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 22 35734781 35734781 + Splice_Site SNP G G A TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr22:35734781G>A c.1224G>A c.(1222-1224)gcG>gcA p.A408A ACC 22 35742925 35742925 + Silent SNP T T G TCGA-OR-A5KP-01A-11D-A30A-10 TCGA-OR-A5KP-10A-01D-A30A-10 g.chr22:35742925T>G c.1287T>G c.(1285-1287)ggT>ggG p.G429G BLCA 22 35717979 35717979 + Silent SNP G G A TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr22:35717979G>A c.165G>A c.(163-165)aaG>aaA p.K55K BLCA 22 35719129 35719129 + Missense_Mutation SNP C C A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 g.chr22:35719129C>A c.325C>A c.(325-327)Cca>Aca p.P109T BLCA 22 35723321 35723321 + Missense_Mutation SNP G G C TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr22:35723321G>C c.706G>C c.(706-708)Gag>Cag p.E236Q BLCA 22 35723369 35723369 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 g.chr22:35723369G>A c.754G>A c.(754-756)Gag>Aag p.E252K BLCA 22 35726432 35726432 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 g.chr22:35726432C>T c.858C>T c.(856-858)atC>atT p.I286I BLCA 22 35734743 35734743 + Missense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr22:35734743G>A c.1186G>A c.(1186-1188)Gct>Act p.A396T BRCA 22 35695926 35695926 + Missense_Mutation SNP A A G TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 g.chr22:35695926A>G c.5A>G c.(4-6)gAc>gGc p.D2G BRCA 22 35713945 35713945 + Missense_Mutation SNP C C T TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 g.chr22:35713945C>T c.128C>T c.(127-129)aCg>aTg p.T43M BRCA 22 35729468 35729468 + Silent SNP C C G TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 g.chr22:35729468C>G c.1005C>G c.(1003-1005)ctC>ctG p.L335L BRCA 22 35734720 35734720 + Missense_Mutation SNP C C T TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 g.chr22:35734720C>T c.1163C>T c.(1162-1164)gCc>gTc p.A388V CESC 22 35719506 35719506 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 g.chr22:35719506C>T c.384C>T c.(382-384)ttC>ttT p.F128F CESC 22 35719764 35719764 + Missense_Mutation SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 g.chr22:35719764G>A c.505G>A c.(505-507)Gtg>Atg p.V169M CESC 22 35719843 35719843 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 g.chr22:35719843C>T c.584C>T c.(583-585)gCt>gTt p.A195V CESC 22 35719851 35719851 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 g.chr22:35719851C>T c.592C>T c.(592-594)Ctg>Ttg p.L198L CESC 22 35726358 35726358 + Missense_Mutation SNP C C G TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 g.chr22:35726358C>G c.784C>G c.(784-786)Cga>Gga p.R262G CHOL 22 35719501 35719501 + Missense_Mutation SNP G G A TCGA-ZH-A8Y2-01A-11D-A417-09 TCGA-ZH-A8Y2-10A-01D-A41A-09 g.chr22:35719501G>A c.379G>A c.(379-381)Gcg>Acg p.A127T COAD 22 35723304 35723304 + Missense_Mutation SNP A A G TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr22:35723304A>G c.689A>G c.(688-690)aAc>aGc p.N230S COAD 22 35726356 35726356 + Missense_Mutation SNP G G A TCGA-AA-A03F-01A-11W-A096-10 TCGA-AA-A03F-11A-12W-A096-10 g.chr22:35726356G>A c.782G>A c.(781-783)tGc>tAc p.C261Y COAD 22 35729417 35729417 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr22:35729417G>A c.954G>A c.(952-954)ccG>ccA p.P318P COADREAD 22 35723304 35723304 + Missense_Mutation SNP A A G TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr22:35723304A>G c.689A>G c.(688-690)aAc>aGc p.N230S COADREAD 22 35726356 35726356 + Missense_Mutation SNP G G A TCGA-AA-A03F-01A-11W-A096-10 TCGA-AA-A03F-11A-12W-A096-10 g.chr22:35726356G>A c.782G>A c.(781-783)tGc>tAc p.C261Y COADREAD 22 35729417 35729417 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr22:35729417G>A c.954G>A c.(952-954)ccG>ccA p.P318P DLBC 22 35713931 35713931 + Silent SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr22:35713931C>T c.114C>T c.(112-114)gaC>gaT p.D38D ESCA 22 35723300 35723300 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 g.chr22:35723300G>T c.685G>T c.(685-687)Ggg>Tgg p.G229W ESCA 22 35734728 35734728 + Missense_Mutation SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 g.chr22:35734728G>T c.1171G>T c.(1171-1173)Gca>Tca p.A391S GBMLGG 22 35726358 35726358 + Missense_Mutation SNP C C G TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 g.chr22:35726358C>G c.784C>G c.(784-786)Cga>Gga p.R262G GBMLGG 22 35726441 35726441 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:35726441C>T c.867C>T c.(865-867)gaC>gaT p.D289D GBMLGG 22 35741775 35741775 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:35741775G>A c.1282G>A c.(1282-1284)Gtg>Atg p.V428M HNSC 22 35723363 35723363 + Missense_Mutation SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr22:35723363G>A c.748G>A c.(748-750)Gac>Aac p.D250N HNSC 22 35726367 35726367 + Nonsense_Mutation SNP C C T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 g.chr22:35726367C>T c.793C>T c.(793-795)Cag>Tag p.Q265* HNSC 22 35729424 35729424 + Missense_Mutation SNP G G A TCGA-TN-A7HL-01A-11D-A34J-08 TCGA-TN-A7HL-10A-01D-A34M-08 g.chr22:35729424G>A c.961G>A c.(961-963)Gac>Aac p.D321N KIPAN 22 35719146 35719146 + Silent SNP T T C TCGA-A3-3357-01A-02D-1421-08 TCGA-A3-3357-11A-01D-1421-08 g.chr22:35719146T>C c.342T>C c.(340-342)caT>caC p.H114H KIPAN 22 35723290 35723290 + Missense_Mutation SNP G G T TCGA-P4-A5EA-01A-11D-A28G-10 TCGA-P4-A5EA-11A-11D-A28G-10 g.chr22:35723290G>T c.675G>T c.(673-675)gaG>gaT p.E225D KIRC 22 35719146 35719146 + Silent SNP T T C TCGA-A3-3357-01A-02D-1421-08 TCGA-A3-3357-11A-01D-1421-08 g.chr22:35719146T>C c.342T>C c.(340-342)caT>caC p.H114H KIRP 22 35723290 35723290 + Missense_Mutation SNP G G T TCGA-P4-A5EA-01A-11D-A28G-10 TCGA-P4-A5EA-11A-11D-A28G-10 g.chr22:35723290G>T c.675G>T c.(673-675)gaG>gaT p.E225D LGG 22 35726358 35726358 + Missense_Mutation SNP C C G TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 g.chr22:35726358C>G c.784C>G c.(784-786)Cga>Gga p.R262G LGG 22 35726441 35726441 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:35726441C>T c.867C>T c.(865-867)gaC>gaT p.D289D LGG 22 35741775 35741775 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:35741775G>A c.1282G>A c.(1282-1284)Gtg>Atg p.V428M LIHC 22 35717981 35717981 + Missense_Mutation SNP A A G TCGA-BC-A217-01A-11D-A152-10 TCGA-BC-A217-10A-01D-A152-10 g.chr22:35717981A>G c.167A>G c.(166-168)aAg>aGg p.K56R LUAD 22 35719782 35719782 + Nonsense_Mutation SNP C C T TCGA-55-6979-01A-11D-1945-08 TCGA-55-6979-11A-01D-1945-08 g.chr22:35719782C>T c.523C>T c.(523-525)Caa>Taa p.Q175* LUAD 22 35719897 35719897 + Frame_Shift_Del DEL C C - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 g.chr22:35719897delC c.638delC c.(637-639)accfs p.T213fs LUAD 22 35723360 35723360 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 g.chr22:35723360G>T c.745G>T c.(745-747)Gca>Tca p.A249S LUAD 22 35728979 35728979 + Missense_Mutation SNP A A G TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 g.chr22:35728979A>G c.905A>G c.(904-906)gAa>gGa p.E302G LUAD 22 35729396 35729396 + Splice_Site SNP G G T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr22:35729396G>T c.e10-1 LUAD 22 35742927 35742927 + Missense_Mutation SNP A A G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 g.chr22:35742927A>G c.1289A>G c.(1288-1290)aAt>aGt p.N430S LUAD 22 35743150 35743150 + Missense_Mutation SNP C C T TCGA-69-8255-01A-11D-2284-08 TCGA-69-8255-10A-01D-2284-08 g.chr22:35743150C>T c.1427C>T c.(1426-1428)gCg>gTg p.A476V LUAD 22 35743195 35743195 + Missense_Mutation SNP C C T TCGA-05-4250-01A-01D-1105-08 TCGA-05-4250-10A-01D-1105-08 g.chr22:35743195C>T c.1472C>T c.(1471-1473)gCc>gTc p.A491V LUSC 22 35713920 35713920 + Missense_Mutation SNP G G C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 g.chr22:35713920G>C c.103G>C c.(103-105)Gag>Cag p.E35Q LUSC 22 35723368 35723368 + Silent SNP G G T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 g.chr22:35723368G>T c.753G>T c.(751-753)ctG>ctT p.L251L LUSC 22 35741772 35741772 + Missense_Mutation SNP G G T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 g.chr22:35741772G>T c.1279G>T c.(1279-1281)Gac>Tac p.D427Y OV 22 35717995 35717995 + Missense_Mutation SNP A A C TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 g.chr22:35717995A>C c.181A>C c.(181-183)Aat>Cat p.N61H OV 22 35719857 35719857 + Missense_Mutation SNP G G A TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 g.chr22:35719857G>A c.598G>A c.(598-600)Gcc>Acc p.A200T OV 22 35730380 35730380 + Missense_Mutation SNP G G A TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 g.chr22:35730380G>A c.1087G>A c.(1087-1089)Gaa>Aaa p.E363K SKCM 22 35717964 35717964 + Silent SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr22:35717964C>T c.150C>T c.(148-150)gcC>gcT p.A50A SKCM 22 35717965 35717965 + Missense_Mutation SNP C C A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr22:35717965C>A c.151C>A c.(151-153)Ctc>Atc p.L51I SKCM 22 35719109 35719109 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 g.chr22:35719109C>T c.305C>T c.(304-306)aCc>aTc p.T102I SKCM 22 35719514 35719514 + Missense_Mutation SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr22:35719514C>T c.392C>T c.(391-393)tCg>tTg p.S131L SKCM 22 35719769 35719769 + Silent SNP C C T TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr22:35719769C>T c.510C>T c.(508-510)ttC>ttT p.F170F SKCM 22 35719851 35719851 + Silent SNP C C T TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr22:35719851C>T c.592C>T c.(592-594)Ctg>Ttg p.L198L SKCM 22 35728996 35728996 + Nonsense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr22:35728996C>T c.922C>T c.(922-924)Cag>Tag p.Q308* SKCM 22 35729433 35729433 + Missense_Mutation SNP G G A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 g.chr22:35729433G>A c.970G>A c.(970-972)Gac>Aac p.D324N SKCM 22 35729441 35729441 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr22:35729441C>T c.978C>T c.(976-978)ggC>ggT p.G326G SKCM 22 35729442 35729442 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr22:35729442C>T c.979C>T c.(979-981)Cct>Tct p.P327S SKCM 22 35742938 35742938 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr22:35742938G>A c.1300G>A c.(1300-1302)Gag>Aag p.E434K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 22 35729426 35729426 single base substitution C A 3_prime_UTR_variant BLCA-CN 22 35729426 35729426 single base substitution C A exon_variant BLCA-CN 22 35729426 35729426 single base substitution C A missense_variant D276E 828C>A BLCA-CN 22 35729426 35729426 single base substitution C A missense_variant D283E 849C>A BLCA-CN 22 35729426 35729426 single base substitution C A missense_variant D288E 864C>A BLCA-CN 22 35729426 35729426 single base substitution C A missense_variant D315E 945C>A BLCA-CN 22 35729426 35729426 single base substitution C A missense_variant D321E 963C>A BLCA-CN 22 35730413 35730413 single base substitution G A 3_prime_UTR_variant BLCA-CN 22 35730413 35730413 single base substitution G A downstream_gene_variant BLCA-CN 22 35730413 35730413 single base substitution G A exon_variant BLCA-CN 22 35730413 35730413 single base substitution G A missense_variant G329S 985G>A BLCA-CN 22 35730413 35730413 single base substitution G A missense_variant G336S 1006G>A BLCA-CN 22 35730413 35730413 single base substitution G A missense_variant G341S 1021G>A BLCA-CN 22 35730413 35730413 single base substitution G A missense_variant G374S 1120G>A BLCA-US 22 35719129 35719129 single base substitution C A 3_prime_UTR_variant BLCA-US 22 35719129 35719129 single base substitution C A downstream_gene_variant BLCA-US 22 35719129 35719129 single base substitution C A exon_variant BLCA-US 22 35719129 35719129 single base substitution C A missense_variant P103T 307C>A BLCA-US 22 35719129 35719129 single base substitution C A missense_variant P109T 325C>A BLCA-US 22 35719129 35719129 single base substitution C A missense_variant P42T 124C>A BLCA-US 22 35719129 35719129 single base substitution C A missense_variant P71T 211C>A BLCA-US 22 35719129 35719129 single base substitution C A missense_variant P76T 226C>A BLCA-US 22 35719129 35719129 single base substitution C A upstream_gene_variant BLCA-US 22 35723369 35723369 single base substitution G A 3_prime_UTR_variant BLCA-US 22 35723369 35723369 single base substitution G A downstream_gene_variant BLCA-US 22 35723369 35723369 single base substitution G A exon_variant BLCA-US 22 35723369 35723369 single base substitution G A missense_variant E185K 553G>A BLCA-US 22 35723369 35723369 single base substitution G A missense_variant E207K 619G>A BLCA-US 22 35723369 35723369 single base substitution G A missense_variant E214K 640G>A BLCA-US 22 35723369 35723369 single base substitution G A missense_variant E219K 655G>A BLCA-US 22 35723369 35723369 single base substitution G A missense_variant E246K 736G>A BLCA-US 22 35723369 35723369 single base substitution G A missense_variant E252K 754G>A BOCA-FR 22 35722750 35722750 single base substitution C T downstream_gene_variant BOCA-FR 22 35722750 35722750 single base substitution C T intron_variant BRCA-EU 22 35691975 35691975 single base substitution T C upstream_gene_variant BRCA-EU 22 35692599 35692599 single base substitution G A upstream_gene_variant BRCA-EU 22 35693314 35693314 single base substitution C T upstream_gene_variant BRCA-EU 22 35694953 35694953 single base substitution T A upstream_gene_variant BRCA-EU 22 35696427 35696427 single base substitution G T intron_variant BRCA-EU 22 35696464 35696464 single base substitution G C intron_variant BRCA-EU 22 35696837 35696837 single base substitution T A intron_variant BRCA-EU 22 35697430 35697430 single base substitution G A intron_variant BRCA-EU 22 35697614 35697614 single base substitution G C intron_variant BRCA-EU 22 35698016 35698016 single base substitution G T intron_variant BRCA-EU 22 35699719 35699719 single base substitution G A intron_variant BRCA-EU 22 35700291 35700291 single base substitution A C intron_variant BRCA-EU 22 35700304 35700304 single base substitution C T intron_variant BRCA-EU 22 35700490 35700490 single base substitution G C intron_variant BRCA-EU 22 35701084 35701084 single base substitution G C intron_variant BRCA-EU 22 35701349 35701349 single base substitution G A intron_variant BRCA-EU 22 35702224 35702224 insertion of <=200bp - AACC intron_variant BRCA-EU 22 35702224 35702224 insertion of <=200bp - AACC upstream_gene_variant BRCA-EU 22 35703309 35703309 single base substitution G C intron_variant BRCA-EU 22 35703309 35703309 single base substitution G C upstream_gene_variant BRCA-EU 22 35703711 35703711 single base substitution G T intron_variant BRCA-EU 22 35703711 35703711 single base substitution G T upstream_gene_variant BRCA-EU 22 35703727 35703727 single base substitution G C intron_variant BRCA-EU 22 35703727 35703727 single base substitution G C upstream_gene_variant BRCA-EU 22 35703948 35703948 single base substitution T C intron_variant BRCA-EU 22 35703948 35703948 single base substitution T C upstream_gene_variant BRCA-EU 22 35704228 35704229 deletion of <=200bp TC - intron_variant BRCA-EU 22 35704228 35704229 deletion of <=200bp TC - upstream_gene_variant BRCA-EU 22 35705083 35705083 single base substitution G A intron_variant BRCA-EU 22 35705083 35705083 single base substitution G A upstream_gene_variant BRCA-EU 22 35705557 35705557 single base substitution A G intron_variant BRCA-EU 22 35705557 35705557 single base substitution A G upstream_gene_variant BRCA-EU 22 35705652 35705652 single base substitution A G intron_variant BRCA-EU 22 35705652 35705652 single base substitution A G upstream_gene_variant BRCA-EU 22 35708051 35708051 single base substitution G C intron_variant BRCA-EU 22 35712155 35712155 single base substitution G A intron_variant BRCA-EU 22 35712479 35712479 single base substitution T C intron_variant BRCA-EU 22 35714191 35714191 single base substitution C T exon_variant BRCA-EU 22 35714191 35714191 single base substitution C T intron_variant BRCA-EU 22 35714199 35714199 deletion of <=200bp A - exon_variant BRCA-EU 22 35714199 35714199 deletion of <=200bp A - intron_variant BRCA-EU 22 35715683 35715683 single base substitution G A downstream_gene_variant BRCA-EU 22 35715683 35715683 single base substitution G A intron_variant BRCA-EU 22 35715683 35715683 single base substitution G A upstream_gene_variant BRCA-EU 22 35716108 35716108 single base substitution A G downstream_gene_variant BRCA-EU 22 35716108 35716108 single base substitution A G intron_variant BRCA-EU 22 35716108 35716108 single base substitution A G upstream_gene_variant BRCA-EU 22 35717552 35717552 single base substitution C T downstream_gene_variant BRCA-EU 22 35717552 35717552 single base substitution C T intron_variant BRCA-EU 22 35717552 35717552 single base substitution C T upstream_gene_variant BRCA-EU 22 35717554 35717554 single base substitution G C downstream_gene_variant BRCA-EU 22 35717554 35717554 single base substitution G C intron_variant BRCA-EU 22 35717554 35717554 single base substitution G C upstream_gene_variant BRCA-EU 22 35717592 35717592 single base substitution A G downstream_gene_variant BRCA-EU 22 35717592 35717592 single base substitution A G intron_variant BRCA-EU 22 35717592 35717592 single base substitution A G upstream_gene_variant BRCA-EU 22 35718869 35718869 single base substitution C T downstream_gene_variant BRCA-EU 22 35718869 35718869 single base substitution C T intron_variant BRCA-EU 22 35718869 35718869 single base substitution C T upstream_gene_variant BRCA-EU 22 35723100 35723100 single base substitution G C downstream_gene_variant BRCA-EU 22 35723100 35723100 single base substitution G C intron_variant BRCA-EU 22 35726968 35726968 single base substitution A T downstream_gene_variant BRCA-EU 22 35726968 35726968 single base substitution A T intron_variant BRCA-EU 22 35726969 35726969 single base substitution G T downstream_gene_variant BRCA-EU 22 35726969 35726969 single base substitution G T intron_variant BRCA-EU 22 35729698 35729698 single base substitution A G downstream_gene_variant BRCA-EU 22 35729698 35729698 single base substitution A G intron_variant BRCA-EU 22 35732442 35732442 single base substitution C T downstream_gene_variant BRCA-EU 22 35732442 35732442 single base substitution C T intron_variant BRCA-EU 22 35733710 35733710 single base substitution C G downstream_gene_variant BRCA-EU 22 35733710 35733710 single base substitution C G intron_variant BRCA-EU 22 35736091 35736091 single base substitution G C downstream_gene_variant BRCA-EU 22 35736091 35736091 single base substitution G C intron_variant BRCA-EU 22 35736091 35736091 single base substitution G C upstream_gene_variant BRCA-EU 22 35736398 35736398 single base substitution G A downstream_gene_variant BRCA-EU 22 35736398 35736398 single base substitution G A intron_variant BRCA-EU 22 35736398 35736398 single base substitution G A upstream_gene_variant BRCA-EU 22 35737546 35737546 single base substitution G C downstream_gene_variant BRCA-EU 22 35737546 35737546 single base substitution G C intron_variant BRCA-EU 22 35737546 35737546 single base substitution G C upstream_gene_variant BRCA-EU 22 35738134 35738134 deletion of <=200bp A - downstream_gene_variant BRCA-EU 22 35738134 35738134 deletion of <=200bp A - intron_variant BRCA-EU 22 35738134 35738134 deletion of <=200bp A - upstream_gene_variant BRCA-EU 22 35741210 35741210 single base substitution T G exon_variant BRCA-EU 22 35741210 35741210 single base substitution T G intron_variant BRCA-EU 22 35741306 35741306 single base substitution G C exon_variant BRCA-EU 22 35741306 35741306 single base substitution G C intron_variant BRCA-EU 22 35742516 35742516 single base substitution C A intron_variant BRCA-EU 22 35743925 35743925 single base substitution G T 3_prime_UTR_variant BRCA-EU 22 35743925 35743925 single base substitution G T downstream_gene_variant BRCA-EU 22 35743925 35743925 single base substitution G T exon_variant BRCA-EU 22 35744136 35744136 single base substitution C A downstream_gene_variant BRCA-EU 22 35744467 35744467 single base substitution G T downstream_gene_variant BRCA-EU 22 35746921 35746921 single base substitution G T downstream_gene_variant BRCA-FR 22 35695746 35695746 single base substitution C T intron_variant BRCA-FR 22 35695746 35695746 single base substitution C T upstream_gene_variant BRCA-FR 22 35696464 35696464 single base substitution G C intron_variant BRCA-FR 22 35697430 35697430 single base substitution G A intron_variant BRCA-FR 22 35698016 35698016 single base substitution G T intron_variant BRCA-FR 22 35703711 35703711 single base substitution G T intron_variant BRCA-FR 22 35703711 35703711 single base substitution G T upstream_gene_variant BRCA-FR 22 35703727 35703727 single base substitution G C intron_variant BRCA-FR 22 35703727 35703727 single base substitution G C upstream_gene_variant BRCA-FR 22 35717969 35717969 single base substitution G A 3_prime_UTR_variant BRCA-FR 22 35717969 35717969 single base substitution G A 5_prime_UTR_variant BRCA-FR 22 35717969 35717969 single base substitution G A downstream_gene_variant BRCA-FR 22 35717969 35717969 single base substitution G A exon_variant BRCA-FR 22 35717969 35717969 single base substitution G A intron_variant BRCA-FR 22 35717969 35717969 single base substitution G A missense_variant R19Q 56G>A BRCA-FR 22 35717969 35717969 single base substitution G A missense_variant R52Q 155G>A BRCA-FR 22 35717969 35717969 single base substitution G A upstream_gene_variant BRCA-FR 22 35718869 35718869 single base substitution C T downstream_gene_variant BRCA-FR 22 35718869 35718869 single base substitution C T intron_variant BRCA-FR 22 35718869 35718869 single base substitution C T upstream_gene_variant BRCA-FR 22 35723100 35723100 single base substitution G C downstream_gene_variant BRCA-FR 22 35723100 35723100 single base substitution G C intron_variant BRCA-FR 22 35731483 35731483 single base substitution G C downstream_gene_variant BRCA-FR 22 35731483 35731483 single base substitution G C intron_variant BRCA-FR 22 35736091 35736091 single base substitution G C downstream_gene_variant BRCA-FR 22 35736091 35736091 single base substitution G C intron_variant BRCA-FR 22 35736091 35736091 single base substitution G C upstream_gene_variant BRCA-UK 22 35692599 35692599 single base substitution G A upstream_gene_variant BRCA-UK 22 35708051 35708051 single base substitution G C intron_variant BRCA-UK 22 35713881 35713881 single base substitution G A 5_prime_UTR_variant BRCA-UK 22 35713881 35713881 single base substitution G A exon_variant BRCA-UK 22 35713881 35713881 single base substitution G A intron_variant BRCA-UK 22 35713881 35713881 single base substitution G A missense_variant D22N 64G>A BRCA-UK 22 35719048 35719048 single base substitution G A 3_prime_UTR_variant BRCA-UK 22 35719048 35719048 single base substitution G A downstream_gene_variant BRCA-UK 22 35719048 35719048 single base substitution G A exon_variant BRCA-UK 22 35719048 35719048 single base substitution G A missense_variant G15R 43G>A BRCA-UK 22 35719048 35719048 single base substitution G A missense_variant G44R 130G>A BRCA-UK 22 35719048 35719048 single base substitution G A missense_variant G49R 145G>A BRCA-UK 22 35719048 35719048 single base substitution G A missense_variant G76R 226G>A BRCA-UK 22 35719048 35719048 single base substitution G A missense_variant G82R 244G>A BRCA-UK 22 35719048 35719048 single base substitution G A upstream_gene_variant BRCA-US 22 35695926 35695926 single base substitution A G 5_prime_UTR_variant BRCA-US 22 35695926 35695926 single base substitution A G exon_variant BRCA-US 22 35695926 35695926 single base substitution A G intron_variant BRCA-US 22 35695926 35695926 single base substitution A G missense_variant D2G 5A>G BRCA-US 22 35713945 35713945 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 22 35713945 35713945 single base substitution C T exon_variant BRCA-US 22 35713945 35713945 single base substitution C T intron_variant BRCA-US 22 35713945 35713945 single base substitution C T missense_variant R22W 64C>T BRCA-US 22 35713945 35713945 single base substitution C T missense_variant T10M 29C>T BRCA-US 22 35713945 35713945 single base substitution C T missense_variant T43M 128C>T BRCA-US 22 35729468 35729468 single base substitution C G 3_prime_UTR_variant BRCA-US 22 35729468 35729468 single base substitution C G exon_variant BRCA-US 22 35729468 35729468 single base substitution C G synonymous_variant L290L 870C>G BRCA-US 22 35729468 35729468 single base substitution C G synonymous_variant L297L 891C>G BRCA-US 22 35729468 35729468 single base substitution C G synonymous_variant L302L 906C>G BRCA-US 22 35729468 35729468 single base substitution C G synonymous_variant L329L 987C>G BRCA-US 22 35729468 35729468 single base substitution C G synonymous_variant L335L 1005C>G BRCA-US 22 35734720 35734720 single base substitution C T 3_prime_UTR_variant BRCA-US 22 35734720 35734720 single base substitution C T exon_variant BRCA-US 22 35734720 35734720 single base substitution C T missense_variant A343V 1028C>T BRCA-US 22 35734720 35734720 single base substitution C T missense_variant A350V 1049C>T BRCA-US 22 35734720 35734720 single base substitution C T missense_variant A355V 1064C>T BRCA-US 22 35734720 35734720 single base substitution C T missense_variant A388V 1163C>T BTCA-JP 22 35719515 35719515 single base substitution G A 3_prime_UTR_variant BTCA-JP 22 35719515 35719515 single base substitution G A downstream_gene_variant BTCA-JP 22 35719515 35719515 single base substitution G A exon_variant BTCA-JP 22 35719515 35719515 single base substitution G A intron_variant BTCA-JP 22 35719515 35719515 single base substitution G A synonymous_variant S125S 375G>A BTCA-JP 22 35719515 35719515 single base substitution G A synonymous_variant S131S 393G>A BTCA-JP 22 35719515 35719515 single base substitution G A synonymous_variant S64S 192G>A BTCA-JP 22 35719515 35719515 single base substitution G A synonymous_variant S93S 279G>A BTCA-JP 22 35719515 35719515 single base substitution G A synonymous_variant S98S 294G>A BTCA-JP 22 35719515 35719515 single base substitution G A upstream_gene_variant BTCA-JP 22 35723327 35723327 single base substitution C G 3_prime_UTR_variant BTCA-JP 22 35723327 35723327 single base substitution C G downstream_gene_variant BTCA-JP 22 35723327 35723327 single base substitution C G exon_variant BTCA-JP 22 35723327 35723327 single base substitution C G missense_variant L171V 511C>G BTCA-JP 22 35723327 35723327 single base substitution C G missense_variant L193V 577C>G BTCA-JP 22 35723327 35723327 single base substitution C G missense_variant L200V 598C>G BTCA-JP 22 35723327 35723327 single base substitution C G missense_variant L205V 613C>G BTCA-JP 22 35723327 35723327 single base substitution C G missense_variant L232V 694C>G BTCA-JP 22 35723327 35723327 single base substitution C G missense_variant L238V 712C>G BTCA-JP 22 35726399 35726399 single base substitution C T 3_prime_UTR_variant BTCA-JP 22 35726399 35726399 single base substitution C T downstream_gene_variant BTCA-JP 22 35726399 35726399 single base substitution C T exon_variant BTCA-JP 22 35726399 35726399 single base substitution C T synonymous_variant I208I 624C>T BTCA-JP 22 35726399 35726399 single base substitution C T synonymous_variant I230I 690C>T BTCA-JP 22 35726399 35726399 single base substitution C T synonymous_variant I237I 711C>T BTCA-JP 22 35726399 35726399 single base substitution C T synonymous_variant I242I 726C>T BTCA-JP 22 35726399 35726399 single base substitution C T synonymous_variant I269I 807C>T BTCA-JP 22 35726399 35726399 single base substitution C T synonymous_variant I275I 825C>T BTCA-JP 22 35741767 35741767 deletion of <=200bp C - 3_prime_UTR_variant BTCA-JP 22 35741767 35741767 deletion of <=200bp C - exon_variant BTCA-JP 22 35741767 35741767 deletion of <=200bp C - frameshift_variant S380 BTCA-JP 22 35741767 35741767 deletion of <=200bp C - frameshift_variant S387 BTCA-JP 22 35741767 35741767 deletion of <=200bp C - frameshift_variant S392 BTCA-JP 22 35741767 35741767 deletion of <=200bp C - frameshift_variant S425 BTCA-JP 22 35742975 35742975 single base substitution G A intron_variant CESC-US 22 35719506 35719506 single base substitution C T 3_prime_UTR_variant CESC-US 22 35719506 35719506 single base substitution C T downstream_gene_variant CESC-US 22 35719506 35719506 single base substitution C T exon_variant CESC-US 22 35719506 35719506 single base substitution C T intron_variant CESC-US 22 35719506 35719506 single base substitution C T splice_region_variant CESC-US 22 35719506 35719506 single base substitution C T synonymous_variant F122F 366C>T CESC-US 22 