Browse ASXL1 in pancancer

Summary
SymbolASXL1
Nameadditional sex combs like 1, transcriptional regulator
Aliases KIAA0978; additional sex combs like 1 (Drosophila); BOPS; additional sex combs like 1; Additional sex combs- ......
Location20q11.21
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Domain, Function and Classification
> Gene Ontology
> KEGG and Reactome Pathway
> Domain, Function and Classification
 
Domain PF13919 Asx homology domain
PF05066 HB1
PF13922 PHD domain of transcriptional enhancer
Function

Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG). Acts as coactivator of RARA and RXRA through association with NCOA1. Acts as corepressor through recruitment of KDM1A and CBX5 to target genes in a cell-type specific manner; the function seems to involve differential recruitment of methylated histone H3 to respective promoters. Acts as corepressor for PPARG and suppresses its adipocyte differentiation-inducing activity (By similarity). Non-catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1).

Classification
Class Modification Substrate Product PubMed
Histone modification erase, Polycomb group (PcG) protein Histone deubiquitination, # H2AK119 H2AK119ub1 20436459
> Gene Ontology
 
Biological Process GO:0001101 response to acid chemical
GO:0001501 skeletal system development
GO:0003007 heart morphogenesis
GO:0007507 heart development
GO:0016570 histone modification
GO:0016578 histone deubiquitination
GO:0016579 protein deubiquitination
GO:0030323 respiratory tube development
GO:0030324 lung development
GO:0030522 intracellular receptor signaling pathway
GO:0032526 response to retinoic acid
GO:0035357 peroxisome proliferator activated receptor signaling pathway
GO:0035358 regulation of peroxisome proliferator activated receptor signaling pathway
GO:0035359 negative regulation of peroxisome proliferator activated receptor signaling pathway
GO:0035520 monoubiquitinated protein deubiquitination
GO:0035521 monoubiquitinated histone deubiquitination
GO:0035522 monoubiquitinated histone H2A deubiquitination
GO:0045444 fat cell differentiation
GO:0045598 regulation of fat cell differentiation
GO:0045599 negative regulation of fat cell differentiation
GO:0048286 lung alveolus development
GO:0048384 retinoic acid receptor signaling pathway
GO:0048385 regulation of retinoic acid receptor signaling pathway
GO:0048386 positive regulation of retinoic acid receptor signaling pathway
GO:0048387 negative regulation of retinoic acid receptor signaling pathway
GO:0060348 bone development
GO:0060430 lung saccule development
GO:0060541 respiratory system development
GO:0070646 protein modification by small protein removal
Molecular Function GO:0003713 transcription coactivator activity
GO:0003714 transcription corepressor activity
GO:0008134 transcription factor binding
GO:0035257 nuclear hormone receptor binding
GO:0042974 retinoic acid receptor binding
GO:0042975 peroxisome proliferator activated receptor binding
GO:0051427 hormone receptor binding
Cellular Component GO:0000785 chromatin
GO:0000790 nuclear chromatin
GO:0031519 PcG protein complex
GO:0035517 PR-DUB complex
GO:0044454 nuclear chromosome part
> KEGG and Reactome Pathway
 
KEGG -
Reactome R-HSA-5688426: Deubiquitination
R-HSA-392499: Metabolism of proteins
R-HSA-597592: Post-translational protein modification
R-HSA-5689603: UCH proteinases
Summary
SymbolASXL1
Nameadditional sex combs like 1, transcriptional regulator
Aliases KIAA0978; additional sex combs like 1 (Drosophila); BOPS; additional sex combs like 1; Additional sex combs- ......
Location20q11.21
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Mutation landscape in primary tumor tissue from TCGA
> Mutation landscape in cancer cell line from CCLE
> All mutations from COSMIC database V81
> Variations from text mining
> The Cancer Genome Atlas (TCGA)
 
> Cancer Cell Line Encyclopedia (CCLE)
 
There is no record.
> Catalogue of Somatic Mutations in Cancer (COSMIC)
 
