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 9 125673275 125673275 + Silent SNP G G A TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr9:125673275G>A c.1077C>T c.(1075-1077)tgC>tgT p.C359C BLCA 9 125673161 125673161 + Silent SNP G G A TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr9:125673161G>A c.1191C>T c.(1189-1191)ctC>ctT p.L397L BLCA 9 125673538 125673538 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 g.chr9:125673538C>G c.814G>C c.(814-816)Gat>Cat p.D272H BLCA 9 125673781 125673781 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 g.chr9:125673781C>G c.571G>C c.(571-573)Gag>Cag p.E191Q BLCA 9 125674274 125674274 + Silent SNP C C T TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr9:125674274C>T c.78G>A c.(76-78)ttG>ttA p.L26L BRCA 9 125673289 125673289 + Nonsense_Mutation SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 g.chr9:125673289G>A c.1063C>T c.(1063-1065)Cag>Tag p.Q355* BRCA 9 125673378 125673378 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr9:125673378A>G c.974T>C c.(973-975)cTa>cCa p.L325P BRCA 9 125673814 125673814 + Nonsense_Mutation SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr9:125673814C>A c.538G>T c.(538-540)Gaa>Taa p.E180* BRCA 9 125673973 125673973 + Missense_Mutation SNP G G C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 g.chr9:125673973G>C c.379C>G c.(379-381)Ctg>Gtg p.L127V BRCA 9 125674188 125674188 + Missense_Mutation SNP G G C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 g.chr9:125674188G>C c.164C>G c.(163-165)tCc>tGc p.S55C BRCA 9 125674315 125674315 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr9:125674315C>G c.37G>C c.(37-39)Gaa>Caa p.E13Q CESC 9 125673272 125673272 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr9:125673272C>T c.1080G>A c.(1078-1080)ttG>ttA p.L360L CESC 9 125673338 125673338 + Missense_Mutation SNP C C A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 g.chr9:125673338C>A c.1014G>T c.(1012-1014)aaG>aaT p.K338N CESC 9 125673645 125673645 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 g.chr9:125673645G>A c.707C>T c.(706-708)tCa>tTa p.S236L CESC 9 125673859 125673859 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr9:125673859C>T c.493G>A c.(493-495)Gaa>Aaa p.E165K COAD 9 125673358 125673358 + Missense_Mutation SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr9:125673358C>T c.994G>A c.(994-996)Gga>Aga p.G332R COAD 9 125673667 125673667 + Missense_Mutation SNP C C A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr9:125673667C>A c.685G>T c.(685-687)Ggt>Tgt p.G229C COAD 9 125673991 125673991 + Nonsense_Mutation SNP C C A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr9:125673991C>A c.361G>T c.(361-363)Gaa>Taa p.E121* COAD 9 125674261 125674261 + Missense_Mutation SNP A A C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr9:125674261A>C c.91T>G c.(91-93)Tta>Gta p.L31V COAD 9 125674279 125674279 + Missense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr9:125674279G>T c.73C>A c.(73-75)Ctt>Att p.L25I COADREAD 9 125673358 125673358 + Missense_Mutation SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr9:125673358C>T c.994G>A c.(994-996)Gga>Aga p.G332R COADREAD 9 125673667 125673667 + Missense_Mutation SNP C C A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr9:125673667C>A c.685G>T c.(685-687)Ggt>Tgt p.G229C COADREAD 9 125673991 125673991 + Nonsense_Mutation SNP C C A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr9:125673991C>A c.361G>T c.(361-363)Gaa>Taa p.E121* COADREAD 9 125674110 125674110 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr9:125674110C>T c.242G>A c.(241-243)gGc>gAc p.G81D COADREAD 9 125674261 125674261 + Missense_Mutation SNP A A C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr9:125674261A>C c.91T>G c.(91-93)Tta>Gta p.L31V COADREAD 9 125674279 125674279 + Missense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr9:125674279G>T c.73C>A c.