35719506 35719506 single base substitution C T synonymous_variant F128F 384C>T CESC-US 22 35719506 35719506 single base substitution C T synonymous_variant F61F 183C>T CESC-US 22 35719506 35719506 single base substitution C T synonymous_variant F90F 270C>T CESC-US 22 35719506 35719506 single base substitution C T synonymous_variant F95F 285C>T CESC-US 22 35719506 35719506 single base substitution C T upstream_gene_variant CESC-US 22 35719764 35719764 single base substitution G A 3_prime_UTR_variant CESC-US 22 35719764 35719764 single base substitution G A downstream_gene_variant CESC-US 22 35719764 35719764 single base substitution G A exon_variant CESC-US 22 35719764 35719764 single base substitution G A missense_variant V102M 304G>A CESC-US 22 35719764 35719764 single base substitution G A missense_variant V124M 370G>A CESC-US 22 35719764 35719764 single base substitution G A missense_variant V131M 391G>A CESC-US 22 35719764 35719764 single base substitution G A missense_variant V136M 406G>A CESC-US 22 35719764 35719764 single base substitution G A missense_variant V163M 487G>A CESC-US 22 35719764 35719764 single base substitution G A missense_variant V169M 505G>A CESC-US 22 35719764 35719764 single base substitution G A upstream_gene_variant CESC-US 22 35719843 35719843 single base substitution C T 3_prime_UTR_variant CESC-US 22 35719843 35719843 single base substitution C T downstream_gene_variant CESC-US 22 35719843 35719843 single base substitution C T exon_variant CESC-US 22 35719843 35719843 single base substitution C T missense_variant A128V 383C>T CESC-US 22 35719843 35719843 single base substitution C T missense_variant A150V 449C>T CESC-US 22 35719843 35719843 single base substitution C T missense_variant A157V 470C>T CESC-US 22 35719843 35719843 single base substitution C T missense_variant A162V 485C>T CESC-US 22 35719843 35719843 single base substitution C T missense_variant A189V 566C>T CESC-US 22 35719843 35719843 single base substitution C T missense_variant A195V 584C>T CESC-US 22 35719843 35719843 single base substitution C T upstream_gene_variant CESC-US 22 35719851 35719851 single base substitution C T 3_prime_UTR_variant CESC-US 22 35719851 35719851 single base substitution C T downstream_gene_variant CESC-US 22 35719851 35719851 single base substitution C T exon_variant CESC-US 22 35719851 35719851 single base substitution C T synonymous_variant L131L 391C>T CESC-US 22 35719851 35719851 single base substitution C T synonymous_variant L153L 457C>T CESC-US 22 35719851 35719851 single base substitution C T synonymous_variant L160L 478C>T CESC-US 22 35719851 35719851 single base substitution C T synonymous_variant L165L 493C>T CESC-US 22 35719851 35719851 single base substitution C T synonymous_variant L192L 574C>T CESC-US 22 35719851 35719851 single base substitution C T synonymous_variant L198L 592C>T CESC-US 22 35719851 35719851 single base substitution C T upstream_gene_variant CESC-US 22 35726358 35726358 single base substitution C G 3_prime_UTR_variant CESC-US 22 35726358 35726358 single base substitution C G downstream_gene_variant CESC-US 22 35726358 35726358 single base substitution C G exon_variant CESC-US 22 35726358 35726358 single base substitution C G missense_variant R195G 583C>G CESC-US 22 35726358 35726358 single base substitution C G missense_variant R217G 649C>G CESC-US 22 35726358 35726358 single base substitution C G missense_variant R224G 670C>G CESC-US 22 35726358 35726358 single base substitution C G missense_variant R229G 685C>G CESC-US 22 35726358 35726358 single base substitution C G missense_variant R256G 766C>G CESC-US 22 35726358 35726358 single base substitution C G missense_variant R262G 784C>G CLLE-ES 22 35696913 35696913 single base substitution A G intron_variant CLLE-ES 22 35746428 35746428 single base substitution G A downstream_gene_variant COAD-US 22 35734720 35734720 deletion of <=200bp C - 3_prime_UTR_variant COAD-US 22 35734720 35734720 deletion of <=200bp C - exon_variant COAD-US 22 35734720 35734720 deletion of <=200bp C - frameshift_variant A343 COAD-US 22 35734720 35734720 deletion of <=200bp C - frameshift_variant A350 COAD-US 22 35734720 35734720 deletion of <=200bp C - frameshift_variant A355 COAD-US 22 35734720 35734720 deletion of <=200bp C - frameshift_variant A388 COCA-CN 22 35695893 35695893 single base substitution C A 5_prime_UTR_variant COCA-CN 22 35695893 35695893 single base substitution C A exon_variant COCA-CN 22 35695893 35695893 single base substitution C A intron_variant COCA-CN 22 35696077 35696077 single base substitution G C intron_variant COCA-CN 22 35719178 35719178 single base substitution C T downstream_gene_variant COCA-CN 22 35719178 35719178 single base substitution C T splice_region_variant COCA-CN 22 35719178 35719178 single base substitution C T upstream_gene_variant COCA-CN 22 35719996 35719996 single base substitution G T downstream_gene_variant COCA-CN 22 35719996 35719996 single base substitution G T intron_variant COCA-CN 22 35723305 35723305 single base substitution C T 3_prime_UTR_variant COCA-CN 22 35723305 35723305 single base substitution C T downstream_gene_variant COCA-CN 22 35723305 35723305 single base substitution C T exon_variant COCA-CN 22 35723305 35723305 single base substitution C T synonymous_variant N163N 489C>T COCA-CN 22 35723305 35723305 single base substitution C T synonymous_variant N185N 555C>T COCA-CN 22 35723305 35723305 single base substitution C T synonymous_variant N192N 576C>T COCA-CN 22 35723305 35723305 single base substitution C T synonymous_variant N197N 591C>T COCA-CN 22 35723305 35723305 single base substitution C T synonymous_variant N224N 672C>T COCA-CN 22 35723305 35723305 single base substitution C T synonymous_variant N230N 690C>T COCA-CN 22 35723443 35723443 single base substitution C A downstream_gene_variant COCA-CN 22 35723443 35723443 single base substitution C A intron_variant COCA-CN 22 35727279 35727279 single base substitution C T downstream_gene_variant COCA-CN 22 35727279 35727279 single base substitution C T intron_variant COCA-CN 22 35729558 35729558 single base substitution C T downstream_gene_variant COCA-CN 22 35729558 35729558 single base substitution C T intron_variant COCA-CN 22 35731712 35731712 single base substitution G T downstream_gene_variant COCA-CN 22 35731712 35731712 single base substitution G T intron_variant ESAD-UK 22 35690348 35690348 single base substitution A G upstream_gene_variant ESAD-UK 22 35690481 35690481 single base substitution C T upstream_gene_variant ESAD-UK 22 35696183 35696183 single base substitution A C intron_variant ESAD-UK 22 35697669 35697669 single base substitution C A intron_variant ESAD-UK 22 35699052 35699052 single base substitution G T intron_variant ESAD-UK 22 35699233 35699233 single base substitution C T intron_variant ESAD-UK 22 35699257 35699257 single base substitution C T intron_variant ESAD-UK 22 35700767 35700767 single base substitution G A intron_variant ESAD-UK 22 35707199 35707199 single base substitution A G intron_variant ESAD-UK 22 35708802 35708802 single base substitution G A intron_variant ESAD-UK 22 35709116 35709116 single base substitution G A intron_variant ESAD-UK 22 35710671 35710671 single base substitution G T intron_variant ESAD-UK 22 35714040 35714040 single base substitution C T exon_variant ESAD-UK 22 35714040 35714040 single base substitution C T intron_variant ESAD-UK 22 35714282 35714282 single base substitution A G exon_variant ESAD-UK 22 35714282 35714282 single base substitution A G intron_variant ESAD-UK 22 35716995 35716995 insertion of <=200bp - AC downstream_gene_variant ESAD-UK 22 35716995 35716995 insertion of <=200bp - AC intron_variant ESAD-UK 22 35716995 35716995 insertion of <=200bp - AC upstream_gene_variant ESAD-UK 22 35718710 35718710 single base substitution G C downstream_gene_variant ESAD-UK 22 35718710 35718710 single base substitution G C intron_variant ESAD-UK 22 35718710 35718710 single base substitution G C upstream_gene_variant ESAD-UK 22 35718998 35718998 single base substitution G A downstream_gene_variant ESAD-UK 22 35718998 35718998 single base substitution G A exon_variant ESAD-UK 22 35718998 35718998 single base substitution G A intron_variant ESAD-UK 22 35718998 35718998 single base substitution G A missense_variant R27Q 80G>A ESAD-UK 22 35718998 35718998 single base substitution G A upstream_gene_variant ESAD-UK 22 35721427 35721427 single base substitution G A downstream_gene_variant ESAD-UK 22 35721427 35721427 single base substitution G A intron_variant ESAD-UK 22 35723433 35723433 single base substitution C T downstream_gene_variant ESAD-UK 22 35723433 35723433 single base substitution C T intron_variant ESAD-UK 22 35725250 35725250 deletion of <=200bp T - downstream_gene_variant ESAD-UK 22 35725250 35725250 deletion of <=200bp T - intron_variant ESAD-UK 22 35726053 35726053 single base substitution G A downstream_gene_variant ESAD-UK 22 35726053 35726053 single base substitution G A intron_variant ESAD-UK 22 35728160 35728160 single base substitution G A downstream_gene_variant ESAD-UK 22 35728160 35728160 single base substitution G A intron_variant ESAD-UK 22 35732434 35732434 single base substitution C T downstream_gene_variant ESAD-UK 22 35732434 35732434 single base substitution C T intron_variant ESAD-UK 22 35734489 35734489 single base substitution G C intron_variant ESAD-UK 22 35742880 35742880 single base substitution G A intron_variant ESCA-CN 22 35723231 35723231 single base substitution G A downstream_gene_variant ESCA-CN 22 35723231 35723231 single base substitution G A intron_variant ESCA-CN 22 35743201 35743201 single base substitution G C 3_prime_UTR_variant ESCA-CN 22 35743201 35743201 single base substitution G C exon_variant ESCA-CN 22 35743201 35743201 single base substitution G C stop_lost *448S 1343G>C ESCA-CN 22 35743201 35743201 single base substitution G C stop_lost *455S 1364G>C ESCA-CN 22 35743201 35743201 single base substitution G C stop_lost *461S 1382G>C ESCA-CN 22 35743201 35743201 single base substitution G C stop_lost *493S 1478G>C ESCA-CN 22 35743201 35743201 single base substitution G C stop_lost *494S 1481G>C KIRC-US 22 35719146 35719146 single base substitution T C 3_prime_UTR_variant KIRC-US 22 35719146 35719146 single base substitution T C downstream_gene_variant KIRC-US 22 35719146 35719146 single base substitution T C exon_variant KIRC-US 22 35719146 35719146 single base substitution T C synonymous_variant H108H 324T>C KIRC-US 22 35719146 35719146 single base substitution T C synonymous_variant H114H 342T>C KIRC-US 22 35719146 35719146 single base substitution T C synonymous_variant H47H 141T>C KIRC-US 22 35719146 35719146 single base substitution T C synonymous_variant H76H 228T>C KIRC-US 22 35719146 35719146 single base substitution T C synonymous_variant H81H 243T>C KIRC-US 22 35719146 35719146 single base substitution T C upstream_gene_variant KIRP-US 22 35723290 35723290 single base substitution G T 3_prime_UTR_variant KIRP-US 22 35723290 35723290 single base substitution G T downstream_gene_variant KIRP-US 22 35723290 35723290 single base substitution G T exon_variant KIRP-US 22 35723290 35723290 single base substitution G T missense_variant E158D 474G>T KIRP-US 22 35723290 35723290 single base substitution G T missense_variant E180D 540G>T KIRP-US 22 35723290 35723290 single base substitution G T missense_variant E187D 561G>T KIRP-US 22 35723290 35723290 single base substitution G T missense_variant E192D 576G>T KIRP-US 22 35723290 35723290 single base substitution G T missense_variant E219D 657G>T KIRP-US 22 35723290 35723290 single base substitution G T missense_variant E225D 675G>T KIRP-US 22 35723291 35723291 single base substitution A C 3_prime_UTR_variant KIRP-US 22 35723291 35723291 single base substitution A C downstream_gene_variant KIRP-US 22 35723291 35723291 single base substitution A C exon_variant KIRP-US 22 35723291 35723291 single base substitution A C missense_variant M159L 475A>C KIRP-US 22 35723291 35723291 single base substitution A C missense_variant M181L 541A>C KIRP-US 22 35723291 35723291 single base substitution A C missense_variant M188L 562A>C KIRP-US 22 35723291 35723291 single base substitution A C missense_variant M193L 577A>C KIRP-US 22 35723291 35723291 single base substitution A C missense_variant M220L 658A>C KIRP-US 22 35723291 35723291 single base substitution A C missense_variant M226L 676A>C LAML-KR 22 35693839 35693839 single base substitution T G upstream_gene_variant LAML-KR 22 35739571 35739571 single base substitution T C downstream_gene_variant LAML-KR 22 35739571 35739571 single base substitution T C intron_variant LAML-KR 22 35739571 35739571 single base substitution T C upstream_gene_variant LAML-KR 22 35739674 35739674 single base substitution C T downstream_gene_variant LAML-KR 22 35739674 35739674 single base substitution C T intron_variant LAML-KR 22 35739674 35739674 single base substitution C T upstream_gene_variant LGG-US 22 35726358 35726358 single base substitution C G 3_prime_UTR_variant LGG-US 22 35726358 35726358 single base substitution C G downstream_gene_variant LGG-US 22 35726358 35726358 single base substitution C G exon_variant LGG-US 22 35726358 35726358 single base substitution C G missense_variant R195G 583C>G LGG-US 22 35726358 35726358 single base substitution C G missense_variant R217G 649C>G LGG-US 22 35726358 35726358 single base substitution C G missense_variant R224G 670C>G LGG-US 22 35726358 35726358 single base substitution C G missense_variant R229G 685C>G LGG-US 22 35726358 35726358 single base substitution C G missense_variant R256G 766C>G LGG-US 22 35726358 35726358 single base substitution C G missense_variant R262G 784C>G LICA-FR 22 35719342 35719342 single base substitution C T downstream_gene_variant LICA-FR 22 35719342 35719342 single base substitution C T exon_variant LICA-FR 22 35719342 35719342 single base substitution C T intron_variant LICA-FR 22 35719342 35719342 single base substitution C T upstream_gene_variant LIHC-US 22 35717981 35717981 single base substitution A G 3_prime_UTR_variant LIHC-US 22 35717981 35717981 single base substitution A G 5_prime_UTR_variant LIHC-US 22 35717981 35717981 single base substitution A G downstream_gene_variant LIHC-US 22 35717981 35717981 single base substitution A G exon_variant LIHC-US 22 