COSMIC ID CDS change AA change Mutation Type Anatomical Site
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4806399c.115G>Cp.E39QSubstitution - MissenseLiver
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1583049c.?p.T514fs*13FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132974c.?p.Q780*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1234988c.2122C>Tp.Q708*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM53204c.2290_2290delCp.L764fs*8Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4972323c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1685367c.?p.L622fs*9FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1565851c.961C>Tp.R321WSubstitution - MissenseLarge_intestine
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1012908c.1879_1880insGp.A627fs*8Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96347c.?p.G646fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM2889270c.2131A>Gp.T711ASubstitution - MissenseLarge_intestine
COSM3963467c.1238G>Ap.R413QSubstitution - MissenseLung
COSM5607291c.3122delCp.P1042fs*5Deletion - FrameshiftSkin
COSM5944377c.1888_1892delCACCAp.H630fs*3Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4972323c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4411315c.1636C>Ap.Q546KSubstitution - MissenseKidney
COSM96347c.?p.G646fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM914353c.?p.Q733*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5945406c.1589C>Tp.A530VSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM36167c.2423delCp.P808fs*10Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4134435c.3759T>Cp.S1253SSubstitution - coding silentSoft_tissue
COSM5945398c.254A>Gp.K85RSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM219102c.1900_1921del22p.R634fs*62Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96347c.?p.G646fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36205c.3306G>Tp.E1102DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsensePancreas
COSM914346c.1935_1936insTp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5574291c.?p.G646fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132979c.?p.Q757*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM36168c.1851_1852insTp.K618fs*1Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5944377c.1888_1892delCACCAp.H630fs*3Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5944377c.1888_1892delCACCAp.H630fs*3Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM53203c.1918_1928del11p.A640fs*14Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1716557c.2597T>Gp.L866*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM41713c.3810_3811insAAp.T1271fs*10Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM359680c.2372C>Tp.S791FSubstitution - MissenseLung
COSM41715c.3202C>Tp.R1068*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4952486c.144-2A>Gp.?UnknownLiver
COSM5989626c.1887delTp.H630fs*73Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51200c.1888_1910del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3963469c.1612A>Gp.K538ESubstitution - MissenseStomach
COSM4169780c.2883_2884delTGp.V962fs*7Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4941760c.771C>Tp.S257SSubstitution - coding silentLiver
COSM5471176c.1914C>Ap.T638TSubstitution - coding silentLarge_intestine
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4972321c.?p.G645fs*58FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4134435c.3759T>Cp.S1253SSubstitution - coding silentSoft_tissue
COSM4134435c.3759T>Cp.S1253SSubstitution - coding silentSoft_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM4385133c.3616_3625del10p.A1206fs*8Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM133586c.2053G>Ap.G685RSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM110707c.1762C>Tp.Q588*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5927059c.887G>Ap.G296ESubstitution - MissenseSkin
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5734439c.3633_3636delCTCCp.L1213fs*3Deletion - FrameshiftPancreas
COSM1737878c.1894_1895insTp.C632fs*3Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716555c.1954G>Ap.G652SSubstitution - MissenseSoft_tissue
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM307767c.1902_1924del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4136815c.3012C>Ap.D1004ESubstitution - MissenseOvary
COSM4972323c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM307769c.1925_1926insAp.G643fs*15Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4392089c.3214G>Ap.V1072ISubstitution - MissenseProstate
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM4097539c.222G>Ap.L74LSubstitution - coding silentStomach
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5944713c.2010_2011insCCp.A671fs*33Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM303942c.?p.?*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5989626c.1887delTp.H630fs*73Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4134435c.3759T>Cp.S1253SSubstitution - coding silentSoft_tissue
COSM1307273c.673C>Tp.Q225*Substitution - NonsenseUrinary_tract
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM96347c.?p.G646fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96381c.2357G>Ap.R786KSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM53217c.3002_3011CAGCCTCTGA>TAGGCp.T1001fs*4Complex - frameshiftHaematopoietic_and_lymphoid_tissue
COSM1315860c.2057_2058insAAAGp.C687fs*32Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5944725c.2945_2946insAp.L983fs*8Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4837687c.980-1G>Tp.?UnknownCervix
COSM5879661c.2083_2084insAp.L696fs*22Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51200c.1888_1910del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51200c.1888_1910del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM110707c.1762C>Tp.Q588*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM307766c.2242C>Tp.Q748*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1025739c.4411G>Ap.V1471MSubstitution - MissenseEndometrium
COSM4385097c.2245delCp.L749fs*23Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4134435c.3759T>Cp.S1253SSubstitution - coding silentSoft_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4611054c.1935delTp.G646fs*57Deletion - FrameshiftLarge_intestine
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1685367c.?p.L622fs*9FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1738039c.?p.R625fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1716930c.2621_2622delCTp.P874fs*5Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1025735c.3739C>Tp.R1247CSubstitution - MissenseEndometrium
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM41990c.4183C>Gp.L1395VSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM307359c.3658A>Tp.I1220FSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5574291c.?p.G646fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1583051c.?p.L775fs*1FrameshiftHaematopoietic_and_lymphoid_tissue
COSM166446c.4243C>Tp.R1415*Substitution - NonsenseOesophagus
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1183834c.2570T>Cp.L857PSubstitution - MissenseLarge_intestine
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4663889c.1645delCp.R549fs*154Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5944123c.1628_1629insGGCTTGAp.D544fs*2Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1716915c.1157_1160delTGTGp.C387fs*74Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM142310c.1927_1928insAp.G643fs*15Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM97042c.2898_2900delAGGp.G967delDeletion - In frameHaematopoietic_and_lymphoid_tissue
COSM5879675c.2565_2566insAp.C856fs*8Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5944377c.1888_1892delCACCAp.H630fs*3Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4385701c.2707_2708insCp.N904fs*2Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1155725c.?p.(K1302_K1303)LSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36205c.3306G>Tp.E1102DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsensePancreas
COSM96400c.1774C>Tp.Q592*Substitution - NonsenseLarge_intestine
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM97044c.2395G>Tp.D799YSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM96347c.?p.G646fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4663891c.1732C>Tp.R578CSubstitution - MissenseLarge_intestine
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsensePancreas
COSM2270980c.3605_3606insAp.N1203fs*9Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1615450c.1578C>Tp.S526SSubstitution - coding silentLiver
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM219136c.2324T>Ap.L775*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1193409c.4042G>Ap.G1348RSubstitution - MissenseLung
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1411068c.1356G>Ap.G452GSubstitution - coding silentLarge_intestine
COSM1133044c.4090G>Cp.V1364LSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96393c.1976G>Ap.G659DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM110706c.1969G>Tp.E657*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM51200c.1888_1910del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36205c.3306G>Tp.E1102DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM723117c.3519G>Cp.L1173FSubstitution - MissenseLung
COSM5945414c.2360C>Ap.T787NSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5945710c.1465C>Gp.R489GSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1411087c.2530_2531insCp.S846fs*5Insertion - FrameshiftLarge_intestine
COSM41715c.3202C>Tp.R1068*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM219095c.?p.E727*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4972323c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4915973c.4191T>Cp.G1397GSubstitution - coding silentLiver
COSM5879663c.2084delAp.Q695fs*8Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM185025c.396G>Ap.S132SSubstitution - coding silentLarge_intestine
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM110707c.1762C>Tp.Q588*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1012907c.3050A>Cp.D1017ASubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4385687c.1627_1628insGp.E543fs*8Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM914363c.?p.A1172fs*2FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5031163c.?p.?UnknownThymus
COSM1315846c.4304G>Cp.S1435TSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5632912c.3833A>Gp.N1278SSubstitution - MissenseOesophagus
COSM96391c.2254_2255insGp.A752fs*22Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1315839c.2355_2355delTp.R786fs*32Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4767375c.2926C>Tp.Q976*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4663886c.1208A>Gp.Q403RSubstitution - MissenseLarge_intestine
COSM253321c.?p.R634fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM97046c.3935C>Tp.A1312VSubstitution - MissenseOvary
COSM4600408c.2560A>Tp.T854SSubstitution - MissenseUpper_aerodigestive_tract
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4972330c.?p.T694fs*9FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1738033c.?p.A627fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM914342c.?p.Y591*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36205c.3306G>Tp.E1102DSubstitution - MissenseBreast
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132984c.?p.E602*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5967161c.1784_1920del137p.P595fs*17Deletion - FrameshiftSalivary_gland
COSM36166c.1772_1773insAp.Y591fs*1Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM723125c.2035G>Tp.G679*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1738015c.2536_2536delAp.S846fs*21Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM110708c.1782C>Ap.C594*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1315842c.2601_2601delGp.G869fs*7Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM723124c.2071C>Tp.L691LSubstitution - coding silentLung
COSM1155828c.2548G>Tp.E850*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1724992c.2253_2254insGp.A752fs*22Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4663884c.930C>Tp.N310NSubstitution - coding silentLarge_intestine
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM146261c.2058_2059delGTp.C687fs*30Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftLarge_intestine
COSM5927061c.4466C>Tp.S1489FSubstitution - MissenseSkin
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM5511154c.643G>Ap.A215TSubstitution - MissenseBiliary_tract
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132980c.?p.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4972323c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4604570c.1836G>Cp.R612SSubstitution - MissenseUpper_aerodigestive_tract
COSM1012909c.2848_2848delCp.L950fs*1Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1180918c.1927delGp.G645fs*58Deletion - FrameshiftLarge_intestine
COSM219100c.?p.C730*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsensePancreas
COSM96389c.2356A>Gp.R786GSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36167c.2423delCp.P808fs*10Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM307767c.1902_1924del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM914353c.?p.Q733*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM41600c.?p.Q976*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM914362c.?p.Q829*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM97032c.2061_2061delTp.C687fs*1Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM5555946c.2112G>Ap.G704GSubstitution - coding silentProstate
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1025722c.804C>Tp.I268ISubstitution - coding silentEndometrium
COSM4385111c.2755A>Gp.I919VSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5365970c.1454C>Tp.S485FSubstitution - MissenseLarge_intestine
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4991370c.2050C>Tp.P684SSubstitution - MissenseSkin
COSM97038c.2475_2476insAp.G826fs*7Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132970c.?p.G659fs*9FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132978c.?p.R965*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM97189c.2580_2581delAGp.R860fs*3Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM53207c.2387G>Ap.W796*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM914359c.?p.E788fs*10FrameshiftHaematopoietic_and_lymphoid_tissue
COSM41715c.3202C>Tp.R1068*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM51200c.1888_1910del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM41599c.?p.C687*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM443634c.1534C>Tp.Q512*Substitution - NonsenseUrinary_tract
COSM478003c.2989G>Tp.E997*Substitution - NonsenseKidney
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36205c.3306G>Tp.E1102DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsensePancreas
COSM1190236c.2920T>Cp.Y974HSubstitution - MissenseLung
COSM5504652c.1239G>Tp.R413RSubstitution - coding silentBiliary_tract
COSM4972323c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM256358c.1062C>Ap.F354LSubstitution - MissenseLarge_intestine
COSM1130660c.1260C>Tp.A420ASubstitution - coding silentProstate
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM307360c.2757_2758insAp.P920fs*4Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM97188c.?p.A752fs*20FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4169558c.?p.E914*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1155723c.3306G>Cp.E1102DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1240863c.2696T>Cp.I899TSubstitution - MissenseOesophagus
COSM4385083c.2047A>Gp.T683ASubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM339753c.3598C>Tp.P1200SSubstitution - MissenseLung
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM110712c.2541_2541delCp.T848fs*19Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96387c.1915_1941>18p.T639_P647>PPSDGSComplex - deletion inframeHaematopoietic_and_lymphoid_tissue
COSM1315834c.1972G>Tp.G658*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5977750c.3540T>Gp.D1180ESubstitution - MissenseCentral_nervous_system
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132980c.?p.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4972323c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1025719c.473C>Tp.A158VSubstitution - MissenseEndometrium
COSM4097561c.2704C>Tp.P902SSubstitution - MissenseStomach
COSM2270982c.1249C>Tp.R417*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36205c.3306G>Tp.E1102DSubstitution - MissenseSoft_tissue
COSM1025737c.4078C>Tp.P1360SSubstitution - MissenseEndometrium
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1577289c.?p.?fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5343569c.3514G>Ap.A1172TSubstitution - MissenseLarge_intestine
COSM1180918c.1927delGp.G645fs*58Deletion - FrameshiftLarge_intestine
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96380c.2407C>Tp.Q803*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM307766c.2242C>Tp.Q748*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM41718c.3788_3788delCp.P1263fs*17Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4385087c.2128delGp.G710fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM6004560c.2151G>Tp.R717SSubstitution - MissenseProstate
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4972323c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM2889295c.3098A>Tp.E1033VSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4991358c.1195C>Tp.P399SSubstitution - MissenseSkin
COSM1155719c.3506C>Tp.S1169FSubstitution - MissenseSkin
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM267971c.2893C>Tp.R965*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM133033c.4189G>Ap.G1397SSubstitution - MissenseKidney
COSM3799428c.1671C>Gp.T557TSubstitution - coding silentUrinary_tract
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3545258c.3817C>Tp.R1273CSubstitution - MissenseUpper_aerodigestive_tract
COSM36205c.3306G>Tp.E1102DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5752146c.1866_1869delGCAGp.Q623fs*79Deletion - FrameshiftBreast
COSM5944377c.1888_1892delCACCAp.H630fs*3Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM53209c.2641_2642insAp.R881fs*13Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5985634c.?p.E1227*Substitution - NonsenseSalivary_gland
COSM5967247c.?p.T822fs*11FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1025736c.3818G>Ap.R1273HSubstitution - MissenseEndometrium
COSM4422839c.1803delGp.E602fs*101Deletion - FrameshiftKidney
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM132975c.?p.L775*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4991368c.1839C>Tp.T613TSubstitution - coding silentSkin
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5574291c.?p.G646fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132980c.?p.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4972323c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM133583c.3503G>Cp.S1168TSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1411087c.2530_2531insCp.S846fs*5Insertion - FrameshiftLarge_intestine
COSM1155724c.?p.R1171RSubstitution - coding silentHaematopoietic_and_lymphoid_tissue
COSM36166c.1772_1773insAp.Y591fs*1Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM307767c.1902_1924del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132978c.?p.R965*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM303906c.2389G>Tp.E797*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM3737035c.1926_1926delAp.G645fs*58Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5731845c.3959C>Tp.A1320VSubstitution - MissenseSoft_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132981c.?p.W796*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1155829c.2618C>Tp.P873LSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4915563c.366A>Gp.E122ESubstitution - coding silentLiver
COSM1180918c.1927delGp.G645fs*58Deletion - FrameshiftBiliary_tract
COSM97033c.2118_2119delTAp.T707fs*10Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1318845c.2756_2757insACCAp.S921fs*4Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51200c.1888_1910del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96347c.?p.G646fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3840732c.3047C>Tp.A1016VSubstitution - MissenseBreast
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsensePancreas
COSM97040c.2485C>Tp.Q829*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4611054c.1935delTp.G646fs*57Deletion - FrameshiftLarge_intestine
COSM133571c.1867C>Tp.Q623*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM51200c.1888_1910del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96347c.?p.G646fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsensePancreas
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132980c.?p.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1741793c.3721G>Ap.E1241KSubstitution - MissenseUrinary_tract
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1716840c.?p.S847fs*4FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4972323c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5879661c.2083_2084insAp.L696fs*22Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1012894c.2083C>Tp.Q695*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM96379c.1917_1990>14p.A640_S664>PCSGGComplex - deletion inframeHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM97189c.2580_2581delAGp.R860fs*3Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM2889263c.1831G>Ap.A611TSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsensePancreas
COSM96396c.1992_1992delCp.S664fs*39Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1716556c.2448_2448delTp.L817fs*1Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5351721c.2030_2031insTp.R678fs*40Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM166416c.?p.S846NSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM256359c.3100A>Gp.K1034ESubstitution - MissenseLarge_intestine
COSM914342c.?p.Y591*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1716171c.2878_2879delTGp.W960fs*9Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM142309c.1945G>Tp.G649*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1577289c.?p.?fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4391402c.124G>Ap.G42RSubstitution - MissenseBreast
COSM1183836c.2266G>Ap.D756NSubstitution - MissenseLarge_intestine
COSM1411087c.2530_2531insCp.S846fs*5Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1012911c.1898_1899insAp.H633fs*2Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36168c.1851_1852insTp.K618fs*1Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3545266c.4032C>Tp.S1344SSubstitution - coding silentSkin
COSM914345c.?p.G642*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM132979c.?p.Q757*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM97034c.2190C>Ap.C730*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1169373c.?p.Q760*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM41704c.2502_2502delTp.T836fs*2Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4385085c.2085_2092delACTACTGCp.Q695fs*20Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftLarge_intestine
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM723125c.2035G>Tp.G679*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1155717c.1815C>Ap.C605*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM97046c.3935C>Tp.A1312VSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1025730c.2593G>Ap.E865KSubstitution - MissenseEndometrium
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132971c.?p.T1018fs*8FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36166c.1772_1773insAp.Y591fs*1Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411069c.1375G>Ap.A459TSubstitution - MissenseLarge_intestine
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM132970c.?p.G659fs*9FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1183838c.4022G>Ap.S1341NSubstitution - MissenseLarge_intestine
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4972326c.?p.L764fs*5FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36166c.1772_1773insAp.Y591fs*1Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM4424219c.1279A>Tp.K427*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4390332c.3184C>Tp.P1062SSubstitution - MissenseUrinary_tract
COSM5731099c.4269G>Ap.E1423ESubstitution - coding silentBreast
COSM5944389c.2401_2403delGAGp.E802delEDeletion - In frameHaematopoietic_and_lymphoid_tissue
COSM4991364c.1782C>Tp.C594CSubstitution - coding silentSkin
COSM5990087c.3632delAp.D1211fs*6Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsensePancreas
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM307769c.1925_1926insAp.G643fs*15Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM110715c.?p.?Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM131571c.?p.N893fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM53204c.2290_2290delCp.L764fs*8Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM110707c.1762C>Tp.Q588*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4385125c.3377A>Gp.H1126RSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132980c.?p.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM132969c.?p.L823*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM914347c.?p.T655fs*2UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM41717c.2302C>Tp.Q768*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM110713c.2110G>Ap.G704RSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5945424c.2779G>Tp.G927*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM2889221c.513A>Gp.R171RSubstitution - coding silentHaematopoietic_and_lymphoid_tissue
COSM133035c.2668C>Tp.L890FSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1196476c.3259T>Cp.Y1087HSubstitution - MissenseLung
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132980c.?p.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1411100c.4328A>Gp.K1443RSubstitution - MissenseLarge_intestine
COSM4385928c.1875_1876insGp.A627fs*8Insertion - FrameshiftLarge_intestine
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3770764c.4462C>Tp.L1488FSubstitution - MissensePancreas
COSM133580c.2222A>Tp.D741VSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1155719c.3506C>Tp.S1169FSubstitution - MissenseSkin
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1012910c.2338C>Tp.Q780*Substitution - NonsenseSalivary_gland
COSM96388c.2147_2147delCp.A716fs*9Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM2889237c.1125G>Tp.V375VSubstitution - coding silentLarge_intestine
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132980c.?p.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4972323c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4960754c.2660C>Tp.T887ISubstitution - MissenseLiver
COSM723127c.1322C>Tp.S441FSubstitution - MissenseLung
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM2889239c.1197A>Tp.P399PSubstitution - coding silentOesophagus
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsensePancreas
COSM96400c.1774C>Tp.Q592*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5944377c.1888_1892delCACCAp.H630fs*3Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132980c.?p.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM2889277c.2423C>Ap.P808HSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM96391c.2254_2255insGp.A752fs*22Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51200c.1888_1910del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3719552c.2422delCp.P808fs*10Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4385071c.1488C>Gp.N496KSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM2889294c.3084G>Ap.S1028SSubstitution - coding silentLarge_intestine
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36205c.3306G>Tp.E1102DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM478002c.462T>Cp.A154ASubstitution - coding silentKidney
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1326816c.2754C>Tp.H918HSubstitution - coding silentOvary
COSM255224c.718+10G>Ap.?UnknownCentral_nervous_system
COSM53200c.1773C>Gp.Y591*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1025724c.1480C>Tp.P494SSubstitution - MissenseEndometrium
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM142306c.1998_1999delTGp.D667fs*3Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1238246c.664G>Ap.E222KSubstitution - MissenseOesophagus
COSM5762836c.4072C>Gp.P1358ASubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4806399c.115G>Cp.E39QSubstitution - MissenseLiver
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM5879680c.4233G>Ap.W1411*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM132983c.?p.N842fs*2FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1180918c.1927delGp.G645fs*58Deletion - FrameshiftLarge_intestine
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5574291c.?p.G646fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5574291c.?p.G646fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4136813c.489A>Cp.K163NSubstitution - MissenseOvary
COSM5391812c.4132C>Ap.L1378ISubstitution - MissenseSkin
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM308525c.2869A>Tp.T957SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5944710c.1769_1770insTTp.Y591fs*113Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4905177c.2170C>Tp.L724LSubstitution - coding silentSkin
COSM3545268c.4146C>Tp.A1382ASubstitution - coding silentLarge_intestine
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1136777c.2928A>Gp.Q976QSubstitution - coding silentKidney
COSM36166c.1772_1773insAp.Y591fs*1Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5945404c.1531C>Tp.P511SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM132975c.?p.L775*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM723125c.2035G>Tp.G679*Substitution - NonsenseLung
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5945402c.1471C>Tp.Q491*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5391810c.3635C>Tp.S1212FSubstitution - MissenseSkin
COSM1315843c.2988_2989insTp.E997fs*1Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM266052c.2110delGp.E705fs*20Deletion - FrameshiftLarge_intestine
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM41714c.3797_3812del16p.L1266fs*9Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1318847c.2197C>Tp.Q733*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM133576c.2332C>Tp.Q778*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM51200c.1888_1910del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51200c.1888_1910del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3545262c.4001C>Tp.P1334LSubstitution - MissenseSkin
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM110714c.3379G>Ap.D1127NSubstitution - MissenseStomach
COSM914362c.?p.Q829*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36205c.3306G>Tp.E1102DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5031017c.1542_1543delTGp.V515fs*13Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5953626c.1738A>Tp.K580*Substitution - NonsenseUpper_aerodigestive_tract
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM97047c.4139_4140delCAp.A1380fs*11Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3799432c.1730C>Gp.S577*Substitution - NonsenseUrinary_tract
COSM1012894c.2083C>Tp.Q695*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM4385115c.2894_2896delGAGp.G967delGDeletion - In frameBone
COSM1012910c.2338C>Tp.Q780*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4134429c.486G>Ap.K162KSubstitution - coding silentThyroid
COSM5914259c.1888C>Tp.H630YSubstitution - MissenseUpper_aerodigestive_tract
COSM51388c.2077C>Tp.R693*Substitution - NonsensePancreas
COSM1245598c.2506A>Cp.T836PSubstitution - MissenseOesophagus
COSM5944124c.1925G>Ap.G642ESubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM53219c.3764C>Gp.S1255*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36205c.3306G>Tp.E1102DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1716892c.3506_3507insTp.L1170fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM6006341c.1466G>Ap.R489QSubstitution - MissenseSkin
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5574291c.?p.G646fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132980c.?p.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1155827c.2309_2310insCp.V771fs*3Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4926930c.1261A>Gp.R421GSubstitution - MissenseLiver
COSM51200c.1888_1910del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4134435c.3759T>Cp.S1253SSubstitution - coding silentSoft_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5762828c.2047_2048insCp.G685fs*33Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132969c.?p.L823*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1717901c.1937_1938insGp.G649fs*9Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM6009013c.?p.R404?UnknownHaematopoietic_and_lymphoid_tissue
COSM1155718c.3319C>Tp.L1107FSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM2270982c.1249C>Tp.R417*Substitution - NonsenseSoft_tissue
COSM166417c.?p.P1277fs*2FrameshiftHaematopoietic_and_lymphoid_tissue
COSM85923c.1934_1934delGp.G645fs*58Deletion - FrameshiftLarge_intestine
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM303907c.1816C>Tp.R606WSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5944721c.2345_2346insCp.P783fs*4Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM6017849c.1923C>Tp.I641ISubstitution - coding silentSkin
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1716914c.1161T>Ap.C387*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM4169775c.1771_1772insAp.Y591fs*1Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1681609c.1773C>Ap.Y591*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM3840728c.1611A>Tp.E537DSubstitution - MissenseBreast
COSM4972320c.?p.R625*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM133567c.1749G>Ap.W583*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM267971c.2893C>Tp.R965*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM96380c.2407C>Tp.Q803*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1155720c.3863G>Ap.G1288DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1183837c.3743C>Tp.A1248VSubstitution - MissenseLarge_intestine
COSM5879669c.2366delGp.C789fs*29Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM144643c.?p.A637fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM723118c.3351C>Tp.P1117PSubstitution - coding silentLung
COSM1737877c.1859_1859delGp.R620fs*83Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51389c.2535_2535delCp.S846fs*21Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1717901c.1937_1938insGp.G649fs*9Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34191c.?p.S1457fs*18FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1155724c.?p.R1171RSubstitution - coding silentHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716840c.?p.S847fs*4FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3720518c.2746A>Tp.R916*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1725000c.2095delCp.P699fs*4Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3963469c.1612A>Gp.K538ESubstitution - MissenseLung
