CR2Cancer

Summary
Symbol	EZH2
Name	enhancer of zeste 2 polycomb repressive complex 2 subunit
Aliases	ENX-1; KMT6; KMT6A; enhancer of zeste (Drosophila) homolog 2; enhancer of zeste homolog 2 (Drosophila); ENX1 ......
Location	7q36.1
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

[ TOP ]

Domain

PF11616 WD repeat binding protein EZH2
PF00856 SET domain

Function

Polycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH2 complex, which methylates 'Lys-9' (H3K9me) and 'Lys-27' (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene. Able to mono-, di- and trimethylate 'Lys-27' of histone H3 to form H3K27me1, H3K27me2 and H3K27me3, respectively. Displays a preference for substrates with less methylation, loses activity when progressively more methyl groups are incorporated into H3K27, H3K27me0 > H3K27me1 > H3K27me2 (PubMed:22323599). Compared to EZH1-containing complexes, it is more abundant in embryonic stem cells and plays a major role in forming H3K27me3, which is required for embryonic stem cell identity and proper differentiation. The PRC2/EED-EZH2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems. Genes repressed by the PRC2/EED-EZH2 complex include HOXC8, HOXA9, MYT1, CDKN2A and retinoic acid target genes. EZH2 can also methylate non-histone proteins such as the transcription factor GATA4 and the nuclear receptor RORA. Regulates the circadian clock via histone methylation at the promoter of the circadian genes. Essential for the CRY1/2-mediated repression of the transcriptional activation of PER1/2 by the CLOCK-ARNTL/BMAL1 heterodimer; involved in the di and trimethylation of 'Lys-27' of histone H3 on PER1/2 promoters which is necessary for the CRY1/2 proteins to inhibit transcription.

Classification

Class	Modification	Substrate	Product	PubMed
Histone modification write, Polycomb group (PcG) protein	Histone methylation, #	H3K27	H3K27me1, H3K27me2, H3K27me3	19026781

> Gene Ontology [ TOP ]
Biological Process	GO:0000082 G1/S transition of mitotic cell cycle GO:0000302 response to reactive oxygen species GO:0001837 epithelial to mesenchymal transition GO:0001889 liver development GO:0003012 muscle system process GO:0003299 muscle hypertrophy in response to stress GO:0003300 cardiac muscle hypertrophy GO:0006304 DNA modification GO:0006305 DNA alkylation GO:0006306 DNA methylation GO:0006354 DNA-templated transcription, elongation GO:0006368 transcription elongation from RNA polymerase II promoter GO:0006479 protein methylation GO:0006979 response to oxidative stress GO:0007346 regulation of mitotic cell cycle GO:0007623 circadian rhythm GO:0008213 protein alkylation GO:0008544 epidermis development GO:0009913 epidermal cell differentiation GO:0010035 response to inorganic substance GO:0010717 regulation of epithelial to mesenchymal transition GO:0010718 positive regulation of epithelial to mesenchymal transition GO:0010720 positive regulation of cell development GO:0010948 negative regulation of cell cycle process GO:0010975 regulation of neuron projection development GO:0010976 positive regulation of neuron projection development GO:0014013 regulation of gliogenesis GO:0014834 skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration GO:0014887 cardiac muscle adaptation GO:0014888 striated muscle adaptation GO:0014896 muscle hypertrophy GO:0014897 striated muscle hypertrophy GO:0014898 cardiac muscle hypertrophy in response to stress GO:0016358 dendrite development GO:0016570 histone modification GO:0016571 histone methylation GO:0018022 peptidyl-lysine methylation GO:0018205 peptidyl-lysine modification GO:0021537 telencephalon development GO:0021543 pallium development GO:0021549 cerebellum development GO:0021695 cerebellar cortex development GO:0021761 limbic system development GO:0021766 hippocampus development GO:0022037 metencephalon development GO:0030522 intracellular receptor signaling pathway GO:0030856 regulation of epithelial cell differentiation GO:0030857 negative regulation of epithelial cell differentiation GO:0030900 forebrain development GO:0030902 hindbrain development GO:0031099 regeneration GO:0031100 animal organ regeneration GO:0031346 positive regulation of cell projection organization GO:0032259 methylation GO:0032355 response to estradiol GO:0032784 regulation of DNA-templated transcription, elongation GO:0032785 negative regulation of DNA-templated transcription, elongation GO:0033674 positive regulation of kinase activity GO:0034243 regulation of transcription elongation from RNA polymerase II promoter GO:0034244 negative regulation of transcription elongation from RNA polymerase II promoter GO:0034502 protein localization to chromosome GO:0034599 cellular response to oxidative stress GO:0034614 cellular response to reactive oxygen species GO:0034968 histone lysine methylation GO:0035983 response to trichostatin A GO:0035984 cellular response to trichostatin A GO:0036333 hepatocyte homeostasis GO:0040029 regulation of gene expression, epigenetic GO:0042063 gliogenesis GO:0042246 tissue regeneration GO:0042542 response to hydrogen peroxide GO:0042692 muscle cell differentiation GO:0042752 regulation of circadian rhythm GO:0043403 skeletal muscle tissue regeneration GO:0043405 regulation of MAP kinase activity GO:0043406 positive regulation of MAP kinase activity GO:0043410 positive regulation of MAPK cascade GO:0043414 macromolecule methylation GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity GO:0043500 muscle adaptation GO:0044728 DNA methylation or demethylation GO:0044770 cell cycle phase transition GO:0044772 mitotic cell cycle phase transition GO:0044843 cell cycle G1/S phase transition GO:0045604 regulation of epidermal cell differentiation GO:0045605 negative regulation of epidermal cell differentiation GO:0045666 positive regulation of neuron differentiation GO:0045682 regulation of epidermis development GO:0045683 negative regulation of epidermis development GO:0045786 negative regulation of cell cycle GO:0045814 negative regulation of gene expression, epigenetic GO:0045860 positive regulation of protein kinase activity GO:0045930 negative regulation of mitotic cell cycle GO:0046677 response to antibiotic GO:0048384 retinoic acid receptor signaling pathway GO:0048385 regulation of retinoic acid receptor signaling pathway GO:0048387 negative regulation of retinoic acid receptor signaling pathway GO:0048511 rhythmic process GO:0048732 gland development GO:0048762 mesenchymal cell differentiation GO:0048872 homeostasis of number of cells GO:0050769 positive regulation of neurogenesis GO:0050773 regulation of dendrite development GO:0051090 regulation of sequence-specific DNA binding transcription factor activity GO:0051146 striated muscle cell differentiation GO:0051147 regulation of muscle cell differentiation GO:0051148 negative regulation of muscle cell differentiation GO:0051153 regulation of striated muscle cell differentiation GO:0051154 negative regulation of striated muscle cell differentiation GO:0051962 positive regulation of nervous system development GO:0060485 mesenchyme development GO:0061008 hepaticobiliary system development GO:0070301 cellular response to hydrogen peroxide GO:0070314 G1 to G0 transition GO:0070734 histone H3-K27 methylation GO:0071168 protein localization to chromatin GO:0071236 cellular response to antibiotic GO:0071407 cellular response to organic cyclic compound GO:0071417 cellular response to organonitrogen compound GO:0071900 regulation of protein serine/threonine kinase activity GO:0071902 positive regulation of protein serine/threonine kinase activity GO:0097421 liver regeneration GO:0098532 histone H3-K27 trimethylation GO:0098727 maintenance of cell number GO:1900006 positive regulation of dendrite development GO:1901987 regulation of cell cycle phase transition GO:1901988 negative regulation of cell cycle phase transition GO:1901990 regulation of mitotic cell cycle phase transition GO:1901991 negative regulation of mitotic cell cycle phase transition GO:1902806 regulation of cell cycle G1/S phase transition GO:1902807 negative regulation of cell cycle G1/S phase transition GO:1904772 response to tetrachloromethane GO:2000045 regulation of G1/S transition of mitotic cell cycle GO:2000134 negative regulation of G1/S transition of mitotic cell cycle
Molecular Function	GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding GO:0001046 core promoter sequence-specific DNA binding GO:0001047 core promoter binding GO:0003682 chromatin binding GO:0008168 methyltransferase activity GO:0008170 N-methyltransferase activity GO:0008276 protein methyltransferase activity GO:0008757 S-adenosylmethionine-dependent methyltransferase activity GO:0016278 lysine N-methyltransferase activity GO:0016279 protein-lysine N-methyltransferase activity GO:0016741 transferase activity, transferring one-carbon groups GO:0018024 histone-lysine N-methyltransferase activity GO:0031490 chromatin DNA binding GO:0042054 histone methyltransferase activity GO:0043021 ribonucleoprotein complex binding GO:0043566 structure-specific DNA binding GO:0046976 histone methyltransferase activity (H3-K27 specific) GO:0070878 primary miRNA binding GO:1990841 promoter-specific chromatin binding
Cellular Component	GO:0000785 chromatin GO:0000790 nuclear chromatin GO:0031519 PcG protein complex GO:0034708 methyltransferase complex GO:0035097 histone methyltransferase complex GO:0035098 ESC/E(Z) complex GO:0044454 nuclear chromosome part GO:0045120 pronucleus

> KEGG and Reactome Pathway [ TOP ]
KEGG	hsa00310 Lysine degradation
Reactome	R-HSA-5619507: Activation of HOX genes during differentiation R-HSA-5617472: Activation of anterior HOX genes in hindbrain development during early embryogenesis R-HSA-2559583: Cellular Senescence R-HSA-2262752: Cellular responses to stress R-HSA-3247509: Chromatin modifying enzymes R-HSA-4839726: Chromatin organization R-HSA-1266738: Developmental Biology R-HSA-212165: Epigenetic regulation of gene expression R-HSA-74160: Gene Expression R-HSA-2559580: Oxidative Stress Induced Senescence R-HSA-3214841: PKMTs methylate histone lysines R-HSA-212300: PRC2 methylates histones and DNA

> KEGG and Reactome Pathway

[ TOP ]

KEGG

hsa00310 Lysine degradation

Reactome

R-HSA-5619507: Activation of HOX genes during differentiation
R-HSA-5617472: Activation of anterior HOX genes in hindbrain development during early embryogenesis
R-HSA-2559583: Cellular Senescence
R-HSA-2262752: Cellular responses to stress
R-HSA-3247509: Chromatin modifying enzymes
R-HSA-4839726: Chromatin organization
R-HSA-1266738: Developmental Biology
R-HSA-212165: Epigenetic regulation of gene expression
R-HSA-74160: Gene Expression
R-HSA-2559580: Oxidative Stress Induced Senescence
R-HSA-3214841: PKMTs methylate histone lysines
R-HSA-212300: PRC2 methylates histones and DNA

Summary
Symbol	EZH2
Name	enhancer of zeste 2 polycomb repressive complex 2 subunit
Aliases	ENX-1; KMT6; KMT6A; enhancer of zeste (Drosophila) homolog 2; enhancer of zeste homolog 2 (Drosophila); ENX1 ......
Location	7q36.1
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) [ TOP ]

> Cancer Cell Line Encyclopedia (CCLE) [ TOP ]
There is no record.

> Catalogue of Somatic Mutations in Cancer (COSMIC)

[ TOP ]