35717981 35717981 single base substitution A G intron_variant LIHC-US 22 35717981 35717981 single base substitution A G missense_variant K23R 68A>G LIHC-US 22 35717981 35717981 single base substitution A G missense_variant K56R 167A>G LIHC-US 22 35717981 35717981 single base substitution A G upstream_gene_variant LINC-JP 22 35692916 35692916 single base substitution G T upstream_gene_variant LINC-JP 22 35707760 35707760 single base substitution C T intron_variant LINC-JP 22 35729098 35729098 single base substitution G T intron_variant LINC-JP 22 35731922 35731922 single base substitution G A downstream_gene_variant LINC-JP 22 35731922 35731922 single base substitution G A intron_variant LINC-JP 22 35743202 35743202 single base substitution A T 3_prime_UTR_variant LINC-JP 22 35743202 35743202 single base substitution A T exon_variant LINC-JP 22 35743202 35743202 single base substitution A T stop_lost *448C 1344A>T LINC-JP 22 35743202 35743202 single base substitution A T stop_lost *455C 1365A>T LINC-JP 22 35743202 35743202 single base substitution A T stop_lost *461C 1383A>T LINC-JP 22 35743202 35743202 single base substitution A T stop_lost *493C 1479A>T LINC-JP 22 35743202 35743202 single base substitution A T stop_lost *494C 1482A>T LINC-JP 22 35743868 35743868 single base substitution C A 3_prime_UTR_variant LINC-JP 22 35743868 35743868 single base substitution C A downstream_gene_variant LINC-JP 22 35743868 35743868 single base substitution C A exon_variant LIRI-JP 22 35690784 35690784 single base substitution G T upstream_gene_variant LIRI-JP 22 35691836 35691836 single base substitution A G upstream_gene_variant LIRI-JP 22 35697635 35697635 single base substitution G A intron_variant LIRI-JP 22 35697669 35697669 single base substitution C G intron_variant LIRI-JP 22 35699333 35699333 single base substitution T A intron_variant LIRI-JP 22 35699820 35699820 single base substitution T G intron_variant LIRI-JP 22 35699841 35699841 single base substitution T C intron_variant LIRI-JP 22 35700445 35700445 single base substitution C T intron_variant LIRI-JP 22 35702099 35702099 single base substitution G A intron_variant LIRI-JP 22 35702099 35702099 single base substitution G A upstream_gene_variant LIRI-JP 22 35703387 35703387 single base substitution T G intron_variant LIRI-JP 22 35703387 35703387 single base substitution T G upstream_gene_variant LIRI-JP 22 35704631 35704631 single base substitution A G intron_variant LIRI-JP 22 35704631 35704631 single base substitution A G upstream_gene_variant LIRI-JP 22 35705305 35705305 single base substitution C A intron_variant LIRI-JP 22 35705305 35705305 single base substitution C A upstream_gene_variant LIRI-JP 22 35708439 35708439 single base substitution T A intron_variant LIRI-JP 22 35709364 35709364 single base substitution A G intron_variant LIRI-JP 22 35710963 35710963 single base substitution A G intron_variant LIRI-JP 22 35714104 35714104 single base substitution T A exon_variant LIRI-JP 22 35714104 35714104 single base substitution T A intron_variant LIRI-JP 22 35715704 35715704 single base substitution G A downstream_gene_variant LIRI-JP 22 35715704 35715704 single base substitution G A intron_variant LIRI-JP 22 35715704 35715704 single base substitution G A upstream_gene_variant LIRI-JP 22 35715867 35715867 single base substitution G A downstream_gene_variant LIRI-JP 22 35715867 35715867 single base substitution G A intron_variant LIRI-JP 22 35715867 35715867 single base substitution G A upstream_gene_variant LIRI-JP 22 35717331 35717331 single base substitution C A downstream_gene_variant LIRI-JP 22 35717331 35717331 single base substitution C A intron_variant LIRI-JP 22 35717331 35717331 single base substitution C A upstream_gene_variant LIRI-JP 22 35719932 35719932 single base substitution G C downstream_gene_variant LIRI-JP 22 35719932 35719932 single base substitution G C intron_variant LIRI-JP 22 35722121 35722121 single base substitution A G downstream_gene_variant LIRI-JP 22 35722121 35722121 single base substitution A G intron_variant LIRI-JP 22 35724931 35724931 single base substitution C A downstream_gene_variant LIRI-JP 22 35724931 35724931 single base substitution C A intron_variant LIRI-JP 22 35725310 35725310 single base substitution T G downstream_gene_variant LIRI-JP 22 35725310 35725310 single base substitution T G intron_variant LIRI-JP 22 35725485 35725485 single base substitution T C downstream_gene_variant LIRI-JP 22 35725485 35725485 single base substitution T C intron_variant LIRI-JP 22 35734330 35734330 single base substitution C T downstream_gene_variant LIRI-JP 22 35734330 35734330 single base substitution C T intron_variant LIRI-JP 22 35738280 35738280 single base substitution C T downstream_gene_variant LIRI-JP 22 35738280 35738280 single base substitution C T intron_variant LIRI-JP 22 35738280 35738280 single base substitution C T upstream_gene_variant LIRI-JP 22 35740607 35740607 single base substitution C T exon_variant LIRI-JP 22 35740607 35740607 single base substitution C T intron_variant LIRI-JP 22 35745327 35745327 single base substitution A G downstream_gene_variant LIRI-JP 22 35748814 35748814 single base substitution G A downstream_gene_variant LUSC-KR 22 35706283 35706283 single base substitution C A intron_variant LUSC-KR 22 35706283 35706283 single base substitution C A upstream_gene_variant LUSC-KR 22 35709911 35709911 single base substitution G A intron_variant LUSC-KR 22 35716993 35716993 single base substitution A G downstream_gene_variant LUSC-KR 22 35716993 35716993 single base substitution A G intron_variant LUSC-KR 22 35716993 35716993 single base substitution A G upstream_gene_variant LUSC-KR 22 35719363 35719363 single base substitution C T downstream_gene_variant LUSC-KR 22 35719363 35719363 single base substitution C T exon_variant LUSC-KR 22 35719363 35719363 single base substitution C T intron_variant LUSC-KR 22 35719363 35719363 single base substitution C T upstream_gene_variant LUSC-KR 22 35730877 35730877 single base substitution G A downstream_gene_variant LUSC-KR 22 35730877 35730877 single base substitution G A intron_variant LUSC-KR 22 35736641 35736641 single base substitution G A downstream_gene_variant LUSC-KR 22 35736641 35736641 single base substitution G A intron_variant LUSC-KR 22 35736641 35736641 single base substitution G A upstream_gene_variant LUSC-KR 22 35741618 35741618 single base substitution T G exon_variant LUSC-KR 22 35741618 35741618 single base substitution T G intron_variant LUSC-US 22 35713920 35713920 single base substitution G C 5_prime_UTR_variant LUSC-US 22 35713920 35713920 single base substitution G C exon_variant LUSC-US 22 35713920 35713920 single base substitution G C intron_variant LUSC-US 22 35713920 35713920 single base substitution G C missense_variant E2Q 4G>C LUSC-US 22 35713920 35713920 single base substitution G C missense_variant E35Q 103G>C LUSC-US 22 35713920 35713920 single base substitution G C missense_variant W13C 39G>C LUSC-US 22 35723368 35723368 single base substitution G T 3_prime_UTR_variant LUSC-US 22 35723368 35723368 single base substitution G T downstream_gene_variant LUSC-US 22 35723368 35723368 single base substitution G T exon_variant LUSC-US 22 35723368 35723368 single base substitution G T synonymous_variant L184L 552G>T LUSC-US 22 35723368 35723368 single base substitution G T synonymous_variant L206L 618G>T LUSC-US 22 35723368 35723368 single base substitution G T synonymous_variant L213L 639G>T LUSC-US 22 35723368 35723368 single base substitution G T synonymous_variant L218L 654G>T LUSC-US 22 35723368 35723368 single base substitution G T synonymous_variant L245L 735G>T LUSC-US 22 35723368 35723368 single base substitution G T synonymous_variant L251L 753G>T LUSC-US 22 35741772 35741772 single base substitution G T 3_prime_UTR_variant LUSC-US 22 35741772 35741772 single base substitution G T exon_variant LUSC-US 22 35741772 35741772 single base substitution G T missense_variant D382Y 1144G>T LUSC-US 22 35741772 35741772 single base substitution G T missense_variant D389Y 1165G>T LUSC-US 22 35741772 35741772 single base substitution G T missense_variant D394Y 1180G>T LUSC-US 22 35741772 35741772 single base substitution G T missense_variant D427Y 1279G>T MALY-DE 22 35700301 35700301 single base substitution G A intron_variant MALY-DE 22 35700992 35700992 single base substitution C A intron_variant MALY-DE 22 35701016 35701016 single base substitution T A intron_variant MALY-DE 22 35704835 35704835 single base substitution G A intron_variant MALY-DE 22 35704835 35704835 single base substitution G A upstream_gene_variant MALY-DE 22 35710400 35710400 single base substitution G A intron_variant MALY-DE 22 35717056 35717056 single base substitution A C downstream_gene_variant MALY-DE 22 35717056 35717056 single base substitution A C intron_variant MALY-DE 22 35717056 35717056 single base substitution A C upstream_gene_variant MALY-DE 22 35732712 35732712 single base substitution C T downstream_gene_variant MALY-DE 22 35732712 35732712 single base substitution C T intron_variant MALY-DE 22 35738786 35738786 single base substitution C A downstream_gene_variant MALY-DE 22 35738786 35738786 single base substitution C A intron_variant MALY-DE 22 35738786 35738786 single base substitution C A upstream_gene_variant MALY-DE 22 35738957 35738959 deletion of <=200bp CAC - downstream_gene_variant MALY-DE 22 35738957 35738959 deletion of <=200bp CAC - intron_variant MALY-DE 22 35738957 35738959 deletion of <=200bp CAC - upstream_gene_variant MALY-DE 22 35744799 35744799 single base substitution C T downstream_gene_variant MELA-AU 22 35690676 35690676 single base substitution C T upstream_gene_variant MELA-AU 22 35690810 35690810 single base substitution C T upstream_gene_variant MELA-AU 22 35690959 35690959 single base substitution T G upstream_gene_variant MELA-AU 22 35691686 35691686 single base substitution T A upstream_gene_variant MELA-AU 22 35691884 35691884 single base substitution C T upstream_gene_variant MELA-AU 22 35692539 35692539 single base substitution C T upstream_gene_variant MELA-AU 22 35692545 35692545 single base substitution A T upstream_gene_variant MELA-AU 22 35693776 35693776 single base substitution G A upstream_gene_variant MELA-AU 22 35693839 35693839 single base substitution T G upstream_gene_variant MELA-AU 22 35694087 35694087 single base substitution C T upstream_gene_variant MELA-AU 22 35694734 35694734 single base substitution G A upstream_gene_variant MELA-AU 22 35694842 35694842 single base substitution G T upstream_gene_variant MELA-AU 22 35694977 35694977 single base substitution G A upstream_gene_variant MELA-AU 22 35695792 35695792 single base substitution C T intron_variant MELA-AU 22 35695792 35695792 single base substitution C T upstream_gene_variant MELA-AU 22 35696026 35696026 single base substitution C T intron_variant MELA-AU 22 35696113 35696113 single base substitution C T intron_variant MELA-AU 22 35696125 35696125 single base substitution C T intron_variant MELA-AU 22 35696356 35696356 single base substitution C A intron_variant MELA-AU 22 35696726 35696726 single base substitution G A intron_variant MELA-AU 22 35697428 35697428 single base substitution G A intron_variant MELA-AU 22 35697430 35697430 single base substitution G A intron_variant MELA-AU 22 35698681 35698681 single base substitution C T intron_variant MELA-AU 22 35699340 35699340 single base substitution C T intron_variant MELA-AU 22 35699415 35699415 single base substitution C T intron_variant MELA-AU 22 35700563 35700564 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 35700716 35700716 single base substitution C T intron_variant MELA-AU 22 35701278 35701278 single base substitution C T intron_variant MELA-AU 22 35701590 35701590 single base substitution T C intron_variant MELA-AU 22 35701838 35701838 single base substitution G T intron_variant MELA-AU 22 35702103 35702103 single base substitution T G intron_variant MELA-AU 22 35702103 35702103 single base substitution T G upstream_gene_variant MELA-AU 22 35702148 35702148 deletion of <=200bp C - intron_variant MELA-AU 22 35702148 35702148 deletion of <=200bp C - upstream_gene_variant MELA-AU 22 35702353 35702353 single base substitution C T intron_variant MELA-AU 22 35702353 35702353 single base substitution C T upstream_gene_variant MELA-AU 22 35703292 35703292 single base substitution C T intron_variant MELA-AU 22 35703292 35703292 single base substitution C T upstream_gene_variant MELA-AU 22 35703694 35703694 single base substitution C T intron_variant MELA-AU 22 35703694 35703694 single base substitution C T upstream_gene_variant MELA-AU 22 35703799 35703799 single base substitution C T intron_variant MELA-AU 22 35703799 35703799 single base substitution C T upstream_gene_variant MELA-AU 22 35704848 35704848 single base substitution C T intron_variant MELA-AU 22 35704848 35704848 single base substitution C T upstream_gene_variant MELA-AU 22 35706017 35706017 single base substitution G A intron_variant MELA-AU 22 35706017 35706017 single base substitution G A upstream_gene_variant MELA-AU 22 35707654 35707654 deletion of <=200bp T - intron_variant MELA-AU 22 35707949 35707949 single base substitution G A intron_variant MELA-AU 22 35708230 35708230 single base substitution C T intron_variant MELA-AU 22 35710324 35710324 single base substitution C T intron_variant MELA-AU 22 35711105 35711105 single base substitution G A intron_variant MELA-AU 22 35711619 35711619 single base substitution C T intron_variant MELA-AU 22 35711808 35711808 single base substitution C T intron_variant MELA-AU 22 35711811 35711811 single base substitution C T intron_variant MELA-AU 22 35712078 35712078 single base substitution C T intron_variant MELA-AU 22 35712431 35712431 single base substitution C T intron_variant MELA-AU 22 35712529 35712529 single base substitution C T intron_variant MELA-AU 22 35712608 35712608 single base substitution T A intron_variant MELA-AU 22 35713429 35713429 single base substitution C T intron_variant MELA-AU 22 35713500 35713500 single base substitution C T intron_variant MELA-AU 22 35713801 35713801 single base substitution C T intron_variant MELA-AU 22 35714469 35714469 single base substitution C T downstream_gene_variant MELA-AU 22 35714469 35714469 single base substitution C T intron_variant