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 2 172330394 172330394 + Nonsense_Mutation SNP G G T TCGA-OR-A5JA-01A-11D-A29I-10 TCGA-OR-A5JA-10A-01D-A29L-10 g.chr2:172330394G>T c.1000G>T c.(1000-1002)Gaa>Taa p.E334* BLCA 2 172291691 172291691 + Silent SNP C C T TCGA-HQ-A5NE-01A-12D-A289-08 TCGA-HQ-A5NE-10A-01D-A289-08 g.chr2:172291691C>T c.225C>T c.(223-225)gtC>gtT p.V75V BLCA 2 172305263 172305263 + Missense_Mutation SNP C C T TCGA-4Z-AA7R-01A-11D-A391-08 TCGA-4Z-AA7R-10A-01D-A394-08 g.chr2:172305263C>T c.394C>T c.(394-396)Cgt>Tgt p.R132C BLCA 2 172305301 172305301 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 g.chr2:172305301A>G c.432A>G c.(430-432)atA>atG p.I144M BLCA 2 172306414 172306414 + Nonsense_Mutation SNP G G T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr2:172306414G>T c.484G>T c.(484-486)Gaa>Taa p.E162* BLCA 2 172314900 172314900 + Missense_Mutation SNP G G C TCGA-DK-AA74-01A-11D-A391-08 TCGA-DK-AA74-10A-01D-A394-08 g.chr2:172314900G>C c.751G>C c.(751-753)Gac>Cac p.D251H BLCA 2 172334511 172334511 + Silent SNP C C G TCGA-4Z-AA7R-01A-11D-A391-08 TCGA-4Z-AA7R-10A-01D-A394-08 g.chr2:172334511C>G c.1197C>G c.(1195-1197)ctC>ctG p.L399L BLCA 2 172336557 172336557 + Missense_Mutation SNP A A G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 g.chr2:172336557A>G c.1276A>G c.(1276-1278)Att>Gtt p.I426V BRCA 2 172291597 172291597 + Missense_Mutation SNP G G A TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 g.chr2:172291597G>A c.131G>A c.(130-132)aGt>aAt p.S44N BRCA 2 172300067 172300067 + Missense_Mutation SNP C C G TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 g.chr2:172300067C>G c.265C>G c.(265-267)Cca>Gca p.P89A BRCA 2 172325520 172325520 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr2:172325520G>A c.961G>A c.(961-963)Gcc>Acc p.A321T BRCA 2 172336674 172336674 + Missense_Mutation SNP A A C TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 g.chr2:172336674A>C c.1393A>C c.(1393-1395)Agc>Cgc p.S465R CESC 2 172309709 172309709 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 g.chr2:172309709G>C c.613G>C c.(613-615)Gag>Cag p.E205Q COAD 2 172291686 172291686 + Missense_Mutation SNP T T C TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr2:172291686T>C c.220T>C c.(220-222)Tgt>Cgt p.C74R COAD 2 172300067 172300067 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr2:172300067C>T c.265C>T c.(265-267)Cca>Tca p.P89S COAD 2 172305324 172305324 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:172305324T>G c.455T>G c.(454-456)tTc>tGc p.F152C COAD 2 172314493 172314493 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr2:172314493G>A c.640G>A c.(640-642)Gtt>Att p.V214I COAD 2 172333428 172333428 + Missense_Mutation SNP T T G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr2:172333428T>G c.1150T>G c.(1150-1152)Ttt>Gtt p.F384V COADREAD 2 172291686 172291686 + Missense_Mutation SNP T T C TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr2:172291686T>C c.220T>C c.(220-222)Tgt>Cgt p.C74R COADREAD 2 172300067 172300067 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr2:172300067C>T c.265C>T c.(265-267)Cca>Tca p.P89S COADREAD 2 172305324 172305324 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:172305324T>G c.455T>G c.(454-456)tTc>tGc p.F152C COADREAD 2 172314493 172314493 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr2:172314493G>A c.640G>A c.(640-642)Gtt>Att p.V214I COADREAD 2 172333405 172333405 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:172333405C>A c.1127C>A c.(1126-1128)tCt>tAt p.S376Y COADREAD 2 172333428 172333428 + Missense_Mutation SNP T T G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr2:172333428T>G c.1150T>G c.(1150-1152)Ttt>Gtt p.F384V ESCA 2 172305295 172305296 + Nonsense_Mutation DNP GA GA TT TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 g.chr2:172305295_172305296GA>TT c.426_427GA>TT c.(424-429)gaGAaa>gaTTaa p.142_143EK>D* ESCA 2 172336638 172336638 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 g.chr2:172336638G>C c.1357G>C c.(1357-1359)Gat>Cat p.D453H GBMLGG 2 172337525 172337525 + Silent SNP A A C TCGA-HT-7616-01A-11D-2253-08 TCGA-HT-7616-10A-01D-2253-08 g.chr2:172337525A>C c.1464A>C c.(1462-1464)ctA>ctC p.L488L HNSC 2 172305291 172305291 + Missense_Mutation SNP T T C TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 g.chr2:172305291T>C c.422T>C c.(421-423)cTt>cCt p.L141P HNSC 2 172309702 172309702 + Silent SNP G G T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 g.chr2:172309702G>T c.606G>T c.(604-606)ggG>ggT p.G202G HNSC 2 172309702 172309702 + Silent SNP G G T TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 g.chr2:172309702G>T c.606G>T c.(604-606)ggG>ggT p.G202G HNSC 2 172314572 172314572 + Missense_Mutation SNP C C A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 g.chr2:172314572C>A c.719C>A c.(718-720)aCc>aAc p.T240N KIPAN 2 172291646 172291646 + Silent SNP C C G TCGA-CZ-5451-01A-01D-1501-10 TCGA-CZ-5451-11A-01D-1501-10 g.chr2:172291646C>G c.180C>G c.(178-180)gcC>gcG p.A60A KIPAN 2 172300079 172300079 + Missense_Mutation SNP A A C TCGA-B4-5836-01A-11D-1669-08 TCGA-B4-5836-10A-01D-1669-08 g.chr2:172300079A>C c.277A>C c.(277-279)Aaa>Caa p.K93Q KIPAN 2 172333421 172333421 + Silent SNP T T A TCGA-PJ-A5Z8-01A-11D-A28G-10 TCGA-PJ-A5Z8-10A-01D-A28G-10 g.chr2:172333421T>A c.1143T>A c.(1141-1143)tcT>tcA p.S381S KIRC 2 172291646 172291646 + Silent SNP C C G TCGA-CZ-5451-01A-01D-1501-10 TCGA-CZ-5451-11A-01D-1501-10 g.chr2:172291646C>G c.180C>G c.(178-180)gcC>gcG p.A60A KIRC 2 172300079 172300079 + Missense_Mutation SNP A A C TCGA-B4-5836-01A-11D-1669-08 TCGA-B4-5836-10A-01D-1669-08 g.chr2:172300079A>C c.277A>C c.(277-279)Aaa>Caa p.K93Q KIRP 2 172333421 172333421 + Silent SNP T T A TCGA-PJ-A5Z8-01A-11D-A28G-10 TCGA-PJ-A5Z8-10A-01D-A28G-10 g.chr2:172333421T>A c.1143T>A c.(1141-1143)tcT>tcA p.S381S LGG 2 172337525 172337525 + Silent SNP A A C TCGA-HT-7616-01A-11D-2253-08 TCGA-HT-7616-10A-01D-2253-08 g.chr2:172337525A>C c.1464A>C c.(1462-1464)ctA>ctC p.L488L LIHC 2 172300031 172300031 + Splice_Site SNP A A T TCGA-DD-AAC8-01A-11D-A40R-10 TCGA-DD-AAC8-10A-01D-A40U-10 g.chr2:172300031A>T c.e3-1 LUAD 2 172309638 172309638 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr2:172309638G>C c.542G>C c.(541-543)gGc>gCc p.G181A LUAD 2 172309702 172309702 + Silent SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 g.chr2:172309702G>T c.606G>T c.(604-606)ggG>ggT p.G202G LUAD 2 172334560 172334560 + Missense_Mutation SNP G G T TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr2:172334560G>T c.1246G>T c.(1246-1248)Gat>Tat p.D416Y LUAD 2 172337513 172337513 + Silent SNP A A G TCGA-50-6594-01A-11D-1753-08 TCGA-50-6594-11A-01D-1753-08 g.chr2:172337513A>G c.1452A>G c.(1450-1452)agA>agG p.R484R LUSC 2 172305295 172305295 + Missense_Mutation SNP G G T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 g.chr2:172305295G>T c.426G>T c.(424-426)gaG>gaT p.E142D LUSC 2 172309682 172309682 + Missense_Mutation SNP C C G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 g.chr2:172309682C>G c.586C>G c.(586-588)Cta>Gta p.L196V PCPG 2 172306405 172306405 + Missense_Mutation SNP A A T TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 g.chr2:172306405A>T c.475A>T c.(475-477)Act>Tct p.T159S READ 2 172333405 172333405 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:172333405C>A c.1127C>A c.(1126-1128)tCt>tAt p.S376Y SARC 2 172325408 172325409 + Frame_Shift_Ins INS - - T TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 g.chr2:172325408_172325409insT c.849_850insT c.(850-852)ctgfs p.L284fs SKCM 2 172305290 172305290 + Missense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr2:172305290C>T c.421C>T c.(421-423)Ctt>Ttt p.L141F SKCM 2 172306462 172306462 + Missense_Mutation SNP C C T TCGA-FS-A1ZC-06A-11D-A197-08 TCGA-FS-A1ZC-10A-01D-A199-08 g.chr2:172306462C>T c.532C>T c.(532-534)Cgg>Tgg p.R178W SKCM 2 172333454 172333454 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr2:172333454C>T c.1176C>T c.(1174-1176)aaC>aaT p.N392N

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 2 172305177 172305177 single base substitution C T intron_variant BLCA-CN 2 172305177 172305177 single base substitution C T upstream_gene_variant BLCA-US 2 172305301 172305301 single base substitution A G 3_prime_UTR_variant BLCA-US 2 172305301 172305301 single base substitution A G exon_variant BLCA-US 2 172305301 172305301 single base substitution A G missense_variant I144M 432A>G BLCA-US 2 172305301 172305301 single base substitution A G upstream_gene_variant BRCA-EU 2 172285985 172285985 single base substitution G T upstream_gene_variant BRCA-EU 2 172288161 172288161 single base substitution A T upstream_gene_variant BRCA-EU 2 172288735 172288735 single base substitution T G upstream_gene_variant BRCA-EU 2 172289546 172289546 single base substitution C G upstream_gene_variant BRCA-EU 2 172290560 172290560 single base substitution G C upstream_gene_variant BRCA-EU 2 172291126 172291126 single base substitution G A intron_variant BRCA-EU 2 172291126 172291126 single base substitution G A synonymous_variant L13L 39G>A BRCA-EU 2 172291126 172291126 single base substitution G A upstream_gene_variant BRCA-EU 2 172291654 172291654 single base substitution G T exon_variant BRCA-EU 2 172291654 172291654 single base substitution G T intron_variant BRCA-EU 2 172291654 172291654 single base substitution G T missense_variant R63I 188G>T BRCA-EU 2 172292830 172292832 deletion of <=200bp CTC - intron_variant BRCA-EU 2 172293346 172293346 single base substitution G A intron_variant BRCA-EU 2 172294418 172294418 single base substitution A T intron_variant BRCA-EU 2 172295257 172295257 single base substitution C T intron_variant BRCA-EU 2 172295257 172295257 single base substitution C T upstream_gene_variant BRCA-EU 2 172295413 172295413 deletion of <=200bp T - intron_variant BRCA-EU 2 172295413 172295413 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 172295426 172295426 single base substitution A T intron_variant BRCA-EU 2 172295426 172295426 single base substitution A T upstream_gene_variant BRCA-EU 2 172296258 172296258 single base substitution C T intron_variant BRCA-EU 2 172296258 172296258 single base substitution C T upstream_gene_variant BRCA-EU 2 172297180 172297180 single base substitution G C intron_variant BRCA-EU 2 172297180 172297180 single base substitution G C upstream_gene_variant BRCA-EU 2 172298838 172298838 single base substitution G A intron_variant BRCA-EU 2 172298838 172298838 single base substitution G A upstream_gene_variant BRCA-EU 2 172299291 172299291 single base substitution G A intron_variant BRCA-EU 2 172299291 172299291 single base substitution G A upstream_gene_variant BRCA-EU 2 172299385 172299385 insertion of <=200bp - A intron_variant BRCA-EU 2 172299385 172299385 insertion of <=200bp - A upstream_gene_variant BRCA-EU 2 172300805 172300805 single base substitution G C intron_variant BRCA-EU 2 172301371 172301371 single base substitution C G intron_variant BRCA-EU 2 172302458 172302458 single base substitution G A intron_variant BRCA-EU 2 172302961 172302961 single base substitution C T intron_variant BRCA-EU 2 172304651 172304651 deletion of <=200bp T - intron_variant BRCA-EU 2 172304651 172304651 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 172304740 172304740 single base substitution C G intron_variant BRCA-EU 2 172304740 172304740 single base substitution C G upstream_gene_variant BRCA-EU 2 172306916 172306916 single base substitution T A downstream_gene_variant BRCA-EU 2 172306916 172306916 single base substitution T A intron_variant BRCA-EU 2 172306916 172306916 single base substitution T A upstream_gene_variant BRCA-EU 2 172307907 172307907 single base substitution C G downstream_gene_variant BRCA-EU 2 172307907 172307907 single base substitution C G intron_variant BRCA-EU 2 172307907 172307907 single base substitution C G upstream_gene_variant BRCA-EU 2 172308530 172308530 single