(73-75)Ctt>Att p.L25I ESCA 9 125674188 125674188 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 g.chr9:125674188G>T c.164C>A c.(163-165)tCc>tAc p.S55Y GBMLGG 9 125674072 125674072 + Nonsense_Mutation SNP C C A TCGA-S9-A6WG-01A-11D-A33T-08 TCGA-S9-A6WG-10A-01D-A33W-08 g.chr9:125674072C>A c.280G>T c.(280-282)Gaa>Taa p.E94* HNSC 9 125673155 125673155 + Missense_Mutation SNP C C G TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 g.chr9:125673155C>G c.1197G>C c.(1195-1197)aaG>aaC p.K399N HNSC 9 125673354 125673354 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr9:125673354T>C c.998A>G c.(997-999)aAa>aGa p.K333R HNSC 9 125673418 125673418 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 g.chr9:125673418G>A c.934C>T c.(934-936)Cat>Tat p.H312Y HNSC 9 125673511 125673511 + Missense_Mutation SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 g.chr9:125673511C>T c.841G>A c.(841-843)Gaa>Aaa p.E281K HNSC 9 125673995 125673995 + Silent SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 g.chr9:125673995G>A c.357C>T c.(355-357)tgC>tgT p.C119C KIPAN 9 125673886 125673886 + Missense_Mutation SNP T T C TCGA-B1-A47M-01A-11D-A25F-10 TCGA-B1-A47M-10A-01D-A25F-10 g.chr9:125673886T>C c.466A>G c.(466-468)Aat>Gat p.N156D KIPAN 9 125674096 125674096 + Missense_Mutation SNP G G T TCGA-B0-5706-01A-11D-1534-10 TCGA-B0-5706-11A-01D-1534-10 g.chr9:125674096G>T c.256C>A c.(256-258)Ctg>Atg p.L86M KIRC 9 125674096 125674096 + Missense_Mutation SNP G G T TCGA-B0-5706-01A-11D-1534-10 TCGA-B0-5706-11A-01D-1534-10 g.chr9:125674096G>T c.256C>A c.(256-258)Ctg>Atg p.L86M KIRP 9 125673886 125673886 + Missense_Mutation SNP T T C TCGA-B1-A47M-01A-11D-A25F-10 TCGA-B1-A47M-10A-01D-A25F-10 g.chr9:125673886T>C c.466A>G c.(466-468)Aat>Gat p.N156D LGG 9 125674072 125674072 + Nonsense_Mutation SNP C C A TCGA-S9-A6WG-01A-11D-A33T-08 TCGA-S9-A6WG-10A-01D-A33W-08 g.chr9:125674072C>A c.280G>T c.(280-282)Gaa>Taa p.E94* LIHC 9 125673934 125673934 + Missense_Mutation SNP T T C TCGA-CC-A3MA-01A-11D-A20W-10 TCGA-CC-A3MA-10A-01D-A20W-10 g.chr9:125673934T>C c.418A>G c.(418-420)Act>Gct p.T140A LIHC 9 125674263 125674263 + Missense_Mutation SNP T T C TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr9:125674263T>C c.89A>G c.(88-90)aAt>aGt p.N30S LIHC 9 125674263 125674263 + Missense_Mutation SNP T T C TCGA-G3-A25S-01A-11D-A16V-10 TCGA-G3-A25S-10A-01D-A16V-10 g.chr9:125674263T>C c.89A>G c.(88-90)aAt>aGt p.N30S LUAD 9 125673231 125673231 + Missense_Mutation SNP T T C TCGA-55-6979-01A-11D-1945-08 TCGA-55-6979-11A-01D-1945-08 g.chr9:125673231T>C c.1121A>G c.(1120-1122)aAc>aGc p.N374S LUAD 9 125673595 125673595 + Missense_Mutation SNP G G C TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr9:125673595G>C c.757C>G c.(757-759)Cat>Gat p.H253D LUAD 9 125673695 125673695 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 g.chr9:125673695G>C c.657C>G c.(655-657)atC>atG p.I219M LUAD 9 125673918 125673918 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 g.chr9:125673918G>A c.434C>T c.(433-435)tCt>tTt p.S145F LUSC 9 125673735 125673735 + Missense_Mutation SNP G G C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 g.chr9:125673735G>C c.617C>G c.(616-618)tCt>tGt p.S206C PRAD 9 125673324 125673324 + Missense_Mutation SNP C C T TCGA-EJ-7797-01A-11D-2260-08 TCGA-EJ-7797-10A-01D-2260-08 g.chr9:125673324C>T c.1028G>A c.(1027-1029)cGa>cAa p.R343Q READ 9 125674110 125674110 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr9:125674110C>T c.242G>A c.(241-243)gGc>gAc p.G81D SKCM 9 125673909 125673909 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 g.chr9:125673909G>A c.443C>T c.(442-444)cCt>cTt p.P148L

