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 1 205069074 205069074 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 g.chr1:205069074G>A c.871C>T c.(871-873)Cat>Tat p.H291Y BLCA 1 205069320 205069320 + Missense_Mutation SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr1:205069320C>G c.712G>C c.(712-714)Gag>Cag p.E238Q BLCA 1 205070807 205070807 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 g.chr1:205070807G>C c.553C>G c.(553-555)Ctt>Gtt p.L185V BLCA 1 205070813 205070813 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 g.chr1:205070813G>C c.547C>G c.(547-549)Cag>Gag p.Q183E BRCA 1 205069184 205069184 + Nonsense_Mutation SNP C C T TCGA-AN-A0AM-01A-11W-A050-09 TCGA-AN-A0AM-10A-01W-A055-09 g.chr1:205069184C>T c.761G>A c.(760-762)tGg>tAg p.W254* BRCA 1 205073004 205073004 + Missense_Mutation SNP G G A TCGA-AO-A1KP-01A-11D-A13L-09 TCGA-AO-A1KP-10A-01W-A14R-09 g.chr1:205073004G>A c.503C>T c.(502-504)aCg>aTg p.T168M BRCA 1 205073020 205073020 + Missense_Mutation SNP C C T TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr1:205073020C>T c.487G>A c.(487-489)Ggg>Agg p.G163R COAD 1 205064031 205064031 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:205064031C>A c.1558G>T c.(1558-1560)Gtg>Ttg p.V520L COAD 1 205064086 205064086 + Silent SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:205064086C>T c.1503G>A c.(1501-1503)ccG>ccA p.P501P COAD 1 205065966 205065966 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:205065966T>G c.1240A>C c.(1240-1242)Aat>Cat p.N414H COAD 1 205065976 205065976 + Silent SNP G G A TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr1:205065976G>A c.1230C>T c.(1228-1230)gaC>gaT p.D410D COAD 1 205074220 205074220 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:205074220C>T c.295G>A c.(295-297)Gac>Aac p.D99N COAD 1 205083995 205083995 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:205083995C>T c.140G>A c.(139-141)cGa>cAa p.R47Q COADREAD 1 205064031 205064031 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:205064031C>A c.1558G>T c.(1558-1560)Gtg>Ttg p.V520L COADREAD 1 205064086 205064086 + Silent SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:205064086C>T c.1503G>A c.(1501-1503)ccG>ccA p.P501P COADREAD 1 205065966 205065966 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:205065966T>G c.1240A>C c.(1240-1242)Aat>Cat p.N414H COADREAD 1 205065976 205065976 + Silent SNP G G A TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr1:205065976G>A c.1230C>T c.(1228-1230)gaC>gaT p.D410D COADREAD 1 205074220 205074220 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:205074220C>T c.295G>A c.(295-297)Gac>Aac p.D99N COADREAD 1 205083995 205083995 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:205083995C>T c.140G>A c.(139-141)cGa>cAa p.R47Q ESCA 1 205068124 205068124 + Missense_Mutation SNP C C A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 g.chr1:205068124C>A c.1089G>T c.(1087-1089)gaG>gaT p.E363D ESCA 1 205069382 205069382 + Missense_Mutation SNP G G T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 g.chr1:205069382G>T c.650C>A c.(649-651)aCg>aAg p.T217K GBM 1 205065884 205065884 + Missense_Mutation SNP G G A TCGA-28-2501-01A-01D-1696-08 TCGA-28-2501-10A-01D-1696-08 g.chr1:205065884G>A c.1322C>T c.(1321-1323)tCa>tTa p.S441L GBM 1 205065948 205065948 + Missense_Mutation SNP G G A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 g.chr1:205065948G>A c.1258C>T c.(1258-1260)Ccg>Tcg p.P420S GBMLGG 1 205065884 205065884 + Missense_Mutation SNP G G A TCGA-28-2501-01A-01D-1696-08 TCGA-28-2501-10A-01D-1696-08 g.chr1:205065884G>A c.1322C>T c.(1321-1323)tCa>tTa p.S441L GBMLGG 1 205065948 205065948 + Missense_Mutation SNP G G A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 g.chr1:205065948G>A c.1258C>T c.(1258-1260)Ccg>Tcg p.P420S GBMLGG 1 205068185 205068185 + Missense_Mutation SNP A A G TCGA-DU-A7TA-01A-11D-A33T-08 TCGA-DU-A7TA-10A-01D-A33W-08 g.chr1:205068185A>G c.1028T>C c.(1027-1029)gTa>gCa p.V343A HNSC 1 205069074 205069074 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr1:205069074G>A c.871C>T c.(871-873)Cat>Tat p.H291Y HNSC 1 205069075 205069075 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr1:205069075G>A c.870C>T c.(868-870)ctC>ctT p.L290L HNSC 1 205073025 205073025 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 g.chr1:205073025C>T c.482G>A c.(481-483)aGg>aAg p.R161K KICH 1 205070729 205070729 + Splice_Site SNP T T C TCGA-KL-8328-01A-11D-2310-10 TCGA-KL-8328-11A-01D-2310-10 g.chr1:205070729T>C c.631A>G c.(631-633)Agt>Ggt p.S211G KIPAN 1 205069187 205069187 + Missense_Mutation SNP G G T TCGA-B0-5119-01A-02D-1421-08 TCGA-B0-5119-11A-01D-1421-08 g.chr1:205069187G>T c.758C>A c.(757-759)cCa>cAa p.P253Q KIPAN 1 205070729 205070729 + Splice_Site SNP T T C TCGA-KL-8328-01A-11D-2310-10 TCGA-KL-8328-11A-01D-2310-10 g.chr1:205070729T>C c.631A>G c.(631-633)Agt>Ggt p.S211G KIPAN 1 205084072 205084072 + Missense_Mutation SNP C C G TCGA-BP-4807-01A-01D-1373-10 TCGA-BP-4807-11A-01D-1373-10 g.chr1:205084072C>G c.63G>C c.(61-63)ttG>ttC p.L21F KIPAN 1 205084987 205084987 + Splice_Site SNP T T C TCGA-B0-4815-01A-01D-1501-10 TCGA-B0-4815-11A-02D-1501-10 g.chr1:205084987T>C c.44A>G c.(43-45)gAg>gGg p.E15G KIRC 1 205069187 205069187 + Missense_Mutation SNP G G T TCGA-B0-5119-01A-02D-1421-08 TCGA-B0-5119-11A-01D-1421-08 g.chr1:205069187G>T c.758C>A c.(757-759)cCa>cAa p.P253Q KIRC 1 205084072 205084072 + Missense_Mutation SNP C C G TCGA-BP-4807-01A-01D-1373-10 TCGA-BP-4807-11A-01D-1373-10 g.chr1:205084072C>G c.63G>C c.(61-63)ttG>ttC p.L21F KIRC 1 205084987 205084987 + Splice_Site SNP T T C TCGA-B0-4815-01A-01D-1501-10 TCGA-B0-4815-11A-02D-1501-10 g.chr1:205084987T>C c.44A>G c.(43-45)gAg>gGg p.E15G LGG 1 205068185 205068185 + Missense_Mutation SNP A A G TCGA-DU-A7TA-01A-11D-A33T-08 TCGA-DU-A7TA-10A-01D-A33W-08 g.chr1:205068185A>G c.1028T>C c.(1027-1029)gTa>gCa p.V343A LIHC 1 205065957 205065957 + Missense_Mutation SNP C C T TCGA-K7-A5RG-01A-11D-A28X-10 TCGA-K7-A5RG-10A-01D-A28X-10 g.chr1:205065957C>T c.1249G>A c.(1249-1251)Ggc>Agc p.G417S LIHC 1 205084043 205084043 + Missense_Mutation SNP G G A TCGA-DD-A11C-01A-11D-A12Z-10 TCGA-DD-A11C-11A-11D-A12Z-10 g.chr1:205084043G>A c.92C>T c.(91-93)aCc>aTc p.T31I LUAD 1 205064008 205064008 + Silent SNP G G A TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr1:205064008G>A c.1581C>T c.(1579-1581)ccC>ccT p.P527P LUAD 1 205065867 205065867 + Missense_Mutation SNP G G A TCGA-55-8302-01A-11D-2323-08 TCGA-55-8302-10A-01D-2323-08 g.chr1:205065867G>A c.1339C>T c.(1339-1341)Cca>Tca p.P447S LUAD 1 205065903 205065903 + Nonsense_Mutation SNP C C A TCGA-44-3398-01A-01D-1105-08 TCGA-44-3398-10A-01D-1105-08 g.chr1:205065903C>A c.1303G>T c.(1303-1305)Gag>Tag p.E435* LUAD 1 205070793 205070793 + Silent SNP G G A TCGA-95-A4VN-01A-11D-A25L-08 TCGA-95-A4VN-10A-01D-A25L-08 g.chr1:205070793G>A c.567C>T c.(565-567)ttC>ttT p.F189F LUAD 1 205090984 205090984 + Splice_Site SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr1:205090984C>A c.18G>T c.(16-18)ctG>ctT p.L6L LUSC 1 205064080 205064080 + Silent SNP G G C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 g.chr1:205064080G>C c.1509C>G c.(1507-1509)ctC>ctG p.L503L LUSC 1 205068920 205068920 + Silent SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr1:205068920G>A c.927C>T c.(925-927)atC>atT p.I309I LUSC 1 205068922 205068922 + Missense_Mutation SNP T T A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr1:205068922T>A c.925A>T c.(925-927)Atc>Ttc p.I309F PAAD 1 205073048 205073048 + Missense_Mutation SNP C C A TCGA-YB-A89D-01A-12D-A36O-08 TCGA-YB-A89D-10A-01D-A367-08 g.chr1:205073048C>A c.459G>T c.(457-459)ttG>ttT p.L153F PCPG 1 205070793 205070793 + Missense_Mutation SNP G G C TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 g.chr1:205070793G>C c.567C>G c.(565-567)ttC>ttG p.F189L PRAD 1 205068139 205068144 + In_Frame_Del DEL ATCTTC ATCTTC - TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 g.chr1:205068139_205068144delATCTTC c.1069_1074delGAAGAT c.(1069-1074)gaagatdel p.ED357del PRAD 1 205072996 205072996 + Missense_Mutation SNP C C T TCGA-EJ-5515-01A-01D-1576-08 TCGA-EJ-5515-10A-01D-1577-08 g.chr1:205072996C>T c.511G>A c.