COSMIC ID	CDS change	AA change	Mutation Type	Anatomical Site
COSM266482	c.638G>A	p.R213H	Substitution - Missense	Large_intestine
COSM1251647	c.512T>C	p.F171S	Substitution - Missense	Stomach
COSM4604193	c.1258C>G	p.Q420E	Substitution - Missense	Upper_aerodigestive_tract
COSM1685350	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87274	c.1505G>A	p.R502Q	Substitution - Missense	Endometrium
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37030	c.1936T>C	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53010	c.2199C>A	p.Y733*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133047	c.394C>T	p.P132S	Substitution - Missense	Skin
COSM53015	c.727A>C	p.K243Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5989988	c.1711T>C	p.C571R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133051	c.1657C>T	p.Q553*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5463601	c.432T>G	p.T144T	Substitution - coding silent	Large_intestine
COSM1685350	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1583052	c.?	p.G395fs*3	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133056	c.1947+39_1947+42delATAC	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5608698	c.1458C>A	p.P486P	Substitution - coding silent	Skin
COSM3718300	c.?	p.E645D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM96480	c.475G>A	p.G159R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1738146	c.1_2256del2256	p.0?	Whole gene deletion	Haematopoietic_and_lymphoid_tissue
COSM5879093	c.1720A>G	p.K574E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1087033	c.2233G>A	p.E745K	Substitution - Missense	Stomach
COSM5944303	c.2232delC	p.I744fs*>8	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM37030	c.1936T>C	p.Y646H	Substitution - Missense	Salivary_gland
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53021	c.2191T>G	p.Y731D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37032	c.1937A>G	p.Y646C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37030	c.1936T>C	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1000723	c.1876G>A	p.V626M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4384268	c.1779_1780delTG	p.C593fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53028	c.434T>G	p.F145C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4830922	c.1090C>T	p.P364S	Substitution - Missense	Cervix
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3259655	c.1253G>A	p.R418Q	Substitution - Missense	Large_intestine
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716180	c.?	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM220386	c.2045C>G	p.A682G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52980	c.2069G>A	p.R690H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49149	c.745G>A	p.E249K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945110	c.1942G>A	p.G648R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1000723	c.1876G>A	p.V626M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM85769	c.?	p.Y646?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37030	c.1936T>C	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133044	c.403G>A	p.G135R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1087039	c.2033T>G	p.F678C	Substitution - Missense	Endometrium
COSM1666943	c.?	p.L101P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945137	c.363G>A	p.M121I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3879128	c.52C>T	p.R18C	Substitution - Missense	Stomach
COSM144179	c.?	p.T393M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133049	c.2177A>T	p.E726V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3762469	c.553G>C	p.D185H	Substitution - Missense	Soft_tissue
COSM5945131	c.392T>A	p.I131N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM250087	c.?	p.D183fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1166639	c.2083T>C	p.S695P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53001	c.729-2delA	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM53009	c.2079T>A	p.N693K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4385533	c.1159A>T	p.R387W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Skin
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3413974	c.2000T>C	p.M667T	Substitution - Missense	Oesophagus
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1169382	c.?	p.R690H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1735880	c.118-4delT	p.?	Unknown	Central_nervous_system
COSM52995	c.863G>A	p.R288Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1312805	c.434_435TC>AT	p.F145Y	Substitution - Missense	Urinary_tract
COSM1272063	c.1922A>T	p.E641V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49156	c.1212_1216delGAAGA	p.K405fs*2	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716184	c.?	p.A682G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53035	c.1513_1513delG	p.A505fs*9	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53011	c.1033G>A	p.A345T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5762881	c.198_199insCA	p.P67fs*6	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716176	c.?	p.Y646C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37030	c.1936T>C	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1000723	c.1876G>A	p.V626M	Substitution - Missense	Oesophagus
COSM4854707	c.877G>C	p.D293H	Substitution - Missense	Cervix
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716180	c.?	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3259641	c.1636A>C	p.N546H	Substitution - Missense	Large_intestine
COSM53000	c.2054_2054delA	p.K685fs*12	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1169382	c.?	p.R690H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685350	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4169587	c.?	p.A656V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53024	c.730T>G	p.Y244D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945118	c.1883G>T	p.G628V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1087045	c.1356C>G	p.Y452*	Substitution - Nonsense	Endometrium
COSM5357953	c.1097A>C	p.N366T	Substitution - Missense	Large_intestine
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37030	c.1936T>C	p.Y646H	Substitution - Missense	Bone
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945125	c.796G>A	p.G266R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1169382	c.?	p.R690H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944126	c.1690G>A	p.G564R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1205908	c.1072C>T	p.R358C	Substitution - Missense	Large_intestine
COSM3411770	c.363G>C	p.M121I	Substitution - Missense	Central_nervous_system
COSM85769	c.?	p.Y646?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM85769	c.?	p.Y646?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1169382	c.?	p.R690H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716182	c.?	p.A692V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2270986	c.446_447delTA	p.L149fs*5	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52999	c.2187_2188insT	p.D730fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4384259	c.1976delG	p.R659fs*16	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1000721	c.862C>T	p.R288*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53041	c.2195+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52980	c.2069G>A	p.R690H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5879075	c.2176G>C	p.E726Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52994	c.1992T>G	p.D664E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53020	c.755_756insC	p.G254fs*6	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53031	c.965A>G	p.N322S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4384266	c.1798delG	p.D600fs*75	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53019	c.1967C>T	p.A656V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716182	c.?	p.A692V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716182	c.?	p.A692V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM280913	c.507A>C	p.E169D	Substitution - Missense	Large_intestine
COSM5879067	c.2229_2234delCATCGA	p.I744_E745delIE	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1738139	c.?	p.K718fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1319005	c.2230_2231insTGCAT	p.I744fs*>10	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM144185	c.2226_2227insAAAACC	p.V742_G743insKT	Insertion - In frame	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3735009	c.?	p.A103V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52993	c.982C>T	p.Q328*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM37030	c.1936T>C	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944297	c.1773_1777delTACTT	p.T592fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM220386	c.2045C>G	p.A682G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4168148	c.1672+5G>T	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5948814	c.791T>C	p.I264T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53004	c.1691_1691delG	p.G564fs*111	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1315853	c.1526G>C	p.R509T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133045	c.1697G>A	p.R566H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716180	c.?	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1738145	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM53033	c.2078A>T	p.N693I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5879071	c.2228_2229insGCCCCGG	p.I744fs*>11	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716180	c.?	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1622513	c.492G>T	p.G164G	Substitution - coding silent	Liver
COSM1716184	c.?	p.A682G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945142	c.1A>G	p.M1V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1738146	c.1_2256del2256	p.0?	Whole gene deletion	Haematopoietic_and_lymphoid_tissue
COSM1600393	c.?_?ins?	p.?fs*?	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5752096	c.2191_2192insGG	p.Y731fs*10	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1272063	c.1922A>T	p.E641V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM32829	c.1381_1382insTA	p.R461fs*3	Insertion - Frameshift	Large_intestine
COSM1235018	c.1991A>G	p.D664G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1315856	c.1642_1643insT	p.C548fs*2	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3259667	c.885C>T	p.F295F	Substitution - coding silent	Skin
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM250089	c.?	p.K61fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM53032	c.1991A>T	p.D664V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4384286	c.1003G>A	p.G335R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4384272	c.1708C>T	p.Q570*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53040	c.2080C>T	p.H694Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4384296	c.458A>G	p.Y153C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716176	c.?	p.Y646C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944307	c.1119delC	p.T374fs*50	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3719895	c.2029+1G>C	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5967235	c.?	p.Y701H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4980705	c.637C>T	p.R213C	Substitution - Missense	Oesophagus
COSM52980	c.2069G>A	p.R690H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM485012	c.1768T>A	p.C590S	Substitution - Missense	Kidney
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5225478	c.589_590delGA	p.E197fs*12	Deletion - Frameshift	Breast
COSM5351688	c.1943G>T	p.G648V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49154	c.2068C>T	p.R690C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1448989	c.1730C>T	p.P577L	Substitution - Missense	Large_intestine
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM306072	c.2051G>A	p.R684H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53032	c.1991A>T	p.D664V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3259620	c.2202C>T	p.S734S	Substitution - coding silent	Large_intestine
COSM4462538	c.1250C>T	p.S417F	Substitution - Missense	Skin
COSM1241136	c.1546+1G>A	p.?	Unknown	Oesophagus
COSM53016	c.763G>A	p.A255T	Substitution - Missense	Soft_tissue
COSM3778215	c.812C>A	p.S271Y	Substitution - Missense	Urinary_tract
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945123	c.1642T>C	p.C548R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53003	c.73C>T	p.R25*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1315832	c.65_66delAG	p.E22fs*14	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4384276	c.1673-4G>C	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5427550	c.2005A>G	p.S669G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5990063	c.1060delC	p.R354fs*70	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3778213	c.1368C>T	p.F456F	Substitution - coding silent	Urinary_tract
COSM4384274	c.1682G>C	p.R561P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4603623	c.?	p.S695L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716184	c.?	p.A682G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM85769	c.?	p.Y646?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716180	c.?	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM744987	c.1029C>G	p.L343L	Substitution - coding silent	Lung
COSM4384280	c.1408C>T	p.Q470*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5944128	c.1964A>G	p.E655G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3259669	c.872A>C	p.K291T	Substitution - Missense	Large_intestine
COSM1315850	c.305A>G	p.N102S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Skin
COSM37030	c.1936T>C	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4384251	c.2009T>C	p.F670S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716177	c.?	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37030	c.1936T>C	p.Y646H	Substitution - Missense	Skin
COSM53037	c.1525A>G	p.R509G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4445905	c.1505+3G>A	p.?	Unknown	Skin
COSM1087053	c.867T>C	p.C289C	Substitution - coding silent	Endometrium
COSM4384278	c.1582T>C	p.C528R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3259673	c.835C>T	p.H279Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5020474	c.2110+6T>G	p.?	Unknown	Soft_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM390937	c.2159C>T	p.A720V	Substitution - Missense	Lung
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133051	c.1657C>T	p.Q553*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1251645	c.1012G>C	p.E338Q	Substitution - Missense	Oesophagus
COSM132884	c.2152_2153delAA	p.K718fs*12	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1488340	c.555C>T	p.D185D	Substitution - coding silent	Breast
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1315855	c.1436C>A	p.S479Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM85769	c.?	p.Y646?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52999	c.2187_2188insT	p.D730fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5990069	c.1545delG	p.D516fs*27	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3259639	c.1680C>A	p.N560K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716182	c.?	p.A692V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4384298	c.437T>A	p.I146N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1000723	c.1876G>A	p.V626M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716180	c.?	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49154	c.2068C>T	p.R690C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49154	c.2068C>T	p.R690C	Substitution - Missense	Skin
COSM4384246	c.2084C>T	p.S695L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM306072	c.2051G>A	p.R684H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4771470	c.562G>A	p.D188N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM744996	c.1698C>T	p.R566R	Substitution - coding silent	Lung
COSM1716177	c.?	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM96480	c.475G>A	p.G159R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53022	c.172C>T	p.Q58*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5608696	c.2237G>A	p.R746K	Substitution - Missense	Skin
COSM133047	c.394C>T	p.P132S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53009	c.2079T>A	p.N693K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1000723	c.1876G>A	p.V626M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716177	c.?	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133054	c.484+13C>T	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1448987	c.1741G>A	p.A581T	Substitution - Missense	Large_intestine
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1738146	c.1_2256del2256	p.0?	Whole gene deletion	Haematopoietic_and_lymphoid_tissue
COSM3635738	c.1391G>A	p.G464E	Substitution - Missense	Skin
COSM3635746	c.677C>T	p.A226V	Substitution - Missense	Skin
COSM1716880	c.837C>G	p.H279Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37032	c.1937A>G	p.Y646C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM600065	c.2050C>A	p.R684S	Substitution - Missense	Skin
COSM37030	c.1936T>C	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52980	c.2069G>A	p.R690H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52996	c.619C>T	p.R207*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4384246	c.2084C>T	p.S695L	Substitution - Missense	Cervix
COSM4603618	c.?	p.V742D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303670	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM306072	c.2051G>A	p.R684H	Substitution - Missense	Large_intestine
COSM5945138	c.82C>T	p.Q28*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5547439	c.1919delA	p.N640fs*35	Deletion - Frameshift	Prostate
COSM53031	c.965A>G	p.N322S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4385637	c.1114_1115insC	p.T374fs*3	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52980	c.2069G>A	p.R690H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4384296	c.458A>G	p.Y153C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1738140	c.?	p.A255T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52998	c.1992T>A	p.D664E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49155	c.2025C>A	p.N675K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53026	c.216_217delTT	p.S73fs*8	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3431350	c.18G>A	p.K6K	Substitution - coding silent	Large_intestine
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5879069	c.2231_2232insGGCAT	p.I744fs*>10	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5487424	c.2231_2232insA	p.E745fs*>8	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3663014	c.728+7A>G	p.?	Unknown	Liver
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37032	c.1937A>G	p.Y646C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM220386	c.2045C>G	p.A682G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Skin
COSM85769	c.?	p.Y646?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133038	c.2035G>A	p.V679M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37030	c.1936T>C	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53013	c.2138T>C	p.I713T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5467062	c.666A>C	p.K222N	Substitution - Missense	Large_intestine
COSM1205908	c.1072C>T	p.R358C	Substitution - Missense	Skin
COSM3411768	c.1544A>G	p.K515R	Substitution - Missense	Central_nervous_system
COSM4384290	c.817C>T	p.Q273*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5020984	c.396T>C	p.P132P	Substitution - coding silent	Soft_tissue
COSM2270987	c.1660T>C	p.C554R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5879083	c.2021T>C	p.L674S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1087064	c.233G>A	p.R78H	Substitution - Missense	Large_intestine
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5751760	c.74G>GT	p.L26fs*11	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5967238	c.?	p.G660R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716177	c.?	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5879098	c.933T>A	p.Y311*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685350	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53031	c.965A>G	p.N322S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3413974	c.2000T>C	p.M667T	Substitution - Missense	Large_intestine
COSM3762469	c.553G>C	p.D185H	Substitution - Missense	Thyroid
COSM144172	c.397T>C	p.Y133H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1205910	c.1283A>C	p.N428T	Substitution - Missense	Large_intestine
COSM49149	c.745G>A	p.E249K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM86981	c.736G>T	p.E246*	Substitution - Nonsense	Endometrium
COSM1087033	c.2233G>A	p.E745K	Substitution - Missense	Endometrium
COSM1448989	c.1730C>T	p.P577L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1087035	c.2178G>T	p.E726D	Substitution - Missense	Endometrium
COSM53011	c.1033G>A	p.A345T	Substitution - Missense	Lung
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49154	c.2068C>T	p.R690C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1205906	c.898T>C	p.C300R	Substitution - Missense	Large_intestine
COSM1716177	c.?	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53009	c.2079T>A	p.N693K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3762469	c.553G>C	p.D185H	Substitution - Missense	Soft_tissue
COSM1716181	c.?	p.V637A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5879077	c.2125G>A	p.G709S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5967124	c.227C>G	p.S76*	Substitution - Nonsense	Salivary_gland
COSM1716180	c.?	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4842304	c.1494G>A	p.K498K	Substitution - coding silent	Cervix
COSM85769	c.?	p.Y646?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144180	c.?	p.E549*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716180	c.?	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4169591	c.?	p.H694R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53007	c.188_189insA	p.R64fs*18	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3366842	c.2030-1G>A	p.?	Unknown	Kidney
COSM5487273	c.2226_2227insAATCCCCTC	p.V742_G743insNPL	Insertion - In frame	Haematopoietic_and_lymphoid_tissue
COSM4413607	c.?_?del?	p.?fs	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52980	c.2069G>A	p.R690H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM744992	c.1657C>G	p.Q553E	Substitution - Missense	Lung
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944127	c.446T>C	p.L149P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4392409	c.46C>T	p.R16W	Substitution - Missense	Prostate
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM485016	c.17A>T	p.K6M	Substitution - Missense	Kidney
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52980	c.2069G>A	p.R690H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1087033	c.2233G>A	p.E745K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1195185	c.1610G>A	p.S537N	Substitution - Missense	Lung
COSM1716177	c.?	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716177	c.?	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53002	c.786_787insC	p.N263fs*8	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5967251	c.?	p.Q328fs*23	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM306072	c.2051G>A	p.R684H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1087033	c.2233G>A	p.E745K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3259628	c.1943G>A	p.G648E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5879085	c.1988A>G	p.Y663C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49149	c.745G>A	p.E249K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52981	c.2078A>C	p.N693T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37030	c.1936T>C	p.Y646H	Substitution - Missense	Bone
COSM49149	c.745G>A	p.E249K	Substitution - Missense	Large_intestine
COSM133043	c.1718C>T	p.T573I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52980	c.2069G>A	p.R690H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144174	c.435C>A	p.F145L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52998	c.1992T>A	p.D664E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716180	c.?	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM220386	c.2045C>G	p.A682G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716032	c.1559A>C	p.N520T	Substitution - Missense	Small_intestine
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5990001	c.1622G>A	p.C541Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53008	c.574G>A	p.D192N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133042	c.2029G>C	p.D677H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5879100	c.878A>G	p.D293G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM220386	c.2045C>G	p.A682G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37030	c.1936T>C	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716184	c.?	p.A682G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133055	c.625+1G>T	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM37032	c.1937A>G	p.Y646C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM275030	c.2173G>A	p.E725K	Substitution - Missense	Large_intestine
COSM320203	c.118A>T	p.S40C	Substitution - Missense	Lung
COSM1738143	c.?	p.H279Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM452565	c.1931C>G	p.S644*	Substitution - Nonsense	Breast
COSM4384246	c.2084C>T	p.S695L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945114	c.1936T>G	p.Y646D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716182	c.?	p.A692V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3259702	c.73C>A	p.R25R	Substitution - coding silent	Upper_aerodigestive_tract
COSM52980	c.2069G>A	p.R690H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716184	c.?	p.A682G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4603617	c.?_?ins?	p.F728fs*?	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716180	c.?	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5989972	c.1852-2A>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM53018	c.1966_1966delG	p.A656fs*19	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5751477	c.77T>C	p.L26P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52980	c.2069G>A	p.R690H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144173	c.387T>A	p.H129Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4384300	c.374A>T	p.E125V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM220529	c.2075C>T	p.A692V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53031	c.965A>G	p.N322S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37030	c.1936T>C	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM250932	c.2024A>G	p.N675S	Substitution - Missense	Liver
COSM3259655	c.1253G>A	p.R418Q	Substitution - Missense	Large_intestine
COSM5487426	c.728+5G>T	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49150	c.2020T>G	p.L674V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945140	c.38T>C	p.V13A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM85769	c.?	p.Y646?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716177	c.?	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133050	c.434T>C	p.F145S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4402186	c.1078A>G	p.R360G	Substitution - Missense	Skin
COSM1685350	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM2270988	c.2175_2175delA	p.E726fs*14	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52996	c.619C>T	p.R207*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52980	c.2069G>A	p.R690H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1087062	c.484G>T	p.E162*	Substitution - Nonsense	Endometrium
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133038	c.2035G>A	p.V679M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3259704	c.47G>A	p.R16Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133043	c.1718C>T	p.T573I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4462538	c.1250C>T	p.S417F	Substitution - Missense	Upper_aerodigestive_tract
COSM1716174	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM53017	c.444_445insGAA	p.E148_L149insE	Insertion - In frame	Haematopoietic_and_lymphoid_tissue
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM744985	c.958C>T	p.L320L	Substitution - coding silent	Lung
COSM4628610	c.193A>G	p.I65V	Substitution - Missense	Large_intestine