base substitution A G downstream_gene_variant BRCA-EU 2 172308530 172308530 single base substitution A G intron_variant BRCA-EU 2 172308530 172308530 single base substitution A G upstream_gene_variant BRCA-EU 2 172309884 172309884 single base substitution C A downstream_gene_variant BRCA-EU 2 172309884 172309884 single base substitution C A intron_variant BRCA-EU 2 172311136 172311136 single base substitution G T downstream_gene_variant BRCA-EU 2 172311136 172311136 single base substitution G T intron_variant BRCA-EU 2 172314307 172314307 single base substitution C T intron_variant BRCA-EU 2 172314480 172314480 single base substitution G C intron_variant BRCA-EU 2 172314480 172314480 single base substitution G C splice_acceptor_variant BRCA-EU 2 172314514 172314514 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 172314514 172314514 single base substitution C T exon_variant BRCA-EU 2 172314514 172314514 single base substitution C T intron_variant BRCA-EU 2 172314514 172314514 single base substitution C T missense_variant H221Y 661C>T BRCA-EU 2 172315553 172315553 single base substitution C T downstream_gene_variant BRCA-EU 2 172315553 172315553 single base substitution C T intron_variant BRCA-EU 2 172315604 172315604 single base substitution G C downstream_gene_variant BRCA-EU 2 172315604 172315604 single base substitution G C intron_variant BRCA-EU 2 172316074 172316074 single base substitution A G downstream_gene_variant BRCA-EU 2 172316074 172316074 single base substitution A G intron_variant BRCA-EU 2 172316116 172316116 single base substitution A G downstream_gene_variant BRCA-EU 2 172316116 172316116 single base substitution A G intron_variant BRCA-EU 2 172316601 172316601 single base substitution G A downstream_gene_variant BRCA-EU 2 172316601 172316601 single base substitution G A intron_variant BRCA-EU 2 172317004 172317004 single base substitution T C downstream_gene_variant BRCA-EU 2 172317004 172317004 single base substitution T C intron_variant BRCA-EU 2 172317426 172317426 single base substitution G A downstream_gene_variant BRCA-EU 2 172317426 172317426 single base substitution G A intron_variant BRCA-EU 2 172317864 172317864 single base substitution G T downstream_gene_variant BRCA-EU 2 172317864 172317864 single base substitution G T intron_variant BRCA-EU 2 172318045 172318045 single base substitution G C downstream_gene_variant BRCA-EU 2 172318045 172318045 single base substitution G C intron_variant BRCA-EU 2 172318688 172318688 single base substitution A C downstream_gene_variant BRCA-EU 2 172318688 172318688 single base substitution A C intron_variant BRCA-EU 2 172319294 172319294 single base substitution T G downstream_gene_variant BRCA-EU 2 172319294 172319294 single base substitution T G intron_variant BRCA-EU 2 172319600 172319600 single base substitution G T intron_variant BRCA-EU 2 172320305 172320305 single base substitution A T intron_variant BRCA-EU 2 172321695 172321695 single base substitution G A intron_variant BRCA-EU 2 172321695 172321695 single base substitution G A upstream_gene_variant BRCA-EU 2 172322491 172322491 single base substitution C T intron_variant BRCA-EU 2 172322491 172322491 single base substitution C T upstream_gene_variant BRCA-EU 2 172322691 172322691 single base substitution A G intron_variant BRCA-EU 2 172322691 172322691 single base substitution A G upstream_gene_variant BRCA-EU 2 172322748 172322748 single base substitution G A intron_variant BRCA-EU 2 172322748 172322748 single base substitution G A upstream_gene_variant BRCA-EU 2 172322833 172322833 deletion of <=200bp T - intron_variant BRCA-EU 2 172322833 172322833 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 172325995 172325995 single base substitution G T intron_variant BRCA-EU 2 172325995 172325995 single base substitution G T upstream_gene_variant BRCA-EU 2 172328271 172328271 single base substitution T C intron_variant BRCA-EU 2 172328271 172328271 single base substitution T C upstream_gene_variant BRCA-EU 2 172332636 172332636 single base substitution C T downstream_gene_variant BRCA-EU 2 172332636 172332636 single base substitution C T intron_variant BRCA-EU 2 172332636 172332636 single base substitution C T upstream_gene_variant BRCA-EU 2 172334817 172334817 single base substitution G T downstream_gene_variant BRCA-EU 2 172334817 172334817 single base substitution G T intron_variant BRCA-EU 2 172334817 172334817 single base substitution G T upstream_gene_variant BRCA-EU 2 172335805 172335805 single base substitution A G downstream_gene_variant BRCA-EU 2 172335805 172335805 single base substitution A G intron_variant BRCA-EU 2 172335805 172335805 single base substitution A G upstream_gene_variant BRCA-EU 2 172340575 172340575 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 172340575 172340575 single base substitution G A downstream_gene_variant BRCA-EU 2 172340740 172340740 single base substitution C A 3_prime_UTR_variant BRCA-EU 2 172340740 172340740 single base substitution C A downstream_gene_variant BRCA-EU 2 172343988 172343988 single base substitution C T downstream_gene_variant BRCA-EU 2 172344751 172344751 single base substitution G T downstream_gene_variant BRCA-EU 2 172344787 172344787 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 172344813 172344813 single base substitution G A downstream_gene_variant BRCA-FR 2 172288161 172288161 single base substitution A T upstream_gene_variant BRCA-FR 2 172288162 172288162 single base substitution G A upstream_gene_variant BRCA-FR 2 172290560 172290560 single base substitution G C upstream_gene_variant BRCA-FR 2 172314480 172314480 single base substitution G C intron_variant BRCA-FR 2 172314480 172314480 single base substitution G C splice_acceptor_variant BRCA-FR 2 172315553 172315553 single base substitution C T downstream_gene_variant BRCA-FR 2 172315553 172315553 single base substitution C T intron_variant BRCA-FR 2 172317426 172317426 single base substitution G A downstream_gene_variant BRCA-FR 2 172317426 172317426 single base substitution G A intron_variant BRCA-FR 2 172318045 172318045 single base substitution G C downstream_gene_variant BRCA-FR 2 172318045 172318045 single base substitution G C intron_variant BRCA-FR 2 172322691 172322691 single base substitution A G intron_variant BRCA-FR 2 172322691 172322691 single base substitution A G upstream_gene_variant BRCA-FR 2 172338141 172338141 single base substitution T C 3_prime_UTR_variant BRCA-FR 2 172338141 172338141 single base substitution T C downstream_gene_variant BRCA-FR 2 172338141 172338141 single base substitution T C exon_variant BRCA-FR 2 172340575 172340575 single base substitution G A 3_prime_UTR_variant BRCA-FR 2 172340575 172340575 single base substitution G A downstream_gene_variant BRCA-FR 2 172344751 172344751 single base substitution G T downstream_gene_variant BRCA-UK 2 172285985 172285985 single base substitution G T upstream_gene_variant BRCA-UK 2 172312211 172312211 single base substitution C G intron_variant BRCA-UK 2 172326484 172326484 single base substitution G A intron_variant BRCA-UK 2 172326484 172326484 single base substitution G A upstream_gene_variant BRCA-US 2 172291597 172291597 single base substitution G A exon_variant BRCA-US 2 172291597 172291597 single base substitution G A intron_variant BRCA-US 2 172291597 172291597 single base substitution G A missense_variant S44N 131G>A BRCA-US 2 172300067 172300067 single base substitution C G exon_variant BRCA-US 2 172300067 172300067 single base substitution C G missense_variant P89A 265C>G BRCA-US 2 172325520 172325520 single base substitution G A exon_variant BRCA-US 2 172325520 172325520 single base substitution G A missense_variant A321T 961G>A BRCA-US 2 172325520 172325520 single base substitution G A missense_variant A71T 211G>A BRCA-US 2 172325520 172325520 single base substitution G A upstream_gene_variant BRCA-US 2 172336674 172336674 single base substitution A C exon_variant BRCA-US 2 172336674 172336674 single base substitution A C missense_variant S166R 496A>C BRCA-US 2 172336674 172336674 single base substitution A C missense_variant S215R 643A>C BRCA-US 2 172336674 172336674 single base substitution A C missense_variant S398R 1192A>C BRCA-US 2 172336674 172336674 single base substitution A C missense_variant S465R 1393A>C BTCA-JP 2 172291130 172291130 single base substitution C T intron_variant BTCA-JP 2 172291130 172291130 single base substitution C T missense_variant R15C 43C>T BTCA-JP 2 172291130 172291130 single base substitution C T upstream_gene_variant BTCA-JP 2 172314655 172314655 single base substitution T A downstream_gene_variant BTCA-JP 2 172314655 172314655 single base substitution T A intron_variant BTCA-JP 2 172314656 172314656 single base substitution A G downstream_gene_variant BTCA-JP 2 172314656 172314656 single base substitution A G intron_variant CESC-US 2 172309709 172309709 single base substitution G C 3_prime_UTR_variant CESC-US 2 172309709 172309709 single base substitution G C downstream_gene_variant CESC-US 2 172309709 172309709 single base substitution G C exon_variant CESC-US 2 172309709 172309709 single base substitution G C missense_variant E205Q 613G>C CESC-US 2 172309709 172309709 single base substitution G C missense_variant R25T 74G>C CLLE-ES 2 172286741 172286741 single base substitution G A upstream_gene_variant CLLE-ES 2 172290946 172290946 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant CLLE-ES 2 172290946 172290946 single base substitution C T intron_variant CLLE-ES 2 172290946 172290946 single base substitution C T upstream_gene_variant CLLE-ES 2 172291455 172291455 single base substitution A G exon_variant CLLE-ES 2 172291455 172291455 single base substitution A G intron_variant CLLE-ES 2 172296640 172296640 single base substitution A C intron_variant CLLE-ES 2 172296640 172296640 single base substitution A C upstream_gene_variant COAD-US 2 172291686 172291686 single base substitution T C exon_variant COAD-US 2 172291686 172291686 single base substitution T C intron_variant COAD-US 2 172291686 172291686 single base substitution T C missense_variant C74R 220T>C COAD-US 2 172314493 172314493 single base substitution G A 3_prime_UTR_variant COAD-US 2 172314493 172314493 single base substitution G A exon_variant COAD-US 2 172314493 172314493 single base substitution G A intron_variant COAD-US 2 172314493 172314493 single base substitution G A missense_variant V214I 640G>A COCA-CN 2 172309485 172309485 single base substitution C A downstream_gene_variant COCA-CN 2 172309485 172309485 single base substitution C A intron_variant COCA-CN 2 172309485 172309485 single base substitution C A upstream_gene_variant COCA-CN 2 172329337 172329337 single base substitution T C intron_variant COCA-CN 2 172329337 172329337 single base substitution T C upstream_gene_variant COCA-CN 2 172330359 172330359 single base substitution C T intron_variant ESAD-UK 2 172290971 172290971 single base substitution G A 5_prime_UTR_variant ESAD-UK 2 172290971 172290971 single base substitution G A intron_variant ESAD-UK 2 172290971 172290971 single base substitution G A upstream_gene_variant ESAD-UK 2 172292127 172292127 single base substitution A C intron_variant ESAD-UK 2 172293163 172293163 insertion of <=200bp - A intron_variant ESAD-UK 2 172294039 172294039 single base substitution A G intron_variant ESAD-UK 2 172294842 172294842 single base substitution C G intron_variant ESAD-UK 2 172294842 172294842 single base substitution C G upstream_gene_variant ESAD-UK 2 172295257 172295257 insertion of <=200bp - C intron_variant ESAD-UK 2 172295257 172295257 insertion of <=200bp - C upstream_gene_variant ESAD-UK 2 172295257 172295257 single base substitution C T intron_variant ESAD-UK 2 172295257 172295257 single base substitution C T upstream_gene_variant ESAD-UK 2 172295628 172295628 deletion of <=200bp T - intron_variant ESAD-UK 2 172295628 172295628 deletion of <=200bp T - upstream_gene_variant