CR2Cancer

Summary
Symbol	ATRX
Name	ATRX, chromatin remodeler
Aliases	XH2; XNP; RAD54 homolog (S. cerevisiae); RAD54; JMS; MRX52; alpha thalassemia/mental retardation syndrome X- ......
Location	Xq21.1
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

PF00271 Helicase conserved C-terminal domain
PF00176 SNF2 family N-terminal domain

Function

Involved in transcriptional regulation and chromatin remodeling. Facilitates DNA replication in multiple cellular environments and is required for efficient replication of a subset of genomic loci. Binds to DNA tandem repeat sequences in both telomeres and euchromatin and in vitro binds DNA quadruplex structures. May help stabilizing G-rich regions into regular chromatin structures by remodeling G4 DNA and incorporating H3.3-containing nucleosomes. Catalytic component of the chromatin remodeling complex ATRX:DAXX which has ATP-dependent DNA translocase activity and catalyzes the replication-independent deposition of histone H3.3 in pericentric DNA repeats outside S-phase and telomeres, and the in vitro remodeling of H3.3-containing nucleosomes. Its heterochromatin targeting is proposed to involve a combinatorial readout of histone H3 modifications (specifically methylation states of H3K9 and H3K4) and association with CBX5. Involved in maintaining telomere structural integrity in embryonic stem cells which probably implies recruitment of CBX5 to telomers. Reports on the involvement in transcriptional regulation of telomeric repeat-containing RNA (TERRA) are conflicting; according to a report, it is not sufficient to decrease chromatin condensation at telomers nor to increase expression of telomeric RNA in fibroblasts (PubMed:24500201). May be involved in telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines. Acts as negative regulator of chromatin incorporation of transcriptionally repressive histone H2AFY, particularily at telomeres and the alpha-globin cluster in erythroleukemic cells. Participates in the allele-specific gene expression at the imprinted IGF2/H19 gene locus. On the maternal allele, required for the chromatin occupancy of SMC1 and CTCTF within the H19 imprinting control region (ICR) and involved in esatblishment of histone tails modifications in the ICR. May be involved in brain development and facial morphogenesis. Binds to zinc-finger coding genes with atypical chromatin signatures and regulates its H3K9me3 levels. Forms a complex with ZNF274, TRIM28 and SETDB1 to facilitate the deposition and maintenance of H3K9me3 at the 3' exons of zinc-finger genes (PubMed:27029610).

Classification

Class	Modification	Substrate	Product	PubMed
Chromatin remodelling	#	H3K9me2, H3K9me3, H3K4	#	9499421

> Gene Ontology [ TOP ]
Biological Process	GO:0000070 mitotic sister chromatid segregation GO:0000723 telomere maintenance GO:0000819 sister chromatid segregation GO:0002064 epithelial cell development GO:0006260 DNA replication GO:0006261 DNA-dependent DNA replication GO:0006275 regulation of DNA replication GO:0006304 DNA modification GO:0006305 DNA alkylation GO:0006306 DNA methylation GO:0006310 DNA recombination GO:0006323 DNA packaging GO:0006333 chromatin assembly or disassembly GO:0006334 nucleosome assembly GO:0006336 DNA replication-independent nucleosome assembly GO:0006338 chromatin remodeling GO:0006479 protein methylation GO:0007059 chromosome segregation GO:0007062 sister chromatid cohesion GO:0007063 regulation of sister chromatid cohesion GO:0007064 mitotic sister chromatid cohesion GO:0007067 mitotic nuclear division GO:0007088 regulation of mitotic nuclear division GO:0007283 spermatogenesis GO:0007346 regulation of mitotic cell cycle GO:0007548 sex differentiation GO:0008213 protein alkylation GO:0008406 gonad development GO:0008584 male gonad development GO:0009791 post-embryonic development GO:0009886 post-embryonic animal morphogenesis GO:0010035 response to inorganic substance GO:0010571 positive regulation of nuclear cell cycle DNA replication GO:0010639 negative regulation of organelle organization GO:0010948 negative regulation of cell cycle process GO:0016570 histone modification GO:0016571 histone methylation GO:0018022 peptidyl-lysine methylation GO:0018023 peptidyl-lysine trimethylation GO:0018205 peptidyl-lysine modification GO:0030330 DNA damage response, signal transduction by p53 class mediator GO:0030900 forebrain development GO:0031056 regulation of histone modification GO:0031060 regulation of histone methylation GO:0031297 replication fork processing GO:0031497 chromatin assembly GO:0032200 telomere organization GO:0032204 regulation of telomere maintenance GO:0032206 positive regulation of telomere maintenance GO:0032259 methylation GO:0032392 DNA geometric change GO:0032508 DNA duplex unwinding GO:0032844 regulation of homeostatic process GO:0032846 positive regulation of homeostatic process GO:0033044 regulation of chromosome organization GO:0033045 regulation of sister chromatid segregation GO:0033046 negative regulation of sister chromatid segregation GO:0033047 regulation of mitotic sister chromatid segregation GO:0033048 negative regulation of mitotic sister chromatid segregation GO:0033260 nuclear DNA replication GO:0033262 regulation of nuclear cell cycle DNA replication GO:0034086 maintenance of sister chromatid cohesion GO:0034088 maintenance of mitotic sister chromatid cohesion GO:0034091 regulation of maintenance of sister chromatid cohesion GO:0034092 negative regulation of maintenance of sister chromatid cohesion GO:0034182 regulation of maintenance of mitotic sister chromatid cohesion GO:0034183 negative regulation of maintenance of mitotic sister chromatid cohesion GO:0034502 protein localization to chromosome GO:0034724 DNA replication-independent nucleosome organization GO:0034728 nucleosome organization GO:0034968 histone lysine methylation GO:0035107 appendage morphogenesis GO:0035108 limb morphogenesis GO:0035120 post-embryonic appendage morphogenesis GO:0035127 post-embryonic limb morphogenesis GO:0035128 post-embryonic forelimb morphogenesis GO:0035136 forelimb morphogenesis GO:0035264 multicellular organism growth GO:0036124 histone H3-K9 trimethylation GO:0042770 signal transduction in response to DNA damage GO:0043414 macromolecule methylation GO:0044728 DNA methylation or demethylation GO:0044786 cell cycle DNA replication GO:0045005 DNA-dependent DNA replication maintenance of fidelity GO:0045137 development of primary sexual characteristics GO:0045740 positive regulation of DNA replication GO:0045786 negative regulation of cell cycle GO:0045787 positive regulation of cell cycle GO:0045839 negative regulation of mitotic nuclear division GO:0045875 negative regulation of sister chromatid cohesion GO:0045930 negative regulation of mitotic cell cycle GO:0046546 development of primary male sexual characteristics GO:0046661 male sex differentiation GO:0048232 male gamete generation GO:0048608 reproductive structure development GO:0048736 appendage development GO:0051052 regulation of DNA metabolic process GO:0051054 positive regulation of DNA metabolic process GO:0051567 histone H3-K9 methylation GO:0051570 regulation of histone H3-K9 methylation GO:0051783 regulation of nuclear division GO:0051784 negative regulation of nuclear division GO:0051983 regulation of chromosome segregation GO:0051985 negative regulation of chromosome segregation GO:0060008 Sertoli cell differentiation GO:0060009 Sertoli cell development GO:0060173 limb development GO:0060249 anatomical structure homeostasis GO:0061458 reproductive system development GO:0061647 histone H3-K9 modification GO:0065004 protein-DNA complex assembly GO:0070198 protein localization to chromosome, telomeric region GO:0071103 DNA conformation change GO:0071241 cellular response to inorganic substance GO:0071824 protein-DNA complex subunit organization GO:0072331 signal transduction by p53 class mediator GO:0072520 seminiferous tubule development GO:0072710 response to hydroxyurea GO:0072711 cellular response to hydroxyurea GO:0090068 positive regulation of cell cycle process GO:0090329 regulation of DNA-dependent DNA replication GO:0097393 telomeric repeat-containing RNA transcription GO:0097394 telomeric repeat-containing RNA transcription from RNA pol II promoter GO:0098813 nuclear chromosome segregation GO:0099403 maintenance of mitotic sister chromatid cohesion, telomeric GO:0099404 mitotic sister chromatid cohesion, telomeric GO:1900112 regulation of histone H3-K9 trimethylation GO:1901580 regulation of telomeric RNA transcription from RNA pol II promoter GO:1901581 negative regulation of telomeric RNA transcription from RNA pol II promoter GO:1901582 positive regulation of telomeric RNA transcription from RNA pol II promoter GO:1902275 regulation of chromatin organization GO:1904907 regulation of maintenance of mitotic sister chromatid cohesion, telomeric GO:1904908 negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric GO:2000105 positive regulation of DNA-dependent DNA replication GO:2001251 negative regulation of chromosome organization GO:2001252 positive regulation of chromosome organization
Molecular Function	GO:0003678 DNA helicase activity GO:0003682 chromatin binding GO:0004386 helicase activity GO:0008094 DNA-dependent ATPase activity GO:0015616 DNA translocase activity GO:0016887 ATPase activity GO:0035064 methylated histone binding GO:0042393 histone binding GO:0042623 ATPase activity, coupled GO:0070087 chromo shadow domain binding
Cellular Component	GO:0000775 chromosome, centromeric region GO:0000781 chromosome, telomeric region GO:0000784 nuclear chromosome, telomeric region GO:0000785 chromatin GO:0000790 nuclear chromatin GO:0000792 heterochromatin GO:0005720 nuclear heterochromatin GO:0005721 pericentric heterochromatin GO:0016604 nuclear body GO:0016605 PML body GO:0031933 telomeric heterochromatin GO:0044454 nuclear chromosome part GO:0070603 SWI/SNF superfamily-type complex GO:0098687 chromosomal region GO:1990421 subtelomeric heterochromatin GO:1990707 nuclear subtelomeric heterochromatin

> KEGG and Reactome Pathway [ TOP ]
KEGG	-
Reactome	-

Summary
Symbol	ATRX
Name	ATRX, chromatin remodeler
Aliases	XH2; XNP; RAD54 homolog (S. cerevisiae); RAD54; JMS; MRX52; alpha thalassemia/mental retardation syndrome X- ......
Location	Xq21.1
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 ]

> Catalogue of Somatic Mutations in Cancer (COSMIC)

[ TOP ]