COSM5944122c.2611_2611delTp.S871fs*5Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM6004560c.2151G>Tp.R717SSubstitution - MissenseProstate
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5368402c.4046T>Cp.V1349ASubstitution - MissensePancreas
COSM1155718c.3319C>Tp.L1107FSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1180918c.1927delGp.G645fs*58Deletion - FrameshiftLarge_intestine
COSM1716896c.2463_2464insAp.T822fs*11Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM914360c.?p.T822*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM41712c.2535_2536insCp.S846fs*5Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96400c.1774C>Tp.Q592*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4385135c.3635delCp.L1213fs*4Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5449408c.2039G>Ap.G680DSubstitution - MissenseLarge_intestine
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM52930c.2324T>Gp.L775*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM133036c.3748T>Cp.S1250PSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1012891c.3671G>Cp.R1224TSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM4385100c.2320A>Tp.R774*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36205c.3306G>Tp.E1102DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5031017c.1542_1543delTGp.V515fs*13Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM146261c.2058_2059delGTp.C687fs*30Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1318847c.2197C>Tp.Q733*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1315847c.4382C>Tp.P1461LSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM132978c.?p.R965*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1245600c.3160A>Gp.T1054ASubstitution - MissenseOesophagus
COSM5990044c.3170_3171insTp.G1058fs*29Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5484374c.3107A>Tp.N1036ISubstitution - MissenseLarge_intestine
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132984c.?p.E602*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM373827c.4144G>Tp.A1382SSubstitution - MissenseLung
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5462952c.3509T>Cp.L1170SSubstitution - MissenseLarge_intestine
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM914349c.?p.S663fs*6UnknownHaematopoietic_and_lymphoid_tissue
COSM1315859c.327G>Tp.E109DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5944116c.2383_2383delTp.S795fs*23Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1130659c.3213G>Ap.A1071ASubstitution - coding silentProstate
COSM5945409c.1817G>Ap.R606QSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5019570c.3513G>Ap.R1171RSubstitution - coding silentSoft_tissue
COSM5944377c.1888_1892delCACCAp.H630fs*3Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM6004560c.2151G>Tp.R717SSubstitution - MissenseProstate
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5574291c.?p.G646fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1025720c.488A>Cp.K163TSubstitution - MissenseEndometrium
COSM3701608c.831A>Gp.P277PSubstitution - coding silentLiver
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4097545c.1634G>Ap.R545HSubstitution - MissenseStomach
COSM1681609c.1773C>Ap.Y591*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM41598c.1210C>Tp.R404*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM6004560c.2151G>Tp.R717SSubstitution - MissenseProstate
COSM34212c.2385delCp.W796fs*22Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM723114c.4099G>Ap.V1367ISubstitution - MissenseLung
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM4385080c.1914C>Tp.T638TSubstitution - coding silentHaematopoietic_and_lymphoid_tissue
COSM1180918c.1927delGp.G645fs*58Deletion - FrameshiftLarge_intestine
COSM36204c.3965C>Gp.P1322RSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5944121c.2317G>Tp.E773*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM97039c.2507_2507delCp.T836fs*2Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1716900c.4329_4330insTp.L1444fs*3Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4385691c.1926_1927insAp.G643fs*15Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM4396892c.3399C>Tp.S1133SSubstitution - coding silentSkin
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM110705c.3828_3828delTp.P1277fs*3Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM140258c.2258C>Tp.P753LSubstitution - MissenseSkin
COSM5036077c.3859A>Gp.T1287ASubstitution - MissenseOesophagus
COSM3840724c.1220A>Gp.H407RSubstitution - MissenseBreast
COSM53209c.2641_2642insAp.R881fs*13Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM41716c.1888_1909del22p.H630fs*66Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4385691c.1926_1927insAp.G643fs*15Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5944377c.1888_1892delCACCAp.H630fs*3Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96347c.?p.G646fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM41716c.1888_1909del22p.H630fs*66Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM97041c.2846_2847delGTp.G949fs*5Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM268719c.794G>Ap.R265HSubstitution - MissenseLarge_intestine
COSM1738035c.?p.G642fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftLarge_intestine
COSM4385703c.2708_2709insGAATp.D905fs*2Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4385091c.2185_2188delAGCTp.S729fs*14Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4385107c.2467delTp.L823fs*1Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36205c.3306G>Tp.E1102DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM2270977c.2647G>Tp.E883*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5945419c.2473A>Tp.K825*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132973c.?p.S903*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM131501c.3574G>Tp.E1192*Substitution - NonsenseLiver
COSM5752146c.1866_1869delGCAGp.Q623fs*79Deletion - FrameshiftBreast
COSM132980c.?p.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1283534c.2128G>Tp.G710*Substitution - NonsenseAutonomic_ganglia
COSM914350c.?p.S682fs*36UnknownHaematopoietic_and_lymphoid_tissue
COSM97042c.2898_2900delAGGp.G967delDeletion - In frameHaematopoietic_and_lymphoid_tissue
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM132978c.?p.R965*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34211c.2285_2286insTp.L762fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96381c.2357G>Ap.R786KSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1315844c.3947G>Ap.R1316HSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM3719552c.2422delCp.P808fs*10Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3719552c.2422delCp.P808fs*10Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1681610c.2388G>Tp.W796CSubstitution - MissenseLarge_intestine
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM307768c.1863_1873del11p.L622fs*9Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM110704c.2822_2822delCp.P941fs*4Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36168c.1851_1852insTp.K618fs*1Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM133574c.2100T>Ap.Y700*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM133579c.2095_2096insGCp.P699fs*5Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1578126c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM307767c.1902_1924del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM723134c.160G>Tp.A54SSubstitution - MissenseLung
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5039897c.206G>Ap.G69ESubstitution - MissenseLiver
COSM6006340c.1645C>Tp.R549CSubstitution - MissenseSkin
COSM914357c.?p.E773*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM97035c.2278C>Tp.Q760*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4169422c.?p.P1334LSubstitution - MissenseSkin
COSM231430c.2179G>Ap.E727KSubstitution - MissenseSkin
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4806796c.3282G>Ap.L1094LSubstitution - coding silentPancreas
COSM5648045c.1952G>Ap.G651DSubstitution - MissenseOesophagus
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1738037c.?p.Q695*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4385139c.4069G>Ap.A1357TSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM2270982c.1249C>Tp.R417*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM2889294c.3084G>Ap.S1028SSubstitution - coding silentLarge_intestine
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411089c.2674T>Gp.S892ASubstitution - MissenseLarge_intestine
COSM3371647c.3896G>Ap.G1299DSubstitution - MissenseThyroid
COSM3840730c.2817A>Gp.A939ASubstitution - coding silentBreast
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3707699c.460G>Cp.A154PSubstitution - MissenseLiver
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1180918c.1927delGp.G645fs*58Deletion - FrameshiftOesophagus
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftLarge_intestine
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM166446c.4243C>Tp.R1415*Substitution - NonsenseLarge_intestine
COSM3719373c.2141delCp.R715fs*10Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5675715c.1942G>Tp.G648CSubstitution - MissenseSoft_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96383c.2957A>Gp.N986SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM3545248c.433C>Tp.L145FSubstitution - MissenseSkin
COSM4663893c.2064G>Ap.T688TSubstitution - coding silentLarge_intestine
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4993653c.1813_1814insCp.C605fs*14Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4169559c.?p.A611fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM307767c.1902_1924del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM142308c.1957_1964delGGGGCCACp.G653fs*2Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM110711c.2537G>Ap.S846NSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1025734c.3737T>Ap.V1246DSubstitution - MissenseEndometrium
COSM96347c.?p.G646fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM53207c.2387G>Ap.W796*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1155824c.1992_1993insCp.S665fs*3Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4385707c.4121_4122insGp.P1377fs*3Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5914259c.1888C>Tp.H630YSubstitution - MissenseSkin
COSM914355c.?p.Q748*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4627801c.2541C>Ap.S847SSubstitution - coding silentLarge_intestine
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5881443c.?p.K825*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5494070c.3048T>Cp.A1016ASubstitution - coding silentBiliary_tract
COSM51200c.1888_1910del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM4385113c.2786A>GGp.E929fs*19Complex - frameshiftHaematopoietic_and_lymphoid_tissue
COSM110714c.3379G>Ap.D1127NSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM133573c.1911_1912insCp.T638fs*20Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsensePancreas
COSM1012900c.1900A>Tp.R634*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM723131c.565+1G>Ap.?UnknownLung
COSM1658769c.1927_1928insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3545260c.3843C>Tp.S1281SSubstitution - coding silentSkin
COSM3799425c.1256G>Ap.R419KSubstitution - MissenseUrinary_tract
COSM53206c.2324_2324delTp.L775fs*1Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4663899c.4488C>Gp.S1496RSubstitution - MissenseLarge_intestine
COSM51200c.1888_1910del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM53208c.2415_2415delCp.T806fs*12Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3545258c.3817C>Tp.R1273CSubstitution - MissenseSkin
COSM132970c.?p.G659fs*9FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM914346c.1935_1936insTp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1666941c.?p.S1166RSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5419536c.152C>Tp.S51FSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM914341c.?p.S577*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5808761c.3108T>Cp.N1036NSubstitution - coding silentLiver
COSM914353c.?p.Q733*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4518331c.604_605CC>TTp.P202LSubstitution - MissenseSkin
COSM133578c.1937_1937delGp.G646fs*57Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM914369c.?p.E1426*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5944387c.2381_2384delCTTCp.S795fs*22Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4097559c.2698C>Tp.P900SSubstitution - MissenseStomach
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM52930c.2324T>Gp.L775*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM307767c.1902_1924del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM96347c.?p.G646fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5967231c.?p.C605YSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM308525c.2869A>Tp.T957SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1315840c.2433_2433delTp.N811fs*7Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5574304c.?p.E727*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1155718c.3319C>Tp.L1107FSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5945428c.3179T>Ap.V1060DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4774828c.3083C>Tp.S1028LSubstitution - MissenseBreast
COSM1615450c.1578C>Tp.S526SSubstitution - coding silentLiver
COSM914367c.?p.S989*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM219071c.?p.W898*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM35337c.1830C>Tp.G610GSubstitution - coding silentCentral_nervous_system
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5885194c.?p.M29VSubstitution - MissenseLarge_intestine
COSM132977c.?p.N986SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4972324c.?p.E727fs*17FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1291094c.3824C>Gp.S1275*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5574305c.?p.P808fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM133033c.4189G>Ap.G1397SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM133581c.2862C>Ap.D954ESubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1738035c.?p.G642fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4960754c.2660C>Tp.T887ISubstitution - MissenseLiver
COSM4385093c.2201delGp.A735fs*9Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4097553c.1880C>Tp.A627VSubstitution - MissenseStomach
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM5651846c.1866G>Cp.L622LSubstitution - coding silentHaematopoietic_and_lymphoid_tissue
COSM1234988c.2122C>Tp.Q708*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM85923c.1934_1934delGp.G645fs*58Deletion - FrameshiftLarge_intestine
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsensePancreas
COSM723122c.2688G>Ap.L896LSubstitution - coding silentLung
COSM4972323c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM2889254c.1671C>Tp.T557TSubstitution - coding silentStomach
COSM4097537c.166C>Ap.L56ISubstitution - MissenseStomach
COSM267971c.2893C>Tp.R965*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM53200c.1773C>Gp.Y591*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4775033c.2674_2675insCGGCp.N893fs*2Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftCentral_nervous_system
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1577289c.?p.?fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5881178c.1466delGp.I490fs*213Deletion - FrameshiftSoft_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM132975c.?p.L775*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5990090c.2893delCp.R965fs*19Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34211c.2285_2286insTp.L762fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36205c.3306G>Tp.E1102DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM35337c.1830C>Tp.G610GSubstitution - coding silentCentral_nervous_system
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM53207c.2387G>Ap.W796*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM96382c.1873_1874delCGp.A627fs*7Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM41598c.1210C>Tp.R404*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5879654c.1855_1936del82p.A621fs*55Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM97031c.1963_1976del14p.T655fs*8Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM110702c.2758_2759insAp.P920fs*4Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM41600c.?p.Q976*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132978c.?p.R965*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1169379c.?p.Q708*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1012908c.1879_1880insGp.A627fs*8Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4097569c.4315G>Ap.A1439TSubstitution - MissenseStomach
COSM5057228c.1204C>Tp.R402*Substitution - NonsenseStomach
COSM5351685c.1897_1898insTp.H633fs*2Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4097555c.2382T>Gp.T794TSubstitution - coding silentStomach
COSM3724502c.1190_1191insGp.G398fs*12Insertion - FrameshiftOvary
COSM1012894c.2083C>Tp.Q695*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4134435c.3759T>Cp.S1253SSubstitution - coding silentThyroid
COSM3840736c.3557C>Tp.T1186ISubstitution - MissenseBreast
COSM914365c.?p.P874fs*6FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1471469c.4237T>Gp.L1413VSubstitution - MissenseProstate
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM144186c.2011_2012insGGTGAGGp.A671fs*2Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1315835c.2161_2161delCp.L721fs*4Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4598419c.106C>Gp.Q36ESubstitution - MissenseUpper_aerodigestive_tract
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM267971c.2893C>Tp.R965*Substitution - NonsensePancreas
COSM1716555c.1954G>Ap.G652SSubstitution - MissenseLiver
COSM914343c.?p.C594*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsensePancreas
COSM443638c.3016G>Ap.E1006KSubstitution - MissenseBreast
COSM723126c.1589C>Ap.A530ESubstitution - MissenseLung
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132980c.?p.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1577289c.?p.?fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132978c.?p.R965*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5944377c.1888_1892delCACCAp.H630fs*3Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4921844c.686C>Ap.P229QSubstitution - MissenseLiver
COSM97184c.2428_2440del13p.D810fs*4Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4385073c.1537G>Tp.E513*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM166415c.?p.E1102DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1025721c.731G>Ap.R244HSubstitution - MissenseEndometrium
COSM224027c.2314G>Ap.A772TSubstitution - MissenseSkin
COSM2270978c.2922C>Gp.Y974*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34191c.?p.S1457fs*18FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4832816c.2612C>Gp.S871*Substitution - NonsenseCervix
COSM4385131c.3569G>Ap.R1190KSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132972c.?p.E865*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM132982c.?p.C789fs*29FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1180386c.4568G>Cp.C1523SSubstitution - MissenseProstate
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1666942c.?p.N180TSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4097541c.484A>Gp.K162ESubstitution - MissenseStomach
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1025715c.246G>Ap.T82TSubstitution - coding silentEndometrium
COSM2889266c.1881G>Ap.A627ASubstitution - coding silentLarge_intestine
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34193c.?p.R596fs*23FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411075c.1835G>Tp.R612MSubstitution - MissenseLarge_intestine
COSM52930c.2324T>Gp.L775*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftStomach
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3840734c.3237C>Gp.S1079SSubstitution - coding silentBreast
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3719552c.2422delCp.P808fs*10Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM267971c.2893C>Tp.R965*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM97046c.3935C>Tp.A1312VSubstitution - MissenseBone
COSM4615646c.1934_1935delGTp.G646fs*11Deletion - FrameshiftLarge_intestine
COSM5024935c.370G>Ap.D124NSubstitution - MissenseBreast
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5944379c.2401_2405delGAGGAp.E801fs*19Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1180918c.1927delGp.G645fs*58Deletion - FrameshiftPancreas
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1738014c.1720-1G>Cp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3799436c.3806C>Tp.S1269LSubstitution - MissenseUrinary_tract
COSM4097565c.4119T>Cp.F1373FSubstitution - coding silentStomach
COSM5351712c.4498G>Tp.E1500*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM6019352c.3587C>Tp.A1196VSubstitution - MissenseProstate
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM41600c.?p.Q976*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4134435c.3759T>Cp.S1253SSubstitution - coding silentBiliary_tract
COSM51200c.1888_1910del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1169379c.?p.Q708*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM723125c.2035G>Tp.G679*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4767375c.2926C>Tp.Q976*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5487633c.2091_2092insCp.P699fs*19Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1180918c.1927delGp.G645fs*58Deletion - FrameshiftOesophagus
COSM36169c.2057_2058insAp.C687fs*31Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM914344c.?p.C632fs*23FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsensePancreas
COSM4627799c.924A>Gp.L308LSubstitution - coding silentLarge_intestine
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36166c.1772_1773insAp.Y591fs*1Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1681609c.1773C>Ap.Y591*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM41598c.1210C>Tp.R404*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4476173c.2049C>Tp.T683TSubstitution - coding silentSkin
COSM4991360c.1455T>Cp.S485SSubstitution - coding silentSkin
COSM1012893c.1896C>Ap.C632*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM133034c.1723C>Tp.Q575*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM36205c.3306G>Tp.E1102DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM3378977c.3911T>Ap.L1304HSubstitution - MissensePancreas
COSM4972327c.?p.R786*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1738038c.?p.K160RSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5764406c.157C>Gp.L53VSubstitution - MissenseLarge_intestine
COSM2270982c.1249C>Tp.R417*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM5945396c.199G>Tp.G67*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM914370c.?p.Q1438*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5989742c.2959G>Tp.G987*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM41599c.?p.C687*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM132982c.?p.C789fs*29FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51200c.1888_1910del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1155718c.3319C>Tp.L1107FSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5391807c.892G>Ap.D298NSubstitution - MissenseSkin
COSM4385071c.1488C>Gp.N496KSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1180918c.1927delGp.G645fs*58Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3545250c.608C>Tp.S203FSubstitution - MissenseSkin
COSM85923c.1934_1934delGp.G645fs*58Deletion - FrameshiftLarge_intestine
COSM51388c.2077C>Tp.R693*Substitution - NonsensePancreas
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1717902c.2498_2501delGTCAp.S833fs*4Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132978c.?p.R965*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1025728c.1979G>Ap.G660DSubstitution - MissenseEndometrium
COSM132974c.?p.Q780*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM53215c.4127_4128insGp.P1377fs*3Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM133577c.2348_2349insTp.D784fs*3Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM307768c.1863_1873del11p.L622fs*9Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96395c.2525_2525delAp.N842fs*2Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4972323c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5885195c.?p.E100KSubstitution - MissenseLarge_intestine
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM110714c.3379G>Ap.D1127NSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36205c.3306G>Tp.E1102DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsensePancreas
COSM4001871c.3931G>Ap.A1311TSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM914345c.?p.G642*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM97187c.?p.S895delDeletion - In frameHaematopoietic_and_lymphoid_tissue
COSM36166c.1772_1773insAp.Y591fs*1Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5486129c.3152G>Ap.R1051HSubstitution - MissenseLarge_intestine
COSM1716840c.?p.S847fs*4FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5762834c.3967A>Gp.M1323VSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM96382c.1873_1874delCGp.A627fs*7Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4611054c.1935delTp.G646fs*57Deletion - FrameshiftLarge_intestine
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM97030c.1915_1928del14p.T639fs*14Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3378977c.3911T>Ap.L1304HSubstitution - MissensePancreas
COSM3840740c.4008G>Ap.G1336GSubstitution - coding silentBreast
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3911095c.395C>Tp.S132LSubstitution - MissenseSkin
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4136815c.3012C>Ap.D1004ESubstitution - MissenseOvary
COSM5731844c.1008G>Tp.R336SSubstitution - MissenseSoft_tissue
COSM166415c.?p.E1102DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM96386c.1978_1980delGGCp.G660delDeletion - In frameHaematopoietic_and_lymphoid_tissue
COSM1738034c.?p.P938fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM53215c.4127_4128insGp.P1377fs*3Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM85923c.1934_1934delGp.G645fs*58Deletion - FrameshiftLarge_intestine
COSM4385095c.2209delGp.V737fs*7Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4385127c.3512delGp.A1172fs*2Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5574291c.?p.G646fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM914356c.?p.Q748fs*24FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51200c.1888_1910del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM35337c.1830C>Tp.G610GSubstitution - coding silentCentral_nervous_system
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4972323c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1155722c.3935C>Ap.A1312ESubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4663889c.1645delCp.R549fs*154Deletion - FrameshiftLarge_intestine
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM41600c.?p.Q976*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM97035c.2278C>Tp.Q760*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3545254c.2518C>Tp.P840SSubstitution - MissenseSkin
COSM1716555c.1954G>Ap.G652SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsensePancreas
COSM96519c.1776_1840del65p.Q592fs*5Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1025729c.2592C>Tp.D864DSubstitution - coding silentEndometrium
COSM3799434c.3269G>Cp.R1090TSubstitution - MissenseUrinary_tract
COSM914352c.?p.S729fs*15UnknownHaematopoietic_and_lymphoid_tissue
COSM1169701c.?p.E635fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM97040c.2485C>Tp.Q829*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1315834c.1972G>Tp.G658*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM41711c.2661C>TGp.K888fs*6Complex - frameshiftHaematopoietic_and_lymphoid_tissue
COSM132981c.?p.W796*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM142307c.2030_2046del17p.P677fs*35Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411070c.1500C>Tp.A500ASubstitution - coding silentLarge_intestine
COSM1318847c.2197C>Tp.Q733*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM219085c.?p.Q588*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4648388c.3102A>Gp.K1034KSubstitution - coding silentLarge_intestine
COSM5762830c.2124_2125insGCp.G710fs*16Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1155721c.3779G>Cp.G1260ASubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5501304c.1932G>Cp.G644GSubstitution - coding silentBiliary_tract
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM97040c.2485C>Tp.Q829*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM53202c.1900_1901insAp.R634fs*24Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4134435c.3759T>Cp.S1253SSubstitution - coding silentSoft_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM126561c.1730C>Ap.S577*Substitution - NonsenseUpper_aerodigestive_tract
COSM4481200c.2491C>Tp.L831FSubstitution - MissenseSkin
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM303907c.1816C>Tp.R606WSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM303906c.2389G>Tp.E797*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4611054c.1935delTp.G646fs*57Deletion - FrameshiftLarge_intestine
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4385699c.2638_2639insAp.T880fs*2Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96347c.?p.G646fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1012900c.1900A>Tp.R634*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132971c.?p.T1018fs*8FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1716906c.4552delGp.G1518fs*23Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4434293c.1232G>Ap.R411HSubstitution - MissenseOesophagus
COSM53208c.2415_2415delCp.T806fs*12Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1169701c.?p.E635fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM914364c.?p.S846fs*21FrameshiftHaematopoietic_and_lymphoid_tissue
COSM219085c.?p.Q588*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1025717c.427C>Tp.R143*Substitution - NonsenseEndometrium
COSM5879650c.1827_1828insGp.A611fs*8Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5802930c.2873C>Ap.S958*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM96401c.2083_2084delCAp.Q695fs*22Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM2270979c.2117_2118insAp.H706fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5989658c.2466delAp.L823fs*1Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1315838c.2310_2311delAGp.V771fs*2Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36207c.4127G>Ap.G1376DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM96347c.?p.G646fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96393c.1976G>Ap.G659DSubstitution - MissenseBreast
COSM97045c.2400T>Gp.D800ESubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1411071c.1609G>Ap.E537KSubstitution - MissenseLarge_intestine
COSM1716903c.2384delCp.W796fs*22Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftBreast
COSM97035c.2278C>Tp.Q760*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM41597c.1899_1921del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM110707c.1762C>Tp.Q588*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM133576c.2332C>Tp.Q778*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4097543c.1452G>Cp.E484DSubstitution - MissenseStomach
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM443635c.2175A>Gp.R725RSubstitution - coding silentBreast
COSM1180918c.1927delGp.G645fs*58Deletion - FrameshiftBiliary_tract
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132969c.?p.L823*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM3840738c.3864T>Cp.G1288GSubstitution - coding silentBreast
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM5989986c.1636C>Tp.Q546*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM110713c.2110G>Ap.G704RSubstitution - MissenseKidney
COSM1716903c.2384delCp.W796fs*22Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5944377c.1888_1892delCACCAp.H630fs*3Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsensePancreas
COSM3799430c.1690A>Tp.K564*Substitution - NonsenseUrinary_tract
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1318847c.2197C>Tp.Q733*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM5967249c.?p.G869fs*8FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96347c.?p.G646fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3545252c.1700C>Tp.P567LSubstitution - MissenseSkin
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1238245c.589G>Ap.G197SSubstitution - MissenseOesophagus
COSM3363187c.3966G>Tp.P1322PSubstitution - coding silentKidney
COSM133035c.2668C>Tp.L890FSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM723123c.2208A>Tp.T736TSubstitution - coding silentLung
COSM1737879c.2149_2149delAp.R717fs*8Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM2889251c.1633delCp.R545fs*158Deletion - FrameshiftCentral_nervous_system
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36205c.3306G>Tp.E1102DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4972322c.?p.G645fs*1FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1738031c.?p.Q592*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1025718c.472G>Ap.A158TSubstitution - MissenseEndometrium
COSM1180918c.1927delGp.G645fs*58Deletion - FrameshiftStomach
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM291954c.1492G>Tp.A498SSubstitution - MissenseLarge_intestine
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132980c.?p.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4385069c.1225A>Tp.K409*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51200c.1888_1910del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1155823c.3751C>Tp.Q1251*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM133033c.4189G>Ap.G1397SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132980c.?p.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4169778c.2144_2145insAp.A716fs*2Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4134435c.3759T>Cp.S1253SSubstitution - coding silentSoft_tissue
COSM51200c.1888_1910del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5945400c.1282C>Tp.Q428*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM97036c.2429_2429delAp.D810fs*8Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34212c.2385delCp.W796fs*22Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4937113c.3124C>Tp.P1042SSubstitution - MissenseLiver
COSM4991356c.669C>Tp.V223VSubstitution - coding silentSkin
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM723125c.2035G>Tp.G679*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM132980c.?p.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4385696c.2323_2324insAp.L775fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132982c.?p.C789fs*29FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5879656c.1931_1932insGGGTp.P647fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1025719c.473C>Tp.A158VSubstitution - MissenseBone