ESAD-UK 2 172298703 172298703 single base substitution G C intron_variant ESAD-UK 2 172298703 172298703 single base substitution G C upstream_gene_variant ESAD-UK 2 172300833 172300833 single base substitution G C intron_variant ESAD-UK 2 172302390 172302390 single base substitution G A intron_variant ESAD-UK 2 172302846 172302846 single base substitution G T intron_variant ESAD-UK 2 172303151 172303151 single base substitution A G intron_variant ESAD-UK 2 172303789 172303789 single base substitution A T intron_variant ESAD-UK 2 172304151 172304151 single base substitution C T intron_variant ESAD-UK 2 172304275 172304275 single base substitution G A intron_variant ESAD-UK 2 172306096 172306096 single base substitution T A intron_variant ESAD-UK 2 172306096 172306096 single base substitution T A upstream_gene_variant ESAD-UK 2 172307291 172307291 single base substitution G C downstream_gene_variant ESAD-UK 2 172307291 172307291 single base substitution G C intron_variant ESAD-UK 2 172307291 172307291 single base substitution G C upstream_gene_variant ESAD-UK 2 172310939 172310939 single base substitution C T downstream_gene_variant ESAD-UK 2 172310939 172310939 single base substitution C T intron_variant ESAD-UK 2 172313731 172313731 single base substitution G C intron_variant ESAD-UK 2 172314069 172314069 single base substitution A G intron_variant ESAD-UK 2 172314273 172314273 single base substitution G C intron_variant ESAD-UK 2 172317507 172317507 single base substitution G A downstream_gene_variant ESAD-UK 2 172317507 172317507 single base substitution G A intron_variant ESAD-UK 2 172318647 172318647 single base substitution T A downstream_gene_variant ESAD-UK 2 172318647 172318647 single base substitution T A intron_variant ESAD-UK 2 172319383 172319383 single base substitution G A downstream_gene_variant ESAD-UK 2 172319383 172319383 single base substitution G A intron_variant ESAD-UK 2 172321261 172321261 single base substitution C T intron_variant ESAD-UK 2 172321261 172321261 single base substitution C T upstream_gene_variant ESAD-UK 2 172321498 172321498 single base substitution G A intron_variant ESAD-UK 2 172321498 172321498 single base substitution G A upstream_gene_variant ESAD-UK 2 172323262 172323262 single base substitution A G intron_variant ESAD-UK 2 172323262 172323262 single base substitution A G upstream_gene_variant ESAD-UK 2 172323790 172323790 single base substitution G A intron_variant ESAD-UK 2 172323790 172323790 single base substitution G A upstream_gene_variant ESAD-UK 2 172326458 172326458 single base substitution G A intron_variant ESAD-UK 2 172326458 172326458 single base substitution G A upstream_gene_variant ESAD-UK 2 172331760 172331760 single base substitution G C downstream_gene_variant ESAD-UK 2 172331760 172331760 single base substitution G C intron_variant ESAD-UK 2 172331760 172331760 single base substitution G C upstream_gene_variant ESAD-UK 2 172333376 172333376 single base substitution G T downstream_gene_variant ESAD-UK 2 172333376 172333376 single base substitution G T exon_variant ESAD-UK 2 172333376 172333376 single base substitution G T intron_variant ESAD-UK 2 172333376 172333376 single base substitution G T missense_variant L116F 348G>T ESAD-UK 2 172333376 172333376 single base substitution G T missense_variant L366F 1098G>T ESAD-UK 2 172333376 172333376 single base substitution G T missense_variant L67F 201G>T ESAD-UK 2 172333376 172333376 single base substitution G T upstream_gene_variant ESAD-UK 2 172334359 172334359 single base substitution A C downstream_gene_variant ESAD-UK 2 172334359 172334359 single base substitution A C intron_variant ESAD-UK 2 172334359 172334359 single base substitution A C upstream_gene_variant ESAD-UK 2 172335909 172335909 single base substitution C A intron_variant ESAD-UK 2 172335909 172335909 single base substitution C A upstream_gene_variant ESAD-UK 2 172336433 172336433 single base substitution T C exon_variant ESAD-UK 2 172336433 172336433 single base substitution T C intron_variant ESAD-UK 2 172346030 172346030 single base substitution T G downstream_gene_variant ESAD-UK 2 172346230 172346230 single base substitution C T downstream_gene_variant ESCA-CN 2 172325433 172325433 single base substitution G A exon_variant ESCA-CN 2 172325433 172325433 single base substitution G A missense_variant E292K 874G>A ESCA-CN 2 172325433 172325433 single base substitution G A missense_variant E42K 124G>A ESCA-CN 2 172325433 172325433 single base substitution G A upstream_gene_variant ESCA-CN 2 172333436 172333436 single base substitution T G downstream_gene_variant ESCA-CN 2 172333436 172333436 single base substitution T G exon_variant ESCA-CN 2 172333436 172333436 single base substitution T G intron_variant ESCA-CN 2 172333436 172333436 single base substitution T G missense_variant I136M 408T>G ESCA-CN 2 172333436 172333436 single base substitution T G missense_variant I386M 1158T>G ESCA-CN 2 172333436 172333436 single base substitution T G missense_variant I87M 261T>G ESCA-CN 2 172333436 172333436 single base substitution T G upstream_gene_variant KIRC-US 2 172291646 172291646 single base substitution C G exon_variant KIRC-US 2 172291646 172291646 single base substitution C G intron_variant KIRC-US 2 172291646 172291646 single base substitution C G synonymous_variant A60A 180C>G KIRP-US 2 172333421 172333421 single base substitution T A downstream_gene_variant KIRP-US 2 172333421 172333421 single base substitution T A exon_variant KIRP-US 2 172333421 172333421 single base substitution T A intron_variant KIRP-US 2 172333421 172333421 single base substitution T A synonymous_variant S131S 393T>A KIRP-US 2 172333421 172333421 single base substitution T A synonymous_variant S381S 1143T>A KIRP-US 2 172333421 172333421 single base substitution T A synonymous_variant S82S 246T>A KIRP-US 2 172333421 172333421 single base substitution T A upstream_gene_variant LAML-KR 2 172299094 172299094 single base substitution G A intron_variant LAML-KR 2 172299094 172299094 single base substitution G A upstream_gene_variant LAML-KR 2 172301655 172301655 single base substitution G T intron_variant LGG-US 2 172337525 172337525 single base substitution A C exon_variant LGG-US 2 172337525 172337525 single base substitution A C synonymous_variant L189L 567A>C LGG-US 2 172337525 172337525 single base substitution A C synonymous_variant L238L 714A>C LGG-US 2 172337525 172337525 single base substitution A C synonymous_variant L421L 1263A>C LGG-US 2 172337525 172337525 single base substitution A C synonymous_variant L488L 1464A>C LICA-FR 2 172287739 172287739 single base substitution T G upstream_gene_variant LICA-FR 2 172304651 172304651 insertion of <=200bp - T intron_variant LICA-FR 2 172304651 172304651 insertion of <=200bp - T upstream_gene_variant LINC-JP 2 172301410 172301410 single base substitution C A intron_variant LINC-JP 2 172310785 172310785 single base substitution A G downstream_gene_variant LINC-JP 2 172310785 172310785 single base substitution A G intron_variant LINC-JP 2 172314655 172314655 single base substitution T A downstream_gene_variant LINC-JP 2 172314655 172314655 single base substitution T A intron_variant LINC-JP 2 172314656 172314656 single base substitution A G downstream_gene_variant LINC-JP 2 172314656 172314656 single base substitution A G intron_variant LINC-JP 2 172325221 172325221 single base substitution T G intron_variant LINC-JP 2 172325221 172325221 single base substitution T G upstream_gene_variant LINC-JP 2 172326804 172326804 deletion of <=200bp T - intron_variant LINC-JP 2 172326804 172326804 deletion of <=200bp T - upstream_gene_variant LINC-JP 2 172333604 172333604 single base substitution G T downstream_gene_variant LINC-JP 2 172333604 172333604 single base substitution G T intron_variant LINC-JP 2 172333604 172333604 single base substitution G T upstream_gene_variant LINC-JP 2 172342117 172342117 single base substitution A T downstream_gene_variant LINC-JP 2 172344966 172344966 single base substitution C G downstream_gene_variant LIRI-JP 2 172286960 172286960 single base substitution G A upstream_gene_variant LIRI-JP 2 172287565 172287565 single base substitution T A upstream_gene_variant LIRI-JP 2 172289046 172289046 single base substitution C T upstream_gene_variant LIRI-JP 2 172292601 172292601 single base substitution C A intron_variant LIRI-JP 2 172293435 172293435 single base substitution C G intron_variant LIRI-JP 2 172296929 172296929 single base substitution A G intron_variant LIRI-JP 2 172296929 172296929 single base substitution A G upstream_gene_variant LIRI-JP 2 172297313 172297313 single base substitution T G intron_variant LIRI-JP 2 172297313 172297313 single base substitution T G upstream_gene_variant LIRI-JP 2 172300559 172300559 single base substitution A G intron_variant LIRI-JP 2 172302664 172302664 single base substitution T C intron_variant LIRI-JP 2 172303366 172303366 single base substitution A G intron_variant LIRI-JP 2 172303842 172303842 single base substitution T G intron_variant LIRI-JP 2 172305849 172305849 single base substitution T C intron_variant LIRI-JP 2 172305849 172305849 single base substitution T C upstream_gene_variant LIRI-JP 2 172310310 172310310 single base substitution T G downstream_gene_variant LIRI-JP 2 172310310 172310310 single base substitution T G intron_variant LIRI-JP 2 172311410 172311410 single base substitution G T downstream_gene_variant LIRI-JP 2 172311410 172311410 single base substitution G T intron_variant LIRI-JP 2 172312029 172312029 single base substitution A T intron_variant LIRI-JP 2 172312065 172312065 single base substitution T A intron_variant LIRI-JP 2 172315393 172315393 single base substitution C T downstream_gene_variant LIRI-JP 2 172315393 172315393 single base substitution C T intron_variant LIRI-JP 2 172317302 172317302 single base substitution G T downstream_gene_variant LIRI-JP 2 172317302 172317302 single base substitution G T intron_variant LIRI-JP 2 172318828 172318828 single base substitution A G downstream_gene_variant LIRI-JP 2 172318828 172318828 single base substitution A G intron_variant LIRI-JP 2 172318872 172318872 single base substitution A G downstream_gene_variant LIRI-JP 2 172318872 172318872 single base substitution A G intron_variant LIRI-JP 2 172322530 172322530 single base substitution A G intron_variant LIRI-JP 2 172322530 172322530 single base substitution A G upstream_gene_variant LIRI-JP 2 172323104 172323104 single base substitution T A intron_variant LIRI-JP 2 172323104 172323104 single base substitution T A upstream_gene_variant LIRI-JP 2 172323107 172323107 single base substitution G T intron_variant LIRI-JP 2 172323107 172323107 single base substitution G T upstream_gene_variant LIRI-JP 2 172323365 172323365 single base substitution G C intron_variant LIRI-JP 2 172323365 172323365 single base substitution G C upstream_gene_variant LIRI-JP 2 172323408 172323411 deletion of <=200bp ATCA - intron_variant LIRI-JP 2 172323408 172323411 deletion of <=200bp ATCA - upstream_gene_variant LIRI-JP 2 172323664 172323664 single base substitution A G intron_variant LIRI-JP 2 172323664 172323664 single base substitution A G upstream_gene_variant LIRI-JP 2 172325747 172325747 single base substitution T G intron_variant LIRI-JP 2 172325747 172325747 single base substitution T G upstream_gene_variant LIRI-JP 2 172329081 172329081 single base substitution C A intron_variant LIRI-JP 2 172329081 172329081 single base substitution C A upstream_gene_variant LIRI-JP 2 172329383 172329387 deletion of <=200bp AAATT - frameshift_variant EI1 LIRI-JP 2 172329383 172329387 deletion of <=200bp AAATT - intron_variant LIRI-JP 2 172330054 172330054 single base substitution A G intron_variant LIRI-JP 2 172334335 172334335 single base substitution A T downstream_gene_variant LIRI-JP 2 172334335 172334335 single base substitution A T intron_variant LIRI-JP 2 172334335 172334335 single