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 9 125674117 125674117 single base substitution C T missense_variant E79K 235G>A BLCA-CN 9 125674142 125674142 single base substitution G A synonymous_variant V70V 210C>T BLCA-US 9 125673538 125673538 single base substitution C G missense_variant D272H 814G>C BLCA-US 9 125673781 125673781 single base substitution C G missense_variant E191Q 571G>C BRCA-EU 9 125666295 125666295 single base substitution G A downstream_gene_variant BRCA-EU 9 125667551 125667551 single base substitution G A downstream_gene_variant BRCA-EU 9 125667790 125667790 single base substitution G C downstream_gene_variant BRCA-EU 9 125667874 125667874 single base substitution T A downstream_gene_variant BRCA-EU 9 125668042 125668042 single base substitution G C downstream_gene_variant BRCA-EU 9 125668788 125668788 insertion of <=200bp - G downstream_gene_variant BRCA-EU 9 125668867 125668867 single base substitution C T downstream_gene_variant BRCA-EU 9 125669456 125669456 single base substitution T C downstream_gene_variant BRCA-EU 9 125671794 125671794 single base substitution C G 3_prime_UTR_variant BRCA-EU 9 125672623 125672623 single base substitution A T 3_prime_UTR_variant BRCA-EU 9 125672624 125672624 single base substitution T A 3_prime_UTR_variant BRCA-EU 9 125672919 125672919 single base substitution T G 3_prime_UTR_variant BRCA-EU 9 125672989 125672989 single base substitution G T 3_prime_UTR_variant BRCA-EU 9 125673619 125673620 deletion of <=200bp TT - frameshift_variant AS244 BRCA-EU 9 125673712 125673712 single base substitution C G missense_variant D214H 640G>C BRCA-EU 9 125674461 125674463 deletion of <=200bp GAA - intron_variant BRCA-EU 9 125677063 125677065 deletion of <=200bp CCG - upstream_gene_variant BRCA-EU 9 125677922 125677922 single base substitution C G upstream_gene_variant BRCA-EU 9 125678205 125678205 single base substitution G C upstream_gene_variant BRCA-EU 9 125678837 125678837 single base substitution G T upstream_gene_variant BRCA-EU 9 125679155 125679155 single base substitution T C upstream_gene_variant BRCA-EU 9 125679337 125679337 single base substitution A C upstream_gene_variant BRCA-EU 9 125679916 125679916 single base substitution G T upstream_gene_variant BRCA-FR 9 125667551 125667551 single base substitution G A downstream_gene_variant BRCA-FR 9 125672623 125672623 single base substitution A T 3_prime_UTR_variant BRCA-UK 9 125668042 125668042 single base substitution G C downstream_gene_variant BRCA-UK 9 125675584 125675584 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 9 125673289 125673289 single base substitution G A stop_gained Q355* 1063C>T BRCA-US 9 125673378 125673378 single base substitution A G missense_variant L325P 974T>C BRCA-US 9 125673814 125673814 single base substitution C A stop_gained E180* 538G>T BRCA-US 9 125673973 125673973 single base substitution G C missense_variant L127V 379C>G BRCA-US 9 125674188 125674188 single base substitution G C missense_variant S55C 164C>G BRCA-US 9 125674315 125674315 single base substitution C G missense_variant E13Q 37G>C CESC-US 9 125667492 125667492 single base substitution G A downstream_gene_variant CESC-US 9 125673272 125673272 single base substitution C T synonymous_variant L360L 1080G>A CESC-US 9 125673338 125673338 single base substitution C A missense_variant K338N 1014G>T CESC-US 9 125673645 125673645 single base substitution G A missense_variant S236L 707C>T CESC-US 9 125673859 125673859 single base substitution C T missense_variant E165K 493G>A CLLE-ES 9 125668650 125668650 single base substitution A T downstream_gene_variant CLLE-ES 9 125675642 125675642 single base substitution G A upstream_gene_variant CLLE-ES 9 125679850 125679850 single base substitution A G upstream_gene_variant COAD-US 9 125673358 125673358 single base substitution C T missense_variant G332R 994G>A COAD-US 9 125673991 125673991 single base substitution C A stop_gained E121* 361G>T COAD-US 9 125674261 125674261 single base substitution A C missense_variant L31V 91T>G COAD-US 9 125674279 125674279 single base substitution G T missense_variant L25I 73C>A COCA-CN 9 125670945 125670945 single base substitution A C 3_prime_UTR_variant COCA-CN 9 125672624 125672624 single base substitution T A 3_prime_UTR_variant COCA-CN 9 125673032 125673032 single base substitution G A 