-AU 22 18634476 18634476 single base substitution C T intron_variant MELA-AU 22 18634815 18634815 single base substitution C T intron_variant MELA-AU 22 18634846 18634846 single base substitution G A intron_variant MELA-AU 22 18634881 18634881 single base substitution C T intron_variant MELA-AU 22 18635023 18635023 single base substitution C T intron_variant MELA-AU 22 18635157 18635157 single base substitution C T intron_variant MELA-AU 22 18635323 18635323 single base substitution G A intron_variant MELA-AU 22 18635779 18635779 single base substitution C T intron_variant MELA-AU 22 18636376 18636376 single base substitution G T intron_variant MELA-AU 22 18636530 18636530 single base substitution C T intron_variant MELA-AU 22 18636972 18636972 single base substitution C T intron_variant MELA-AU 22 18637329 18637329 single base substitution T C intron_variant MELA-AU 22 18638366 18638366 single base substitution C T intron_variant MELA-AU 22 18638733 18638733 single base substitution C T intron_variant MELA-AU 22 18639425 18639425 single base substitution T A intron_variant MELA-AU 22 18639647 18639647 single base substitution C T intron_variant MELA-AU 22 18641612 18641612 single base substitution C T intron_variant MELA-AU 22 18641817 18641817 single base substitution C T intron_variant MELA-AU 22 18642197 18642197 single base substitution C T intron_variant MELA-AU 22 18642293 18642293 single base substitution C T intron_variant MELA-AU 22 18642425 18642425 single base substitution T C intron_variant MELA-AU 22 18642426 18642426 single base substitution G A intron_variant MELA-AU 22 18642552 18642552 single base substitution C T intron_variant MELA-AU 22 18642838 18642838 single base substitution C T intron_variant MELA-AU 22 18642926 18642926 single base substitution C T intron_variant MELA-AU 22 18643082 18643082 single base substitution C T intron_variant MELA-AU 22 18643083 18643083 single base substitution C T intron_variant MELA-AU 22 18643190 18643190 single base substitution A G intron_variant MELA-AU 22 18643192 18643193 multiple base substitution (>=2bp and <=200bp) TC GA intron_variant MELA-AU 22 18643255 18643255 single base substitution G A intron_variant MELA-AU 22 18645622 18645622 single base substitution C T intron_variant MELA-AU 22 18646050 18646050 single base substitution G A intron_variant MELA-AU 22 18646082 18646082 single base substitution A G intron_variant MELA-AU 22 18646083 18646083 single base substitution T A intron_variant MELA-AU 22 18646182 18646182 single base substitution G A intron_variant MELA-AU 22 18646538 18646539 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 18647111 18647111 single base substitution G C intron_variant MELA-AU 22 18647411 18647411 single base substitution C T intron_variant MELA-AU 22 18649461 18649461 single base substitution C T intron_variant MELA-AU 22 18650171 18650171 single base substitution C T intron_variant MELA-AU 22 18650212 18650212 single base substitution C T intron_variant MELA-AU 22 18650213 18650213 single base substitution C T intron_variant MELA-AU 22 18651059 18651059 single base substitution C T intron_variant MELA-AU 22 18651165 18651166 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 18651415 18651415 single base substitution C A intron_variant MELA-AU 22 18651996 18651996 single base substitution C T intron_variant MELA-AU 22 18652023 18652023 single base substitution C T intron_variant MELA-AU 22 18652297 18652297 single base substitution C T intron_variant MELA-AU 22 18653040 18653040 single base substitution C T intron_variant MELA-AU 22 18653229 18653230 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 18653270 18653270 single base substitution T C intron_variant MELA-AU 22 18653490 18653490 