(511-513)Gca>Aca p.A171T SKCM 1 205065952 205065952 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:205065952G>A c.1254C>T c.(1252-1254)ccC>ccT p.P418P SKCM 1 205065952 205065952 + Silent SNP G G A TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr1:205065952G>A c.1254C>T c.(1252-1254)ccC>ccT p.P418P SKCM 1 205065953 205065953 + Missense_Mutation SNP G G A TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr1:205065953G>A c.1253C>T c.(1252-1254)cCc>cTc p.P418L SKCM 1 205065991 205065991 + Silent SNP G G A TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr1:205065991G>A c.1215C>T c.(1213-1215)gcC>gcT p.A405A SKCM 1 205068906 205068906 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr1:205068906G>A c.941C>T c.(940-942)tCc>tTc p.S314F SKCM 1 205068928 205068928 + Nonsense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:205068928G>A c.919C>T c.(919-921)Cga>Tga p.R307* SKCM 1 205069147 205069147 + Silent SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr1:205069147G>A c.798C>T c.(796-798)atC>atT p.I266I SKCM 1 205069166 205069166 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:205069166G>A c.779C>T c.(778-780)tCt>tTt p.S260F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 1 205069074 205069074 single base substitution G A missense_variant H291Y 871C>T BLCA-US 1 205070807 205070807 single base substitution G C downstream_gene_variant BLCA-US 1 205070807 205070807 single base substitution G C missense_variant L185V 553C>G BOCA-UK 1 205053430 205053430 single base substitution T C downstream_gene_variant BRCA-EU 1 205050507 205050507 single base substitution A C downstream_gene_variant BRCA-EU 1 205052511 205052511 single base substitution T C downstream_gene_variant BRCA-EU 1 205054965 205054965 single base substitution G T downstream_gene_variant BRCA-EU 1 205055272 205055272 single base substitution C A 3_prime_UTR_variant BRCA-EU 1 205055485 205055485 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 205056779 205056784 deletion of <=200bp TTTCCT - 3_prime_UTR_variant BRCA-EU 1 205057447 205057447 single base substitution A C 3_prime_UTR_variant BRCA-EU 1 205057555 205057555 single base substitution A T 3_prime_UTR_variant BRCA-EU 1 205058634 205058634 single base substitution A G intron_variant BRCA-EU 1 205059456 205059456 single base substitution T A intron_variant BRCA-EU 1 205061823 205061823 single base substitution G T intron_variant BRCA-EU 1 205061926 205061926 single base substitution T A intron_variant BRCA-EU 1 205064761 205064761 single base substitution G C intron_variant BRCA-EU 1 205064876 205064876 single base substitution C T intron_variant BRCA-EU 1 205065601 205065601 single base substitution A T intron_variant BRCA-EU 1 205066350 205066350 single base substitution A G intron_variant BRCA-EU 1 205066700 205066700 single base substitution G A intron_variant BRCA-EU 1 205067264 205067264 single base substitution A C intron_variant BRCA-EU 1 205068073 205068073 single base substitution C G intron_variant BRCA-EU 1 205068654 205068654 single base substitution G C intron_variant BRCA-EU 1 205070323 205070323 single base substitution C G downstream_gene_variant BRCA-EU 1 205070323 205070323 single base substitution C G intron_variant BRCA-EU 1 205071358 205071358 single base substitution C T downstream_gene_variant BRCA-EU 1 205071358 205071358 single base substitution C T intron_variant BRCA-EU 1 205071453 205071453 single base substitution G C downstream_gene_variant BRCA-EU 1 205071453 205071453 single base substitution G C intron_variant BRCA-EU 1 205071560 205071560 single base substitution C T downstream_gene_variant BRCA-EU 1 205071560 205071560 single base substitution C T intron_variant BRCA-EU 1 205071702 205071702 single base substitution C G downstream_gene_variant BRCA-EU 1 205071702 205071702 single base substitution C G intron_variant BRCA-EU 1 205072220 205072220 single base substitution G C downstream_gene_variant BRCA-EU 1 205072220 205072220 single base substitution G C intron_variant BRCA-EU 1 205073094 205073094 single base substitution G C downstream_gene_variant BRCA-EU 1 205073094 205073094 single base substitution G C stop_gained S138* 413C>G BRCA-EU 1 205073443 205073443 single base substitution G C downstream_gene_variant BRCA-EU 1 205073443 205073443 single base substitution G C intron_variant BRCA-EU 1 205073737 205073737 single base substitution G A downstream_gene_variant BRCA-EU 1 205073737 205073737 single base substitution G A intron_variant BRCA-EU 1 205074613 205074613 single base substitution G A intron_variant BRCA-EU 1 205075269 205075269 single base substitution C T intron_variant BRCA-EU 1 205075521 205075521 single base substitution G C intron_variant BRCA-EU 1 205076122 205076122 single base substitution G A intron_variant BRCA-EU 1 205076408 205076408 single base substitution G C intron_variant BRCA-EU 1 205077918 205077918 single base substitution C T intron_variant BRCA-EU 1 205078585 205078586 deletion of <=200bp GG - intron_variant BRCA-EU 1 205078741 205078741 single base substitution T C intron_variant BRCA-EU 1 205079337 205079337 single base substitution G A intron_variant BRCA-EU 1 205079591 205079591 single base substitution A C intron_variant BRCA-EU 1 205079663 205079663 single base substitution G C intron_variant BRCA-EU 1 205080202 205080202 insertion of <=200bp - A intron_variant BRCA-EU 1 205080217 205080217 single base substitution C G intron_variant BRCA-EU 1 205080809 205080809 single base substitution C T intron_variant BRCA-EU 1 205082551 205082551 single base substitution G C intron_variant BRCA-EU 1 205082879 205082879 single base substitution C G intron_variant BRCA-EU 1 205083377 205083377 deletion of <=200bp A - intron_variant BRCA-EU 1 205084239 205084239 single base substitution A G intron_variant BRCA-EU 1 205084250 205084250 single base substitution A C intron_variant BRCA-EU 1 205085064 205085064 single base substitution C G intron_variant BRCA-EU 1 205085627 205085627 single base substitution C T intron_variant BRCA-EU 1 205086147 205086147 deletion of <=200bp T - intron_variant BRCA-EU 1 205086274 205086274 single base substitution A G intron_variant BRCA-EU 1 205086574 205086574 single base substitution A T intron_variant BRCA-EU 1 205087613 205087613 single base substitution C T intron_variant BRCA-EU 1 205088052 205088052 single base substitution C T intron_variant BRCA-EU 1 205089026 205089026 single base substitution G C intron_variant BRCA-EU 1 205089313 205089313 single base substitution T A intron_variant BRCA-EU 1 205089567 205089567 single base substitution C A intron_variant BRCA-EU 1 205090052 205090052 single base substitution G T intron_variant BRCA-EU 1 205090331 205090331 single base substitution C G intron_variant BRCA-EU 1 205090993 205090998 multiple base substitution (>=2bp and <=200bp) GAGGTT GA exon_variant BRCA-EU 1 205090993 205090998 multiple base substitution (>=2bp and <=200bp) GAGGTT GA frameshift_variant NL2 BRCA-EU 1 205090999 205090999 single base substitution C A exon_variant BRCA-EU 1 205090999 205090999 single base substitution C A start_lost M1I 3G>T BRCA-EU 1 205091278 205091278 single base substitution G A upstream_gene_variant BRCA-EU 1 205091392 205091392 single base substitution G C upstream_gene_variant BRCA-EU 1 205091426 205091426 single base substitution C T upstream_gene_variant BRCA-EU 1 205094021 205094021 single base substitution A T upstream_gene_variant BRCA-EU 1 205094412 205094412 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 205095979 205095979 single base substitution G T upstream_gene_variant BRCA-FR 1 205056604 205056604 single base substitution G A 3_prime_UTR_variant BRCA-FR 1 205061823 205061823 single base substitution G T intron_variant BRCA-FR 1 205066700 205066700 single base substitution G A intron_variant BRCA-FR 1 205076445 205076445 single base substitution G T intron_variant BRCA-FR 1 205078596 205078596 single base substitution C T intron_variant BRCA-FR 1 205088052 205088052 single base substitution C T intron_variant BRCA-FR 1 205089208 205089208 single base substitution C T intron_variant BRCA-FR 1 205090331 205090331 single base substitution C G intron_variant BRCA-KR 1 205073053 