COSM1025723c.1423G>Ap.D475NSubstitution - MissenseEndometrium
COSM133568c.1779_1780insAp.C594fs*25Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM4134431c.1169G>Tp.G390VSubstitution - MissenseThyroid
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM133569c.1786_1787insCp.R596fs*23Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1724992c.2253_2254insGp.A752fs*22Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM914354c.?p.L743fs*55FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM5680713c.3696A>Tp.K1232NSubstitution - MissenseSoft_tissue
COSM1025726c.1876_1885del10p.G626fs*74Deletion - FrameshiftEndometrium
COSM4856226c.3991C>Tp.P1331SSubstitution - MissenseCervix
COSM1681609c.1773C>Ap.Y591*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5944120c.2309_2309delCp.S770fs*1Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1012903c.4394A>Gp.K1465RSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM53203c.1918_1928del11p.A640fs*14Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1183833c.74C>Tp.S25LSubstitution - MissenseLarge_intestine
COSM5879652c.1849_1850insTp.K618fs*1Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1234988c.2122C>Tp.Q708*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4097567c.4242C>Tp.P1414PSubstitution - coding silentStomach
COSM132972c.?p.E865*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM132983c.?p.N842fs*2FrameshiftHaematopoietic_and_lymphoid_tissue
COSM159235c.3187C>Tp.Q1063*Substitution - NonsenseBreast
COSM4385119c.3005delCp.S1003fs*21Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM133575c.2254_2255GC>Tp.A752fs*20Complex - frameshiftHaematopoietic_and_lymphoid_tissue
COSM3707701c.1542T>Cp.T514TSubstitution - coding silentLiver
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM110710c.1924G>Tp.G642*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1315834c.1972G>Tp.G658*Substitution - NonsensePancreas
COSM132980c.?p.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM146261c.2058_2059delGTp.C687fs*30Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM133585c.1850T>Cp.I617TSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1183835c.904C>Tp.R302CSubstitution - MissenseLarge_intestine
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1411071c.1609G>Ap.E537KSubstitution - MissenseLarge_intestine
COSM4385089c.2153delGp.R718fs*7Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5967241c.?p.L1170fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4397819c.3218G>Tp.R1073LSubstitution - MissenseSkin
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM219104c.2944_2944delAp.K982fs*2Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM35337c.1830C>Tp.G610GSubstitution - coding silentCentral_nervous_system
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1738040c.?p.S1255*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1155719c.3506C>Tp.S1169FSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1681609c.1773C>Ap.Y591*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM85923c.1934_1934delGp.G645fs*58Deletion - FrameshiftLarge_intestine
COSM4604442c.160G>Ap.A54TSubstitution - MissenseUpper_aerodigestive_tract
COSM5944385c.2263delGp.D756fs*16Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM97188c.?p.A752fs*20FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM110704c.2822_2822delCp.P941fs*4Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36204c.3965C>Gp.P1322RSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM110712c.2541_2541delCp.T848fs*19Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96400c.1774C>Tp.Q592*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM41598c.1210C>Tp.R404*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1012906c.2346_2374del29p.H782fs*8Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96347c.?p.G646fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM2889284c.2720T>Cp.V907ASubstitution - MissenseLarge_intestine
COSM3707701c.1542T>Cp.T514TSubstitution - coding silentLiver
COSM51388c.2077C>Tp.R693*Substitution - NonsenseLarge_intestine
COSM51388c.2077C>Tp.R693*Substitution - NonsensePancreas
COSM97042c.2898_2900delAGGp.G967delDeletion - In frameHaematopoietic_and_lymphoid_tissue
COSM145114c.1552G>Tp.E518*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM2270981c.3110G>Ap.W1037*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5990041c.1991_1992insCp.S665fs*3Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1738036c.?p.W1037fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36166c.1772_1773insAp.Y591fs*1Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3371645c.2226G>Cp.G742GSubstitution - coding silentThyroid
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3545256c.2873C>Tp.S958LSubstitution - MissenseSkin
COSM350175c.2434G>Tp.G812CSubstitution - MissenseLung
COSM41597c.1899_1921del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM110707c.1762C>Tp.Q588*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM159233c.4016G>Ap.G1339ESubstitution - MissenseBreast
COSM5944381c.1371delCp.P458fs*4Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftSalivary_gland
COSM5471178c.2093C>Tp.P698LSubstitution - MissenseLarge_intestine
COSM5944715c.2060_2061insTp.T688fs*30Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4796125c.675G>Ap.Q225QSubstitution - coding silentLiver
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36206c.2431A>Gp.N811DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM97043c.3135_3136ins131p.V1046fs*22Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM145115c.2512A>Tp.K838*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4291166c.1331C>Ap.S444*Substitution - NonsenseLarge_intestine
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM133587c.2597T>Cp.L866SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1326817c.555A>Gp.E185ESubstitution - coding silentOvary
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM914342c.?p.Y591*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1012908c.1879_1880insGp.A627fs*8Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM133572c.1903G>Tp.E635*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1012892c.2101_2107delCCTCTAAp.P701fs*22Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3719083c.1438G>Tp.E480*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM97037c.2464_2465insAp.T822fs*11Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM723129c.858C>Tp.F286FSubstitution - coding silentLung
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM110708c.1782C>Ap.C594*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5944377c.1888_1892delCACCAp.H630fs*3Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3785380c.2034G>Tp.R678SSubstitution - MissensePancreas
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51200c.1888_1910del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3939300c.2302C>Gp.Q768ESubstitution - MissenseOesophagus
COSM6004560c.2151G>Tp.R717SSubstitution - MissenseProstate
COSM356944c.1763A>Gp.Q588RSubstitution - MissenseLung
COSM110706c.1969G>Tp.E657*Substitution - NonsenseCentral_nervous_system
COSM2270978c.2922C>Gp.Y974*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1577289c.?p.?fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3423575c.3299C>Ap.S1100*Substitution - NonsenseLarge_intestine
COSM443639c.3593G>Tp.G1198VSubstitution - MissenseBreast
COSM279013c.124G>Tp.G42*Substitution - NonsenseLarge_intestine
COSM144642c.?p.E558*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1716555c.1954G>Ap.G652SSubstitution - MissenseLiver
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132969c.?p.L823*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5879673c.2431delAp.N811fs*7Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM914366c.?p.S989fs*8FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5879671c.2413delCp.T806fs*12Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4097563c.3010G>Ap.D1004NSubstitution - MissenseStomach
COSM53215c.4127_4128insGp.P1377fs*3Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5814728c.1253C>Gp.T418SSubstitution - MissenseLiver
COSM133576c.2332C>Tp.Q778*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4385076c.1861G>Tp.A621SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM96347c.?p.G646fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM6009014c.?p.Y700?UnknownHaematopoietic_and_lymphoid_tissue
COSM34211c.2285_2286insTp.L762fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM97032c.2061_2061delTp.C687fs*1Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM914346c.1935_1936insTp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3840726c.1320A>Gp.K440KSubstitution - coding silentBreast
COSM5883542c.2168C>Tp.S723FSubstitution - MissenseSkin
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM97187c.?p.S895delDeletion - In frameHaematopoietic_and_lymphoid_tissue
COSM914342c.?p.Y591*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5462950c.1496G>Ap.R499HSubstitution - MissenseLarge_intestine
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36205c.3306G>Tp.E1102DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1307275c.1630G>Ap.D544NSubstitution - MissenseUrinary_tract
COSM132981c.?p.W796*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1411073c.1719G>Ap.R573RSubstitution - coding silentLarge_intestine
COSM34212c.2385delCp.W796fs*22Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM723127c.1322C>Tp.S441FSubstitution - MissenseSkin
COSM5555072c.768G>Tp.G256GSubstitution - coding silentProstate
COSM1716555c.1954G>Ap.G652SSubstitution - MissenseBreast
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM145114c.1552G>Tp.E518*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4991366c.1783C>Tp.P595SSubstitution - MissenseSkin
COSM51200c.1888_1910del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM133567c.1749G>Ap.W583*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM41597c.1899_1921del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM443636c.2587G>Cp.D863HSubstitution - MissenseBreast
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM4169895c.4048C>Tp.Q1350*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM303941c.1903_1925del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4991372c.2338C>Gp.Q780ESubstitution - MissenseSkin
COSM3545264c.4031C>Tp.S1344FSubstitution - MissenseSkin
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsensePancreas
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96348c.2423_2424insCp.A809fs*13Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4134435c.3759T>Cp.S1253SSubstitution - coding silentSoft_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM97044c.2395G>Tp.D799YSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4385705c.3187_3188insAp.S1064fs*23Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM6004560c.2151G>Tp.R717SSubstitution - MissenseProstate
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1012905c.3115C>Tp.Q1039*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM132975c.?p.L775*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132978c.?p.R965*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1716840c.?p.S847fs*4FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM219096c.1910_1932del23p.A637fs*13Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4385119c.3005delCp.S1003fs*21Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5981689c.1438G>Ap.E480KSubstitution - MissenseUpper_aerodigestive_tract
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM41715c.3202C>Tp.R1068*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM3693431c.4520C>Tp.A1507VSubstitution - MissenseLarge_intestine
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM5945417c.2426C>Tp.A809VSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM253321c.?p.R634fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM133584c.3793G>Tp.D1265YSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM2889266c.1881G>Ap.A627ASubstitution - coding silentLarge_intestine
COSM4291203c.2126C>Tp.A709VSubstitution - MissenseOesophagus
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM443637c.2709G>Tp.S903SSubstitution - coding silentBreast
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM723120c.3350C>Tp.P1117LSubstitution - MissenseLung
COSM4385078c.1900A>CGGAGp.E635fs*24Complex - frameshiftHaematopoietic_and_lymphoid_tissue
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM133570c.1793_1794TC>Ap.I598fs*105Complex - frameshiftHaematopoietic_and_lymphoid_tissue
COSM5945876c.3458_3458delAp.H1153fs*18Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4437703c.1838delCp.L614fs*89Deletion - FrameshiftOesophagus
COSM145115c.2512A>Tp.K838*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5945422c.2693G>Ap.W898*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsensePancreas
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4385107c.2467delTp.L823fs*1Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5944723c.2921_2922insAp.Y974fs*1Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4385694c.2316_2317insTp.E773fs*1Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM914342c.?p.Y591*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM3719552c.2422delCp.P808fs*10Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5944383c.1827delTp.G610fs*93Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM110713c.2110G>Ap.G704RSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5391814c.4218G>Ap.M1406ISubstitution - MissenseSkin
COSM329152c.163T>Ap.C55SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM132978c.?p.R965*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4385115c.2894_2896delGAGp.G967delGDeletion - In frameHaematopoietic_and_lymphoid_tissue
COSM1155825c.2113_2113delGp.E705fs*20Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1315836c.2208_2209insCAp.V737fs*8Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4972329c.?p.P920fs*2FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1315837c.2290_2291insCp.L764fs*10Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4097547c.1646G>Ap.R549HSubstitution - MissenseStomach
COSM914342c.?p.Y591*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM51200c.1888_1910del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1737875c.3595G>Ap.A1199TSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1318847c.2197C>Tp.Q733*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5985454c.2281G>Ap.A761TSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1565849c.3195G>Ap.W1065*Substitution - NonsenseLarge_intestine
COSM4385689c.1633_1634insCp.R545fs*6Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1012899c.2113G>Tp.E705*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM2889296c.3151C>Tp.R1051CSubstitution - MissenseLarge_intestine
COSM5944377c.1888_1892delCACCAp.H630fs*3Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM97186c.(2250_2252)insCp.V751fs*23Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5879648c.1748G>Ap.W583*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM41717c.2302C>Tp.Q768*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4097551c.1803G>Ap.T601TSubstitution - coding silentStomach
COSM5879658c.1934_1935insTp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5944385c.2263delGp.D756fs*16Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5726267c.862C>Tp.L288LSubstitution - coding silentSkin
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1025733c.3682G>Tp.E1228*Substitution - NonsenseLarge_intestine
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM35337c.1830C>Tp.G610GSubstitution - coding silentOesophagus
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM133033c.4189G>Ap.G1397SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM132980c.?p.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1717900c.2598A>Gp.L866LSubstitution - coding silentHaematopoietic_and_lymphoid_tissue
COSM1717900c.2598A>Gp.L866LSubstitution - coding silentHaematopoietic_and_lymphoid_tissue
COSM5575746c.4391C>Gp.P1464RSubstitution - MissenseStomach
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM253322c.?p.G966_G967delDeletion - In frameHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96385c.2331_2332insGGAGp.Q778fs*10Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1180918c.1927delGp.G645fs*58Deletion - FrameshiftLarge_intestine
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36205c.3306G>Tp.E1102DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM133582c.3416C>Ap.T1139KSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4169780c.2883_2884delTGp.V962fs*7Deletion - FrameshiftBiliary_tract
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM443634c.1534C>Tp.Q512*Substitution - NonsenseBreast
COSM132977c.?p.N986SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1155826c.2123A>Tp.Q708LSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36205c.3306G>Tp.E1102DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4385123c.3139A>Tp.N1047YSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96390c.1915_1932>19p.T639fs*19Complex - frameshiftHaematopoietic_and_lymphoid_tissue
COSM5020318c.2513A>Gp.K838RSubstitution - MissenseSoft_tissue
COSM3545270c.4175C>Tp.P1392LSubstitution - MissenseSkin
COSM142310c.1927_1928insAp.G643fs*15Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411072c.1698G>Ap.E566ESubstitution - coding silentLarge_intestine
COSM41716c.1888_1909del22p.H630fs*66Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM53200c.1773C>Gp.Y591*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1012902c.1855_1865del11p.R620fs*11Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM914371c.?p.(574_1542)fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1180918c.1927delGp.G645fs*58Deletion - FrameshiftStomach
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM133033c.4189G>Ap.G1397SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM303906c.2389G>Tp.E797*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1012899c.2113G>Tp.E705*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM132980c.?p.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4385117c.2919delTp.Y974fs*10Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34212c.2385delCp.W796fs*22Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1025727c.1932G>Tp.G644GSubstitution - coding silentEndometrium
COSM914342c.?p.Y591*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM219078c.?p.R404*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1716170c.2640_2640delTp.R881fs*5Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5462950c.1496G>Ap.R499HSubstitution - MissenseProstate
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM914346c.1935_1936insTp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5833949c.1851_1852insAp.A619fs*16Insertion - FrameshiftBreast
COSM6004560c.2151G>Tp.R717SSubstitution - MissenseProstate
COSM53206c.2324_2324delTp.L775fs*1Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM224027c.2314G>Ap.A772TSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51200c.1888_1910del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM5944119c.2950A>Tp.K984*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5944391c.2473delAp.G826fs*12Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3799438c.3835G>Ap.V1279MSubstitution - MissenseUrinary_tract
COSM4611054c.1935delTp.G646fs*57Deletion - FrameshiftLarge_intestine
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM97046c.3935C>Tp.A1312VSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM219097c.1902_1923del22p.A636fs*60Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4385064c.1123G>Ap.V375MSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM723115c.3934G>Tp.A1312SSubstitution - MissenseLung
COSM110714c.3379G>Ap.D1127NSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96383c.2957A>Gp.N986SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5879665c.2118_2119insACp.Q708fs*18Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411087c.2530_2531insCp.S846fs*5Insertion - FrameshiftLarge_intestine
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM5945426c.2880G>Ap.W960*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM131570c.?p.R634fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4385137c.3988C>Tp.P1330SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM41990c.4183C>Gp.L1395VSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5914261c.883-8C>Tp.?UnknownSkin
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1012898c.2654_2655insGAAAACTTp.K888fs*1Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36166c.1772_1773insAp.Y591fs*1Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132879c.2555C>Ap.S852*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3728527c.4482T>Cp.T1494TSubstitution - coding silentStomach
COSM5986133c.1564C>Tp.Q522*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4169557c.?p.R661fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96348c.2423_2424insCp.A809fs*13Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3719083c.1438G>Tp.E480*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1717902c.2498_2501delGTCAp.S833fs*4Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM142310c.1927_1928insAp.G643fs*15Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5944717c.2085_2086insGp.L696fs*22Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM914355c.?p.Q748*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4663897c.3941delTp.Q1315fs*135Deletion - FrameshiftLarge_intestine
COSM51388c.2077C>Tp.R693*Substitution - NonsensePancreas
COSM51388c.2077C>Tp.R693*Substitution - NonsenseCentral_nervous_system
COSM298273c.3933_3934insGp.A1312fs*17Insertion - FrameshiftLarge_intestine
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4972326c.?p.L764fs*5FrameshiftHaematopoietic_and_lymphoid_tissue
COSM110703c.2026G>Tp.E676*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM914368c.?p.R1415*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM53210c.2921_2922insTCTTp.C975fs*8Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM133580c.2222A>Tp.D741VSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5945679c.2129_2129delGp.G710fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3719865c.2160delCp.L721fs*4Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1681610c.2388G>Tp.W796CSubstitution - MissenseLarge_intestine
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4097549c.1710G>Ap.P570PSubstitution - coding silentStomach
COSM4134427c.481C>Ap.Q161KSubstitution - MissenseThyroid
COSM5574303c.?p.Q768*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4952486c.144-2A>Gp.?UnknownLiver
COSM51200c.1888_1910del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM339753c.3598C>Tp.P1200SSubstitution - MissenseSkin
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5990080c.2127delCp.G710fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5944117c.1907C>Tp.A636VSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1315841c.2577_2577delCp.N859fs*8Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM35337c.1830C>Tp.G610GSubstitution - coding silentCentral_nervous_system
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM53200c.1773C>Gp.Y591*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM291954c.1492G>Tp.A498SSubstitution - MissenseKidney
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51200c.1888_1910del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4991362c.1707C>Tp.V569VSubstitution - coding silentSkin
COSM2270982c.1249C>Tp.R417*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4385129c.3518T>Cp.L1173SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsensePancreas
COSM96392c.1915_1978>13p.T639_G659>PPWDComplex - deletion inframeHaematopoietic_and_lymphoid_tissue
COSM1738032c.?p.S852*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM478004c.4622G>Cp.R1541TSubstitution - MissenseKidney
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM41715c.3202C>Tp.R1068*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM51200c.1888_1910del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1737384c.2561C>Ap.T854NSubstitution - MissenseCentral_nervous_system
COSM914348c.?p.E657*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5879667c.2280delGp.A761fs*11Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4134435c.3759T>Cp.S1253SSubstitution - coding silentSoft_tissue
COSM96347c.?p.G646fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1025740c.4471C>Tp.Q1491*Substitution - NonsenseEndometrium
COSM2889288c.2813C>Gp.P938RSubstitution - MissenseLarge_intestine
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4134435c.3759T>Cp.S1253SSubstitution - coding silentSoft_tissue
COSM2889312c.4514A>Tp.Q1505LSubstitution - MissenseLarge_intestine
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM131572c.(2896_2901)del3p.G967delDeletion - In frameHaematopoietic_and_lymphoid_tissue
COSM4097557c.2484C>Tp.G828GSubstitution - coding silentStomach
COSM723116c.3633C>Ap.D1211ESubstitution - MissenseLung
COSM1737876c.2125G>Ap.A709TSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM110706c.1969G>Tp.E657*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM41716c.1888_1909del22p.H630fs*66Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsensePancreas
COSM53207c.2387G>Ap.W796*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM97085c.2388G>Ap.W796*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5945680c.2999A>Gp.D1000GSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftStomach
COSM4994275c.3898C>Tp.Q1300*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1012904c.2639C>Gp.T880SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM96391c.2254_2255insGp.A752fs*22Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1025732c.3626G>Ap.S1209NSubstitution - MissenseEndometrium
COSM4385066c.1205G>Ap.R402QSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM41598c.1210C>Tp.R404*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1681609c.1773C>Ap.Y591*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsensePancreas
COSM723121c.3343A>Gp.S1115GSubstitution - MissenseLung
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM133579c.2095_2096insGCp.P699fs*5Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4991355c.24G>Ap.K8KSubstitution - coding silentSkin
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM36205c.3306G>Tp.E1102DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsensePancreas
COSM53218c.4364_4364delAp.N1455fs*20Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1318847c.2197C>Tp.Q733*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4097571c.4399C>Ap.L1467ISubstitution - MissenseStomach
COSM41715c.3202C>Tp.R1068*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM36167c.2423delCp.P808fs*10Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51200c.1888_1910del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM110715c.?p.?Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132975c.?p.L775*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1315839c.2355_2355delTp.R786fs*32Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM35337c.1830C>Tp.G610GSubstitution - coding silentCentral_nervous_system
COSM238866c.2250delCp.V751fs*21Deletion - FrameshiftProstate
COSM5879678c.4116_4117delTTp.F1373fs*6Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM914351c.?p.T707fs*21UnknownHaematopoietic_and_lymphoid_tissue
COSM144640c.?p.E1192*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4134435c.3759T>Cp.S1253SSubstitution - coding silentSoft_tissue
COSM51200c.1888_1910del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM345125c.2655G>Ap.L885LSubstitution - coding silentLung
COSM1716903c.2384delCp.W796fs*22Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4611054c.1935delTp.G646fs*57Deletion - FrameshiftLarge_intestine
COSM219101c.?p.C856*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM6017847c.1873C>Tp.R625*Substitution - NonsenseSkin
COSM4134433c.1565A>Tp.Q522LSubstitution - MissenseThyroid
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96394c.1850_1851insAp.K618fs*1Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseCentral_nervous_system
COSM1578126c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM51200c.1888_1910del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1155725c.?p.(K1302_K1303)LSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5985563c.2594delAp.E865fs*2Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132980c.?p.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM253321c.?p.R634fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5879678c.4116_4117delTTp.F1373fs*6Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftCentral_nervous_system
COSM4385121c.3121G>Ap.A1041TSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM166446c.4243C>Tp.R1415*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1315845c.4285T>Gp.S1429ASubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM145115c.2512A>Tp.K838*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1012910c.2338C>Tp.Q780*Substitution - NonsenseSalivary_gland
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM110707c.1762C>Tp.Q588*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM36166c.1772_1773insAp.Y591fs*1Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34192c.?p.G646fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM110708c.1782C>Ap.C594*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM3719466c.2147delCp.A716fs*9Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132990c.?p.G645fs*12FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4619124c.581A>Cp.H194PSubstitution - MissenseLarge_intestine
COSM4911407c.3107A>Gp.N1036SSubstitution - MissenseLiver
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM339095c.1346A>Gp.Y449CSubstitution - MissenseLung
COSM132978c.?p.R965*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM79521c.243C>Tp.F81FSubstitution - coding silentOvary
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1685366c.?p.G643fs*13FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5944118c.2687T>Ap.L896*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1012901c.2835_2835delAp.A946fs*5Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4663895c.3740G>Ap.R1247HSubstitution - MissenseLarge_intestine
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96384c.3148A>Gp.M1050VSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1307272c.168C>Gp.L56LSubstitution - coding silentUrinary_tract
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1025714c.103C>Ap.L35MSubstitution - MissenseEndometrium
COSM1025733c.3682G>Tp.E1228*Substitution - NonsenseEndometrium
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1685366c.?p.G643fs*13FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3991628c.308A>Gp.E103GSubstitution - MissenseKidney
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM267971c.2893C>Tp.R965*Substitution - NonsenseLarge_intestine
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM110710c.1924G>Tp.G642*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM307766c.2242C>Tp.Q748*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5944377c.1888_1892delCACCAp.H630fs*3Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM478001c.272C>Gp.S91CSubstitution - MissenseKidney
COSM34193c.?p.R596fs*23FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3720601c.1769_1770insTp.Y591fs*28Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5030975c.2538_2539insTp.S847fs*4Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM4640266c.3851C>Gp.P1284RSubstitution - MissenseLarge_intestine
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM110707c.1762C>Tp.Q588*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1245599c.1736T>Gp.I579SSubstitution - MissenseOesophagus
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM133583c.3503G>Cp.S1168TSubstitution - MissenseUpper_aerodigestive_tract
COSM34212c.2385delCp.W796fs*22Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36166c.1772_1773insAp.Y591fs*1Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM2889260c.1787delGp.I597fs*106Deletion - FrameshiftSoft_tissue
COSM4796125c.675G>Ap.Q225QSubstitution - coding silentLiver
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM97045c.2400T>Gp.D800ESubstitution - MissenseBone
COSM3719466c.2147delCp.A716fs*9Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4770116c.2210T>Cp.V737ASubstitution - MissenseBiliary_tract
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM132980c.?p.R693*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM914355c.?p.Q748*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5030986c.1318A>Cp.K440QSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1025719c.473C>Tp.A158VSubstitution - MissenseLarge_intestine
COSM4385109c.2572C>Tp.Q858*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM132968c.?p.E635fs*15FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM97042c.2898_2900delAGGp.G967delDeletion - In frameHaematopoietic_and_lymphoid_tissue
COSM5981687c.1108T>Ap.S370TSubstitution - MissenseUpper_aerodigestive_tract
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1738033c.?p.A627fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM2270982c.1249C>Tp.R417*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1012910c.2338C>Tp.Q780*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1318846c.2212delGp.G738fs*6Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3545268c.4146C>Tp.A1382ASubstitution - coding silentSkin
COSM1411076c.1926_1927insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM307767c.1902_1924del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM133037c.2066C>Gp.S689*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM3734998c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM36165c.1900_1922del23p.E635fs*15Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM51388c.2077C>Tp.R693*Substitution - NonsensePancreas
COSM1025716c.359G>Ap.S120NSubstitution - MissenseEndometrium
COSM4433661c.634C>Tp.L212LSubstitution - coding silentOesophagus
COSM132991c.?p.E797fs*3FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4972325c.?p.T736fs*8FrameshiftHaematopoietic_and_lymphoid_tissue
COSM36166c.1772_1773insAp.Y591fs*1Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4134435c.3759T>Cp.S1253SSubstitution - coding silentSoft_tissue
COSM4134435c.3759T>Cp.S1253SSubstitution - coding silentSoft_tissue
COSM1155830c.2074C>Tp.Q692*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM96347c.?p.G646fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM267971c.2893C>Tp.R965*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM34210c.1934_1935insGp.G646fs*12Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5944377c.1888_1892delCACCAp.H630fs*3Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM96399c.?p.?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1738035c.?p.G642fs*?FrameshiftHaematopoietic_and_lymphoid_tissue
COSM133576c.2332C>Tp.Q778*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM914342c.?p.Y591*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4134435c.3759T>Cp.S1253SSubstitution - coding silentSoft_tissue
> Text Mining based Variations
 