MELA-AU 22 35714469 35714469 single base substitution C T upstream_gene_variant MELA-AU 22 35715654 35715654 single base substitution C T downstream_gene_variant MELA-AU 22 35715654 35715654 single base substitution C T intron_variant MELA-AU 22 35715654 35715654 single base substitution C T upstream_gene_variant MELA-AU 22 35715744 35715744 single base substitution G C downstream_gene_variant MELA-AU 22 35715744 35715744 single base substitution G C intron_variant MELA-AU 22 35715744 35715744 single base substitution G C upstream_gene_variant MELA-AU 22 35716586 35716586 single base substitution C T downstream_gene_variant MELA-AU 22 35716586 35716586 single base substitution C T intron_variant MELA-AU 22 35716586 35716586 single base substitution C T upstream_gene_variant MELA-AU 22 35716786 35716786 single base substitution A C downstream_gene_variant MELA-AU 22 35716786 35716786 single base substitution A C intron_variant MELA-AU 22 35716786 35716786 single base substitution A C upstream_gene_variant MELA-AU 22 35717239 35717239 single base substitution G A downstream_gene_variant MELA-AU 22 35717239 35717239 single base substitution G A intron_variant MELA-AU 22 35717239 35717239 single base substitution G A upstream_gene_variant MELA-AU 22 35717415 35717415 single base substitution C T downstream_gene_variant MELA-AU 22 35717415 35717415 single base substitution C T intron_variant MELA-AU 22 35717415 35717415 single base substitution C T upstream_gene_variant MELA-AU 22 35717877 35717877 single base substitution C T downstream_gene_variant MELA-AU 22 35717877 35717877 single base substitution C T intron_variant MELA-AU 22 35717877 35717877 single base substitution C T upstream_gene_variant MELA-AU 22 35717904 35717904 single base substitution G A downstream_gene_variant MELA-AU 22 35717904 35717904 single base substitution G A intron_variant MELA-AU 22 35717904 35717904 single base substitution G A upstream_gene_variant MELA-AU 22 35718044 35718044 single base substitution C T downstream_gene_variant MELA-AU 22 35718044 35718044 single base substitution C T exon_variant MELA-AU 22 35718044 35718044 single base substitution C T intron_variant MELA-AU 22 35718044 35718044 single base substitution C T upstream_gene_variant MELA-AU 22 35718287 35718287 single base substitution G T downstream_gene_variant MELA-AU 22 35718287 35718287 single base substitution G T exon_variant MELA-AU 22 35718287 35718287 single base substitution G T intron_variant MELA-AU 22 35718287 35718287 single base substitution G T upstream_gene_variant MELA-AU 22 35718491 35718491 single base substitution C T downstream_gene_variant MELA-AU 22 35718491 35718491 single base substitution C T exon_variant MELA-AU 22 35718491 35718491 single base substitution C T intron_variant MELA-AU 22 35718491 35718491 single base substitution C T upstream_gene_variant MELA-AU 22 35718692 35718693 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 22 35718692 35718693 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 35718692 35718693 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 22 35719032 35719032 single base substitution C T 3_prime_UTR_variant MELA-AU 22 35719032 35719032 single base substitution C T downstream_gene_variant MELA-AU 22 35719032 35719032 single base substitution C T exon_variant MELA-AU 22 35719032 35719032 single base substitution C T synonymous_variant T38T 114C>T MELA-AU 22 35719032 35719032 single base substitution C T synonymous_variant T43T 129C>T MELA-AU 22 35719032 35719032 single base substitution C T synonymous_variant T70T 210C>T MELA-AU 22 35719032 35719032 single base substitution C T synonymous_variant T76T 228C>T MELA-AU 22 35719032 35719032 single base substitution C T synonymous_variant T9T 27C>T MELA-AU 22 35719032 35719032 single base substitution C T upstream_gene_variant MELA-AU 22 35719514 35719514 single base substitution C T 3_prime_UTR_variant MELA-AU 22 35719514 35719514 single base substitution C T downstream_gene_variant MELA-AU 22 35719514 35719514 single base substitution C T exon_variant MELA-AU 22 35719514 35719514 single base substitution C T intron_variant MELA-AU 22 35719514 35719514 single base substitution C T missense_variant S125L 374C>T MELA-AU 22 35719514 35719514 single base substitution C T missense_variant S131L 392C>T MELA-AU 22 35719514 35719514 single base substitution C T missense_variant S64L 191C>T MELA-AU 22 35719514 35719514 single base substitution C T missense_variant S93L 278C>T MELA-AU 22 35719514 35719514 single base substitution C T missense_variant S98L 293C>T MELA-AU 22 35719514 35719514 single base substitution C T splice_region_variant MELA-AU 22 35719514 35719514 single base substitution C T upstream_gene_variant MELA-AU 22 35719576 35719576 single base substitution C T 3_prime_UTR_variant MELA-AU 22 35719576 35719576 single base substitution C T downstream_gene_variant MELA-AU 22 35719576 35719576 single base substitution C T exon_variant MELA-AU 22 35719576 35719576 single base substitution C T intron_variant MELA-AU 22 35719576 35719576 single base substitution C T missense_variant P114S 340C>T MELA-AU 22 35719576 35719576 single base substitution C T missense_variant P119S 355C>T MELA-AU 22 35719576 35719576 single base substitution C T missense_variant P146S 436C>T MELA-AU 22 35719576 35719576 single base substitution C T missense_variant P152S 454C>T MELA-AU 22 35719576 35719576 single base substitution C T missense_variant P85S 253C>T MELA-AU 22 35719576 35719576 single base substitution C T upstream_gene_variant MELA-AU 22 35720693 35720693 single base substitution C T downstream_gene_variant MELA-AU 22 35720693 35720693 single base substitution C T intron_variant MELA-AU 22 35720955 35720955 single base substitution C T downstream_gene_variant MELA-AU 22 35720955 35720955 single base substitution C T intron_variant MELA-AU 22 35721338 35721338 single base substitution T C downstream_gene_variant MELA-AU 22 35721338 35721338 single base substitution T C intron_variant MELA-AU 22 35721433 35721433 single base substitution C T downstream_gene_variant MELA-AU 22 35721433 35721433 single base substitution C T intron_variant MELA-AU 22 35721524 35721524 single base substitution C T downstream_gene_variant MELA-AU 22 35721524 35721524 single base substitution C T intron_variant MELA-AU 22 35721898 35721898 single base substitution C T downstream_gene_variant MELA-AU 22 35721898 35721898 single base substitution C T intron_variant MELA-AU 22 35722135 35722135 single base substitution T A downstream_gene_variant MELA-AU 22 35722135 35722135 single base substitution T A intron_variant MELA-AU 22 35722372 35722372 single base substitution C T downstream_gene_variant MELA-AU 22 35722372 35722372 single base substitution C T intron_variant MELA-AU 22 35722723 35722723 single base substitution C T downstream_gene_variant MELA-AU 22 35722723 35722723 single base substitution C T intron_variant MELA-AU 22 35723487 35723487 single base substitution C T downstream_gene_variant MELA-AU 22 35723487 35723487 single base substitution C T intron_variant MELA-AU 22 35723972 35723972 single base substitution C T downstream_gene_variant MELA-AU 22 35723972 35723972 single base substitution C T intron_variant MELA-AU 22 35724390 35724390 single base substitution G A downstream_gene_variant MELA-AU 22 35724390 35724390 single base substitution G A intron_variant MELA-AU 22 35726039 35726039 single base substitution G A downstream_gene_variant MELA-AU 22 35726039 35726039 single base substitution G A intron_variant MELA-AU 22 35726651 35726651 single base substitution C T downstream_gene_variant MELA-AU 22 35726651 35726651 single base substitution C T intron_variant MELA-AU 22 35727860 35727860 single base substitution G T downstream_gene_variant MELA-AU 22 35727860 35727860 single base substitution G T intron_variant MELA-AU 22 35728963 35728963 single base substitution C T intron_variant MELA-AU 22 35729433 35729433 single base substitution G A 3_prime_UTR_variant MELA-AU 22 35729433 35729433 single base substitution G A exon_variant MELA-AU 22 35729433 35729433 single base substitution G A missense_variant D279N 835G>A MELA-AU 22 35729433 35729433 single base substitution G A missense_variant D286N 856G>A MELA-AU 22 35729433 35729433 single base substitution G A missense_variant D291N 871G>A MELA-AU 22 35729433 35729433 single base substitution G A missense_variant D318N 952G>A MELA-AU 22 35729433 35729433 single base substitution G A missense_variant D324N 970G>A MELA-AU 22 35729441 35729442 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 22 35729441 35729442 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 22 35729441 35729442 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant GP281GS MELA-AU 22 35729441 35729442 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant GP288GS MELA-AU 22 35729441 35729442 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant GP293GS MELA-AU 22 35729441 35729442 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant GP320GS MELA-AU 22 35729441 35729442 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant GP326GS MELA-AU 22 35729791 35729791 single base substitution C T downstream_gene_variant MELA-AU 22 35729791 35729791 single base substitution C T intron_variant MELA-AU 22 35731305 35731305 single base substitution A G downstream_gene_variant MELA-AU 22 35731305 35731305 single base substitution A G intron_variant MELA-AU 22 35732974 35732974 single base substitution C T downstream_gene_variant MELA-AU 22 35732974 35732974 single base substitution C T intron_variant MELA-AU 22 35733268 35733268 single base substitution C T downstream_gene_variant MELA-AU 22 35733268 35733268 single base substitution C T intron_variant MELA-AU 22 35733533 35733533 single base substitution C T downstream_gene_variant MELA-AU 22 35733533 35733533 single base substitution C T intron_variant MELA-AU 22 35733760 35733760 single base substitution T C downstream_gene_variant MELA-AU 22 35733760 35733760 single base substitution T C intron_variant MELA-AU 22 35733872 35733872 single base substitution C T downstream_gene_variant MELA-AU 22 35733872 35733872 single base substitution C T intron_variant MELA-AU 22 35733954 35733954 single base substitution C T downstream_gene_variant MELA-AU 22 35733954 35733954 single base substitution C T intron_variant MELA-AU 22 35734124 35734124 single base substitution C T downstream_gene_variant MELA-AU 22 35734124 35734124 single base substitution C T intron_variant MELA-AU 22 35734618 35734618 single base substitution C T intron_variant MELA-AU 22 35736179 35736179 single base substitution C T downstream_gene_variant MELA-AU 22 35736179 35736179 single base substitution C T intron_variant MELA-AU 22 35736179 35736179 single base substitution C T upstream_gene_variant MELA-AU 22 35736870 35736871 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 22 35736870 35736871 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 35736870 35736871 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 22 35737604 35737604 single base substitution T G downstream_gene_variant MELA-AU 22 35737604 35737604 single base substitution T G intron_variant MELA-AU 22 35737604 35737604 single base substitution T G upstream_gene_variant MELA-AU 22 35737728 35737728 single base substitution C T downstream_gene_variant MELA-AU 22 35737728 35737728 single base substitution C T intron_variant MELA-AU 22 35737728 35737728 single base substitution C T upstream_gene_variant MELA-AU 22 35738485 35738485 single base substitution G A downstream_gene_variant MELA-AU 22 35738485 35738485 single base substitution G A intron_variant MELA-AU 22 35738485 35738485 single base substitution G A upstream_gene_variant MELA-AU 22 35738513 35738513 single base substitution C T downstream_gene_variant MELA-AU 22 35738513 35738513 single base substitution C T intron_variant MELA-AU 22 35738513 35738513 single base substitution C T upstream_gene_variant MELA-AU 22 35738553 35738553 single base substitution C T downstream_gene_variant MELA-AU 22 35738553 35738553 single base substitution C T intron_variant MELA-AU 22 35738553 35738553 single base substitution C T upstream_gene_variant MELA-AU 22 35738735 35738735 single base substitution C T downstream_gene_variant MELA-AU 22 35738735 35738735 single base substitution C T intron_variant MELA-AU 22 35738735 35738735 single base substitution C T upstream_gene_variant MELA-AU 22 35739862 35739862 single base substitution C T intron_variant MELA-AU 22 35739862 35739862 single base substitution C T upstream_gene_variant MELA-AU 22 35740433 35740433 single base substitution C T exon_variant MELA-AU 22 35740433 35740433 single base substitution C T intron_variant MELA-AU 22 35740472 35740472 single base substitution C T exon_variant MELA-AU 22 35740472 35740472 single base substitution C T intron_variant MELA-AU 22 35741033 35741033 single base substitution C T exon_variant MELA-AU 22 35741033 35741033 single base substitution C T intron_variant MELA-AU 22 35741216 35741216 single base substitution C T exon_variant MELA-AU 22 35741216 35741216 single base substitution C T intron_variant MELA-AU 22 35741263 35741263 single base substitution C T exon_variant MELA-AU 22 35741263 35741263 single base substitution C T intron_variant MELA-AU 22 35741283 35741283 single base substitution C T exon_variant MELA-AU 22 35741283 35741283 single base substitution C T intron_variant MELA-AU 22 35741407 35741407 single base substitution C T exon_variant MELA-AU 22 35741407 35741407 single base substitution C T intron_variant MELA-AU 22 35741915 35741915 single base substitution C T intron_variant MELA-AU 22 35742293 35742293 single base substitution C T intron_variant MELA-AU 22 35742465 35742474 deletion of <=200bp TCCCTAGTTT - intron_variant MELA-AU 22 35742680 35742681 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 35743146 35743146 single base substitution C T 3_prime_UTR_variant MELA-AU 22 35743146 35743146 single base substitution C T exon_variant MELA-AU 22 35743146 35743146 single base substitution C T missense_variant P430S 1288C>T MELA-AU 22 35743146 35743146 single base substitution C T missense_variant P437S 1309C>T MELA-AU 22 35743146 35743146 single base substitution C T missense_variant P443S 1327C>T MELA-AU 22 