COSMIC ID	CDS change	AA change	Mutation Type	Anatomical Site
COSM1317254	c.671C>T	p.A224V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM85983	c.576G>C	p.L192F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM250041	c.5819_5822delATAG	p.D1940fs*14	Deletion - Frameshift	Central_nervous_system
COSM1469492	c.838T>A	p.C280S	Substitution - Missense	Large_intestine
COSM1716657	c.2341C>T	p.R781*	Substitution - Nonsense	Central_nervous_system
COSM250043	c.4145_4146delCT	p.S1382fs*1	Deletion - Frameshift	Central_nervous_system
COSM5766179	c.?_?del?	p.?	Unknown	Central_nervous_system
COSM1716641	c.1651G>T	p.G551*	Substitution - Nonsense	Central_nervous_system
COSM309390	c.7057A>G	p.I2353V	Substitution - Missense	Lung
COSM5898059	c.6659C>T	p.S2220L	Substitution - Missense	Skin
COSM3973950	c.595-2A>G	p.?	Unknown	Central_nervous_system
COSM1716709	c.5104_5107delGAAA	p.E1702fs*22	Deletion - Frameshift	Central_nervous_system
COSM85989	c.7014_7017delAACA	p.N2340fs*2	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM255219	c.21_6699del?	p.?	Unknown	Bone
COSM4969247	c.4347_4348delAG	p.E1450fs*16	Deletion - Frameshift	Central_nervous_system
COSM3097160	c.1292A>T	p.E431V	Substitution - Missense	Large_intestine
COSM5417532	c.?_?delT	p.?fs*?	Unknown	Endometrium
COSM1125388	c.7295C>T	p.T2432I	Substitution - Missense	Endometrium
COSM2155629	c.5529G>C	p.Q1843H	Substitution - Missense	Central_nervous_system
COSM3097071	c.3646A>G	p.I1216V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4111140	c.4047C>A	p.D1349E	Substitution - Missense	Stomach
COSM3973932	c.1828C>T	p.Q610*	Substitution - Nonsense	Central_nervous_system
COSM4767513	c.5957-6A>T	p.?	Unknown	Biliary_tract
COSM1716629	c.1075_1076insA	p.L359fs*3	Insertion - Frameshift	Central_nervous_system
COSM291788	c.6409G>A	p.A2137T	Substitution - Missense	Large_intestine
COSM5015759	c.2122A>G	p.I708V	Substitution - Missense	Kidney
COSM5731840	c.6124C>T	p.Q2042*	Substitution - Nonsense	Soft_tissue
COSM4767399	c.6224G>A	p.G2075E	Substitution - Missense	Adrenal_gland
COSM4135321	c.6829G>T	p.E2277*	Substitution - Nonsense	Pancreas
COSM5945720	c.?	p.E884D	Substitution - Missense	Central_nervous_system
COSM1125455	c.3905G>T	p.R1302I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716682	c.3345T>G	p.Y1115*	Substitution - Nonsense	Central_nervous_system
COSM2150835	c.5480delT	p.L1827fs*9	Deletion - Frameshift	Central_nervous_system
COSM4626598	c.7251G>A	p.Q2417Q	Substitution - coding silent	Large_intestine
COSM1125477	c.2741C>T	p.A914V	Substitution - Missense	Endometrium
COSM4949544	c.4531G>C	p.E1511Q	Substitution - Missense	Liver
COSM1716606	c.549delA	p.D184fs*22	Deletion - Frameshift	Central_nervous_system
COSM362816	c.4537G>T	p.E1513*	Substitution - Nonsense	Lung
COSM1125408	c.6077T>C	p.I2026T	Substitution - Missense	Endometrium
COSM1716934	c.6630T>G	p.F2210L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945726	c.?	p.D1051E	Substitution - Missense	Central_nervous_system
COSM5413122	c.4987C>T	p.Q1663*	Substitution - Nonsense	Skin
COSM5648117	c.5461A>T	p.T1821S	Substitution - Missense	Oesophagus
COSM3973936	c.1226T>A	p.L409*	Substitution - Nonsense	Central_nervous_system
COSM1497327	c.7217A>T	p.Q2406L	Substitution - Missense	Kidney
COSM1315697	c.6413C>T	p.S2138F	Substitution - Missense	Urinary_tract
COSM1317255	c.666G>C	p.W222C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM6005377	c.6218-6T>A	p.?	Unknown	Prostate
COSM1626140	c.3904delA	p.R1302fs*44	Deletion - Frameshift	Liver
COSM96933	c.6457C>T	p.R2153C	Substitution - Missense	Central_nervous_system
COSM4935179	c.2531C>T	p.T844I	Substitution - Missense	Liver
COSM1469466	c.3810A>C	p.R1270S	Substitution - Missense	Large_intestine
COSM144221	c.6331C>T	p.R2111*	Substitution - Nonsense	Central_nervous_system
COSM5731239	c.6067_6071delCTCTT	p.L2023fs*1	Deletion - Frameshift	Central_nervous_system
COSM1125505	c.1370T>A	p.I457N	Substitution - Missense	Endometrium
COSM4664621	c.5887C>T	p.R1963W	Substitution - Missense	Large_intestine
COSM5909937	c.4909G>A	p.E1637K	Substitution - Missense	Skin
COSM1125434	c.4539G>T	p.E1513D	Substitution - Missense	Endometrium
COSM3973942	c.784C>T	p.Q262*	Substitution - Nonsense	Central_nervous_system
COSM4960272	c.1351G>A	p.A451T	Substitution - Missense	Liver
COSM5498465	c.5698-7delT	p.?	Unknown	Biliary_tract
COSM5023155	c.4148_4149insT	p.Q1385fs*6	Insertion - Frameshift	Bone
COSM1469472	c.3392G>T	p.R1131I	Substitution - Missense	Breast
COSM1315705	c.1216C>G	p.H406D	Substitution - Missense	Urinary_tract
COSM3097041	c.4744_4745insA	p.T1582fs*19	Insertion - Frameshift	Large_intestine
COSM4664623	c.5406delA	p.K1802fs*10	Deletion - Frameshift	Large_intestine
COSM1716668	c.2809A>T	p.R937*	Substitution - Nonsense	Central_nervous_system
COSM5895145	c.7072-4T>G	p.?	Unknown	Skin
COSM5880301	c.?	p.R2197L	Substitution - Missense	Central_nervous_system
COSM5945694	c.?	p.F2113fs*?	Frameshift	Central_nervous_system
COSM5945697	c.?	p.E2277A	Substitution - Missense	Central_nervous_system
COSM1125499	c.1753G>T	p.E585*	Substitution - Nonsense	Endometrium
COSM4767395	c.3786_3788delTGA	p.D1264del	Deletion - In frame	Adrenal_gland
COSM1716686	c.3734C>G	p.S1245*	Substitution - Nonsense	Central_nervous_system
COSM3845400	c.3739G>C	p.D1247H	Substitution - Missense	Breast
COSM1716678	c.3147_3148delAA	p.I1049fs*3	Deletion - Frameshift	Central_nervous_system
COSM1125410	c.6010G>T	p.D2004Y	Substitution - Missense	Endometrium
COSM85821	c.6338_6341delTTAT	p.F2113fs*9	Deletion - Frameshift	Autonomic_ganglia
COSM1469482	c.2518_2519insA	p.R840fs*9	Insertion - Frameshift	Large_intestine
COSM1125467	c.3227C>G	p.S1076C	Substitution - Missense	Endometrium
COSM1125444	c.4280G>A	p.R1427H	Substitution - Missense	Endometrium
COSM1125491	c.2117G>A	p.S706N	Substitution - Missense	Endometrium
COSM250047	c.3904_3905insA	p.R1302fs*7	Insertion - Frameshift	Central_nervous_system
COSM144221	c.6331C>T	p.R2111*	Substitution - Nonsense	Central_nervous_system
COSM1736159	c.6368G>T	p.G2123V	Substitution - Missense	Central_nervous_system
COSM5911090	c.6182A>G	p.K2061R	Substitution - Missense	Skin
COSM5766180	c.?_?del?	p.?	Unknown	Central_nervous_system
COSM5725274	c.5921G>A	p.G1974E	Substitution - Missense	Skin
COSM5945703	c.?	p.K1332fs*?	Frameshift	Central_nervous_system
COSM85827	c.1363A>T	p.K455*	Substitution - Nonsense	Pancreas
COSM3406601	c.4112G>C	p.R1371T	Substitution - Missense	Central_nervous_system
COSM4971343	c.4829C>G	p.T1610R	Substitution - Missense	Central_nervous_system
COSM3097184	c.575T>C	p.L192S	Substitution - Missense	Large_intestine
COSM144214	c.3168_3168delG	p.K1057fs*61	Deletion - Frameshift	Central_nervous_system
COSM1125394	c.6811A>G	p.R2271G	Substitution - Missense	Endometrium
COSM250042	c.4599_4600insT	p.T1534fs*8	Insertion - Frameshift	Central_nervous_system
COSM1716627	c.1074delA	p.K358fs*2	Deletion - Frameshift	Large_intestine
COSM5961100	c.1679C>T	p.S560F	Substitution - Missense	Breast
COSM422485	c.7211G>C	p.C2404S	Substitution - Missense	Urinary_tract
COSM291788	c.6409G>A	p.A2137T	Substitution - Missense	Large_intestine
COSM1715177	c.7324C>A	p.P2442T	Substitution - Missense	Skin
COSM1716633	c.1159delA	p.T387fs*27	Deletion - Frameshift	Central_nervous_system
COSM144225	c.7327A>G	p.N2443D	Substitution - Missense	Central_nervous_system
COSM1125412	c.5486C>T	p.P1829L	Substitution - Missense	Endometrium
COSM85983	c.576G>C	p.L192F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4486653	c.3086C>T	p.P1029L	Substitution - Missense	Skin
COSM4943277	c.2551G>C	p.E851Q	Substitution - Missense	Breast
COSM5140356	c.6792_6794delAGA	p.E2265delE	Deletion - In frame	Large_intestine
COSM1190583	c.5649G>T	p.W1883C	Substitution - Missense	Lung
COSM4772410	c.6047A>G	p.H2016R	Substitution - Missense	Stomach
COSM144213	c.5269G>T	p.E1757*	Substitution - Nonsense	Central_nervous_system
COSM5444772	c.2375C>G	p.T792S	Substitution - Missense	Liver
COSM4589545	c.4377_4379delGGA	p.E1464delE	Deletion - In frame	Large_intestine
COSM4968068	c.6757G>T	p.E2253*	Substitution - Nonsense	Adrenal_gland
COSM1283598	c.6563G>A	p.R2188Q	Substitution - Missense	Autonomic_ganglia
COSM1315701	c.3955C>G	p.Q1319E	Substitution - Missense	Urinary_tract
COSM1125485	c.2536G>T	p.D846Y	Substitution - Missense	Endometrium
COSM1716899	c.1339G>A	p.E447K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4385433	c.1090G>A	p.A364T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1125465	c.3512G>T	p.R1171I	Substitution - Missense	Endometrium
COSM4851342	c.1493G>C	p.R498T	Substitution - Missense	Cervix
COSM5758213	c.3079C>G	p.H1027D	Substitution - Missense	Bone
COSM5880326	c.?	p.H2254R	Substitution - Missense	Central_nervous_system
COSM5945528	c.6871A>G	p.I2291V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4993577	c.7412C>T	p.P2471L	Substitution - Missense	Skin
COSM1740806	c.736C>T	p.R246C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1125436	c.4450C>A	p.L1484I	Substitution - Missense	Endometrium
COSM3965534	c.6714A>T	p.A2238A	Substitution - coding silent	Lung
COSM250048	c.1660_1661delCA	p.Q554fs*21	Deletion - Frameshift	Central_nervous_system
COSM4111144	c.3682C>T	p.P1228S	Substitution - Missense	Stomach
COSM1132259	c.660T>G	p.C220W	Substitution - Missense	Prostate
COSM4111148	c.2803G>A	p.E935K	Substitution - Missense	Stomach
COSM1125519	c.126A>C	p.Q42H	Substitution - Missense	Endometrium
COSM5766183	c.5890G>T	p.G1964*	Substitution - Nonsense	Central_nervous_system
COSM4767391	c.6590G>A	p.R2197H	Substitution - Missense	Autonomic_ganglia
COSM3097041	c.4744_4745insA	p.T1582fs*19	Insertion - Frameshift	Large_intestine
COSM1125457	c.3819G>A	p.K1273K	Substitution - coding silent	Endometrium
COSM3845396	c.5718T>C	p.S1906S	Substitution - coding silent	Breast
COSM4920216	c.84A>G	p.E28E	Substitution - coding silent	Liver
COSM488636	c.1624G>C	p.V542L	Substitution - Missense	Kidney
COSM4767395	c.3786_3788delTGA	p.D1264del	Deletion - In frame	Adrenal_gland
COSM757491	c.2058G>T	p.K686N	Substitution - Missense	Lung
COSM1716724	c.6336_6339delATTT	p.F2113fs*9	Deletion - Frameshift	Central_nervous_system
COSM5945692	c.?	p.K971fs*?	Frameshift	Central_nervous_system
COSM144227	c.6406G>A	p.D2136N	Substitution - Missense	Central_nervous_system
COSM4385429	c.1273A>C	p.K425Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4970242	c.1352_1353insT	p.L452fs*12	Insertion - Frameshift	Central_nervous_system
COSM3097150	c.1691A>G	p.N564S	Substitution - Missense	Central_nervous_system
COSM4664638	c.728G>A	p.C243Y	Substitution - Missense	Large_intestine
COSM3424957	c.4994G>T	p.R1665I	Substitution - Missense	Large_intestine
COSM5413126	c.2787G>A	p.Q929Q	Substitution - coding silent	Skin
COSM85818	c.6235C>T	p.R2079*	Substitution - Nonsense	Pancreas
COSM5930124	c.3983C>T	p.S1328F	Substitution - Missense	Skin
COSM5911092	c.3392G>A	p.R1131K	Substitution - Missense	Skin
COSM144221	c.6331C>T	p.R2111*	Substitution - Nonsense	Central_nervous_system
COSM1716719	c.5803delA	p.K1936fs*19	Deletion - Frameshift	Central_nervous_system
COSM4385411	c.6031G>A	p.A2011T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945717	c.?	p.E935*	Substitution - Nonsense	Central_nervous_system
COSM5938467	c.2080C>T	p.P694S	Substitution - Missense	Skin
COSM5880326	c.?	p.H2254R	Substitution - Missense	Central_nervous_system
COSM4423136	c.4745_4748delCAAA	p.T1582fs*23	Deletion - Frameshift	Central_nervous_system
COSM127403	c.1509A>G	p.Q503Q	Substitution - coding silent	Upper_aerodigestive_tract
COSM3563523	c.1917G>C	p.L639F	Substitution - Missense	Skin
COSM5760539	c.?	p.K202*	Substitution - Nonsense	Central_nervous_system
COSM5413115	c.7170C>G	p.I2390M	Substitution - Missense	Skin
COSM4385431	c.1159A>G	p.T387A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5113742	c.1285A>G	p.T429A	Substitution - Missense	Large_intestine
COSM5945878	c.6375T>A	p.N2125K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1158712	c.2763C>T	p.V921V	Substitution - coding silent	Pancreas
COSM5803849	c.2937A>G	p.E979E	Substitution - coding silent	Liver
COSM1716657	c.2341C>T	p.R781*	Substitution - Nonsense	Central_nervous_system
COSM1636610	c.3788A>G	p.D1263G	Substitution - Missense	Liver
COSM5423740	c.2131C>T	p.P711S	Substitution - Missense	Prostate
COSM488626	c.5707G>A	p.D1903N	Substitution - Missense	Kidney
COSM242455	c.?	p.Y2083C	Substitution - Missense	Central_nervous_system
COSM5732323	c.5807delA	p.K1936fs*19	Deletion - Frameshift	Pancreas
COSM3716551	c.2580G>A	p.M860I	Substitution - Missense	Prostate
COSM5945526	c.7219C>T	p.R2407*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM422483	c.7048C>G	p.L2350V	Substitution - Missense	Urinary_tract
COSM1125515	c.595-1G>T	p.?	Unknown	Endometrium
COSM5762263	c.4125_4125delC	p.S1375fs*115	Deletion - Frameshift	Central_nervous_system
COSM403561	c.7412C>A	p.P2471Q	Substitution - Missense	Lung
COSM757503	c.3911G>T	p.G1304V	Substitution - Missense	Lung
COSM85859	c.4413_4414insG	p.S1472fs*14	Insertion - Frameshift	Pancreas
COSM3914252	c.1727C>T	p.S576L	Substitution - Missense	Skin
COSM1716709	c.5104_5107delGAAA	p.E1702fs*22	Deletion - Frameshift	Central_nervous_system
COSM1245827	c.4727G>T	p.C1576F	Substitution - Missense	Oesophagus
COSM3845412	c.1805G>A	p.G602D	Substitution - Missense	Breast
COSM4664638	c.728G>A	p.C243Y	Substitution - Missense	Large_intestine
COSM5698700	c.2217A>G	p.K739K	Substitution - coding silent	Soft_tissue
COSM5725274	c.5921G>A	p.G1974E	Substitution - Missense	Skin
COSM4984823	c.?	p.P2478fs*2	Frameshift	Lung
COSM4603628	c.662+2T>G	p.?	Unknown	Central_nervous_system
COSM1169367	c.3971C>A	p.S1324*	Substitution - Nonsense	Pancreas
COSM4807720	c.4740A>T	p.K1580N	Substitution - Missense	Pancreas
COSM219420	c.6864T>A	p.R2288R	Substitution - coding silent	Breast
COSM5487164	c.4081A>G	p.K1361E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5482482	c.6486A>G	p.V2162V	Substitution - coding silent	Large_intestine
COSM1626134	c.5270A>C	p.E1757A	Substitution - Missense	Liver
COSM1716684	c.3697_3698delTT	p.L1233fs*15	Deletion - Frameshift	Central_nervous_system
COSM3097144	c.1886T>G	p.L629R	Substitution - Missense	Large_intestine
COSM3973924	c.3667G>T	p.E1223*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1716690	c.4025delG	p.H1343fs*3	Deletion - Frameshift	Central_nervous_system
COSM3973892	c.6217+2T>C	p.?	Unknown	Central_nervous_system
COSM4425091	c.6147G>C	p.L2049F	Substitution - Missense	Oesophagus
COSM1716604	c.496delC	p.H166fs*4	Deletion - Frameshift	Central_nervous_system
COSM1125453	c.4047C>T	p.D1349D	Substitution - coding silent	Endometrium
COSM5414253	c.1669G>A	p.E557K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716936	c.7094C>T	p.S2365L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4664636	c.1115A>C	p.K372T	Substitution - Missense	Large_intestine