base substitution A T upstream_gene_variant LIRI-JP 2 172336662 172336662 single base substitution A G exon_variant LIRI-JP 2 172336662 172336662 single base substitution A G missense_variant T162A 484A>G LIRI-JP 2 172336662 172336662 single base substitution A G missense_variant T211A 631A>G LIRI-JP 2 172336662 172336662 single base substitution A G missense_variant T394A 1180A>G LIRI-JP 2 172336662 172336662 single base substitution A G missense_variant T461A 1381A>G LIRI-JP 2 172344057 172344057 single base substitution C G downstream_gene_variant LIRI-JP 2 172344153 172344153 single base substitution A C downstream_gene_variant LIRI-JP 2 172344202 172344202 single base substitution G T downstream_gene_variant LIRI-JP 2 172344205 172344205 single base substitution T G downstream_gene_variant LIRI-JP 2 172344224 172344224 single base substitution A C downstream_gene_variant LIRI-JP 2 172344238 172344238 single base substitution A C downstream_gene_variant LIRI-JP 2 172344252 172344252 single base substitution A G downstream_gene_variant LIRI-JP 2 172345418 172345418 single base substitution G T downstream_gene_variant LIRI-JP 2 172346320 172346320 single base substitution C A downstream_gene_variant LUSC-KR 2 172287648 172287648 single base substitution C T upstream_gene_variant LUSC-KR 2 172288364 172288364 single base substitution C A upstream_gene_variant LUSC-KR 2 172290650 172290650 single base substitution G C upstream_gene_variant LUSC-KR 2 172291326 172291326 single base substitution G A exon_variant LUSC-KR 2 172291326 172291326 single base substitution G A intron_variant LUSC-KR 2 172294437 172294437 single base substitution T A intron_variant LUSC-KR 2 172297121 172297121 single base substitution A T intron_variant LUSC-KR 2 172297121 172297121 single base substitution A T upstream_gene_variant LUSC-KR 2 172297268 172297268 single base substitution G T intron_variant LUSC-KR 2 172297268 172297268 single base substitution G T upstream_gene_variant LUSC-KR 2 172298760 172298760 single base substitution C T intron_variant LUSC-KR 2 172298760 172298760 single base substitution C T upstream_gene_variant LUSC-KR 2 172304835 172304835 single base substitution A G intron_variant LUSC-KR 2 172304835 172304835 single base substitution A G upstream_gene_variant LUSC-KR 2 172311500 172311500 single base substitution A T downstream_gene_variant LUSC-KR 2 172311500 172311500 single base substitution A T intron_variant LUSC-KR 2 172316854 172316854 single base substitution G T downstream_gene_variant LUSC-KR 2 172316854 172316854 single base substitution G T intron_variant LUSC-KR 2 172334690 172334690 single base substitution A T downstream_gene_variant LUSC-KR 2 172334690 172334690 single base substitution A T intron_variant LUSC-KR 2 172334690 172334690 single base substitution A T upstream_gene_variant LUSC-KR 2 172335443 172335443 single base substitution G C downstream_gene_variant LUSC-KR 2 172335443 172335443 single base substitution G C intron_variant LUSC-KR 2 172335443 172335443 single base substitution G C upstream_gene_variant LUSC-KR 2 172343939 172343939 single base substitution C G downstream_gene_variant LUSC-US 2 172305295 172305295 single base substitution G T 3_prime_UTR_variant LUSC-US 2 172305295 172305295 single base substitution G T exon_variant LUSC-US 2 172305295 172305295 single base substitution G T missense_variant E142D 426G>T LUSC-US 2 172305295 172305295 single base substitution G T upstream_gene_variant LUSC-US 2 172309682 172309682 single base substitution C G 3_prime_UTR_variant LUSC-US 2 172309682 172309682 single base substitution C G downstream_gene_variant LUSC-US 2 172309682 172309682 single base substitution C G exon_variant LUSC-US 2 172309682 172309682 single base substitution C G missense_variant L196V 586C>G LUSC-US 2 172309682 172309682 single base substitution C G missense_variant S16C 47C>G MALY-DE 2 172290869 172290869 single base substitution C T 5_prime_UTR_variant MALY-DE 2 172290869 172290869 single base substitution C T intron_variant MALY-DE 2 172290869 172290869 single base substitution C T upstream_gene_variant MALY-DE 2 172296845 172296845 single base substitution G T intron_variant MALY-DE 2 172296845 172296845 single base substitution G T upstream_gene_variant MALY-DE 2 172297467 172297467 single base substitution C T intron_variant MALY-DE 2 172297467 172297467 single base substitution C T upstream_gene_variant MALY-DE 2 172320630 172320630 single base substitution C T intron_variant MALY-DE 2 172320630 172320630 single base substitution C T upstream_gene_variant MALY-DE 2 172323233 172323233 single base substitution T C intron_variant MALY-DE 2 172323233 172323233 single base substitution T C upstream_gene_variant MALY-DE 2 172325803 172325803 single base substitution G A intron_variant MALY-DE 2 172325803 172325803 single base substitution G A upstream_gene_variant MALY-DE 2 172338949 172338949 single base substitution A G 3_prime_UTR_variant MALY-DE 2 172338949 172338949 single base substitution A G downstream_gene_variant MELA-AU 2 172285941 172285941 single base substitution G A upstream_gene_variant MELA-AU 2 172285975 172285975 single base substitution G A upstream_gene_variant MELA-AU 2 172286215 172286215 single base substitution A G upstream_gene_variant MELA-AU 2 172286280 172286280 single base substitution T C upstream_gene_variant MELA-AU 2 172286499 172286499 single base substitution G A upstream_gene_variant MELA-AU 2 172286677 172286677 single base substitution G T upstream_gene_variant MELA-AU 2 172286727 172286727 single base substitution G A upstream_gene_variant MELA-AU 2 172286728 172286728 single base substitution G A upstream_gene_variant MELA-AU 2 172286795 172286795 single base substitution G A upstream_gene_variant MELA-AU 2 172287213 172287213 single base substitution C T upstream_gene_variant MELA-AU 2 172287290 172287290 single base substitution G A upstream_gene_variant MELA-AU 2 172287626 172287626 single base substitution G A upstream_gene_variant MELA-AU 2 172287734 172287734 single base substitution G A upstream_gene_variant MELA-AU 2 172287775 172287775 single base substitution C T upstream_gene_variant MELA-AU 2 172288487 172288487 single base substitution G A upstream_gene_variant MELA-AU 2 172288798 172288798 single base substitution T A upstream_gene_variant MELA-AU 2 172288908 172288908 single base substitution C T upstream_gene_variant MELA-AU 2 172292642 172292642 single base substitution C T intron_variant MELA-AU 2 172293143 172293143 single base substitution A T intron_variant MELA-AU 2 172293222 172293222 single base substitution T C intron_variant MELA-AU 2 172294463 172294463 single base substitution G A intron_variant MELA-AU 2 172295610 172295610 single base substitution C T intron_variant MELA-AU 2 172295610 172295610 single base substitution C T upstream_gene_variant MELA-AU 2 172295825 172295825 single base substitution C T intron_variant MELA-AU 2 172295825 172295825 single base substitution C T upstream_gene_variant MELA-AU 2 172296235 172296235 single base substitution C T intron_variant MELA-AU 2 172296235 172296235 single base substitution C T upstream_gene_variant MELA-AU 2 172296445 172296445 single base substitution C T intron_variant MELA-AU 2 172296445 172296445 single base substitution C T upstream_gene_variant MELA-AU 2 172296834 172296835 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 172296834 172296835 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 172297327 172297327 single base substitution C T intron_variant MELA-AU 2 172297327 172297327 single base substitution C T upstream_gene_variant MELA-AU 2 172297397 172297397 single base substitution C T intron_variant MELA-AU 2 172297397 172297397 single base substitution C T upstream_gene_variant MELA-AU 2 172297661 172297661 single base substitution C T intron_variant MELA-AU 2 172297661 172297661 single base substitution C T upstream_gene_variant MELA-AU 2 172298044 172298044 single base substitution C T intron_variant MELA-AU 2 172298044 172298044 single base substitution C T upstream_gene_variant MELA-AU 2 172298864 172298864 single base substitution C T intron_variant MELA-AU 2 172298864 172298864 single base substitution C T upstream_gene_variant MELA-AU 2 172299962 172299962 single base substitution G A exon_variant MELA-AU 2 172299962 172299962 single base substitution G A intron_variant MELA-AU 2 172300105 172300105 single base substitution A T exon_variant MELA-AU 2 172300105 172300105 single base substitution A T missense_variant L101F 303A>T MELA-AU 2 172300178 172300178 single base substitution C T intron_variant MELA-AU 2 172300776 172300776 single base substitution C T intron_variant MELA-AU 2 172300777 172300777 single base substitution C T intron_variant MELA-AU 2 172301095 172301095 single base substitution C T intron_variant MELA-AU 2 172301117 172301117 single base substitution C T intron_variant MELA-AU 2 172301146 172301146 single base substitution C T intron_variant MELA-AU 2 172302508 172302508 single base substitution T C intron_variant MELA-AU 2 172302656 172302656 single base substitution G A intron_variant MELA-AU 2 172302740 172302740 single base substitution C T intron_variant MELA-AU 2 172303164 172303164 single base substitution C T intron_variant MELA-AU 2 172303500 172303500 single base substitution C T intron_variant MELA-AU 2 172304939 172304939 single base substitution T C intron_variant MELA-AU 2 172304939 172304939 single base substitution T C upstream_gene_variant MELA-AU 2 172305177 172305177 single base substitution C T intron_variant MELA-AU 2 172305177 172305177 single base substitution C T upstream_gene_variant MELA-AU 2 172305210 172305210 single base substitution C T exon_variant MELA-AU 2 172305210 172305210 single base substitution C T missense_variant S114L 341C>T MELA-AU 2 172305210 172305210 single base substitution C T upstream_gene_variant MELA-AU 2 172305408 172305408 single base substitution C T intron_variant MELA-AU 2 172305408 172305408 single base substitution C T upstream_gene_variant MELA-AU 2 172305468 172305468 single base substitution C T intron_variant MELA-AU 2 172305468 172305468 single base substitution C T upstream_gene_variant MELA-AU 2 172305508 172305508 single base substitution C T intron_variant MELA-AU 2 172305508 172305508 single base substitution C T upstream_gene_variant MELA-AU 2 172305807 172305807 single base substitution C T intron_variant MELA-AU 2 172305807 172305807 single base substitution C T upstream_gene_variant MELA-AU 2 172305888 172305888 single base substitution C T intron_variant MELA-AU 2 172305888 172305888 single base substitution C T upstream_gene_variant MELA-AU 2 172305888 172305889 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 172305888 172305889 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 172306227 172306249 deletion of <=200bp ATATAGAGGAAATTTTTTTAGCT - intron_variant MELA-AU 2 172306227 172306249 deletion of <=200bp ATATAGAGGAAATTTTTTTAGCT - upstream_gene_variant MELA-AU 2 172306457 172306457 single base substitution T C 3_prime_UTR_variant MELA-AU 2 172306457 172306457 single base substitution T C downstream_gene_variant MELA-AU 2 172306457 172306457 single base substitution T C exon_variant MELA-AU 2 172306457 172306457 single base substitution T C missense_variant V176A 527T>C MELA-AU 2 172306457 172306457 single base substitution T C upstream_gene_variant MELA-AU 2 172307249 172307249 single base substitution C T downstream_gene_variant MELA-AU 2 172307249 172307249 single base substitution C T intron_variant MELA-AU 2 172307249 172307249 single base substitution C T upstream_gene_variant MELA-AU 2 172307619 172307619 single base substitution C T downstream_gene_variant MELA-AU 2 172307619 172307619 single base substitution C T intron_variant MELA-AU 2 172307619 172307619 single base substitution C T upstream_gene_variant MELA-AU 2 172307789 