3_prime_UTR_variant COCA-CN 9 125673052 125673052 single base substitution T G 3_prime_UTR_variant COCA-CN 9 125673140 125673140 single base substitution G A synonymous_variant V404V 1212C>T COCA-CN 9 125674059 125674059 single base substitution T C missense_variant K98R 293A>G COCA-CN 9 125675787 125675787 single base substitution A C upstream_gene_variant ESAD-UK 9 125665637 125665637 deletion of <=200bp T - downstream_gene_variant ESAD-UK 9 125666664 125666664 single base substitution T A downstream_gene_variant ESAD-UK 9 125668703 125668703 single base substitution G A downstream_gene_variant ESAD-UK 9 125668829 125668829 insertion of <=200bp - A downstream_gene_variant ESAD-UK 9 125670311 125670311 single base substitution A C downstream_gene_variant ESAD-UK 9 125670770 125670770 single base substitution C G 3_prime_UTR_variant ESAD-UK 9 125673031 125673031 single base substitution C T 3_prime_UTR_variant ESAD-UK 9 125677778 125677778 single base substitution C G upstream_gene_variant ESAD-UK 9 125678129 125678129 single base substitution T C upstream_gene_variant ESAD-UK 9 125679099 125679099 single base substitution T C upstream_gene_variant KIRC-US 9 125674096 125674096 single base substitution G T missense_variant L86M 256C>A KIRP-US 9 125673886 125673886 single base substitution T C missense_variant N156D 466A>G LAML-KR 9 125677259 125677259 single base substitution A G upstream_gene_variant LAML-KR 9 125677266 125677266 single base substitution G A upstream_gene_variant LIHC-US 9 125674263 125674263 single base substitution T C missense_variant N30S 89A>G LINC-JP 9 125676402 125676402 single base substitution C A upstream_gene_variant LINC-JP 9 125677047 125677047 single base substitution C T upstream_gene_variant LIRI-JP 9 125665367 125665367 single base substitution G T downstream_gene_variant LIRI-JP 9 125666048 125666048 single base substitution A C downstream_gene_variant LIRI-JP 9 125666123 125666123 single base substitution A G downstream_gene_variant LIRI-JP 9 125667217 125667217 single base substitution G A downstream_gene_variant LIRI-JP 9 125667546 125667546 single base substitution G T downstream_gene_variant LIRI-JP 9 125668906 125668906 single base substitution C A downstream_gene_variant LIRI-JP 9 125669045 125669045 single base substitution G A downstream_gene_variant LIRI-JP 9 125669051 125669051 single base substitution G A downstream_gene_variant LIRI-JP 9 125669705 125669705 single base substitution G A downstream_gene_variant LIRI-JP 9 125670711 125670711 single base substitution A G 3_prime_UTR_variant LIRI-JP 9 125671797 125671797 single base substitution A C 3_prime_UTR_variant LIRI-JP 9 125672058 125672058 single base substitution T C 3_prime_UTR_variant LIRI-JP 9 125672485 125672485 single base substitution T C 3_prime_UTR_variant LIRI-JP 9 125672963 125672963 single base substitution C A 3_prime_UTR_variant LIRI-JP 9 125674522 125674522 single base substitution G A intron_variant LIRI-JP 9 125674715 125674715 single base substitution T A intron_variant LIRI-JP 9 125676387 125676387 single base substitution G A upstream_gene_variant LUSC-KR 9 125666802 125666802 single base substitution G T downstream_gene_variant LUSC-KR 9 125667270 125667270 single base substitution C G downstream_gene_variant LUSC-KR 9 125667557 125667557 single base substitution C A downstream_gene_variant LUSC-KR 9 125667678 125667678 single base substitution G A downstream_gene_variant LUSC-KR 9 125667977 125667977 single base substitution G C downstream_gene_variant LUSC-KR 9 125669001 125669001 single base substitution A C downstream_gene_variant LUSC-KR 9 125676425 125676425 single base substitution G T upstream_gene_variant LUSC-KR 9 125676596 125676596 single base substitution A T upstream_gene_variant LUSC-KR 9 125679432 125679432 single base substitution G T upstream_gene_variant LUSC-US 9 125673735 125673735 single base substitution G C missense_variant S206C 617C>G MALY-DE 9 125671185 