single base substitution T G intron_variant MELA-AU 22 18654381 18654381 single base substitution G A intron_variant MELA-AU 22 18654449 18654449 single base substitution C T intron_variant MELA-AU 22 18654580 18654580 single base substitution G A intron_variant MELA-AU 22 18654661 18654661 single base substitution C T intron_variant MELA-AU 22 18655026 18655026 single base substitution C T intron_variant MELA-AU 22 18655125 18655125 single base substitution C T intron_variant MELA-AU 22 18655143 18655143 single base substitution C T intron_variant MELA-AU 22 18655282 18655282 single base substitution G A intron_variant MELA-AU 22 18655533 18655533 single base substitution C T intron_variant MELA-AU 22 18655787 18655787 single base substitution G A intron_variant MELA-AU 22 18655870 18655870 single base substitution C T intron_variant MELA-AU 22 18656080 18656080 single base substitution C T intron_variant MELA-AU 22 18656872 18656872 single base substitution C T intron_variant MELA-AU 22 18656925 18656925 single base substitution C T intron_variant MELA-AU 22 18657024 18657024 single base substitution C T intron_variant MELA-AU 22 18657149 18657149 single base substitution C T intron_variant MELA-AU 22 18657185 18657185 single base substitution G C intron_variant MELA-AU 22 18657560 18657560 single base substitution C T intron_variant MELA-AU 22 18658221 18658221 single base substitution C T intron_variant MELA-AU 22 18658593 18658593 single base substitution T C intron_variant MELA-AU 22 18661622 18661622 single base substitution G A downstream_gene_variant MELA-AU 22 18662010 18662010 single base substitution G A downstream_gene_variant MELA-AU 22 18662012 18662012 single base substitution T G downstream_gene_variant MELA-AU 22 18662899 18662899 single base substitution G A downstream_gene_variant ORCA-IN 22 18634578 18634578 single base substitution A C intron_variant ORCA-IN 22 18637668 18637668 single base substitution C T intron_variant ORCA-IN 22 18638193 18638193 single base substitution G C intron_variant OV-AU 22 18628343 18628343 single base substitution C A upstream_gene_variant OV-AU 22 18632876 18632876 single base substitution C A 5_prime_UTR_variant OV-AU 22 18633536 18633536 single base substitution A T intron_variant OV-AU 22 18634762 18634762 single base substitution A G intron_variant OV-AU 22 18645145 18645145 single base substitution T C intron_variant OV-AU 22 18653489 18653489 single base substitution C T intron_variant OV-AU 22 18661919 18661919 single base substitution T G downstream_gene_variant OV-AU 22 18662916 18662916 single base substitution C A downstream_gene_variant PACA-AU 22 18632066 18632066 single base substitution G A upstream_gene_variant PACA-AU 22 18632666 18632666 single base substitution G C 5_prime_UTR_variant PACA-AU 22 18634652 18634652 single base substitution T G intron_variant PACA-AU 22 18639243 18639243 single base substitution G A intron_variant PACA-AU 22 18643346 18643346 single base substitution G A intron_variant PACA-AU 22 18648816 18648816 single base substitution T G intron_variant PACA-CA 22 18634799 18634799 single base substitution C T intron_variant PACA-CA 22 18636319 18636319 single base substitution G T intron_variant PACA-CA 22 18655253 18655253 single base substitution A C intron_variant PACA-CA 22 18657288 18657288 single base substitution C T intron_variant PACA-CA 22 18657764 18657764 single base substitution T A intron_variant PACA-CA 22 18662050 18662050 single base substitution T C downstream_gene_variant PACA-CA 22 18662211 18662211 single base substitution T G downstream_gene_variant PBCA-DE 22 18629447 18629447 single base substitution G A upstream_gene_variant PBCA-DE 22 18630547 18630547 single base substitution C T