172307789 single base substitution C T downstream_gene_variant MELA-AU 2 172307789 172307789 single base substitution C T intron_variant MELA-AU 2 172307789 172307789 single base substitution C T upstream_gene_variant MELA-AU 2 172308060 172308060 single base substitution A C downstream_gene_variant MELA-AU 2 172308060 172308060 single base substitution A C intron_variant MELA-AU 2 172308060 172308060 single base substitution A C upstream_gene_variant MELA-AU 2 172308285 172308285 single base substitution C T downstream_gene_variant MELA-AU 2 172308285 172308285 single base substitution C T intron_variant MELA-AU 2 172308285 172308285 single base substitution C T upstream_gene_variant MELA-AU 2 172308615 172308615 single base substitution G A downstream_gene_variant MELA-AU 2 172308615 172308615 single base substitution G A intron_variant MELA-AU 2 172308615 172308615 single base substitution G A upstream_gene_variant MELA-AU 2 172308860 172308860 single base substitution C T downstream_gene_variant MELA-AU 2 172308860 172308860 single base substitution C T intron_variant MELA-AU 2 172308860 172308860 single base substitution C T upstream_gene_variant MELA-AU 2 172308935 172308935 single base substitution C T downstream_gene_variant MELA-AU 2 172308935 172308935 single base substitution C T intron_variant MELA-AU 2 172308935 172308935 single base substitution C T upstream_gene_variant MELA-AU 2 172309891 172309891 single base substitution C T downstream_gene_variant MELA-AU 2 172309891 172309891 single base substitution C T intron_variant MELA-AU 2 172309919 172309919 single base substitution C T downstream_gene_variant MELA-AU 2 172309919 172309919 single base substitution C T intron_variant MELA-AU 2 172310038 172310038 single base substitution C T downstream_gene_variant MELA-AU 2 172310038 172310038 single base substitution C T intron_variant MELA-AU 2 172310240 172310240 single base substitution C T downstream_gene_variant MELA-AU 2 172310240 172310240 single base substitution C T intron_variant MELA-AU 2 172310563 172310564 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 172310563 172310564 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 172311463 172311463 single base substitution C T downstream_gene_variant MELA-AU 2 172311463 172311463 single base substitution C T intron_variant MELA-AU 2 172311629 172311629 single base substitution C T intron_variant MELA-AU 2 172311899 172311899 single base substitution C T intron_variant MELA-AU 2 172312579 172312579 single base substitution C T intron_variant MELA-AU 2 172313188 172313188 single base substitution C T intron_variant MELA-AU 2 172313453 172313453 single base substitution C T intron_variant MELA-AU 2 172313672 172313673 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 172314624 172314624 single base substitution G A downstream_gene_variant MELA-AU 2 172314624 172314624 single base substitution G A intron_variant MELA-AU 2 172315248 172315248 single base substitution C T downstream_gene_variant MELA-AU 2 172315248 172315248 single base substitution C T intron_variant MELA-AU 2 172315561 172315561 single base substitution C T downstream_gene_variant MELA-AU 2 172315561 172315561 single base substitution C T intron_variant MELA-AU 2 172315716 172315716 single base substitution G A downstream_gene_variant MELA-AU 2 172315716 172315716 single base substitution G A intron_variant MELA-AU 2 172315745 172315745 single base substitution C T downstream_gene_variant MELA-AU 2 172315745 172315745 single base substitution C T intron_variant MELA-AU 2 172316504 172316504 single base substitution C T downstream_gene_variant MELA-AU 2 172316504 172316504 single base substitution C T intron_variant MELA-AU 2 172317993 172317993 single base substitution T C downstream_gene_variant MELA-AU 2 172317993 172317993 single base substitution T C intron_variant MELA-AU 2 172320157 172320157 single base substitution C T intron_variant MELA-AU 2 172321212 172321212 single base substitution C T intron_variant MELA-AU 2 172321212 172321212 single base substitution C T upstream_gene_variant MELA-AU 2 172322727 172322727 single base substitution C T intron_variant MELA-AU 2 172322727 172322727 single base substitution C T upstream_gene_variant MELA-AU 2 172322756 172322756 single base substitution C T intron_variant MELA-AU 2 172322756 172322756 single base substitution C T upstream_gene_variant MELA-AU 2 172322899 172322899 single base substitution T C intron_variant MELA-AU 2 172322899 172322899 single base substitution T C upstream_gene_variant MELA-AU 2 172323032 172323032 single base substitution C T intron_variant MELA-AU 2 172323032 172323032 single base substitution C T upstream_gene_variant MELA-AU 2 172324024 172324024 single base substitution C T intron_variant MELA-AU 2 172324024 172324024 single base substitution C T upstream_gene_variant MELA-AU 2 172324246 172324246 single base substitution A C intron_variant MELA-AU 2 172324246 172324246 single base substitution A C upstream_gene_variant MELA-AU 2 172324278 172324278 single base substitution T A intron_variant MELA-AU 2 172324278 172324278 single base substitution T A upstream_gene_variant MELA-AU 2 172324533 172324533 single base substitution T C intron_variant MELA-AU 2 172324533 172324533 single base substitution T C upstream_gene_variant MELA-AU 2 172325787 172325787 single base substitution C T intron_variant MELA-AU 2 172325787 172325787 single base substitution C T upstream_gene_variant MELA-AU 2 172327040 172327040 single base substitution C T intron_variant MELA-AU 2 172327040 172327040 single base substitution C T upstream_gene_variant MELA-AU 2 172327100 172327100 single base substitution T C intron_variant MELA-AU 2 172327100 172327100 single base substitution T C upstream_gene_variant MELA-AU 2 172327532 172327532 single base substitution C T intron_variant MELA-AU 2 172327532 172327532 single base substitution C T upstream_gene_variant MELA-AU 2 172327644 172327644 single base substitution C T intron_variant MELA-AU 2 172327644 172327644 single base substitution C T upstream_gene_variant MELA-AU 2 172327701 172327702 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 172327701 172327702 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 172328400 172328400 single base substitution C T intron_variant MELA-AU 2 172328400 172328400 single base substitution C T upstream_gene_variant MELA-AU 2 172328933 172328934 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 2 172328933 172328934 multiple base substitution (>=2bp and <=200bp) CC AT upstream_gene_variant MELA-AU 2 172330031 172330031 single base substitution C T intron_variant MELA-AU 2 172330338 172330338 single base substitution C T intron_variant MELA-AU 2 172330352 172330352 single base substitution T G intron_variant MELA-AU 2 172330366 172330366 single base substitution C T intron_variant MELA-AU 2 172331409 172331410 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 172331409 172331410 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 172331409 172331410 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 172331672 172331672 single base substitution C T downstream_gene_variant MELA-AU 2 172331672 172331672 single base substitution C T intron_variant MELA-AU 2 172331672 172331672 single base substitution C T upstream_gene_variant MELA-AU 2 172331673 172331673 single base substitution C T downstream_gene_variant MELA-AU 2 172331673 172331673 single base substitution C T intron_variant MELA-AU 2 172331673 172331673 single base substitution C T upstream_gene_variant MELA-AU 2 172331699 172331699 single base substitution C T downstream_gene_variant MELA-AU 2 172331699 172331699 single base substitution C T intron_variant MELA-AU 2 172331699 172331699 single base substitution C T upstream_gene_variant MELA-AU 2 172331807 172331807 single base substitution C T downstream_gene_variant MELA-AU 2 172331807 172331807 single base substitution C T intron_variant MELA-AU 2 172331807 172331807 single base substitution C T upstream_gene_variant MELA-AU 2 172332048 172332048 single base substitution G A downstream_gene_variant MELA-AU 2 172332048 172332048 single base substitution G A intron_variant MELA-AU 2 172332048 172332048 single base substitution G A upstream_gene_variant MELA-AU 2 172332422 172332422 single base substitution C T downstream_gene_variant MELA-AU 2 172332422 172332422 single base substitution C T intron_variant MELA-AU 2 172332422 172332422 single base substitution C T upstream_gene_variant MELA-AU 2 172332553 172332553 single base substitution T C downstream_gene_variant MELA-AU 2 172332553 172332553 single base substitution T C intron_variant MELA-AU 2 172332553 172332553 single base substitution T C upstream_gene_variant MELA-AU 2 172332830 172332830 single base substitution C T downstream_gene_variant MELA-AU 2 172332830 172332830 single base substitution C T intron_variant MELA-AU 2 172332830 172332830 single base substitution C T upstream_gene_variant MELA-AU 2 172333214 172333214 single base substitution T C downstream_gene_variant MELA-AU 2 172333214 172333214 single base substitution T C intron_variant MELA-AU 2 172333214 172333214 single base substitution T C upstream_gene_variant MELA-AU 2 172333354 172333354 single base substitution C T downstream_gene_variant MELA-AU 2 172333354 172333354 single base substitution C T intron_variant MELA-AU 2 172333354 172333354 single base substitution C T upstream_gene_variant MELA-AU 2 172333485 172333485 single base substitution C T downstream_gene_variant MELA-AU 2 172333485 172333485 single base substitution C T intron_variant MELA-AU 2 172333485 172333485 single base substitution C T upstream_gene_variant MELA-AU 2 172333615 172333615 single base substitution C T downstream_gene_variant MELA-AU 2 172333615 172333615 single base substitution C T intron_variant MELA-AU 2 172333615 172333615 single base substitution C T upstream_gene_variant MELA-AU 2 172333886 172333886 single base substitution C T downstream_gene_variant MELA-AU 2 172333886 172333886 single base substitution C T intron_variant MELA-AU 2 172333886 172333886 single base substitution C T upstream_gene_variant MELA-AU 2 172333929 172333930 multiple base substitution (>=2bp and <=200bp) TG CT downstream_gene_variant MELA-AU 2 172333929 172333930 multiple base substitution (>=2bp and <=200bp) TG CT intron_variant MELA-AU 2 172333929 172333930 multiple base substitution (>=2bp and <=200bp) TG CT upstream_gene_variant MELA-AU 2 172334095 172334096 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 172334095 172334096 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 172334095 172334096 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 172334325 172334325 single base substitution C T downstream_gene_variant MELA-AU 2 172334325 172334325 single base substitution C T intron_variant MELA-AU 2 172334325 172334325 single base substitution C T upstream_gene_variant MELA-AU 2 172335271 172335271 single base substitution T C downstream_gene_variant MELA-AU 2 172335271 172335271 single base substitution T C intron_variant MELA-AU 2 172335271 172335271 single base substitution T C upstream_gene_variant MELA-AU 2 172335838 172335838 single base substitution C T downstream_gene_variant MELA-AU 2 172335838 172335838 single base substitution C T intron_variant MELA-AU 2 172335838 172335838 single base substitution C T upstream_gene_variant MELA-AU 2 172336644 172336644 single base substitution C T exon_variant MELA-AU 2 172336644 172336644 single base substitution C T missense_variant H156Y 466C>T MELA-AU 2 172336644 172336644 single base substitution C T missense_variant H205Y 613C>T MELA-AU 2 172336644 172336644 single base substitution C T missense_variant H388Y 1162C>T MELA-AU 2 172336644 172336644 single base substitution C T missense_variant H455Y 1363C>T MELA-AU 2 172336874 172336874 single base substitution C T intron_variant MELA-AU 2 