COSM488630	c.5081A>G	p.N1694S	Substitution - Missense	Kidney
COSM757511	c.5807A>C	p.K1936T	Substitution - Missense	Lung
COSM3390784	c.5911G>A	p.D1971N	Substitution - Missense	Pancreas
COSM5100264	c.5090G>A	p.S1697N	Substitution - Missense	Large_intestine
COSM1125410	c.6010G>T	p.D2004Y	Substitution - Missense	Large_intestine
COSM1644080	c.44T>G	p.V15G	Substitution - Missense	Stomach
COSM4603629	c.4957-2A>G	p.?	Unknown	Central_nervous_system
COSM4767442	c.4504G>A	p.E1502K	Substitution - Missense	Biliary_tract
COSM4603627	c.5449-2A>G	p.?	Unknown	Central_nervous_system
COSM5366840	c.2519G>T	p.R840I	Substitution - Missense	Large_intestine
COSM1716655	c.2329_2335delGGAAAAA	p.K778fs*23	Deletion - Frameshift	Central_nervous_system
COSM5760572	c.595-1G>C	p.?	Unknown	Central_nervous_system
COSM3965538	c.315A>G	p.E105E	Substitution - coding silent	Lung
COSM5120258	c.1753G>A	p.E585K	Substitution - Missense	Large_intestine
COSM3097156	c.1529C>T	p.S510F	Substitution - Missense	Upper_aerodigestive_tract
COSM1716639	c.1597G>T	p.E533*	Substitution - Nonsense	Central_nervous_system
COSM219420	c.6864T>A	p.R2288R	Substitution - coding silent	Breast
COSM1580373	c.5956+2T>A	p.?	Unknown	Central_nervous_system
COSM5160376	c.3786T>C	p.D1262D	Substitution - coding silent	Large_intestine
COSM3563525	c.1357G>A	p.E453K	Substitution - Missense	Skin
COSM4111138	c.4094A>C	p.E1365A	Substitution - Missense	Stomach
COSM144218	c.4179_4182delTAGT	p.S1394fs*95	Deletion - Frameshift	Central_nervous_system
COSM144223	c.4276C>T	p.R1426*	Substitution - Nonsense	Central_nervous_system
COSM1469486	c.2209A>G	p.I737V	Substitution - Missense	Large_intestine
COSM3096916	c.7421G>A	p.R2474H	Substitution - Missense	Large_intestine
COSM4838323	c.5288A>T	p.N1763I	Substitution - Missense	Cervix
COSM5082213	c.2312C>T	p.A771V	Substitution - Missense	Large_intestine
COSM458082	c.1205T>A	p.I402N	Substitution - Missense	Breast
COSM4111130	c.7461C>T	p.S2487S	Substitution - coding silent	Stomach
COSM4111168	c.546A>G	p.Q182Q	Substitution - coding silent	Stomach
COSM5880301	c.?	p.R2197L	Substitution - Missense	Central_nervous_system
COSM1716695	c.4159delT	p.S1387fs*103	Deletion - Frameshift	Central_nervous_system
COSM1626230	c.4014_4015delTA	p.H1338fs*11	Deletion - Frameshift	Central_nervous_system
COSM1716676	c.3146delT	p.I1049fs*69	Deletion - Frameshift	Central_nervous_system
COSM144223	c.4276C>T	p.R1426*	Substitution - Nonsense	Central_nervous_system
COSM230827	c.6301G>A	p.E2101K	Substitution - Missense	Skin
COSM5575916	c.3848A>G	p.N1283S	Substitution - Missense	Stomach
COSM1125442	c.4336G>T	p.E1446*	Substitution - Nonsense	Endometrium
COSM5418190	c.5411C>T	p.A1804V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4169856	c.?	p.T1582fs*24	Unknown	Adrenal_gland
COSM3563515	c.2774C>T	p.S925F	Substitution - Missense	Skin
COSM390347	c.2630A>T	p.D877V	Substitution - Missense	Lung
COSM1716680	c.3315delA	p.D1106fs*12	Deletion - Frameshift	Central_nervous_system
COSM4886389	c.3028G>T	p.E1010*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM4880913	c.5771C>T	p.S1924F	Substitution - Missense	Prostate
COSM4664626	c.4670T>C	p.V1557A	Substitution - Missense	Large_intestine
COSM1125507	c.1346C>T	p.P449L	Substitution - Missense	Endometrium
COSM3563505	c.3875C>T	p.S1292L	Substitution - Missense	Skin
COSM1125493	c.2061G>A	p.E687E	Substitution - coding silent	Endometrium
COSM2151015	c.529C>T	p.Q177*	Substitution - Nonsense	Central_nervous_system
COSM3097140	c.1920T>C	p.V640V	Substitution - coding silent	Large_intestine
COSM3396429	c.1438A>G	p.T480A	Substitution - Missense	Prostate
COSM3424965	c.1331G>A	p.R444Q	Substitution - Missense	Large_intestine
COSM5667888	c.2015C>G	p.P672R	Substitution - Missense	Soft_tissue
COSM4635824	c.7420C>T	p.R2474C	Substitution - Missense	Large_intestine
COSM5945702	c.?	p.S1387*	Substitution - Nonsense	Central_nervous_system
COSM5752543	c.7072-1G>T	p.?	Unknown	Breast
COSM5444772	c.2375C>G	p.T792S	Substitution - Missense	Oesophagus
COSM4411369	c.165T>A	p.D55E	Substitution - Missense	Kidney
COSM1716606	c.549delA	p.D184fs*22	Deletion - Frameshift	Central_nervous_system
COSM5596338	c.5379C>T	p.T1793T	Substitution - coding silent	Skin
COSM85985	c.794G>A	p.C265Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144223	c.4276C>T	p.R1426*	Substitution - Nonsense	Central_nervous_system
COSM1716646	c.2169_2170delGA	p.E723fs*9	Deletion - Frameshift	Central_nervous_system
COSM5047563	c.4441C>T	p.R1481W	Substitution - Missense	Oesophagus
COSM5655177	c.7248G>T	p.Q2416H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM85819	c.5620C>T	p.Q1874*	Substitution - Nonsense	Pancreas
COSM248872	c.1256C>T	p.A419V	Substitution - Missense	Pancreas
COSM3973930	c.1960C>A	p.R654R	Substitution - coding silent	Central_nervous_system
COSM5105795	c.5268T>C	p.I1756I	Substitution - coding silent	Large_intestine
COSM1125509	c.1252C>T	p.R418*	Substitution - Nonsense	Central_nervous_system
COSM1716663	c.2422C>T	p.R808*	Substitution - Nonsense	Central_nervous_system
COSM1716692	c.4113_4116delAAGA	p.K1373fs*1	Deletion - Frameshift	Central_nervous_system
COSM5665521	c.3654G>T	p.E1218D	Substitution - Missense	Soft_tissue
COSM3973904	c.5351T>G	p.I1784S	Substitution - Missense	Central_nervous_system
COSM4767392	c.6825G>A	p.W2275*	Substitution - Nonsense	Autonomic_ganglia
COSM5450668	c.7112C>T	p.A2371V	Substitution - Missense	Large_intestine
COSM3096934	c.7269G>A	p.Q2423Q	Substitution - coding silent	Large_intestine
COSM144218	c.4179_4182delTAGT	p.S1394fs*95	Deletion - Frameshift	Central_nervous_system
COSM144223	c.4276C>T	p.R1426*	Substitution - Nonsense	Endometrium
COSM243135	c.2452G>C	p.D818H	Substitution - Missense	Prostate
COSM458069	c.6589C>T	p.R2197C	Substitution - Missense	Autonomic_ganglia
COSM3682172	c.5847C>A	p.D1949E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716608	c.561T>G	p.Y187*	Substitution - Nonsense	Central_nervous_system
COSM1125517	c.233G>A	p.R78Q	Substitution - Missense	Endometrium
COSM6005260	c.996T>C	p.D332D	Substitution - coding silent	Prostate
COSM3973898	c.6055A>G	p.K2019E	Substitution - Missense	Central_nervous_system
COSM462450	c.?	p.?	Unknown	Central_nervous_system
COSM5809265	c.2266G>T	p.E756*	Substitution - Nonsense	Liver
COSM1716237	c.2971G>A	p.E991K	Substitution - Missense	Central_nervous_system
COSM5570613	c.3543C>G	p.V1181V	Substitution - coding silent	Prostate
COSM4111146	c.3464C>G	p.S1155*	Substitution - Nonsense	Stomach
COSM4969619	c.1077_1080delGATT	p.I360fs*6	Deletion - Frameshift	Central_nervous_system
COSM5711765	c.6675G>T	p.K2225N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4664632	c.2581G>C	p.D861H	Substitution - Missense	Large_intestine
COSM5557848	c.7076A>T	p.K2359M	Substitution - Missense	Prostate
COSM144223	c.4276C>T	p.R1426*	Substitution - Nonsense	Central_nervous_system
COSM1716661	c.2390delC	p.S797fs*1	Deletion - Frameshift	Central_nervous_system
COSM3973890	c.6281C>G	p.S2094*	Substitution - Nonsense	Central_nervous_system
COSM144213	c.5269G>T	p.E1757*	Substitution - Nonsense	Bone
COSM462450	c.?	p.?	Unknown	Central_nervous_system
COSM1469484	c.2435C>A	p.S812Y	Substitution - Missense	Large_intestine
COSM458072	c.4788G>A	p.M1596I	Substitution - Missense	Breast
COSM5020371	c.4659T>C	p.H1553H	Substitution - coding silent	Soft_tissue
COSM1125392	c.6815A>G	p.K2272R	Substitution - Missense	Endometrium
COSM1716625	c.1067_1068insA	p.L359fs*3	Insertion - Frameshift	Central_nervous_system
COSM3973900	c.5786+2T>C	p.?	Unknown	Central_nervous_system
COSM4664628	c.4380A>G	p.E1460E	Substitution - coding silent	Large_intestine
COSM4766083	c.?	p.K626fs*23	Frameshift	Central_nervous_system
COSM3845394	c.6649G>A	p.D2217N	Substitution - Missense	Breast
COSM5757752	c.3145delA	p.I1049fs*1	Deletion - Frameshift	Bone
COSM4654573	c.1225T>C	p.L409L	Substitution - coding silent	Large_intestine
COSM13839	c.4192G>A	p.D1398N	Substitution - Missense	Skin
COSM3720930	c.2101C>T	p.R701C	Substitution - Missense	Upper_aerodigestive_tract
COSM5885077	c.?	p.G75*	Substitution - Nonsense	Soft_tissue
COSM5587258	c.4309G>A	p.E1437K	Substitution - Missense	Skin
COSM1125473	c.3000A>C	p.K1000N	Substitution - Missense	Endometrium
COSM757489	c.1822G>T	p.V608F	Substitution - Missense	Lung
COSM1125418	c.5407C>T	p.R1803C	Substitution - Missense	Endometrium
COSM1469474	c.2978delA	p.K993fs*10	Deletion - Frameshift	Large_intestine
COSM2151157	c.3510A>G	p.Q1170Q	Substitution - coding silent	Central_nervous_system
COSM5945713	c.?	p.?	Unknown	Central_nervous_system
COSM4884159	c.5822G>T	p.S1941I	Substitution - Missense	Upper_aerodigestive_tract
COSM3563499	c.6054G>A	p.G2018G	Substitution - coding silent	Skin
COSM4664611	c.7143G>A	p.E2381E	Substitution - coding silent	Large_intestine
COSM3845406	c.2266G>A	p.E756K	Substitution - Missense	Breast
COSM4766082	c.?	p.K1045fs*1	Frameshift	Central_nervous_system
COSM5878645	c.1-?_6326+?del	p.?	Unknown	Central_nervous_system
COSM5433743	c.5787-5_5787-4insGTTT	p.?	Unknown	Oesophagus
COSM85825	c.6829G>A	p.E2277K	Substitution - Missense	Pancreas
COSM3973908	c.5224A>G	p.R1742G	Substitution - Missense	Central_nervous_system
COSM5781726	c.676G>A	p.G226S	Substitution - Missense	Breast
COSM3563493	c.6997G>A	p.E2333K	Substitution - Missense	Skin
COSM3097098	c.2607G>T	p.K869N	Substitution - Missense	Large_intestine
COSM1125451	c.4148A>C	p.D1383A	Substitution - Missense	Endometrium
COSM1125406	c.6137C>A	p.S2046Y	Substitution - Missense	Endometrium
COSM5977572	c.1868A>G	p.K623R	Substitution - Missense	Upper_aerodigestive_tract
COSM13840	c.3523A>G	p.K1175E	Substitution - Missense	Breast
COSM5762260	c.6699+1G>A	p.?	Unknown	Central_nervous_system
COSM3424963	c.1729A>C	p.K577Q	Substitution - Missense	Large_intestine
COSM1716631	c.1074_1077delACTG	p.I360fs*6	Deletion - Frameshift	Central_nervous_system
COSM1125469	c.3137G>T	p.S1046I	Substitution - Missense	Endometrium
COSM4967885	c.2431C>T	p.Q811*	Substitution - Nonsense	Bone
COSM1716712	c.5240C>A	p.T1747K	Substitution - Missense	Central_nervous_system
COSM309390	c.7057A>G	p.I2353V	Substitution - Missense	Soft_tissue
COSM3694719	c.737G>A	p.R246H	Substitution - Missense	Stomach
COSM1315699	c.5071C>G	p.Q1691E	Substitution - Missense	Urinary_tract
COSM5944161	c.6332G>A	p.R2111Q	Substitution - Missense	Bone
COSM1735832	c.1079_1082delTTGA	p.I360fs*6	Deletion - Frameshift	Central_nervous_system
COSM3563513	c.2991C>T	p.D997D	Substitution - coding silent	Skin
COSM5670764	c.4863G>T	p.T1621T	Substitution - coding silent	Soft_tissue
COSM1497323	c.2304G>C	p.K768N	Substitution - Missense	Kidney
COSM1497325	c.5562A>G	p.L1854L	Substitution - coding silent	Kidney
COSM1716614	c.663-1G>C	p.?	Unknown	Central_nervous_system
COSM85822	c.3824_3840del17	p.M1275fs*7	Deletion - Frameshift	Pancreas
COSM3973873	c.7206C>A	p.I2402I	Substitution - coding silent	Central_nervous_system
COSM6018600	c.6083G>A	p.R2028Q	Substitution - Missense	Skin
COSM3973904	c.5351T>G	p.I1784S	Substitution - Missense	Central_nervous_system
COSM1716722	c.5956+3_5956+6delGAGT	p.?	Unknown	Central_nervous_system
COSM4997156	c.3280T>C	p.C1094R	Substitution - Missense	Upper_aerodigestive_tract
COSM4005178	c.5725G>A	p.E1909K	Substitution - Missense	Urinary_tract
COSM1169496	c.524G>T	p.G175V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3097102	c.2556T>A	p.D852E	Substitution - Missense	Large_intestine
COSM1125426	c.4914T>C	p.F1638F	Substitution - coding silent	Endometrium
COSM1125414	c.5464G>A	p.A1822T	Substitution - Missense	Endometrium
COSM1716668	c.2809A>T	p.R937*	Substitution - Nonsense	Central_nervous_system
COSM1125483	c.2559G>T	p.E853D	Substitution - Missense	Endometrium
COSM144215	c.5215C>T	p.R1739*	Substitution - Nonsense	Central_nervous_system
COSM1716733	c.6812_6815delGAAA	p.R2271fs*14	Deletion - Frameshift	Central_nervous_system
COSM144223	c.4276C>T	p.R1426*	Substitution - Nonsense	Central_nervous_system
COSM4969815	c.3006A>C	p.V1002V	Substitution - coding silent	Central_nervous_system
COSM5945532	c.2818G>A	p.A940T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5757573	c.485A>G	p.E162G	Substitution - Missense	Large_intestine
COSM1716670	c.2979_2980insA	p.P995fs*5	Insertion - Frameshift	Central_nervous_system
COSM5127726	c.6064C>A	p.L2022I	Substitution - Missense	Large_intestine
COSM4111142	c.3881A>G	p.D1294G	Substitution - Missense	Stomach
COSM5020986	c.4368G>A	p.E1456E	Substitution - coding silent	Soft_tissue
COSM1736129	c.1783C>T	p.L595F	Substitution - Missense	Central_nervous_system
COSM1644078	c.527_528insC	p.Q176fs*13	Insertion - Frameshift	Stomach
COSM3973952	c.595-2A>C	p.?	Unknown	Central_nervous_system
COSM5945699	c.?	p.D789V	Substitution - Missense	Central_nervous_system
COSM5663019	c.3200C>A	p.S1067*	Substitution - Nonsense	Soft_tissue
COSM4111132	c.6503A>G	p.Q2168R	Substitution - Missense	Stomach
COSM4852168	c.5413C>A	p.H1805N	Substitution - Missense	Cervix
COSM4993587	c.748C>T	p.R250*	Substitution - Nonsense	Skin
COSM4993585	c.1051G>A	p.E351K	Substitution - Missense	Skin
COSM127401	c.5538C>G	p.L1846L	Substitution - coding silent	Upper_aerodigestive_tract
COSM3973916	c.4808A>G	p.Q1603R	Substitution - Missense	Central_nervous_system
COSM1636612	c.2346_2347delAA	p.S783fs*8	Deletion - Frameshift	Liver
COSM250047	c.3904_3905insA	p.R1302fs*7	Insertion - Frameshift	Central_nervous_system
COSM3424965	c.1331G>A	p.R444Q	Substitution - Missense	Skin
COSM4111136	c.5203A>G	p.M1735V	Substitution - Missense	Stomach
COSM5413124	c.3973G>A	p.D1325N	Substitution - Missense	Skin
COSM5418888	c.715T>C	p.F239L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM328876	c.5972C>T	p.S1991F	Substitution - Missense	Liver
COSM1716899	c.1339G>A	p.E447K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3424959	c.3683C>A	p.P1228H	Substitution - Missense	Large_intestine
COSM144226	c.3904_3904delA	p.R1302fs*44	Deletion - Frameshift	Central_nervous_system
COSM3563529	c.1001C>T	p.S334F	Substitution - Missense	Skin
COSM4111160	c.1033G>A	p.A345T	Substitution - Missense	Biliary_tract
COSM5762572	c.4215-1G>A	p.?	Unknown	Pancreas
COSM5880301	c.?	p.R2197L	Substitution - Missense	Central_nervous_system
COSM3737110	c.485-6delT	p.?	Unknown	Soft_tissue
COSM1736745	c.332A>G	p.N111S	Substitution - Missense	Central_nervous_system
COSM4603624	c.4053_4053delA	p.E1351fs*24	Deletion - Frameshift	Central_nervous_system
COSM5757571	c.1961G>A	p.R654Q	Substitution - Missense	Large_intestine
COSM1716623	c.874C>T	p.Q292*	Substitution - Nonsense	Central_nervous_system
COSM1735942	c.4746_4749delAAAG	p.K1583fs*22	Deletion - Frameshift	Central_nervous_system
COSM85987	c.6083G>C	p.R2028P	Substitution - Missense	Breast
COSM1125418	c.5407C>T	p.R1803C	Substitution - Missense	Bone
COSM4845260	c.2075C>T	p.S692L	Substitution - Missense	Cervix