35743146 35743146 single base substitution C T missense_variant P475S 1423C>T MELA-AU 22 35743146 35743146 single base substitution C T missense_variant P476S 1426C>T MELA-AU 22 35743852 35743852 single base substitution C T 3_prime_UTR_variant MELA-AU 22 35743852 35743852 single base substitution C T downstream_gene_variant MELA-AU 22 35743852 35743852 single base substitution C T exon_variant MELA-AU 22 35744952 35744952 single base substitution G T downstream_gene_variant MELA-AU 22 35745515 35745515 single base substitution T C downstream_gene_variant MELA-AU 22 35746193 35746193 single base substitution G A downstream_gene_variant MELA-AU 22 35746235 35746235 single base substitution C T downstream_gene_variant MELA-AU 22 35746733 35746733 single base substitution C T downstream_gene_variant MELA-AU 22 35746788 35746788 single base substitution C T downstream_gene_variant MELA-AU 22 35747115 35747115 single base substitution G A downstream_gene_variant MELA-AU 22 35747750 35747750 single base substitution C T downstream_gene_variant MELA-AU 22 35747984 35747984 single base substitution C A downstream_gene_variant MELA-AU 22 35748219 35748219 single base substitution C T downstream_gene_variant MELA-AU 22 35748365 35748365 single base substitution C T downstream_gene_variant MELA-AU 22 35748396 35748396 single base substitution G A downstream_gene_variant MELA-AU 22 35748553 35748553 single base substitution G A downstream_gene_variant MELA-AU 22 35748646 35748647 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 22 35748839 35748839 single base substitution C T downstream_gene_variant ORCA-IN 22 35721551 35721551 single base substitution C G downstream_gene_variant ORCA-IN 22 35721551 35721551 single base substitution C G intron_variant ORCA-IN 22 35727279 35727279 deletion of <=200bp C - downstream_gene_variant ORCA-IN 22 35727279 35727279 deletion of <=200bp C - intron_variant ORCA-IN 22 35746985 35746985 single base substitution G A downstream_gene_variant OV-AU 22 35691367 35691367 single base substitution A T upstream_gene_variant OV-AU 22 35698655 35698655 single base substitution A G intron_variant OV-AU 22 35708502 35708502 single base substitution C A intron_variant OV-AU 22 35712805 35712805 single base substitution C G intron_variant OV-AU 22 35713479 35713479 single base substitution C T intron_variant OV-AU 22 35714476 35714476 single base substitution G C downstream_gene_variant OV-AU 22 35714476 35714476 single base substitution G C intron_variant OV-AU 22 35714476 35714476 single base substitution G C upstream_gene_variant OV-AU 22 35715852 35715852 single base substitution G T downstream_gene_variant OV-AU 22 35715852 35715852 single base substitution G T intron_variant OV-AU 22 35715852 35715852 single base substitution G T upstream_gene_variant OV-AU 22 35717327 35717327 single base substitution G A downstream_gene_variant OV-AU 22 35717327 35717327 single base substitution G A intron_variant OV-AU 22 35717327 35717327 single base substitution G A upstream_gene_variant OV-AU 22 35725626 35725626 single base substitution T C downstream_gene_variant OV-AU 22 35725626 35725626 single base substitution T C intron_variant OV-AU 22 35725627 35725627 single base substitution G T downstream_gene_variant OV-AU 22 35725627 35725627 single base substitution G T intron_variant OV-AU 22 35728993 35728993 single base substitution G A 3_prime_UTR_variant OV-AU 22 35728993 35728993 single base substitution G A exon_variant OV-AU 22 35728993 35728993 single base substitution G A missense_variant G262S 784G>A OV-AU 22 35728993 35728993 single base substitution G A missense_variant G269S 805G>A OV-AU 22 35728993 35728993 single base substitution G A missense_variant G274S 820G>A OV-AU 22 35728993 35728993 single base substitution G A missense_variant G301S 901G>A OV-AU 22 35728993 35728993 single base substitution G A missense_variant G307S 919G>A OV-AU 22 35730664 35730664 single base substitution A T downstream_gene_variant OV-AU 22 35730664 35730664 single base substitution A T intron_variant OV-AU 22 35737489 35737489 single base substitution T A downstream_gene_variant OV-AU 22 35737489 35737489 single base substitution T A intron_variant OV-AU 22 35737489 35737489 single base substitution T A upstream_gene_variant OV-AU 22 35739766 35739766 single base substitution A C downstream_gene_variant OV-AU 22 35739766 35739766 single base substitution A C intron_variant OV-AU 22 35739766 35739766 single base substitution A C upstream_gene_variant OV-AU 22 35743463 35743463 single base substitution G C 3_prime_UTR_variant OV-AU 22 35743463 35743463 single base substitution G C exon_variant OV-AU 22 35747305 35747305 single base substitution G A downstream_gene_variant PACA-AU 22 35691208 35691208 single base substitution C T upstream_gene_variant PACA-AU 22 35693839 35693839 single base substitution T G upstream_gene_variant PACA-AU 22 35693840 35693840 single base substitution T G upstream_gene_variant PACA-AU 22 35695145 35695145 single base substitution T A upstream_gene_variant PACA-AU 22 35700944 35700944 single base substitution G A intron_variant PACA-AU 22 35702529 35702529 insertion of <=200bp - G intron_variant PACA-AU 22 35702529 35702529 insertion of <=200bp - G upstream_gene_variant PACA-AU 22 35702974 35702974 single base substitution G A intron_variant PACA-AU 22 35702974 35702974 single base substitution G A upstream_gene_variant PACA-AU 22 35711942 35711942 single base substitution G A intron_variant PACA-AU 22 35714891 35714891 single base substitution C T downstream_gene_variant PACA-AU 22 35714891 35714891 single base substitution C T intron_variant PACA-AU 22 35714891 35714891 single base substitution C T upstream_gene_variant PACA-AU 22 35715298 35715298 single base substitution C T downstream_gene_variant PACA-AU 22 35715298 35715298 single base substitution C T intron_variant PACA-AU 22 35715298 35715298 single base substitution C T upstream_gene_variant PACA-AU 22 35716021 35716021 single base substitution C T downstream_gene_variant PACA-AU 22 35716021 35716021 single base substitution C T intron_variant PACA-AU 22 35716021 35716021 single base substitution C T upstream_gene_variant PACA-AU 22 35723918 35723918 single base substitution T C downstream_gene_variant PACA-AU 22 35723918 35723918 single base substitution T C intron_variant PACA-AU 22 35726076 35726076 single base substitution C T downstream_gene_variant PACA-AU 22 35726076 35726076 single base substitution C T intron_variant PACA-AU 22 35726171 35726171 single base substitution G T downstream_gene_variant PACA-AU 22 35726171 35726171 single base substitution G T intron_variant PACA-AU 22 35729552 35729552 single base substitution G A downstream_gene_variant PACA-AU 22 35729552 35729552 single base substitution G A intron_variant PACA-AU 22 35733622 35733622 single base substitution C G downstream_gene_variant PACA-AU 22 35733622 35733622 single base substitution C G intron_variant PACA-AU 22 35734642 35734642 single base substitution G A intron_variant PACA-AU 22 35738934 35738934 single base substitution A G downstream_gene_variant PACA-AU 22 35738934 35738934 single base substitution A G intron_variant PACA-AU 22 35738934 35738934 single base substitution A G upstream_gene_variant PACA-AU 22 35739761 35739761 single base substitution T C downstream_gene_variant PACA-AU 22 35739761 35739761 single base substitution T C intron_variant PACA-AU 22 35739761 35739761 single base substitution T C upstream_gene_variant PACA-AU 22 35739766 35739766 single base substitution A C downstream_gene_variant PACA-AU 22 35739766 35739766 single base substitution A C intron_variant PACA-AU 22 35739766 35739766 single base substitution A C upstream_gene_variant PACA-AU 22 35742151 35742151 single base substitution T A intron_variant PACA-AU 22 35745767 35745767 single base substitution G A downstream_gene_variant PACA-CA 22 35692445 35692445 single base substitution G T upstream_gene_variant PACA-CA 22 35706092 35706092 single base substitution G A intron_variant PACA-CA 22 35706092 35706092 single base substitution G A upstream_gene_variant PACA-CA 22 35707765 35707765 single base substitution G C intron_variant PACA-CA 22 35708892 35708892 single base substitution A G intron_variant PACA-CA 22 35713796 35713796 single base substitution C T intron_variant PACA-CA 22 35717320 35717320 single base substitution G A downstream_gene_variant PACA-CA 22 35717320 35717320 single base substitution G A intron_variant PACA-CA 22 35717320 35717320 single base substitution G A upstream_gene_variant PACA-CA 22 35717351 35717351 single base substitution T A downstream_gene_variant PACA-CA 22 35717351 35717351 single base substitution T A intron_variant PACA-CA 22 35717351 35717351 single base substitution T A upstream_gene_variant PACA-CA 22 35717532 35717532 single base substitution C T downstream_gene_variant PACA-CA 22 35717532 35717532 single base substitution C T intron_variant PACA-CA 22 35717532 35717532 single base substitution C T upstream_gene_variant PACA-CA 22 35723156 35723156 single base substitution G A downstream_gene_variant PACA-CA 22 35723156 35723156 single base substitution G A intron_variant PACA-CA 22 35725196 35725196 single base substitution G A downstream_gene_variant PACA-CA 22 35725196 35725196 single base substitution G A intron_variant PACA-CA 22 35729540 35729540 single base substitution G T downstream_gene_variant PACA-CA 22 35729540 35729540 single base substitution G T intron_variant PACA-CA 22 35737513 35737513 single base substitution C A downstream_gene_variant PACA-CA 22 35737513 35737513 single base substitution C A intron_variant PACA-CA 22 35737513 35737513 single base substitution C A upstream_gene_variant PACA-CA 22 35741944 35741944 single base substitution C T intron_variant PACA-CA 22 35743862 35743862 single base substitution C T 3_prime_UTR_variant PACA-CA 22 35743862 35743862 single base substitution C T downstream_gene_variant PACA-CA 22 35743862 35743862 single base substitution C T exon_variant PACA-CA 22 35748490 35748490 single base substitution A G downstream_gene_variant PAEN-AU 22 35748307 35748307 single base substitution C G downstream_gene_variant PBCA-DE 22 35693821 35693821 insertion of <=200bp - T upstream_gene_variant PBCA-DE 22 35694796 35694796 single base substitution A G upstream_gene_variant PBCA-DE 22 35700482 35700482 insertion of <=200bp - T intron_variant PBCA-DE 22 35713326 35713329 deletion of <=200bp GCAT - intron_variant PBCA-DE 22 35713333 35713333 insertion of <=200bp - C intron_variant PBCA-DE 22 35723954 35723954 single base substitution G A downstream_gene_variant PBCA-DE 22 35723954 35723954 single base substitution G A intron_variant PBCA-DE 22 35725724 35725724 insertion of <=200bp - T downstream_gene_variant PBCA-DE 22 35725724 35725724 insertion of <=200bp - T intron_variant PBCA-DE 22 35729028 35729028 single base substitution G A intron_variant PBCA-DE 22 35733496 35733496 single base substitution C T downstream_gene_variant PBCA-DE 22 35733496 35733496 single base substitution C T intron_variant PBCA-DE 22 35736812 35736812 single base substitution C T downstream_gene_variant PBCA-DE 22 35736812 35736812 single base substitution C T intron_variant PBCA-DE 22 35736812 35736812 single base substitution C T upstream_gene_variant PBCA-DE 22 35739100 35739100 insertion of <=200bp - T downstream_gene_variant PBCA-DE 22 35739100 35739100 insertion of <=200bp - T intron_variant PBCA-DE 22 35739100 35739100 insertion of <=200bp - T upstream_gene_variant PBCA-DE 22 35742963 35742963 single base substitution G A missense_variant G409D 1226G>A PBCA-DE 22 35742963 35742963 single base substitution G A missense_variant G442D 1325G>A PBCA-DE 22 35742963 35742963 single base substitution G A splice_donor_variant PBCA-DE 22 35744958 35744958 single base substitution A G downstream_gene_variant PBCA-DE 22 35748698 35748698 single base substitution G C downstream_gene_variant PRAD-CA 22 35695092 35695092 single base substitution C T upstream_gene_variant PRAD-CA 22 35696196 35696196 single base substitution G C intron_variant PRAD-CA 22 35701514 35701514 single base substitution G T intron_variant PRAD-CA 22 35704284 35704284 single base substitution C T intron_variant PRAD-CA 22 35704284 35704284 single base substitution C T upstream_gene_variant PRAD-CA 22 35711995 35711995 single base substitution C G intron_variant PRAD-CA 22 35714605 35714605 single base substitution G A downstream_gene_variant PRAD-CA 22 35714605 35714605 single base substitution G A intron_variant PRAD-CA 22 35714605 35714605 single base substitution G A upstream_gene_variant PRAD-CA 22 35724418 35724418 single base substitution G A downstream_gene_variant PRAD-CA 22 35724418 35724418 single base substitution G A intron_variant PRAD-CA 22 35746331 35746331 single base substitution G T downstream_gene_variant PRAD-UK 22 35693632 35693632 single base substitution T C upstream_gene_variant PRAD-UK 22 35699832 35699832 single base substitution G A intron_variant PRAD-UK 22 35700528 35700528 single base substitution G A intron_variant PRAD-UK 22 35705284 35705284 single base substitution G A intron_variant PRAD-UK 22 35705284 35705284 single base substitution G A upstream_gene_variant PRAD-UK 22 35710721 35710721 single base substitution G T intron_variant PRAD-UK 22 35727629 35727629 single base substitution C T downstream_gene_variant PRAD-UK 22 35727629 35727629 single base substitution C T intron_variant PRAD-UK 22 35748522 35748536 deletion of <=200bp GGAGCGAGCAGGGGT - downstream_gene_variant RECA-EU 22 35693846 35693846 single base substitution T G upstream_gene_variant RECA-EU 22 35702159 35702159 single base substitution A G intron_variant RECA-EU 22 35702159 35702159 single base substitution A G upstream_gene_variant RECA-EU 22 35707017 35707017 single base substitution G A intron_variant RECA-EU 22 35707017 35707017 single base substitution G A upstream_gene_variant RECA-EU 22 35709313 35709313 single base substitution C A intron_variant RECA-EU 22 35720668 35720668 single base substitution A G downstream_gene_variant RECA-EU 22 35720668 35720668 single base substitution A G intron_variant RECA-EU 22 35746577 35746577 single base substitution G T downstream_gene_variant RECA-EU 22 35747444 35747444 single base substitution