172336953 172336953 single base substitution C T intron_variant MELA-AU 2 172337007 172337007 single base substitution A T intron_variant MELA-AU 2 172337263 172337263 single base substitution C T intron_variant MELA-AU 2 172337543 172337543 single base substitution C T exon_variant MELA-AU 2 172337543 172337543 single base substitution C T synonymous_variant P195P 585C>T MELA-AU 2 172337543 172337543 single base substitution C T synonymous_variant P244P 732C>T MELA-AU 2 172337543 172337543 single base substitution C T synonymous_variant P427P 1281C>T MELA-AU 2 172337543 172337543 single base substitution C T synonymous_variant P494P 1482C>T MELA-AU 2 172338071 172338071 single base substitution C T 3_prime_UTR_variant MELA-AU 2 172338071 172338071 single base substitution C T downstream_gene_variant MELA-AU 2 172338071 172338071 single base substitution C T exon_variant MELA-AU 2 172338153 172338153 single base substitution T C 3_prime_UTR_variant MELA-AU 2 172338153 172338153 single base substitution T C downstream_gene_variant MELA-AU 2 172338153 172338153 single base substitution T C exon_variant MELA-AU 2 172338211 172338211 single base substitution C T 3_prime_UTR_variant MELA-AU 2 172338211 172338211 single base substitution C T downstream_gene_variant MELA-AU 2 172338211 172338211 single base substitution C T exon_variant MELA-AU 2 172338228 172338229 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 2 172338228 172338229 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 172338228 172338229 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 2 172339418 172339418 single base substitution C T 3_prime_UTR_variant MELA-AU 2 172339418 172339418 single base substitution C T downstream_gene_variant MELA-AU 2 172339434 172339434 single base substitution G A 3_prime_UTR_variant MELA-AU 2 172339434 172339434 single base substitution G A downstream_gene_variant MELA-AU 2 172340410 172340410 single base substitution C T 3_prime_UTR_variant MELA-AU 2 172340410 172340410 single base substitution C T downstream_gene_variant MELA-AU 2 172340448 172340448 single base substitution C T 3_prime_UTR_variant MELA-AU 2 172340448 172340448 single base substitution C T downstream_gene_variant MELA-AU 2 172340505 172340505 single base substitution C T 3_prime_UTR_variant MELA-AU 2 172340505 172340505 single base substitution C T downstream_gene_variant MELA-AU 2 172340629 172340629 single base substitution C T 3_prime_UTR_variant MELA-AU 2 172340629 172340629 single base substitution C T downstream_gene_variant MELA-AU 2 172340751 172340751 single base substitution C T 3_prime_UTR_variant MELA-AU 2 172340751 172340751 single base substitution C T downstream_gene_variant MELA-AU 2 172341621 172341621 single base substitution C T downstream_gene_variant MELA-AU 2 172341844 172341844 single base substitution C T downstream_gene_variant MELA-AU 2 172342395 172342395 single base substitution C T downstream_gene_variant MELA-AU 2 172342499 172342499 single base substitution C G downstream_gene_variant MELA-AU 2 172343041 172343041 single base substitution C T downstream_gene_variant MELA-AU 2 172343385 172343385 single base substitution C T downstream_gene_variant MELA-AU 2 172343562 172343562 single base substitution C T downstream_gene_variant MELA-AU 2 172343828 172343828 single base substitution G A downstream_gene_variant MELA-AU 2 172344191 172344191 single base substitution C T downstream_gene_variant MELA-AU 2 172344235 172344235 single base substitution T C downstream_gene_variant MELA-AU 2 172344242 172344242 single base substitution A T downstream_gene_variant MELA-AU 2 172344325 172344325 single base substitution C T downstream_gene_variant MELA-AU 2 172344340 172344340 single base substitution G A downstream_gene_variant MELA-AU 2 172344526 172344526 single base substitution T C downstream_gene_variant MELA-AU 2 172344741 172344741 single base substitution C T downstream_gene_variant MELA-AU 2 172345173 172345173 single base substitution T C downstream_gene_variant MELA-AU 2 172345392 172345393 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 172345682 172345682 single base substitution C T downstream_gene_variant MELA-AU 2 172346230 172346230 single base substitution C T downstream_gene_variant MELA-AU 2 172346352 172346352 single base substitution G A downstream_gene_variant MELA-AU 2 172346383 172346383 single base substitution G A downstream_gene_variant MELA-AU 2 172346441 172346441 single base substitution G A downstream_gene_variant ORCA-IN 2 172293303 172293303 single base substitution A T intron_variant ORCA-IN 2 172302218 172302218 single base substitution G A intron_variant ORCA-IN 2 172307065 172307065 single base substitution T C downstream_gene_variant ORCA-IN 2 172307065 172307065 single base substitution T C intron_variant ORCA-IN 2 172307065 172307065 single base substitution T C upstream_gene_variant ORCA-IN 2 172314579 172314579 single base substitution T A 3_prime_UTR_variant ORCA-IN 2 172314579 172314579 single base substitution T A exon_variant ORCA-IN 2 172314579 172314579 single base substitution T A intron_variant ORCA-IN 2 172314579 172314579 single base substitution T A synonymous_variant A242A 726T>A ORCA-IN 2 172323104 172323104 single base substitution T A intron_variant ORCA-IN 2 172323104 172323104 single base substitution T A upstream_gene_variant OV-AU 2 172287220 172287220 single base substitution G T upstream_gene_variant OV-AU 2 172290024 172290024 single base substitution G A upstream_gene_variant OV-AU 2 172291334 172291334 single base substitution G T exon_variant OV-AU 2 172291334 172291334 single base substitution G T intron_variant OV-AU 2 172293055 172293055 single base substitution G C intron_variant OV-AU 2 172293689 172293689 single base substitution G T intron_variant OV-AU 2 172294255 172294255 single base substitution G C intron_variant OV-AU 2 172297865 172297865 single base substitution C G intron_variant OV-AU 2 172297865 172297865 single base substitution C G upstream_gene_variant OV-AU 2 172302518 172302518 single base substitution A C intron_variant OV-AU 2 172312728 172312728 single base substitution A G intron_variant OV-AU 2 172313577 172313577 single base substitution G A intron_variant OV-AU 2 172315528 172315528 single base substitution G T downstream_gene_variant OV-AU 2 172315528 172315528 single base substitution G T intron_variant OV-AU 2 172321338 172321338 single base substitution G A intron_variant OV-AU 2 172321338 172321338 single base substitution G A upstream_gene_variant OV-AU 2 172331956 172331956 single base substitution G C downstream_gene_variant OV-AU 2 172331956 172331956 single base substitution G C intron_variant OV-AU 2 172331956 172331956 single base substitution G C upstream_gene_variant OV-AU 2 172332094 172332094 single base substitution G T downstream_gene_variant OV-AU 2 172332094 172332094 single base substitution G T intron_variant OV-AU 2 172332094 172332094 single base substitution G T upstream_gene_variant OV-AU 2 172334569 172334569 single base substitution C A downstream_gene_variant OV-AU 2 172334569 172334569 single base substitution C A exon_variant OV-AU 2 172334569 172334569 single base substitution C A missense_variant P120T 358C>A OV-AU 2 172334569 172334569 single base substitution C A missense_variant P169T 505C>A OV-AU 2 172334569 172334569 single base substitution C A missense_variant P352T 1054C>A OV-AU 2 172334569 172334569 single base substitution C A missense_variant P419T 1255C>A OV-AU 2 172334569 172334569 single base substitution C A upstream_gene_variant OV-AU 2 172335160 172335160 single base substitution G C downstream_gene_variant OV-AU 2 172335160 172335160 single base substitution G C intron_variant OV-AU 2 172335160 172335160 single base substitution G C upstream_gene_variant OV-AU 2 172336152 172336152 single base substitution C A intron_variant OV-AU 2 172336152 172336152 single base substitution C A upstream_gene_variant PACA-AU 2 172287492 172287492 single base substitution C T upstream_gene_variant PACA-AU 2 172297684 172297684 single base substitution C G intron_variant PACA-AU 2 172297684 172297684 single base substitution C G upstream_gene_variant PACA-AU 2 172298970 172298970 single base substitution A T intron_variant PACA-AU 2 172298970 172298970 single base substitution A T upstream_gene_variant PACA-AU 2 172300594 172300594 single base substitution T G intron_variant PACA-AU 2 172309692 172309692 single base substitution C T 3_prime_UTR_variant PACA-AU 2 172309692 172309692 single base substitution C T downstream_gene_variant PACA-AU 2 172309692 172309692 single base substitution C T exon_variant PACA-AU 2 172309692 172309692 single base substitution C T missense_variant S199L 596C>T PACA-AU 2 172309692 172309692 single base substitution C T synonymous_variant F19F 57C>T PACA-AU 2 172328362 172328362 insertion of <=200bp - A intron_variant PACA-AU 2 172328362 172328362 insertion of <=200bp - A upstream_gene_variant PACA-AU 2 172328673 172328673 single base substitution G A intron_variant PACA-AU 2 172328673 172328673 single base substitution G A upstream_gene_variant PACA-AU 2 172331439 172331439 single base substitution G A downstream_gene_variant PACA-AU 2 172331439 172331439 single base substitution G A intron_variant PACA-AU 2 172331439 172331439 single base substitution G A upstream_gene_variant PACA-AU 2 172334311 172334311 single base substitution A G downstream_gene_variant PACA-AU 2 172334311 172334311 single base substitution A G intron_variant PACA-AU 2 172334311 172334311 single base substitution A G upstream_gene_variant PACA-AU 2 172336653 172336653 single base substitution G T exon_variant PACA-AU 2 172336653 172336653 single base substitution G T stop_gained E159* 475G>T PACA-AU 2 172336653 172336653 single base substitution G T stop_gained E208* 622G>T PACA-AU 2 172336653 172336653 single base substitution G T stop_gained E391* 1171G>T PACA-AU 2 172336653 172336653 single base substitution G T stop_gained E458* 1372G>T PACA-AU 2 172337594 172337612 deletion of <=200bp AGAAGAAGAAACCATAAAC - exon_variant PACA-AU 2 172337594 172337612 deletion of <=200bp AGAAGAAGAAACCATAAAC - frameshift_variant EEEETIN212 PACA-AU 2 172337594 172337612 deletion of <=200bp AGAAGAAGAAACCATAAAC - frameshift_variant EEEETIN261 PACA-AU 2 172337594 172337612 deletion of <=200bp AGAAGAAGAAACCATAAAC - frameshift_variant EEEETIN444 PACA-AU 2 172337594 172337612 deletion of <=200bp AGAAGAAGAAACCATAAAC - frameshift_variant EEEETIN511 PACA-AU 2 172346127 172346127 single base substitution A G downstream_gene_variant PACA-AU 2 172346404 172346404 single base substitution G A downstream_gene_variant PACA-CA 2 172290086 172290086 single base substitution C G upstream_gene_variant PACA-CA 2 172299968 172299968 single base substitution C T exon_variant PACA-CA 2 172299968 172299968 single base substitution C T intron_variant PACA-CA 2 172301681 172301709 deletion of <=200bp CTGCAGTGCAGTGGCGTGATCTCCACTCA - intron_variant PACA-CA 2 172304757 172304757 single base substitution T C intron_variant PACA-CA 2 172304757 172304757 single base substitution T C upstream_gene_variant PACA-CA 2 172306338 172306338 single base substitution G A intron_variant PACA-CA 2 172306338 172306338 single base substitution G A upstream_gene_variant PACA-CA 2 172310285 172310285 single base substitution T G downstream_gene_variant PACA-CA 2 172310285 172310285 single base substitution T G intron_variant PACA-CA 2 172310764 172310764 single base substitution T C downstream_gene_variant PACA-CA 2 172310764 172310764 single base substitution T C intron_variant PACA-CA 2 172315935 172315935 single base substitution T A downstream_gene_variant PACA-CA 2 172315935 172315935 single base substitution T A intron_variant PACA-CA 2 172318333 172318333 single base substitution C A downstream_gene_variant PACA-CA 2 172318333 172318333 single base substitution C A intron_variant