COSM85991	c.5567-3C>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1716627	c.1074delA	p.K358fs*2	Deletion - Frameshift	Central_nervous_system
COSM1735817	c.818_819insT	p.L273fs*9	Insertion - Frameshift	Central_nervous_system
COSM2151015	c.529C>T	p.Q177*	Substitution - Nonsense	Central_nervous_system
COSM403990	c.979G>T	p.E327*	Substitution - Nonsense	Lung
COSM1469490	c.890_892delAGA	p.K297delK	Deletion - In frame	Large_intestine
COSM85990	c.7049_7049delT	p.E2351fs*3	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM400732	c.2295T>C	p.Y765Y	Substitution - coding silent	Lung
COSM488624	c.6555G>A	p.L2185L	Substitution - coding silent	Kidney
COSM5629210	c.5179G>T	p.E1727*	Substitution - Nonsense	Oesophagus
COSM116914	c.6869A>G	p.N2290S	Substitution - Missense	Ovary
COSM4856129	c.6327-1G>A	p.?	Unknown	Cervix
COSM1626136	c.4721G>A	p.C1574Y	Substitution - Missense	Liver
COSM5760276	c.3069A>C	p.E1023D	Substitution - Missense	Bone
COSM5031864	c.1599G>C	p.E533D	Substitution - Missense	Pancreas
COSM1716702	c.4540C>T	p.R1514*	Substitution - Nonsense	Central_nervous_system
COSM96933	c.6457C>T	p.R2153C	Substitution - Missense	Central_nervous_system
COSM488640	c.266A>T	p.Y89F	Substitution - Missense	Kidney
COSM5417530	c.1050A>C	p.K350N	Substitution - Missense	Endometrium
COSM5945695	c.?	p.R2197C	Substitution - Missense	Central_nervous_system
COSM1716644	c.1990_1991ins62	p.L664fs*1	Insertion - Frameshift	Central_nervous_system
COSM613874	c.7064C>T	p.S2355L	Substitution - Missense	Large_intestine
COSM5081223	c.5698-1G>C	p.?	Unknown	Large_intestine
COSM1626134	c.5270A>C	p.E1757A	Substitution - Missense	Liver
COSM1125420	c.5375C>A	p.S1792Y	Substitution - Missense	Endometrium
COSM4111160	c.1033G>A	p.A345T	Substitution - Missense	Pancreas
COSM4664617	c.6276A>C	p.A2092A	Substitution - coding silent	Large_intestine
COSM1626234	c.3052_3053insGAAA	p.K1018fs*5	Insertion - Frameshift	Central_nervous_system
COSM1125401	c.6359G>A	p.G2120E	Substitution - Missense	Endometrium
COSM3845398	c.4564G>T	p.E1522*	Substitution - Nonsense	Breast
COSM5083735	c.4152_4153insT	p.Q1385fs*6	Insertion - Frameshift	Large_intestine
COSM757515	c.7464A>T	p.Q2488H	Substitution - Missense	Lung
COSM1716698	c.4307delG	p.S1436fs*54	Deletion - Frameshift	Central_nervous_system
COSM1716733	c.6812_6815delGAAA	p.R2271fs*14	Deletion - Frameshift	Central_nervous_system
COSM5762256	c.788G>A	p.W263*	Substitution - Nonsense	Central_nervous_system
COSM1125479	c.2696C>T	p.T899M	Substitution - Missense	Endometrium
COSM4845295	c.4560G>C	p.V1520V	Substitution - coding silent	Cervix
COSM1469472	c.3392G>T	p.R1131I	Substitution - Missense	Large_intestine
COSM212897	c.6895C>T	p.P2299S	Substitution - Missense	Breast
COSM4005180	c.5485C>G	p.P1829A	Substitution - Missense	Urinary_tract
COSM5945712	c.?	p.R1426*	Substitution - Nonsense	Central_nervous_system
COSM4420365	c.3710C>G	p.S1237*	Substitution - Nonsense	Central_nervous_system
COSM1184212	c.6076A>C	p.I2026L	Substitution - Missense	Large_intestine
COSM1644417	c.3608C>T	p.S1203L	Substitution - Missense	Salivary_gland
COSM85980	c.521G>A	p.C174Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4167422	c.2767A>T	p.K923*	Substitution - Nonsense	Central_nervous_system
COSM5413119	c.5299G>A	p.E1767K	Substitution - Missense	Skin
COSM250044	c.6849+1G>T	p.?	Unknown	Central_nervous_system
COSM1283592	c.2968G>T	p.E990*	Substitution - Nonsense	Autonomic_ganglia
COSM1716733	c.6812_6815delGAAA	p.R2271fs*14	Deletion - Frameshift	Central_nervous_system
COSM4167467	c.2612C>G	p.S871*	Substitution - Nonsense	Central_nervous_system
COSM3097100	c.2598A>C	p.K866N	Substitution - Missense	Large_intestine
COSM1683578	c.477_478insC	p.R160fs*29	Insertion - Frameshift	Large_intestine
COSM3973944	c.665G>A	p.W222*	Substitution - Nonsense	Central_nervous_system
COSM1315703	c.3182C>G	p.S1061C	Substitution - Missense	Urinary_tract
COSM3406599	c.5219C>G	p.S1740*	Substitution - Nonsense	Central_nervous_system
COSM757513	c.5891G>C	p.G1964A	Substitution - Missense	Lung
COSM3406603	c.4026G>A	p.R1342R	Substitution - coding silent	Central_nervous_system
COSM1716674	c.3133_3137delAAAAG	p.K1045fs*1	Deletion - Frameshift	Central_nervous_system
COSM85981	c.236C>G	p.S79*	Substitution - Nonsense	Oesophagus
COSM458080	c.1967C>T	p.S656F	Substitution - Missense	Skin
COSM1716712	c.5240C>A	p.T1747K	Substitution - Missense	Central_nervous_system
COSM1735852	c.612delC	p.Y204fs*1	Deletion - Frameshift	Central_nervous_system
COSM3973938	c.1051G>T	p.E351*	Substitution - Nonsense	Central_nervous_system
COSM4603625	c.?	p.E813*	Substitution - Nonsense	Central_nervous_system
COSM250044	c.6849+1G>T	p.?	Unknown	Central_nervous_system
COSM1125509	c.1252C>T	p.R418*	Substitution - Nonsense	Skin
COSM1716629	c.1075_1076insA	p.L359fs*3	Insertion - Frameshift	Central_nervous_system
COSM1716705	c.4749_4752delGAAA	p.K1583fs*22	Deletion - Frameshift	Central_nervous_system
COSM5885078	c.?	p.E1509_R1510>*	Complex - deletion inframe	Soft_tissue
COSM3097197	c.460A>G	p.T154A	Substitution - Missense	Upper_aerodigestive_tract
COSM3563521	c.1921G>A	p.E641K	Substitution - Missense	Skin
COSM1125390	c.7090C>A	p.L2364I	Substitution - Missense	Endometrium
COSM4970182	c.980_984delAAGAA	p.K329fs*3	Deletion - Frameshift	Central_nervous_system
COSM1125503	c.1584T>G	p.I528M	Substitution - Missense	Endometrium
COSM488628	c.5226G>T	p.R1742S	Substitution - Missense	Kidney
COSM1125459	c.3703C>T	p.L1235L	Substitution - coding silent	Endometrium
COSM1132261	c.4667T>C	p.M1556T	Substitution - Missense	Prostate
COSM13839	c.4192G>A	p.D1398N	Substitution - Missense	Skin
COSM1169367	c.3971C>A	p.S1324*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5985491	c.5845G>T	p.D1949Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1316523	c.7037G>T	p.R2346M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4664640	c.672G>A	p.A224A	Substitution - coding silent	Large_intestine
COSM1469482	c.2518_2519insA	p.R840fs*9	Insertion - Frameshift	Stomach
COSM1685042	c.5170C>A	p.L1724I	Substitution - Missense	Lung
COSM13839	c.4192G>A	p.D1398N	Substitution - Missense	Skin
COSM1469462	c.4107A>G	p.R1369R	Substitution - coding silent	Large_intestine
COSM4771549	c.4597A>G	p.I1533V	Substitution - Missense	Breast
COSM1125511	c.1095C>A	p.N365K	Substitution - Missense	Endometrium
COSM4971829	c.1598_1647del50	p.T534fs*3	Deletion - Frameshift	Central_nervous_system
COSM3097076	c.3505_3507delAAG	p.K1169delK	Deletion - In frame	Upper_aerodigestive_tract
COSM5766185	c.1133_1134insA	p.D379fs*2	Insertion - Frameshift	Central_nervous_system
COSM144222	c.4766G>T	p.G1589V	Substitution - Missense	Central_nervous_system
COSM3424967	c.536A>G	p.N179S	Substitution - Missense	Large_intestine
COSM4969409	c.4121-33_4141del54	p.?	Unknown	Central_nervous_system
COSM1283596	c.6049T>C	p.S2017P	Substitution - Missense	Autonomic_ganglia
COSM3563495	c.6203C>T	p.P2068L	Substitution - Missense	Skin
COSM4589545	c.4377_4379delGGA	p.E1464delE	Deletion - In frame	Bone
COSM1125501	c.1639G>A	p.D547N	Substitution - Missense	Endometrium
COSM1716619	c.801_807delTTGTCAC	p.C268fs*18	Deletion - Frameshift	Central_nervous_system
COSM5731842	c.2469_2470insA	p.E824fs*7	Insertion - Frameshift	Soft_tissue
COSM4609548	c.5787-1G>T	p.?	Unknown	Adrenal_gland
COSM85820	c.5932_5932delT	p.S1978fs*4	Deletion - Frameshift	Pancreas
COSM96933	c.6457C>T	p.R2153C	Substitution - Missense	Central_nervous_system
COSM1125416	c.5427G>A	p.E1809E	Substitution - coding silent	Endometrium
COSM458074	c.4152T>A	p.F1384L	Substitution - Missense	Breast
COSM4423063	c.5401A>G	p.K1801E	Substitution - Missense	Central_nervous_system
COSM757501	c.3403A>T	p.R1135W	Substitution - Missense	Lung
COSM458078	c.2686G>C	p.D896H	Substitution - Missense	Breast
COSM85821	c.6338_6341delTTAT	p.F2113fs*9	Deletion - Frameshift	Soft_tissue
COSM5752603	c.7108C>T	p.Q2370*	Substitution - Nonsense	Breast
COSM1125461	c.3677T>C	p.I1226T	Substitution - Missense	Endometrium
COSM85979	c.6701A>G	p.D2234G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716682	c.3345T>G	p.Y1115*	Substitution - Nonsense	Central_nervous_system
COSM3973918	c.4700-1G>C	p.?	Unknown	Central_nervous_system
COSM5517538	c.4680delG	p.K1561fs*5	Deletion - Frameshift	Biliary_tract
COSM5587260	c.3880G>A	p.D1294N	Substitution - Missense	Skin
COSM5909941	c.7243C>T	p.Q2415*	Substitution - Nonsense	Skin
COSM5766186	c.2469_2469delA	p.E824fs*2	Deletion - Frameshift	Central_nervous_system
COSM5945692	c.?	p.K971fs*?	Frameshift	Central_nervous_system
COSM1715181	c.1885C>T	p.L629F	Substitution - Missense	Skin
COSM144218	c.4179_4182delTAGT	p.S1394fs*95	Deletion - Frameshift	Central_nervous_system
COSM4111162	c.830T>C	p.V277A	Substitution - Missense	Stomach
COSM3973912	c.4838T>A	p.L1613*	Substitution - Nonsense	Central_nervous_system
COSM4111164	c.826T>G	p.L276V	Substitution - Missense	Stomach
COSM85818	c.6235C>T	p.R2079*	Substitution - Nonsense	Endometrium
COSM250048	c.1660_1661delCA	p.Q554fs*21	Deletion - Frameshift	Central_nervous_system
COSM1716729	c.6565G>C	p.V2189L	Substitution - Missense	Central_nervous_system
COSM318865	c.3205G>T	p.G1069W	Substitution - Missense	Lung
COSM5954777	c.4821T>C	p.F1607F	Substitution - coding silent	Upper_aerodigestive_tract
COSM96935	c.789G>A	p.W263*	Substitution - Nonsense	Central_nervous_system
COSM96934	c.5408G>A	p.R1803H	Substitution - Missense	Central_nervous_system
COSM1716717	c.5410G>C	p.A1804P	Substitution - Missense	Central_nervous_system
COSM3682174	c.2540T>A	p.F847Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1469490	c.890_892delAGA	p.K297delK	Deletion - In frame	Large_intestine
COSM5030109	c.1013C>T	p.S338F	Substitution - Missense	Bone
COSM5817931	c.5669A>T	p.Q1890L	Substitution - Missense	Liver
COSM1125424	c.5024A>G	p.D1675G	Substitution - Missense	Endometrium
COSM5878646	c.663-?_3736+?del	p.?	Unknown	Central_nervous_system
COSM144220	c.6761A>G	p.H2254R	Substitution - Missense	Central_nervous_system
COSM238909	c.3138_3139insA	p.I1049fs*4	Insertion - Frameshift	Prostate
COSM4385415	c.5773G>A	p.D1925N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3097144	c.1886T>G	p.L629R	Substitution - Missense	Large_intestine
COSM4385413	c.5963C>A	p.A1988D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4423636	c.6620T>G	p.L2207R	Substitution - Missense	Central_nervous_system
COSM5945693	c.?	p.R808*	Substitution - Nonsense	Central_nervous_system
COSM96935	c.789G>A	p.W263*	Substitution - Nonsense	Central_nervous_system
COSM144224	c.4745_4746insA	p.K1584fs*17	Insertion - Frameshift	Central_nervous_system
COSM1626142	c.1907A>C	p.N636T	Substitution - Missense	Liver
COSM1716665	c.2627delC	p.S876fs*29	Deletion - Frameshift	Central_nervous_system
COSM5064887	c.4534C>T	p.R1512C	Substitution - Missense	Stomach
COSM3973875	c.6607G>T	p.E2203*	Substitution - Nonsense	Central_nervous_system
COSM2149141	c.6003delG	p.W2001fs*14	Deletion - Frameshift	Central_nervous_system
COSM4111150	c.2729A>C	p.K910T	Substitution - Missense	Stomach
COSM3973885	c.6456T>G	p.Y2152*	Substitution - Nonsense	Central_nervous_system
COSM1125440	c.4387G>A	p.E1463K	Substitution - Missense	Endometrium
COSM3357465	c.5711A>T	p.E1904V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945700	c.?	p.S1418fs*?	Frameshift	Central_nervous_system
COSM144219	c.5178_5179insA	p.E1727fs*7	Insertion - Frameshift	Central_nervous_system
COSM13837	c.2719C>T	p.R907*	Substitution - Nonsense	Central_nervous_system
COSM5945698	c.?	p.L1602*	Substitution - Nonsense	Central_nervous_system
COSM26976	c.4957G>C	p.V1653L	Substitution - Missense	Kidney
COSM1626239	c.662G>A	p.R221K	Substitution - Missense	Central_nervous_system
COSM5417531	c.443G>A	p.S148N	Substitution - Missense	Endometrium
COSM1125471	c.3070G>T	p.E1024*	Substitution - Nonsense	Endometrium
COSM5885146	c.5898_5899delTG	p.E1967fs*5	Deletion - Frameshift	Urinary_tract
COSM1125396	c.6696A>G	p.P2232P	Substitution - coding silent	Endometrium
COSM13840	c.3523A>G	p.K1175E	Substitution - Missense	Breast
COSM3973940	c.787T>C	p.W263R	Substitution - Missense	Central_nervous_system
COSM4382096	c.4557+1G>A	p.?	Unknown	Large_intestine
COSM3563501	c.4459G>A	p.D1487N	Substitution - Missense	Skin
COSM4843593	c.471C>T	p.L157L	Substitution - coding silent	Cervix
COSM1682739	c.6938T>G	p.L2313W	Substitution - Missense	Large_intestine
COSM4423479	c.594+1G>A	p.?	Unknown	Central_nervous_system
COSM85824	c.5364G>T	p.Q1788H	Substitution - Missense	Pancreas
COSM5766188	c.6719T>G	p.L2240R	Substitution - Missense	Central_nervous_system
COSM4491030	c.3731C>T	p.S1244F	Substitution - Missense	Skin
COSM3694719	c.737G>A	p.R246H	Substitution - Missense	Large_intestine
COSM5945530	c.4922G>A	p.W1641*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4971451	c.6431A>G	p.D2144G	Substitution - Missense	Central_nervous_system
COSM4385417	c.4952T>A	p.L1651H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716727	c.6515A>G	p.E2172G	Substitution - Missense	Central_nervous_system
COSM488622	c.6928C>A	p.P2310T	Substitution - Missense	Kidney
COSM1716663	c.2422C>T	p.R808*	Substitution - Nonsense	Central_nervous_system
COSM2155629	c.5529G>C	p.Q1843H	Substitution - Missense	Central_nervous_system
COSM5824966	c.2821G>T	p.E941*	Substitution - Nonsense	Pancreas
COSM250047	c.3904_3905insA	p.R1302fs*7	Insertion - Frameshift	Central_nervous_system
COSM127402	c.5328C>T	p.F1776F	Substitution - coding silent	Upper_aerodigestive_tract
COSM3563509	c.3789C>A	p.D1263E	Substitution - Missense	Skin
COSM4949849	c.3307A>T	p.K1103*	Substitution - Nonsense	Liver
COSM3973898	c.6055A>G	p.K2019E	Substitution - Missense	Central_nervous_system
COSM5639718	c.3848A>T	p.N1283I	Substitution - Missense	Oesophagus
COSM5702545	c.6574C>T	p.Q2192*	Substitution - Nonsense	Central_nervous_system
COSM1716635	c.1273_1274delAA	p.K425fs*8	Deletion - Frameshift	Central_nervous_system
COSM3973896	c.6080T>C	p.L2027P	Substitution - Missense	Central_nervous_system
COSM4767440	c.7090C>T	p.L2364F	Substitution - Missense	Biliary_tract
COSM4949849	c.3307A>T	p.K1103*	Substitution - Nonsense	Liver
COSM5760573	c.5787-1G>C	p.?	Unknown	Central_nervous_system
COSM3845408	c.2214C>G	p.L738L	Substitution - coding silent	Breast
COSM1125449	c.4259A>C	p.K1420T	Substitution - Missense	Endometrium
COSM13837	c.2719C>T	p.R907*	Substitution - Nonsense	Lung
COSM4993583	c.1190C>T	p.S397F	Substitution - Missense	Skin
COSM3701885	c.4833T>C	p.V1611V	Substitution - coding silent	Liver
COSM4385421	c.3065G>A	p.R1022Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1469456	c.4273A>G	p.R1425G	Substitution - Missense	Large_intestine
COSM3973934	c.1513G>T	p.E505*	Substitution - Nonsense	Central_nervous_system
COSM4767400	c.6793_6794ins10	p.L2266fs*6	Insertion - Frameshift	Adrenal_gland
COSM5967307	c.2408_2408delT	p.S804fs*18	Deletion - Frameshift	Salivary_gland
COSM3973888	c.6327-2A>G	p.?	Unknown	Central_nervous_system