125671185 single base substitution C G 3_prime_UTR_variant MALY-DE 9 125672623 125672623 single base substitution A T 3_prime_UTR_variant MALY-DE 9 125674492 125674492 deletion of <=200bp T - intron_variant MALY-DE 9 125677844 125677844 single base substitution C G upstream_gene_variant MELA-AU 9 125666604 125666604 single base substitution C T downstream_gene_variant MELA-AU 9 125666907 125666907 single base substitution G A downstream_gene_variant MELA-AU 9 125667615 125667615 single base substitution C G downstream_gene_variant MELA-AU 9 125667694 125667695 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 9 125667813 125667813 single base substitution T G downstream_gene_variant MELA-AU 9 125668023 125668023 single base substitution C T downstream_gene_variant MELA-AU 9 125668281 125668281 single base substitution A T downstream_gene_variant MELA-AU 9 125669059 125669059 single base substitution C T downstream_gene_variant MELA-AU 9 125669433 125669433 single base substitution G A downstream_gene_variant MELA-AU 9 125669854 125669854 single base substitution C G downstream_gene_variant MELA-AU 9 125670109 125670109 single base substitution C T downstream_gene_variant MELA-AU 9 125670213 125670213 single base substitution T C downstream_gene_variant MELA-AU 9 125670425 125670425 single base substitution G A 3_prime_UTR_variant MELA-AU 9 125670520 125670520 single base substitution A G 3_prime_UTR_variant MELA-AU 9 125670644 125670644 single base substitution G A 3_prime_UTR_variant MELA-AU 9 125671309 125671309 single base substitution T A 3_prime_UTR_variant MELA-AU 9 125671602 125671602 single base substitution G A 3_prime_UTR_variant MELA-AU 9 125672470 125672470 single base substitution G A 3_prime_UTR_variant MELA-AU 9 125672620 125672620 single base substitution A C 3_prime_UTR_variant MELA-AU 9 125672981 125672981 single base substitution G A 3_prime_UTR_variant MELA-AU 9 125673214 125673214 single base substitution G A missense_variant R380W 1138C>T MELA-AU 9 125673642 125673642 single base substitution T A missense_variant Q237L 710A>T MELA-AU 9 125673823 125673823 single base substitution G A missense_variant H177Y 529C>T MELA-AU 9 125673846 125673846 single base substitution T G missense_variant D169A 506A>C MELA-AU 9 125674964 125674965 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 125675466 125675466 single base substitution T C intron_variant MELA-AU 9 125675584 125675584 single base substitution G A 5_prime_UTR_variant MELA-AU 9 125675596 125675596 single base substitution C T 5_prime_UTR_variant MELA-AU 9 125675663 125675664 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 9 125675663 125675664 multiple base substitution (>=2bp and <=200bp) GG TA upstream_gene_variant MELA-AU 9 125675687 125675687 single base substitution C T upstream_gene_variant MELA-AU 9 125677401 125677402 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 9 125677677 125677677 single base substitution A T upstream_gene_variant MELA-AU 9 125679652 125679652 single base substitution G A upstream_gene_variant MELA-AU 9 125680027 125680027 single base substitution C T upstream_gene_variant MELA-AU 9 125680432 125680432 single base substitution G A upstream_gene_variant OV-AU 9 125671169 125671169 single base substitution T C 3_prime_UTR_variant OV-AU 9 125677013 125677013 single base substitution C T upstream_gene_variant PACA-AU 9 125667517 125667517 single base substitution C T downstream_gene_variant PACA-AU 9 125667683 125667683 single base substitution A T downstream_gene_variant PACA-AU 9 125673766 125673766 single base substitution C G missense_variant E196Q 586G>C PACA-AU 9 125674155 125674155 single base substitution T G missense_variant Q66P 197A>C PACA-AU 9 125675025 125675025 single base substitution C G intron_variant PACA-AU 9 125679865 125679865 single base substitution C T upstream_gene_variant PACA-CA 9 125666435 125666435 insertion of <=200bp - A downstream_gene_variant PACA-CA 9 