COSM5944528	c.2228_2229insCATCG	p.E745fs*>9	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4384292	c.782C>A	p.T261N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685350	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM53041	c.2195+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1716180	c.?	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1000720	c.1969G>C	p.D657H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53025	c.890A>G	p.H297R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144177	c.797G>A	p.G266E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37030	c.1936T>C	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37030	c.1936T>C	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53029	c.1175_1176delAA	p.E392fs*7	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM600057	c.1689G>T	p.P563P	Substitution - coding silent	Urinary_tract
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4384248	c.2048C>T	p.T683I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685350	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1319007	c.2231_2232insTGCAT	p.E745fs*>9	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133041	c.449T>C	p.I150T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3720336	c.1885T>C	p.W629R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1449005	c.804T>C	p.N268N	Substitution - coding silent	Large_intestine
COSM1087064	c.233G>A	p.R78H	Substitution - Missense	Endometrium
COSM5944534	c.168_169insA	p.N57fs*25	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5986616	c.62_63insGCCC	p.E22fs*16	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5169495	c.444A>G	p.E148E	Substitution - coding silent	Large_intestine
COSM37032	c.1937A>G	p.Y646C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133039	c.446T>A	p.L149Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4384261	c.1976G>A	p.R659K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52999	c.2187_2188insT	p.D730fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3259628	c.1943G>A	p.G648E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52982	c.2143_2143delA	p.I715fs*25	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3635748	c.425A>T	p.D142V	Substitution - Missense	Skin
COSM1716901	c.492_493insGT	p.F165fs*3	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52980	c.2069G>A	p.R690H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945129	c.397T>A	p.Y133N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4424163	c.2008T>C	p.F670L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53014	c.1992_1997delTAAATA	p.K665_Y666del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53012	c.754C>G	p.L252V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37030	c.1936T>C	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3832221	c.2168C>T	p.T723I	Substitution - Missense	Breast
COSM3735010	c.?	p.M121I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53041	c.2195+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5879079	c.2029+3_2029+25del23	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM37032	c.1937A>G	p.Y646C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1738144	c.?	p.S605R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4384264	c.1834C>T	p.Q612*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Skin
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52980	c.2069G>A	p.R690H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87277	c.2081A>G	p.H694R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1570294	c.2228_2229insGCCCCG	p.G743_I744insPR	Insertion - In frame	Haematopoietic_and_lymphoid_tissue
COSM4384302	c.338G>A	p.W113*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Skin
COSM275030	c.2173G>A	p.E725K	Substitution - Missense	Large_intestine
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37030	c.1936T>C	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3762469	c.553G>C	p.D185H	Substitution - Missense	Large_intestine
COSM1716177	c.?	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1000723	c.1876G>A	p.V626M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3734907	c.597G>C	p.K199N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1449030	c.552T>C	p.D184D	Substitution - coding silent	Large_intestine
COSM1315850	c.305A>G	p.N102S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53031	c.965A>G	p.N322S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5752104	c.637_638insA	p.R213fs*9	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM122927	c.1613C>T	p.S538L	Substitution - Missense	Skin
COSM744994	c.1667C>G	p.S556*	Substitution - Nonsense	Lung
COSM5506896	c.99A>G	p.R33R	Substitution - coding silent	Biliary_tract
COSM5879102	c.867T>A	p.C289*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4384270	c.1770T>G	p.C590W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133048	c.179G>A	p.W60*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5351723	c.1697G>T	p.R566L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685350	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945133	c.391A>T	p.I131F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM330641	c.?	p.F670C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716182	c.?	p.A692V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583160	c.?	p.T723S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM744990	c.1135G>C	p.E379Q	Substitution - Missense	Lung
COSM1716184	c.?	p.A682G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1087047	c.1201G>T	p.E401*	Substitution - Nonsense	Endometrium
COSM5879091	c.1747C>T	p.R583*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144182	c.?	p.P577L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM306072	c.2051G>A	p.R684H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4682161	c.744C>T	p.T248T	Substitution - coding silent	Large_intestine
COSM3259706	c.36A>G	p.P12P	Substitution - coding silent	Upper_aerodigestive_tract
COSM4384284	c.1154G>C	p.S385T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1000721	c.862C>T	p.R288*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945106	c.2025C>G	p.N675K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37030	c.1936T>C	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133046	c.187C>T	p.R63*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1622513	c.492G>T	p.G164G	Substitution - coding silent	Liver
COSM1699542	c.686C>T	p.S229L	Substitution - Missense	Skin
COSM4682165	c.604G>T	p.D202Y	Substitution - Missense	Large_intestine
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4169589	c.?	p.L240P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133053	c.247-2A>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52980	c.2069G>A	p.R690H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685350	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5020474	c.2110+6T>G	p.?	Unknown	Soft_tissue
COSM52995	c.863G>A	p.R288Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52996	c.619C>T	p.R207*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM52980	c.2069G>A	p.R690H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52980	c.2069G>A	p.R690H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM122927	c.1613C>T	p.S538L	Substitution - Missense	Upper_aerodigestive_tract
COSM5953565	c.145A>G	p.I49V	Substitution - Missense	Oesophagus
COSM5036350	c.2016C>A	p.F672L	Substitution - Missense	Oesophagus
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53021	c.2191T>G	p.Y731D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3413974	c.2000T>C	p.M667T	Substitution - Missense	Stomach
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1087060	c.620G>A	p.R207Q	Substitution - Missense	Endometrium
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716177	c.?	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5751789	c.421C>CT	p.Q141fs*7	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM37030	c.1936T>C	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4384282	c.1355delA	p.Y452fs*11	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5879087	c.1877T>C	p.V626A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52980	c.2069G>A	p.R690H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685350	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM53009	c.2079T>A	p.N693K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52980	c.2069G>A	p.R690H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49154	c.2068C>T	p.R690C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1087049	c.1060C>T	p.R354C	Substitution - Missense	Endometrium
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685350	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4384257	c.1978G>A	p.G660R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1738146	c.1_2256del2256	p.0?	Whole gene deletion	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Parathyroid
COSM4603620	c.?	p.I651F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM132883	c.1991A>C	p.D664A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4169590	c.?	p.V522G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5467064	c.442G>T	p.E148*	Substitution - Nonsense	Large_intestine
COSM37030	c.1936T>C	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52980	c.2069G>A	p.R690H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716184	c.?	p.A682G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4384253	c.2007C>G	p.S669R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3635742	c.1236C>T	p.S412S	Substitution - coding silent	Skin
COSM3778211	c.1547-1G>C	p.?	Unknown	Urinary_tract
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1570295	c.933_933T>GGCATA	p.Y311fs*1	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Skin
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Parathyroid
COSM3762469	c.553G>C	p.D185H	Substitution - Missense	Soft_tissue
COSM85769	c.?	p.Y646?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133045	c.1697G>A	p.R566H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5760546	c.?	p.Y579S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5415179	c.2011C>G	p.L671V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53019	c.1967C>T	p.A656V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49154	c.2068C>T	p.R690C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5020474	c.2110+6T>G	p.?	Unknown	Soft_tissue
COSM133038	c.2035G>A	p.V679M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM330641	c.?	p.F670C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1087041	c.2004C>T	p.C668C	Substitution - coding silent	Endometrium
COSM3879126	c.128G>T	p.S43I	Substitution - Missense	Stomach
COSM53041	c.2195+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Bone
COSM1315851	c.2045C>T	p.A682V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716180	c.?	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Skin
COSM52983	c.2180_2182TGT>GG	p.L727fs*13	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM1488340	c.555C>T	p.D185D	Substitution - coding silent	Stomach
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685350	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5990105	c.2197delT	p.Y733fs*7	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM37030	c.1936T>C	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM306072	c.2051G>A	p.R684H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144178	c.1216_1219delAAAG	p.K406fs*17	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1087033	c.2233G>A	p.E745K	Substitution - Missense	Endometrium
COSM1235018	c.1991A>G	p.D664G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5879081	c.2029+1G>T	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1583053	c.?	p.S380*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5406893	c.275C>T	p.P92L	Substitution - Missense	Skin
COSM5766820	c.1643G>C	p.C548S	Substitution - Missense	Large_intestine
COSM53005	c.2050C>T	p.R684C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3635736	c.1605T>G	p.C535W	Substitution - Missense	Skin
COSM4384246	c.2084C>T	p.S695L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4459237	c.1117C>T	p.P373S	Substitution - Missense	Skin
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4603622	c.?	p.G5R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM957494	c.13G>T	p.G5W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM85769	c.?	p.Y646?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133050	c.434T>C	p.F145S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4605636	c.574G>T	p.D192Y	Substitution - Missense	Upper_aerodigestive_tract
COSM53010	c.2199C>A	p.Y733*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM744998	c.2136G>A	p.R712R	Substitution - coding silent	Lung
COSM1169382	c.?	p.R690H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5590847	c.251C>T	p.S84L	Substitution - Missense	Skin
COSM122929	c.791T>G	p.I264R	Substitution - Missense	Upper_aerodigestive_tract
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1000722	c.1135G>T	p.E379*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5751176	c.937_938insA	p.R313fs*34	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4603619	c.?	p.N693Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5494875	c.1311G>A	p.W437*	Substitution - Nonsense	Biliary_tract
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133043	c.1718C>T	p.T573I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5989730	c.1748G>A	p.R583Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52995	c.863G>A	p.R288Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133038	c.2035G>A	p.V679M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3727494	c.118-2delA	p.?	Unknown	Skin
COSM53006	c.1200_1203delAGAA	p.E401fs*22	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1738142	c.?	p.E379del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM1000723	c.1876G>A	p.V626M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5662046	c.554A>G	p.D185G	Substitution - Missense	Soft_tissue
COSM1716177	c.?	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53041	c.2195+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM250090	c.?	p.Q570fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716176	c.?	p.Y646C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87274	c.1505G>A	p.R502Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53030	c.1774_1777delACTT	p.T592fs*82	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5802052	c.2186_2187insT	p.D730fs*1	Insertion - Frameshift	Breast
COSM1716177	c.?	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144182	c.?	p.P577L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5879095	c.1410+2_1410+3insT	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM220386	c.2045C>G	p.A682G	Substitution - Missense	Bone
COSM52980	c.2069G>A	p.R690H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945116	c.1933G>A	p.E645K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944532	c.2210_2211insTTTCGAA	p.A738fs*>17	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1738141	c.?	p.D664A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1448968	c.2139A>G	p.I713M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1166639	c.2083T>C	p.S695P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133038	c.2035G>A	p.V679M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM122931	c.542A>G	p.Y181C	Substitution - Missense	Upper_aerodigestive_tract
COSM85769	c.?	p.Y646?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945127	c.463G>A	p.G155R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52995	c.863G>A	p.R288Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1087033	c.2233G>A	p.E745K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM85769	c.?	p.Y646?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM132884	c.2152_2153delAA	p.K718fs*12	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52996	c.619C>T	p.R207*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM37030	c.1936T>C	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716177	c.?	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49152	c.703_703G>AA	p.G235fs*11	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM1000724	c.949_950delGA	p.E317fs*29	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3413974	c.2000T>C	p.M667T	Substitution - Missense	Oesophagus
COSM1716177	c.?	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685350	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4424566	c.522G>T	p.L174F	Substitution - Missense	Oesophagus
COSM485014	c.182A>G	p.K61R	Substitution - Missense	Kidney
COSM1315857	c.2232_2233insATC	p.I744_E745insI	Insertion - In frame	Haematopoietic_and_lymphoid_tissue
COSM5575837	c.596A>C	p.K199T	Substitution - Missense	Stomach
COSM957493	c.450_450delA	p.N152fs*15	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3778213	c.1368C>T	p.F456F	Substitution - coding silent	Oesophagus
COSM5608702	c.1504C>T	p.R502W	Substitution - Missense	Skin
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716178	c.?	p.K634E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211539	c.?	p.Y731*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1087033	c.2233G>A	p.E745K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3259673	c.835C>T	p.H279Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3431348	c.1038G>A	p.E346E	Substitution - coding silent	Large_intestine
COSM4682159	c.937C>T	p.R313W	Substitution - Missense	Large_intestine
COSM4384255	c.1981A>G	p.K661E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37030	c.1936T>C	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM330640	c.?	p.S76*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM52999	c.2187_2188insT	p.D730fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53023	c.1712G>A	p.C571Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37033	c.1920T>A	p.N640K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37030	c.1936T>C	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944305	c.2196-1_2198delGATA	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945135	c.386A>G	p.H129R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM235699	c.324_324delC	p.I109fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4774980	c.2188_2189insT	p.D730fs*8	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM85769	c.?	p.Y646?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944530	c.2227_2228insGGT	p.G743_I744insC	Insertion - In frame	Haematopoietic_and_lymphoid_tissue
COSM5976267	c.1230G>A	p.S410S	Substitution - coding silent	Upper_aerodigestive_tract
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3663014	c.728+7A>G	p.?	Unknown	Liver
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4603616	c.?	p.V447D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4169588	c.?	p.S624F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3259661	c.1184delG	p.G395fs*29	Deletion - Frameshift	Large_intestine
COSM23372	c.625+1G>A	p.?	Unknown	Skin
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM306072	c.2051G>A	p.R684H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM250086	c.?	p.L674fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1448993	c.1100G>A	p.S367N	Substitution - Missense	Large_intestine
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3725818	c.729-3C>T	p.?	Unknown	Lung
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37030	c.1936T>C	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1699540	c.1040G>A	p.R347Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1568547	c.849G>A	p.T283T	Substitution - coding silent	Large_intestine
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716177	c.?	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53006	c.1200_1203delAGAA	p.E401fs*22	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716180	c.?	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716178	c.?	p.K634E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4384246	c.2084C>T	p.S695L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716184	c.?	p.A682G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49151	c.1119_1120insC	p.T374fs*3	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4384243	c.2191T>A	p.Y731N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3366844	c.1633C>T	p.Q545*	Substitution - Nonsense	Kidney
COSM4603617	c.?_?ins?	p.F728fs*?	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1087056	c.721A>C	p.K241Q	Substitution - Missense	Endometrium
COSM52999	c.2187_2188insT	p.D730fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM133038	c.2035G>A	p.V679M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5005952	c.1596G>A	p.R532R	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM53016	c.763G>A	p.A255T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5620775	c.347T>C	p.L116P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5879089	c.1768_1769insT	p.C590fs*8	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM49153	c.1983_1983delA	p.V662fs*13	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1087058	c.697G>T	p.D233Y	Substitution - Missense	Endometrium
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1315854	c.1588C>A	p.H530N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53019	c.1967C>T	p.A656V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37032	c.1937A>G	p.Y646C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144175	c.1742C>T	p.A581V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1000723	c.1876G>A	p.V626M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3259695	c.261T>C	p.S87S	Substitution - coding silent	Large_intestine
COSM3635744	c.683C>T	p.S228F	Substitution - Missense	Skin
COSM4155649	c.2111-1G>A	p.?	Unknown	Kidney
COSM1622513	c.492G>T	p.G164G	Substitution - coding silent	Soft_tissue
COSM49157	c.1505+1G>T	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM250088	c.?	p.L727fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1315852	c.1487A>G	p.K496R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37029	c.1937A>C	p.Y646S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Skin
COSM5751635	c.878_879insA	p.D293fs*7	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5024929	c.1139C>G	p.S380*	Substitution - Nonsense	Breast
COSM133052	c.1682G>A	p.R561H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49149	c.745G>A	p.E249K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133050	c.434T>C	p.F145S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53002	c.786_787insC	p.N263fs*8	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM330639	c.?	p.E242*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4603621	c.?_?ins?	p.S21fs*?	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52980	c.2069G>A	p.R690H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716184	c.?	p.A682G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52997	c.1728C>G	p.C576W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49150	c.2020T>G	p.L674V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Skin
COSM250079	c.1477C>T	p.P493S	Substitution - Missense	Oesophagus
COSM250932	c.2024A>G	p.N675S	Substitution - Missense	Liver
COSM280913	c.507A>C	p.E169D	Substitution - Missense	Large_intestine
COSM1738147	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716183	c.?	p.V679M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685350	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5945112	c.1939T>C	p.C647R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87276	c.2018A>G	p.N673S	Substitution - Missense	Stomach
COSM88179	c.1907C>T	p.P636L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1169382	c.?	p.R690H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5351701	c.1945G>T	p.E649*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1716182	c.?	p.A692V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3259626	c.1996T>A	p.Y666N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4168150	c.1672+5G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM53034	c.949G>T	p.E317*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53010	c.2199C>A	p.Y733*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1169382	c.?	p.R690H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5879105	c.312delT	p.A105fs*5	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4682157	c.1608C>A	p.D536E	Substitution - Missense	Large_intestine
COSM49155	c.2025C>A	p.N675K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5762879	c.1087_1088insACGG	p.L363fs*5	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM37032	c.1937A>G	p.Y646C	Substitution - Missense	Salivary_gland
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52980	c.2069G>A	p.R690H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5762877	c.1998C>A	p.Y666*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144181	c.?	p.C606Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945104	c.2191T>C	p.Y731H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133040	c.2110G>C	p.V704L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53027	c.1978G>C	p.G660R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1235018	c.1991A>G	p.D664G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4384294	c.745G>T	p.E249*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5608700	c.924C>A	p.P308P	Substitution - coding silent	Skin
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3635740	c.1291C>T	p.P431S	Substitution - Missense	Skin
COSM1738141	c.?	p.D664A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1738145	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1716176	c.?	p.Y646C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716178	c.?	p.K634E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685350	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5547439	c.1919delA	p.N640fs*35	Deletion - Frameshift	Prostate
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5947360	c.625+10A>C	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3735008	c.?	p.Y523P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1449033	c.451A>C	p.K151Q	Substitution - Missense	Large_intestine
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87277	c.2081A>G	p.H694R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM250079	c.1477C>T	p.P493S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM291561	c.1911G>A	p.V637V	Substitution - coding silent	Large_intestine
COSM96480	c.475G>A	p.G159R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52995	c.863G>A	p.R288Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1087037	c.2085G>A	p.S695S	Substitution - coding silent	Endometrium
COSM85769	c.?	p.Y646?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5879073	c.2195G>T	p.R732I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4682163	c.667A>T	p.I223F	Substitution - Missense	Large_intestine
COSM5945121	c.1702A>G	p.K568E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37030	c.1936T>C	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37030	c.1936T>C	p.Y646H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53036	c.184C>T	p.Q62*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4384257	c.1978G>A	p.G660R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4984825	c.?	p.R213H	Substitution - Missense	Lung
COSM5751758	c.1582_1583insA	p.C528fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53006	c.1200_1203delAGAA	p.E401fs*22	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1087043	c.1634A>C	p.Q545P	Substitution - Missense	Endometrium
COSM1716179	c.?	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716176	c.?	p.Y646C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53005	c.2050C>T	p.R684C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37028	c.1937A>T	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716901	c.492_493insGT	p.F165fs*3	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53031	c.965A>G	p.N322S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1699540	c.1040G>A	p.R347Q	Substitution - Missense	Skin
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716175	c.?	p.Y646F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM306072	c.2051G>A	p.R684H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM37031	c.1936T>A	p.Y646N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM85769	c.?	p.Y646?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144176	c.1672+2_1673+3insCCT	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM37032	c.1937A>G	p.Y646C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue

> Text Mining based Variations

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PMID	Variation	Cancer	Evidence
28688466	mutation	Essential Thrombocythemia	For essential thrombocythemia, reported risk factors for leukemic transformation include advanced age, extreme thrombocytosis, anemia, leukocytosis, and sequence variants/mutations involving TP53 and EZH2 (for expansion of gene symbols, see www.genenames.org); for polycythemia vera, advanced age, leukocytosis, abnormal karyotype, mutations involving SRSF2 and IDH2, and treatment with pipobroman, chlorambucil, or P32; and for PMF, increased blast percentage, thrombocytopenia, abnormal karyotype, triple-negative driver mutational status, and sequence variants/mutations involving SRSF2, RUNX1, CEBPA, and SH2B3.
28677265	mutation	Myeloproliferative Neoplasm	Currently known MPN-associated mutations now include JAK2, MPL, LNK, CBL, CALR, TET2, ASXL1, IDH1, IDH2, IKZF1 and EZH2.
28626218	mutation	Myelodysplastic Syndrome; Myeloproliferative Neoplasm	Mutations in the epigenetic regulator gene EZH2 are frequently observed in patients with myelodysplastic/myeloproliferative neoplasms (MDS/MPN; 10-13%) and are associated with a poor outcome.
28430172	mutation (gain of function)	Follicular Lymphoma	Recurrent gain-of-function mutations in EZH2 have been described in 25% of FL patients and induce aberrant methylation of histone H3 lysine 27 (H3K27).
28394193	mutation	Lymphoma; Myelodysplastic Syndrome; Myeloproliferative Neoplasm	EZH2 somatic mutations and deletions was found in lymphomas, myelodysplastic and myeloproliferative disorders and associated with higher H3K27me3 levels.
28106467	mutation	Follicular Lymphoma	Recurrent mutations of histone modifiers KMT2D, CREBBP, EP300, EZH2, ARIDIA, and linker histones are likely early events arising in the CPC pool, rendering epigenetic based therapies conceptually attractive for treatment of indolent and transformed FL.
27983727	mutation	Acute Myeloid Leukemia	Overall, mutations in FLT3, DNMT3A, NPM1 and IDH2 were more specific for pAML whereas UTAF1, STAG2, BCORL1, BCOR, EZH2, JAK2, CBL, PRPF8, SF3B1, ASXL1 and DHX29 were more specific for sAML.
27169594	mutation (loss of function)	Acute lymphoblastic leukemia	Loss-of-function EZH2 mutations were detected in 2/152 (1.3%) patients with common-ALL and early T-cell precursor (ETP)-ALL, respectively.

Summary
Symbol	EZH2
Name	enhancer of zeste 2 polycomb repressive complex 2 subunit
Aliases	ENX-1; KMT6; KMT6A; enhancer of zeste (Drosophila) homolog 2; enhancer of zeste homolog 2 (Drosophila); ENX1 ......
Location	7q36.1
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)

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Filter By:

Uniprot ID	Position	Amino Acid	Description	Upstream Enzyme	Affected By Mutation	Amino Acid Sequence Variant
Q15910	76	S	Phosphoserine	-	No	None detected
Q15910	339	T	Phosphothreonine	-	No	None detected
Q15910	345	T	Phosphothreonine	CDK1 and CDK2	No	None detected
Q15910	363	S	Phosphoserine	-	No	None detected
Q15910	366	S	Phosphoserine	-	No	None detected
Q15910	367	T	Phosphothreonine	-	No	None detected
Q15910	487	T	Phosphothreonine	-	No	None detected

Summary
Symbol	EZH2
Name	enhancer of zeste 2 polycomb repressive complex 2 subunit
Aliases	ENX-1; KMT6; KMT6A; enhancer of zeste (Drosophila) homolog 2; enhancer of zeste homolog 2 (Drosophila); ENX1 ......
Location	7q36.1
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)

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Differential expression analysis for cancers with more than 10 normal samples

Cancer	Full Name	# N	# T	Median (N)	Median (T)	LogFC	Adj. P	Status
BLCA	Bladder urothelial carcinoma	19	408	2.327	4.61	2.34	5.09e-20	Over
BRCA	Breast invasive carcinoma	112	1100	2.06	4.344	2.359	2.8e-106	Over
CESC	Cervical and endocervical cancers	3	306	1.053	5.717	NA	NA	NA
COAD	Colon adenocarcinoma	41	459	3.846	5.099	1.292	2.68e-36	Over
ESCA	Esophageal carcinoma	11	185	2.218	4.593	2.104	6.2e-15	Over
GBM	Glioblastoma multiforme	5	166	0.067	4.933	NA	NA	NA
HNSC	Head and Neck squamous cell carcinoma	44	522	4.088	4.438	0.846	4.58e-09	Over
KIRC	Kidney renal clear cell carcinoma	72	534	0.614	2.68	2.029	7.43e-73	Over
KIRP	Kidney renal papillary cell carcinoma	32	291	0.462	2.683	2.197	4.67e-36	Over
LAML	Acute Myeloid Leukemia	0	173	NA	5.927	NA	NA	NA
LGG	Brain Lower Grade Glioma	0	530	NA	3.572	NA	NA	NA
LIHC	Liver hepatocellular carcinoma	50	373	0.469	3.056	2.569	4.77e-44	Over
LUAD	Lung adenocarcinoma	59	517	1.368	4.002	2.589	1.05e-61	Over
LUSC	Lung squamous cell carcinoma	51	501	1.604	4.976	3.254	2.66e-93	Over
OV	Ovarian serous cystadenocarcinoma	0	307	NA	4.663	NA	NA	NA
PAAD	Pancreatic adenocarcinoma	4	179	2.88	3.311	NA	NA	NA
PCPG	Pheochromocytoma and Paraganglioma	3	184	1.45	1.677	NA	NA	NA
PRAD	Prostate adenocarcinoma	52	498	0.829	2.557	1.707	2.74e-36	Over
READ	Rectum adenocarcinoma	10	167	3.939	5.097	1.14	1.32e-07	Over
SARC	Sarcoma	2	263	1.399	4.346	NA	NA	NA
SKCM	Skin Cutaneous Melanoma	1	472	4.786	4.468	NA	NA	NA
STAD	Stomach adenocarcinoma	35	415	3.369	4.659	1.989	3.55e-24	Over
TGCT	Testicular Germ Cell Tumors	0	156	NA	5.54	NA	NA	NA
THCA	Thyroid carcinoma	59	509	0.322	2.006	1.125	3.72e-16	Over
THYM	Thymoma	2	120	5.945	6.052	NA	NA	NA
UCEC	Uterine Corpus Endometrial Carcinoma	35	546	1.592	4.46	2.932	9.21e-67	Over

> Cancer Cell Line Encyclopedia (CCLE)