COSM1469444	c.5995C>T	p.P1999S	Substitution - Missense	Large_intestine
COSM3973920	c.4160C>G	p.S1387*	Substitution - Nonsense	Central_nervous_system
COSM3973928	c.1960C>T	p.R654*	Substitution - Nonsense	Central_nervous_system
COSM3973954	c.383T>C	p.V128A	Substitution - Missense	Central_nervous_system
COSM85987	c.6083G>C	p.R2028P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM317036	c.4250G>T	p.R1417L	Substitution - Missense	Soft_tissue
COSM1184218	c.6989A>G	p.Q2330R	Substitution - Missense	Large_intestine
COSM4111160	c.1033G>A	p.A345T	Substitution - Missense	Stomach
COSM5702639	c.4990G>T	p.E1664*	Substitution - Nonsense	Autonomic_ganglia
COSM1716616	c.758T>A	p.L253*	Substitution - Nonsense	Central_nervous_system
COSM613856	c.3892G>T	p.E1298*	Substitution - Nonsense	Endometrium
COSM1716627	c.1074delA	p.K358fs*2	Deletion - Frameshift	Large_intestine
COSM5945712	c.?	p.R1426*	Substitution - Nonsense	Central_nervous_system
COSM3973894	c.6111-1G>A	p.?	Unknown	Central_nervous_system
COSM5351655	c.5494G>A	p.E1832K	Substitution - Missense	Lung
COSM4767398	c.5657C>T	p.P1886L	Substitution - Missense	Autonomic_ganglia
COSM3097041	c.4744_4745insA	p.T1582fs*19	Insertion - Frameshift	Central_nervous_system
COSM3563527	c.1025C>T	p.S342F	Substitution - Missense	Skin
COSM1469496	c.287A>C	p.K96T	Substitution - Missense	Large_intestine
COSM5945725	c.?	p.G2075R	Substitution - Missense	Central_nervous_system
COSM3097041	c.4744_4745insA	p.T1582fs*19	Insertion - Frameshift	Adrenal_gland
COSM1125430	c.4640A>G	p.E1547G	Substitution - Missense	Endometrium
COSM4889722	c.5653C>A	p.H1885N	Substitution - Missense	Upper_aerodigestive_tract
COSM250040	c.2656_2659delGAGA	p.E886fs*18	Deletion - Frameshift	Central_nervous_system
COSM3845414	c.1234G>T	p.D412Y	Substitution - Missense	Breast
COSM1469490	c.890_892delAGA	p.K297delK	Deletion - In frame	Breast
COSM1716714	c.5301_5324del24	p.N1768_E1775delNLLGSIKE	Deletion - In frame	Central_nervous_system
COSM4468825	c.1565C>T	p.S522F	Substitution - Missense	Skin
COSM3940121	c.3515C>G	p.T1172S	Substitution - Missense	Oesophagus
COSM3097080	c.3413G>T	p.R1138I	Substitution - Missense	Large_intestine
COSM1626132	c.5863delA	p.I1955fs*27	Deletion - Frameshift	Liver
COSM757499	c.3190G>A	p.A1064T	Substitution - Missense	Lung
COSM1715183	c.965C>T	p.S322L	Substitution - Missense	Skin
COSM5945701	c.?	p.R418*	Substitution - Nonsense	Central_nervous_system
COSM3973910	c.5016G>A	p.W1672*	Substitution - Nonsense	Central_nervous_system
COSM3097096	c.2658_2659delGA	p.E886fs*10	Deletion - Frameshift	Large_intestine
COSM1716925	c.5124G>C	p.L1708F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3563531	c.289C>T	p.P97S	Substitution - Missense	Skin
COSM5413117	c.5802G>A	p.G1934G	Substitution - coding silent	Skin
COSM1125399	c.6405C>T	p.F2135F	Substitution - coding silent	Endometrium
COSM1469434	c.6563G>C	p.R2188P	Substitution - Missense	Large_intestine
COSM4488644	c.335C>T	p.S112L	Substitution - Missense	Skin
COSM5977570	c.2681C>T	p.T894I	Substitution - Missense	Upper_aerodigestive_tract
COSM1192028	c.3003delA	p.V1002fs*1	Deletion - Frameshift	Central_nervous_system
COSM4589545	c.4377_4379delGGA	p.E1464delE	Deletion - In frame	Bone
COSM5001990	c.5579A>G	p.N1860S	Substitution - Missense	Large_intestine
COSM5757571	c.1961G>A	p.R654Q	Substitution - Missense	Large_intestine
COSM3563519	c.2272C>T	p.H758Y	Substitution - Missense	Skin
COSM3973924	c.3667G>T	p.E1223*	Substitution - Nonsense	Central_nervous_system
COSM757497	c.2576G>T	p.G859V	Substitution - Missense	Lung
COSM3097041	c.4744_4745insA	p.T1582fs*19	Insertion - Frameshift	Large_intestine
COSM3695571	c.2692G>T	p.D898Y	Substitution - Missense	Large_intestine
COSM4635824	c.7420C>T	p.R2474C	Substitution - Missense	Large_intestine
COSM1636610	c.3788A>G	p.D1263G	Substitution - Missense	Liver
COSM1626239	c.662G>A	p.R221K	Substitution - Missense	Central_nervous_system
COSM3965536	c.3737-1G>T	p.?	Unknown	Lung
COSM5120260	c.1162A>C	p.K388Q	Substitution - Missense	Large_intestine
COSM3940123	c.1616A>G	p.Q539R	Substitution - Missense	Oesophagus
COSM757505	c.3945A>G	p.E1315E	Substitution - coding silent	Lung
COSM144217	c.3364_3364delT	p.C1122fs*8	Deletion - Frameshift	Central_nervous_system
COSM5752603	c.7108C>T	p.Q2370*	Substitution - Nonsense	Breast
COSM4385437	c.431C>T	p.P144L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5880301	c.?	p.R2197L	Substitution - Missense	Central_nervous_system
COSM1192038	c.1916delT	p.L639fs*10	Deletion - Frameshift	Central_nervous_system
COSM4589545	c.4377_4379delGGA	p.E1464delE	Deletion - In frame	Bone
COSM85984	c.718T>G	p.C240G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3708734	c.5661G>A	p.W1887*	Substitution - Nonsense	Liver
COSM1716653	c.2241_2286del46	p.S747fs*6	Deletion - Frameshift	Central_nervous_system
COSM4770494	c.862G>T	p.E288*	Substitution - Nonsense	Autonomic_ganglia
COSM5945528	c.6871A>G	p.I2291V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4970847	c.5371G>C	p.D1791H	Substitution - Missense	Central_nervous_system
COSM5924159	c.5179G>A	p.E1727K	Substitution - Missense	Skin
COSM250048	c.1660_1661delCA	p.Q554fs*21	Deletion - Frameshift	Central_nervous_system
COSM85828	c.5270_5272+1delAGTG	p.?	Unknown	Pancreas
COSM1626138	c.3990A>G	p.E1330E	Substitution - coding silent	Liver
COSM757493	c.2090A>G	p.K697R	Substitution - Missense	Lung
COSM5762258	c.6065T>G	p.L2022R	Substitution - Missense	Central_nervous_system
COSM5813945	c.1768C>A	p.L590I	Substitution - Missense	Liver
COSM5945693	c.?	p.R808*	Substitution - Nonsense	Central_nervous_system
COSM5064885	c.4981C>T	p.R1661C	Substitution - Missense	Stomach
COSM111457	c.3976delT	p.S1326fs*20	Deletion - Frameshift	Ovary
COSM1469494	c.326A>C	p.N109T	Substitution - Missense	Large_intestine
COSM3845396	c.5718T>C	p.S1906S	Substitution - coding silent	Stomach
COSM1179047	c.3073A>G	p.I1025V	Substitution - Missense	Prostate
COSM4971799	c.562A>T	p.R188*	Substitution - Nonsense	Central_nervous_system
COSM1715179	c.2095G>A	p.D699N	Substitution - Missense	Skin
COSM3563517	c.2604G>A	p.L868L	Substitution - coding silent	Skin
COSM3973877	c.6545A>G	p.K2182R	Substitution - Missense	Central_nervous_system
COSM1283598	c.6563G>A	p.R2188Q	Substitution - Missense	Central_nervous_system
COSM3424965	c.1331G>A	p.R444Q	Substitution - Missense	Skin
COSM3845410	c.2156C>G	p.S719C	Substitution - Missense	Breast
COSM3563511	c.3429G>A	p.K1143K	Substitution - coding silent	Skin
COSM3914250	c.6867C>T	p.F2289F	Substitution - coding silent	Skin
COSM4967929	c.3971C>G	p.S1324*	Substitution - Nonsense	Adrenal_gland
COSM309388	c.4754C>T	p.S1585F	Substitution - Missense	Soft_tissue
COSM3097047	c.4586_4588delCCA	p.T1529delT	Deletion - In frame	Large_intestine
COSM1716707	c.4956_4956+8delGGTAACTTA	p.?	Unknown	Central_nervous_system
COSM144227	c.6406G>A	p.D2136N	Substitution - Missense	Endometrium
COSM4422796	c.5602G>C	p.A1868P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945716	c.?	p.G1937E	Substitution - Missense	Central_nervous_system
COSM5001990	c.5579A>G	p.N1860S	Substitution - Missense	Pancreas
COSM5654428	c.288A>G	p.K96K	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM1125521	c.82G>T	p.E28*	Substitution - Nonsense	Endometrium
COSM4837157	c.1873G>C	p.E625Q	Substitution - Missense	Cervix
COSM5120255	c.5786+8G>A	p.?	Unknown	Large_intestine
COSM4664619	c.5888G>A	p.R1963Q	Substitution - Missense	Large_intestine
COSM1158712	c.2763C>T	p.V921V	Substitution - coding silent	Pancreas
COSM757495	c.2500G>A	p.A834T	Substitution - Missense	Lung
COSM4136391	c.4945G>A	p.E1649K	Substitution - Missense	Ovary
COSM6018604	c.3854C>T	p.S1285F	Substitution - Missense	Skin
COSM5963574	c.69A>G	p.A23A	Substitution - coding silent	Breast
COSM1469464	c.3953delA	p.N1318fs*28	Deletion - Frameshift	Large_intestine
COSM1660709	c.2674G>A	p.E892K	Substitution - Missense	Kidney
COSM1716612	c.662G>T	p.R221M	Substitution - Missense	Central_nervous_system
COSM392111	c.2095delG	p.D699fs*10	Deletion - Frameshift	Lung
COSM3390786	c.4490T>C	p.L1497P	Substitution - Missense	Pancreas
COSM5171094	c.7449delT	p.P2484fs*>9	Deletion - Frameshift	Large_intestine
COSM85988	c.6884_6885insT	p.N2296fs*26	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM13837	c.2719C>T	p.R907*	Substitution - Nonsense	Lung
COSM1125418	c.5407C>T	p.R1803C	Substitution - Missense	Small_intestine
COSM1716604	c.496delC	p.H166fs*4	Deletion - Frameshift	Central_nervous_system
COSM4136393	c.3187T>C	p.Y1063H	Substitution - Missense	Large_intestine
COSM13837	c.2719C>T	p.R907*	Substitution - Nonsense	Central_nervous_system
COSM3759544	c.2785C>G	p.Q929E	Substitution - Missense	Breast
COSM5731843	c.2192_2192delC	p.S731fs*5	Deletion - Frameshift	Soft_tissue
COSM4608102	c.1873G>T	p.E625*	Substitution - Nonsense	Adrenal_gland
COSM1735849	c.334delT	p.S112fs*15	Deletion - Frameshift	Central_nervous_system
COSM4385427	c.2467A>T	p.K823*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4664634	c.2278A>C	p.N760H	Substitution - Missense	Large_intestine
COSM1716682	c.3345T>G	p.Y1115*	Substitution - Nonsense	Central_nervous_system
COSM5909939	c.907G>A	p.E303K	Substitution - Missense	Skin
COSM1125432	c.4639G>T	p.E1547*	Substitution - Nonsense	Endometrium
COSM4423239	c.3384delA	p.R1128fs*2	Deletion - Frameshift	Central_nervous_system
COSM132881	c.6485T>C	p.V2162A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1125513	c.1032C>T	p.S344S	Substitution - coding silent	Endometrium
COSM1138208	c.322T>C	p.S108P	Substitution - Missense	Kidney
COSM4486281	c.3032C>T	p.S1011F	Substitution - Missense	Skin
COSM3800765	c.957G>C	p.K319N	Substitution - Missense	Urinary_tract
COSM13840	c.3523A>G	p.K1175E	Substitution - Missense	Breast
COSM5945703	c.?	p.K1332fs*?	Frameshift	Central_nervous_system
COSM1716688	c.3992_3993insT	p.K1332fs*1	Insertion - Frameshift	Central_nervous_system
COSM1125428	c.4844A>G	p.D1615G	Substitution - Missense	Endometrium
COSM5758322	c.1676C>A	p.S559*	Substitution - Nonsense	Bone
COSM1125446	c.4278A>G	p.R1426R	Substitution - coding silent	Endometrium
COSM1469490	c.890_892delAGA	p.K297delK	Deletion - In frame	Large_intestine
COSM4767513	c.5957-6A>T	p.?	Unknown	Biliary_tract
COSM5762250	c.4793T>G	p.L1598R	Substitution - Missense	Central_nervous_system
COSM85981	c.236C>G	p.S79*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5103678	c.1110T>C	p.Y370Y	Substitution - coding silent	Large_intestine
COSM4385440	c.254T>C	p.I85T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1125487	c.2441C>A	p.S814Y	Substitution - Missense	Endometrium
COSM4767402	c.5788A>G	p.K1930E	Substitution - Missense	Adrenal_gland
COSM85982	c.20+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM462178	c.6324G>A	p.V2108V	Substitution - coding silent	Cervix
COSM1245825	c.2202G>T	p.M734I	Substitution - Missense	Oesophagus
COSM5678340	c.1637G>T	p.G546V	Substitution - Missense	Soft_tissue
COSM1163570	c.2536G>A	p.D846N	Substitution - Missense	Pancreas
COSM4157025	c.1928A>G	p.E643G	Substitution - Missense	Thyroid
COSM5166042	c.1036C>G	p.L346V	Substitution - Missense	Large_intestine
COSM5986474	c.4511G>T	p.R1504L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5766182	c.6226A>T	p.K2076*	Substitution - Nonsense	Central_nervous_system
COSM317036	c.4250G>T	p.R1417L	Substitution - Missense	Lung
COSM1716705	c.4749_4752delGAAA	p.K1583fs*22	Deletion - Frameshift	Central_nervous_system
COSM3759544	c.2785C>G	p.Q929E	Substitution - Missense	Large_intestine
COSM5945696	c.?	p.E2265A	Substitution - Missense	Central_nervous_system
COSM96933	c.6457C>T	p.R2153C	Substitution - Missense	Central_nervous_system
COSM1716614	c.663-1G>C	p.?	Unknown	Central_nervous_system
COSM1717175	c.6172A>G	p.S2058G	Substitution - Missense	Ovary
COSM144223	c.4276C>T	p.R1426*	Substitution - Nonsense	Central_nervous_system
COSM1245821	c.6750A>T	p.G2250G	Substitution - coding silent	Oesophagus
COSM3406605	c.3054G>T	p.K1018N	Substitution - Missense	Central_nervous_system
COSM5711767	c.5500G>T	p.V1834L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4824378	c.2232G>A	p.M744I	Substitution - Missense	Cervix
COSM4571683	c.5144T>A	p.F1715Y	Substitution - Missense	Skin
COSM1716729	c.6565G>C	p.V2189L	Substitution - Missense	Central_nervous_system
COSM4423035	c.5406_5407insA	p.R1803fs*7	Insertion - Frameshift	Large_intestine
COSM5440148	c.4114A>C	p.R1372R	Substitution - coding silent	Oesophagus
COSM5752543	c.7072-1G>T	p.?	Unknown	Breast
COSM5766184	c.3960_3960delC	p.N1321fs*25	Deletion - Frameshift	Central_nervous_system
COSM4603626	c.2654_2655insCA	p.R885fs*21	Insertion - Frameshift	Central_nervous_system
COSM1716621	c.819_820insT	p.L274fs*8	Insertion - Frameshift	Central_nervous_system
COSM4664615	c.6288G>T	p.K2096N	Substitution - Missense	Large_intestine
COSM144221	c.6331C>T	p.R2111*	Substitution - Nonsense	Central_nervous_system
COSM4767397	c.4535G>A	p.R1512H	Substitution - Missense	Autonomic_ganglia
COSM5757569	c.5939C>T	p.S1980F	Substitution - Missense	Large_intestine
COSM5023800	c.5263C>G	p.L1755V	Substitution - Missense	Bone
COSM4111158	c.1037T>C	p.L346P	Substitution - Missense	Stomach
COSM5200989	c.2519_2520delGA	p.R840fs*8	Deletion - Frameshift	Breast
COSM4885077	c.5283G>T	p.M1761I	Substitution - Missense	Upper_aerodigestive_tract
COSM4423035	c.5406_5407insA	p.R1803fs*7	Insertion - Frameshift	Central_nervous_system
COSM3973946	c.663-2A>G	p.?	Unknown	Central_nervous_system
COSM458084	c.740A>G	p.N247S	Substitution - Missense	Breast
COSM4111166	c.778A>C	p.N260H	Substitution - Missense	Stomach
COSM1716659	c.2363C>G	p.S788*	Substitution - Nonsense	Central_nervous_system
COSM1716717	c.5410G>C	p.A1804P	Substitution - Missense	Central_nervous_system
COSM3097144	c.1886T>G	p.L629R	Substitution - Missense	Large_intestine
COSM3563507	c.3802G>T	p.E1268*	Substitution - Nonsense	Skin
COSM4444204	c.3100C>A	p.Q1034K	Substitution - Missense	Large_intestine
COSM96934	c.5408G>A	p.R1803H	Substitution - Missense	Central_nervous_system
COSM250041	c.5819_5822delATAG	p.D1940fs*14	Deletion - Frameshift	Central_nervous_system
COSM85826	c.6468A>T	p.Q2156H	Substitution - Missense	Pancreas
COSM4968544	c.6492G>T	p.R2164S	Substitution - Missense	Adrenal_gland
COSM3701887	c.1996C>T	p.R666*	Substitution - Nonsense	Central_nervous_system
COSM4111156	c.2239A>G	p.S747G	Substitution - Missense	Stomach
COSM5486992	c.2402C>G	p.S801C	Substitution - Missense	Large_intestine
COSM5487164	c.4081A>G	p.K1361E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4767397	c.4535G>A	p.R1512H	Substitution - Missense	Adrenal_gland
COSM1469440	c.6215A>C	p.K2072T	Substitution - Missense	Large_intestine
COSM3694719	c.737G>A	p.R246H	Substitution - Missense	Large_intestine
COSM1125455	c.3905G>T	p.R1302I	Substitution - Missense	Endometrium
COSM1716608	c.561T>G	p.Y187*	Substitution - Nonsense	Central_nervous_system