125670020 125670020 single base substitution G A downstream_gene_variant PACA-CA 9 125673032 125673032 single base substitution G A 3_prime_UTR_variant PACA-CA 9 125673840 125673840 single base substitution G T missense_variant P171H 512C>A PAEN-IT 9 125670294 125670294 single base substitution T C downstream_gene_variant PAEN-IT 9 125673032 125673032 single base substitution G A 3_prime_UTR_variant PRAD-CA 9 125672624 125672624 single base substitution T A 3_prime_UTR_variant PRAD-UK 9 125667346 125667346 single base substitution C A downstream_gene_variant PRAD-UK 9 125673445 125673445 single base substitution A G missense_variant C303R 907T>C PRAD-UK 9 125674438 125674438 single base substitution G A intron_variant PRAD-US 9 125673324 125673324 single base substitution C T missense_variant R343Q 1028G>A SKCA-BR 9 125666014 125666014 single base substitution G T downstream_gene_variant SKCA-BR 9 125667359 125667359 single base substitution C G downstream_gene_variant SKCA-BR 9 125667496 125667496 single base substitution T G downstream_gene_variant SKCA-BR 9 125674995 125674995 single base substitution G A intron_variant SKCA-BR 9 125675260 125675260 insertion of <=200bp - AT intron_variant SKCA-BR 9 125677853 125677853 single base substitution T C upstream_gene_variant SKCA-BR 9 125679040 125679040 single base substitution G A upstream_gene_variant SKCM-US 9 125673691 125673691 single base substitution G A missense_variant H221Y 661C>T SKCM-US 9 125673909 125673909 single base substitution G A missense_variant P148L 443C>T STAD-US 9 125673310 125673310 single base substitution G T missense_variant H348N 1042C>A STAD-US 9 125673316 125673316 single base substitution G A stop_gained R346* 1036C>T STAD-US 9 125673698 125673698 single base substitution A G synonymous_variant C218C 654T>C STAD-US 9 125673881 125673881 single base substitution A G synonymous_variant S157S 471T>C STAD-US 9 125673938 125673938 single base substitution T C synonymous_variant Q138Q 414A>G STAD-US 9 125674193 125674193 single base substitution A G synonymous_variant A53A 159T>C STAD-US 9 125674239 125674239 single base substitution T C missense_variant Y38C 113A>G THCA-SA 9 125672667 125672667 single base substitution T C 3_prime_UTR_variant UCEC-US 9 125673282 125673282 single base substitution G A missense_variant T357I 1070C>T UCEC-US 9 125673304 125673304 single base substitution C A missense_variant G350C 1048G>T UCEC-US 9 125673591 125673591 single base substitution G T stop_gained S254* 761C>A UCEC-US 9 125673604 125673604 single base substitution C A stop_gained E250* 748G>T UCEC-US 9 125673694 125673694 single base substitution G T missense_variant L220I 658C>A UCEC-US 9 125673960 125673960 single base substitution A C missense_variant L131R 392T>G UCEC-US 9 125673961 125673961 single base substitution G T missense_variant L131I 391C>A UCEC-US 9 125674231 125674231 single base substitution C T missense_variant D41N 121G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-B0-5706-01 COSM487015 c.256C>A p.L86M Substitution - Missense 9:122911817-122911817 - TCGA-AA-3966-01 COSM273484 c.685G>T p.G229C Substitution - Missense 9:122911388-122911388 - TCGA-AP-A0LP-01 COSM1104941 c.1070C>T p.T357I Substitution - Missense 9:122911003-122911003 - TCGA-BH-A0B6-01 COSM3847585 c.538G>T p.E180* Substitution - Nonsense 9:122911535-122911535 - TCGA-BT-A3PH-01 COSM1314427 c.814G>C p.D272H Substitution - Missense 9:122911259-122911259 - TCGA-C5-A1BQ-01 COSM4842393 c.1080G>A p.L360L Substitution - coding silent 9:122910993-122910993 - I2L-P7-Tumor-Organoid COSM5359532 c.1115A>G p.H372R Substitution - Missense 9:122910958-122910958 - TCGA-BR-8487-01 COSM3903879 c.159T>C p.A53A Substitution - coding silent 9:122911914-122911914 - B80 COSM1755919 c.210C>T p.V70V Substitution - coding silent 9:122911863-122911863 - TCGA-BR-8680-01 COSM3903880 c.113A>G p.Y38C Substitution - Missense 9:122911960-122911960 - TCGA-AX-A0J0-01 COSM1104947 c.391C>A