upstream_gene_variant PBCA-DE 22 18635467 18635467 single base substitution C A intron_variant PBCA-DE 22 18654420 18654420 insertion of <=200bp - A intron_variant PRAD-CA 22 18642594 18642594 single base substitution C A intron_variant PRAD-UK 22 18640035 18640035 insertion of <=200bp - G intron_variant PRAD-UK 22 18658816 18658816 single base substitution G A intron_variant RECA-EU 22 18635665 18635665 single base substitution G T intron_variant RECA-EU 22 18642642 18642642 single base substitution C T intron_variant RECA-EU 22 18646520 18646520 single base substitution C G intron_variant RECA-EU 22 18661959 18661959 single base substitution C G downstream_gene_variant SKCA-BR 22 18627911 18627911 single base substitution G A upstream_gene_variant SKCA-BR 22 18630228 18630229 deletion of <=200bp TG - upstream_gene_variant SKCA-BR 22 18631321 18631321 single base substitution G A upstream_gene_variant SKCA-BR 22 18635534 18635534 single base substitution C T intron_variant SKCA-BR 22 18638309 18638309 single base substitution A G intron_variant SKCA-BR 22 18642012 18642012 single base substitution G A intron_variant SKCA-BR 22 18644919 18644919 single base substitution C G intron_variant SKCA-BR 22 18645166 18645166 single base substitution C T intron_variant SKCA-BR 22 18645355 18645355 single base substitution C T intron_variant SKCA-BR 22 18649883 18649883 single base substitution C T intron_variant SKCA-BR 22 18649931 18649931 single base substitution G A intron_variant SKCA-BR 22 18650618 18650618 single base substitution T G intron_variant SKCA-BR 22 18651461 18651461 single base substitution C T intron_variant SKCA-BR 22 18652108 18652108 single base substitution G A intron_variant SKCA-BR 22 18652993 18652993 single base substitution C T intron_variant SKCA-BR 22 18654985 18654985 single base substitution T G intron_variant SKCA-BR 22 18655846 18655846 single base substitution G A intron_variant SKCA-BR 22 18655999 18655999 single base substitution A G missense_variant N325S 974A>G SKCA-BR 22 18656721 18656721 single base substitution C T intron_variant SKCA-BR 22 18658623 18658623 single base substitution A G intron_variant SKCA-BR 22 18658750 18658750 single base substitution G A intron_variant SKCA-BR 22 18659337 18659337 single base substitution G A intron_variant SKCA-BR 22 18659463 18659463 single base substitution G C intron_variant SKCA-BR 22 18660450 18660450 single base substitution A G downstream_gene_variant SKCA-BR 22 18660660 18660660 single base substitution G A downstream_gene_variant SKCA-BR 22 18661069 18661069 single base substitution C G downstream_gene_variant SKCA-BR 22 18661236 18661236 single base substitution T G downstream_gene_variant SKCA-BR 22 18661245 18661245 single base substitution T A downstream_gene_variant SKCA-BR 22 18661249 18661249 single base substitution C T downstream_gene_variant SKCA-BR 22 18662044 18662044 single base substitution G A downstream_gene_variant SKCA-BR 22 18663189 18663189 single base substitution C T downstream_gene_variant SKCA-BR 22 18663524 18663524 single base substitution C T downstream_gene_variant SKCM-US 22 18643005 18643005 single base substitution T A missense_variant M75K 224T>A SKCM-US 22 18644647 18644647 single base substitution G A synonymous_variant Q115Q 345G>A SKCM-US 22 18650053 18650053 single base substitution C T synonymous_variant Y144Y 432C>T SKCM-US 22 18650086 18650086 single base substitution C T synonymous_variant I155I 465C>T STAD-US 22 18643009 18643009 single base substitution T C synonymous_variant N76N 228T>C STAD-US 22 18644674 18644674 single base substitution C A synonymous_variant A124A 372C>A THCA-SA 22 18650682 18650682 single base substitution C T missense_variant T169M 506C>T THCA-SA 22 18655932 