PMID Variation Cancer Evidence
20068184mutationMyeloproliferative NeoplasmWe conclude that mutations in TET2, ASXL1, and IDH1 are common in sAML derived from a preexisting MPN.
21340513mutationMyelodysplastic SyndromeNewly elucidated molecular abnormalities in MDS include mutations in CBL, TET2, ASXL1, IDH1/IDH2, EZH2, DNMT3A, and UTX.
22170482mutationMyeloproliferative NeoplasmRecent advances in genomic technologies have led to the discovery of mutations in a number of epigenetic modifiers in patients with MPNs, including mutations in TET2, ASXL1, IDH1, IDH2, and EZH2.
22929312mutationAcute Myeloid LeukemiaWe developed a new combination of high-resolution melting assays on a LightCycler 480 and direct sequencing to detect somatic mutations of ASXL1 (exon 12), IDH1 (exon 4), IDH2 (exon 4), and c-CBL (exons 8 and 9) genes to know their incidence and prognostic effect in a cohort of 175 patients with de novo AML: 16 patients (9%) carried ASXL1 mutations, 16 patients had IDH variations (3% with IDH1(R132) and 6% with IDH2(R140)), and none had c-CBL mutations.
23484688mutationAcute Promyelocytic Leukemia with PML-RARANext, there were 12 cases WT1 mutation, 9 for FLT3-TKD, 7 for TET2, 5 for N-RAS, 4 for ASXL1, 2 for EZH2 mutation and 1 positive case in MLL-PTD, IDH1 and CBL mutation respectively.
23628959mutationAtypical Chronic Myeloid Leukemia, BCR-ABL1 NegativeSETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.
24319229mutationMyelodysplastic SyndromeRecently, mutations in several epigenetic modifiers have been described in patients with MPNs, including mutations in ASXL1, DNMT3A, EZH2, IDH1, IDH2, and TET2.
24442206mutationMyelodysplastic SyndromeRecently, mutations of the additional sex comb-like 1 (ASXL1) gene were identified in patients with myelodysplastic syndrome (MDS), but the interaction of this mutation with other genetic alterations and its dynamic changes during disease progression remain to be determined.
25022553mutationAcute Myeloid LeukemiaThe most frequent gene mutations from our data were FLT3-ITD/FLT3-TKD (28.4%), followed by mutations in IDH1/IDH2 (28.8%), RUNX1 (23.9%), N-RAS/K-RAS (12.3%), TET2 (8.2%), DNMT3A (8.1%), MLL-PTD (7.8%), and ASXL1 (6.3%).
25412851mutationAcute Myeloid LeukemiaWe assessed the frequency and clinicopathologic significance of 19 genes currently identified as significantly mutated in myeloid neoplasms, RUNX1, ASXL1, TET2, CEBPA, IDH1, IDH2, DNMT3A, FLT3, NPM1, TP53, NRAS, EZH2, CBL, U2AF1, SF3B1, SRSF2, JAK2, CSF3R, and SETBP1, across 93 cases of acute myeloid leukemia (AML) using capture target enrichment and next-generation sequencing.
27707735mutationChronic Myelomonocytic LeukemiaExome sequencing studies in Chronic Myelomonocytic Leukemia (CMML) illustrate a mutational landscape characterized by few somatic mutations involving a subset of recurrent gene mutations in ASXL1, SRSF2, and TET2, each approaching 40% in incidence.
27616637mutationMyelodysplastic SyndromeASXL1 is frequently mutated in myelodysplastic syndrome and other hematological malignancies.
27470916mutationChildhood Acute Myeloid LeukemiaFurthermore, targeted deep sequencing in 182 paediatric AML patients identified three major categories of recurrently mutated genes: cohesion complex genes [STAG2, RAD21 and SMC3 in 17 patients (8·3%)], epigenetic regulators [ASXL1/ASXL2 in 17 patients (8·3%), BCOR/BCORL1 in 7 patients (3·4%)] and signalling molecules.
27415155mutationMyelodysplastic SyndromeMoreover, we detected 2 novel genomic mutations in 2 known leukemogenic genes, IKZF1 and ASXL1.
27352931mutationMyeloid NeoplasmASXL1 mutations are found in a spectrum of myeloid malignancies with poor prognosis.
27185207mutationChronic Myelomonocytic LeukemiaMutations involving TET2 (60%), SRSF2 (50%), ASXL1 (40%), and RAS (30%) are frequent; with only ASXL1 mutations negatively impacting overall survival.
26848006mutationChronic Myelomonocytic LeukemiaGene mutations involving TET2 (60%), SRSF2 (50%), ASXL1 (40%), and RAS (30%) are frequent, with nonsense and frameshift ASXL1 mutations being the only mutations identified thus far to have an independent negative prognostic effect on overall survival.
26700326mutationMyeloid NeoplasmAmong the mutations, ASXL1 mutations attract much attention; the ASXL1 mutations are identified in a variety of hematologic malignancies and always predicts poor prognosis.
25575036mutationChronic Neutrophilic LeukemiaFurthermore, the majority of the patients with CSF3R-mutated CNL also expressed other mutations, such as SETBP1 and ASXL1, which might be prognostically detrimental.
26637707mutationMastocytosisThese lesions include, among others, somatic mutations in TET2, SRSF2, ASXL1, CBL, RUNX1, and RAS.
26464169mutationSystemic MastocytosisThe most frequently identified mutated genes were TET2 (n=33 of 70 patients), SRSF2 (n=30), ASXL1 (n=20), RUNX1 (n=16) and JAK2 (n=11).
26122388mutationChronic Myelomonocytic LeukemiaGene mutations in ten-eleven translocation (TET) oncogene family member 2 (TET2) (60%), SRSF2 (50%), ASXL1 (40%), and RAS (20-30%) are frequent, with only frame shift and nonsense ASXL1 mutations negatively impacting overall survival.
26118500mutationAcute Myeloid LeukemiaIn addition, mutations in epigenetic regulators such as DNMT3A, TET2, and ASXL1 have recently beenfound to be the earliest known events during AML evolution and to be present as preleukemic lesions before the onset of AML.
26095772mutationMyeloid LeukemiaHeterozygous mutations of ASXL1 that result in premature truncations are frequent in myeloid leukemias and Bohring-Opitz syndrome.
26082670mutationPh Negative Myeloproliferative NeoplasmA total of 29 ASXL1 mutations were detected in 24.7% of PMF and 8.4% of ET patients.
25921057mutationMyeloid NeoplasmSomatic mutations in ASXL1 are associated with myeloid malignancies, and these reports emphasize the need for Wilms tumor screening in patients with ASXL1 mutations.
25696868mutationMyeloproliferative NeoplasmOther mutations in several epigenetic modifiers, such as ASXL1, DNMT3a, TET2, EZH2, IDH1, and IDH2, as well as in genes involved in mRNA splicing, such as SF3B1 and U2AF2, have also been described in recent years in patients with MPNs, and evidence is emerging as to how these may be contributing to disease biology.
25482724mutationT Acute Lymphoblastic LeukemiaGenes in histone modification [BAP1 (n = 6; 13%), SETD2 (n = 5; 11%), ASXL1 (n = 2; 4%)], chromatin remodeling [SMARCA4 (n = 2; 4%)], and DNA methylation [DNMT3A (n = 3; 7%), TET2 (n = 2; 4%), WT1 (n = 2; 4%)] pathways were recurrently mutated in TCs, but not in thymomas.
25426838mutationHematopoietic and Lymphoid Cell NeoplasmDetectable clonal expansions most frequently involved somatic mutations in three genes (DNMT3A, ASXL1, and TET2) that have previously been implicated in hematologic cancers.
25326804mutationLeukemiaRemarkably, 83% of these mutations were from 19 leukemia and/or lymphoma-associated genes, and nine were recurrently mutated (DNMT3A, TET2, JAK2, ASXL1, TP53, GNAS, PPM1D, BCORL1 and SF3B1).
25306901mutationMyelodysplastic SyndromeMutations in ASXL1 are frequent in patients with myelodysplastic syndrome (MDS) and are associated with adverse survival, yet the molecular pathogenesis of ASXL1 mutations (ASXL1-MT) is not fully understood.
25000259mutationAcute Myeloid LeukemiaMutations in known tumor suppressors DNMT3A (p.G728D) and ASXL1 (p.E657fs), consistent with mutations of known consequence in acute myeloid leukemia, were identified.
24923295mutationAcute Myeloid LeukemiaRecurring mutations were detected in ASXL1 (44%) and BCOR (25%).
24859829mutationAcute Myeloid LeukemiaWe found that 16.1 % of patients had TET2 mutations, 31.6 % had FLT3 internal tandem duplications (ITDs), 6.2 % had FLT3 tyrosine kinase domain mutations, 2.4 % had c-KIT mutations, 37.8 % had NPM1 mutations, 11.3 % had WT1 mutations, 5.9 % had RUNX1 mutations, 11.5 % had ASXL1 mutations, 3.8 % had MLL-PTDs, 7.8 % had IDH1 mutations, 7.8 % had NRAS mutations, 12.3 % had IDH2 mutations, 1.6 % had EZH2 mutations, and 14.7 % had DNMT3A mutations, while none had CBL mutations.
24507815mutationChronic Myelomonocytic LeukemiaRecurrent gene mutations affect mainly the TET2, SRSF2, and ASXL1 genes.
24467717mutationChronic Myelomonocytic LeukemiaNumerous prognostic models exist for CMML, with more recent models incorporating prognostic mutations, such as those involving ASXL1.
25850813mutationChronic Neutrophilic LeukemiaFourteen patients with CSF3R-mutated CNL (median age 67 years; 57% males) were screened for additional mutations; 8 (57%) and 5 (38%) harbored an ASXL1 and/or SETBP1 mutation (two patients expressed both), respectively.
24220272mutationMyelodysplastic SyndromeForty-seven genes were significantly mutated with TET2, SF3B1, ASXL1, SRSF2, DNMT3A, and RUNX1 mutated in >10% of cases.
24218140mutationMyelodysplastic SyndromeSomatic Addition of Sex Combs Like 1 (ASXL1) mutations occur in 10-30% of patients with myeloid malignancies, most commonly in myelodysplastic syndromes (MDSs), and are associated with adverse outcome.
24202323mutationMyelodysplastic SyndromeGenes implicated in epigenetic control, like DNMT3A, ASXL1, EZH2 and TET2, have been discovered to be mutated in MDS.
24189654mutationAcute Myeloid LeukemiaIn the same samples, the assay also identified actionable point mutations in genes not previously analyzed and novel gene rearrangements of MLL and GRIK4 in melanoma, and of ASXL1, PIK3R1, and SGCZ in acute myeloid leukemia.
24164563mutationChronic Myelomonocytic LeukemiaIn 89% of cases, at least one mutation could be detected: ASXL1: n=18 (50%); CBL: n=7 (19%); TET2: n=15 (42%); and NRAS: n=11 (32%).
23952244mutationAcute Myeloid LeukemiaASXL1 mutations are recurrent in acute myeloid leukemia (AML), but it is unclear whether ASXL1 genotype might influence patient management.
23760684mutationAcute Myeloid LeukemiaThe development of novel technologies, such as massively parallel DNA sequencing, has led to the identification of several novel recurrent gene mutations, such as DNA methyltransferase (Dnmt)3a, ten-eleven-translocation oncogene family member 2 (TET2), isocitrate dehydrogenase (IDH)1/2, additional sex comb-like 1 (ASXL1), enhancer of zeste homolog 2 (EZH2) and ubiquitously transcribed tetratricopeptide repeat X chromosome (UTX) mutations in acute myeloid leukemia (AML) and other myeloid malignancies.
23736028mutationMyeloid Neoplasm; Chronic Lymphocytic Leukemia; Head and Neck Squamous Cell Carcinoma; Liver Carcinoma; Prostate Carcinoma; Breast CarcinomaTruncation mutations of ASXL1 occur in colorectal cancers with microsatellite instability (MSI), malignant myeloid diseases, rochronic lymphocytic leukaemia, head and neck squamous cell carcinoma, and liver, prostate and breast cancers; those of ASXL2 occur in prostate cancer, pancreatic cancer and breast cancer and those of ASXL3 are observed in melanoma.
23645565mutationAcute Myeloid Leukemia; Myelodysplastic SyndromeOver the past few years, large-scale genomic studies of patients with myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML) have unveiled recurrent somatic mutations in genes involved in epigenetic regulation (DNMT3A, IDH1/2, TET2, ASXL1, EZH2 and MLL) and the spliceosomal machinery (SF3B1, U2AF1, SRSF2, ZRSR2, SF3A1, PRPF40B, U2AF2, and SF1).
23640996mutation (loss of function)Acute Myeloid LeukemiaIn particular, we focus on the role of loss-of-function mutations in TET2, gain-of-function mutations in IDH1 and IDH2, and loss-of-function mutations in ASXL1 and mutations of unclear impact in DNMT3A in AML pathogenesis and therapy.
23521373mutationAcute Myeloid LeukemiaTET2 was found to be most frequently mutated (34·0%) gene, followed by GATA2 (21·0%), WT1 (13·7%), DNMT3A (9·6%), ASXL1 (9·5%), NRAS (8·4%), KRAS (3·2%), IDH1/2 (6·3%), FLT3-internal tandem duplication (6·3%), FLT3-tyrosine kinase domain (2·1%), NPM1 (2·1%), and RUNX1 (1/94).
23099237mutationMyelodysplastic SyndromeTET2 mutations were detected in 35 patients (23%), ASXL1 in 33 patients (22%) and EZH2 in 8 (5%).
23065512mutationChronic Myelomonocytic LeukemiaWe found that myelodysplastic chronic myelomonocytic leukemias are characterized by mutations in transcription/epigenetic regulators (ASXL1, RUNX1, TET2) and splicing genes (SRSF2) and the absence of mutations in signaling genes.
23049405mutationMyeloid NeoplasmIn addition to the JAK2 mutation, other mutations involving TET2 (ten-eleven translocation), LNK (a membrane-bound adaptor protein); IDH1/2 (isocitrate dehydrogenase 1/2 enzyme); ASXL1 (additional sex combs-like 1) genes were found in myeloproliferative neoplasms thus showing the importance of identifying molecular genetic alterations to confirm diagnosis, guide treatment and improve our understanding of the biology of these diseases.
23023734mutationMyeloproliferative NeoplasmSeveral additional novel mutations in genes involved in epigenetic regulation of the genome, including TET2, ASXL1, DNMT3A, and IDH1/2, have emerged, in addition to several mutations in cellular splicing machinery.
23018865mutationAcute Myeloid LeukemiaASXL1 exon 12 mutations are frequent in AML with intermediate risk karyotype and are independently associated with an adverse outcome.
23015417mutationMyeloid NeoplasmGenes such as ASXL1, DNMT3A, EZH2, IDH1/2, MLL1, and TET2 all have been shown to be mutated and/or translocated in patients with myeloid malignancies.
23009937copy number loss; mutationMyeloproliferative NeoplasmIn 2009, somatic copy number loss and mutations in the genes TET2 and ASXL1 were identified in MPN patients.
26019984mutationChronic Myelomonocytic LeukemiaForty-seven (32%) had a mutation in TET2, 42 (29%), a mutation in SRSF2, 65 (45%), a mutation (nonsense and frame-shift) in ASXL1 and 26 (18%), a mutation in SETBP1.
22912701mutationAcute Myeloid LeukemiaThe most frequently mutated genes in primary cases were NPM1 (60.8%) and FLT3 (50.0%), and in secondary cases ASXL1 (48.5%) and TET2 (30.3%).
22905207mutationMastocytosisMutations in TET2, DNMT3A, ASXL1 and CBL were found in 23%, 12%, 12%, and 4% of SM patients, respectively.
22773603mutationJuvenile Myelomonocytic LeukemiaBy comparison, our screening of juvenile myelomonocytic leukemia cases showed mutations in ASXL1 (4%), CBL (10%), and RAS (6%) but not in IDH1/2, TET2, EZH2, DNMT3A or the three spliceosomal genes.
22581002mutationAcute Myeloid LeukemiaAfter investigating common acute leukemia-related mutations in 17 genes, 12 of 31 (39%) patients were found to have at least one mutation, classified with: IKZF1 deletion (4 of 31), and EZH2 (3 of 31), ASXL1 (3 of 31), ETV6 (2 of 31), NOTCH1 (1 of 31), and TET2 (1 of 31) mutations.
22535592mutationAcute Myeloid Leukemia with Myelodysplasia-Related ChangesIn 48 MRC-AML patients analyzed, we found 17 mutations in ASXL1 (35%), eight in RUNX1 (17%), seven in TET2 (15%), 12 in IDH (n = 2) or IDH2 (n = 10) (25%), four in DNMT3A (8%), four in NPM1 (8%), and one in FLT3 (2%).
22489043mutationMyeloproliferative NeoplasmWe found a high incidence of ASXL1 mutation in MF patients (20%) and a low incidence in PV (7%) and ET (4%) patients.
22436456mutationMyeloid NeoplasmThe ASXL1 gene is one of the most frequently mutated genes in malignant myeloid diseases.
22058207mutationMyeloid NeoplasmSomatic mutations in the additional sex comb-like 1 (ASXL1) gene have been described in various types of myeloid malignancies, including acute myeloid leukemia.
21917154mutationAcute Myeloid LeukemiaThe aim of this review is to summarize the current findings for the identification of these gene mutations (Dnmt, TET2, IDH1/2, NPM1, ASXL1, etc.), most of which are frequently found in cytogenetically normal AML.
21904853mutationMyeloproliferative NeoplasmMutations in the TET2 and ASXL1 genes have been described in approximately 14% and 8% of patients, respectively, with classic myeloproliferative neoplasms (MPN), but their role as possible new diagnostic molecular markers is still inconclusive.
21576631mutationMyelodysplastic SyndromeMutations in ASXL1 occurred with a frequency of 20.7% in MDS (n = 40 of 193) with 70% (n = 28) of mutations being frameshift mutations and 30% (n = 12) being heterozygous point mutations leading to translational changes.
21346257mutationChronic Myelogenous Leukemia, BCR-ABL1 PositiveOur results indicate that CBL family, TET2, ASXL1, and IDH family mutations and additional cryptic karyotypic abnormalities can occur in advanced phase CML.
20880116mutationChronic Myelomonocytic LeukemiaMutations in ASXL1 and in the genes associated with proliferation (CBL, FLT3, PTPN11, NRAS) were mainly found in MP-CMML cases.
20410925mutationChronic Myelogenous Leukemia, BCR-ABL1 PositiveMutation of ASXL1 represents an important new molecular abnormality in CML.
19861679mutationChronic Myelomonocytic LeukemiaA recent study of patients with myelodysplastic syndrome (MDS) and chronic myelomonocytic leukemia (CMML) revealed a high incidence of truncation mutations that would delete the PHD domain of ASXL1.
19388938mutationMyelodysplastic SyndromeWe found mutations in the ASXL1 gene in four out of 35 MDS patients (11%).
26648538mutationChronic Myelomonocytic LeukemiaGenes mutated in 10% of patients were SRSF2, TET2, ASXL1, RUNX1, SETBP1, KRAS, EZH2, CBL and NRAS, as well as the novel CMML genes FAT4, ARIH1, DNAH2 and CSMD1.
26771811mutationChronic Myelomonocytic LeukemiaMutations involving epigenetic regulators (TET2~60% and ASXL1~40%) and splicing components (SRSF2~50%) are frequent in chronic myelomonocytic leukemia (CMML).
26883102mutationMyeloid NeoplasmEight of 28 patients (29%) showed concurrent mutations in ASXL1, SRSF2, SETBP1 and RAS.
27137476mutationAcute Myeloid LeukemiaRUNX1 mutations were found in 245 of 2439 (10%) patients; were almost mutually exclusive of AML with recurrent genetic abnormalities; and they co-occurred with a complex pattern of gene mutations, frequently involving mutations in epigenetic modifiers (ASXL1, IDH2, KMT2A, EZH2), components of the spliceosome complex (SRSF2, SF3B1) and STAG2, PHF6, BCOR.
27359055mutationAcute Myeloid LeukemiaWe selected 19 significantly-mutated genes in AMLs, including FLT3, DNMT3A, NPM1, TET2, RUNX1, CEBPA, WT1, IDH1, IDH2, NRAS, ASXL1, SETD2, PTPN11, TP53, KIT, JAK2, KRAS, BRAF and CBL, and performed massively parallel sequencing for 114 patients with acute myeloid leukemias, mainly including those with normal karyotypes (CN-AML).
27646892mutationPh Negative Myeloproliferative NeoplasmMutations were detected in 73.5% (36/49) of genes, and the mutational rates of JAK2-V617F, CALR (exon 9) and MPL were 60.8%(31/51), 7.8%(4/51) and 7.8%(4/51) respectively, whereas the mutational rates of ASXL1, SETBP1, and SF3B1 were around 10%.
27470916MutationAcute Myeloid LeukemiaFurthermore, targeted deep sequencing in 182 paediatric AML patients identified three major categories of recurrently mutated genes: cohesion complex genes [STAG2, RAD21 and SMC3 in 17 patients (8·3%)], epigenetic regulators [ASXL1/ASXL2 in 17 patients (8·3%), BCOR/BCORL1 in 7 patients (3·4%)] and signalling molecules.
27640403MutationChronic Myeloid LeukemiaMutations in the ASXL1 gene were found in five out of 66 CML patients (7.6%).
Summary
SymbolASXL1
Nameadditional sex combs like 1, transcriptional regulator
Aliases KIAA0978; additional sex combs like 1 (Drosophila); BOPS; additional sex combs like 1; Additional sex combs- ......
Location20q11.21
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Post-translational modification (PTM)
> Post-translational modification (PTM)
 