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Tissue	Cell Line	Expression Level (Microarray)
Autonomic ganglia	CHP126	10.7
Autonomic ganglia	CHP212	9.9
Autonomic ganglia	IMR32	10.7
Autonomic ganglia	KELLY	11.2
Autonomic ganglia	KPNRTBM1	10.1
Autonomic ganglia	KPNSI9S	9.5
Autonomic ganglia	KPNYN	10.3
Autonomic ganglia	MHHNB11	10.6
Autonomic ganglia	NB1	10.7
Autonomic ganglia	NH6	10.7
Autonomic ganglia	SHSY5Y	10.2
Autonomic ganglia	SIMA	9.2
Autonomic ganglia	SKNAS	9.8
Autonomic ganglia	SKNBE2	10.5
Autonomic ganglia	SKNDZ	11
Autonomic ganglia	SKNFI	10.3
Autonomic ganglia	SKNSH	9.9
Biliary tract	HUCCT1	9.3
Biliary tract	HUH28	9.3
Biliary tract	SNU1079	9.1
Biliary tract	SNU1196	10.1
Biliary tract	SNU245	9.8
Biliary tract	SNU308	10.3
Biliary tract	SNU478	9.9
Bone	143B	9.8
Bone	A673	10.9
Bone	CADOES1	10.7
Bone	CAL78	9.8
Bone	G292CLONEA141B1	9
Bone	HOS	9.4
Bone	HS706T	8.8
Bone	HS737T	6.5
Bone	HS819T	6.8
Bone	HS821T	7.2
Bone	HS822T	6.4
Bone	HS863T	8.1
Bone	HS870T	9
Bone	HS888T	8.5
Bone	MG63	9.5
Bone	MHHES1	11
Bone	OUMS27	9
Bone	RDES	11.5
Bone	SJSA1	9.8
Bone	SKES1	12.1
Bone	SKNMC	11.5
Bone	SW1353	9.4
Bone	T173	8.1
Bone	TC71	10.6
Bone	U2OS	9.1
Breast	AU565	9.7
Breast	BT20	9.6
Breast	BT474	10.4
Breast	BT483	9.6
Breast	BT549	10.1
Breast	CAL120	9.4
Breast	CAL148	10.8
Breast	CAL51	10.4
Breast	CAL851	9.3
Breast	CAMA1	10.9
Breast	DU4475	10.9
Breast	EFM192A	10.3
Breast	EFM19	9.6
Breast	EVSAT	10.1
Breast	HCC1143	9.8
Breast	HCC1187	11.1
Breast	HCC1395	11.5
Breast	HCC1419	8.5
Breast	HCC1428	9.9
Breast	HCC1500	9.9
Breast	HCC1569	10.8
Breast	HCC1599	10.5
Breast	HCC1806	7.7
Breast	HCC1937	9.1
Breast	HCC1954	9.6
Breast	HCC202	10.7
Breast	HCC2157	9.5
Breast	HCC2218	9.6
Breast	HCC38	9.2
Breast	HCC70	10.6
Breast	HDQP1	9.9
Breast	HMC18	9.5
Breast	HS274T	8.3
Breast	HS281T	8.1
Breast	HS343T	8.5
Breast	HS578T	7.9
Breast	HS606T	7.5
Breast	HS739T	7.6
Breast	HS742T	5.4
Breast	JIMT1	9
Breast	KPL1	10.1
Breast	MCF7	9.8
Breast	MDAMB134VI	10
Breast	MDAMB157	10.4
Breast	MDAMB175VII	8.9
Breast	MDAMB231	10.4
Breast	MDAMB361	9.6
Breast	MDAMB415	8.9
Breast	MDAMB436	10.2
Breast	MDAMB453	9.7
Breast	MDAMB468	10.6
Breast	SKBR3	9.7
Breast	T47D	9.2
Breast	UACC812	9.5
Breast	UACC893	9
Breast	YMB1	9.5
Breast	ZR751	9.8
Breast	ZR7530	9.1
Central nervous system	1321N1	10.4
Central nervous system	42MGBA	8.5
Central nervous system	8MGBA	9.4
Central nervous system	A172	9.2
Central nervous system	AM38	10.2
Central nervous system	BECKER	10
Central nervous system	CAS1	9.4
Central nervous system	CCFSTTG1	10.8
Central nervous system	D283MED	9.9
Central nervous system	D341MED	8.9
Central nervous system	DAOY	10.8
Central nervous system	DBTRG05MG	9.3
Central nervous system	DKMG	8.3
Central nervous system	GAMG	9.9
Central nervous system	GB1	10.7
Central nervous system	GI1	10
Central nervous system	GMS10	8.8
Central nervous system	GOS3	9.4
Central nervous system	H4	9.6
Central nervous system	HS683	10.1
Central nervous system	KALS1	9.8
Central nervous system	KG1C	8.7
Central nervous system	KNS42	9
Central nervous system	KNS60	9.2
Central nervous system	KNS81	9.9
Central nervous system	KS1	9.5
Central nervous system	LN18	10.2
Central nervous system	LN229	10.4
Central nervous system	M059K	9.1
Central nervous system	MOGGCCM	9.9
Central nervous system	MOGGUVW	9.3
Central nervous system	NMCG1	10.2
Central nervous system	ONS76	9.9
Central nervous system	SF126	8.9
Central nervous system	SF295	10
Central nervous system	SNB19	10.3
Central nervous system	SNU1105	9.3
Central nervous system	SNU201	8.9
Central nervous system	SNU466	9.2
Central nervous system	SNU489	8.7
Central nervous system	SNU626	10.4
Central nervous system	SNU738	8
Central nervous system	SW1088	10.1
Central nervous system	SW1783	9.8
Central nervous system	T98G	9.7
Central nervous system	TM31	8.1
Central nervous system	U118MG	9.3
Central nervous system	U138MG	9.4
Central nervous system	U251MG	9.6
Central nervous system	U87MG	9.5
Central nervous system	YH13	9.7
Central nervous system	YKG1	9.7
Endometrium	AN3CA	10.3
Endometrium	COLO684	10.8
Endometrium	EFE184	8.7
Endometrium	EN	9.6
Endometrium	ESS1	9.6
Endometrium	HEC108	9.7
Endometrium	HEC151	10.1
Endometrium	HEC1A	9.6
Endometrium	HEC1B	10
Endometrium	HEC251	10.6
Endometrium	HEC265	9.6
Endometrium	HEC50B	10
Endometrium	HEC59	9.4
Endometrium	HEC6	9.7
Endometrium	ISHIKAWAHERAKLIO02ER	9.5
Endometrium	JHUEM1	8.4
Endometrium	JHUEM2	10
Endometrium	JHUEM3	9.9
Endometrium	KLE	9
Endometrium	MFE280	9.4
Endometrium	MFE296	9.5
Endometrium	MFE319	9.3
Endometrium	RL952	9.1
Endometrium	SNGM	8.7
Endometrium	SNU1077	8.5
Endometrium	SNU685	9.5
Endometrium	TEN	9.8
Haematopoietic and lymphoid	697	11.2
Haematopoietic and lymphoid	A3KAW	10.5
Haematopoietic and lymphoid	A4FUK	11.1
Haematopoietic and lymphoid	ALLSIL	11.2
Haematopoietic and lymphoid	AML193	10.5
Haematopoietic and lymphoid	AMO1	10.9
Haematopoietic and lymphoid	BCP1	10.3
Haematopoietic and lymphoid	BDCM	9.4
Haematopoietic and lymphoid	BL41	11.4
Haematopoietic and lymphoid	BL70	11.9
Haematopoietic and lymphoid	BV173	10.7
Haematopoietic and lymphoid	CA46	10.6
Haematopoietic and lymphoid	CI1	10.9
Haematopoietic and lymphoid	CMK115	10.2
Haematopoietic and lymphoid	CMK86	10.6
Haematopoietic and lymphoid	CMK	9.9
Haematopoietic and lymphoid	CMLT1	10.8
Haematopoietic and lymphoid	COLO775	10.5
Haematopoietic and lymphoid	DAUDI	11
Haematopoietic and lymphoid	DB	10.6
Haematopoietic and lymphoid	DEL	10.3
Haematopoietic and lymphoid	DND41	11.2
Haematopoietic and lymphoid	DOHH2	11.3
Haematopoietic and lymphoid	EB1	10.7
Haematopoietic and lymphoid	EB2	10.5
Haematopoietic and lymphoid	EHEB	9.8
Haematopoietic and lymphoid	EJM	10.6
Haematopoietic and lymphoid	EM2	10
Haematopoietic and lymphoid	EOL1	10.3
Haematopoietic and lymphoid	F36P	10.6
Haematopoietic and lymphoid	GA10	10.8
Haematopoietic and lymphoid	GDM1	9.7
Haematopoietic and lymphoid	GRANTA519	10.3
Haematopoietic and lymphoid	HDLM2	11.2
Haematopoietic and lymphoid	HDMYZ	9.5
Haematopoietic and lymphoid	HEL9217	9.6
Haematopoietic and lymphoid	HEL	9.4
Haematopoietic and lymphoid	HH	12
Haematopoietic and lymphoid	HL60	10.5
Haematopoietic and lymphoid	HPBALL	11.5
Haematopoietic and lymphoid	HS604T	6.8
Haematopoietic and lymphoid	HS611T	10.2
Haematopoietic and lymphoid	HS616T	6.7
Haematopoietic and lymphoid	HS751T	7.8
Haematopoietic and lymphoid	HT	10.6
Haematopoietic and lymphoid	HTK	9.7
Haematopoietic and lymphoid	HUNS1	9.4
Haematopoietic and lymphoid	HUT102	10.4
Haematopoietic and lymphoid	HUT78	11
Haematopoietic and lymphoid	JEKO1	10.5
Haematopoietic and lymphoid	JK1	9.8
Haematopoietic and lymphoid	JM1	11.7
Haematopoietic and lymphoid	JURKAT	11.3
Haematopoietic and lymphoid	JURLMK1	9.2
Haematopoietic and lymphoid	JVM2	8.5
Haematopoietic and lymphoid	JVM3	9.5
Haematopoietic and lymphoid	K562	11.2
Haematopoietic and lymphoid	KARPAS299	10
Haematopoietic and lymphoid	KARPAS422	10.3
Haematopoietic and lymphoid	KARPAS620	10.7
Haematopoietic and lymphoid	KASUMI1	10.4
Haematopoietic and lymphoid	KASUMI2	11.7
Haematopoietic and lymphoid	KASUMI6	9.7
Haematopoietic and lymphoid	KCL22	10.4
Haematopoietic and lymphoid	KE37	11.6
Haematopoietic and lymphoid	KE97	10
Haematopoietic and lymphoid	KG1	9.2
Haematopoietic and lymphoid	KHM1B	10
Haematopoietic and lymphoid	KIJK	10.6
Haematopoietic and lymphoid	KMH2	11.8
Haematopoietic and lymphoid	KMM1	10
Haematopoietic and lymphoid	KMS11	11.1
Haematopoietic and lymphoid	KMS12BM	10.6
Haematopoietic and lymphoid	KMS18	9.5
Haematopoietic and lymphoid	KMS20	10.3
Haematopoietic and lymphoid	KMS21BM	10
Haematopoietic and lymphoid	KMS26	10.5
Haematopoietic and lymphoid	KMS27	10.6
Haematopoietic and lymphoid	KMS28BM	10.8
Haematopoietic and lymphoid	KMS34	10.9
Haematopoietic and lymphoid	KO52	9.1
Haematopoietic and lymphoid	KOPN8	10.3
Haematopoietic and lymphoid	KU812	10.7
Haematopoietic and lymphoid	KYO1	8.4
Haematopoietic and lymphoid	L1236	9.7
Haematopoietic and lymphoid	L363	10.9
Haematopoietic and lymphoid	L428	11.5
Haematopoietic and lymphoid	L540	10.7
Haematopoietic and lymphoid	LAMA84	10
Haematopoietic and lymphoid	LOUCY	3.5
Haematopoietic and lymphoid	LP1	8.6
Haematopoietic and lymphoid	M07E	10.7
Haematopoietic and lymphoid	MC116	11
Haematopoietic and lymphoid	ME1	9.2
Haematopoietic and lymphoid	MEC1	10.6
Haematopoietic and lymphoid	MEC2	10.3
Haematopoietic and lymphoid	MEG01	9.9
Haematopoietic and lymphoid	MHHCALL2	11
Haematopoietic and lymphoid	MHHCALL3	11.3
Haematopoietic and lymphoid	MHHCALL4	11
Haematopoietic and lymphoid	MINO	11.3
Haematopoietic and lymphoid	MJ	11.8
Haematopoietic and lymphoid	MM1S	11.1
Haematopoietic and lymphoid	MOLM13	10.1
Haematopoietic and lymphoid	MOLM16	10.7
Haematopoietic and lymphoid	MOLM6	9.6
Haematopoietic and lymphoid	MOLP2	8.7
Haematopoietic and lymphoid	MOLP8	9.6
Haematopoietic and lymphoid	MOLT13	11.4
Haematopoietic and lymphoid	MOLT16	10.6
Haematopoietic and lymphoid	MOLT4	11.3
Haematopoietic and lymphoid	MONOMAC1	10
Haematopoietic and lymphoid	MONOMAC6	10.4
Haematopoietic and lymphoid	MOTN1	11.2
Haematopoietic and lymphoid	MUTZ5	10.6
Haematopoietic and lymphoid	MV411	10.5
Haematopoietic and lymphoid	NALM19	10.7
Haematopoietic and lymphoid	NALM1	10.9
Haematopoietic and lymphoid	NALM6	11.4
Haematopoietic and lymphoid	NAMALWA	11
Haematopoietic and lymphoid	NB4	11.1
Haematopoietic and lymphoid	NCIH929	9.7
Haematopoietic and lymphoid	NCO2	10.3
Haematopoietic and lymphoid	NOMO1	8.4
Haematopoietic and lymphoid	NUDHL1	9.7
Haematopoietic and lymphoid	NUDUL1	10.7
Haematopoietic and lymphoid	OCIAML2	9.9
Haematopoietic and lymphoid	OCIAML3	9.7
Haematopoietic and lymphoid	OCIAML5	10.1
Haematopoietic and lymphoid	OCILY10	11.1
Haematopoietic and lymphoid	OCILY19	10.8
Haematopoietic and lymphoid	OCILY3	11.4
Haematopoietic and lymphoid	OCIM1	9.9
Haematopoietic and lymphoid	OPM2	10.6
Haematopoietic and lymphoid	P12ICHIKAWA	11.3
Haematopoietic and lymphoid	P31FUJ	9.3
Haematopoietic and lymphoid	P3HR1	10.8
Haematopoietic and lymphoid	PCM6	9.7
Haematopoietic and lymphoid	PEER	11.4
Haematopoietic and lymphoid	PF382	11.7
Haematopoietic and lymphoid	PFEIFFER	10.8
Haematopoietic and lymphoid	PL21	10.3
Haematopoietic and lymphoid	RAJI	10.6
Haematopoietic and lymphoid	RCHACV	10.6
Haematopoietic and lymphoid	REC1	10.2
Haematopoietic and lymphoid	REH	11.3
Haematopoietic and lymphoid	RI1	11.3
Haematopoietic and lymphoid	RL	11
Haematopoietic and lymphoid	RPMI8226	10.4
Haematopoietic and lymphoid	RPMI8402	10.7
Haematopoietic and lymphoid	RS411	11
Haematopoietic and lymphoid	SEM	10.9
Haematopoietic and lymphoid	SET2	9.3
Haematopoietic and lymphoid	SIGM5	10.4
Haematopoietic and lymphoid	SKM1	9.4
Haematopoietic and lymphoid	SKMM2	10.7
Haematopoietic and lymphoid	SR786	10.3
Haematopoietic and lymphoid	ST486	11.2
Haematopoietic and lymphoid	SUDHL10	11.2
Haematopoietic and lymphoid	SUDHL1	9.8
Haematopoietic and lymphoid	SUDHL4	11
Haematopoietic and lymphoid	SUDHL5	11
Haematopoietic and lymphoid	SUDHL6	11
Haematopoietic and lymphoid	SUDHL8	11.8
Haematopoietic and lymphoid	SUPB15	10.8
Haematopoietic and lymphoid	SUPHD1	10.6
Haematopoietic and lymphoid	SUPM2	10.2
Haematopoietic and lymphoid	SUPT11	10.9
Haematopoietic and lymphoid	SUPT1	11.9
Haematopoietic and lymphoid	TALL1	11.1
Haematopoietic and lymphoid	TF1	9
Haematopoietic and lymphoid	THP1	10
Haematopoietic and lymphoid	TO175T	8.8
Haematopoietic and lymphoid	TOLEDO	11.1
Haematopoietic and lymphoid	U266B1	10.4
Haematopoietic and lymphoid	U937	10
Haematopoietic and lymphoid	UT7	9.1
Haematopoietic and lymphoid	WSUDLCL2	10.7
Kidney	769P	9.6
Kidney	786O	10.4
Kidney	A498	9.2
Kidney	A704	9.6
Kidney	ACHN	10.3
Kidney	BFTC909	9.5
Kidney	CAKI1	9
Kidney	CAKI2	9.3
Kidney	CAL54	8.8
Kidney	KMRC1	9.3
Kidney	KMRC20	10.4
Kidney	KMRC2	9.3
Kidney	KMRC3	7.5
Kidney	OSRC2	9.5
Kidney	RCC10RGB	9.3