205073053 single base substitution C A downstream_gene_variant BRCA-KR 1 205073053 205073053 single base substitution C A missense_variant D152Y 454G>T BRCA-UK 1 205079591 205079591 single base substitution A C intron_variant BRCA-UK 1 205080217 205080217 single base substitution C G intron_variant BRCA-UK 1 205081960 205081960 single base substitution C G intron_variant BRCA-US 1 205052741 205052741 single base substitution C T downstream_gene_variant BRCA-US 1 205052791 205052791 single base substitution A C downstream_gene_variant BRCA-US 1 205053330 205053330 single base substitution C T downstream_gene_variant BRCA-US 1 205069184 205069184 single base substitution C T stop_gained W254* 761G>A BRCA-US 1 205073004 205073004 single base substitution G A downstream_gene_variant BRCA-US 1 205073004 205073004 single base substitution G A missense_variant T168M 503C>T BRCA-US 1 205073020 205073020 single base substitution C T downstream_gene_variant BRCA-US 1 205073020 205073020 single base substitution C T missense_variant G163R 487G>A BTCA-JP 1 205053051 205053053 deletion of <=200bp TCA - downstream_gene_variant BTCA-JP 1 205070853 205070853 deletion of <=200bp G - downstream_gene_variant BTCA-JP 1 205070853 205070853 deletion of <=200bp G - intron_variant CESC-US 1 205052803 205052803 single base substitution G A downstream_gene_variant CLLE-ES 1 205068227 205068227 single base substitution C A missense_variant W329L 986G>T CLLE-ES 1 205082598 205082598 single base substitution A T intron_variant CLLE-ES 1 205082787 205082787 single base substitution C A intron_variant CLLE-ES 1 205084969 205084969 single base substitution C T intron_variant COAD-US 1 205064031 205064031 single base substitution C A intron_variant COAD-US 1 205064031 205064031 single base substitution C A missense_variant V520L 1558G>T COAD-US 1 205073024 205073024 single base substitution C T downstream_gene_variant COAD-US 1 205073024 205073024 single base substitution C T synonymous_variant R161R 483G>A COAD-US 1 205083995 205083995 single base substitution C T exon_variant COAD-US 1 205083995 205083995 single base substitution C T missense_variant R47Q 140G>A COCA-CN 1 205053009 205053009 single base substitution A C downstream_gene_variant COCA-CN 1 205057971 205057971 single base substitution C A intron_variant COCA-CN 1 205065733 205065733 single base substitution G T intron_variant COCA-CN 1 205067996 205067996 single base substitution T G intron_variant COCA-CN 1 205069413 205069413 single base substitution A G downstream_gene_variant COCA-CN 1 205069413 205069413 single base substitution A G intron_variant COCA-CN 1 205070674 205070674 single base substitution T G downstream_gene_variant COCA-CN 1 205070674 205070674 single base substitution T G intron_variant COCA-CN 1 205072968 205072968 single base substitution C T downstream_gene_variant COCA-CN 1 205072968 205072968 single base substitution C T intron_variant COCA-CN 1 205073053 205073053 single base substitution C T downstream_gene_variant COCA-CN 1 205073053 205073053 single base substitution C T missense_variant D152N 454G>A COCA-CN 1 205074297 205074297 single base substitution C G splice_acceptor_variant COCA-CN 1 205074331 205074331 single base substitution C A intron_variant ESAD-UK 1 205050536 205050536 single base substitution A G downstream_gene_variant ESAD-UK 1 205053999 205053999 single base substitution T A downstream_gene_variant ESAD-UK 1 205055514 205055514 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 205063044 205063044 single base substitution G A intron_variant ESAD-UK 1 205063132 205063132 insertion of <=200bp - A intron_variant ESAD-UK 1 205065084 205065084 single base substitution G A intron_variant ESAD-UK 1 205070326 205070326 single base substitution C T downstream_gene_variant ESAD-UK 1 205070326 205070326 single base substitution C T intron_variant ESAD-UK 1 205071174 205071174 single base substitution G A downstream_gene_variant ESAD-UK 1 205071174 205071174 single base substitution G A intron_variant ESAD-UK 1 205072658 205072658 single base substitution T G downstream_gene_variant ESAD-UK 1 205072658 205072658 single base substitution T G intron_variant ESAD-UK 1 205075087 205075087 single base substitution T C intron_variant ESAD-UK 1 205075686 205075686 single base substitution A C intron_variant ESAD-UK 1 205076204 205076204 insertion of <=200bp - ATAT intron_variant ESAD-UK 1 205077717 205077717 single base substitution C T intron_variant ESAD-UK 1 205082094 205082094 single base substitution T A intron_variant ESAD-UK 1 205082194 205082194 single base substitution C T intron_variant ESAD-UK 1 205083945 205083945 single base substitution C T exon_variant ESAD-UK 1 205083945 205083945 single base substitution C T missense_variant A64T 190G>A ESAD-UK 1 205089496 205089496 single base substitution A G intron_variant ESAD-UK 1 205091268 205091268 single base substitution C G upstream_gene_variant ESAD-UK 1 205092901 205092901 single base substitution T C upstream_gene_variant ESAD-UK 1 205093529 205093529 single base substitution T C upstream_gene_variant ESAD-UK 1 205094021 205094021 single base substitution A T upstream_gene_variant ESAD-UK 1 205095809 205095809 deletion of <=200bp T - upstream_gene_variant ESAD-UK 1 205095919 205095919 single base substitution C A upstream_gene_variant ESCA-CN 1 205065920 205065920 single base substitution T C missense_variant D429G 1286A>G ESCA-CN 1 205066011 205066011 single base substitution G C missense_variant L399V 1195C>G GBM-US 1 205065948 205065948 single base substitution G A missense_variant P420S 1258C>T KIRC-US 1 205053016 205053016 single base substitution C A downstream_gene_variant KIRC-US 1 205069187 205069187 single base substitution G T missense_variant P253Q 758C>A KIRC-US 1 205084072 205084072 single base substitution C G exon_variant KIRC-US 1 205084072 205084072 single base substitution C G missense_variant L21F 63G>C KIRC-US 1 205084987 205084987 single base substitution T C intron_variant KIRC-US 1 205084987 205084987 single base substitution T C missense_variant E15G 44A>G KIRP-US 1 205052751 205052751 single base substitution G T downstream_gene_variant KIRP-US 1 205053045 205053045 single base substitution A C downstream_gene_variant KIRP-US 1 205064022 205064022 single base substitution C T intron_variant KIRP-US 1 205064022 205064022 single base substitution C T missense_variant E523K 1567G>A LAML-KR 1 205068001 205068001 single base substitution T G intron_variant LICA-CN 1 205068937 205068937 single base substitution G A missense_variant H304Y 910C>T LICA-CN 1 205069304 205069304 single base substitution T A downstream_gene_variant LICA-CN 1 205069304 205069304 single base substitution T A missense_variant Q243L 728A>T LICA-FR 1 205056327 205056327 insertion of <=200bp - T 3_prime_UTR_variant LICA-FR 1 205068922 205068922 single base substitution T C missense_variant I309V 925A>G LICA-FR 1 205080335 205080335 single base substitution A T intron_variant LIHC-US 1 205065957 205065957 single base substitution C T missense_variant G417S 1249G>A LIHC-US 1 205084043 205084043 single base substitution G A exon_variant LIHC-US 1 205084043 205084043 single base substitution G A missense_variant T31I 92C>T LINC-JP 1 205054123 205054123 single base substitution G A downstream_gene_variant LINC-JP 1 205063024 205063024 single base substitution C T intron_variant LINC-JP 1 205067415 205067415 single base substitution T C intron_variant LINC-JP 1 205067826 205067826 single base substitution C T intron_variant LINC-JP 1 205068933 205068933 single base substitution G C missense_variant P305R 914C>G LINC-JP 1 205069508 205069508 single base substitution C T downstream_gene_variant LINC-JP 1 205069508 205069508 single base substitution C T intron_variant LINC-JP 1 205080828 205080828 single base substitution A G intron_variant LINC-JP 1 205094128 205094128 single base substitution A C upstream_gene_variant LINC-JP 1 205096030 205096030 single base substitution T A upstream_gene_variant LIRI-JP 1 205050595 205050595 single base substitution T C downstream_gene_variant LIRI-JP 1 205051102 205051102 single base substitution C A downstream_gene_variant