 Filter By:
Uniprot ID Position Amino Acid Description Upstream Enzyme Affected By Mutation Amino Acid Sequence Variant
Q8IXJ9503SPhosphoserine-NoNone detected
Summary
SymbolASXL1
Nameadditional sex combs like 1, transcriptional regulator
Aliases KIAA0978; additional sex combs like 1 (Drosophila); BOPS; additional sex combs like 1; Additional sex combs- ......
Location20q11.21
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Expression analysis in primary tumor tissue from TCGA
> Expression level in cancer cell line from CCLE
> Expression level in human normal tissue from HPA
> Text mining based expression change
> The Cancer Genome Atlas (TCGA)
 


  Differential expression analysis for cancers with more than 10 normal samples
Cancer Full Name # N # T Median (N) Median (T) LogFC Adj. P Status
BLCABladder urothelial carcinoma194086.0756.1570.1930.183NS
BRCABreast invasive carcinoma11211006.6456.333-0.2881.5e-12NS
CESCCervical and endocervical cancers33066.4146.159NANANA
COADColon adenocarcinoma414595.5476.320.7831.73e-15Over
ESCAEsophageal carcinoma111856.6246.6220.1320.533NS
GBMGlioblastoma multiforme51666.2046.254NANANA
HNSCHead and Neck squamous cell carcinoma445225.5565.8620.3714.05e-07NS
KIRCKidney renal clear cell carcinoma725346.2326.4330.2482.89e-07NS
KIRPKidney renal papillary cell carcinoma322916.1495.962-0.1190.223NS
LAMLAcute Myeloid Leukemia0173NA7.438NANANA
LGGBrain Lower Grade Glioma0530NA6.474NANANA
LIHCLiver hepatocellular carcinoma503734.9185.4970.6441.36e-15Over
LUADLung adenocarcinoma595176.3896.322-0.0320.65NS
LUSCLung squamous cell carcinoma515016.3446.155-0.150.0518NS
OVOvarian serous cystadenocarcinoma0307NA7.004NANANA
PAADPancreatic adenocarcinoma41796.4346.181NANANA
PCPGPheochromocytoma and Paraganglioma31846.2565.72NANANA
PRADProstate adenocarcinoma524985.775.9660.2120.000419NS
READRectum adenocarcinoma101675.6226.5641.0111.62e-07Over
SARCSarcoma22635.8096.472NANANA
SKCMSkin Cutaneous Melanoma14726.4066.767NANANA
STADStomach adenocarcinoma354155.9396.4560.5241.14e-07NS
TGCTTesticular Germ Cell Tumors0156NA5.89NANANA
THCAThyroid carcinoma595096.2426.078-0.1580.000311NS
THYMThymoma21207.1176.599NANANA
UCECUterine Corpus Endometrial Carcinoma355466.4896.222-0.1920.0512NS
> Cancer Cell Line Encyclopedia (CCLE)
 