C A downstream_gene_variant SKCA-BR 22 35690399 35690399 single base substitution C T upstream_gene_variant SKCA-BR 22 35691458 35691458 single base substitution A G upstream_gene_variant SKCA-BR 22 35692700 35692700 single base substitution C T upstream_gene_variant SKCA-BR 22 35693533 35693533 single base substitution C T upstream_gene_variant SKCA-BR 22 35693832 35693832 insertion of <=200bp - TTTG upstream_gene_variant SKCA-BR 22 35693846 35693846 single base substitution T G upstream_gene_variant SKCA-BR 22 35697195 35697195 single base substitution G A intron_variant SKCA-BR 22 35698322 35698323 deletion of <=200bp TC - intron_variant SKCA-BR 22 35698323 35698324 deletion of <=200bp CT - intron_variant SKCA-BR 22 35698481 35698481 single base substitution C T intron_variant SKCA-BR 22 35698491 35698491 single base substitution G A intron_variant SKCA-BR 22 35699124 35699124 insertion of <=200bp - AACACACACAC intron_variant SKCA-BR 22 35701898 35701898 insertion of <=200bp - AGAGTG intron_variant SKCA-BR 22 35702184 35702184 single base substitution C T intron_variant SKCA-BR 22 35702184 35702184 single base substitution C T upstream_gene_variant SKCA-BR 22 35710210 35710210 insertion of <=200bp - ATG intron_variant SKCA-BR 22 35711587 35711587 single base substitution C A intron_variant SKCA-BR 22 35714167 35714167 single base substitution A C exon_variant SKCA-BR 22 35714167 35714167 single base substitution A C intron_variant SKCA-BR 22 35714172 35714172 single base substitution A C exon_variant SKCA-BR 22 35714172 35714172 single base substitution A C intron_variant SKCA-BR 22 35717063 35717063 single base substitution C T downstream_gene_variant SKCA-BR 22 35717063 35717063 single base substitution C T intron_variant SKCA-BR 22 35717063 35717063 single base substitution C T upstream_gene_variant SKCA-BR 22 35718879 35718879 single base substitution C T downstream_gene_variant SKCA-BR 22 35718879 35718879 single base substitution C T intron_variant SKCA-BR 22 35718879 35718879 single base substitution C T upstream_gene_variant SKCA-BR 22 35724854 35724854 single base substitution A C downstream_gene_variant SKCA-BR 22 35724854 35724854 single base substitution A C intron_variant SKCA-BR 22 35725008 35725008 single base substitution G A downstream_gene_variant SKCA-BR 22 35725008 35725008 single base substitution G A intron_variant SKCA-BR 22 35728466 35728466 single base substitution T C intron_variant SKCA-BR 22 35730924 35730924 single base substitution C T downstream_gene_variant SKCA-BR 22 35730924 35730924 single base substitution C T intron_variant SKCA-BR 22 35733708 35733708 single base substitution C T downstream_gene_variant SKCA-BR 22 35733708 35733708 single base substitution C T intron_variant SKCA-BR 22 35734657 35734657 single base substitution C T intron_variant SKCA-BR 22 35737758 35737758 single base substitution C T downstream_gene_variant SKCA-BR 22 35737758 35737758 single base substitution C T intron_variant SKCA-BR 22 35737758 35737758 single base substitution C T upstream_gene_variant SKCA-BR 22 35739230 35739230 single base substitution T C downstream_gene_variant SKCA-BR 22 35739230 35739230 single base substitution T C intron_variant SKCA-BR 22 35739230 35739230 single base substitution T C upstream_gene_variant SKCA-BR 22 35739246 35739246 single base substitution A C downstream_gene_variant SKCA-BR 22 35739246 35739246 single base substitution A C intron_variant SKCA-BR 22 35739246 35739246 single base substitution A C upstream_gene_variant SKCA-BR 22 35739250 35739250 insertion of <=200bp - CCA downstream_gene_variant SKCA-BR 22 35739250 35739250 insertion of <=200bp - CCA intron_variant SKCA-BR 22 35739250 35739250 insertion of <=200bp - CCA upstream_gene_variant SKCA-BR 22 35739729 35739729 insertion of <=200bp - CACACCTACACACACACCACATGCATCT downstream_gene_variant SKCA-BR 22 35739729 35739729 insertion of <=200bp - CACACCTACACACACACCACATGCATCT intron_variant SKCA-BR 22 35739729 35739729 insertion of <=200bp - CACACCTACACACACACCACATGCATCT upstream_gene_variant SKCA-BR 22 35741168 35741168 single base substitution G T exon_variant SKCA-BR 22 35741168 35741168 single base substitution G T intron_variant SKCA-BR 22 35742139 35742139 single base substitution C T intron_variant SKCA-BR 22 35742750 35742750 single base substitution C T intron_variant SKCA-BR 22 35745196 35745196 single base substitution T G downstream_gene_variant SKCA-BR 22 35746938 35746938 single base substitution C A downstream_gene_variant SKCA-BR 22 35748412 35748412 single base substitution A C downstream_gene_variant SKCM-US 22 35719109 35719109 single base substitution C T 3_prime_UTR_variant SKCM-US 22 35719109 35719109 single base substitution C T downstream_gene_variant SKCM-US 22 35719109 35719109 single base substitution C T exon_variant SKCM-US 22 35719109 35719109 single base substitution C T missense_variant T102I 305C>T SKCM-US 22 35719109 35719109 single base substitution C T missense_variant T35I 104C>T SKCM-US 22 35719109 35719109 single base substitution C T missense_variant T64I 191C>T SKCM-US 22 35719109 35719109 single base substitution C T missense_variant T69I 206C>T SKCM-US 22 35719109 35719109 single base substitution C T missense_variant T96I 287C>T SKCM-US 22 35719109 35719109 single base substitution C T upstream_gene_variant SKCM-US 22 35719514 35719514 single base substitution C T 3_prime_UTR_variant SKCM-US 22 35719514 35719514 single base substitution C T downstream_gene_variant SKCM-US 22 35719514 35719514 single base substitution C T exon_variant SKCM-US 22 35719514 35719514 single base substitution C T intron_variant SKCM-US 22 35719514 35719514 single base substitution C T missense_variant S125L 374C>T SKCM-US 22 35719514 35719514 single base substitution C T missense_variant S131L 392C>T SKCM-US 22 35719514 35719514 single base substitution C T missense_variant S64L 191C>T SKCM-US 22 35719514 35719514 single base substitution C T missense_variant S93L 278C>T SKCM-US 22 35719514 35719514 single base substitution C T missense_variant S98L 293C>T SKCM-US 22 35719514 35719514 single base substitution C T splice_region_variant SKCM-US 22 35719514 35719514 single base substitution C T upstream_gene_variant SKCM-US 22 35719769 35719769 single base substitution C T 3_prime_UTR_variant SKCM-US 22 35719769 35719769 single base substitution C T downstream_gene_variant SKCM-US 22 35719769 35719769 single base substitution C T exon_variant SKCM-US 22 35719769 35719769 single base substitution C T synonymous_variant F103F 309C>T SKCM-US 22 35719769 35719769 single base substitution C T synonymous_variant F125F 375C>T SKCM-US 22 35719769 35719769 single base substitution C T synonymous_variant F132F 396C>T SKCM-US 22 35719769 35719769 single base substitution C T synonymous_variant F137F 411C>T SKCM-US 22 35719769 35719769 single base substitution C T synonymous_variant F164F 492C>T SKCM-US 22 35719769 35719769 single base substitution C T synonymous_variant F170F 510C>T SKCM-US 22 35719769 35719769 single base substitution C T upstream_gene_variant SKCM-US 22 35719851 35719851 single base substitution C T 3_prime_UTR_variant SKCM-US 22 35719851 35719851 single base substitution C T downstream_gene_variant SKCM-US 22 35719851 35719851 single base substitution C T exon_variant SKCM-US 22 35719851 35719851 single base substitution C T synonymous_variant L131L 391C>T SKCM-US 22 35719851 35719851 single base substitution C T synonymous_variant L153L 457C>T SKCM-US 22 35719851 35719851 single base substitution C T synonymous_variant L160L 478C>T SKCM-US 22 35719851 35719851 single base substitution C T synonymous_variant L165L 493C>T SKCM-US 22 35719851 35719851 single base substitution C T synonymous_variant L192L 574C>T SKCM-US 22 35719851 35719851 single base substitution C T synonymous_variant L198L 592C>T SKCM-US 22 35719851 35719851 single base substitution C T upstream_gene_variant SKCM-US 22 35728996 35728996 single base substitution C T 3_prime_UTR_variant SKCM-US 22 35728996 35728996 single base substitution C T exon_variant SKCM-US 22 35728996 35728996 single base substitution C T stop_gained Q263* 787C>T SKCM-US 22 35728996 35728996 single base substitution C T stop_gained Q270* 808C>T SKCM-US 22 35728996 35728996 single base substitution C T stop_gained Q275* 823C>T SKCM-US 22 35728996 35728996 single base substitution C T stop_gained Q302* 904C>T SKCM-US 22 35728996 35728996 single base substitution C T stop_gained Q308* 922C>T SKCM-US 22 35729433 35729433 single base substitution G A 3_prime_UTR_variant SKCM-US 22 35729433 35729433 single base substitution G A exon_variant SKCM-US 22 35729433 35729433 single base substitution G A missense_variant D279N 835G>A SKCM-US 22 35729433 35729433 single base substitution G A missense_variant D286N 856G>A SKCM-US 22 35729433 35729433 single base substitution G A missense_variant D291N 871G>A SKCM-US 22 35729433 35729433 single base substitution G A missense_variant D318N 952G>A SKCM-US 22 35729433 35729433 single base substitution G A missense_variant D324N 970G>A SKCM-US 22 35742938 35742938 single base substitution G A 3_prime_UTR_variant SKCM-US 22 35742938 35742938 single base substitution G A exon_variant SKCM-US 22 35742938 35742938 single base substitution G A missense_variant E389K 1165G>A SKCM-US 22 35742938 35742938 single base substitution G A missense_variant E396K 1186G>A SKCM-US 22 35742938 35742938 single base substitution G A missense_variant E401K 1201G>A SKCM-US 22 35742938 35742938 single base substitution G A missense_variant E434K 1300G>A STAD-US 22 35719087 35719087 single base substitution G A 3_prime_UTR_variant STAD-US 22 35719087 35719087 single base substitution G A downstream_gene_variant STAD-US 22 35719087 35719087 single base substitution G A exon_variant STAD-US 22 35719087 35719087 single base substitution G A missense_variant V28M 82G>A STAD-US 22 35719087 35719087 single base substitution G A missense_variant V57M 169G>A STAD-US 22 35719087 35719087 single base substitution G A missense_variant V62M 184G>A STAD-US 22 35719087 35719087 single base substitution G A missense_variant V89M 265G>A STAD-US 22 35719087 35719087 single base substitution G A missense_variant V95M 283G>A STAD-US 22 35719087 35719087 single base substitution G A upstream_gene_variant STAD-US 22 35719519 35719519 single base substitution G A 3_prime_UTR_variant STAD-US 22 35719519 35719519 single base substitution G A downstream_gene_variant STAD-US 22 35719519 35719519 single base substitution G A exon_variant STAD-US 22 35719519 35719519 single base substitution G A intron_variant STAD-US 22 35719519 35719519 single base substitution G A missense_variant D100N 298G>A STAD-US 22 35719519 35719519 single base substitution G A missense_variant D127N 379G>A STAD-US 22 35719519 35719519 single base substitution G A missense_variant D133N 397G>A STAD-US 22 35719519 35719519 single base substitution G A missense_variant D66N 196G>A STAD-US 22 35719519 35719519 single base substitution G A missense_variant D95N 283G>A STAD-US 22 35719519 35719519 single base substitution G A upstream_gene_variant STAD-US 22 35719555 35719555 single base substitution C T 3_prime_UTR_variant STAD-US 22 35719555 35719555 single base substitution C T downstream_gene_variant STAD-US 22 35719555 35719555 single base substitution C T exon_variant STAD-US 22 35719555 35719555 single base substitution C T intron_variant STAD-US 22 35719555 35719555 single base substitution C T missense_variant R107W 319C>T STAD-US 22 35719555 35719555 single base substitution C T missense_variant R112W 334C>T STAD-US 22 35719555 35719555 single base substitution C T missense_variant R139W 415C>T STAD-US 22 35719555 35719555 single base substitution C T missense_variant R145W 433C>T STAD-US 22 35719555 35719555 single base substitution C T missense_variant R78W 232C>T STAD-US 22 35719555 35719555 single base substitution C T upstream_gene_variant STAD-US 22 35730403 35730403 single base substitution G A 3_prime_UTR_variant STAD-US 22 35730403 35730403 single base substitution G A downstream_gene_variant STAD-US 22 35730403 35730403 single base substitution G A exon_variant STAD-US 22 35730403 35730403 single base substitution G A synonymous_variant A325A 975G>A STAD-US 22 35730403 35730403 single base substitution G A synonymous_variant A332A 996G>A STAD-US 22 35730403 35730403 single base substitution G A synonymous_variant A337A 1011G>A STAD-US 22 35730403 35730403 single base substitution G A synonymous_variant A370A 1110G>A STAD-US 22 35743071 35743071 single base substitution C T 3_prime_UTR_variant STAD-US 22 35743071 35743071 single base substitution C T exon_variant STAD-US 22 35743071 35743071 single base substitution C T missense_variant R405W 1213C>T STAD-US 22 35743071 35743071 single base substitution C T missense_variant R412W 1234C>T STAD-US 22 35743071 35743071 single base substitution C T missense_variant R418W 1252C>T STAD-US 22 35743071 35743071 single base substitution C T missense_variant R450W 1348C>T STAD-US 22 35743071 35743071 single base substitution C T missense_variant R451W 1351C>T STAD-US 22 35743188 35743188 single base substitution C T 3_prime_UTR_variant STAD-US 22 35743188 35743188 single base substitution C T exon_variant STAD-US 22 35743188 35743188 single base substitution C T synonymous_variant L444L 1330C>T STAD-US 22 35743188 35743188 single base substitution C T synonymous_variant L451L 1351C>T STAD-US 22 35743188 35743188 single base substitution C T synonymous_variant L457L 1369C>T STAD-US 22 35743188 35743188 single base substitution C T synonymous_variant L489L 1465C>T STAD-US 22 35743188 35743188 single base substitution C T synonymous_variant L490L 1468C>T UCEC-US 22 35713945 35713945 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 22 35713945 35713945 single base substitution C T exon_variant UCEC-US 22 35713945 35713945 single base substitution C T intron_variant UCEC-US 22 35713945 35713945 single base substitution C T missense_variant R22W 64C>T UCEC-US 22 35713945 35713945 single base substitution C T missense_variant T10M 29C>T UCEC-US 22 35713945 35713945 single base substitution C T missense_variant T43M 128C>T UCEC-US 22 35717988 35717988 single base substitution C T 3_prime_UTR_variant UCEC-US 22 35717988 35717988 