LIRI-JP 1 205051338 205051338 single base substitution T C downstream_gene_variant LIRI-JP 1 205052620 205052620 single base substitution C G downstream_gene_variant LIRI-JP 1 205054049 205054049 single base substitution T G downstream_gene_variant LIRI-JP 1 205054454 205054454 single base substitution G A downstream_gene_variant LIRI-JP 1 205055942 205055942 single base substitution T A 3_prime_UTR_variant LIRI-JP 1 205057528 205057528 single base substitution G T 3_prime_UTR_variant LIRI-JP 1 205057683 205057683 single base substitution A C 3_prime_UTR_variant LIRI-JP 1 205058101 205058101 single base substitution T C intron_variant LIRI-JP 1 205058253 205058253 single base substitution T C intron_variant LIRI-JP 1 205059503 205059503 single base substitution C T intron_variant LIRI-JP 1 205060014 205060014 single base substitution G T intron_variant LIRI-JP 1 205061260 205061260 single base substitution C T intron_variant LIRI-JP 1 205061637 205061637 single base substitution T C intron_variant LIRI-JP 1 205067070 205067070 single base substitution T G intron_variant LIRI-JP 1 205067744 205067744 single base substitution G A intron_variant LIRI-JP 1 205068438 205068438 single base substitution A T intron_variant LIRI-JP 1 205068445 205068445 single base substitution C A intron_variant LIRI-JP 1 205070557 205070557 single base substitution C A downstream_gene_variant LIRI-JP 1 205070557 205070557 single base substitution C A intron_variant LIRI-JP 1 205072588 205072588 single base substitution T G downstream_gene_variant LIRI-JP 1 205072588 205072588 single base substitution T G intron_variant LIRI-JP 1 205074413 205074413 single base substitution G T intron_variant LIRI-JP 1 205075984 205075984 single base substitution G A intron_variant LIRI-JP 1 205076005 205076005 single base substitution A T intron_variant LIRI-JP 1 205076344 205076344 single base substitution T C intron_variant LIRI-JP 1 205076354 205076354 single base substitution T C intron_variant LIRI-JP 1 205079194 205079194 single base substitution C T intron_variant LIRI-JP 1 205079226 205079226 single base substitution G A intron_variant LIRI-JP 1 205080800 205080800 single base substitution T A intron_variant LIRI-JP 1 205084183 205084183 single base substitution T G intron_variant LIRI-JP 1 205085625 205085625 single base substitution T A intron_variant LIRI-JP 1 205085816 205085816 single base substitution C T intron_variant LIRI-JP 1 205088078 205088078 single base substitution T C intron_variant LIRI-JP 1 205091073 205091073 single base substitution G C 5_prime_UTR_variant LIRI-JP 1 205091073 205091073 single base substitution G C exon_variant LIRI-JP 1 205093294 205093294 single base substitution A C upstream_gene_variant LIRI-JP 1 205095206 205095206 single base substitution G C upstream_gene_variant LIRI-JP 1 205095515 205095515 single base substitution A G upstream_gene_variant LIRI-JP 1 205095710 205095710 single base substitution A G upstream_gene_variant LIRI-JP 1 205095917 205095917 single base substitution C T upstream_gene_variant LUSC-KR 1 205050536 205050536 single base substitution A G downstream_gene_variant LUSC-KR 1 205051343 205051343 single base substitution G C downstream_gene_variant LUSC-KR 1 205051388 205051388 single base substitution G C downstream_gene_variant LUSC-KR 1 205053049 205053049 single base substitution C A downstream_gene_variant LUSC-KR 1 205060641 205060641 single base substitution A G intron_variant LUSC-KR 1 205062663 205062663 single base substitution C T intron_variant LUSC-KR 1 205070131 205070131 single base substitution T G downstream_gene_variant LUSC-KR 1 205070131 205070131 single base substitution T G intron_variant LUSC-KR 1 205074475 205074475 single base substitution T A intron_variant LUSC-KR 1 205077110 205077110 single base substitution C T intron_variant LUSC-KR 1 205077984 205077984 single base substitution T G intron_variant LUSC-KR 1 205081505 205081505 single base substitution G A intron_variant LUSC-KR 1 205087588 205087588 single base substitution A C intron_variant LUSC-KR 1 205090601 205090601 single base substitution T A intron_variant LUSC-KR 1 205091548 205091548 single base substitution T C upstream_gene_variant LUSC-KR 1 205091739 205091739 single base substitution G C upstream_gene_variant LUSC-KR 1 205094218 205094218 single base substitution T A upstream_gene_variant LUSC-US 1 205064080 205064080 single base substitution G C intron_variant LUSC-US 1 205064080 205064080 single base substitution G C synonymous_variant L503L 1509C>G LUSC-US 1 205068920 205068920 single base substitution G A synonymous_variant I309I 927C>T LUSC-US 1 205068922 205068922 single base substitution T A missense_variant I309F 925A>T MALY-DE 1 205051677 205051677 single base substitution G A downstream_gene_variant MALY-DE 1 205060030 205060030 single base substitution A C intron_variant MALY-DE 1 205067651 205067651 single base substitution A C intron_variant MALY-DE 1 205068742 205068742 single base substitution G A intron_variant MALY-DE 1 205071624 205071624 deletion of <=200bp G - downstream_gene_variant MALY-DE 1 205071624 205071624 deletion of <=200bp G - intron_variant MALY-DE 1 205072638 205072638 single base substitution C T downstream_gene_variant MALY-DE 1 205072638 205072638 single base substitution C T intron_variant MALY-DE 1 205073798 205073798 single base substitution G C downstream_gene_variant MALY-DE 1 205073798 205073798 single base substitution G C intron_variant MALY-DE 1 205078671 205078671 single base substitution T G intron_variant MALY-DE 1 205079679 205079679 single base substitution A G intron_variant MALY-DE 1 205088674 205088674 single base substitution C T intron_variant MALY-DE 1 205088969 205088969 single base substitution T C intron_variant MALY-DE 1 205090276 205090276 single base substitution G A intron_variant MALY-DE 1 205091705 205091705 single base substitution T C upstream_gene_variant MALY-DE 1 205092375 205092375 single base substitution G A upstream_gene_variant MELA-AU 1 205050725 205050725 single base substitution G A downstream_gene_variant MELA-AU 1 205050790 205050790 single base substitution C T downstream_gene_variant MELA-AU 1 205050832 205050832 single base substitution G A downstream_gene_variant MELA-AU 1 205051830 205051830 single base substitution C T downstream_gene_variant MELA-AU 1 205051920 205051920 single base substitution G C downstream_gene_variant MELA-AU 1 205052919 205052919 single base substitution C T downstream_gene_variant MELA-AU 1 205053251 205053251 single base substitution G A downstream_gene_variant MELA-AU 1 205053821 205053821 single base substitution G A downstream_gene_variant MELA-AU 1 205054090 205054090 single base substitution G A downstream_gene_variant MELA-AU 1 205054096 205054096 single base substitution G A downstream_gene_variant MELA-AU 1 205054926 205054926 single base substitution A G downstream_gene_variant MELA-AU 1 205055500 205055500 single base substitution G A 3_prime_UTR_variant MELA-AU 1 205056869 205056869 single base substitution A T 3_prime_UTR_variant MELA-AU 1 205057149 205057149 single base substitution T C 3_prime_UTR_variant MELA-AU 1 205057621 205057621 single base substitution C T 3_prime_UTR_variant MELA-AU 1 205057805 205057805 single base substitution G A 3_prime_UTR_variant MELA-AU 1 205058590 205058590 single base substitution G A intron_variant MELA-AU 1 205058630 205058630 single base substitution G A intron_variant MELA-AU 1 205059083 205059083 single base substitution G A intron_variant MELA-AU 1 205059171 205059171 single base substitution G A intron_variant MELA-AU 1 205059250 205059250 single base substitution G A intron_variant MELA-AU 1 205059798 205059798 single base substitution G A intron_variant MELA-AU 1 205059868 205059868 single base substitution G A intron_variant MELA-AU 1 205060483 205060483 single base substitution G A intron_variant MELA-AU 1 205061678 205061678 single base substitution G A intron_variant MELA-AU 1 205062004 205062004 single base substitution C T intron_variant MELA-AU 1 205062146 205062146 single base substitution G A intron_variant MELA-AU 1 205062565 205062565 single base substitution G A