p.L131I Substitution - Missense 9:122911682-122911682 - 8061185 COSM3395558 c.197A>C p.Q66P Substitution - Missense 9:122911876-122911876 - TCGA-EE-A2MP-06 COSM3654113 c.443C>T p.P148L Substitution - Missense 9:122911630-122911630 - TCGA-Q1-A5R2-01 COSM4850600 c.1014G>T p.K338N Substitution - Missense 9:122911059-122911059 - B80-Tumor COSM1755919 c.210C>T p.V70V Substitution - coding silent 9:122911863-122911863 - TCGA-BR-7703-01 COSM3903878 c.414A>G p.Q138Q Substitution - coding silent 9:122911659-122911659 - TCGA-B1-A47M-01 COSM4414704 c.466A>G p.N156D Substitution - Missense 9:122911607-122911607 - 3N44-VS-3T44 COSM4982349 c.1267C>T p.L423L Substitution - coding silent 9:122910806-122910806 - YUFERY COSM5410366 c.133C>T p.Q45* Substitution - Nonsense 9:122911940-122911940 - 384 COSM4426814 c.851A>G p.Y284C Substitution - Missense 9:122911222-122911222 - TCGA-BS-A0TC-01 COSM1104946 c.392T>G p.L131R Substitution - Missense 9:122911681-122911681 - PD8623a COSM5801199 c.732_733delAA p.S245fs*5 Deletion - Frameshift 9:122911340-122911341 - UM-SCC-17B COSM4598394 c.769A>G p.N257D Substitution - Missense 9:122911304-122911304 - CSCC-41-T COSM4509294 c.802C>T p.P268S Substitution - Missense 9:122911271-122911271 - TCGA-D1-A16X-01 COSM1104943 c.761C>A p.S254* Substitution - Nonsense 9:122911312-122911312 - TCGA-BR-4361-01 COSM3903876 c.654T>C p.C218C Substitution - coding silent 9:122911419-122911419 - 8058339 COSM4388028 c.586G>C p.E196Q Substitution - Missense 9:122911487-122911487 - ATL071 COSM5711140 c.286_290delAAAAG p.K96fs*33 Deletion - Frameshift 9:122911783-122911787 - TCGA-BR-6452-01 COSM3903874 c.1042C>A p.H348N Substitution - Missense 9:122911031-122911031 - 4436_PT COSM5757305 c.770A>T p.N257I Substitution - Missense 9:122911303-122911303 - PD7215a COSM5788884 c.640G>C p.D214H Substitution - Missense 9:122911433-122911433 - TCGA-BT-A3PH-01 COSM1314428 c.571G>C p.E191Q Substitution - Missense 9:122911502-122911502 - CSB34 COSM5027137 c.1059C>T p.P353P Substitution - coding silent 9:122911014-122911014 - T2269 COSM4742207 c.526T>A p.F176I Substitution - Missense 9:122911547-122911547 - I2L-P19Tb-Tumor-Biopsy COSM5359373 c.375G>A p.K125K Substitution - coding silent 9:122911698-122911698 - TCGA-EJ-7797-01 COSM1472174 c.1028G>A p.R343Q Substitution - Missense 9:122911045-122911045 - MOLT-4 COSM1674810 c.346G>A p.V116M Substitution - Missense 9:122911727-122911727 - PCSI_0083_Pa_P_526 COSM3382416 c.512C>A p.P171H Substitution - Missense 9:122911561-122911561 - T33 COSM5345704 c.1111G>T p.D371Y Substitution - Missense 9:122910962-122910962 - TCGA-AC-A23H-01 COSM3847586 c.37G>C p.E13Q Substitution - Missense 9:122912036-122912036 - 288 COSM3724221 c.1053A>T p.I351I Substitution - coding silent 9:122911020-122911020 - TCGA-A6-6653-01 COSM1459901 c.994G>A p.G332R Substitution - Missense 9:122911079-122911079 - 2492708 COSM5717495 c.528C>T p.F176F Substitution - coding silent 9:122911545-122911545 - DLD1 COSM4626320 c.319G>A p.A107T Substitution - Missense 9:122911754-122911754 - B37-Tumor COSM1755918 c.235G>A p.E79K Substitution - Missense 9:122911838-122911838 - UM-SCC-17B COSM3323992 c.820G>T p.G274C Substitution - Missense 9:122911253-122911253 - TCGA-AD-5900-01 COSM5128983 c.617C>T p.S206F Substitution - Missense 9:122911456-122911456 - TCGA-AA-A02R-01 COSM5127673 c.431A>G p.Q144R Substitution - Missense 9:122911642-122911642 - TCGA-G3-A25S-01 COSM4926972 c.89A>G p.N30S Substitution - Missense 9:122911984-122911984 - TCGA-EB-A44O-01 COSM3654112 c.661C>T p.H221Y Substitution - Missense 9:122911412-122911412 - TCGA-B5-A0JY-01 COSM1104945 c.658C>A p.L220I Substitution - Missense 9:122911415-122911415 - TCGA-A6-5661-01 COSM1459902 c.361G>T p.E121* Substitution - Nonsense 9:122911712-122911712 - ESO-122 COSM1270731 c.505G>A p.D169N Substitution - Missense 9:122911568-122911568 - 2492709 COSM5717495 c.528C>T p.F176F Substitution - coding silent 9:122911545-122911545 - PCSI_0083_Pa_X COSM3382416 c.512C>A p.P171H