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 22 35717988 35717988 single base substitution C T downstream_gene_variant UCEC-US 22 35717988 35717988 single base substitution C T exon_variant UCEC-US 22 35717988 35717988 single base substitution C T intron_variant UCEC-US 22 35717988 35717988 single base substitution C T synonymous_variant I25I 75C>T UCEC-US 22 35717988 35717988 single base substitution C T synonymous_variant I58I 174C>T UCEC-US 22 35717988 35717988 single base substitution C T upstream_gene_variant UCEC-US 22 35719099 35719099 single base substitution C A 3_prime_UTR_variant UCEC-US 22 35719099 35719099 single base substitution C A downstream_gene_variant UCEC-US 22 35719099 35719099 single base substitution C A exon_variant UCEC-US 22 35719099 35719099 single base substitution C A missense_variant L32M 94C>A UCEC-US 22 35719099 35719099 single base substitution C A missense_variant L61M 181C>A UCEC-US 22 35719099 35719099 single base substitution C A missense_variant L66M 196C>A UCEC-US 22 35719099 35719099 single base substitution C A missense_variant L93M 277C>A UCEC-US 22 35719099 35719099 single base substitution C A missense_variant L99M 295C>A UCEC-US 22 35719099 35719099 single base substitution C A upstream_gene_variant UCEC-US 22 35726356 35726356 single base substitution G A 3_prime_UTR_variant UCEC-US 22 35726356 35726356 single base substitution G A downstream_gene_variant UCEC-US 22 35726356 35726356 single base substitution G A exon_variant UCEC-US 22 35726356 35726356 single base substitution G A missense_variant C194Y 581G>A UCEC-US 22 35726356 35726356 single base substitution G A missense_variant C216Y 647G>A UCEC-US 22 35726356 35726356 single base substitution G A missense_variant C223Y 668G>A UCEC-US 22 35726356 35726356 single base substitution G A missense_variant C228Y 683G>A UCEC-US 22 35726356 35726356 single base substitution G A missense_variant C255Y 764G>A UCEC-US 22 35726356 35726356 single base substitution G A missense_variant C261Y 782G>A UCEC-US 22 35743315 35743315 single base substitution C T 3_prime_UTR_variant UCEC-US 22 35743315 35743315 single base substitution C T exon_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CCK81 COSM2939456 c.1388C>T p.P463L Substitution - Missense 22:35347118-35347118 + LC_S45 COSM1190432 c.748G>T p.D250Y Substitution - Missense 22:35327370-35327370 + TCGA-C5-A7UH-01 COSM3553848 c.592C>T p.L198L Substitution - coding silent 22:35323858-35323858 + Pat_01_B COSM5859262 c.545G>A p.G182D Substitution - Missense 22:35323811-35323811 + TCGA-09-1661-01 COSM78680 c.181A>C p.N61H Substitution - Missense 22:35322002-35322002 + PTC-7C COSM1130443 c.1287T>G p.G429G Substitution - coding silent 22:35346932-35346932 + TCGA-AP-A059-01 COSM1033734 c.128C>T p.T43M Substitution - Missense 22:35317952-35317952 + WA48 COSM238336 c.276G>A p.Q92Q Substitution - coding silent 22:35323087-35323087 + PD4203a COSM165058 c.64G>A p.D22N Substitution - Missense 22:35317888-35317888 + TCGA-EE-A20C-06 COSM3553844 c.392C>T p.S131L Substitution - Missense 22:35323521-35323521 + TCGA-DK-A3IK-01 COSM1308116 c.325C>A p.P109T Substitution - Missense 22:35323136-35323136 + TCGA-13-0906-01 COSM117809 c.1087G>A p.E363K Substitution - Missense 22:35334387-35334387 + 2492729 COSM5726363 c.844G>A p.E282K Substitution - Missense 22:35330425-35330425 + TCGA-BC-A217-01 COSM4936918 c.167A>G p.K56R Substitution - Missense 22:35321988-35321988 + TCGA-K4-A3WS-01 COSM3800165 c.754G>A p.E252K Substitution - Missense 22:35327376-35327376 + TCGA-06-0165 COSM2150153 c.1272delG p.S425fs*>68 Deletion - Frameshift 22:35345772-35345772 + EV001-M1 COSM1161953 c.685delG p.N230fs*2 Deletion - Frameshift 22:35327307-35327307 + CSCC-44-T COSM4566667 c.437_438GG>AA p.R146K Substitution - Missense 22:35323566-35323567 + B80-Tumor COSM1751846 c.1120G>A p.G374S Substitution - Missense 22:35334420-35334420 + CSCC-55-T COSM4515899 c.1412_1413CC>TT p.P471L Substitution - Missense 22:35347142-35347143 + M14 COSM1682239 c.374C>T p.A125V Substitution - Missense 22:35323503-35323503 + TCGA-CZ-5985-01 COSM478917 c.1060C>G p.Q354E Substitution - Missense 22:35334360-35334360 + S02242 COSM5677327 c.1225-3C>T p.? Unknown 22:35345722-35345722 + TCGA-F4-6703-01 COSM5172530 c.1163delC p.Q390fs*>103 Deletion - Frameshift 22:35338727-35338727 + TCGA-A7-A26E-01 COSM1033734 c.128C>T p.T43M Substitution - Missense 22:35317952-35317952 + TCGA-EK-A2RL-01 COSM4820442 c.505G>A p.V169M Substitution - Missense 22:35323771-35323771 + TCGA-AX-A0J1-01 COSM1033736 c.295C>A p.L99M Substitution - Missense 22:35323106-35323106 + TCGA-P4-A5EA-01 COSM3992122 c.675G>T p.E225D Substitution - Missense 22:35327297-35327297 + S0087 COSM5883673 c.1436A>G p.K479R Substitution - Missense 22:35347166-35347166 + TCGA-BR-8680-01 COSM4103752 c.433C>T p.R145W Substitution - Missense 22:35323562-35323562 + TCGA-EE-A29V-06 COSM3553854 c.1300G>A p.E434K Substitution - Missense 22:35346945-35346945 + HCT-15 COSM1682238 c.76C>T p.Q26* Substitution - Nonsense 22:35317900-35317900 + Pat_06_B COSM5859266 c.1081C>G p.R361G Substitution - Missense 22:35334381-35334381 + TCGA-29-1774-01 COSM1327251 c.598G>A p.A200T Substitution - Missense 22:35323864-35323864 + TCGA-A3-3357-01 COSM478916 c.342T>C p.H114H Substitution - coding silent 22:35323153-35323153 + RMS109_ COSM2939427 c.268G>A p.A90T Substitution - Missense 22:35323079-35323079 + 587376 COSM1230060 c.1329T>G p.F443L Substitution - Missense 22:35347059-35347059 + LUAD-B02077 COSM335143 c.735G>T p.Q245H Substitution - Missense 22:35327357-35327357 + LUAD-YINHD COSM350306 c.1314C>A p.V438V Substitution - coding silent 22:35346959-35346959 + LUAD-B01970 COSM356125 c.536A>G p.D179G Substitution - Missense 22:35323802-35323802 + TCGA-EW-A1P8-01 COSM1484195 c.1163C>T p.A388V Substitution - Missense 22:35338727-35338727 + TCGA-C5-A7UH-01 COSM4856617 c.384C>T p.F128F Substitution - coding silent 22:35323513-35323513 + TCGA-34-2608-01 COSM726488 c.1279G>T p.D427Y Substitution - Missense 22:35345779-35345779 + TCGA-AO-A0J5-01 COSM444926 c.5A>G p.D2G Substitution - Missense 22:35299933-35299933 + TCGA-66-2734-01 COSM726489 c.753G>T p.L251L Substitution - coding silent 22:35327375-35327375 + CSCC-18-T COSM4508842 c.789C>T p.A263A Substitution - coding silent 22:35330370-35330370 + TCGA-D3-A5GN-06 COSM3553842 c.305C>T p.T102I Substitution - Missense 22:35323116-35323116 + RMH004-VT COSM4411389 c.1118G>A p.R373Q Substitution - Missense 22:35334418-35334418 + ESO-536 COSM1268298 c.780G>T p.T260T Substitution - coding silent 22:35330361-35330361 + 2492729 COSM5726366 c.847G>A p.E283K Substitution - Missense 22:35330428-35330428 + TCGA-EJ-5495-01 COSM1130443 c.1287T>G p.G429G Substitution - coding silent 22:35346932-35346932 + sysucc-1370T COSM2939435 c.690C>T p.N230N Substitution - coding silent 22:35327312-35327312 + 1N27-VS-1T27 COSM4973671 c.738C>T p.A246A Substitution - coding silent 22:35327360-35327360 + A2 COSM5350682 c.222A>G p.L74L Substitution - coding silent 22:35323033-35323033 + 46M COSM5589184 c.596C>T p.P199L Substitution - Missense 22:35323862-35323862 + TCGA-BS-A0UV-01 COSM1033735 c.174C>T p.I58I Substitution - coding silent 22:35321995-35321995 + TCGA-CD-A4MI-01 COSM4103757 c.1465C>T p.L489L Substitution - coding silent 22:35347195-35347195 + TCGA-61-2095-01 COSM117998 c.1438A>T p.K480* Substitution - Nonsense 22:35347168-35347168 + EV001-M2a COSM1161953 c.685delG p.N230fs*2 Deletion - Frameshift 22:35327307-35327307 + ESO-866 COSM1268299 c.1078G>T p.G360C Substitution - Missense 22:35334378-35334378 + YUROG COSM5393513 c.1011C>T p.S337S Substitution - coding silent 22:35333481-35333481 + TCGA-12-0615 COSM2150153 c.1272delG p.S425fs*>68 Deletion - Frameshift 22:35345772-35345772 + TCGA-EE-A29M-06 COSM3553850 c.922C>T p.Q308* Substitution - Nonsense 22:35333003-35333003 + TCGA-BR-7707-01 COSM4103748 c.283G>A p.V95M Substitution - Missense 22:35323094-35323094 + TCGA-EE-A29S-06 COSM3553846 c.510C>T p.F170F Substitution - coding silent 22:35323776-35323776 + CSCC-32-T COSM4479054 c.228C>T p.T76T Substitution - coding silent 22:35323039-35323039 + PD12805a COSM3770237 c.779C>T p.T260M Substitution - Missense 22:35330360-35330360 + QC2-15-T2 COSM5652529 c.642G>A p.P214P Substitution - coding silent 22:35323908-35323908 + DN14011 COSM5962305 c.155G>A p.R52Q Substitution - Missense 22:35321976-35321976 + HCC15T COSM1616410 c.1479A>T p.*493C Nonstop extension 22:35347209-35347209 + 53M COSM5595468 c.385C>T p.R129C Substitution - Missense 22:35323514-35323514 + 469 COSM4437588 c.691G>A p.V231M Substitution - Missense 22:35327313-35327313 + 001 COSM1161953 c.685delG p.N230fs*2 Deletion - Frameshift 22:35327307-35327307 + B89-4 COSM1751845 c.963C>A p.D321E Substitution - Missense 22:35333433-35333433 + 343 COSM1742240 c.51C>A p.I17I Substitution - coding silent 22:35299979-35299979 + TCGA-E9-A22G-01 COSM1484194 c.1005C>G p.L335L Substitution - coding silent 22:35333475-35333475 + sysucc-1163T COSM5458933 c.366+8C>T p.? Unknown 22:35323185-35323185 + PTC-14C COSM4156188 c.1202C>T p.A401V Substitution - Missense 22:35338766-35338766 + TCGA-C5-A7UH-01 COSM4856675 c.584C>T p.A195V Substitution - Missense 22:35323850-35323850 + TCGA-EE-A182-06 COSM3553848 c.592C>T p.L198L Substitution - coding silent 22:35323858-35323858 + BD217T COSM5495501 c.712C>G p.L238V Substitution - Missense 22:35327334-35327334 + 19 COSM5748250 c.1372C>G p.P458A Substitution - Missense 22:35347102-35347102 + B89-4-Tumor COSM1751845 c.963C>A p.D321E Substitution - Missense 22:35333433-35333433 + DLD1 COSM1682238 c.76C>T p.Q26* Substitution - Nonsense 22:35317900-35317900 + HCC15 COSM1616410 c.1479A>T p.*493C Nonstop extension 22:35347209-35347209 + TCGA-66-2791-01 COSM726491 c.103G>C p.E35Q Substitution - Missense 22:35317927-35317927 + TCGA-AP-A051-01 COSM301147 c.782G>A p.C261Y Substitution - Missense 22:35330363-35330363 + ESCC_BICR_040T COSM5430064 c.1478G>C p.*493S Nonstop extension 22:35347208-35347208 + TCGA-FG-7637-01 COSM3972939 c.784C>G p.R262G Substitution - Missense 22:35330365-35330365 + LOVO COSM1327251 c.598G>A p.A200T Substitution - Missense 22:35323864-35323864 + TCGA-AA-A03F-01 COSM301147 c.782G>A p.C261Y Substitution - Missense 22:35330363-35330363 + TCGA-EK-A2R9-01 COSM3972939 c.784C>G p.R262G Substitution - Missense 22:35330365-35330365 + ESCC_151 COSM5645216 c.259G>A p.V87M Substitution - Missense 22:35323070-35323070 + T2940 COSM4735266 c.1321G>A p.E441K Substitution - Missense 22:35346966-35346966 + TCGA-BR-8296-01 COSM4103750 c.397G>A p.D133N Substitution - Missense 22:35323526-35323526 + TCGA-P4-A5EA-01 COSM3992124 c.676A>C p.M226L Substitution - Missense 22:35327298-35327298 + B80 COSM1751846 c.1120G>A p.G374S Substitution - Missense 22:35334420-35334420 + XHDG06 COSM4768469 c.1434G>A p.R478R Substitution - coding silent 22:35347164-35347164 + LU-1991 COSM5614877 c.1433G>T p.R478L Substitution - Missense 22:35347163-35347163 + BD228T COSM5508781 c.1274delC p.T426fs*>67 Deletion - Frameshift 22:35345774-35345774 + HCT15 COSM1682238 c.76C>T p.Q26* Substitution - Nonsense 22:35317900-35317900 + EV001-M2b COSM1161953 c.685delG p.N230fs*2 Deletion - Frameshift 22:35327307-35327307 + 43 COSM3723924 c.1401G>C p.G467G Substitution - coding silent 22:35347131-35347131 + AOCS-094-6-X COSM4137416 c.919G>A p.G307S Substitution - Missense 22:35333000-35333000 + YUPAT COSM1714322 c.154C>T p.R52* Substitution - Nonsense 22:35321975-35321975 + ESCC_11 COSM3972939 c.784C>G p.R262G Substitution - Missense 22:35330365-35330365 + BD72T COSM5513708 c.825C>T p.I275I Substitution - coding silent 22:35330406-35330406 + YUDEDE COSM1714324 c.947C>T p.A316V Substitution - Missense 22:35333417-35333417 + 234 COSM3731291 c.302G>T p.R101M Substitution - Missense 22:35323113-35323113 + 98 COSM5016682 c.1308delG p.V438fs*>55 Deletion - Frameshift 22:35346953-35346953 + BD110T COSM5514367 c.393G>A p.S131S Substitution - coding silent 22:35323522-35323522 + RKO COSM2939421 c.81C>T p.S27S Substitution - coding silent 22:35317905-35317905 + SC_9066 COSM4735266 c.1321G>A p.E441K Substitution - Missense 22:35346966-35346966 + TCGA-HU-A4GQ-01 COSM2939447 c.1110G>A p.A370A Substitution - coding silent 22:35334410-35334410 + TCGA-IN-8663-01 COSM4103755 c.1348C>T p.R450W Substitution - Missense 22:35347078-35347078 + PD4004a COSM165057 c.244G>A p.G82R Substitution - Missense 22:35323055-35323055 + TCGA-EE-A2M6-06 COSM3553852 c.970G>A p.D324N Substitution - Missense 22:35333440-35333440 + YURUS COSM1714323 c.718G>A p.E240K Substitution - Missense 22:35327340-35327340 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.474693;Hs.474703;Hs.474705 22q13.1 604700

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C 3-UTRSNV . c.1479+25A>C 22 35743224 CM A C Missense p.N61H c.181A>C 22 35717995 OV A G Missense p.D2G c.5A>G 22 35695926 BRCA A G Missense p.E302G c.905A>G 22 35728979 LUAD A G Missense p.K79R c.236A>G 22 35719040 BRCA A T Nonsense p.K481* c.1441A>T 22 35743161 OV C A Missense p.P109T c.325C>A 22 35719129 BLCA CC TA Missense p.L51I c.150_151delinsTA 22 35717964 CM CC TT Missense p.P327S c.978_979delinsTT 22 35729441 CM C - Frameshift p.P214Rfs*14 c.641delC 22 35719897 LUAD C G Missense p.R262G c.784C>G 22 35726358 LGG C G Synonymous p.L335L c.1005C>G 22 35729468 BRCA C T IntronicSNV . c.367-15C>T 22 35719474 CM C T IntronicSNV . c.934-91C>T 22 35729306 CM C T Missense p.A388V c.1163C>T 22 35734720 BRCA C T Missense p.A492V c.1475C>T 22 35743195 LUAD C T Missense p.P472L c.1415C>T 22 35743135 CM C T Missense p.S131L c.392C>T 22 35719514 CM C T Missense p.T43M c.128C>T 22 35713945 BRCA C T Nonsense p.Q265* c.793C>T 22 35726367 HNSC C T Nonsense p.Q308* c.922C>T 22 35728996 CM C T Synonymous p.F170F c.510C>T 22 35719769 CM C T Synonymous p.L198L c.592C>T 22 35719851 CM C T Synonymous p.N63N c.189C>T 22 35718003 CM G A Missense p.C261Y c.782G>A 22 35726356 COREAD G A Missense p.D22N c.64G>A 22 35713881 BRCA G A Missense p.D324N c.970G>A 22 35729433 CM G A Missense p.E363K c.1087G>A 22 35730380 OV G A Missense p.E434K c.1300G>A 22 35742938 CM G A Missense p.G82R c.244G>A 22 35719048 BRCA G A Synonymous p.V59V c.177G>A 22 35717991 CM G C Missense p.E35Q c.103G>C 22 35713920 LUSC G T Missense p.D427Y c.1279G>T 22 35741772 LUSC G T Missense p.G360C c.1078G>T 22 35730371 ESCA G T Synonymous p.L251L c.753G>T 22 35723368 LUSC T C Synonymous p.H114H c.342T>C 22 35719146 RCCC