intron_variant MELA-AU 1 205062880 205062880 single base substitution G A intron_variant MELA-AU 1 205063412 205063412 single base substitution C A intron_variant MELA-AU 1 205063631 205063631 single base substitution G A intron_variant MELA-AU 1 205063902 205063902 single base substitution G A intron_variant MELA-AU 1 205063962 205063962 single base substitution C T intron_variant MELA-AU 1 205065310 205065311 multiple base substitution (>=2bp and <=200bp) GA AC intron_variant MELA-AU 1 205065701 205065701 single base substitution G A intron_variant MELA-AU 1 205065895 205065895 single base substitution C T synonymous_variant K437K 1311G>A MELA-AU 1 205065905 205065905 single base substitution G A missense_variant S434L 1301C>T MELA-AU 1 205066267 205066267 single base substitution G A intron_variant MELA-AU 1 205066381 205066381 single base substitution G A intron_variant MELA-AU 1 205066543 205066543 single base substitution G A intron_variant MELA-AU 1 205067010 205067010 single base substitution C T intron_variant MELA-AU 1 205067150 205067150 single base substitution G A intron_variant MELA-AU 1 205067358 205067358 single base substitution A G intron_variant MELA-AU 1 205068010 205068010 single base substitution G A intron_variant MELA-AU 1 205068339 205068339 single base substitution C T intron_variant MELA-AU 1 205068783 205068783 single base substitution A C intron_variant MELA-AU 1 205069446 205069447 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 205069446 205069447 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 205069463 205069463 single base substitution G A downstream_gene_variant MELA-AU 1 205069463 205069463 single base substitution G A intron_variant MELA-AU 1 205069649 205069649 single base substitution G A downstream_gene_variant MELA-AU 1 205069649 205069649 single base substitution G A intron_variant MELA-AU 1 205069809 205069809 single base substitution G A downstream_gene_variant MELA-AU 1 205069809 205069809 single base substitution G A intron_variant MELA-AU 1 205070218 205070218 single base substitution G A downstream_gene_variant MELA-AU 1 205070218 205070218 single base substitution G A intron_variant MELA-AU 1 205070607 205070607 single base substitution A G downstream_gene_variant MELA-AU 1 205070607 205070607 single base substitution A G intron_variant MELA-AU 1 205070858 205070858 single base substitution G A downstream_gene_variant MELA-AU 1 205070858 205070858 single base substitution G A intron_variant MELA-AU 1 205071134 205071134 single base substitution C T downstream_gene_variant MELA-AU 1 205071134 205071134 single base substitution C T intron_variant MELA-AU 1 205071601 205071601 single base substitution G A downstream_gene_variant MELA-AU 1 205071601 205071601 single base substitution G A intron_variant MELA-AU 1 205071649 205071649 single base substitution G A downstream_gene_variant MELA-AU 1 205071649 205071649 single base substitution G A intron_variant MELA-AU 1 205072101 205072101 single base substitution A G downstream_gene_variant MELA-AU 1 205072101 205072101 single base substitution A G intron_variant MELA-AU 1 205072141 205072141 single base substitution A T downstream_gene_variant MELA-AU 1 205072141 205072141 single base substitution A T intron_variant MELA-AU 1 205072196 205072196 single base substitution G A downstream_gene_variant MELA-AU 1 205072196 205072196 single base substitution G A intron_variant MELA-AU 1 205072339 205072339 single base substitution G A downstream_gene_variant MELA-AU 1 205072339 205072339 single base substitution G A intron_variant MELA-AU 1 205072971 205072971 single base substitution G A downstream_gene_variant MELA-AU 1 205072971 205072971 single base substitution G A intron_variant MELA-AU 1 205073005 205073005 single base substitution T A downstream_gene_variant MELA-AU 1 205073005 205073005 single base substitution T A missense_variant T168S 502A>T MELA-AU 1 205073088 205073088 single base substitution G A downstream_gene_variant MELA-AU 1 205073088 205073088 single base substitution G A missense_variant S140F 419C>T MELA-AU 1 205073305 205073305 single base substitution G A downstream_gene_variant MELA-AU 1 205073305 205073305 single base substitution G A intron_variant MELA-AU 1 205073307 205073307 single base substitution G A downstream_gene_variant MELA-AU 1 205073307 205073307 single base substitution G A intron_variant MELA-AU 1 205073449 205073449 single base substitution G A downstream_gene_variant MELA-AU 1 205073449 205073449 single base substitution G A intron_variant MELA-AU 1 205073490 205073490 single base substitution A T downstream_gene_variant MELA-AU 1 205073490 205073490 single base substitution A T intron_variant MELA-AU 1 205073739 205073739 single base substitution G A downstream_gene_variant MELA-AU 1 205073739 205073739 single base substitution G A intron_variant MELA-AU 1 205074105 205074105 single base substitution A G downstream_gene_variant MELA-AU 1 205074105 205074105 single base substitution A G intron_variant MELA-AU 1 205074115 205074115 single base substitution G A downstream_gene_variant MELA-AU 1 205074115 205074115 single base substitution G A intron_variant MELA-AU 1 205074685 205074685 single base substitution T C intron_variant MELA-AU 1 205075257 205075257 single base substitution G A intron_variant MELA-AU 1 205075491 205075491 single base substitution G A intron_variant MELA-AU 1 205075962 205075962 single base substitution G A intron_variant MELA-AU 1 205076087 205076087 single base substitution G A intron_variant MELA-AU 1 205076180 205076180 single base substitution A G intron_variant MELA-AU 1 205076217 205076217 single base substitution C T intron_variant MELA-AU 1 205076314 205076314 single base substitution G A intron_variant MELA-AU 1 205076582 205076582 single base substitution G A intron_variant MELA-AU 1 205076630 205076630 single base substitution G A intron_variant MELA-AU 1 205076735 205076735 single base substitution G A intron_variant MELA-AU 1 205076797 205076797 single base substitution G A intron_variant MELA-AU 1 205076805 205076805 single base substitution G A intron_variant MELA-AU 1 205077326 205077326 single base substitution G A intron_variant MELA-AU 1 205078199 205078199 single base substitution G A intron_variant MELA-AU 1 205078573 205078573 single base substitution G A intron_variant MELA-AU 1 205078575 205078575 single base substitution G A intron_variant MELA-AU 1 205078791 205078791 single base substitution G A intron_variant MELA-AU 1 205080118 205080118 single base substitution G A intron_variant MELA-AU 1 205080245 205080245 single base substitution G A intron_variant MELA-AU 1 205081745 205081745 single base substitution G A intron_variant MELA-AU 1 205081849 205081849 single base substitution T A intron_variant MELA-AU 1 205082677 205082677 single base substitution G C intron_variant MELA-AU 1 205082820 205082820 single base substitution T C intron_variant MELA-AU 1 205083444 205083444 single base substitution A C intron_variant MELA-AU 1 205083460 205083460 single base substitution C T intron_variant MELA-AU 1 205083756 205083756 single base substitution G A intron_variant MELA-AU 1 205084416 205084416 single base substitution G A intron_variant MELA-AU 1 205084430 205084430 single base substitution G A intron_variant MELA-AU 1 205085105 205085105 single base substitution G A intron_variant MELA-AU 1 205086858 205086858 single base substitution G A intron_variant MELA-AU 1 205086967 205086967 single base substitution G A intron_variant MELA-AU 1 205087528 205087528 single base substitution A G intron_variant MELA-AU 1 205088289 205088289 single base substitution G A intron_variant MELA-AU 1 205088570 205088570 single base substitution G A intron_variant MELA-AU 1 205089479 205089479 single base substitution G A intron_variant MELA-AU 1 205089552 205089552 single base substitution G A intron_variant MELA-AU 1 205089820 205089820 single base substitution G A intron_variant MELA-AU 1 205090294 205090294 single base substitution G A intron_variant MELA-AU 1 205090439 205090439 deletion of <=200bp A - intron_variant MELA-AU 1 205091073 205091073 single base substitution G C 5_prime_UTR_variant