PACA-CA 2 172322976 172322976 single base substitution C G intron_variant PACA-CA 2 172322976 172322976 single base substitution C G upstream_gene_variant PACA-CA 2 172334538 172334538 deletion of <=200bp A - downstream_gene_variant PACA-CA 2 172334538 172334538 deletion of <=200bp A - exon_variant PACA-CA 2 172334538 172334538 deletion of <=200bp A - frameshift_variant V109 PACA-CA 2 172334538 172334538 deletion of <=200bp A - frameshift_variant V158 PACA-CA 2 172334538 172334538 deletion of <=200bp A - frameshift_variant V341 PACA-CA 2 172334538 172334538 deletion of <=200bp A - frameshift_variant V408 PACA-CA 2 172334538 172334538 deletion of <=200bp A - upstream_gene_variant PACA-CA 2 172334744 172334744 single base substitution C T downstream_gene_variant PACA-CA 2 172334744 172334744 single base substitution C T intron_variant PACA-CA 2 172334744 172334744 single base substitution C T upstream_gene_variant PACA-CA 2 172341474 172341474 deletion of <=200bp T - 3_prime_UTR_variant PACA-CA 2 172341474 172341474 deletion of <=200bp T - downstream_gene_variant PACA-CA 2 172342830 172342830 deletion of <=200bp T - downstream_gene_variant PACA-CA 2 172343794 172343794 single base substitution T A downstream_gene_variant PACA-CA 2 172346106 172346106 single base substitution T G downstream_gene_variant PAEN-AU 2 172324247 172324247 single base substitution A C intron_variant PAEN-AU 2 172324247 172324247 single base substitution A C upstream_gene_variant PBCA-DE 2 172303308 172303308 single base substitution A T intron_variant PBCA-DE 2 172307527 172307527 single base substitution T G downstream_gene_variant PBCA-DE 2 172307527 172307527 single base substitution T G intron_variant PBCA-DE 2 172307527 172307527 single base substitution T G upstream_gene_variant PBCA-DE 2 172312682 172312682 single base substitution C A intron_variant PBCA-DE 2 172319765 172319765 single base substitution C A intron_variant PBCA-DE 2 172322057 172322057 single base substitution G A intron_variant PBCA-DE 2 172322057 172322057 single base substitution G A upstream_gene_variant PBCA-DE 2 172329286 172329286 single base substitution C T intron_variant PBCA-DE 2 172329286 172329286 single base substitution C T upstream_gene_variant PBCA-DE 2 172330879 172330879 single base substitution G C exon_variant PBCA-DE 2 172330879 172330879 single base substitution G C intron_variant PBCA-DE 2 172332001 172332001 single base substitution C T downstream_gene_variant PBCA-DE 2 172332001 172332001 single base substitution C T intron_variant PBCA-DE 2 172332001 172332001 single base substitution C T upstream_gene_variant PBCA-DE 2 172344786 172344786 single base substitution A T downstream_gene_variant PRAD-CA 2 172338126 172338126 single base substitution G A 3_prime_UTR_variant PRAD-CA 2 172338126 172338126 single base substitution G A downstream_gene_variant PRAD-CA 2 172338126 172338126 single base substitution G A exon_variant PRAD-UK 2 172288235 172288235 single base substitution C T upstream_gene_variant PRAD-UK 2 172302971 172302971 single base substitution G A intron_variant PRAD-UK 2 172317663 172317663 insertion of <=200bp - A downstream_gene_variant PRAD-UK 2 172317663 172317663 insertion of <=200bp - A intron_variant PRAD-UK 2 172317845 172317845 single base substitution G A downstream_gene_variant PRAD-UK 2 172317845 172317845 single base substitution G A intron_variant PRAD-UK 2 172318228 172318228 single base substitution G T downstream_gene_variant PRAD-UK 2 172318228 172318228 single base substitution G T intron_variant PRAD-UK 2 172332232 172332232 single base substitution C A downstream_gene_variant PRAD-UK 2 172332232 172332232 single base substitution C A intron_variant PRAD-UK 2 172332232 172332232 single base substitution C A upstream_gene_variant RECA-EU 2 172290412 172290412 single base substitution T G upstream_gene_variant RECA-EU 2 172303837 172303837 single base substitution G T intron_variant RECA-EU 2 172304467 172304467 single base substitution G A intron_variant RECA-EU 2 172306453 172306453 single base substitution G C 3_prime_UTR_variant RECA-EU 2 172306453 172306453 single base substitution G C downstream_gene_variant RECA-EU 2 172306453 172306453 single base substitution G C exon_variant RECA-EU 2 172306453 172306453 single base substitution G C missense_variant A175P 523G>C RECA-EU 2 172306453 172306453 single base substitution G C upstream_gene_variant RECA-EU 2 172312596 172312596 single base substitution C T intron_variant RECA-EU 2 172334011 172334011 single base substitution A C downstream_gene_variant RECA-EU 2 172334011 172334011 single base substitution A C intron_variant RECA-EU 2 172334011 172334011 single base substitution A C upstream_gene_variant RECA-EU 2 172337895 172337895 single base substitution G C 3_prime_UTR_variant RECA-EU 2 172337895 172337895 single base substitution G C downstream_gene_variant RECA-EU 2 172337895 172337895 single base substitution G C exon_variant SKCA-BR 2 172289841 172289841 single base substitution G A upstream_gene_variant SKCA-BR 2 172291701 172291701 single base substitution C G intron_variant SKCA-BR 2 172291701 172291701 single base substitution C G splice_region_variant SKCA-BR 2 172294943 172294943 single base substitution A G intron_variant SKCA-BR 2 172294943 172294943 single base substitution A G upstream_gene_variant SKCA-BR 2 172295031 172295031 single base substitution T C intron_variant SKCA-BR 2 172295031 172295031 single base substitution T C upstream_gene_variant SKCA-BR 2 172296238 172296238 single base substitution C G intron_variant SKCA-BR 2 172296238 172296238 single base substitution C G upstream_gene_variant SKCA-BR 2 172297416 172297416 single base substitution C T intron_variant SKCA-BR 2 172297416 172297416 single base substitution C T upstream_gene_variant SKCA-BR 2 172305521 172305521 single base substitution T A intron_variant SKCA-BR 2 172305521 172305521 single base substitution T A upstream_gene_variant SKCA-BR 2 172306060 172306060 single base substitution T G intron_variant SKCA-BR 2 172306060 172306060 single base substitution T G upstream_gene_variant SKCA-BR 2 172306608 172306608 single base substitution C T downstream_gene_variant SKCA-BR 2 172306608 172306608 single base substitution C T intron_variant SKCA-BR 2 172306608 172306608 single base substitution C T upstream_gene_variant SKCA-BR 2 172311234 172311234 single base substitution C T downstream_gene_variant SKCA-BR 2 172311234 172311234 single base substitution C T intron_variant SKCA-BR 2 172316862 172316862 single base substitution C A downstream_gene_variant SKCA-BR 2 172316862 172316862 single base substitution C A intron_variant SKCA-BR 2 172321358 172321358 single base substitution C T intron_variant SKCA-BR 2 172321358 172321358 single base substitution C T upstream_gene_variant SKCA-BR 2 172323463 172323463 single base substitution C T intron_variant SKCA-BR 2 172323463 172323463 single base substitution C T upstream_gene_variant SKCA-BR 2 172323496 172323496 single base substitution T A intron_variant SKCA-BR 2 172323496 172323496 single base substitution T A upstream_gene_variant SKCA-BR 2 172324082 172324082 single base substitution C T intron_variant SKCA-BR 2 172324082 172324082 single base substitution C T upstream_gene_variant SKCA-BR 2 172324238 172324238 single base substitution A G intron_variant SKCA-BR 2 172324238 172324238 single base substitution A G upstream_gene_variant SKCA-BR 2 172326875 172326875 single base substitution A T intron_variant SKCA-BR 2 172326875 172326875 single base substitution A T upstream_gene_variant SKCA-BR 2 172327067 172327067 single base substitution C T intron_variant SKCA-BR 2 172327067 172327067 single base substitution C T upstream_gene_variant SKCA-BR 2 172329708 172329708 single base substitution G A intron_variant SKCA-BR 2 172331877 172331877 single base substitution C T downstream_gene_variant SKCA-BR 2 172331877 172331877 single base substitution C T intron_variant SKCA-BR 2 172331877 172331877 single base substitution C T upstream_gene_variant SKCA-BR 2 172335955 172335955 single base substitution C T intron_variant SKCA-BR 2 172335955 172335955 single base substitution C T upstream_gene_variant SKCA-BR 2 172338745 172338745 single base substitution T C 3_prime_UTR_variant SKCA-BR 2 172338745 172338745 single base substitution T C downstream_gene_variant SKCA-BR 2 172340410 172340410 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 172340410 172340410 single base substitution C T downstream_gene_variant SKCA-BR 2 172341258 172341258 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 172341258 172341258 single base substitution C T downstream_gene_variant SKCA-BR 2 172344245 172344249 deletion of <=200bp AAGAG - downstream_gene_variant SKCA-BR 2 172344570 172344570 single base substitution A C downstream_gene_variant SKCM-US 2 172305290 172305290 single base substitution C T 3_prime_UTR_variant SKCM-US 2 172305290 172305290 single base substitution C T exon_variant SKCM-US 2 172305290 172305290 single base substitution C T missense_variant L141F 421C>T SKCM-US 2 172305290 172305290 single base substitution C T upstream_gene_variant SKCM-US 2 172306462 172306462 single base substitution C T 3_prime_UTR_variant SKCM-US 2 172306462 172306462 single base substitution C T downstream_gene_variant SKCM-US 2 172306462 172306462 single base substitution C T exon_variant SKCM-US 2 172306462 172306462 single base substitution C T missense_variant R178W 532C>T SKCM-US 2 172306462 172306462 single base substitution C T upstream_gene_variant SKCM-US 2 172333454 172333454 single base substitution C T downstream_gene_variant SKCM-US 2 172333454 172333454 single base substitution C T exon_variant SKCM-US 2 172333454 172333454 single base substitution C T intron_variant SKCM-US 2 172333454 172333454 single base substitution C T synonymous_variant N142N 426C>T SKCM-US 2 172333454 172333454 single base substitution C T synonymous_variant N392N 1176C>T SKCM-US 2 172333454 172333454 single base substitution C T synonymous_variant N93N 279C>T SKCM-US 2 172333454 172333454 single base substitution C T upstream_gene_variant STAD-US 2 172300086 172300086 deletion of <=200bp A - exon_variant STAD-US 2 172300086 172300086 deletion of <=200bp A - frameshift_variant E95 STAD-US 2 172330389 172330389 single base substitution T A exon_variant STAD-US 2 172330389 172330389 single base substitution T A intron_variant STAD-US 2 172330389 172330389 single base substitution T A missense_variant I332N 995T>A STAD-US 2 172330389 172330389 single base substitution T A missense_variant I33N 98T>A STAD-US 2 172330389 172330389 single base substitution T A missense_variant I82N 245T>A STAD-US 2 172334538 172334538 deletion of <=200bp A - downstream_gene_variant STAD-US 2 172334538 172334538 deletion of <=200bp A - exon_variant STAD-US 2 172334538 172334538 deletion of <=200bp A - frameshift_variant V109 STAD-US 2 172334538 172334538 deletion of <=200bp A - frameshift_variant V158 STAD-US 2 172334538 172334538 deletion of <=200bp A - frameshift_variant V341 STAD-US 2 172334538 172334538 deletion of <=200bp A - frameshift_variant V408 STAD-US 2 172334538 172334538 deletion of <=200bp A - upstream_gene_variant STAD-US 2 172336628 172336628 single base substitution A G exon_variant STAD-US 2 172336628 172336628 single base substitution A G synonymous_variant K150K 450A>G STAD-US 2 172336628 172336628 single base substitution A G synonymous_variant K199K 597A>G STAD-US 2 172336628 172336628 single base substitution A G synonymous_variant K382K 1146A>G STAD-US 2 172336628 172336628 single base substitution A G synonymous_variant K449K 1347A>G STAD-US 2 172337582 172337582 single base substitution T G exon_variant STAD-US 2 172337582 172337582 single base substitution T G missense_variant C208W 624T>G STAD-US 2 172337582 172337582 single base substitution T G missense_variant C257W 771T>G