COSM1125509	c.1252C>T	p.R418*	Substitution - Nonsense	Endometrium
COSM1626237	c.2971_2972insG	p.E991fs*9	Insertion - Frameshift	Central_nervous_system
COSM5762262	c.1436_1436delC	p.P479fs*35	Deletion - Frameshift	Central_nervous_system
COSM5417529	c.2720G>A	p.R907Q	Substitution - Missense	Endometrium
COSM1125438	c.4389G>A	p.E1463E	Substitution - coding silent	Endometrium
COSM1125497	c.1821A>C	p.E607D	Substitution - Missense	Endometrium
COSM1315707	c.796T>A	p.Y266N	Substitution - Missense	Urinary_tract
COSM3097118	c.2265T>G	p.N755K	Substitution - Missense	Autonomic_ganglia
COSM5175404	c.3145_3146insA	p.I1049fs*4	Insertion - Frameshift	Large_intestine
COSM1283594	c.4934T>G	p.L1645*	Substitution - Nonsense	Autonomic_ganglia
COSM1684671	c.4583_4585delCCA	p.T1529delT	Deletion - In frame	Large_intestine
COSM1716610	c.613delA	p.M205fs*1	Deletion - Frameshift	Central_nervous_system
COSM250047	c.3904_3905insA	p.R1302fs*7	Insertion - Frameshift	Central_nervous_system
COSM1125422	c.5216G>A	p.R1739Q	Substitution - Missense	Endometrium
COSM1716700	c.4510C>T	p.R1504*	Substitution - Nonsense	Central_nervous_system
COSM85986	c.2692G>C	p.D898H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1469476	c.2899A>T	p.K967*	Substitution - Nonsense	Large_intestine
COSM250045	c.2210_2216delTCCTCAA	p.I737fs*3	Deletion - Frameshift	Central_nervous_system
COSM1125463	c.3664G>A	p.D1222N	Substitution - Missense	Endometrium
COSM5048190	c.55C>T	p.H19Y	Substitution - Missense	Oesophagus
COSM4385435	c.1057A>T	p.I353F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3708734	c.5661G>A	p.W1887*	Substitution - Nonsense	Liver
COSM5766181	c.?_?del?	p.?	Unknown	Central_nervous_system
COSM1162160	c.?	p.R781*	Substitution - Nonsense	Central_nervous_system
COSM4767393	c.6253C>T	p.R2085C	Substitution - Missense	Adrenal_gland
COSM96934	c.5408G>A	p.R1803H	Substitution - Missense	Central_nervous_system
COSM250043	c.4145_4146delCT	p.S1382fs*1	Deletion - Frameshift	Central_nervous_system
COSM5674971	c.2923G>A	p.D975N	Substitution - Missense	Soft_tissue
COSM1125489	c.2407A>C	p.I803L	Substitution - Missense	Endometrium
COSM1682739	c.6938T>G	p.L2313W	Substitution - Missense	Large_intestine
COSM4111152	c.2567G>A	p.S856N	Substitution - Missense	Stomach
COSM4967885	c.2431C>T	p.Q811*	Substitution - Nonsense	Adrenal_gland
COSM488632	c.4709T>G	p.F1570C	Substitution - Missense	Kidney
COSM96934	c.5408G>A	p.R1803H	Substitution - Missense	Small_intestine
COSM5731841	c.4543G>T	p.E1515*	Substitution - Nonsense	Soft_tissue
COSM1316525	c.655C>A	p.Q219K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5762253	c.?_?del?	p.?	Unknown	Central_nervous_system
COSM4423237	c.5722delG	p.D1908fs*4	Deletion - Frameshift	Central_nervous_system
COSM3845416	c.124C>G	p.Q42E	Substitution - Missense	Breast
COSM1125495	c.1841G>A	p.G614D	Substitution - Missense	Endometrium
COSM250045	c.2210_2216delTCCTCAA	p.I737fs*3	Deletion - Frameshift	Central_nervous_system
COSM4822220	c.7033G>A	p.V2345M	Substitution - Missense	Cervix
COSM5001990	c.5579A>G	p.N1860S	Substitution - Missense	Soft_tissue
COSM1716674	c.3133_3137delAAAAG	p.K1045fs*1	Deletion - Frameshift	Central_nervous_system
COSM4664613	c.6960T>C	p.S2320S	Substitution - coding silent	Large_intestine
COSM250046	c.496_496delC	p.H166fs*4	Deletion - Frameshift	Central_nervous_system
COSM5498465	c.5698-7delT	p.?	Unknown	Breast
COSM2151157	c.3510A>G	p.Q1170Q	Substitution - coding silent	Central_nervous_system
COSM4771548	c.5972C>G	p.S1991C	Substitution - Missense	Breast
COSM85823	c.4221_4224delAAAG	p.K1409fs*80	Deletion - Frameshift	Pancreas
COSM458088	c.415delG	p.D139fs*14	Deletion - Frameshift	Breast
COSM4767397	c.4535G>A	p.R1512H	Substitution - Missense	Adrenal_gland
COSM5663929	c.3145A>T	p.I1049L	Substitution - Missense	Soft_tissue
COSM1716623	c.874C>T	p.Q292*	Substitution - Nonsense	Central_nervous_system
COSM1716657	c.2341C>T	p.R781*	Substitution - Nonsense	Central_nervous_system
COSM1184214	c.7076A>G	p.K2359R	Substitution - Missense	Large_intestine
COSM5455921	c.2841G>A	p.K947K	Substitution - coding silent	Large_intestine
COSM144215	c.5215C>T	p.R1739*	Substitution - Nonsense	Central_nervous_system
COSM1125513	c.1032C>T	p.S344S	Substitution - coding silent	Lung
COSM4904940	c.3124G>A	p.G1042R	Substitution - Missense	Skin
COSM250040	c.2656_2659delGAGA	p.E886fs*18	Deletion - Frameshift	Central_nervous_system
COSM4767396	c.915_918delTAAT	p.S305fs*26	Deletion - Frameshift	Autonomic_ganglia
COSM96933	c.6457C>T	p.R2153C	Substitution - Missense	Skin
COSM4385419	c.4775T>A	p.L1592H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1626136	c.4721G>A	p.C1574Y	Substitution - Missense	Liver
COSM144220	c.6761A>G	p.H2254R	Substitution - Missense	Central_nervous_system
COSM4385423	c.2770C>A	p.L924I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144224	c.4745_4746insA	p.K1584fs*17	Insertion - Frameshift	Central_nervous_system
COSM5750556	c.3925G>A	p.E1309K	Substitution - Missense	Stomach
COSM1716631	c.1074_1077delACTG	p.I360fs*6	Deletion - Frameshift	Central_nervous_system
COSM3372338	c.895A>G	p.K299E	Substitution - Missense	Thyroid
COSM3973906	c.5289T>G	p.N1763K	Substitution - Missense	Central_nervous_system
COSM488644	c.128A>G	p.N43S	Substitution - Missense	Kidney
COSM377081	c.6892C>T	p.P2298S	Substitution - Missense	Lung
COSM1716663	c.2422C>T	p.R808*	Substitution - Nonsense	Central_nervous_system
COSM1716674	c.3133_3137delAAAAG	p.K1045fs*1	Deletion - Frameshift	Central_nervous_system
COSM3424961	c.2697G>A	p.T899T	Substitution - coding silent	Large_intestine
COSM757509	c.4834C>G	p.L1612V	Substitution - Missense	Lung
COSM4385407	c.6955delA	p.M2319fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1715185	c.248C>T	p.P83L	Substitution - Missense	Skin
COSM4615077	c.6896delC	p.P2299fs*21	Deletion - Frameshift	Large_intestine
COSM144223	c.4276C>T	p.R1426*	Substitution - Nonsense	Central_nervous_system
COSM1716678	c.3147_3148delAA	p.I1049fs*3	Deletion - Frameshift	Central_nervous_system
COSM4932888	c.2503A>T	p.R835*	Substitution - Nonsense	Liver
COSM5435222	c.1227G>T	p.L409F	Substitution - Missense	Oesophagus
COSM5024259	c.638C>G	p.S213*	Substitution - Nonsense	Bone
COSM1469431	c.7053G>T	p.E2351D	Substitution - Missense	Large_intestine
COSM4649443	c.4897A>G	p.N1633D	Substitution - Missense	Large_intestine
COSM5760568	c.?	p.D2082_Y2083delins*	Unknown	Central_nervous_system
COSM5966149	c.2486G>C	p.S829T	Substitution - Missense	Adrenal_gland
COSM13837	c.2719C>T	p.R907*	Substitution - Nonsense	Lung
COSM144223	c.4276C>T	p.R1426*	Substitution - Nonsense	Central_nervous_system
COSM5880301	c.?	p.R2197L	Substitution - Missense	Central_nervous_system
COSM5047739	c.3475G>C	p.E1159Q	Substitution - Missense	Oesophagus
COSM4111154	c.2347A>C	p.S783R	Substitution - Missense	Stomach
COSM1716657	c.2341C>T	p.R781*	Substitution - Nonsense	Central_nervous_system
COSM3364107	c.1864C>A	p.P622T	Substitution - Missense	Kidney
COSM324785	c.481G>T	p.G161*	Substitution - Nonsense	Lung
COSM1184220	c.137A>C	p.K46T	Substitution - Missense	Large_intestine
COSM5366840	c.2519G>T	p.R840I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1469470	c.3490G>A	p.D1164N	Substitution - Missense	Large_intestine
COSM1716637	c.1432delG	p.V478fs*36	Deletion - Frameshift	Central_nervous_system
COSM5731839	c.3064C>T	p.R1022*	Substitution - Nonsense	Soft_tissue
COSM757507	c.4716G>A	p.W1572*	Substitution - Nonsense	Lung
COSM3759544	c.2785C>G	p.Q929E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM6005260	c.996T>C	p.D332D	Substitution - coding silent	Prostate
COSM5024522	c.798C>A	p.Y266*	Substitution - Nonsense	Bone
COSM3973902	c.5635T>G	p.L1879V	Substitution - Missense	Central_nervous_system
COSM4993581	c.1561C>T	p.P521S	Substitution - Missense	Skin
COSM1626218	c.4036_4039delACTG	p.T1346fs*1	Deletion - Frameshift	Central_nervous_system
COSM5945701	c.?	p.R418*	Substitution - Nonsense	Central_nervous_system
COSM3973879	c.6539T>C	p.V2180A	Substitution - Missense	Central_nervous_system
COSM458069	c.6589C>T	p.R2197C	Substitution - Missense	Breast
COSM5120257	c.4749G>T	p.K1583N	Substitution - Missense	Large_intestine
COSM5825003	c.6327-9C>A	p.?	Unknown	Pancreas
COSM1716657	c.2341C>T	p.R781*	Substitution - Nonsense	Central_nervous_system
COSM5417528	c.2863A>C	p.K955Q	Substitution - Missense	Endometrium
COSM1716637	c.1432delG	p.V478fs*36	Deletion - Frameshift	Central_nervous_system
COSM4169423	c.?	p.V1604M	Substitution - Missense	Skin
COSM1626232	c.3027_3028insAT	p.E1010fs*24	Insertion - Frameshift	Central_nervous_system
COSM1716237	c.2971G>A	p.E991K	Substitution - Missense	Central_nervous_system
COSM5791904	c.1957C>T	p.L653F	Substitution - Missense	Breast
COSM5880326	c.?	p.H2254R	Substitution - Missense	Central_nervous_system
COSM1125481	c.2599A>C	p.N867H	Substitution - Missense	Endometrium
COSM1469442	c.6001T>C	p.W2001R	Substitution - Missense	Large_intestine
COSM3097102	c.2556T>A	p.D852E	Substitution - Missense	Large_intestine
COSM4971496	c.5449-1G>A	p.?	Unknown	Central_nervous_system
COSM1162160	c.?	p.R781*	Substitution - Nonsense	Central_nervous_system
COSM5945691	c.?	p.E1702*	Substitution - Nonsense	Central_nervous_system
COSM1716651	c.2239_2240delAG	p.S747fs*6	Deletion - Frameshift	Central_nervous_system
COSM1626142	c.1907A>C	p.N636T	Substitution - Missense	Liver
COSM6005260	c.996T>C	p.D332D	Substitution - coding silent	Prostate
COSM3973926	c.2848A>T	p.K950*	Substitution - Nonsense	Central_nervous_system
COSM4970825	c.6334_6337delTTAT	p.F2113fs*9	Deletion - Frameshift	Central_nervous_system
COSM3563497	c.6178G>A	p.E2060K	Substitution - Missense	Skin
COSM462450	c.?	p.?	Unknown	Central_nervous_system
COSM1245823	c.1011C>T	p.G337G	Substitution - coding silent	Stomach
COSM1716602	c.332_333AT>G	p.N111fs*16	Complex - frameshift	Central_nervous_system
COSM3845404	c.2787G>C	p.Q929H	Substitution - Missense	Breast
COSM458080	c.1967C>T	p.S656F	Substitution - Missense	Breast
COSM1716731	c.6770_6783del14	p.L2257fs*7	Deletion - Frameshift	Central_nervous_system
COSM3701887	c.1996C>T	p.R666*	Substitution - Nonsense	Liver
COSM4767440	c.7090C>T	p.L2364F	Substitution - Missense	Biliary_tract
COSM5977636	c.3193G>T	p.E1065*	Substitution - Nonsense	Central_nervous_system
COSM5766187	c.1219C>G	p.L407V	Substitution - Missense	Central_nervous_system
COSM6018602	c.4434G>A	p.K1478K	Substitution - coding silent	Skin
COSM363480	c.7054G>T	p.D2352Y	Substitution - Missense	Lung
COSM4949544	c.4531G>C	p.E1511Q	Substitution - Missense	Liver
COSM250042	c.4599_4600insT	p.T1534fs*8	Insertion - Frameshift	Central_nervous_system
COSM1125475	c.2874G>T	p.Q958H	Substitution - Missense	Endometrium
COSM3563503	c.4155G>A	p.Q1385Q	Substitution - coding silent	Skin
COSM4664630	c.4277G>A	p.R1426Q	Substitution - Missense	Large_intestine
COSM4960272	c.1351G>A	p.A451T	Substitution - Missense	Liver
COSM4927832	c.5567-1G>A	p.?	Unknown	Liver
COSM5094924	c.6092A>C	p.E2031A	Substitution - Missense	Thymus
COSM144220	c.6761A>G	p.H2254R	Substitution - Missense	Central_nervous_system
COSM1716639	c.1597G>T	p.E533*	Substitution - Nonsense	Central_nervous_system
COSM462450	c.?	p.?	Unknown	Adrenal_gland
COSM3973881	c.6515A>C	p.E2172A	Substitution - Missense	Central_nervous_system
COSM309388	c.4754C>T	p.S1585F	Substitution - Missense	Lung
COSM1283596	c.6049T>C	p.S2017P	Substitution - Missense	Autonomic_ganglia
COSM5498467	c.1643G>T	p.G548V	Substitution - Missense	Biliary_tract
COSM4767397	c.4535G>A	p.R1512H	Substitution - Missense	Adrenal_gland
COSM85821	c.6338_6341delTTAT	p.F2113fs*9	Deletion - Frameshift	Pancreas
COSM5945526	c.7219C>T	p.R2407*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1715181	c.1885C>T	p.L629F	Substitution - Missense	Large_intestine
COSM3682170	c.5872T>G	p.W1958G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4388855	c.4471A>G	p.T1491A	Substitution - Missense	Pancreas
COSM144223	c.4276C>T	p.R1426*	Substitution - Nonsense	Central_nervous_system
COSM3845402	c.3161C>T	p.S1054F	Substitution - Missense	Breast
COSM5120259	c.1540G>T	p.D514Y	Substitution - Missense	Large_intestine
COSM5880301	c.?	p.R2197L	Substitution - Missense	Central_nervous_system
COSM4820447	c.6800C>A	p.T2267N	Substitution - Missense	Cervix
COSM3973914	c.4809+2T>G	p.?	Unknown	Central_nervous_system
COSM458086	c.687G>A	p.L229L	Substitution - coding silent	Breast
COSM1184216	c.5601G>T	p.K1867N	Substitution - Missense	Large_intestine
COSM4111134	c.6326G>T	p.R2109I	Substitution - Missense	Stomach
COSM4136393	c.3187T>C	p.Y1063H	Substitution - Missense	Ovary
COSM367781	c.4696G>C	p.D1566H	Substitution - Missense	Lung
COSM5930385	c.7372G>A	p.G2458R	Substitution - Missense	Skin
COSM5575937	c.3752C>T	p.S1251F	Substitution - Missense	Stomach
COSM5752543	c.7072-1G>T	p.?	Unknown	Breast
COSM1158712	c.2763C>T	p.V921V	Substitution - coding silent	Pancreas
COSM1716648	c.2174_2175delTG	p.V725fs*7	Deletion - Frameshift	Central_nervous_system
COSM4385425	c.2484G>C	p.M828I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4767394	c.5851G>A	p.D1951N	Substitution - Missense	Adrenal_gland
COSM5666920	c.3330T>A	p.S1110S	Substitution - coding silent	Soft_tissue
COSM403563	c.6178G>T	p.E2060*	Substitution - Nonsense	Lung
COSM1626220	c.595-1_613del20	p.?	Unknown	Central_nervous_system
COSM5020773	c.2595C>G	p.H865Q	Substitution - Missense	Soft_tissue
COSM1125403	c.6305T>G	p.F2102C	Substitution - Missense	Endometrium
COSM1162160	c.?	p.R781*	Substitution - Nonsense	Central_nervous_system
COSM1158712	c.2763C>T	p.V921V	Substitution - coding silent	Pancreas
COSM1469429	c.7181T>C	p.V2394A	Substitution - Missense	Large_intestine
COSM458076	c.3669A>G	p.E1223E	Substitution - coding silent	Breast
COSM3973922	c.3785A>G	p.D1262G	Substitution - Missense	Central_nervous_system
COSM1735948	c.2239_2284del46	p.S747fs*6	Deletion - Frameshift	Central_nervous_system
COSM4993579	c.5619C>T	p.F1873F	Substitution - coding silent	Skin
COSM3097195	c.465A>C	p.E155D	Substitution - Missense	Upper_aerodigestive_tract
COSM144216	c.5399T>C	p.M1800T	Substitution - Missense	Central_nervous_system
COSM4385409	c.6464G>T	p.G2155V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5487498	c.919A>T	p.K307*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5714517	c.3737-4C>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5681158	c.2116A>T	p.S706C	Substitution - Missense	Soft_tissue
COSM238911	c.587T>G	p.I196S	Substitution - Missense	Prostate
COSM357685	c.7033G>C	p.V2345L	Substitution - Missense	Lung
COSM3973883	c.6506G>A	p.G2169E	Substitution - Missense	Central_nervous_system
COSM1716672	c.3127_3131delGAAAA	p.K1045fs*1	Deletion - Frameshift	Central_nervous_system
COSM3973948	c.604A>T	p.K202*	Substitution - Nonsense	Central_nervous_system
COSM5417100	c.24A>C	p.E8D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue

> Text Mining based Variations

[ TOP ]

PMID	Variation	Cancer	Evidence
24445767	mutation	Astrocytoma; Glioblastoma	Grades II and III astrocytomas, as well as secondary GBMs are characterized by IDH1, TP53, and ATRX mutations, whereas oligodendrogliomas most frequently harbor codeletion of 1p/19q and mutations in CIC, FUBP1, and the TERT promoter.
27469217	loss of expression (mutation)	Diffuse Astrocytic Neoplasm; Glioneuronal Tumor with Neuropil-Like Islands	The role of ATRX mutations, a class-defining alteration in diffuse astrocytic neoplasms, has not been assessed in GTNIs previously. Loss of ATRX immunoexpression, a surrogate marker for ATRX mutation, was seen in all four cases.
27696251	mutation	Thyroid Gland Undifferentiated (Anaplastic) Carcinoma	ATRX mutations were identified in 10% of the ATC samples.
27425854	mutation	Astrocytic Tumor	Mutations commonly observed in astrocytic tumors (IDH1/2, TP53, ATRX, and PTEN) or ependymoma were not identified.
27407094	mutation	Pancreatic Neuroendocrine Tumor	Whole exome sequencing has identified recurrent mutations in the genes DAXX and ATRX, which correlate with loss of protein expression and alternative lengthening of telomeres (ALT).
27228211	mutation	Pediatric Glioma	Pediatric gliomas harbor mutations for H3F3A, ATRX and DAXX but not IDH.
27209355	mutation (loss of function)	Adrenal Gland Pheochromocytoma	A somatic loss-of-function mutation affecting ATRX was identified in tumor DNA.
27009842	mutation	Neuroblastoma	CHD9, a cancer driver gene, was the most significantly altered (4.0% of cases) after ALK.Other genes (PTK2, NAV3, NAV1, FZD1 and ATRX), expressed in neuroblastoma and involved in cell invasion and migration were mutated at frequency ranged from 4% to 2%.Focal adhesion and regulation of actin cytoskeleton pathways, were frequently disrupted (14.1% of cases) thus suggesting potential novel therapeutic strategies to prevent disease progression.Notably BARD1, CHEK2 and AXIN2 were enriched in rare, potentially pathogenic, germline variants.In summary, whole exome and deep targeted sequencing identified novel cancer genes of clinically aggressive neuroblastoma.
26891131	mutation	Uterine Corpus Leiomyosarcoma	All the observed ATRX alterations were either nonsense or frameshift mutations.
26692951	mutation	Leiomyosarcoma	We identified TP53 mutations in 19 of the 54 tumors (35%) and ATRX mutations in 9 of the 54 tumors (17%).
26671986	mutation	Glioma	This review summarizes the current experience using immunohistochemistry of glioma samples to identify mutations in IDH1, TP53, ATRX, histone H3 genes, BRAF, EGFR, MGMT, CIC, and FUBP1 as well as guidelines for prudent use of DNA sequencing as a supplemental method.
26633716	mutation	Neuroblastoma	High-risk NB frequently displays MYCN amplification, mutations in ALK and ATRX, and genomic rearrangements in TERT genes.
26303716	mutation	Pancreatic Neuroendocrine Tumor	It will also be important to evaluate whether newly discovered mutations in pancreatic NETs, such as DAXX/ATRX, are associated with response to chemotherapy.
26061751	mutation	Low Grade Glioma	Nearly all lower-grade gliomas with IDH mutations and no 1p/19q codeletion had mutations in TP53 (94%) and ATRX inactivation (86%).
26017030	mutation	Acquired α-thalassemia Myelodysplastic Syndrome	In addition, we reported four novel mutations of the ATRX gene in ATMDS.
26014050	mutation	Glioma	Tumor sequencing studies further indicate that acquired somatic mutations of TERT and ATRX are among the most frequent alterations found in adult gliomas.
26004297	mutation	Glioma	Pediatric gliomas differ in their spectrum of disease from those in adults; high grade gliomas occurring in children frequently have mutations in H3F3A, ATRX and DAXX, but not IDH.
25664944	mutation	Low Grade Glioma	Adult LGG are characterized by IDH1/2 mutations and ATRX mutations in astrocytic tumors and IDH1/2 mutations and 1p/19q codeletions in oligodendroglial tumors.
25531179	mutation	Merkel Cell Carcinoma	We demonstrate high-penetrance nonsense mutations in PDE4DIP (n = 4) as well as various missense mutations in the DNA damage response (PRKDC, AURKB, ERCC5, ATR, and ATRX) and epigenetic modulating enzymes (MLL3).
25479829	mutation	Childhood Glioblastoma	H3F3A, HIST1H3B, IDH1, ATRX, DAXX and Tp53 mutations were identified by sequencing/immunohistochemistry in 27 pediatric GBMs.
25461780	mutation	Glioblastoma	Pediatric GBMs differ from those in adults and frequently have mutations in H3F3A, ATRX, and DAXX, but not IDH.
25231549	mutation	Pediatric High-Grade Glioma	Recently, common genetic alterations, including mutations in the H3F3A/ATRX/DAXX pathway, have been described in approximately 30% of the pediatric cases.
25231023	mutation	Adenosarcoma	Three out of 18 (17%) had mutations in ATRX, all associated with SO.
24705251	mutation	Pediatric High-Grade Glioma	We identified recurrent somatic mutations in ACVR1 exclusively in DIPGs (32%), in addition to previously reported frequent somatic mutations in histone H3 genes, TP53 and ATRX, in both DIPGs and NBS-HGGs.
24703847	mutation	Childhood Osteosarcoma	Beyond TP53, the RB1, ATRX, and DLG2 genes showed recurrent somatic alterations in 29%-53% of the tumors.
24691963	mutation	Pediatric High-Grade Glioma	However, genome-wide sequencing of pediatric high-grade gliomas revealed somatic heterozygous mutations in the genes encoding histones H3.1 and H3.3, as well as mutations in the chromatin modifiers ATRX and DAXX.
24436263	mutation	Pancreatic Neuroendocrine Tumor	Mutation in DAXX/ATRX is only seen in pancreatic neuroendocrine tumors, making it a useful potential marker in distinguishing these tumors from mimics.
24285547	mutation	Thalamic Glioma	Further sequencing revealed recurrent mutations in TP53, ATRX, NF1, and EGFR.
24148618	mutation	Pancreatic Neuroendocrine Tumor	Mutations in death domain-associated protein gene (DAXX) or ATR-X gene (ATRX) (which both encode proteins involved in chromatin remodeling) have been detected in 40% of pNETs, in association with activation of alternative lengthening of telomeres.
23954140	mutation	Pancreatic Neuroendocrine Tumor	α-Thalassemia/mental retardation syndrome X-linked protein (ATRX) and death domain-associated protein (DAXX) genes are tumor suppressors whose mutations have been identified in sporadic pancreatic neuroendocrine tumors as well as in patients with MEN1.
23896276	mutation	Glioma	Moreover, large-scale molecular profiling approaches have identified new mutations in gliomas, affecting IDH1, IDH2, H3F3, ATRX, and CIC, which has allowed subclassification of gliomas into distinct molecular subgroups with characteristic features of age, localisation, and outcome.
22869205	mutation	Astrocytoma; Oligoastrocytoma; Glioblastoma, IDH-Mutant	ATRX is frequently mutated in grade II-III astrocytomas (71%), oligoastrocytomas (68%), and secondary glioblastomas (57%), and ATRX mutations are associated with IDH1 mutations and with an alternative lengthening of telomeres phenotype.
22416102	mutation	Neuroblastoma	In the discovery cohort (n = 40), mutations in the ATRX gene were identified in 100% (95% CI, 50%-100%) of tumors from patients in the adolescent and young adult group (5 of 5), in 17% (95% CI, 7%-36%) of tumors from children (5 of 29), and 0% (95% CI, 0%-40%) of tumors from infants (0 of 6).
21719641	mutation; loss of expression	Pancreatic Neuroendocrine Tumor	All of the PanNETs exhibiting these abnormal telomeres had ATRX or DAXX mutations or loss of nuclear ATRX or DAXX protein.
21252315	mutation	Pancreatic Neuroendocrine Tumor	The most frequently mutated genes specify proteins implicated in chromatin remodeling: 44% of the tumors had somatic inactivating mutations in MEN1, which encodes menin, a component of a histone methyltransferase complex, and 43% had mutations in genes encoding either of the two subunits of a transcription/chromatin remodeling complex consisting of DAXX (death-domain-associated protein) and ATRX (伪 thalassemia/mental retardation syndrome X-linked).
26812616	mutation	Esophageal Squamous Cell Carcinoma	Deep sequencing of components of the SWI/SNF complex using a bench-top next generation sequencer revealed that eight of 92 ESCCs (8.7%) had 11 somatic mutations of 7 genes, ARID1A, ARID2, ATRX, PBRM1, SMARCA4, SMARCAL1, and SMARCC1.
27057633	mutation	GNAQ-Mutated Blue Melanocytic Neoplasm	All of the samples harbored a GNAQ mutation, exhibited RAS pathway activation, and harbored additional mutations in genes associated with genomic instability and epigenetic regulation (KMT2C, FANCD2, ATR, ATRX, NBN, ERCC2, SETD2, and WHSC1).

Summary
Symbol	ATRX
Name	ATRX, chromatin remodeler
Aliases	XH2; XNP; RAD54 homolog (S. cerevisiae); RAD54; JMS; MRX52; alpha thalassemia/mental retardation syndrome X- ......
Location	Xq21.1
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)

[ TOP ]

Filter By:

Uniprot ID	Position	Amino Acid	Description	Upstream Enzyme	Affected By Mutation	Amino Acid Sequence Variant
P46100	34	S	Phosphoserine	-	No	None detected
P46100	89	Y	Phosphotyrosine	-	Yes	p.Y89F (cancer: KIRC)
P46100	92	S	Phosphoserine	-	No	None detected
P46100	112	S	Phosphoserine	-	No	None detected
P46100	213	S	Phosphoserine	-	No	None detected
P46100	316	S	Phosphoserine	-	No	None detected
P46100	591	T	Phosphothreonine	-	No	None detected
P46100	594	S	Phosphoserine	-	No	None detected
P46100	598	S	Phosphoserine	-	Yes	p.S598F (cancer: PAAD); p.SPIK598fs (cancer: PRAD)
P46100	634	S	Phosphoserine	-	No	None detected
P46100	674	T	Phosphothreonine	-	No	None detected
P46100	675	S	Phosphoserine	-	No	None detected
P46100	677	S	Phosphoserine	-	Yes	p.S677* (cancer: LUAD)
P46100	729	S	Phosphoserine	-	Yes	p.S729* (cancer: LGG)
P46100	731	S	Phosphoserine	-	No	None detected
P46100	784	S	Phosphoserine	-	No	None detected
P46100	819	S	Phosphoserine	-	No	None detected
P46100	849	S	Phosphoserine	-	No	None detected
P46100	850	S	Phosphoserine	-	Yes	p.S850fs (cancer: LGG)
P46100	875	S	Phosphoserine	-	No	None detected
P46100	876	S	Phosphoserine	-	No	None detected
P46100	889	S	Phosphoserine	-	Yes	p.S889F (cancer: HNSC)
P46100	962	S	Phosphoserine	-	No	None detected
P46100	967	K	N6-acetyllysine	-	Yes	p.K967* (cancer: COAD)
P46100	974	S	Phosphoserine	-	No	None detected
P46100	977	T	Phosphothreonine	-	No	None detected
P46100	1011	S	Phosphoserine	-	No	None detected
P46100	1012	S	Phosphoserine	-	No	None detected
P46100	1013	S	Phosphoserine	-	No	None detected
P46100	1061	S	Phosphoserine	-	Yes	p.S1061C (cancer: BLCA)
P46100	1063	Y	Phosphotyrosine	-	No	None detected
P46100	1244	S	Phosphoserine	-	No	None detected
P46100	1245	S	Phosphoserine	-	Yes	p.S1245L (cancer: BLCA)
P46100	1253	S	Phosphoserine	-	Yes	p.S1253* (cancer: SARC)
P46100	1322	S	Phosphoserine	-	No	None detected
P46100	1324	S	Phosphoserine	-	No	None detected
P46100	1326	S	Phosphoserine	-	Yes	p.S1326fs (cancer: OV)
P46100	1348	S	Phosphoserine	-	No	None detected
P46100	1352	S	Phosphoserine	-	No	None detected
P46100	1527	S	Phosphoserine	-	No	None detected
P46100	1529	T	Phosphothreonine	-	No	None detected
P46100	1906	S	Phosphoserine	-	Yes	p.S1906N (cancer: LUAD)
P46100	1913	S	Phosphoserine	-	No	None detected
P46100	1992	S	Phosphoserine	-	No	None detected
P46100	1996	S	Phosphoserine	-	No	None detected
P46100	2220	S	Phosphoserine	-	No	None detected
P46100	2474	R	Omega-N-methylarginine	-	No	None detected
P46100	2480	R	Omega-N-methylarginine	-	No	None detected

Summary
Symbol	ATRX
Name	ATRX, chromatin remodeler
Aliases	XH2; XNP; RAD54 homolog (S. cerevisiae); RAD54; JMS; MRX52; alpha thalassemia/mental retardation syndrome X- ......
Location	Xq21.1
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)

[ TOP ]

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	6.592	5.821	-0.66	5.94e-05	Under
BRCA	Breast invasive carcinoma	112	1100	7.115	6.658	-0.422	1.98e-09	NS
CESC	Cervical and endocervical cancers	3	306	6.512	5.746	NA	NA	NA
COAD	Colon adenocarcinoma	41	459	5.408	5.8	0.181	0.175	NS
ESCA	Esophageal carcinoma	11	185	8.201	7.482	-0.569	0.00334	NS
GBM	Glioblastoma multiforme	5	166	6.976	6.031	NA	NA	NA
HNSC	Head and Neck squamous cell carcinoma	44	522	5.948	5.662	-0.251	0.0291	NS
KIRC	Kidney renal clear cell carcinoma	72	534	6.974	6.415	-0.564	4.63e-18	NS
KIRP	Kidney renal papillary cell carcinoma	32	291	6.632	5.881	-0.654	5.17e-08	Under
LAML	Acute Myeloid Leukemia	0	173	NA	8.207	NA	NA	NA
LGG	Brain Lower Grade Glioma	0	530	NA	6.346	NA	NA	NA
LIHC	Liver hepatocellular carcinoma	50	373	4.655	4.573	-0.065	0.557	NS
LUAD	Lung adenocarcinoma	59	517	6.411	6.204	-0.156	0.0633	NS
LUSC	Lung squamous cell carcinoma	51	501	6.315	5.869	-0.39	6.52e-07	NS
OV	Ovarian serous cystadenocarcinoma	0	307	NA	6.069	NA	NA	NA
PAAD	Pancreatic adenocarcinoma	4	179	6.231	6.023	NA	NA	NA
PCPG	Pheochromocytoma and Paraganglioma	3	184	5.968	6.684	NA	NA	NA
PRAD	Prostate adenocarcinoma	52	498	6.709	6.418	-0.29	0.00145	NS
READ	Rectum adenocarcinoma	10	167	5.682	5.756	-0.119	0.726	NS
SARC	Sarcoma	2	263	5.821	5.73	NA	NA	NA
SKCM	Skin Cutaneous Melanoma	1	472	5.784	5.911	NA	NA	NA
STAD	Stomach adenocarcinoma	35	415	6.929	7.265	0.266	0.0355	NS
TGCT	Testicular Germ Cell Tumors	0	156	NA	6.048	NA	NA	NA
THCA	Thyroid carcinoma	59	509	6.615	6.334	-0.223	0.00127	NS
THYM	Thymoma	2	120	6.573	5.947	NA	NA	NA
UCEC	Uterine Corpus Endometrial Carcinoma	35	546	6.425	5.821	-0.674	8.75e-08	Under

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

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Expression Level (TPM)
Adipose tissue	18.2
Adrenal gland	18.1
Appendix	23.4
Bone marrow	17.8
Breast	19.6
Cerebral cortex	39.4
Cervix, uterine	26.6
Colon	11.6
Duodenum	10.6
Endometrium	32.4
Epididymis	13.2
Esophagus	14.2
Fallopian tube	18.5
Gallbladder	20.7
Heart muscle	9.2
Kidney	17
Liver	6.3
Lung	18.5
Lymph node	24
Ovary	29.4
Pancreas	2.7
Parathyroid gland	53.5
Placenta	22.8
Prostate	26.7
Rectum	13.6
Salivary gland	5.6
Seminal vesicle	18.1
Skeletal muscle	4.8
Skin	15
Small intestine	11.5
Smooth muscle	21.5
Spleen	29.9
Stomach	14.8
Testis	11.4
Thyroid gland	32.3
Tonsil	16.2
Urinary bladder	14.9

> Text Mining based Expression

[ TOP ]

PMID	Expression	Cancer	Evidence
27469217	loss of expression (mutation)	Diffuse Astrocytic Neoplasm; Glioneuronal Tumor with Neuropil-Like Islands	The role of ATRX mutations, a class-defining alteration in diffuse astrocytic neoplasms, has not been assessed in GTNIs previously. Loss of ATRX immunoexpression, a surrogate marker for ATRX mutation, was seen in all four cases.
27162024	loss of expression	Pancreatic Neuroendocrine Tumor	Loss of ATRX/DAXX immunoexpression was noted in 18 cases (39.1%), and was significantly more frequent in tumors larger than 5cm.
27036230	loss of expression	Glioma	Their molecular profile was characterized by IDH mutations and loss of ATRX expression.
26443480	overexpression (hypomethylation)	Giant Cell Glioblastoma	ATRX loss was detected immunohistochemically in 19% of giant cell glioblastomas, but absent in 17 gliosarcomas.
26428317	loss of expression	Leiomyosarcoma; Angiosarcoma; Pleomorphic Liposarcoma; Dedifferentiated Liposarcoma; Undifferentiated Pleomorphic Sarcoma; Myxofibrosarcoma	We previously reported that alternative lengthening of telomeres and loss of ATRX expression were common in leiomyosarcoma, angiosarcoma, pleomorphic liposarcoma, and dedifferentiated liposarcoma. In the present study, we screened an additional 245 sarcomas of other types to determine the prevalence of alternative lengthening of telomeres, loss of ATRX/DAXX expression, and their relationship. Undifferentiated pleomorphic sarcomas were frequently alternative lengthening of telomeres positive (65%) and loss of ATRX was seen in approximately half of the alternative lengthening of telomeres-positive tumors. Nineteen of 25 myxofibrosarcomas were alternative lengthening of telomeres-positive, but only one was ATRX deficient.
26395639	loss of expression	Astrocytoma	ATRX loss was detected by immunohistochemistry (IHC) and was shown to be much less frequent in pGBs (3.5%) than in grade II, III astrocytomas and IV sGBs (31%).
26291601	loss of expression	Sarcoma	Interestingly, a further 20 sarcomas, all belonging to the aforementioned entities with complete ATRX loss, presented with a heterogeneous ATRX expression pattern.
26190196	loss of expression	Primary Angiosarcoma; Epithelioid Hemangioendothelioma	Loss of ATRX expression was observed in 21% (16/77) of the primary angiosarcomas and 9% (1/11) of epithelioid hemangioendotheliomas.
26026117	loss of expression	Pancreatic Neoplasm	The ALT-positive phenotype was significantly associated with tumors of pancreatic origin (7/10) and loss of ATRX or DAXX protein (8/10).
26022452	loss of expression	Liposarcoma	Eighteen (16%) and one (1%) tumors were negative for ATRX and DAXX immunostaining, respectively.
25991674	loss of expression	Astrocytic Glioma	None of the astrocytic gliomas showed p53 accumulation, and ATRX loss was found in three of the 15 astrocytic gliomas.
25668564	loss of expression	Astrocytoma; Oligoastrocytoma	Loss of ATRX expression was more common in tumors with an astrocytic component (astrocytomas II/III, 46.4%; oligoastrocytomas, 47.5%) but was uncommon in oligodendrogliomas (7.3%) and glioblastomas (0.9%).
25439321	loss of expression	Ileal Neuroendocrine Tumor G1	Additionally, the loss of ATRX expression was registered, thus underlying a tumorigenic role in a subgroup of these tumors.
25418835	overexpression	Non-Small Cell Lung Carcinoma	Immunohistochemical study showed that Rad54 and XRCC2 proteins were highly expressed in the majority of non-small-cell lung cancer (NSCLC) and gastric cancer, and that expression of these two proteins was significantly correlated with that of WT1 protein in NSCLCs.
25229770	loss of expression	Leiomyosarcoma	Loss of ATRX expression was observed in 33% of the tumors (30/92), and all but 2 ATRX-deficient tumors were ALT positive.
25077701	loss of expression	Neuroblastoma	ATRX negative expression was present in the tumors.
24810474	underexpression	Astrocytoma; Anaplastic Astrocytoma; Glioblastoma	In our cohort, low ATRX mRNA expression was detected in 68% of astrocytomas, 50% of anaplastic astrocytomas and 41.6% of glioblastomas.
24430597	loss of expression	Pancreatic Neuroendocrine Tumor	Loss of expression of DAXX and ATRX proteins has been recently identified in 45 %.
23904111	loss of expression	Anaplastic Astrocytoma; Anaplastic Oligoastrocytoma; Anaplastic Oligodendroglioma	Loss of ATRX expression was detected in 45 % of anaplastic astrocytomas (AA), 27 % of anaplastic oligoastrocytomas (AOA) and 10 % of anaplastic oligodendrogliomas (AO).
23765250	altered expression	Pediatric High-Grade Astrocytoma	We found that in pediatric high-grade astrocytomas, 29.6% of tumors were positive for ALT and 24.5% were immunonegative for the ATRX protein, these two alterations being highly associated with one another (P<0.0001).
22575867	loss of expression	Pancreatic Neuroendocrine Tumor	ATRX and/or DAXX expression was lost in 3 of 50 (6%) pancreatic neuroendocrine tumors.
21719641	mutation; loss of expression	Pancreatic Neuroendocrine Tumor	All of the PanNETs exhibiting these abnormal telomeres had ATRX or DAXX mutations or loss of nuclear ATRX or DAXX protein.
27311324	loss of expression	Glioma	Among 196 glial tumors with nuclear ATRX loss, 173 (89%) had an IDH1 or IDH2 mutation.
27407094	Loss of expression	pancreatic neuroendocrine tumors	The prevalence of ALT and DAXX/ATRX loss in resected PanNETs was 31% and 26%, respectively, and associated with larger tumor size, higher WHO grade, lymph node metastasis, and distant metastasis (P < 0.001).