MELA-AU 1 205091073 205091073 single base substitution G C exon_variant MELA-AU 1 205091337 205091337 single base substitution G A upstream_gene_variant MELA-AU 1 205091352 205091352 single base substitution C T upstream_gene_variant MELA-AU 1 205091408 205091408 single base substitution C T upstream_gene_variant MELA-AU 1 205091662 205091662 single base substitution T C upstream_gene_variant MELA-AU 1 205093506 205093506 single base substitution G A upstream_gene_variant MELA-AU 1 205094762 205094762 single base substitution G A upstream_gene_variant MELA-AU 1 205094855 205094855 single base substitution C T upstream_gene_variant MELA-AU 1 205094898 205094898 single base substitution G A upstream_gene_variant MELA-AU 1 205094959 205094959 single base substitution C T upstream_gene_variant MELA-AU 1 205095853 205095853 single base substitution G A upstream_gene_variant ORCA-IN 1 205055856 205055856 single base substitution G C 3_prime_UTR_variant ORCA-IN 1 205063815 205063815 single base substitution G C intron_variant ORCA-IN 1 205064099 205064099 single base substitution G C intron_variant ORCA-IN 1 205064099 205064099 single base substitution G C missense_variant S497C 1490C>G ORCA-IN 1 205074162 205074162 single base substitution C T downstream_gene_variant ORCA-IN 1 205074162 205074162 single base substitution C T missense_variant R118Q 353G>A ORCA-IN 1 205084184 205084184 single base substitution G T intron_variant ORCA-IN 1 205094978 205094978 single base substitution G T upstream_gene_variant OV-AU 1 205061830 205061830 single base substitution T A intron_variant OV-AU 1 205083339 205083339 single base substitution G T intron_variant OV-AU 1 205089594 205089594 single base substitution C A intron_variant OV-AU 1 205091140 205091140 single base substitution C T 5_prime_UTR_variant OV-AU 1 205091140 205091140 single base substitution C T upstream_gene_variant OV-AU 1 205091426 205091426 single base substitution C G upstream_gene_variant OV-AU 1 205092138 205092138 single base substitution T A upstream_gene_variant OV-AU 1 205092757 205092757 single base substitution T G upstream_gene_variant PACA-AU 1 205051781 205051781 single base substitution G A downstream_gene_variant PACA-AU 1 205052334 205052334 single base substitution A G downstream_gene_variant PACA-AU 1 205062682 205062682 single base substitution A G intron_variant PACA-AU 1 205066447 205066447 single base substitution G A splice_region_variant PACA-AU 1 205069199 205069199 single base substitution G A splice_region_variant PACA-AU 1 205073162 205073162 single base substitution G A downstream_gene_variant PACA-AU 1 205073162 205073162 single base substitution G A intron_variant PACA-AU 1 205075870 205075870 single base substitution A G intron_variant PACA-AU 1 205076152 205076152 single base substitution A G intron_variant PACA-AU 1 205076204 205076204 insertion of <=200bp - AT intron_variant PACA-AU 1 205076217 205076217 single base substitution C T intron_variant PACA-AU 1 205077918 205077918 single base substitution C T intron_variant PACA-AU 1 205080989 205080989 single base substitution T A intron_variant PACA-AU 1 205082783 205082783 single base substitution G A intron_variant PACA-AU 1 205082819 205082819 insertion of <=200bp - TC intron_variant PACA-AU 1 205093370 205093370 single base substitution G A upstream_gene_variant PACA-CA 1 205052278 205052278 deletion of <=200bp A - downstream_gene_variant PACA-CA 1 205052592 205052592 single base substitution C G downstream_gene_variant PACA-CA 1 205054690 205054690 single base substitution T A downstream_gene_variant PACA-CA 1 205060377 205060377 single base substitution G A intron_variant PACA-CA 1 205064152 205064152 single base substitution G C synonymous_variant S479S 1437C>G PACA-CA 1 205065182 205065182 single base substitution G A intron_variant PACA-CA 1 205065975 205065975 single base substitution G A missense_variant P411S 1231C>T PACA-CA 1 205067876 205067876 single base substitution G C intron_variant PACA-CA 1 205072997 205072997 single base substitution G A downstream_gene_variant PACA-CA 1 205072997 205072997 single base substitution G A synonymous_variant N170N 510C>T PACA-CA 1 205073161 205073161 single base substitution C T downstream_gene_variant PACA-CA 1 205073161 205073161 single base substitution C T intron_variant PACA-CA 1 205074005 205074005 single base substitution G C downstream_gene_variant PACA-CA 1 205074005 205074005 single base substitution G C intron_variant PACA-CA 1 205076185 205076186 deletion of <=200bp TG - intron_variant PACA-CA 1 205076216 205076217 deletion of <=200bp AC - intron_variant PACA-CA 1 205077914 205077917 deletion of <=200bp AGCA - intron_variant PACA-CA 1 205080100 205080100 single base substitution G A intron_variant PACA-CA 1 205081308 205081308 single base substitution T A intron_variant PACA-CA 1 205081484 205081484 single base substitution T C intron_variant PACA-CA 1 205083968 205083968 single base substitution C T exon_variant PACA-CA 1 205083968 205083968 single base substitution C T missense_variant R56K 167G>A PACA-CA 1 205085745 205085745 single base substitution C T intron_variant PACA-CA 1 205086925 205086925 insertion of <=200bp - AT intron_variant PACA-CA 1 205087126 205087126 single base substitution C T intron_variant PACA-CA 1 205087524 205087526 deletion of <=200bp GGT - intron_variant PACA-CA 1 205089847 205089847 single base substitution T A intron_variant PACA-CA 1 205092318 205092318 single base substitution G A upstream_gene_variant PACA-CA 1 205093029 205093029 single base substitution C G upstream_gene_variant PACA-CA 1 205094866 205094866 single base substitution C A upstream_gene_variant PBCA-DE 1 205056641 205056641 single base substitution C T 3_prime_UTR_variant PBCA-DE 1 205073125 205073125 deletion of <=200bp T - downstream_gene_variant PBCA-DE 1 205073125 205073125 deletion of <=200bp T - frameshift_variant M128 PBCA-DE 1 205073129 205073129 insertion of <=200bp - CT downstream_gene_variant PBCA-DE 1 205073129 205073129 insertion of <=200bp - CT frameshift_variant C126C? PBCA-DE 1 205076185 205076186 deletion of <=200bp TG - intron_variant PBCA-DE 1 205087126 205087126 single base substitution C T intron_variant PBCA-DE 1 205087969 205087969 single base substitution G A intron_variant PBCA-DE 1 205088499 205088499 deletion of <=200bp G - intron_variant PBCA-DE 1 205094700 205094700 single base substitution G A upstream_gene_variant PRAD-CA 1 205082122 205082122 single base substitution G A intron_variant PRAD-UK 1 205062796 205062796 single base substitution T G intron_variant PRAD-UK 1 205075629 205075629 single base substitution G C intron_variant PRAD-US 1 205068139 205068144 deletion of <=200bp ATCTTC - inframe_deletion ED357 PRAD-US 1 205072996 205072996 single base substitution C T downstream_gene_variant PRAD-US 1 205072996 205072996 single base substitution C T missense_variant A171T 511G>A READ-US 1 205052783 205052783 single base substitution C A downstream_gene_variant RECA-EU 1 205067682 205067682 single base substitution G T intron_variant RECA-EU 1 205070703 205070703 single base substitution C A downstream_gene_variant RECA-EU 1 205070703 205070703 single base substitution C A intron_variant RECA-EU 1 205080416 205080416 single base substitution A G intron_variant RECA-EU 1 205083348 205083348 single base substitution A G intron_variant RECA-EU 1 205090280 205090280 single base substitution A T intron_variant SKCA-BR 1 205052018 205052018 single base substitution G A downstream_gene_variant SKCA-BR 1 205053722 205053722 insertion of <=200bp - CCT downstream_gene_variant SKCA-BR 1 205056326 205056327 deletion of <=200bp AT - 3_prime_UTR_variant SKCA-BR 1 205056986 205056986 single base substitution T C 3_prime_UTR_variant SKCA-BR 1 205062587 205062587 single base substitution A C intron_variant SKCA-BR 1 205063074 205063074 single base substitution C T intron_variant SKCA-BR 1 205066766 205066766 single base substitution G A intron_variant SKCA-BR 1 205067972 205067973 deletion of <=200bp CA - intron_variant SKCA-BR 1 205068887 205068887 single base substitution G A synonymous_variant I320I 960C>T SKCA-BR 1 205068966 205068966 single base