18655932 single base substitution G A missense_variant E303K 907G>A UCEC-US 22 18640527 18640527 single base substitution G T missense_variant D33Y 97G>T UCEC-US 22 18640540 18640541 deletion of <=200bp AG - frameshift_variant K37 UCEC-US 22 18644563 18644563 single base substitution G A synonymous_variant T87T 261G>A UCEC-US 22 18644666 18644666 single base substitution G T stop_gained E122* 364G>T UCEC-US 22 18652617 18652617 single base substitution G A missense_variant A212T 634G>A UCEC-US 22 18652700 18652700 single base substitution G A synonymous_variant G239G 717G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ccRCC-3 COSM1666001 c.401-1G>C p.? Unknown 22:18167254-18167254 + GC8_T COSM149251 c.506C>T p.T169M Substitution - Missense 22:18167915-18167915 + H1155 COSM1195409 c.86A>G p.K29R Substitution - Missense 22:18157749-18157749 + CSCC-30-T COSM4524221 c.125G>A p.R42K Substitution - Missense 22:18157788-18157788 + 8804_PT COSM5755704 c.592C>T p.L198F Substitution - Missense 22:18168001-18168001 + TCGA-BR-4361-01 COSM4102508 c.228T>C p.N76N Substitution - coding silent 22:18160242-18160242 + PDA_016 COSM149251 c.506C>T p.T169M Substitution - Missense 22:18167915-18167915 + 37 COSM3724105 c.974A>G p.N325S Substitution - Missense 22:18173232-18173232 + UM-SCC-11B COSM4004836 c.295G>A p.V99I Substitution - Missense 22:18161830-18161830 + TCGA-BP-4160-01 COSM3363547 c.135C>T p.P45P Substitution - coding silent 22:18157798-18157798 + TCGA-AG-3894-01 COSM288858 c.140C>T p.A47V Substitution - Missense 22:18157803-18157803 + TCGA-AX-A05Z-01 COSM1031951 c.97G>T p.D33Y Substitution - Missense 22:18157760-18157760 + B74 COSM1751712 c.147C>G p.D49E Substitution - Missense 22:18157810-18157810 + TCGA-EJ-7123-01 COSM3673216 c.152C>A p.P51H Substitution - Missense 22:18157815-18157815 + PT25 COSM149251 c.506C>T p.T169M Substitution - Missense 22:18167915-18167915 + TCGA-AX-A0J1-01 COSM1031955 c.634G>A p.A212T Substitution - Missense 22:18169850-18169850 + TCGA-G4-6588-01 COSM1414830 c.130C>T p.R44C Substitution - Missense 22:18157793-18157793 + ATL020 COSM5707588 c.518A>G p.K173R Substitution - Missense 22:18167927-18167927 + TCGA-B0-4813-01 COSM3724105 c.974A>G p.N325S Substitution - Missense 22:18173232-18173232 + TCGA-EE-A2MT-06 COSM3552083 c.345G>A p.Q115Q Substitution - coding silent 22:18161880-18161880 + PT52 COSM5941113 c.627+8G>A p.? Unknown 22:18168044-18168044 + B9-Tumor COSM4004836 c.295G>A p.V99I Substitution - Missense 22:18161830-18161830 + ML_28_T_01 COSM3724105 c.974A>G p.N325S Substitution - Missense 22:18173232-18173232 + SC_9082 COSM5563020 c.267C>T p.P89P Substitution - coding silent 22:18161802-18161802 + TCGA-CM-4744-01 COSM1414831 c.475C>A p.H159N Substitution - Missense 22:18167329-18167329 + pfg181T COSM4750678 c.680A>T p.K227M Substitution - Missense 22:18169896-18169896 + TCGA-ER-A197-06 COSM3552084 c.432C>T p.Y144Y Substitution - coding silent 22:18167286-18167286 + U87 COSM2891849 c.914T>C p.F305S Substitution - Missense 22:18173172-18173172 + TCGA-22-1012-01 COSM725629 c.734T>A p.L245Q Substitution - Missense 22:18170763-18170763 + CSCC-44-T COSM4490198 c.359C>T p.P120L Substitution - Missense 22:18161894-18161894 + TCGA-DA-A3F8-06 COSM1714136 c.224T>A p.M75K Substitution - Missense 22:18160238-18160238 + PTC_362 COSM5958454 c.907G>A p.E303K Substitution - Missense 22:18173165-18173165 + 262LT COSM149251 c.506C>T p.T169M Substitution - Missense 22:18167915-18167915 + TCGA-BP-4170-01 COSM3363546 c.135C>A p.P45P Substitution - coding silent 22:18157798-18157798 + TCGA-B5-A11E-01 COSM1031953 c.261G>A p.T87T Substitution - coding silent 22:18161796-18161796 + 9642_PT COSM5755704 c.592C>T p.L198F Substitution - Missense 22:18168001-18168001 + S02234 COSM5676188 c.621G>A p.K207K