Kidney	SNU1272	9.1
Kidney	SNU349	8.3
Kidney	TUHR10TKB	10.3
Kidney	TUHR14TKB	9.1
Kidney	TUHR4TKB	9.2
Kidney	VMRCRCW	8.1
Kidney	VMRCRCZ	9.6
Large intestine	C2BBE1	9.9
Large intestine	CCK81	10.7
Large intestine	CL11	10.7
Large intestine	CL14	8.9
Large intestine	CL34	9.8
Large intestine	CL40	8.7
Large intestine	COLO205	10.3
Large intestine	COLO320	10.4
Large intestine	COLO678	10.4
Large intestine	CW2	9.7
Large intestine	DLD1	9.5
Large intestine	GP2D	9.9
Large intestine	HCC56	9.9
Large intestine	HCT116	10.2
Large intestine	HCT15	10.1
Large intestine	HS675T	7.7
Large intestine	HS698T	8.3
Large intestine	HT115	9.8
Large intestine	HT29	10.2
Large intestine	HT55	9.4
Large intestine	KM12	10.4
Large intestine	LOVO	10.5
Large intestine	LS1034	10
Large intestine	LS123	9.4
Large intestine	LS180	9.9
Large intestine	LS411N	9.7
Large intestine	LS513	9.7
Large intestine	MDST8	9.2
Large intestine	NCIH508	9.4
Large intestine	NCIH716	10.4
Large intestine	NCIH747	10.3
Large intestine	OUMS23	8.6
Large intestine	RCM1	9.4
Large intestine	RKO	10.8
Large intestine	SKCO1	10.7
Large intestine	SNU1040	9.3
Large intestine	SNU1197	9.9
Large intestine	SNU175	10.9
Large intestine	SNU283	9.9
Large intestine	SNU407	10.1
Large intestine	SNU503	9.3
Large intestine	SNU61	10
Large intestine	SNU81	10.5
Large intestine	SNUC1	9.9
Large intestine	SNUC2A	9.1
Large intestine	SNUC4	9.7
Large intestine	SNUC5	9.7
Large intestine	SW1116	10.3
Large intestine	SW1417	10.6
Large intestine	SW1463	9.9
Large intestine	SW403	10
Large intestine	SW480	10.1
Large intestine	SW48	10.5
Large intestine	SW620	10.8
Large intestine	SW837	9.8
Large intestine	SW948	9.8
Large intestine	T84	9.8
Liver	ALEXANDERCELLS	10.1
Liver	C3A	9.3
Liver	HEP3B217	10
Liver	HEPG2	8.9
Liver	HLE	9.2
Liver	HLF	9.7
Liver	HUH1	9.7
Liver	HUH6	10.3
Liver	HUH7	10
Liver	JHH1	9.5
Liver	JHH2	9.6
Liver	JHH4	9.8
Liver	JHH5	9.8
Liver	JHH6	9.4
Liver	JHH7	10.3
Liver	LI7	9.4
Liver	PLCPRF5	9.9
Liver	SKHEP1	9.5
Liver	SNU182	8.8
Liver	SNU387	9.4
Liver	SNU398	10.7
Liver	SNU423	9.8
Liver	SNU449	9.9
Liver	SNU475	9.6
Liver	SNU761	8.3
Liver	SNU878	9.4
Liver	SNU886	10.3
Lung	A549	8.8
Lung	ABC1	9.3
Lung	BEN	9.1
Lung	CAL12T	8.7
Lung	CALU1	9.7
Lung	CALU3	9.6
Lung	CALU6	9.5
Lung	CHAGOK1	10.1
Lung	COLO668	10.5
Lung	COLO699	10.2
Lung	CORL105	9.8
Lung	CORL23	8.8
Lung	CORL24	10.3
Lung	CORL279	10.5
Lung	CORL311	9.8
Lung	CORL47	11
Lung	CORL51	10.5
Lung	CORL88	10.6
Lung	CORL95	10.4
Lung	CPCN	10.9
Lung	DMS114	10.2
Lung	DMS153	10.8
Lung	DMS273	10
Lung	DMS454	9.8
Lung	DMS53	9.6
Lung	DMS79	10.6
Lung	DV90	9.9
Lung	EBC1	9.9
Lung	EPLC272H	8.8
Lung	HARA	10.3
Lung	HCC1171	9.7
Lung	HCC1195	9.2
Lung	HCC15	9.7
Lung	HCC2279	8.4
Lung	HCC2935	9.8
Lung	HCC33	11
Lung	HCC366	9.6
Lung	HCC4006	8.8
Lung	HCC44	9.3
Lung	HCC78	9.4
Lung	HCC827	9.8
Lung	HCC95	9.8
Lung	HLC1	9.6
Lung	HLFA	7.8
Lung	HS229T	9.7
Lung	HS618T	8.5
Lung	IALM	9.1
Lung	KNS62	7.7
Lung	LC1F	9.7
Lung	LC1SQSF	9
Lung	LCLC103H	8.8
Lung	LCLC97TM1	10.2
Lung	LK2	10.3
Lung	LOUNH91	9.8
Lung	LU65	10.2
Lung	LU99	8.7
Lung	LUDLU1	10.1
Lung	LXF289	8.9
Lung	MORCPR	10
Lung	NCIH1048	10.8
Lung	NCIH1092	10.8
Lung	NCIH1105	11.1
Lung	NCIH1155	10.2
Lung	NCIH1184	11.3
Lung	NCIH1299	10.5
Lung	NCIH1339	8.8
Lung	NCIH1341	10.5
Lung	NCIH1355	9.6
Lung	NCIH1373	10.1
Lung	NCIH1385	9.1
Lung	NCIH1395	8.7
Lung	NCIH1435	9.9
Lung	NCIH1436	10.9
Lung	NCIH1437	9.5
Lung	NCIH146	10.3
Lung	NCIH1563	7.6
Lung	NCIH1568	9.3
Lung	NCIH1573	8.6
Lung	NCIH1581	10.2
Lung	NCIH1618	10.5
Lung	NCIH1623	10.4
Lung	NCIH1648	9.4
Lung	NCIH1650	9.2
Lung	NCIH1651	9.9
Lung	NCIH1666	8.6
Lung	NCIH1693	8.7
Lung	NCIH1694	11
Lung	NCIH1703	9.5
Lung	NCIH1734	10.5
Lung	NCIH1755	10.3
Lung	NCIH1781	10.3
Lung	NCIH1792	9.7
Lung	NCIH1793	9
Lung	NCIH1836	10.5
Lung	NCIH1838	8.9
Lung	NCIH1869	10.2
Lung	NCIH1876	10.5
Lung	NCIH1915	10.6
Lung	NCIH1930	10.9
Lung	NCIH1944	9.9
Lung	NCIH1963	10.5
Lung	NCIH196	9.9
Lung	NCIH1975	9.6
Lung	NCIH2009	10.3
Lung	NCIH2023	9.7
Lung	NCIH2029	10.9
Lung	NCIH2030	8.6
Lung	NCIH2066	9.8
Lung	NCIH2081	10.8
Lung	NCIH2085	11.4
Lung	NCIH2087	9.9
Lung	NCIH209	11.1
Lung	NCIH2106	10.8
Lung	NCIH2110	10.1
Lung	NCIH211	9.8
Lung	NCIH2122	8.7
Lung	NCIH2126	9.2
Lung	NCIH2141	11.2
Lung	NCIH2170	10.1
Lung	NCIH2171	11
Lung	NCIH2172	8.9
Lung	NCIH2196	10.3
Lung	NCIH2227	10.7
Lung	NCIH2228	9.7
Lung	NCIH226	9.5
Lung	NCIH2286	10
Lung	NCIH2291	10.1
Lung	NCIH2342	10.2
Lung	NCIH2347	10
Lung	NCIH23	10.4
Lung	NCIH2405	9.9
Lung	NCIH2444	10
Lung	NCIH292	9.1
Lung	NCIH322	8.4
Lung	NCIH3255	10.1
Lung	NCIH358	9.9
Lung	NCIH441	10.4
Lung	NCIH446	9.8
Lung	NCIH460	9.7
Lung	NCIH510	9.6
Lung	NCIH520	9.5
Lung	NCIH522	10
Lung	NCIH524	9.9
Lung	NCIH526	11.2
Lung	NCIH596	9
Lung	NCIH647	9.5
Lung	NCIH650	8.5
Lung	NCIH661	9.9
Lung	NCIH69	11.8
Lung	NCIH727	9.8
Lung	NCIH810	9.8
Lung	NCIH82	11.2
Lung	NCIH838	9.7
Lung	NCIH841	10.3
Lung	NCIH854	8.5
Lung	NCIH889	10.3
Lung	PC14	9.4
Lung	RERFLCAD1	10.1
Lung	RERFLCAD2	9.2
Lung	RERFLCAI	10.3
Lung	RERFLCKJ	9.3
Lung	RERFLCMS	9.4
Lung	RERFLCSQ1	8.4
Lung	SBC5	10.5
Lung	SCLC21H	11.3
Lung	SHP77	10.1
Lung	SKLU1	10.7
Lung	SKMES1	8.5
Lung	SQ1	9.2
Lung	SW1271	9.9
Lung	SW1573	9.6
Lung	SW900	9.6
Lung	VMRCLCD	9.9
Lung	VMRCLCP	9
Oesophagus	COLO680N	7.8
Oesophagus	ECGI10	7.3
Oesophagus	KYSE140	9.5
Oesophagus	KYSE150	8.6
Oesophagus	KYSE180	9.3
Oesophagus	KYSE270	8.6
Oesophagus	KYSE30	7.8
Oesophagus	KYSE410	9.6
Oesophagus	KYSE450	9.6
Oesophagus	KYSE510	9.4
Oesophagus	KYSE520	9
Oesophagus	KYSE70	8.2
Oesophagus	OE19	9.2
Oesophagus	OE33	9.2
Oesophagus	TE10	10.1
Oesophagus	TE11	9.3
Oesophagus	TE14	8.8
Oesophagus	TE15	9.8
Oesophagus	TE1	9.7
Oesophagus	TE4	8.6
Oesophagus	TE5	8.9
Oesophagus	TE6	8.9
Oesophagus	TE8	9.7
Oesophagus	TE9	8.6
Oesophagus	TT	9
Ovary	59M	7.7
Ovary	A2780	10.2
Ovary	CAOV3	9.9
Ovary	CAOV4	9.4
Ovary	COLO704	10.9
Ovary	COV318	10.2
Ovary	COV362	10.1
Ovary	COV434	9.4
Ovary	COV504	10
Ovary	COV644	9.7
Ovary	EFO21	10
Ovary	EFO27	9.7
Ovary	ES2	9.7
Ovary	FUOV1	9.9
Ovary	HEYA8	8.2
Ovary	HS571T	6.5
Ovary	IGROV1	9.5
Ovary	JHOC5	9.4
Ovary	JHOM1	7.5
Ovary	JHOM2B	10.6
Ovary	JHOS2	9.7
Ovary	JHOS4	10.1
Ovary	KURAMOCHI	9.4
Ovary	MCAS	9.7
Ovary	NIHOVCAR3	9.3
Ovary	OAW28	10.1
Ovary	OAW42	9.2
Ovary	OC314	9.7
Ovary	OC316	9.8
Ovary	ONCODG1	9.3
Ovary	OV56	8.1
Ovary	OV7	9.3
Ovary	OV90	10.3
Ovary	OVCAR4	10.3
Ovary	OVCAR8	10.5
Ovary	OVISE	8
Ovary	OVK18	9.5
Ovary	OVKATE	9.4
Ovary	OVMANA	8.7
Ovary	OVSAHO	10.3
Ovary	OVTOKO	9.5
Ovary	RMGI	8.4
Ovary	RMUGS	8.7
Ovary	SKOV3	8.8
Ovary	SNU119	9.9
Ovary	SNU840	8.4
Ovary	SNU8	9.4
Ovary	TOV112D	9.8
Ovary	TOV21G	9.1
Ovary	TYKNU	10.4
Pancreas	ASPC1	8.4
Pancreas	BXPC3	9.1
Pancreas	CAPAN1	9.4
Pancreas	CAPAN2	10.4
Pancreas	CFPAC1	9.7
Pancreas	DANG	9
Pancreas	HPAC	10.1
Pancreas	HPAFII	8.6
Pancreas	HS766T	9.3
Pancreas	HUPT3	10
Pancreas	HUPT4	9.8
Pancreas	KCIMOH1	9
Pancreas	KLM1	9.7
Pancreas	KP2	9.7
Pancreas	KP3	9.1
Pancreas	KP4	10.2
Pancreas	L33	8.7
Pancreas	MIAPACA2	10.8
Pancreas	PANC0203	9.9
Pancreas	PANC0213	8.5
Pancreas	PANC0327	10.1
Pancreas	PANC0403	9.6
Pancreas	PANC0504	9.1
Pancreas	PANC0813	9.4
Pancreas	PANC1005	10
Pancreas	PANC1	9.7
Pancreas	PATU8902	9.5
Pancreas	PATU8988S	9.7
Pancreas	PATU8988T	9.7
Pancreas	PK1	9.7
Pancreas	PK45H	9.3
Pancreas	PK59	8.7
Pancreas	PL45	10.2
Pancreas	PSN1	8.9
Pancreas	QGP1	10.8
Pancreas	SNU213	8.5
Pancreas	SNU324	10.1
Pancreas	SNU410	10
Pancreas	SU8686	8
Pancreas	SUIT2	9.7
Pancreas	SW1990	10.5
Pancreas	T3M4	9
Pancreas	TCCPAN2	9.6
Pancreas	YAPC	10
Pleura	ACCMESO1	9.7
Pleura	DM3	6.9
Pleura	ISTMES1	9.6
Pleura	ISTMES2	10
Pleura	JL1	9.3
Pleura	MPP89	9.1
Pleura	MSTO211H	9.6
Pleura	NCIH2052	8.1
Pleura	NCIH2452	9.9
Pleura	NCIH28	10.4
Prostate	22RV1	10.6
Prostate	DU145	9.8
Prostate	LNCAPCLONEFGC	9
Prostate	MDAPCA2B	8.5
Prostate	NCIH660	10.5
Prostate	PC3	9.8
Prostate	VCAP	9.1
Salivary gland	A253	8.8
Salivary gland	YD15	10
Skin	A101D	10.5
Skin	A2058	10.3
Skin	A375	10
Skin	C32	11
Skin	CHL1	10.3
Skin	CJM	8.3
Skin	COLO679	9.6
Skin	COLO741	10
Skin	COLO783	9.1
Skin	COLO792	9.7
Skin	COLO800	9.4
Skin	COLO818	9.2
Skin	COLO829	8.9
Skin	COLO849	10.3
Skin	G361	9.6
Skin	GRM	10.2
Skin	HMCB	10.7
Skin	HS294T	9.7
Skin	HS600T	8
Skin	HS688AT	7.5
Skin	HS695T	10
Skin	HS839T	8.9
Skin	HS852T	9.3
Skin	HS895T	7.7
Skin	HS934T	8.8
Skin	HS936T	9.9
Skin	HS939T	9.9
Skin	HS940T	7.3
Skin	HS944T	10.2
Skin	HT144	9.8
Skin	IGR1	9.7
Skin	IGR37	10.1
Skin	IGR39	9.9
Skin	IPC298	9.8
Skin	K029AX	9.4
Skin	LOXIMVI	9.3
Skin	MALME3M	9.5
Skin	MDAMB435S	9
Skin	MELHO	10.3
Skin	MELJUSO	9.9
Skin	MEWO	8.4
Skin	RPMI7951	9.3
Skin	RVH421	9.6
Skin	SH4	9.8
Skin	SKMEL1	10.2
Skin	SKMEL24	9.3
Skin	SKMEL28	9.4
Skin	SKMEL2	10.4
Skin	SKMEL30	9.2
Skin	SKMEL31	9.9
Skin	SKMEL3	9.9
Skin	SKMEL5	9.4
Skin	UACC257	9.9
Skin	UACC62	8.9
Skin	WM115	9.3
Skin	WM1799	9.3
Skin	WM2664	10.1
Skin	WM793	9.7
Skin	WM88	9.1
Skin	WM983B	10.6
Small intestine	HUTU80	10.1
Soft tissue	A204	10
Soft tissue	G401	9.9
Soft tissue	G402	9.8
Soft tissue	GCT	9.7
Soft tissue	HS729	9.8
Soft tissue	HT1080	9.5
Soft tissue	KYM1	9.5
Soft tissue	MESSA	9.4
Soft tissue	RD	10.7
Soft tissue	RH30	9.7
Soft tissue	RH41	10.6
Soft tissue	RKN	9.4
Soft tissue	S117	9
Soft tissue	SJRH30	10.5
Soft tissue	SKLMS1	9.6
Soft tissue	SKUT1	10.5
Soft tissue	TE125T	8.2
Soft tissue	TE159T	7.9
Soft tissue	TE441T	10
Soft tissue	TE617T	10.4
Stomach	2313287	9.8
Stomach	AGS	10.4
Stomach	AZ521	10
Stomach	ECC10	10.1
Stomach	ECC12	10
Stomach	FU97	9.4
Stomach	GCIY	6.8
Stomach	GSS	9.4
Stomach	GSU	9.6
Stomach	HGC27	10.4
Stomach	HS746T	8.7
Stomach	HUG1N	10.6
Stomach	IM95	10.3
Stomach	KATOIII	9.7
Stomach	KE39	10.7
Stomach	LMSU	9.8
Stomach	MKN1	10.2
Stomach	MKN45	9.2
Stomach	MKN74	9
Stomach	MKN7	9.2
Stomach	NCCSTCK140	6.9
Stomach	NCIN87	8.9
Stomach	NUGC2	7.6
Stomach	NUGC3	9.3
Stomach	NUGC4	9.7
Stomach	OCUM1	9.8
Stomach	RERFGC1B	8.5
Stomach	SH10TC	9.7
Stomach	SNU16	10.8
Stomach	SNU1	10.1
Stomach	SNU216	10.2
Stomach	SNU520	10.3
Stomach	SNU5	9.8
Stomach	SNU601	9.7
Stomach	SNU620	10
Stomach	SNU668	8.8
Stomach	SNU719	10.6
Stomach	TGBC11TKB	9.6
Thyroid	8305C	8.7
Thyroid	8505C	9.2
Thyroid	BCPAP	6.9
Thyroid	BHT101	9.4
Thyroid	CAL62	10.5
Thyroid	CGTHW1	9.3
Thyroid	FTC133	10
Thyroid	FTC238	9.7
Thyroid	ML1	9.3
Thyroid	SW579	8.9
Thyroid	TT2609C02	10.2
Thyroid	TT	8.9
Upper aerodigestive tract	BHY	9.3
Upper aerodigestive tract	BICR16	7.8
Upper aerodigestive tract	BICR18	9.7
Upper aerodigestive tract	BICR22	7.8
Upper aerodigestive tract	BICR31	8.1
Upper aerodigestive tract	BICR56	6.7
Upper aerodigestive tract	BICR6	8.8
Upper aerodigestive tract	CAL27	9
Upper aerodigestive tract	CAL33	8.8
Upper aerodigestive tract	DETROIT562	8.4
Upper aerodigestive tract	FADU	9.6
Upper aerodigestive tract	HS840T	8.6
Upper aerodigestive tract	HSC2	8.6
Upper aerodigestive tract	HSC3	9
Upper aerodigestive tract	HSC4	8.3
Upper aerodigestive tract	PECAPJ15	9.3
Upper aerodigestive tract	PECAPJ34CLONEC12	7.8
Upper aerodigestive tract	PECAPJ41CLONED2	8.5
Upper aerodigestive tract	PECAPJ49	8
Upper aerodigestive tract	SCC15	8.5
Upper aerodigestive tract	SCC25	8
Upper aerodigestive tract	SCC4	8.1
Upper aerodigestive tract	SCC9	8.4
Upper aerodigestive tract	SNU1076	7.8
Upper aerodigestive tract	SNU1214	8.8
Upper aerodigestive tract	SNU46	10
Upper aerodigestive tract	SNU899	9.5
Upper aerodigestive tract	YD10B	9.6
Upper aerodigestive tract	YD38	8.8
Upper aerodigestive tract	YD8	7.3
Urinary tract	5637	10
Urinary tract	639V	10.3
Urinary tract	647V	9.3
Urinary tract	BC3C	8.7
Urinary tract	BFTC905	9.1
Urinary tract	CAL29	9.3
Urinary tract	HS172T	7.6
Urinary tract	HT1197	8.6
Urinary tract	HT1376	9.8
Urinary tract	J82	9.3
Urinary tract	JMSU1	10.2
Urinary tract	KMBC2	9.4
Urinary tract	KU1919	10.3
Urinary tract	RT11284	9.7
Urinary tract	RT112	9.2
Urinary tract	RT4	9.3
Urinary tract	SCABER	9.2
Urinary tract	SW1710	9.8
Urinary tract	SW780	9.8
Urinary tract	T24	9.3
Urinary tract	TCCSUP	10.1
Urinary tract	UMUC1	8.7
Urinary tract	UMUC3	10.3
Urinary tract	VMCUB1	9.5