substitution A G intron_variant SKCA-BR 1 205076215 205076215 insertion of <=200bp - TAC intron_variant SKCA-BR 1 205076424 205076424 single base substitution G A intron_variant SKCA-BR 1 205077074 205077074 insertion of <=200bp - CA intron_variant SKCA-BR 1 205082100 205082100 single base substitution A T intron_variant SKCA-BR 1 205084288 205084288 single base substitution G A intron_variant SKCA-BR 1 205085959 205085959 single base substitution A G intron_variant SKCA-BR 1 205086747 205086747 single base substitution C T intron_variant SKCA-BR 1 205091275 205091275 single base substitution A T upstream_gene_variant SKCA-BR 1 205094430 205094430 single base substitution G C upstream_gene_variant SKCA-BR 1 205094546 205094548 deletion of <=200bp CTT - upstream_gene_variant SKCA-BR 1 205095845 205095845 insertion of <=200bp - CGG upstream_gene_variant SKCM-US 1 205052974 205052974 single base substitution G A downstream_gene_variant SKCM-US 1 205053191 205053191 single base substitution G A downstream_gene_variant SKCM-US 1 205053200 205053200 single base substitution G A downstream_gene_variant SKCM-US 1 205065952 205065952 single base substitution G A synonymous_variant P418P 1254C>T SKCM-US 1 205065991 205065991 single base substitution G A synonymous_variant A405A 1215C>T SKCM-US 1 205068906 205068906 single base substitution G A missense_variant S314F 941C>T SKCM-US 1 205068928 205068928 single base substitution G A stop_gained R307* 919C>T SKCM-US 1 205069147 205069147 single base substitution G A synonymous_variant I266I 798C>T SKCM-US 1 205069166 205069166 single base substitution G A missense_variant S260F 779C>T SKCM-US 1 205085105 205085105 single base substitution G A intron_variant STAD-US 1 205052683 205052683 single base substitution A G downstream_gene_variant STAD-US 1 205053000 205053000 single base substitution G A downstream_gene_variant STAD-US 1 205053001 205053001 single base substitution C T downstream_gene_variant STAD-US 1 205053297 205053297 single base substitution A G downstream_gene_variant STAD-US 1 205053329 205053329 insertion of <=200bp - C downstream_gene_variant STAD-US 1 205065950 205065950 deletion of <=200bp G - frameshift_variant P419 STAD-US 1 205066019 205066019 single base substitution G C stop_gained S396* 1187C>G STAD-US 1 205069381 205069381 single base substitution C T downstream_gene_variant STAD-US 1 205069381 205069381 single base substitution C T synonymous_variant T217T 651G>A STAD-US 1 205074295 205074295 single base substitution A G missense_variant W74R 220T>C STAD-US 1 205074295 205074295 single base substitution A G splice_region_variant UCEC-US 1 205052752 205052752 single base substitution C T downstream_gene_variant UCEC-US 1 205052943 205052943 single base substitution C T downstream_gene_variant UCEC-US 1 205052996 205052996 single base substitution C A downstream_gene_variant UCEC-US 1 205053344 205053344 single base substitution C A downstream_gene_variant UCEC-US 1 205053387 205053387 single base substitution A G downstream_gene_variant UCEC-US 1 205057915 205057915 single base substitution T G stop_lost *501C 1503A>C UCEC-US 1 205057915 205057915 single base substitution T G stop_lost *539C 1617A>C UCEC-US 1 205064139 205064139 single base substitution C A missense_variant A484S 1450G>T UCEC-US 1 205068201 205068201 single base substitution C A stop_gained E338* 1012G>T UCEC-US 1 205069347 205069347 single base substitution C A downstream_gene_variant UCEC-US 1 205069347 205069347 single base substitution C A stop_gained E229* 685G>T UCEC-US 1 205073134 205073134 single base substitution C T downstream_gene_variant UCEC-US 1 205073134 205073134 single base substitution C T missense_variant V125M 373G>A UCEC-US 1 205074201 205074201 single base substitution C T downstream_gene_variant UCEC-US 1 205074201 205074201 single base substitution C T missense_variant R105Q 314G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AA-A00N-01 COSM298782 c.295G>A p.D99N Substitution - Missense 1:205105092-205105092 - 585270 COSM326329 c.1105G>C p.A369P Substitution - Missense 1:205097387-205097387 - Pat_28_B COSM5845224 c.317delT p.F106fs*6 Deletion - Frameshift 1:205105070-205105070 - TCGA-CA-6717-01 COSM1338150 c.1558G>T p.V520L Substitution - Missense 1:205094903-205094903 - 2492721 COSM5719460 c.736C>T p.Q246* Substitution - Nonsense 1:205100168-205100168 - PT35 COSM4487109 c.313C>T p.R105* Substitution - Nonsense 1:205105074-205105074 - TCGA-06-0213 COSM2150850 c.1258C>T p.P420S Substitution - Missense 1:205096820-205096820 - 15T COSM3710526 c.353G>A p.R118Q Substitution - Missense 1:205105034-205105034 - pfg016T COSM1639693 c.219-7delT p.? Unknown 1:205105175-205105175 - PT35 COSM5911492 c.1167-1G>A p.? Unknown 1:205096912-205096912 - TCGA-B5-A11E-01 COSM902721 c.1617A>C p.*539C Nonstop extension 1:205088787-205088787 - CHC205T COSM3746744 c.633-5C>T p.? Unknown 1:205100276-205100276 - 37M COSM5584000 c.914C>T p.P305L Substitution - Missense 1:205099805-205099805 - PCSI_0139_Pa_X COSM3376944 c.1231C>T p.P411S Substitution - Missense 1:205096847-205096847 - TCGA-18-3409-01 COSM677960 c.925A>T p.I309F Substitution - Missense 1:205099794-205099794 - TCGA-FW-A3R5-06 COSM3864236 c.779C>T p.S260F Substitution - Missense 1:205100038-205100038 - TCGA-B5-A0JY-01 COSM902723 c.1012G>T p.E338* Substitution - Nonsense 1:205099073-205099073 - PD18749a COSM5780600 c.413C>G p.S138* Substitution - Nonsense 1:205103966-205103966 - TCGA-DW-5561-01 COSM3984651 c.1567G>A p.E523K Substitution - Missense 1:205094894-205094894 - CSCC-44-T COSM4447023 c.219-3C>G p.? Unknown 1:205105171-205105171 - 2492729 COSM3482143 c.941C>T p.S314F Substitution - Missense 1:205099778-205099778 - YUHAMA COSM5379349 c.834C>T p.I278I Substitution - coding silent 1:205099983-205099983 - TCGA-AX-A0J0-01 COSM902724 c.685G>T p.E229* Substitution - Nonsense 1:205100219-205100219 - WA17 COSM241373 c.529G>C p.V177L Substitution - Missense 1:205101703-205101703 - 19 COSM5745794 c.851G>A p.G284D Substitution - Missense 1:205099966-205099966 - 2293782 COSM4608252 c.1083G>T p.E361D Substitution - Missense 1:205099002-205099002 - TCGA-F1-A448-01 COSM4027382 c.651G>A p.T217T Substitution - coding silent 1:205100253-205100253 - TCGA-BP-4807-01 COSM3360597 c.63G>C p.L21F Substitution - Missense 1:205114944-205114944 - TCGA-B0-4815-01 COSM463808 c.44A>G p.E15G Substitution - Missense 1:205115859-205115859 - HCC127T COSM5822879 c.728A>T p.Q243L Substitution - Missense 1:205100176-205100176 - TCGA-D1-A103-01 COSM902726 c.314G>A p.R105Q Substitution - Missense 1:205105073-205105073 - H1155 COSM1195707 c.1493C>T p.P498L Substitution - Missense 1:205094968-205094968 - TCGA-EQ-A4SO-01 COSM4027381 c.1187C>G p.S396* Substitution - Nonsense 1:205096891-205096891 - ESCC-112T COSM3934410 c.1195C>G p.L399V Substitution - Missense 1:205096883-205096883 - T3498 COSM4720575 c.564C>A p.S188S Substitution - coding silent 1:205101668-205101668 - OV207 COSM252770 c.650C>T p.T217M Substitution - Missense 1:205100254-205100254 - PCSI_0038_Pa_X COSM3376943 c.1437C>G p.S479S Substitution - coding silent 1:205095024-205095024 - 587284 COSM1223278 c.598G>A p.A200T Substitution - Missense 1:205101634-205101634 - CA3 COSM1166200 c.1129G>A p.V377I Substitution - Missense 1:205097363-205097363 - TCGA-EE-A29D-06 COSM3482144 c.798C>T p.I266I Substitution - coding silent 1:205100019-205100019 - KPOPBR-60-T COSM5963709 c.454G>T p.D152Y Substitution - Missense 1:205103925-205103925 - S00936 COSM314702 c.1077G>T p.K359N Substitution - Missense 1:205099008-205099008 - Pat_24_A COSM5845223 c.623G>A p.R208Q Substitution - Missense 1:205101609-205101609 - CSCC-60-T COSM4499038 c.532C>T p.L178L Substitution - coding silent 1:205101700-205101700 - TCGA-K7-A5RG-01 COSM4930149 c.1249G>A p.G417S Substitution - Missense 1:205096829-205096829 - 2492722 COSM5719460 c.736C>T p.Q246* Substitution - Nonsense 1:205100168-205100168 - 255 COSM3732002 c.931G>T p.A311S Substitution - Missense 1:205099788-205099788 - LUAD-NYU284 COSM372577 c.9C>G p.L3L Substitution - coding silent 1:205121865-205121865 - PCSI_0057_Pa_X COSM3376943 c.1437C>G p.S479S Substitution - coding silent 1:205095024-205095024 - PT35 COSM5911491 