Substitution - coding silent 22:18168030-18168030 + PT25 COSM5905146 c.535G>C p.V179L Substitution - Missense 22:18167944-18167944 + 8804_PT COSM5755703 c.584C>G p.P195R Substitution - Missense 22:18167993-18167993 + 105353 COSM95436 c.133C>T p.P45S Substitution - Missense 22:18157796-18157796 + 1428_T COSM3964086 c.732G>T p.K244N Substitution - Missense 22:18170761-18170761 + TCGA-22-1012-01 COSM725628 c.738C>T p.T246T Substitution - coding silent 22:18170767-18170767 + TCGA-BP-4354-01 COSM3363545 c.130C>A p.R44S Substitution - Missense 22:18157793-18157793 + TCGA-CG-5721-01 COSM4102509 c.372C>A p.A124A Substitution - coding silent 22:18161907-18161907 + TCGA-B0-4844-01 COSM95436 c.133C>T p.P45S Substitution - Missense 22:18157796-18157796 + S00944 COSM5664178 c.675A>T p.K225N Substitution - Missense 22:18169891-18169891 + ESCC_55 COSM5631917 c.528G>C p.L176F Substitution - Missense 22:18167937-18167937 + 587342 COSM1231967 c.161T>C p.L54P Substitution - Missense 22:18160175-18160175 + TCGA-C5-A1BQ-01 COSM4842744 c.87G>C p.K29N Substitution - Missense 22:18157750-18157750 + YUGAFFE COSM1714136 c.224T>A p.M75K Substitution - Missense 22:18160238-18160238 + TCGA-24-2289-01 COSM117456 c.110A>G p.K37R Substitution - Missense 22:18157773-18157773 + HCC074T COSM5810171 c.492G>T p.L164L Substitution - coding silent 22:18167901-18167901 + TCGA-D1-A17U-01 COSM1031956 c.717G>A p.G239G Substitution - coding silent 22:18169933-18169933 + TCGA-22-5492-01 COSM725630 c.501G>T p.L167L Substitution - coding silent 22:18167910-18167910 + TCGA-B5-A11N-01 COSM1031954 c.364G>T p.E122* Substitution - Nonsense 22:18161899-18161899 + TCGA-B0-4852-01 COSM478722 c.239C>A p.T80N Substitution - Missense 22:18160253-18160253 + CSCC-31-T COSM4447432 c.401-3C>T p.? Unknown 22:18167252-18167252 + 9642_PT COSM5755703 c.584C>G p.P195R Substitution - Missense 22:18167993-18167993 + ESCC-D2 COSM5045823 c.188C>T p.T63I Substitution - Missense 22:18160202-18160202 + TCGA-EE-A3JA-06 COSM3552085 c.465C>T p.I155I Substitution - coding silent 22:18167319-18167319 + T3147 COSM4739664 c.232G>A p.D78N Substitution - Missense 22:18160246-18160246 + B74-Tumor COSM1751712 c.147C>G p.D49E Substitution - Missense 22:18157810-18157810 + TCGA-BG-A0LX-01 COSM1031952 c.110_111delAG p.E39fs*28 Deletion - Frameshift 22:18157773-18157774 + Detroit_562 COSM3724105 c.974A>G p.N325S Substitution - Missense 22:18173232-18173232 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.38132;Hs.38218;Hs.38260 22q11.21 607057 2399334|CGAP|BC014896|C/T|non-coding||1630|Candidate; 1519269|dbSNP|BC014896|C/T|non-coding||1673|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - AAAAAACGG IntronicInsertion . c.1-4222_1-4221insAAAAAACGG 22 18636209 CLL AG - Frameshift p.E39Afs*28 c.116_117delAG 22 18640540 UCEC A G Missense p.K37R c.110A>G 22 18640540 OV C A Missense p.F73L c.219C>A 22 18643000 HNSC C A Missense p.R44S c.130C>A 22 18640560 RCCC C A Missense p.T80N c.239C>A 22 18643020 RCCC C A Synonymous p.P45P c.135C>A 22 18640565 RCCC C T Missense p.A47V c.140C>T 22 18640570 COREAD C T Missense p.P120L c.359C>T 22 18644661 CM C T Missense p.P45S c.133C>T 22 18640563 RCCC C T Synonymous p.I155I c.465C>T 22 18650086 CM C T Synonymous p.P45P c.135C>T 22 18640565 RCCC C T Synonymous p.T246T c.738C>T 22 18653534 LUSC C T Synonymous p.Y144Y c.432C>T 22 18650053 CM G A 5-UTRSNV . c.1-41G>A 22 18640390 CM G A Missense p.V132M c.394G>A 22 18644696 STAD G A Synonymous p.G239G c.717G>A 22 18652700 UCEC G A Synonymous p.Q115Q c.345G>A 22 18644647 CM G A Synonymous p.T169T c.507G>A 22 18650683 HNSC G C Missense p.Q62H c.186G>C 22 18642967 LUAD G T Synonymous p.L167L c.501G>T 22 18650677 LUSC T A Missense p.L245Q c.734T>A 22 18653530 LUSC T A Missense p.M75K c.224T>A 22 18643005 CM