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Expression Level (TPM)
Adipose tissue	1.8
Adrenal gland	1.1
Appendix	13.8
Bone marrow	30
Breast	3.4
Cerebral cortex	2.1
Cervix, uterine	1.9
Colon	7.1
Duodenum	6.7
Endometrium	3.4
Epididymis	1.4
Esophagus	6.9
Fallopian tube	1.8
Gallbladder	3
Heart muscle	0.5
Kidney	1
Liver	1.1
Lung	2.7
Lymph node	26.3
Ovary	1.5
Pancreas	0.4
Parathyroid gland	2
Placenta	6.9
Prostate	1.6
Rectum	9.3
Salivary gland	0.5
Seminal vesicle	0.4
Skeletal muscle	0.6
Skin	12.7
Small intestine	7.8
Smooth muscle	4
Spleen	5.6
Stomach	3.9
Testis	50.4
Thyroid gland	2.2
Tonsil	20.2
Urinary bladder	5.5

> Text Mining based Expression

[ TOP ]

PMID	Expression	Cancer	Evidence
27859460	overexpression	Malignant Mesothelioma	BAP1 loss and high EZH2 expression were observed in 17 (53%) and 22 (66%) malignant mesothelioma cases, respectively, whereas none of the benign lesions showed BAP1 loss or high EZH2 expression.
28700329	overexpression	Prostate Carcinoma	Down-regulation of MT1E (p < 0.001) and GPR52 (p = 0.002) expression and up-regulated levels of EZH2 (p = 0.025) were specific biomarkers of BCR in at least one of the two PCa cohorts, but only MT1E expression retained the independent prognostic value in a multivariate analysis (p < 0.001).
28694563	aberrant expression	Gastric Carcinoma	For downstream pathways, CTNND1, EZH2, BCL2L2, CDH2, VIM, and EGFR were upregulated by ARPC2, whereas PTEN, BAK, and CDH1 were downregulated by ARPC2. ARPC2 showed higher expression in gastric cancer tissues than in normal gastric tissues.
28675510	overexpression	Colorectal Carcinoma	Twenty-seven of the 59 OGs evaluated were dysregulated: 14 down-regulated (KLF4, BCL2, SSETBP1, FGFR2, TSHR, MPL, KIT, PDGFRA, GNA11, GATA2, FGFR3, AR, CSF1R, and JAK3), seven up-regulated (DNMT1, EZH2, PTPN11, SKP2, CCND1, MET, and MYC); three down-regulated for MSI (FLT3, CARD11, and ALK); two up-regulated for MSI (IDH2 and HRAS); and one up-regulated with MSS tumors (CTNNB1).
28671703	overexpression	Bladder Carcinoma	Previous studies have suggested that EZH2 is up-regulated in bladder cancer tissues and identified it as a biomarker for poor prognosis.
28620234	overexpression	Ovarian Carcinoma	Here, we showed that EZH2 is up-regulated in ovarian cancer and is associated with tumor metastasis and poor survival by mRNA sequencing and microarray results from databases.
28554757	aberrant expression	Non-Small Cell Lung Carcinoma	The overall rate of EZH2 expression was 0.548 [95% confidence interval (CI) 0.491-0.604].
28536141	overexpression	Medulloblastoma	Here, we reported more abundant expression of maternal embryonic leucine-zipper kinase (MELK) and enhancer of zeste homolog 2 (EZH2) in medulloblastoma stem-like cells than in neural stem cells and the interaction between the two proteins could mediate the self-renewal of sonic hedgehog subtype medulloblastoma.
28444909	aberrant expression	Small Cell Carcinoma of the Ovary, Hypercalcaemic Type	Herein, we report that approximately 80% (19/24) of SCCOHT tumour samples have strong expression of the histone methyltransferase EZH2 by immunohistochemistry, with the rest expressing variable amounts of EZH2.
28388584	overexpression	Osteosarcoma	Additionally, EZH2 is highly expressed and associated with the 3' end region of lncRNA MALAT1 in osteosarcoma, and this association finally suppressed the expression of E-cadherin.
28387316	overexpression	Squamous Cell Lung Carcinoma	The pattern of high EZH2, but low H3K27me3 mark, is also prevalent in human lung SCC and SCC regions within ADSCC tumours.
28381186	aberrant expression	Colorectal Carcinoma	The results showed that the PVT1 expression in tumor tissues was higher than that in normal tissues, which was significantly correlated with the expression of c-Myc and three c-Myc regulating genes FUBP1, EZH2, and NPM1 and also correlated with the expression of two other PVT1-associated transcript factors nuclear factor-κB and myocyte-specific enhancer factor 2A.
28359267	overexpression	Merkel Cell Carcinoma	ALK, CDKN2A, EZH2 and ERBB4 were overexpressed, and EGFR, ERBB2, PDGFRA and FGFR1 were underexpressed in MCC tumors compared to normal skin.
28338656	overexpression	Hepatocellular Carcinoma	Accordingly, FAK, EZH2 and H3K27me3 were concomitantly upregulated in human HCCs compared to non-tumor livers.
28260932	overexpression	Chronic Lymphocytic Leukemia	The level of SIRT1 and EZH2 mRNA expression was upregulated in patients with CLL (P=0.03 and P=0.02, respectively), which increased significantly with progression from Binet stage A to stage C (P=0.015 and P=0.01, respectively) and Rai good to high risk stage (P=0.007 and P=0.008, respectively).
28253895	overexpression	Breast Carcinoma	Women with a breast biopsy in which more than 20% of normal epithelial cells expressed EZH2 had a significantly increased risk of developing breast cancer (odds ratio (OR) 2.95, 95% confidence interval (CI) 1.11-7.84) compared to women with less than 10% EZH2 epithelial expression.
28242758	overexpression	Pancreatic Carcinoma	Enhancer of zeste homolog 2 (EZH2) is an oncogenic protein overexpressed in pancreatic cancer, and EZH2 could be a potential therapeutic target for the treatment of pancreatic cancer.
28184935	overexpression	Prostate Carcinoma	The results indicated that EZH2 expression was elevated followed by PCa development.
27983539	overexpression	Colorectal Carcinoma	ANCR, EZH2 and H3K27me3 expressions were up-regulated in CRC tissues and SW620 cells (all P < 0.05).
27697098	overexpression	Cervical Carcinoma	EZH2 mRNA was increased in cancer tissues compared to normal tissues (3.54±0.71 vs. 1.2±0.65; p=0.003).
27644248	overexpression	Hepatocellular Carcinoma	Overall, we found that NIPP1 and EZH2 were overexpressed in both HCC tissue samples and HCC cell lines.
27706111	Overexpression	Colorectal Carcinoma	In this study, mRNA and protein expression of EZH2 in four CRC cell lines were tested at first and RKO and HCT116 cells showed the highest levels among them.
27697098	Overexpression	Cervical Carcinoma	Overexpression of EZH2 was found in 30 patients (76.9%) and was associated with FIGO stage, histological type, and lymph node metastasis (P<0.05).
27502594	Overexpression	Canine mammary carcinoma	Investigation of the expression of EZH2 in canine mammary tumors revealed that EZH2 protein was overexpressed in canine mammary carcinomas, as in human breast cancer.
27472460	Overexpression	Non-Small Cell Lung Carcinoma	In non-small cell lung cancer (NSCLC) cells and primary lung tumors, we found that PRC2 components, including EZH2, are overexpressed.
27471434	Overexpression	Pediatric soft tissue sarcoma	High EZH2 expression is correlated to metastatic disease in pediatric soft tissue sarcomas.
27446358	Overexpression	Laryngeal squamous cell carcinoma	In the present study, the level of EZH2 expression in laryngeal squamous cell carcinomas was evaluated using immunochemical staining and reverse transcription-quantitative polymerase chain reaction.
27300769	Overexpression	Bladder Carcinoma	EZH2 is overexpressed in bladder cancer (BC) and plays important roles in tumor development and progression.
27223261	Overexpression	Osteosarcoma	Results showed that higher expression of EZH2 was significantly associated with more aggressive tumor behavior and poor patient outcomes of osteosarcoma.
27191993	Overexpression	Chronic lymphocytic leukemia	In conclusion, EZH2 is overexpressed in adverse-prognosis CLL and associated with increased cell survival and proliferation.
26848980	Overexpression	Pancreatic Carcinoma	We found that EZH2 expression is up-regulated in pancreatic cancer tissues and positively correlated with lymph node metastasis and advanced clinical stage in pancreatic cancer patients.
24345883	Overexpression	Tongue Carcinoma	We found that aberrantly overexpressed EZH2 was associated with pathological grade, cervical nodes metastasis and Ki-67 expression in tongue cancers.
24335192	Overexpression	Ovarian Carcinoma	Aberrant overexpression of the enhancer of zeste homolog 2 (EZH2), a histone methyltransferase inhibiting targets expression via epigenetic mechanisms, is associated with an invasive phenotype and drug resistance in ovarian cancer.
24294976	Overexpression	Breast Carcinoma	The results showed that EZH2 is expressed at higher levels in human IBC cell lines compared with normal human mammary epithelial cells, and the knockdown of EZH2 expression significantly suppressed cell growth and tumor spheroid formation of human IBC cells in vitro.
24139839	Overexpression	Glioma	Both Bmi1 and EZH2 expressions in glioma tissues were significantly higher than those in corresponding nonneoplastic brain tissues (both P<0.001).
24132643	Overexpression	Malignant Peripheral Nerve Sheath Tumor	Up-regulated EZH2 in MPNST inhibits miR-30d transcription via promoter binding activity, leading to enhanced expression of the nuclear transport receptor KPNB1 that is inhibited by miR-30d targeting of KPNB1 3' UTR region.
24132606	Overexpression	Non-Small Cell Lung Carcinoma	Here, we showed that EZH2 was up-regulated in lung cancer and had a positive correlation with pathologic stage, nodal involvement in lung cancer patients.
22977606	Overexpression	Lung Carcinoma	In this study, the expression of miR-101 was down-regulated and the expression of EZH2 was up-regulated in lung cancer.
22622284	Overexpression	Pancreatic Ductal Adenocarcinoma	Pancreatic ductal adenocarcinoma (PDAC) is characterized by overexpression of enhancer of Zeste homolog-2 (EZH2), which plays a pivotal role in cancer stem cell (CSC) self-renewal through methylation of histone H3 lysine-27 (H3K27me3).
21719208	Overexpression	Gallbladder Adenocarcinoma	Overexpression of EZH2 and loss of expression of PTEN is associated with invasion, metastasis, and poor progression of gallbladder adenocarcinoma.

Summary
Symbol	EZH2
Name	enhancer of zeste 2 polycomb repressive complex 2 subunit
Aliases	ENX-1; KMT6; KMT6A; enhancer of zeste (Drosophila) homolog 2; enhancer of zeste homolog 2 (Drosophila); ENX1 ......
Location	7q36.1
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)

[ TOP ]

Correlation between expression and SCNA as well as percentage of patients in different status.

Cancer	Full Name	# Sample	R	P	% Loss	% Neutral	% Gain	Status
BLCA	Bladder urothelial carcinoma	404	0.237	1.42e-06	13.1	55	31.9	Neutral
BRCA	Breast invasive carcinoma	1075	0.332	4.2e-29	16.9	57.6	25.5	Neutral
CESC	Cervical and endocervical cancers	292	0.441	2.54e-15	20.2	67.5	12.3	Neutral
COAD	Colon adenocarcinoma	449	0.248	1.01e-07	1.6	49.9	48.6	Gain
ESCA	Esophageal carcinoma	183	0.619	9.1e-21	36.6	36.1	27.3	Loss
GBM	Glioblastoma multiforme	147	0.396	6.72e-07	1.4	16.3	82.3	Gain
HNSC	Head and Neck squamous cell carcinoma	514	0.414	9.82e-23	24.1	57.4	18.5	Neutral
KIRC	Kidney renal clear cell carcinoma	525	0.266	6.18e-10	1.1	65.9	33	Neutral
KIRP	Kidney renal papillary cell carcinoma	288	0.383	1.75e-11	0.7	38.9	60.4	Gain
LAML	Acute Myeloid Leukemia	166	0.385	3.04e-07	12.7	87.3	0	Neutral
LGG	Brain Lower Grade Glioma	513	0.358	6.49e-17	1	64.7	34.3	Gain
LIHC	Liver hepatocellular carcinoma	364	0.171	0.00106	9.3	58.2	32.4	Neutral
LUAD	Lung adenocarcinoma	512	0.351	2.57e-16	10.7	45.7	43.6	Gain
LUSC	Lung squamous cell carcinoma	498	0.46	2.03e-27	18.3	40.4	41.4	Gain
OV	Ovarian serous cystadenocarcinoma	300	0.373	2.56e-11	14.7	35.7	49.7	Gain
PAAD	Pancreatic adenocarcinoma	177	0.167	0.0259	7.9	68.9	23.2	Neutral
PCPG	Pheochromocytoma and Paraganglioma	162	0.326	2.28e-05	4.9	82.1	13	Neutral
PRAD	Prostate adenocarcinoma	491	0.414	9.93e-22	1.8	79	19.1	Neutral
READ	Rectum adenocarcinoma	164	0.272	0.000423	2.4	45.1	52.4	Gain
SARC	Sarcoma	255	0.235	0.000157	22.4	51.8	25.9	Neutral
SKCM	Skin Cutaneous Melanoma	367	0.437	1.62e-18	5.7	34.9	59.4	Gain
STAD	Stomach adenocarcinoma	413	0.383	7.47e-16	20.1	48.9	31	Neutral
TGCT	Testicular Germ Cell Tumors	150	0.611	9.91e-17	9.3	29.3	61.3	Gain
THCA	Thyroid carcinoma	497	0.025	0.572	0	96	4	Neutral
THYM	Thymoma	119	-0.038	0.682	2.5	83.2	14.3	Neutral
UCEC	Uterine Corpus Endometrial Carcinoma	537	0.19	9.13e-06	11.5	74.1	14.3	Neutral

Summary
Symbol	EZH2
Name	enhancer of zeste 2 polycomb repressive complex 2 subunit
Aliases	ENX-1; KMT6; KMT6A; enhancer of zeste (Drosophila) homolog 2; enhancer of zeste homolog 2 (Drosophila); ENX1 ......
Location	7q36.1
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

[ TOP ]

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
BLCA	Bladder urothelial carcinoma	-0.293	9.47e-10	17	408	-0.088	0.000374	NS/NA
BRCA	Breast invasive carcinoma	-0.277	1.27e-16	83	785	-0.133	2.29e-110	NS/NA
CESC	Cervical and endocervical cancers	-0.261	3.49e-06	3	306	NA	NA	NS/NA
COAD	Colon adenocarcinoma	-0.233	3.08e-05	19	297	0	0.067	NS/NA
ESCA	Esophageal carcinoma	-0.271	0.000142	9	185	NA	NA	NS/NA
GBM	Glioblastoma multiforme	-0.225	0.0716	1	64	NA	NA	NS/NA
HNSC	Head and Neck squamous cell carcinoma	-0.211	7.65e-07	20	522	-0.037	0.147	NS/NA
KIRC	Kidney renal clear cell carcinoma	-0.248	3.59e-06	24	319	-0.068	3.25e-33	NS/NA
KIRP	Kidney renal papillary cell carcinoma	-0.25	1.31e-05	23	275	-0.059	0.813	NS/NA
LAML	Acute Myeloid Leukemia	-0.174	0.023	0	170	NA	NA	NS/NA
LGG	Brain Lower Grade Glioma	-0.232	7.65e-08	0	530	NA	NA	NS/NA
LIHC	Liver hepatocellular carcinoma	-0.214	1.13e-05	41	373	-0.007	0.39	NS/NA
LUAD	Lung adenocarcinoma	-0.253	2.3e-08	21	456	-0.048	0.000493	NS/NA
LUSC	Lung squamous cell carcinoma	-0.393	1.13e-15	8	370	NA	NA	NS/NA
OV	Ovarian serous cystadenocarcinoma	-0.533	0.148	0	9	NA	NA	NS/NA
PAAD	Pancreatic adenocarcinoma	-0.305	2.86e-05	4	179	NA	NA	NS/NA
PCPG	Pheochromocytoma and Paraganglioma	-0.107	0.147	3	184	NA	NA	NS/NA
PRAD	Prostate adenocarcinoma	-0.474	0	35	498	-0.053	0.00015	NS/NA
READ	Rectum adenocarcinoma	-0.249	0.0123	2	99	NA	NA	NS/NA
SARC	Sarcoma	-0.067	0.278	0	263	NA	NA	NS/NA
SKCM	Skin Cutaneous Melanoma	-0.161	0.000435	1	471	NA	NA	NS/NA
STAD	Stomach adenocarcinoma	-0.229	8.74e-06	0	372	NA	NA	NS/NA
TGCT	Testicular Germ Cell Tumors	-0.371	2.24e-06	0	156	NA	NA	NS/NA
THCA	Thyroid carcinoma	-0.442	0	50	509	-0.003	0.929	NS/NA
THYM	Thymoma	-0.33	0.00022	2	120	NA	NA	NS/NA
UCEC	Uterine Corpus Endometrial Carcinoma	-0.247	7.57e-08	34	431	-0.123	2.17e-10	NS/NA