STAD-US 2 172337582 172337582 single base substitution T G missense_variant C440W 1320T>G STAD-US 2 172337582 172337582 single base substitution T G missense_variant C507W 1521T>G UCEC-US 2 172291690 172291690 single base substitution T C exon_variant UCEC-US 2 172291690 172291690 single base substitution T C intron_variant UCEC-US 2 172291690 172291690 single base substitution T C missense_variant V75A 224T>C UCEC-US 2 172305217 172305217 single base substitution T A exon_variant UCEC-US 2 172305217 172305217 single base substitution T A missense_variant D116E 348T>A UCEC-US 2 172305217 172305217 single base substitution T A upstream_gene_variant UCEC-US 2 172305290 172305290 single base substitution C T 3_prime_UTR_variant UCEC-US 2 172305290 172305290 single base substitution C T exon_variant UCEC-US 2 172305290 172305290 single base substitution C T missense_variant L141F 421C>T UCEC-US 2 172305290 172305290 single base substitution C T upstream_gene_variant UCEC-US 2 172309715 172309715 single base substitution A G 3_prime_UTR_variant UCEC-US 2 172309715 172309715 single base substitution A G downstream_gene_variant UCEC-US 2 172309715 172309715 single base substitution A G exon_variant UCEC-US 2 172309715 172309715 single base substitution A G missense_variant N207D 619A>G UCEC-US 2 172309715 172309715 single base substitution A G missense_variant Q27R 80A>G UCEC-US 2 172330394 172330394 single base substitution G T exon_variant UCEC-US 2 172330394 172330394 single base substitution G T intron_variant UCEC-US 2 172330394 172330394 single base substitution G T stop_gained E334* 1000G>T UCEC-US 2 172330394 172330394 single base substitution G T stop_gained E35* 103G>T UCEC-US 2 172330394 172330394 single base substitution G T stop_gained E84* 250G>T UCEC-US 2 172330446 172330446 single base substitution C A exon_variant UCEC-US 2 172330446 172330446 single base substitution C A intron_variant UCEC-US 2 172330446 172330446 single base substitution C A missense_variant A101D 302C>A UCEC-US 2 172330446 172330446 single base substitution C A missense_variant A351D 1052C>A UCEC-US 2 172330446 172330446 single base substitution C A missense_variant A52D 155C>A UCEC-US 2 172333428 172333428 single base substitution T G downstream_gene_variant UCEC-US 2 172333428 172333428 single base substitution T G exon_variant UCEC-US 2 172333428 172333428 single base substitution T G intron_variant UCEC-US 2 172333428 172333428 single base substitution T G missense_variant F134V 400T>G UCEC-US 2 172333428 172333428 single base substitution T G missense_variant F384V 1150T>G UCEC-US 2 172333428 172333428 single base substitution T G missense_variant F85V 253T>G UCEC-US 2 172333428 172333428 single base substitution T G upstream_gene_variant UCEC-US 2 172336550 172336550 single base substitution T G exon_variant UCEC-US 2 172336550 172336550 single base substitution T G splice_region_variant UCEC-US 2 172337624 172337624 single base substitution A C exon_variant UCEC-US 2 172337624 172337624 single base substitution A C stop_lost *222Y 666A>C UCEC-US 2 172337624 172337624 single base substitution A C stop_lost *271Y 813A>C UCEC-US 2 172337624 172337624 single base substitution A C stop_lost *454Y 1362A>C UCEC-US 2 172337624 172337624 single base substitution A C stop_lost *521Y 1563A>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BH-A0AZ-01 COSM441501 c.1393A>C p.S465R Substitution - Missense 2:171480164-171480164 + TCGA-22-5491-01 COSM717740 c.586C>G p.L196V Substitution - Missense 2:171453172-171453172 + TCGA-A3-3374-01 COSM1494642 c.733-2A>T p.? Unknown 2:171458370-171458370 + SNUH_G10_S1 COSM4001323 c.999A>G p.Q333Q Substitution - coding silent 2:171473883-171473883 + TCGA-EE-A29M-06 COSM3569988 c.1176C>T p.N392N Substitution - coding silent 2:171476944-171476944 + OSCC-GB_01160111 COSM5956217 c.726T>A p.A242A Substitution - coding silent 2:171458069-171458069 + T30 COSM5619211 c.939G>A p.Q313Q Substitution - coding silent 2:171468988-171468988 + TCGA-BS-A0UV-01 COSM1009538 c.1000G>T p.E334* Substitution - Nonsense 2:171473884-171473884 + TCGA-43-6770-01 COSM717741 c.426G>T p.E142D Substitution - Missense 2:171448785-171448785 + C0001T COSM4154598 c.523G>C p.A175P Substitution - Missense 2:171449943-171449943 + TCGA-CD-5801-01 COSM4086746 c.1347A>G p.K449K Substitution - coding silent 2:171480118-171480118 + 3N51-VS-3T51 COSM4983301 c.1061G>C p.R354T Substitution - Missense 2:171473945-171473945 + Pat_01_B COSM5860591 c.524C>A p.A175E Substitution - Missense 2:171449944-171449944 + TCGA-AX-A0J1-01 COSM1009536 c.421C>T p.L141F Substitution - Missense 2:171448780-171448780 + TCGA-JW-A5VJ-01 COSM4818477 c.613G>C p.E205Q Substitution - Missense 2:171453199-171453199 + T1154 COSM4676359 c.410C>T p.T137M Substitution - Missense 2:171448769-171448769 + TCGA-PJ-A5Z8-01 COSM3990755 c.1143T>A p.S381S Substitution - coding silent 2:171476911-171476911 + LS411 COSM2893282 c.1224delA p.S411fs*23 Deletion - Frameshift 2:171478028-171478028 + DLD1 COSM4624465 c.736A>T p.M246L Substitution - Missense 2:171458375-171458375 + 10-276 COSM1691390 c.1327C>T p.Q443* Substitution - Nonsense 2:171480098-171480098 + Pat_14_B COSM5860592 c.591delT p.S199fs*3 Deletion - Frameshift 2:171453177-171453177 + KM12 COSM2893270 c.639C>T p.N213N Substitution - coding silent 2:171457982-171457982 + TCGA-G4-6309-01 COSM1401252 c.220T>C p.C74R Substitution - Missense 2:171435176-171435176 + TCGA-AP-A059-01 COSM1009534 c.224T>C p.V75A Substitution - Missense 2:171435180-171435180 + TCGA-CZ-5451-01 COSM476218 c.180C>G p.A60A Substitution - coding silent 2:171435136-171435136 + TCGA-BS-A0UV-01 COSM1009540 c.1150T>G p.F384V Substitution - Missense 2:171476918-171476918 + TCGA-A6-2686-01 COSM5083531 c.284delA p.I97fs*1 Deletion - Frameshift 2:171443576-171443576 + AOCS-113-1-5 COSM4136571 c.1255C>A p.P419T Substitution - Missense 2:171478059-171478059 + TCGA-BH-A0E2-01 COSM441498 c.131G>A p.S44N Substitution - Missense 2:171435087-171435087 + 10-276 COSM3736793 c.1325C>T p.T442I Substitution - Missense 2:171480096-171480096 + TCGA-B5-A0K9-01 COSM1009537 c.619A>G p.N207D Substitution - Missense 2:171453205-171453205 + TCGA-AZ-6598-01 COSM1401253 c.640G>A p.V214I Substitution - Missense 2:171457983-171457983 + ESCC_125 COSM5641132 c.424G>A p.E142K Substitution - Missense 2:171448783-171448783 + TCGA-BR-6452-01 COSM4086745 c.995T>A p.I332N Substitution - Missense 2:171473879-171473879 + pfg068T COSM4765482 c.1224_1225insA p.S411fs*3 Insertion - Frameshift 2:171478028-171478029 + ESO-D76 COSM1249735 c.1154T>G p.V385G Substitution - Missense 2:171476922-171476922 + TCGA-HT-7616-01 COSM3971725 c.1464A>C p.L488L Substitution - coding silent 2:171481015-171481015 + CSCC-44-T COSM4522134 c.1147G>C p.D383H Substitution - Missense 2:171476915-171476915 + Pat_41_A COSM2893281 c.1223_1224insA p.S411fs*3 Insertion - Frameshift 2:171478027-171478028 + 8034252 COSM3770949 c.1372G>T p.E458* Substitution - Nonsense 2:171480143-171480143 + Patient_1 COSM5413753 c.165C>T p.S55S Substitution - coding silent 2:171435121-171435121 + TCGA-AN-A0FD-01 COSM441499 c.265C>G p.P89A Substitution - Missense 2:171443557-171443557 + TCGA-AX-A05Z-01 COSM1009542 c.1563A>C p.*521Y Nonstop extension 2:171481114-171481114 + TCGA-DK-A2I6-01 COSM1305848 c.432A>G p.I144M Substitution - Missense 2:171448791-171448791 + ESO-916 COSM1249734 c.818C>T p.P273L Substitution - Missense 2:171458457-171458457 + 585208 COSM325121 c.1090A>T p.K364* Substitution - Nonsense 2:171473974-171473974 + TCGA-AA-A010-01 COSM280305 c.455T>G p.F152C Substitution - Missense 2:171448814-171448814 + pfg104T COSM4763573 c.25G>A p.V9M Substitution - Missense 2:171434602-171434602 + TCGA-A3-3346-01 COSM1494642 c.733-2A>T p.? Unknown 2:171458370-171458370 + P00-000450 COSM243964 c.606G>T p.G202G Substitution - coding silent 2:171453192-171453192 + TCGA-G4-6302-01 COSM2893282 c.1224delA p.S411fs*23 Deletion - Frameshift 2:171478028-171478028 + LIM2551 COSM2893282 c.1224delA p.S411fs*23 Deletion - Frameshift 2:171478028-171478028 + TCGA-AX-A05Z-01 COSM1009541 c.1269T>G p.T423T Substitution - coding silent 2:171480040-171480040 + CSCC-54-T COSM4551013 c.515G>C p.R172T Substitution - Missense 2:171449935-171449935 + TCGA-BS-A0UV-01 COSM1009535 c.348T>A p.D116E Substitution - Missense 2:171448707-171448707 + PD4847a COSM5778072 c.661C>T p.H221Y Substitution - Missense 2:171458004-171458004 + SNUH_G10_S1 COSM4001324 c.1267-7C>T p.? Unknown 2:171480031-171480031 + YULAN COSM1691390 c.1327C>T p.Q443* Substitution - Nonsense 2:171480098-171480098 + TCGA-AA-3672-01 COSM266343 c.265C>T p.P89S Substitution - Missense 2:171443557-171443557 + TCGA-EE-A29E-06 COSM1009536 c.421C>T p.L141F Substitution - Missense 2:171448780-171448780 + 267T COSM1727213 c.352A>T p.K118* Substitution - Nonsense 2:171448711-171448711 + PT37 COSM5917589 c.817C>A p.P273T Substitution - Missense 2:171458456-171458456 + ESCC-225T COSM3938624 c.874G>A p.E292K Substitution - Missense 2:171468923-171468923 + TCGA-FS-A1ZC-06 COSM3569987 c.532C>T p.R178W Substitution - Missense 2:171449952-171449952 + BD189T COSM5508286 c.43C>T p.R15C Substitution - Missense 2:171434620-171434620 + YUPAT COSM1691389 c.952C>T p.H318Y Substitution - Missense 2:171469001-171469001 + TCGA-CA-6718-01 COSM1009540 c.1150T>G p.F384V Substitution - Missense 2:171476918-171476918 + ZZUFHECRKL-G034T COSM5440270 c.1158T>G p.I386M Substitution - Missense 2:171476926-171476926 + 8058339 COSM3391117 c.596C>T p.S199L Substitution - Missense 2:171453182-171453182 + TCGA-B4-5836-01 COSM1494643 c.277A>C p.K93Q Substitution - Missense 2:171443569-171443569 + T33 COSM1177791 c.1120A>T p.N374Y Substitution - Missense 2:171476888-171476888 + PT35 COSM5911618 c.1201G>T p.V401F Substitution - Missense 2:171478005-171478005 + TCGA-AK-3447-01 COSM1494642 c.733-2A>T p.? Unknown 2:171458370-171458370 + LOVO COSM2893286 c.1486_1487delAG p.R496fs*12 Deletion - Frameshift 2:171481037-171481038 + TCGA-AA-3811-01 COSM2893282 c.1224delA p.S411fs*23 Deletion - Frameshift 2:171478028-171478028 + ML_59_T_01 COSM5034256 c.230+5C>G p.? Unknown 2:171435191-171435191 + TCGA-CD-8529-01 COSM4086747 c.1521T>G p.C507W Substitution - Missense 2:171481072-171481072 + 587376 COSM1009538 c.1000G>T p.E334* Substitution - Nonsense 2:171473884-171473884 + TCGA-AP-A059-01 COSM1009539 c.1052C>A p.A351D Substitution - Missense 2:171473936-171473936 + T2944 COSM4676360 c.1168A>G p.R390G Substitution - Missense 2:171476936-171476936 + TCGA-B8-5159-01 COSM476219 c.1453G>T p.D485Y Substitution - Missense 2:171481004-171481004 + TCGA-BH-A18G-01 COSM3837412 c.961G>A p.A321T Substitution - Missense 2:171469010-171469010 + RK084_C01 COSM1631450 c.1381A>G p.T461A Substitution - Missense 2:171480152-171480152 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.659438;Hs.659439 2q31.1 612515

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.S465R c.1393A>C 2 172336674 BRCA A C Synonymous p.L488L c.1464A>C 2 172337525 LGG A G Missense p.I144M c.432A>G 2 172305301 BLCA A G Missense p.N207D c.619A>G 2 172309715 UCEC A G Missense p.T461A c.1381A>G 2 172336662 HC A G Synonymous p.R484R c.1452A>G 2 172337513 LUAD A T Nonsense p.K364* c.1090A>T 2 172330484 SCLC A T SpliceAcceptorSNV . c.733-2A>T 2 172314880 BRCA C A Missense p.T240N c.719C>A 2 172314572 HNSC C G Missense p.D485E c.1455C>G 2 172337516 CM C G Missense p.L196V c.586C>G 2 172309682 LUSC C G Missense p.P89A c.265C>G 2 172300067 BRCA C G Synonymous p.A60A c.180C>G 2 172291646 RCCC C T 5-UTRSNV . c.1-219C>T 2 172290869 DLBCL C T Missense p.P273L c.818C>T 2 172314967 ESCA C T Missense p.R178W c.532C>T 2 172306462 CM C T Synonymous p.N392N c.1176C>T 2 172333454 CM G A Missense p.S44N c.131G>A 2 172291597 BRCA G T Missense p.D416Y c.1246G>T 2 172334560 LUAD G T Missense p.E142D c.426G>T 2 172305295 LUSC G T Synonymous p.G202G c.606G>T 2 172309702 HNSC G T Synonymous p.G202G c.606G>T 2 172309702 LUAD T G Missense p.V385G c.1154T>G 2 172333432 ESCA