c.1167T>A p.S389R Substitution - Missense 1:205096911-205096911 - LUAD-B01811 COSM334239 c.695C>A p.T232K Substitution - Missense 1:205100209-205100209 - 8015745 COSM218368 c.814C>T p.R272W Substitution - Missense 1:205100003-205100003 - PR-04-639 COSM246963 c.668G>C p.R223T Substitution - Missense 1:205100236-205100236 - T3024 COSM4720574 c.1096+2T>C p.? Unknown 1:205098987-205098987 - TCGA-AO-A1KP-01 COSM1473301 c.503C>T p.T168M Substitution - Missense 1:205103876-205103876 - STC232 COSM5052994 c.659G>A p.R220Q Substitution - Missense 1:205100245-205100245 - ccRCC-19 COSM1663845 c.487G>A p.G163R Substitution - Missense 1:205103892-205103892 - TCGA-DD-A11C-01 COSM4925780 c.92C>T p.T31I Substitution - Missense 1:205114915-205114915 - TCGA-GC-A3OO-01 COSM3789377 c.871C>T p.H291Y Substitution - Missense 1:205099946-205099946 - OSCC-GB_01390111 COSM5954517 c.1490C>G p.S497C Substitution - Missense 1:205094971-205094971 - ICGC_0045 COSM218368 c.814C>T p.R272W Substitution - Missense 1:205100003-205100003 - YUNIBO COSM5379350 c.251C>T p.A84V Substitution - Missense 1:205105136-205105136 - PD6047a COSM5801953 c.4_7delAACC p.N2fs*26 Deletion - Frameshift 1:205121867-205121870 - 631064 COSM326330 c.1541G>T p.G514V Substitution - Missense 1:205094920-205094920 - HN_62672 COSM125778 c.222G>T p.W74C Substitution - Missense 1:205105165-205105165 - BICR_22 COSM2214930 c.1243C>A p.P415T Substitution - Missense 1:205096835-205096835 - TCGA-FW-A3R5-06 COSM3864235 c.919C>T p.R307* Substitution - Nonsense 1:205099800-205099800 - TCGA-A8-A09Z-01 COSM1663845 c.487G>A p.G163R Substitution - Missense 1:205103892-205103892 - TCGA-18-3410-01 COSM677962 c.1509C>G p.L503L Substitution - coding silent 1:205094952-205094952 - PCSI_0052_Pa_X COSM3376943 c.1437C>G p.S479S Substitution - coding silent 1:205095024-205095024 - CDGLIV0504A0086_T COSM5040427 c.219-2A>T p.? Unknown 1:205105170-205105170 - NCI-H2009 COSM22860 c.1513delA p.D507fs*22 Deletion - Frameshift 1:205094948-205094948 - ASHPC_0005_Pa_P_1 COSM3785126 c.167G>A p.R56K Substitution - Missense 1:205114840-205114840 - 4537_T COSM3976887 c.1313G>T p.R438M Substitution - Missense 1:205096765-205096765 - CHC1601T COSM4805149 c.925A>G p.I309V Substitution - Missense 1:205099794-205099794 - 435 COSM458300 c.219-3C>T p.? Unknown 1:205105171-205105171 - CRC-31T COSM5457803 c.219-1G>C p.? Unknown 1:205105169-205105169 - TCGA-AM-5820-01 COSM3689304 c.483G>A p.R161R Substitution - coding silent 1:205103896-205103896 - TCGA-EJ-5515-01 COSM1470134 c.511G>A p.A171T Substitution - Missense 1:205103868-205103868 - 8016470 COSM3385666 c.1166+7C>T p.? Unknown 1:205097319-205097319 - PD6047a COSM5788569 c.3G>T p.M1I Substitution - Missense 1:205121871-205121871 - S00947 COSM314703 c.682A>T p.R228* Substitution - Nonsense 1:205100222-205100222 - TCGA-06-0213-01 COSM2150850 c.1258C>T p.P420S Substitution - Missense 1:205096820-205096820 - ZZUFHECRKL-G038T COSM5442418 c.1286A>G p.D429G Substitution - Missense 1:205096792-205096792 - LUAD-NYU669 COSM375536 c.674A>T p.Y225F Substitution - Missense 1:205100230-205100230 - 8066437 COSM2214936 c.753-7C>T p.? Unknown 1:205100071-205100071 - PCSI_0350_Pa_P_526 COSM3785126 c.167G>A p.R56K Substitution - Missense 1:205114840-205114840 - TCGA-CJ-5679-01 COSM463806 c.904G>A p.A302T Substitution - Missense 1:205099913-205099913 - TCGA-BS-A0UV-01 COSM902723 c.1012G>T p.E338* Substitution - Nonsense 1:205099073-205099073 - TCGA-B5-A11E-01 COSM902725 c.373G>A p.V125M Substitution - Missense 1:205104006-205104006 - CSCC-15-T COSM4487431 c.318C>T p.F106F Substitution - coding silent 1:205105069-205105069 - ICC001T COSM5807297 c.910C>T p.H304Y Substitution - Missense 1:205099809-205099809 - TCGA-AP-A059-01 COSM902722 c.1450G>T p.A484S Substitution - Missense 1:205095011-205095011 - CSCC-27-T COSM4480665 c.243C>T p.L81L Substitution - coding silent 1:205105144-205105144 - 2492723 COSM5719460 c.736C>T p.Q246* Substitution - Nonsense 1:205100168-205100168 - 9227_T COSM5042936 c.745G>A p.V249M Substitution - Missense 1:205100159-205100159 - I2L-P7-Tumor-Organoid COSM1639693 c.219-7delT p.? Unknown 1:205105175-205105175 - TCGA-FS-A1Z3-06 COSM3482142 c.1215C>T p.A405A Substitution - coding silent 1:205096863-205096863 - CHC1601T COSM4805149 c.925A>G p.I309V Substitution - Missense 1:205099794-205099794 - TCGA-AA-A010-01 COSM284493 c.1240A>C p.N414H Substitution - Missense 1:205096838-205096838 - TCGA-AN-A0AM-01 COSM425094 c.761G>A p.W254* Substitution - Nonsense 1:205100056-205100056 - TCGA-AZ-4315-01 COSM1338151 c.140G>A p.R47Q Substitution - Missense 1:205114867-205114867 - TCGA-18-3409-01 COSM677961 c.927C>T p.I309I Substitution - coding silent 1:205099792-205099792 - T3503 COSM4720574 c.1096+2T>C p.? Unknown 1:205098987-205098987 - TCGA-FD-A3SS-01 COSM3789378 c.553C>G p.L185V Substitution - Missense 1:205101679-205101679 - YUKAT COSM5379348 c.1084C>T p.P362S Substitution - Missense 1:205099001-205099001 - LUAD-S00486 COSM343275 c.389C>G p.S130C Substitution - Missense 1:205103990-205103990 - S00947 COSM314703 c.682A>T p.R228* Substitution - Nonsense 1:205100222-205100222 - CSCC-7-T COSM4451292 c.1147A>T p.I383F Substitution - Missense 1:205097345-205097345 - CACO2 COSM2214921 c.1567G>T p.E523* Substitution - Nonsense 1:205094894-205094894 - LUAD-RT-S01702 COSM378905 c.879G>A p.T293T Substitution - coding silent 1:205099938-205099938 - TCGA-EE-A2MR-06 COSM3482141 c.1254C>T p.P418P Substitution - coding silent 1:205096824-205096824 - 2492720 COSM5719460 c.736C>T p.Q246* Substitution - Nonsense 1:205100168-205100168 - CSCC-49-T COSM4565684 c.23_24CC>TT p.S8F Substitution - Missense 1:205115879-205115880 - TCGA-B0-5119-01 COSM463807 c.758C>A p.P253Q Substitution - Missense 1:205100059-205100059 - PCSI_0083_Pa_P_526 COSM2214941 c.510C>T p.N170N Substitution - coding silent 1:205103869-205103869 - HCC5 COSM3705428 c.914C>G p.P305R Substitution - Missense 1:205099805-205099805 - T3658 COSM4720573 c.1506A>T p.K502N Substitution - Missense 1:205094955-205094955 - TCGA-EE-A29M-06 COSM3482143 c.941C>T p.S314F Substitution - Missense 1:205099778-205099778 - TCGA-CG-5721-01 COSM4027383 c.220T>C p.W74R Substitution - Missense 1:205105167-205105167 - OSCC-GB_00150111 COSM3710526 c.353G>A p.R118Q Substitution - Missense 1:205105034-205105034 - CSCC-27-T COSM4487109 c.313C>T p.R105* Substitution - Nonsense 1:205105074-205105074 - HCC5T COSM3705428 c.914C>G p.P305R Substitution - Missense 1:205099805-205099805 - CSCC-31-T COSM4466489 c.1437C>T p.S479S Substitution - coding silent 1:205095024-205095024 - CSCC-20-T COSM4521972 c.1138G>A p.V380M Substitution - Missense 1:205097354-205097354 - 1432-01-04TD COSM5417404 c.986G>T p.W329L Substitution - Missense 1:205099099-205099099 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.519223;Hs.519225;Hs.519230 1q32 600697 2459530|dbSNP|BC037284|C/T|non-coding||3997|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - IntronicDeletion . c.219-7delT 1 205074303 STAD ATCTTC - InFrameDeletion p.E357_D358delED c.1069_1074delGAAGAT 1 205068139 PRAD C A IntronicSNV . c.218+1130G>T 1 205082787 CLL C A Missense p.G514V c.1541G>T 1 205064048 SCLC C A Missense p.K359N c.1077G>T 1 205068136 SCLC C A Missense p.W74C c.222G>T 1 205074293 HNSC C A Nonsense p.E435* c.1303G>T 1 205065903 LUAD C G Missense p.A369P c.1105G>C 1 205066515 SCLC C G Missense p.L21F c.63G>C 1 205084072 RCCC C T 5-UTRSNV . c.1-1G>A 1 205091002 CM C T Missense p.A171T c.511G>A 1 205072996 PRAD C T Nonsense p.W254* c.761G>A 1 205069184 BRCA G A Missense p.H291Y c.871C>T 1 205069074 CM G A Missense p.P415S c.1243C>T 1 205065963 CM G A Missense p.P420S c.1258C>T 1 205065948 GBM G A Missense p.R272W c.814C>T 1 205069131 PAAD G A Missense p.S314F c.941C>T 1 205068906 CM G A Missense p.S441L c.1322C>T 1 205065884 GBM G A Missense p.T168M c.503C>T 1 205073004 BRCA G A Synonymous p.A405A c.1215C>T 1 205065991 CM G C Synonymous p.L503L c.1509C>G 1 205064080 LUSC GG AA Missense p.P418L c.1253_1254delinsTT 1 205065952 CM G T 3-UTRSNV . c.1614+390C>A 1 205057528 HC G T Missense p.P253Q c.758C>A 1 205069187 RCCC G T Synonymous p.R208R c.622C>A 1 205070738 LUAD T A Nonsense p.R228* c.682A>T 1 205069350 SCLC T C Missense p.E15G c.44A>G 1 205084987 RCCC