Substitution - Missense 9:122911561-122911561 - TCGA-AN-A0AK-01 COSM3847584 c.974T>C p.L325P Substitution - Missense 9:122911099-122911099 - TCGA-BS-A0TA-01 COSM1104948 c.121G>A p.D41N Substitution - Missense 9:122911952-122911952 - 587284 COSM1233167 c.712C>T p.P238S Substitution - Missense 9:122911361-122911361 - 2492710 COSM5717495 c.528C>T p.F176F Substitution - coding silent 9:122911545-122911545 - TCGA-A8-A094-01 COSM455320 c.164C>G p.S55C Substitution - Missense 9:122911909-122911909 - S01022 COSM5666212 c.993C>T p.C331C Substitution - coding silent 9:122911080-122911080 - T2269 COSM4742206 c.923G>A p.R308Q Substitution - Missense 9:122911150-122911150 - TCGA-JW-A5VL-01 COSM4846578 c.493G>A p.E165K Substitution - Missense 9:122911580-122911580 - PCSI_0083_Pa_P COSM3382416 c.512C>A p.P171H Substitution - Missense 9:122911561-122911561 - T33 COSM5345703 c.1127A>G p.H376R Substitution - Missense 9:122910946-122910946 - 587390 COSM1233168 c.755A>G p.Q252R Substitution - Missense 9:122911318-122911318 - cSCCP5 COSM143578 c.1244_1245GG>AA p.R415K Substitution - Missense 9:122910828-122910829 - TCGA-C5-A7UH-01 COSM4856741 c.707C>T p.S236L Substitution - Missense 9:122911366-122911366 - TCGA-CG-5721-01 COSM3903877 c.471T>C p.S157S Substitution - coding silent 9:122911602-122911602 - I2L-P19Tb-Tumor-Organoid COSM5359373 c.375G>A p.K125K Substitution - coding silent 9:122911698-122911698 - TCGA-D1-A17M-01 COSM1104942 c.1048G>T p.G350C Substitution - Missense 9:122911025-122911025 - B37 COSM1755918 c.235G>A p.E79K Substitution - Missense 9:122911838-122911838 - TCGA-A8-A094-01 COSM455318 c.379C>G p.L127V Substitution - Missense 9:122911694-122911694 - TCGA-CA-6718-01 COSM1459903 c.91T>G p.L31V Substitution - Missense 9:122911982-122911982 - YUKAT COSM5410365 c.844G>A p.G282R Substitution - Missense 9:122911229-122911229 - TCGA-A8-A094-01 COSM455317 c.1063C>T p.Q355* Substitution - Nonsense 9:122911010-122911010 - CLL031 COSM752762 c.617C>G p.S206C Substitution - Missense 9:122911456-122911456 - sysucc-1317T COSM5450522 c.293A>G p.K98R Substitution - Missense 9:122911780-122911780 - LUAD-VUMN6 COSM348145 c.538G>A p.E180K Substitution - Missense 9:122911535-122911535 - TCGA-HU-8602-01 COSM3903875 c.1036C>T p.R346* Substitution - Nonsense 9:122911037-122911037 - YUSWI COSM1701690 c.931C>A p.L311I Substitution - Missense 9:122911142-122911142 - ESCC_25 COSM5626998 c.762A>T p.S254S Substitution - coding silent 9:122911311-122911311 - TCGA-AA-3510-01 COSM1459904 c.73C>A p.L25I Substitution - Missense 9:122912000-122912000 - 4436_CLM COSM5757305 c.770A>T p.N257I Substitution - Missense 9:122911303-122911303 - TCGA-AP-A059-01 COSM1104944 c.748G>T p.E250* Substitution - Nonsense 9:122911325-122911325 - TCGA-66-2766-01 COSM752762 c.617C>G p.S206C Substitution - Missense 9:122911456-122911456 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.654596 9q33.2 605976

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.L131R c.392T>G 9 125673960 UCEC C A Missense p.G350C c.1048G>T 9 125673304 UCEC C A Missense p.V190L c.568G>T 9 125673784 MM C G Missense p.D272H c.814G>C 9 125673538 BLCA C G Missense p.E191Q c.571G>C 9 125673781 BLCA C G Missense p.K399N c.1197G>C 9 125673155 HNSC C T Missense p.D41N c.121G>A 9 125674231 UCEC C T Missense p.R343Q c.1028G>A 9 125673324 PRAD G A Missense p.P148L c.443C>T 9 125673909 CM G A Missense p.S395F c.1184C>T 9 125673168 CM G A Missense p.T357I c.1070C>T 9 125673282 UCEC G A Nonsense p.Q355* c.1063C>T 9 125673289 BRCA G A Synonymous p.C119C c.357C>T 9 125673995 HNSC G A Synonymous p.P353P c.1059C>T 9 125673293 BRCA G C Missense p.L127V c.379C>G 9 125673973 BRCA G C Missense p.S206C c.617C>G 9 125673735 CLL G C Missense p.S206C c.617C>G 9 125673735 LUSC G C Missense p.S55C c.164C>G 9 125674188 BRCA G C Synonymous p.V70V c.210C>G 9 125674142 BRCA G T Missense p.L86M c.256C>A 9 125674096 RCCC T C 3-UTRSNV . c.1272+1022A>G 9 125672058 HC T C 3-UTRSNV . c.1272+595A>G 9 125672485 HC