Summary
Symbol	EZH2
Name	enhancer of zeste 2 polycomb repressive complex 2 subunit
Aliases	ENX-1; KMT6; KMT6A; enhancer of zeste (Drosophila) homolog 2; enhancer of zeste homolog 2 (Drosophila); ENX1 ......
Location	7q36.1
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)

[ TOP ]

Cancer	Full Name	# Sample	Median (abundance)	MAD (abundance)
HNSC	Head and Neck squamous cell carcinoma	212	-0.799	0.16

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Level	Level Name
Adrenal gland	1	Low
Appendix	2	Medium
Bone marrow	3	High
Breast	0	Not detected
Bronchus	2	Medium
Caudate	0	Not detected
Cerebellum	0	Not detected
Cerebral cortex	0	Not detected
Cervix, uterine	3	High
Colon	3	High
Duodenum	3	High
Endometrium	2	Medium
Epididymis	1	Low
Esophagus	3	High
Fallopian tube	2	Medium
Gallbladder	0	Not detected
Heart muscle	0	Not detected
Hippocampus	0	Not detected
Kidney	0	Not detected
Liver	0	Not detected
Lung	1	Low
Lymph node	2	Medium
Nasopharynx	2	Medium
Oral mucosa	2	Medium
Ovary	0	Not detected
Pancreas	1	Low
Parathyroid gland	0	Not detected
Placenta	3	High
Prostate	0	Not detected
Rectum	3	High
Salivary gland	1	Low
Seminal vesicle	0	Not detected
Skeletal muscle	0	Not detected
Skin	2	Medium
Small intestine	3	High
Smooth muscle	0	Not detected
Soft tissue	0	Not detected
Spleen	2	Medium
Stomach	3	High
Testis	3	High
Thyroid gland	0	Not detected
Tonsil	3	High
Urinary bladder	2	Medium
Vagina	3	High

Summary
Symbol	EZH2
Name	enhancer of zeste 2 polycomb repressive complex 2 subunit
Aliases	ENX-1; KMT6; KMT6A; enhancer of zeste (Drosophila) homolog 2; enhancer of zeste homolog 2 (Drosophila); ENX1 ......
Location	7q36.1
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

[ TOP ]

Association between expresson and subtype.

Cancer	Full Name	# Patients	P Value (Kruskal-Wallis)	Association	Source
BLCA	Bladder urothelial carcinoma	128	0.314	NS	24476821
BRCA	Breast invasive carcinoma	521	1.59e-50	Significant	23000897
COAD	Colon adenocarcinoma	149	0.68	NS	22810696
GBM	Glioblastoma multiforme	157	0.000341	Significant	26824661
HNSC	Head and Neck squamous cell carcinoma	279	2.03e-09	Significant	25631445
KIRP	Kidney renal papillary cell carcinoma	161	0.0884	NS	26536169
LGG	Brain Lower Grade Glioma	513	0.00095	Significant	26824661
LUAD	Lung adenocarcinoma	230	7.97e-17	Significant	25079552
LUSC	Lung squamous cell carcinoma	178	2.63e-10	Significant	22960745
OV	Ovarian serous cystadenocarcinoma	287	2.5e-08	Significant	21720365
PRAD	Prostate adenocarcinoma	333	0.0236	Significant	26544944
READ	Rectum adenocarcinoma	67	0.00995	Significant	22810696
SKCM	Skin Cutaneous Melanoma	315	0.278	NS	26091043
STAD	Stomach adenocarcinoma	277	6.05e-16	Significant	25079317
THCA	Thyroid carcinoma	391	1.84e-07	Significant	25417114
UCEC	Uterine Corpus Endometrial Carcinoma	232	1.05e-05	Significant	23636398

> Overall survival

[ TOP ]

Overall survival analysis based on expression.

Cancer	Full Name	# Patients	Hazard Ratio	P Value (Log Rank Test)	Association
BLCA	Bladder urothelial carcinoma	405	1.049	0.822	NS
BRCA	Breast invasive carcinoma	1079	1.216	0.387	NS
CESC	Cervical and endocervical cancers	291	0.468	0.0269	Longer
COAD	Colon adenocarcinoma	439	0.763	0.322	NS
ESCA	Esophageal carcinoma	184	1.799	0.0939	NS
GBM	Glioblastoma multiforme	158	1.169	0.555	NS
HNSC	Head and Neck squamous cell carcinoma	518	0.607	0.0132	Longer
KIRC	Kidney renal clear cell carcinoma	531	2.526	9.77e-06	Shorter
KIRP	Kidney renal papillary cell carcinoma	287	2.931	0.0112	Shorter
LAML	Acute Myeloid Leukemia	149	0.809	0.462	NS
LGG	Brain Lower Grade Glioma	511	2.887	1.59e-05	Shorter
LIHC	Liver hepatocellular carcinoma	365	2.622	6.65e-05	Shorter
LUAD	Lung adenocarcinoma	502	1.172	0.474	NS
LUSC	Lung squamous cell carcinoma	494	0.722	0.0903	NS
OV	Ovarian serous cystadenocarcinoma	303	0.905	0.621	NS
PAAD	Pancreatic adenocarcinoma	177	2.475	0.0024	Shorter
PCPG	Pheochromocytoma and Paraganglioma	179	537045715.674	0.0679	NS
PRAD	Prostate adenocarcinoma	497	3.887	0.193	NS
READ	Rectum adenocarcinoma	159	1.009	0.987	NS
SARC	Sarcoma	259	1.435	0.218	NS
SKCM	Skin Cutaneous Melanoma	459	1.207	0.324	NS
STAD	Stomach adenocarcinoma	388	0.524	0.00416	Longer
TGCT	Testicular Germ Cell Tumors	134	1	1	NS
THCA	Thyroid carcinoma	500	0.817	0.762	NS
THYM	Thymoma	119	0	0.0163	Longer
UCEC	Uterine Corpus Endometrial Carcinoma	543	1.979	0.0177	Shorter

> Stage

[ TOP ]

Association between expresson and stage.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
BLCA	Bladder urothelial carcinoma	406	0.047	0.346	NS
BRCA	Breast invasive carcinoma	1071	0.025	0.409	NS
CESC	Cervical and endocervical cancers	167	0.147	0.0587	NS
COAD	Colon adenocarcinoma	445	-0.094	0.0465	Lower
ESCA	Esophageal carcinoma	162	-0.066	0.404	NS
HNSC	Head and Neck squamous cell carcinoma	448	-0.044	0.358	NS
KIRC	Kidney renal clear cell carcinoma	531	0.229	9.98e-08	Higher
KIRP	Kidney renal papillary cell carcinoma	260	0.157	0.0114	Higher
LIHC	Liver hepatocellular carcinoma	347	0.199	0.000187	Higher
LUAD	Lung adenocarcinoma	507	0.078	0.0788	NS
LUSC	Lung squamous cell carcinoma	497	0.092	0.0405	Higher
OV	Ovarian serous cystadenocarcinoma	302	-0.089	0.121	NS
PAAD	Pancreatic adenocarcinoma	176	0.118	0.118	NS
READ	Rectum adenocarcinoma	156	-0.022	0.784	NS
SKCM	Skin Cutaneous Melanoma	410	-0.069	0.164	NS
STAD	Stomach adenocarcinoma	392	-0.051	0.313	NS
TGCT	Testicular Germ Cell Tumors	81	0.263	0.0175	Higher
THCA	Thyroid carcinoma	499	-0.01	0.82	NS
UCEC	Uterine Corpus Endometrial Carcinoma	501	0.147	0.000969	Higher

> Grade

[ TOP ]

Association between expresson and grade.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
CESC	Cervical and endocervical cancers	272	-0.097	0.11	NS
HNSC	Head and Neck squamous cell carcinoma	498	0.118	0.00826	Higher
KIRC	Kidney renal clear cell carcinoma	525	0.228	1.28e-07	Higher
LGG	Brain Lower Grade Glioma	514	0.302	2.71e-12	Higher
LIHC	Liver hepatocellular carcinoma	366	0.306	2.31e-09	Higher
OV	Ovarian serous cystadenocarcinoma	296	0.054	0.358	NS
PAAD	Pancreatic adenocarcinoma	176	0.157	0.037	Higher
STAD	Stomach adenocarcinoma	406	-0.105	0.0349	Lower
UCEC	Uterine Corpus Endometrial Carcinoma	534	0.4	6.06e-22	Higher

Summary
Symbol	EZH2
Name	enhancer of zeste 2 polycomb repressive complex 2 subunit
Aliases	ENX-1; KMT6; KMT6A; enhancer of zeste (Drosophila) homolog 2; enhancer of zeste homolog 2 (Drosophila); ENX1 ......
Location	7q36.1
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 [ TOP ]

> Targets identified by ChIP-seq data [ TOP ]

Summary
Symbol	EZH2
Name	enhancer of zeste 2 polycomb repressive complex 2 subunit
Aliases	ENX-1; KMT6; KMT6A; enhancer of zeste (Drosophila) homolog 2; enhancer of zeste homolog 2 (Drosophila); ENX1 ......
Location	7q36.1
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 [ TOP ]
There is no record for EZH2.

Summary
Symbol	EZH2
Name	enhancer of zeste 2 polycomb repressive complex 2 subunit
Aliases	ENX-1; KMT6; KMT6A; enhancer of zeste (Drosophila) homolog 2; enhancer of zeste homolog 2 (Drosophila); ENX1 ......
Location	7q36.1
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 [ TOP ]

> miRNA Regulatory Relationship [ TOP ]

> Interactions from Text Mining

[ TOP ]

PMID	Cancer	Hierarchy	Gene	Relation to CR	Evidence
28694563	Gastric Carcinoma	upstream	ARPC2	positive regulation	For downstream pathways, CTNND1, EZH2, BCL2L2, CDH2, VIM, and EGFR were upregulated by ARPC2, whereas PTEN, BAK, and CDH1 were downregulated by ARPC2.
28626218	Myelodysplastic Syndrome; Myeloproliferative Neoplasm	partner	TET2; ASXL1; RUNX1	correlation	EZH2 mutations frequently co-occur with TET2 (58%), RUNX1 (40%) and ASXL1 (34%) mutations.
28620234	Ovarian Carcinoma	partner	TIMP2	negative correlation	Tissue microarray and immunohistochemistry results revealed that EZH2 was negatively correlated with the expression of tissue inhibitor of metalloproteinases 2 (TIMP2).
28394193	Lymphoma; Myelodysplastic Syndrome; Myeloproliferative Neoplasm	partner	H3K27me3	negative correlation	EZH2 somatic mutations and deletions was found in lymphomas, myelodysplastic and myeloproliferative disorders and associated with higher H3K27me3 levels.
28381186	Colorectal Carcinoma	partner	PVT1	correlation	The results showed that the PVT1 expression in tumor tissues was higher than that in normal tissues, which was significantly correlated with the expression of c-Myc and three c-Myc regulating genes FUBP1, EZH2, and NPM1 and also correlated with the expression of two other PVT1-associated transcript factors nuclear factor-κB and myocyte-specific enhancer factor 2A.
28242758	Pancreatic Carcinoma	upstream	FBW7	negative regulation	Here we demonstrate that EZH2 is a bona fide substrate of FBW7 in pancreatic cancer cells. We further show that FBW7 suppresses EZH2 activity and inhibits tumor migration and invasion via degradation of EZH2 in pancreatic cancer cells.
27706111	Colorectal Carcinoma	downstream	autophagy; and apoptosis	Negative regulation	Meanwhile, downregulation of EZH2 in CRC cells induces autophagy and apoptosis.
27622325	Gastric Carcinoma	upstream	MicroRNA-126	Negative regulation	Mechanistically, Enhancer of Zeste Homolog 2 (EZH2) was identified as a direct target of miR-126.
27620004	Gastric Carcinoma	upstream	MicroRNA-101	Negative regulation	Long non-coding RNA XIST regulates gastric cancer progression by acting as a molecular sponge of miR-101 to modulate EZH2 expression.
27494834	Breast Carcinoma	upstream	GSK3β	regulation	Our study indicated that GSK3β phosphorylates EZH2 at Ser363 and Thr367, resulting in reduced H3K27 trimethylation and biological activity of EZH2 in breast cancer.
27472460	Non-Small Cell Lung Carcinoma	downstream	PUMA	Negative regulation	This is achieved through EZH2 directly binds to the Puma promoter thus epigenetic repression of PUMA expression.
27436059	Breast Carcinoma	downstream	RASSF2A	Negative regulation	Here, we showed that the downregulation of EZH2 reduces CpG island methylation of the RASSF2A promoter, thereby leading to increased RASSF2A expression.
27259264	Glioblastoma	downstream	EAF2-HIF1α signaling	Positive regulation	We conclude from these results that EZH2 promotes tumorigenesis and malignant progression in part by activating glycolysis through an EAF2-HIF1α signaling axis.
27207647	Hepatocellular Carcinoma	downstream	CLDN14	Negative regulation	These results, collectively, uncover that CLDN14 is a novel direct target of EZH2-mediated H3K27ME3, and provide an explanation for the aggressive nature of HCC with downregulation of CLDN14 and the underling mechanism that links the tumor suppressor CLDN14 to the wnt/β-catenin signaling pathway.
26676756	Lung Carcinoma	upstream	KRAS signaling	Positive regulation	Our work defines EZH2 as a downstream effector of KRAS signaling and offers a rationale for combining EZH2 inhibitory strategies with MEK-ERK- or PI3K/AKT-targeted therapies to treat lung cancer patients, as stratified into distinct treatment groups based on specific KRAS mutations.
24335192	Ovarian Carcinoma	downstream	BRCA1	Regulation	In the present study, we found depletion of EZH2 increased BRCA1 protein expression and promoted its nuclear translocation, but decreased BRCA1 mRNA expression.
24211739	Hepatocellular Carcinoma	upstream	MicroRNA-101	Negative regulation	MicroRNA-101 inhibits human hepatocellular carcinoma progression through EZH2 downregulation and increased cytostatic drug sensitivity.
24132643	Malignant Peripheral Nerve Sheath Tumor	downstream	miR-30d	Negative regulation	Up-regulated EZH2 in MPNST inhibits miR-30d transcription via promoter binding activity, leading to enhanced expression of the nuclear transport receptor KPNB1 that is inhibited by miR-30d targeting of KPNB1 3' UTR region.
24132606	Non-Small Cell Lung Carcinoma	downstream	TIMP-3	Negative regulation	EZH2 regulates cancer cell migration through repressing TIMP-3 in non-small cell lung cancer.
23874688	Nasopharyngeal Carcinoma	partner	GSK3β	correlation	We found that expression of EZH2 correlated with phosphorylated GSK3β (p-GSK3β) at Ser 9 (an inactivated form of GSK3β) in human nasopharyngeal carcinoma (NPC) samples.
22977606	Lung Carcinoma	upstream	miR-101	Negative regulation	Enhancer of zeste homolog 2 (EZH2) is the target of miR-101 and a member of the polycomb repressive complex 2, which is involved in the methylation of histone H3 at lysine 27 (H3K27).
22972404	Nasopharyngeal Carcinoma	upstream	Let-7a	Negative regulation	Let-7a inhibits proliferation and induces apoptosis by targeting EZH2 in nasopharyngeal carcinoma cells.
21368858	Nasopharyngeal Carcinoma	upstream	miR-26a; miR-101; miR-98	negative regulation	Enhancer of Zeste homolog 2 (EZH2) is overexpressed in recurrent nasopharyngeal carcinoma and is regulated by miR-26a, miR-101, and miR-98.
18806826	Breast Carcinoma; Prostate Carcinoma	downstream	E-cadherin	Negative regulation	Here, we demonstrate that EZH2 mediates transcriptional silencing of the tumor suppressor gene E-cadherin by trimethylation of H3 lysine 27.