Tissue Cell Line Expression Level (Microarray)
Autonomic ganglia CHP126 9
Autonomic ganglia CHP212 8.2
Autonomic ganglia IMR32 8.4
Autonomic ganglia KELLY 8.4
Autonomic ganglia KPNRTBM1 8.9
Autonomic ganglia KPNSI9S 8.4
Autonomic ganglia KPNYN 8.9
Autonomic ganglia MHHNB11 8.7
Autonomic ganglia NB1 8.5
Autonomic ganglia NH6 8.1
Autonomic ganglia SHSY5Y 8.9
Autonomic ganglia SIMA 9
Autonomic ganglia SKNAS 8.5
Autonomic ganglia SKNBE2 8.2
Autonomic ganglia SKNDZ 8.8
Autonomic ganglia SKNFI 8.3
Autonomic ganglia SKNSH 8.2
Biliary tract HUCCT1 8.6
Biliary tract HUH28 9.4
Biliary tract SNU1079 9.1
Biliary tract SNU1196 8.7
Biliary tract SNU245 7.9
Biliary tract SNU308 7.1
Biliary tract SNU478 8
Bone 143B 9.1
Bone A673 8.6
Bone CADOES1 8.5
Bone CAL78 8.4
Bone G292CLONEA141B1 8.2
Bone HOS 9.5
Bone HS706T 8.1
Bone HS737T 7.8
Bone HS819T 7.6
Bone HS821T 8.1
Bone HS822T 7.7
Bone HS863T 8
Bone HS870T 7.9
Bone HS888T 8.3
Bone MG63 8.5
Bone MHHES1 9
Bone OUMS27 8.7
Bone RDES 9.1
Bone SJSA1 8.5
Bone SKES1 8.3
Bone SKNMC 9
Bone SW1353 8.9
Bone T173 7.8
Bone TC71 8.2
Bone U2OS 9.5
Breast AU565 7.8
Breast BT20 8.3
Breast BT474 8
Breast BT483 8.2
Breast BT549 9.6
Breast CAL120 9.5
Breast CAL148 9
Breast CAL51 8.3
Breast CAL851 8.3
Breast CAMA1 7.7
Breast DU4475 8.1
Breast EFM192A 8.2
Breast EFM19 8.3
Breast EVSAT 7.1
Breast HCC1143 10.4
Breast HCC1187 9.5
Breast HCC1395 8.5
Breast HCC1419 7.7
Breast HCC1428 7.4
Breast HCC1500 7.7
Breast HCC1569 9.3
Breast HCC1599 8.6
Breast HCC1806 9.4
Breast HCC1937 8.6
Breast HCC1954 8.1
Breast HCC202 8.2
Breast HCC2157 8.5
Breast HCC2218 7.1
Breast HCC38 9.2
Breast HCC70 7.9
Breast HDQP1 9.3
Breast HMC18 8.1
Breast HS274T 8.1
Breast HS281T 8.2
Breast HS343T 8.1
Breast HS578T 8.7
Breast HS606T 7.8
Breast HS739T 7.9
Breast HS742T 7.5
Breast JIMT1 9.5
Breast KPL1 7.5
Breast MCF7 7.5
Breast MDAMB134VI 7.5
Breast MDAMB157 8.6
Breast MDAMB175VII 7.9
Breast MDAMB231 9.1
Breast MDAMB361 7.9
Breast MDAMB415 8
Breast MDAMB436 8.8
Breast MDAMB453 8.3
Breast MDAMB468 8.2
Breast SKBR3 7.8
Breast T47D 8.4
Breast UACC812 7.4
Breast UACC893 8.3
Breast YMB1 7.6
Breast ZR751 7.3
Breast ZR7530 7.9
Central nervous system 1321N1 8.9
Central nervous system 42MGBA 9.1
Central nervous system 8MGBA 8.5
Central nervous system A172 8.3
Central nervous system AM38 7.8
Central nervous system BECKER 8
Central nervous system CAS1 8.4
Central nervous system CCFSTTG1 8.3
Central nervous system D283MED 8.3
Central nervous system D341MED 8
Central nervous system DAOY 7.5
Central nervous system DBTRG05MG 8
Central nervous system DKMG 7.4
Central nervous system GAMG 8.6
Central nervous system GB1 9.1
Central nervous system GI1 8.3
Central nervous system GMS10 9.6
Central nervous system GOS3 8
Central nervous system H4 8
Central nervous system HS683 8.2
Central nervous system KALS1 8.3
Central nervous system KG1C 8.2
Central nervous system KNS42 8.4
Central nervous system KNS60 8.6
Central nervous system KNS81 8.5
Central nervous system KS1 9
Central nervous system LN18 9.2
Central nervous system LN229 8.8
Central nervous system M059K 8.8
Central nervous system MOGGCCM 8.6
Central nervous system MOGGUVW 8.9
Central nervous system NMCG1 8.2
Central nervous system ONS76 8.6
Central nervous system SF126 8.3
Central nervous system SF295 8
Central nervous system SNB19 8.6
Central nervous system SNU1105 8.2
Central nervous system SNU201 8.4
Central nervous system SNU466 8.2
Central nervous system SNU489 8.6
Central nervous system SNU626 8.4
Central nervous system SNU738 9.8
Central nervous system SW1088 8.8
Central nervous system SW1783 8.2
Central nervous system T98G 9.1
Central nervous system TM31 8
Central nervous system U118MG 8.6
Central nervous system U138MG 9.2
Central nervous system U251MG 7.7
Central nervous system U87MG 8.7
Central nervous system YH13 7.7
Central nervous system YKG1 8
Endometrium AN3CA 7.9
Endometrium COLO684 8.8
Endometrium EFE184 8.8
Endometrium EN 8.2
Endometrium ESS1 8.3
Endometrium HEC108 8.4
Endometrium HEC151 7.7
Endometrium HEC1A 8.2
Endometrium HEC1B 8.9
Endometrium HEC251 7.9
Endometrium HEC265 8.7
Endometrium HEC50B 8.6
Endometrium HEC59 7
Endometrium HEC6 8.9
Endometrium ISHIKAWAHERAKLIO02ER 8
Endometrium JHUEM1 7.9
Endometrium JHUEM2 8.1
Endometrium JHUEM3 8.4
Endometrium KLE 8.2
Endometrium MFE280 9.2
Endometrium MFE296 8.1
Endometrium MFE319 7.8
Endometrium RL952 8.3
Endometrium SNGM 7.8
Endometrium SNU1077 8.9
Endometrium SNU685 9.6
Endometrium TEN 9.1
Haematopoietic and lymphoid 697 9
Haematopoietic and lymphoid A3KAW 8.5
Haematopoietic and lymphoid A4FUK 8.2
Haematopoietic and lymphoid ALLSIL 9.1
Haematopoietic and lymphoid AML193 8.5
Haematopoietic and lymphoid AMO1 8.6
Haematopoietic and lymphoid BCP1 9
Haematopoietic and lymphoid BDCM 8
Haematopoietic and lymphoid BL41 8.7
Haematopoietic and lymphoid BL70 8.8
Haematopoietic and lymphoid BV173 8.9
Haematopoietic and lymphoid CA46 8.7
Haematopoietic and lymphoid CI1 8.4
Haematopoietic and lymphoid CMK115 8.7
Haematopoietic and lymphoid CMK86 8.5
Haematopoietic and lymphoid CMK 8.5
Haematopoietic and lymphoid CMLT1 9
Haematopoietic and lymphoid COLO775 8.6
Haematopoietic and lymphoid DAUDI 9.1
Haematopoietic and lymphoid DB 9.1
Haematopoietic and lymphoid DEL 9.3
Haematopoietic and lymphoid DND41 9.4
Haematopoietic and lymphoid DOHH2 8.9
Haematopoietic and lymphoid EB1 8.4
Haematopoietic and lymphoid EB2 8.4
Haematopoietic and lymphoid EHEB 8.8
Haematopoietic and lymphoid EJM 8.7
Haematopoietic and lymphoid EM2 8.9
Haematopoietic and lymphoid EOL1 8.8
Haematopoietic and lymphoid F36P 8.5
Haematopoietic and lymphoid GA10 8.4
Haematopoietic and lymphoid GDM1 8.7
Haematopoietic and lymphoid GRANTA519 7.9
Haematopoietic and lymphoid HDLM2 8.2
Haematopoietic and lymphoid HDMYZ 8.2
Haematopoietic and lymphoid HEL9217 9.2
Haematopoietic and lymphoid HEL 9
Haematopoietic and lymphoid HH 9.8
Haematopoietic and lymphoid HL60 9
Haematopoietic and lymphoid HPBALL 9.3
Haematopoietic and lymphoid HS604T 7.9
Haematopoietic and lymphoid HS611T 8.4
Haematopoietic and lymphoid HS616T 8
Haematopoietic and lymphoid HS751T 7.8
Haematopoietic and lymphoid HT 8.6
Haematopoietic and lymphoid HTK 9
Haematopoietic and lymphoid HUNS1 8.4
Haematopoietic and lymphoid HUT102 9.9
Haematopoietic and lymphoid HUT78 8.1
Haematopoietic and lymphoid JEKO1 9
Haematopoietic and lymphoid JK1 8.1
Haematopoietic and lymphoid JM1 9.4
Haematopoietic and lymphoid JURKAT 9
Haematopoietic and lymphoid JURLMK1 9.4
Haematopoietic and lymphoid JVM2 8.7
Haematopoietic and lymphoid JVM3 8.4
Haematopoietic and lymphoid K562 8.3
Haematopoietic and lymphoid KARPAS299 8.9
Haematopoietic and lymphoid KARPAS422 8.5
Haematopoietic and lymphoid KARPAS620 8.2
Haematopoietic and lymphoid KASUMI1 8
Haematopoietic and lymphoid KASUMI2 9.2
Haematopoietic and lymphoid KASUMI6 8.4
Haematopoietic and lymphoid KCL22 8.1
Haematopoietic and lymphoid KE37 8.9
Haematopoietic and lymphoid KE97 8.1
Haematopoietic and lymphoid KG1 8.4
Haematopoietic and lymphoid KHM1B 8
Haematopoietic and lymphoid KIJK 9.1
Haematopoietic and lymphoid KMH2 8.1
Haematopoietic and lymphoid KMM1 8.8
Haematopoietic and lymphoid KMS11 8.7
Haematopoietic and lymphoid KMS12BM 8.6
Haematopoietic and lymphoid KMS18 8.5
Haematopoietic and lymphoid KMS20 8.5
Haematopoietic and lymphoid KMS21BM 8.6
Haematopoietic and lymphoid KMS26 8.6
Haematopoietic and lymphoid KMS27 8
Haematopoietic and lymphoid KMS28BM 8.6
Haematopoietic and lymphoid KMS34 8.2
Haematopoietic and lymphoid KO52 8.2
Haematopoietic and lymphoid KOPN8 9
Haematopoietic and lymphoid KU812 8.1
Haematopoietic and lymphoid KYO1 8.7
Haematopoietic and lymphoid L1236 8.8
Haematopoietic and lymphoid L363 7.8
Haematopoietic and lymphoid L428 8.7
Haematopoietic and lymphoid L540 9.8
Haematopoietic and lymphoid LAMA84 8.8
Haematopoietic and lymphoid LOUCY 8.6
Haematopoietic and lymphoid LP1 8.4
Haematopoietic and lymphoid M07E 8.6
Haematopoietic and lymphoid MC116 8.6
Haematopoietic and lymphoid ME1 9.3
Haematopoietic and lymphoid MEC1 8.5
Haematopoietic and lymphoid MEC2 8.9
Haematopoietic and lymphoid MEG01 8.4
Haematopoietic and lymphoid MHHCALL2 8.5
Haematopoietic and lymphoid MHHCALL3 9.5
Haematopoietic and lymphoid MHHCALL4 8.9
Haematopoietic and lymphoid MINO 8.5
Haematopoietic and lymphoid MJ 9.8
Haematopoietic and lymphoid MM1S 8.5
Haematopoietic and lymphoid MOLM13 8.2
Haematopoietic and lymphoid MOLM16 8.8
Haematopoietic and lymphoid MOLM6 8.3
Haematopoietic and lymphoid MOLP2 8.8
Haematopoietic and lymphoid MOLP8 8.3
Haematopoietic and lymphoid MOLT13 9
Haematopoietic and lymphoid MOLT16 8.3
Haematopoietic and lymphoid MOLT4 9
Haematopoietic and lymphoid MONOMAC1 8.4
Haematopoietic and lymphoid MONOMAC6 8.5
Haematopoietic and lymphoid MOTN1 10.1
Haematopoietic and lymphoid MUTZ5 8.7
Haematopoietic and lymphoid MV411 8.4
Haematopoietic and lymphoid NALM19 9.1
Haematopoietic and lymphoid NALM1 8.9
Haematopoietic and lymphoid NALM6 9.2
Haematopoietic and lymphoid NAMALWA 9
Haematopoietic and lymphoid NB4 8.7
Haematopoietic and lymphoid NCIH929 8.5
Haematopoietic and lymphoid NCO2 8.1
Haematopoietic and lymphoid NOMO1 7.8
Haematopoietic and lymphoid NUDHL1 8.8
Haematopoietic and lymphoid NUDUL1 9.6
Haematopoietic and lymphoid OCIAML2 8.7
Haematopoietic and lymphoid OCIAML3 9.1
Haematopoietic and lymphoid OCIAML5 8.2
Haematopoietic and lymphoid OCILY10 8.6
Haematopoietic and lymphoid OCILY19 9.1
Haematopoietic and lymphoid OCILY3 9.1
Haematopoietic and lymphoid OCIM1 8.2
Haematopoietic and lymphoid OPM2 7.7
Haematopoietic and lymphoid P12ICHIKAWA 9.3
Haematopoietic and lymphoid P31FUJ 7.9
Haematopoietic and lymphoid P3HR1 8.8
Haematopoietic and lymphoid PCM6 8.5
Haematopoietic and lymphoid PEER 8.4
Haematopoietic and lymphoid PF382 9.5
Haematopoietic and lymphoid PFEIFFER 8.8
Haematopoietic and lymphoid PL21 8.8
Haematopoietic and lymphoid RAJI 8.9
Haematopoietic and lymphoid RCHACV 8.6
Haematopoietic and lymphoid REC1 8.2
Haematopoietic and lymphoid REH 8.7
Haematopoietic and lymphoid RI1 8.7
Haematopoietic and lymphoid RL 8.7
Haematopoietic and lymphoid RPMI8226 8.1
Haematopoietic and lymphoid RPMI8402 9.4
Haematopoietic and lymphoid RS411 8.9
Haematopoietic and lymphoid SEM 8.9
Haematopoietic and lymphoid SET2 8.4
Haematopoietic and lymphoid SIGM5 8.6
Haematopoietic and lymphoid SKM1 8.4
Haematopoietic and lymphoid SKMM2 8.4
Haematopoietic and lymphoid SR786 9.4
Haematopoietic and lymphoid ST486 9.5
Haematopoietic and lymphoid SUDHL10 9.1
Haematopoietic and lymphoid SUDHL1 9.4
Haematopoietic and lymphoid SUDHL4 9.2
Haematopoietic and lymphoid SUDHL5 9.1
Haematopoietic and lymphoid SUDHL6 8.5
Haematopoietic and lymphoid SUDHL8 10
Haematopoietic and lymphoid SUPB15 8.7
Haematopoietic and lymphoid SUPHD1 9.3
Haematopoietic and lymphoid SUPM2 8.2
Haematopoietic and lymphoid SUPT11 9.2
Haematopoietic and lymphoid SUPT1 8.8
Haematopoietic and lymphoid TALL1 9.7
Haematopoietic and lymphoid TF1 8.1
Haematopoietic and lymphoid THP1 8
Haematopoietic and lymphoid TO175T 8.2
Haematopoietic and lymphoid TOLEDO 10.8
Haematopoietic and lymphoid U266B1 8.5
Haematopoietic and lymphoid U937 8.6
Haematopoietic and lymphoid UT7 9.2
Haematopoietic and lymphoid WSUDLCL2 9.2
Kidney 769P 8.4
Kidney 786O 8.5
Kidney A498 8.5
Kidney A704 8
Kidney ACHN 8.3
Kidney BFTC909 9.1
Kidney CAKI1 8.6
Kidney CAKI2 8.3
Kidney CAL54 8.5
Kidney KMRC1 8.2
Kidney KMRC20 8.1
Kidney KMRC2 8
Kidney KMRC3 7.9
Kidney OSRC2 8.7
Kidney RCC10RGB 8.7
Kidney SNU1272 8.3
Kidney SNU349 7.8
Kidney TUHR10TKB 8.8
Kidney TUHR14TKB 8.7
Kidney TUHR4TKB 8.7
Kidney VMRCRCW 8.3
Kidney VMRCRCZ 8.5
Large intestine C2BBE1 9.5
Large intestine CCK81 7.4
Large intestine CL11 8.3
Large intestine CL14 9.2
Large intestine CL34 7.5
Large intestine CL40 7.5
Large intestine COLO205 8.4
Large intestine COLO320 8.9
Large intestine COLO678 9.1
Large intestine CW2 7.6
Large intestine DLD1 8
Large intestine GP2D 7.8
Large intestine HCC56 7.6
Large intestine HCT116 8
Large intestine HCT15 8.2
Large intestine HS675T 7.9
Large intestine HS698T 8.5
Large intestine HT115 7.8
Large intestine HT29 8.9
Large intestine HT55 8.7
Large intestine KM12 8.2
Large intestine LOVO 7.9
Large intestine LS1034 8.3
Large intestine LS123 8.6
Large intestine LS180 7.6
Large intestine LS411N 7.6
Large intestine LS513 6.8
Large intestine MDST8 8.9
Large intestine NCIH508 8.7
Large intestine NCIH716 8.1
Large intestine NCIH747 9
Large intestine OUMS23 8.4
Large intestine RCM1 8.6
Large intestine RKO 8.8
Large intestine SKCO1 8.1
Large intestine SNU1040 8.1
Large intestine SNU1197 8.6
Large intestine SNU175 7.4
Large intestine SNU283 8.4
Large intestine SNU407 8
Large intestine SNU503 8.1
Large intestine SNU61 7.8
Large intestine SNU81 7.2
Large intestine SNUC1 8
Large intestine SNUC2A 8.1
Large intestine SNUC4 8
Large intestine SNUC5 9
Large intestine SW1116 8.5
Large intestine SW1417 9.1
Large intestine SW1463 8.5
Large intestine SW403 8.1
Large intestine SW480 8.3
Large intestine SW48 8.4
Large intestine SW620 8.8
Large intestine SW837 8.3
Large intestine SW948 8.3
Large intestine T84 8.4
Liver ALEXANDERCELLS 8.2
Liver C3A 9
Liver HEP3B217 9.3
Liver HEPG2 9.2
Liver HLE 8.9
Liver HLF 9.5
Liver HUH1 8.6
Liver HUH6 8.9
Liver HUH7 8.7
Liver JHH1 8.9
Liver JHH2 8.1
Liver JHH4 8.6
Liver JHH5 8.8
Liver JHH6 8.4
Liver JHH7 9
Liver LI7 8.6
Liver PLCPRF5 8.6
Liver SKHEP1 8.5
Liver SNU182 8.3
Liver SNU387 9
Liver SNU398 9
Liver SNU423 9.3
Liver SNU449 9.1
Liver SNU475 9.3
Liver SNU761 9.1
Liver SNU878 7.5
Liver SNU886 8.7
Lung A549 7.9
Lung ABC1 8
Lung BEN 8.4
Lung CAL12T 8.6
Lung CALU1 9.1
Lung CALU3 8.5
Lung CALU6 9.1
Lung CHAGOK1 7.7
Lung COLO668 8.5
Lung COLO699 8.8
Lung CORL105 8.3
Lung CORL23 8.9
Lung CORL24 8.9
Lung CORL279 8.6
Lung CORL311 8.9
Lung CORL47 7.7
Lung CORL51 8
Lung CORL88 8.4
Lung CORL95 8.8
Lung CPCN 8.7
Lung DMS114 8
Lung DMS153 8.2
Lung DMS273 8.1
Lung DMS454 7.3
Lung DMS53 8.4
Lung DMS79 8.2
Lung DV90 7.4
Lung EBC1 8.4
Lung EPLC272H 8.3
Lung HARA 7.7
Lung HCC1171 8.8
Lung HCC1195 8.8
Lung HCC15 8.2
Lung HCC2279 8.6
Lung HCC2935 8
Lung HCC33 8.2
Lung HCC366 8.3
Lung HCC4006 6.9
Lung HCC44 8.1
Lung HCC78 8.1
Lung HCC827 9.1
Lung HCC95 8.2
Lung HLC1 8.5
Lung HLFA 8
Lung HS229T 8.1
Lung HS618T 7.9
Lung IALM 9.1
Lung KNS62 8.1
Lung LC1F 8.3
Lung LC1SQSF 7.8
Lung LCLC103H 9.2
Lung LCLC97TM1 8
Lung LK2 8.2
Lung LOUNH91 9.2
Lung LU65 7.8
Lung LU99 9.2
Lung LUDLU1 8.3
Lung LXF289 8.3
Lung MORCPR 8.7
Lung NCIH1048 8.3
Lung NCIH1092 7.7
Lung NCIH1105 8.1
Lung NCIH1155 8.3
Lung NCIH1184 7.8
Lung NCIH1299 8.9
Lung NCIH1339 8.5
Lung NCIH1341 8.4
Lung NCIH1355 8.1
Lung NCIH1373 8.1
Lung NCIH1385 8.1
Lung NCIH1395 7.5
Lung NCIH1435 8
Lung NCIH1436 7.8
Lung NCIH1437 8.3
Lung NCIH146 9
Lung NCIH1563 8.1
Lung NCIH1568 8.4
Lung NCIH1573 8.1
Lung NCIH1581 8.6
Lung NCIH1618 8.7
Lung NCIH1623 8.5
Lung NCIH1648 8.5
Lung NCIH1650 9.1
Lung NCIH1651 8.9
Lung NCIH1666 8.4
Lung NCIH1693 8.4
Lung NCIH1694 7.9
Lung NCIH1703 8.8
Lung NCIH1734 8.4
Lung NCIH1755 8.3
Lung NCIH1781 8.3
Lung NCIH1792 8.1
Lung NCIH1793 9.5
Lung NCIH1836 8
Lung NCIH1838 8.9
Lung NCIH1869 7.6
Lung NCIH1876 8.2
Lung NCIH1915 8.6
Lung NCIH1930 8.7
Lung NCIH1944 7.7
Lung NCIH1963 8.1
Lung NCIH196 8.5
Lung NCIH1975 8.4
Lung NCIH2009 8.2
Lung NCIH2023 8.2
Lung NCIH2029 8.8
Lung NCIH2030 9.1
Lung NCIH2066 8.9
Lung NCIH2081 8
Lung NCIH2085 9.2
Lung NCIH2087 8.4
Lung NCIH209 8
Lung NCIH2106 8.7
Lung NCIH2110 7.1
Lung NCIH211 8.2
Lung NCIH2122 7.7
Lung NCIH2126 8.4
Lung NCIH2141 8.3
Lung NCIH2170 8.4
Lung NCIH2171 8.5
Lung NCIH2172 8.7
Lung NCIH2196 8
Lung NCIH2227 8.5
Lung NCIH2228 8.1
Lung NCIH226 8.7
Lung NCIH2286 8.6
Lung NCIH2291 7.6
Lung NCIH2342 8.4
Lung NCIH2347 8.2
Lung NCIH23 8.9
Lung NCIH2405 8.6
Lung NCIH2444 8.7
Lung NCIH292 8.3
Lung NCIH322 8.2
Lung NCIH3255 7.7
Lung NCIH358 8
Lung NCIH441 9.1
Lung NCIH446 8.7
Lung NCIH460 7.7
Lung NCIH510 8
Lung NCIH520 9.1
Lung NCIH522 8.2
Lung NCIH524 8.5
Lung NCIH526 8.5
Lung NCIH596 8.8
Lung NCIH647 8.8
Lung NCIH650 9.1
Lung NCIH661 8.9
Lung NCIH69 8.1
Lung NCIH727 8.8
Lung NCIH810 8.1
Lung NCIH82 8.4
Lung NCIH838 9.1
Lung NCIH841 8.7
Lung NCIH854 9.2
Lung NCIH889 7.1
Lung PC14 8.2
Lung RERFLCAD1 8.3
Lung RERFLCAD2 8.1
Lung RERFLCAI 7.6
Lung RERFLCKJ 7.4
Lung RERFLCMS 7.9
Lung RERFLCSQ1 8.6
Lung SBC5 8
Lung SCLC21H 8.2
Lung SHP77 8.1
Lung SKLU1 8.8
Lung SKMES1 7.6
Lung SQ1 8.2
Lung SW1271 9.6
Lung SW1573 9.7
Lung SW900 8.3
Lung VMRCLCD 8.1
Lung VMRCLCP 8.6
Oesophagus COLO680N 8.8
Oesophagus ECGI10 8.2
Oesophagus KYSE140 8.2
Oesophagus KYSE150 8.9
Oesophagus KYSE180 8.3
Oesophagus KYSE270 8.7
Oesophagus KYSE30 8.6
Oesophagus KYSE410 7.9
Oesophagus KYSE450 7.8
Oesophagus KYSE510 8.3
Oesophagus KYSE520 8.9
Oesophagus KYSE70 7.5
Oesophagus OE19 7.9
Oesophagus OE33 8.3
Oesophagus TE10 8.3
Oesophagus TE11 8.1
Oesophagus TE14 8
Oesophagus TE15 8.3
Oesophagus TE1 8.7
Oesophagus TE4 8.8
Oesophagus TE5 8
Oesophagus TE6 9.1
Oesophagus TE8 9.1
Oesophagus TE9 7.9
Oesophagus TT 7.8
Ovary 59M 8.5
Ovary A2780 8.3
Ovary CAOV3 8.1
Ovary CAOV4 8.8
Ovary COLO704 8.6
Ovary COV318 9.2
Ovary COV362 7.8
Ovary COV434 8.2
Ovary COV504 8.4
Ovary COV644 7.3
Ovary EFO21 8.4
Ovary EFO27 8.9
Ovary ES2 8
Ovary FUOV1 9.5
Ovary HEYA8 8.3
Ovary HS571T 8
Ovary IGROV1 8.5
Ovary JHOC5 8.9
Ovary JHOM1 8.7
Ovary JHOM2B 8.6
Ovary JHOS2 7.6
Ovary JHOS4 8.5
Ovary KURAMOCHI 9.3
Ovary MCAS 7.7
Ovary NIHOVCAR3 8.6
Ovary OAW28 10.1
Ovary OAW42 7.8
Ovary OC314 8.4
Ovary OC316 8.4
Ovary ONCODG1 8.7
Ovary OV56 8.2
Ovary OV7 8.7
Ovary OV90 8.6
Ovary OVCAR4 8.3
Ovary OVCAR8 8.9
Ovary OVISE 7.7
Ovary OVK18 8.3
Ovary OVKATE 7.8
Ovary OVMANA 7.9
Ovary OVSAHO 8.6
Ovary OVTOKO 8.4
Ovary RMGI 7.5
Ovary RMUGS 8
Ovary SKOV3 8.1
Ovary SNU119 8.1
Ovary SNU840 8.1
Ovary SNU8 8.3
Ovary TOV112D 8.7
Ovary TOV21G 8.3
Ovary TYKNU 8.2
Pancreas ASPC1 8.5
Pancreas BXPC3 8.1
Pancreas CAPAN1 8.2
Pancreas CAPAN2 8.5
Pancreas CFPAC1 8.3
Pancreas DANG 8.1
Pancreas HPAC 8.9
Pancreas HPAFII 8.1
Pancreas HS766T 9.4
Pancreas HUPT3 8.2
Pancreas HUPT4 8
Pancreas KCIMOH1 8.2
Pancreas KLM1 9.1
Pancreas KP2 8.4
Pancreas KP3 8
Pancreas KP4 8.4
Pancreas L33 8.3
Pancreas MIAPACA2 8.6
Pancreas PANC0203 8.4
Pancreas PANC0213 8.1
Pancreas PANC0327 8.1
Pancreas PANC0403 8.5
Pancreas PANC0504 8
Pancreas PANC0813 8
Pancreas PANC1005 8.2
Pancreas PANC1 9.5
Pancreas PATU8902 8.4
Pancreas PATU8988S 8.7
Pancreas PATU8988T 9.3
Pancreas PK1 8.6
Pancreas PK45H 8.8
Pancreas PK59 8
Pancreas PL45 8.4
Pancreas PSN1 8.6
Pancreas QGP1 7.8
Pancreas SNU213 8.6
Pancreas SNU324 8.3
Pancreas SNU410 8.7
Pancreas SU8686 8.6
Pancreas SUIT2 8.6
Pancreas SW1990 8.3
Pancreas T3M4 7.9
Pancreas TCCPAN2 7.9
Pancreas YAPC 8.3
Pleura ACCMESO1 9.5
Pleura DM3 7.8
Pleura ISTMES1 9
Pleura ISTMES2 8.5
Pleura JL1 9
Pleura MPP89 9.4
Pleura MSTO211H 8.6
Pleura NCIH2052 9.2
Pleura NCIH2452 8.7
Pleura NCIH28 8.1
Prostate 22RV1 7.5
Prostate DU145 8.2
Prostate LNCAPCLONEFGC 7.7
Prostate MDAPCA2B 7.7
Prostate NCIH660 8.4
Prostate PC3 8.6
Prostate VCAP 8.5
Salivary gland A253 7.9
Salivary gland YD15 8.7
Skin A101D 8.5
Skin A2058 8.2
Skin A375 8.3
Skin C32 7.8
Skin CHL1 8.5
Skin CJM 8.5
Skin COLO679 8.2
Skin COLO741 8.5
Skin COLO783 9.2
Skin COLO792 8.1
Skin COLO800 8.6
Skin COLO818 8.3
Skin COLO829 7.9
Skin COLO849 8.6
Skin G361 8.1
Skin GRM 9.4
Skin HMCB 8.7
Skin HS294T 9.1
Skin HS600T 7.8
Skin HS688AT 7.7
Skin HS695T 8.4
Skin HS839T 7.8
Skin HS852T 7.9
Skin HS895T 7.5
Skin HS934T 8.4
Skin HS936T 8.3
Skin HS939T 7.7
Skin HS940T 8.3
Skin HS944T 8.3
Skin HT144 8.6
Skin IGR1 8.1
Skin IGR37 8.3
Skin IGR39 9.3
Skin IPC298 7.9
Skin K029AX 7.8
Skin LOXIMVI 8.8
Skin MALME3M 7.7
Skin MDAMB435S 8.8
Skin MELHO 8.1
Skin MELJUSO 8.3
Skin MEWO 8
Skin RPMI7951 8.8
Skin RVH421 8.7
Skin SH4 8.4
Skin SKMEL1 9.1
Skin SKMEL24 8
Skin SKMEL28 8.1
Skin SKMEL2 8.5
Skin SKMEL30 8.6
Skin SKMEL31 7.8
Skin SKMEL3 8.9
Skin SKMEL5 8.1
Skin UACC257 8.5
Skin UACC62 7.8
Skin WM115 7.7
Skin WM1799 8.4
Skin WM2664 7.9
Skin WM793 9
Skin WM88 8.4
Skin WM983B 8.5
Small intestine HUTU80 8.5
Soft tissue A204 8.1
Soft tissue G401 8.2
Soft tissue G402 8.2
Soft tissue GCT 9.1
Soft tissue HS729 9.1
Soft tissue HT1080 8.4
Soft tissue KYM1 8.1
Soft tissue MESSA 8.3
Soft tissue RD 8.6
Soft tissue RH30 9.2
Soft tissue RH41 9.1
Soft tissue RKN 8.9
Soft tissue S117 9.1
Soft tissue SJRH30 8.8
Soft tissue SKLMS1 8.8
Soft tissue SKUT1 8.4
Soft tissue TE125T 7.9
Soft tissue TE159T 8.2
Soft tissue TE441T 9
Soft tissue TE617T 8.6
Stomach 2313287 8.1
Stomach AGS 8.7
Stomach AZ521 8.5
Stomach ECC10 9.5
Stomach ECC12 8.4
Stomach FU97 8.7
Stomach GCIY 8.1
Stomach GSS 9.1
Stomach GSU 7.4
Stomach HGC27 7.8
Stomach HS746T 8.6
Stomach HUG1N 8.1
Stomach IM95 7.3
Stomach KATOIII 8.2
Stomach KE39 9.6
Stomach LMSU 9.1
Stomach MKN1 8.9
Stomach MKN45 8.6
Stomach MKN74 8.9
Stomach MKN7 8.9
Stomach NCCSTCK140 8.5
Stomach NCIN87 8
Stomach NUGC2 8.1
Stomach NUGC3 8.5
Stomach NUGC4 7.4
Stomach OCUM1 7.2
Stomach RERFGC1B 9.7
Stomach SH10TC 8.3
Stomach SNU16 7.7
Stomach SNU1 8.7
Stomach SNU216 9.6
Stomach SNU520 7.7
Stomach SNU5 7.7
Stomach SNU601 8.5
Stomach SNU620 7.9
Stomach SNU668 9
Stomach SNU719 8.4
Stomach TGBC11TKB 7.8
Thyroid 8305C 8.8
Thyroid 8505C 9
Thyroid BCPAP 10
Thyroid BHT101 8.7
Thyroid CAL62 9.5
Thyroid CGTHW1 8.4
Thyroid FTC133 8.3
Thyroid FTC238 8.3
Thyroid ML1 8.6
Thyroid SW579 8.5
Thyroid TT2609C02 8.2
Thyroid TT 8.2
Upper aerodigestive tract BHY 10.1
Upper aerodigestive tract BICR16 7.7
Upper aerodigestive tract BICR18 8.2
Upper aerodigestive tract BICR22 7.2
Upper aerodigestive tract BICR31 8.2
Upper aerodigestive tract BICR56 7.8
Upper aerodigestive tract BICR6 8
Upper aerodigestive tract CAL27 7.8
Upper aerodigestive tract CAL33 8.4
Upper aerodigestive tract DETROIT562 8.3
Upper aerodigestive tract FADU 8.6
Upper aerodigestive tract HS840T 8.1
Upper aerodigestive tract HSC2 8.4
Upper aerodigestive tract HSC3 8
Upper aerodigestive tract HSC4 8.8
Upper aerodigestive tract PECAPJ15 8.4
Upper aerodigestive tract PECAPJ34CLONEC12 7.4
Upper aerodigestive tract PECAPJ41CLONED2 7.8
Upper aerodigestive tract PECAPJ49 8.6
Upper aerodigestive tract SCC15 8.3
Upper aerodigestive tract SCC25 7.9
Upper aerodigestive tract SCC4 8.3
Upper aerodigestive tract SCC9 8.7
Upper aerodigestive tract SNU1076 8.1
Upper aerodigestive tract SNU1214 7.7
Upper aerodigestive tract SNU46 9.3
Upper aerodigestive tract SNU899 8.8
Upper aerodigestive tract YD10B 8.8
Upper aerodigestive tract YD38 8.8
Upper aerodigestive tract YD8 9.1
Urinary tract 5637 8.6
Urinary tract 639V 9.4
Urinary tract 647V 9.2
Urinary tract BC3C 8.4
Urinary tract BFTC905 8.2
Urinary tract CAL29 8.9
Urinary tract HS172T 8.1
Urinary tract HT1197 7.9
Urinary tract HT1376 8.3
Urinary tract J82 10
Urinary tract JMSU1 9.5
Urinary tract KMBC2 9.7
Urinary tract KU1919 8.8
Urinary tract RT11284 8.1
Urinary tract RT112 8.3
Urinary tract RT4 7.8
Urinary tract SCABER 7.9
Urinary tract SW1710 9
Urinary tract SW780 8.8
Urinary tract T24 9.4
Urinary tract TCCSUP 8.3
Urinary tract UMUC1 8.8
Urinary tract UMUC3 8.5
Urinary tract VMCUB1 8.4
> The Human Protein Atlas (HPA)
 