Summary
Symbol	ATRX
Name	ATRX, chromatin remodeler
Aliases	XH2; XNP; RAD54 homolog (S. cerevisiae); RAD54; JMS; MRX52; alpha thalassemia/mental retardation syndrome X- ......
Location	Xq21.1
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	0.063	0.205	20.3	66.3	13.4	Neutral
BRCA	Breast invasive carcinoma	1075	0.122	6.37e-05	19	67.3	13.8	Neutral
CESC	Cervical and endocervical cancers	292	0.217	0.000192	22.6	66.8	10.6	Neutral
COAD	Colon adenocarcinoma	449	0.095	0.0441	12.7	70.6	16.7	Neutral
ESCA	Esophageal carcinoma	183	0.371	2.29e-07	19.7	55.2	25.1	Neutral
GBM	Glioblastoma multiforme	147	0.13	0.117	24.5	69.4	6.1	Neutral
HNSC	Head and Neck squamous cell carcinoma	514	0.16	0.00026	15.2	65	19.8	Neutral
KIRC	Kidney renal clear cell carcinoma	525	0.022	0.607	9.7	85.9	4.4	Neutral
KIRP	Kidney renal papillary cell carcinoma	288	-0.159	0.00687	10.8	54.9	34.4	Gain
LAML	Acute Myeloid Leukemia	166	-0.012	0.875	3.6	95.8	0.6	Neutral
LGG	Brain Lower Grade Glioma	513	0.141	0.00134	16.2	73.9	9.9	Neutral
LIHC	Liver hepatocellular carcinoma	364	0.146	0.00525	20.3	62.4	17.3	Neutral
LUAD	Lung adenocarcinoma	512	0.133	0.00249	16.4	70.1	13.5	Neutral
LUSC	Lung squamous cell carcinoma	498	0.169	0.000155	25.1	59.8	15.1	Neutral
OV	Ovarian serous cystadenocarcinoma	300	0.208	0.000287	41.3	32	26.7	Loss
PAAD	Pancreatic adenocarcinoma	177	0.014	0.852	12.4	80.2	7.3	Neutral
PCPG	Pheochromocytoma and Paraganglioma	162	-0.082	0.301	30.2	66.7	3.1	Neutral
PRAD	Prostate adenocarcinoma	491	-0.002	0.963	6.9	90.8	2.2	Neutral
READ	Rectum adenocarcinoma	164	0.199	0.0108	17.1	62.8	20.1	Neutral
SARC	Sarcoma	255	0.237	0.000134	45.9	39.2	14.9	Loss
SKCM	Skin Cutaneous Melanoma	367	0	0.995	24.3	61.9	13.9	Neutral
STAD	Stomach adenocarcinoma	413	0.135	0.006	13.3	74.1	12.6	Neutral
TGCT	Testicular Germ Cell Tumors	150	0.06	0.466	18.7	65.3	16	Neutral
THCA	Thyroid carcinoma	497	0.034	0.455	0.8	97.6	1.6	Neutral
THYM	Thymoma	119	-0.045	0.631	5	93.3	1.7	Neutral
UCEC	Uterine Corpus Endometrial Carcinoma	537	0.062	0.151	12.1	73	14.9	Neutral

Summary
Symbol	ATRX
Name	ATRX, chromatin remodeler
Aliases	XH2; XNP; RAD54 homolog (S. cerevisiae); RAD54; JMS; MRX52; alpha thalassemia/mental retardation syndrome X- ......
Location	Xq21.1
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	-0.15	0.00197	17	408	-0.005	0.0526	NS/NA
BRCA	Breast invasive carcinoma	-0.135	7.02e-05	83	785	-0.038	2.28e-08	NS/NA
CESC	Cervical and endocervical cancers	-0.234	3.32e-05	3	306	NA	NA	NS/NA
COAD	Colon adenocarcinoma	-0.269	1.36e-06	19	297	-0.004	0.857	NS/NA
ESCA	Esophageal carcinoma	-0.277	9.71e-05	9	185	NA	NA	NS/NA
GBM	Glioblastoma multiforme	0.06	0.633	1	64	NA	NA	NS/NA
HNSC	Head and Neck squamous cell carcinoma	-0.146	0.000651	20	522	0.002	0.94	NS/NA
KIRC	Kidney renal clear cell carcinoma	-0.026	0.634	24	319	0.003	0.135	NS/NA
KIRP	Kidney renal papillary cell carcinoma	0.027	0.642	23	275	0.002	0.158	NS/NA
LAML	Acute Myeloid Leukemia	0.04	0.605	0	170	NA	NA	NS/NA
LGG	Brain Lower Grade Glioma	-0.043	0.32	0	530	NA	NA	NS/NA
LIHC	Liver hepatocellular carcinoma	-0.066	0.18	41	373	0.008	0.0951	NS/NA
LUAD	Lung adenocarcinoma	-0.021	0.654	21	456	0.167	0.567	NS/NA
LUSC	Lung squamous cell carcinoma	-0.15	0.00353	8	370	NA	NA	NS/NA
OV	Ovarian serous cystadenocarcinoma	-0.35	0.359	0	9	NA	NA	NS/NA
PAAD	Pancreatic adenocarcinoma	-0.061	0.415	4	179	NA	NA	NS/NA
PCPG	Pheochromocytoma and Paraganglioma	0.029	0.692	3	184	NA	NA	NS/NA
PRAD	Prostate adenocarcinoma	-0.291	9.95e-12	35	498	0.001	0.0322	NS/NA
READ	Rectum adenocarcinoma	-0.245	0.0138	2	99	NA	NA	NS/NA
SARC	Sarcoma	0.008	0.898	0	263	NA	NA	NS/NA
SKCM	Skin Cutaneous Melanoma	-0.089	0.0538	1	471	NA	NA	NS/NA
STAD	Stomach adenocarcinoma	-0.192	0.000196	0	372	NA	NA	NS/NA
TGCT	Testicular Germ Cell Tumors	-0.138	0.0855	0	156	NA	NA	NS/NA
THCA	Thyroid carcinoma	-0.046	0.273	50	509	-0.01	0.71	NS/NA
THYM	Thymoma	0.031	0.738	2	120	NA	NA	NS/NA
UCEC	Uterine Corpus Endometrial Carcinoma	-0.092	0.0474	34	431	0.102	1.97e-05	NS/NA

Summary
Symbol	ATRX
Name	ATRX, chromatin remodeler
Aliases	XH2; XNP; RAD54 homolog (S. cerevisiae); RAD54; JMS; MRX52; alpha thalassemia/mental retardation syndrome X- ......
Location	Xq21.1
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 ]
There is no record.

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Level	Level Name
Adrenal gland	3	High
Appendix	3	High
Bone marrow	3	High
Breast	3	High
Bronchus	3	High
Caudate	3	High
Cerebellum	3	High
Cerebral cortex	3	High
Cervix, uterine	2	Medium
Colon	3	High
Duodenum	3	High
Endometrium	2	Medium
Epididymis	3	High
Esophagus	3	High
Fallopian tube	3	High
Gallbladder	3	High
Heart muscle	3	High
Hippocampus	3	High
Kidney	3	High
Liver	1	Low
Lung	3	High
Lymph node	2	Medium
Nasopharynx	3	High
Oral mucosa	3	High
Ovary	3	High
Pancreas	3	High
Parathyroid gland	1	Low
Placenta	3	High
Prostate	2	Medium
Rectum	3	High
Salivary gland	3	High
Seminal vesicle	2	Medium
Skeletal muscle	3	High
Skin	3	High
Small intestine	3	High
Smooth muscle	3	High
Soft tissue	3	High
Spleen	3	High
Stomach	3	High
Testis	3	High
Thyroid gland	3	High
Tonsil	3	High
Urinary bladder	3	High
Vagina	3	High

Summary
Symbol	ATRX
Name	ATRX, chromatin remodeler
Aliases	XH2; XNP; RAD54 homolog (S. cerevisiae); RAD54; JMS; MRX52; alpha thalassemia/mental retardation syndrome X- ......
Location	Xq21.1
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	0.391	NS	24476821
BRCA	Breast invasive carcinoma	521	9.27e-07	Significant	23000897
COAD	Colon adenocarcinoma	149	0.0114	Significant	22810696
GBM	Glioblastoma multiforme	157	0.106	NS	26824661
HNSC	Head and Neck squamous cell carcinoma	279	0.0285	Significant	25631445
KIRP	Kidney renal papillary cell carcinoma	161	0.351	NS	26536169
LGG	Brain Lower Grade Glioma	513	7.3e-60	Significant	26824661
LUAD	Lung adenocarcinoma	230	0.0104	Significant	25079552
LUSC	Lung squamous cell carcinoma	178	0.0335	Significant	22960745
OV	Ovarian serous cystadenocarcinoma	287	0.416	NS	21720365
PRAD	Prostate adenocarcinoma	333	5.82e-05	Significant	26544944
READ	Rectum adenocarcinoma	67	0.808	NS	22810696
SKCM	Skin Cutaneous Melanoma	315	0.638	NS	26091043
STAD	Stomach adenocarcinoma	277	0.00592	Significant	25079317
THCA	Thyroid carcinoma	391	0.837	NS	25417114
UCEC	Uterine Corpus Endometrial Carcinoma	232	0.104	NS	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	0.923	0.707	NS
BRCA	Breast invasive carcinoma	1079	1.576	0.0614	NS
CESC	Cervical and endocervical cancers	291	1.311	0.424	NS
COAD	Colon adenocarcinoma	439	1.054	0.859	NS
ESCA	Esophageal carcinoma	184	2.558	0.00837	Shorter
GBM	Glioblastoma multiforme	158	1.044	0.874	NS
HNSC	Head and Neck squamous cell carcinoma	518	0.725	0.104	NS
KIRC	Kidney renal clear cell carcinoma	531	0.408	0.00012	Longer
KIRP	Kidney renal papillary cell carcinoma	287	0.992	0.985	NS
LAML	Acute Myeloid Leukemia	149	1.022	0.939	NS
LGG	Brain Lower Grade Glioma	511	1.245	0.396	NS
LIHC	Liver hepatocellular carcinoma	365	0.936	0.786	NS
LUAD	Lung adenocarcinoma	502	0.895	0.597	NS
LUSC	Lung squamous cell carcinoma	494	0.978	0.901	NS
OV	Ovarian serous cystadenocarcinoma	303	0.967	0.879	NS
PAAD	Pancreatic adenocarcinoma	177	1.158	0.6	NS
PCPG	Pheochromocytoma and Paraganglioma	179	0.245	0.172	NS
PRAD	Prostate adenocarcinoma	497	1.66	0.628	NS
READ	Rectum adenocarcinoma	159	1.02	0.982	NS
SARC	Sarcoma	259	1.018	0.951	NS
SKCM	Skin Cutaneous Melanoma	459	0.473	0.000157	Longer
STAD	Stomach adenocarcinoma	388	0.949	0.818	NS
TGCT	Testicular Germ Cell Tumors	134	0	0.317	NS
THCA	Thyroid carcinoma	500	2.43	0.273	NS
THYM	Thymoma	119	0.537	0.492	NS
UCEC	Uterine Corpus Endometrial Carcinoma	543	1.622	0.122	NS

> Stage

[ TOP ]

Association between expresson and stage.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
BLCA	Bladder urothelial carcinoma	406	-0.016	0.741	NS
BRCA	Breast invasive carcinoma	1071	-0.014	0.657	NS
CESC	Cervical and endocervical cancers	167	-0.022	0.777	NS
COAD	Colon adenocarcinoma	445	0.016	0.734	NS
ESCA	Esophageal carcinoma	162	0.193	0.0138	Higher
HNSC	Head and Neck squamous cell carcinoma	448	-0.04	0.403	NS
KIRC	Kidney renal clear cell carcinoma	531	-0.141	0.00115	Lower
KIRP	Kidney renal papillary cell carcinoma	260	-0.024	0.706	NS
LIHC	Liver hepatocellular carcinoma	347	0.085	0.116	NS
LUAD	Lung adenocarcinoma	507	-0.01	0.819	NS
LUSC	Lung squamous cell carcinoma	497	0.006	0.89	NS
OV	Ovarian serous cystadenocarcinoma	302	-0.048	0.405	NS
PAAD	Pancreatic adenocarcinoma	176	-0.042	0.582	NS
READ	Rectum adenocarcinoma	156	0.043	0.596	NS
SKCM	Skin Cutaneous Melanoma	410	0	0.998	NS
STAD	Stomach adenocarcinoma	392	0.055	0.275	NS
TGCT	Testicular Germ Cell Tumors	81	0.002	0.985	NS
THCA	Thyroid carcinoma	499	-0.056	0.21	NS
UCEC	Uterine Corpus Endometrial Carcinoma	501	-0.047	0.291	NS

> Grade

[ TOP ]

Association between expresson and grade.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
CESC	Cervical and endocervical cancers	272	-0.043	0.484	NS
HNSC	Head and Neck squamous cell carcinoma	498	0.088	0.0493	Higher
KIRC	Kidney renal clear cell carcinoma	525	-0.151	5e-04	Lower
LGG	Brain Lower Grade Glioma	514	-0.002	0.972	NS
LIHC	Liver hepatocellular carcinoma	366	-0.024	0.652	NS
OV	Ovarian serous cystadenocarcinoma	296	0.039	0.505	NS
PAAD	Pancreatic adenocarcinoma	176	-0.039	0.61	NS
STAD	Stomach adenocarcinoma	406	0.046	0.355	NS
UCEC	Uterine Corpus Endometrial Carcinoma	534	0.013	0.761	NS

Summary
Symbol	ATRX
Name	ATRX, chromatin remodeler
Aliases	XH2; XNP; RAD54 homolog (S. cerevisiae); RAD54; JMS; MRX52; alpha thalassemia/mental retardation syndrome X- ......
Location	Xq21.1
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	ATRX
Name	ATRX, chromatin remodeler
Aliases	XH2; XNP; RAD54 homolog (S. cerevisiae); RAD54; JMS; MRX52; alpha thalassemia/mental retardation syndrome X- ......
Location	Xq21.1
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 ATRX.

Summary
Symbol	ATRX
Name	ATRX, chromatin remodeler
Aliases	XH2; XNP; RAD54 homolog (S. cerevisiae); RAD54; JMS; MRX52; alpha thalassemia/mental retardation syndrome X- ......
Location	Xq21.1
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
27663587	Pancreatic Neuroendocrine Tumor	partner	ALT	negative correlation	Similarly, tumors with loss of ATRX/DAXX expression were significantly associated with ALT (p<0.001), aggressive clinical behavior, and reduced recurrence-free survival (p<0.001).
27407094	Pancreatic Neuroendocrine Tumor	partner	ALT	correlation	Whole exome sequencing has identified recurrent mutations in the genes DAXX and ATRX, which correlate with loss of protein expression and alternative lengthening of telomeres (ALT).
26395639	Astrocytoma	partner	IDH1R132H; p53; MGMT	correlation	Strong correlations were found between ATRX loss and IDH1R132H mutation, p53 overexpression as well as MGMT hypermethylation.
26190196	Primary Angiosarcoma; Epithelioid Hemangioendothelioma	partner	ALT	negative correlation	Remarkably, ALT was highly associated with loss of ATRX expression: all but 2 ALT-positive angiosarcomas were ATRX deficient.
26061751	Low Grade Glioma	partner	IDH	correlation	Nearly all lower-grade gliomas with IDH mutations and no 1p/19q codeletion had mutations in TP53 (94%) and ATRX inactivation (86%).
26026117	Pancreatic Neoplasm	partner	ALT	negative correlation	The ALT-positive phenotype was significantly associated with tumors of pancreatic origin (7/10) and loss of ATRX or DAXX protein (8/10).
26022452	Liposarcoma	partner	ALT	negative correlation	Remarkably, all cases with loss of either ATRX or DAXX expression had alternative lengthening of telomeres, and 83% (19/23) of tumors that had alternative lengthening of telomeres showed loss of either protein.
25229770	Leiomyosarcoma	partner	ALT	negative correlation	Loss of ATRX expression was observed in 33% of the tumors (30/92), and all but 2 ATRX-deficient tumors were ALT positive.
24810474	Astrocytoma; Anaplastic Astrocytoma; Glioblastoma	partner	IDH1/2	correlation	Low ATRX expression closely overlapped with mutations in IDH1/2 (P<0.0001) in astrocytic tumors across WHO grades II-IV.
23765250	Pediatric High-Grade Astrocytoma	partner	ALT	negative correlation	We found that in pediatric high-grade astrocytomas, 29.6% of tumors were positive for ALT and 24.5% were immunonegative for the ATRX protein, these two alterations being highly associated with one another (P<0.0001).
27311324	Glioma	partner	IDH1/2; H3F3A mutation	association	ATRX loss in astrocytomas was also strongly associated with IDH1/2 and H3F3A mutation (p<0.0001).