Tissue Expression Level (TPM)
Adipose tissue 23.9
Adrenal gland 22.5
Appendix 35
Bone marrow 37.1
Breast 20.7
Cerebral cortex 24.6
Cervix, uterine 20.3
Colon 16
Duodenum 18.4
Endometrium 34.1
Epididymis 30.2
Esophagus 12.3
Fallopian tube 28.8
Gallbladder 27.3
Heart muscle 8.8
Kidney 17.6
Liver 10
Lung 33.3
Lymph node 38.7
Ovary 28.5
Pancreas 4.8
Parathyroid gland 33.3
Placenta 30.9
Prostate 22.5
Rectum 18.6
Salivary gland 5.7
Seminal vesicle 20.7
Skeletal muscle 8.2
Skin 19.6
Small intestine 21.9
Smooth muscle 32.2
Spleen 35.1
Stomach 17.4
Testis 68.2
Thyroid gland 28
Tonsil 29.3
Urinary bladder 17.6
> Text Mining based Expression
 
PMID Expression Cancer Evidence
23958953altered expressionMastocytosisMost frequently affected genes were TET2, SRSF2, ASXL1, CBL, and RUNX1.
27282351altered expressionPancreatic Intraductal Papillary Mucinous Neoplasm, Oncocytic-TypeARHGAP26, ASXL1, EPHA8, and ERBB4 genes were somatically altered in more than one of these typical 'oncocytic subtype' of intraductal papillary mucinous neoplasms but not in the other two atypical ones.
Summary
SymbolASXL1
Nameadditional sex combs like 1, transcriptional regulator
Aliases KIAA0978; additional sex combs like 1 (Drosophila); BOPS; additional sex combs like 1; Additional sex combs- ......
Location20q11.21
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Somatic copy number alteration in primary tomur tissue
> The Cancer Genome Atlas (TCGA)
 


  Correlation between expression and SCNA as well as percentage of patients in different status.
Cancer Full Name # Sample R P % Loss % Neutral % Gain Status
BLCABladder urothelial carcinoma4040.6934.02e-590.735.963.4Gain
BRCABreast invasive carcinoma10750.4843.86e-64552.942Gain
CESCCervical and endocervical cancers2920.6745.95e-401.453.844.9Gain
COADColon adenocarcinoma4490.8032.07e-102028.571.5Gain
ESCAEsophageal carcinoma1830.6132.88e-202.231.166.7Gain
GBMGlioblastoma multiforme1470.4711.76e-09261.936.1Gain
HNSCHead and Neck squamous cell carcinoma5140.6844.15e-722.553.743.8Gain
KIRCKidney renal clear cell carcinoma5250.2336.62e-08077.522.5Neutral
KIRPKidney renal papillary cell carcinoma2880.5441.49e-230.364.635.1Gain
LAMLAcute Myeloid Leukemia1660.0830.286098.81.2Neutral
LGGBrain Lower Grade Glioma5130.1520.0005460.4918.6Neutral
LIHCLiver hepatocellular carcinoma3640.5039.81e-252.76730.2Neutral
LUADLung adenocarcinoma5120.3951.38e-2010.946.542.6Gain
LUSCLung squamous cell carcinoma4980.6543.58e-624.236.759Gain
OVOvarian serous cystadenocarcinoma3000.6623.03e-392.736.760.7Gain
PAADPancreatic adenocarcinoma1770.2995.41e-052.37423.7Neutral
PCPGPheochromocytoma and Paraganglioma1620.1730.02791.292.66.2Neutral
PRADProstate adenocarcinoma4910.3883.98e-192.2916.7Neutral
READRectum adenocarcinoma1640.7328.84e-29011.688.4Gain
SARCSarcoma2550.4663.56e-155.156.138.8Gain
SKCMSkin Cutaneous Melanoma3670.5643.86e-321.649.948.5Gain
STADStomach adenocarcinoma4130.73.79e-621.236.362.5Gain
TGCTTesticular Germ Cell Tumors1500.2990.0002047.36230.7Neutral
THCAThyroid carcinoma4970.010.817097.62.4Neutral
THYMThymoma119-0.1520.09790.890.88.4Neutral
UCECUterine Corpus Endometrial Carcinoma5370.6443.83e-64271.326.6Neutral
Summary
SymbolASXL1
Nameadditional sex combs like 1, transcriptional regulator
Aliases KIAA0978; additional sex combs like 1 (Drosophila); BOPS; additional sex combs like 1; Additional sex combs- ......
Location20q11.21
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Methylation level in the promoter region of CR
> Methylation level in the promoter region of CR
 


  Correlation between expression and methylation as well as differential methylation analysis.
Cancer Full Name R P # N # T Delta beta (T vs N) P value (T vs N) Status
BLCABladder urothelial carcinoma-0.3371.38e-1217408-0.0010.0965NS/NA
BRCABreast invasive carcinoma-0.1911.44e-08837850.231.85e-19Increased
CESCCervical and endocervical cancers-0.2863.7e-073306NANANS/NA
COADColon adenocarcinoma-0.673019297-0.0170.000809NS/NA
ESCAEsophageal carcinoma-0.3478.38e-079185NANANS/NA
GBMGlioblastoma multiforme-0.2840.0222164NANANS/NA
HNSCHead and Neck squamous cell carcinoma-0.2627.14e-1020522-0.010.00875NS/NA
KIRCKidney renal clear cell carcinoma-0.1270.0191243190.0020.00107NS/NA
KIRPKidney renal papillary cell carcinoma-0.2856.03e-0723275-0.0010.311NS/NA
LAMLAcute Myeloid Leukemia-0.1190.1220170NANANS/NA
LGGBrain Lower Grade Glioma-0.2562.38e-090530NANANS/NA
LIHCLiver hepatocellular carcinoma-0.3335.1e-1241373-0.2421.46e-14Decreased
LUADLung adenocarcinoma-0.2438.07e-08214560.020.0826NS/NA
LUSCLung squamous cell carcinoma-0.3126.89e-108370NANANS/NA
OVOvarian serous cystadenocarcinoma-0.7170.036909NANANS/NA
PAADPancreatic adenocarcinoma-0.0770.34179NANANS/NA
PCPGPheochromocytoma and Paraganglioma-0.1060.1493184NANANS/NA
PRADProstate adenocarcinoma-0.1330.0020435498-0.0030.214NS/NA
READRectum adenocarcinoma-0.5830299NANANS/NA
SARCSarcoma-0.2437.13e-050263NANANS/NA
SKCMSkin Cutaneous Melanoma-0.2993.94e-111471NANANS/NA
STADStomach adenocarcinoma-0.41400372NANANS/NA
TGCTTesticular Germ Cell Tumors-0.2120.007990156NANANS/NA
THCAThyroid carcinoma-0.0620.14650509-0.0020.255NS/NA
THYMThymoma-0.0760.4032120NANANS/NA
UCECUterine Corpus Endometrial Carcinoma-0.3481.47e-1434431-0.0020.943NS/NA
Summary
SymbolASXL1
Nameadditional sex combs like 1, transcriptional regulator
Aliases KIAA0978; additional sex combs like 1 (Drosophila); BOPS; additional sex combs like 1; Additional sex combs- ......
Location20q11.21
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Primary tumor tissue from TCGA
> Normal tumor tissue from HPA
>The Cancer Genome Atlas (TCGA)
 
There is no record.
> The Human Protein Atlas (HPA)
 
There is no antibody staining data.
Summary
SymbolASXL1
Nameadditional sex combs like 1, transcriptional regulator
Aliases KIAA0978; additional sex combs like 1 (Drosophila); BOPS; additional sex combs like 1; Additional sex combs- ......
Location20q11.21
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Association between expresson and subtype
> Overall survival analysis based on expression
> Association between expresson and stage
> Association between expresson and grade
> Subtype
 


  Association between expresson and subtype.
Cancer Full Name # Patients P Value (Kruskal-Wallis) Association Source
BLCABladder urothelial carcinoma1280.396NS24476821
BRCABreast invasive carcinoma5216.82e-12Significant23000897
COADColon adenocarcinoma1493.71e-14Significant22810696
GBMGlioblastoma multiforme1574.64e-05Significant26824661
HNSCHead and Neck squamous cell carcinoma2790.0595NS25631445
KIRPKidney renal papillary cell carcinoma1610.000755Significant26536169
LGGBrain Lower Grade Glioma5130.000355Significant26824661
LUADLung adenocarcinoma2300.00404Significant25079552
LUSCLung squamous cell carcinoma1781.23e-06Significant22960745
OVOvarian serous cystadenocarcinoma2870.0012Significant21720365
PRADProstate adenocarcinoma3330.00145Significant26544944
READRectum adenocarcinoma672.9e-05Significant22810696
SKCMSkin Cutaneous Melanoma3150.301NS26091043
STADStomach adenocarcinoma2775.06e-14Significant25079317
THCAThyroid carcinoma3910.175NS25417114
UCECUterine Corpus Endometrial Carcinoma2323.62e-10Significant23636398
> Overall survival
 

  Overall survival analysis based on expression.
Cancer Full Name # Patients Hazard Ratio P Value (Log Rank Test) Association
BLCABladder urothelial carcinoma405 0.9820.93NS
BRCABreast invasive carcinoma1079 0.8590.519NS
CESCCervical and endocervical cancers291 1.4820.209NS
COADColon adenocarcinoma439 1.230.499NS
ESCAEsophageal carcinoma184 0.8080.496NS
GBMGlioblastoma multiforme158 1.0280.912NS
HNSCHead and Neck squamous cell carcinoma518 0.6850.0426Longer
KIRCKidney renal clear cell carcinoma531 1.9150.00186Shorter
KIRPKidney renal papillary cell carcinoma287 1.5870.294NS
LAMLAcute Myeloid Leukemia149 0.8050.501NS
LGGBrain Lower Grade Glioma511 1.3130.306NS
LIHCLiver hepatocellular carcinoma365 1.0890.738NS
LUADLung adenocarcinoma502 0.9180.674NS
LUSCLung squamous cell carcinoma494 1.4490.0513NS
OVOvarian serous cystadenocarcinoma303 1.2090.384NS
PAADPancreatic adenocarcinoma177 0.6720.216NS
PCPGPheochromocytoma and Paraganglioma179 642753707.6970.299NS
PRADProstate adenocarcinoma497 2.2310.346NS
READRectum adenocarcinoma159 0.7120.597NS
SARCSarcoma259 2.2120.00512Shorter
SKCMSkin Cutaneous Melanoma459 1.420.0591NS
STADStomach adenocarcinoma388 1.1970.455NS
TGCTTesticular Germ Cell Tumors134 00.48NS
THCAThyroid carcinoma500 1.2360.726NS
THYMThymoma119 00.00305Longer
UCECUterine Corpus Endometrial Carcinoma543 2.0720.00946Shorter
> Stage
 

  Association between expresson and stage.
Cancer Full Name # Patients R Value (Spearman) P Value (Spearman) Association
BLCABladder urothelial carcinoma406 -0.0710.153NS
BRCABreast invasive carcinoma1071 -0.0350.25NS
CESCCervical and endocervical cancers167 0.1310.0927NS
COADColon adenocarcinoma445 0.0590.215NS
ESCAEsophageal carcinoma162 0.050.528NS
HNSCHead and Neck squamous cell carcinoma448 0.0250.603NS
KIRCKidney renal clear cell carcinoma531 0.0690.114NS
KIRPKidney renal papillary cell carcinoma260 0.040.519NS
LIHCLiver hepatocellular carcinoma347 0.1310.0146Higher
LUADLung adenocarcinoma507 -0.0370.409NS
LUSCLung squamous cell carcinoma497 0.0020.969NS
OVOvarian serous cystadenocarcinoma302 -0.0820.153NS
PAADPancreatic adenocarcinoma176 0.0560.461NS
READRectum adenocarcinoma156 0.0570.479NS
SKCMSkin Cutaneous Melanoma410 -0.1290.00892Lower
STADStomach adenocarcinoma392 0.0310.534NS
TGCTTesticular Germ Cell Tumors81 -0.0390.726NS
THCAThyroid carcinoma499 -0.0440.324NS
UCECUterine Corpus Endometrial Carcinoma501 0.1490.000839Higher
> Grade
 

  Association between expresson and grade.
Cancer Full Name # Patients R Value (Spearman) P Value (Spearman) Association
CESCCervical and endocervical cancers272 0.0910.136NS
HNSCHead and Neck squamous cell carcinoma498 0.2415.3e-08Higher
KIRCKidney renal clear cell carcinoma525 0.0370.399NS
LGGBrain Lower Grade Glioma514 0.1380.00167Higher
LIHCLiver hepatocellular carcinoma366 0.2251.38e-05Higher
OVOvarian serous cystadenocarcinoma296 0.0630.281NS
PAADPancreatic adenocarcinoma176 0.020.789NS
STADStomach adenocarcinoma406 -0.1150.021Lower
UCECUterine Corpus Endometrial Carcinoma534 0.2363.54e-08Higher
Summary
SymbolASXL1
Nameadditional sex combs like 1, transcriptional regulator
Aliases KIAA0978; additional sex combs like 1 (Drosophila); BOPS; additional sex combs like 1; Additional sex combs- ......
Location20q11.21
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Targets inferred by reverse engineering method
> Targets identified by ChIP-seq data
> Targets inferred by reverse engineering method
 
> Targets identified by ChIP-seq data
 
Summary
SymbolASXL1
Nameadditional sex combs like 1, transcriptional regulator
Aliases KIAA0978; additional sex combs like 1 (Drosophila); BOPS; additional sex combs like 1; Additional sex combs- ......
Location20q11.21
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Drugs from DrugBank database
> Drugs from DrugBank database
 
There is no record for ASXL1.
Summary
SymbolASXL1
Nameadditional sex combs like 1, transcriptional regulator
Aliases KIAA0978; additional sex combs like 1 (Drosophila); BOPS; additional sex combs like 1; Additional sex combs- ......
Location20q11.21
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Protein-Protein Interaction Network
> miRNA Regulatory Relationship
> Interactions from Text Mining
> Protein-Protein Interaction Network
 
> miRNA Regulatory Relationship
 
> Interactions from Text Mining
 
PMID Cancer Hierarchy Gene Relation to CR Evidence
22929312Acute Myeloid LeukemiapartnerNPM1correlationAlternatively, NPM1 mutations were concurrently found with ASXL1, IDH1, or IDH2 with a variable incidence.
23628959Atypical Chronic Myeloid Leukemia, BCR-ABL1 NegativepartnerSETBP1mutassociationMoreover, SETBP1mut were strongly associated with ASXL1 and CBL mutations (P<0.001 for both) and were mutually exclusive of JAK2 and TET2 mutations.
24442206Myelodysplastic SyndromepartnerRUNX1; EZH2; IDH; NRAS; JAK2; SETBP1; SRSF2associationASXL1 mutation was closely associated with trisomy 8 and mutations of RUNX1, EZH2, IDH, NRAS, JAK2, SETBP1 and SRSF2, but was negatively associated with SF3B1 mutation.
27616637Myelodysplastic SyndromedownstreamH3K27me3; PRC2positive regulation; regulationIt has been reported that a loss of ASXL1 leads to a reduction of H3K27me3 via the polycomb repressive complex 2 (PRC2).
25306901Myelodysplastic SyndromepartnerSETBP1associationHere, we find that SET-binding protein 1 (SETBP1) mutations (SETBP1-MT) are enriched among ASXL1-mutated MDS patients and associated with increased incidence of leukemic transformation, as well as shorter survival, suggesting that SETBP1-MT play a critical role in leukemic transformation of MDS.
24218140Myelodysplastic SyndromepartnerTet2co-mutationAsxl1 deletion reduces hematopoietic stem cell self-renewal, which is restored by concomitant deletion of Tet2, a gene commonly co-mutated with ASXL1 in MDS patients.