CR2Cancer

Summary
Symbol	CREBBP
Name	CREB binding protein
Aliases	KAT3A; RSTS; Rubinstein-Taybi syndrome; CREB-binding protein
Location	16p13.3
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

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Domain

PF00439 Bromodomain
PF09030 Creb binding
PF06001 Domain of Unknown Function (DUF902)
PF08214 Histone acetylation protein
PF02172 KIX domain
PF02135 TAZ zinc finger
PF00569 Zinc finger

Function

Acetylates histones, giving a specific tag for transcriptional activation. Also acetylates non-histone proteins, like NCOA3 and FOXO1. Binds specifically to phosphorylated CREB and enhances its transcriptional activity toward cAMP-responsive genes. Acts as a coactivator of ALX1. Acts as a circadian transcriptional coactivator which enhances the activity of the circadian transcriptional activators: NPAS2-ARNTL/BMAL1 and CLOCK-ARNTL/BMAL1 heterodimers. Acetylates PCNA; acetylation promotes removal of chromatin-bound PCNA and its degradation during nucleotide excision repair (NER) (PubMed:24939902).

Classification

Class	Modification	Substrate	Product	PubMed
Histone modification write	Histone acetylation	#	#	8945521

> Gene Ontology [ TOP ]
Biological Process	GO:0001666 response to hypoxia GO:0001819 positive regulation of cytokine production GO:0002218 activation of innate immune response GO:0002220 innate immune response activating cell surface receptor signaling pathway GO:0002223 stimulatory C-type lectin receptor signaling pathway GO:0002429 immune response-activating cell surface receptor signaling pathway GO:0002757 immune response-activating signal transduction GO:0002758 innate immune response-activating signal transduction GO:0002764 immune response-regulating signaling pathway GO:0002768 immune response-regulating cell surface receptor signaling pathway GO:0006352 DNA-templated transcription, initiation GO:0006367 transcription initiation from RNA polymerase II promoter GO:0006473 protein acetylation GO:0006474 N-terminal protein amino acid acetylation GO:0006475 internal protein amino acid acetylation GO:0007219 Notch signaling pathway GO:0007224 smoothened signaling pathway GO:0008589 regulation of smoothened signaling pathway GO:0009266 response to temperature stimulus GO:0009314 response to radiation GO:0009408 response to heat GO:0009411 response to UV GO:0009416 response to light stimulus GO:0016570 histone modification GO:0016573 histone acetylation GO:0018076 N-terminal peptidyl-lysine acetylation GO:0018205 peptidyl-lysine modification GO:0018393 internal peptidyl-lysine acetylation GO:0018394 peptidyl-lysine acetylation GO:0030326 embryonic limb morphogenesis GO:0031349 positive regulation of defense response GO:0031365 N-terminal protein amino acid modification GO:0032479 regulation of type I interferon production GO:0032481 positive regulation of type I interferon production GO:0032606 type I interferon production GO:0034605 cellular response to heat GO:0034644 cellular response to UV GO:0035107 appendage morphogenesis GO:0035108 limb morphogenesis GO:0035113 embryonic appendage morphogenesis GO:0036293 response to decreased oxygen levels GO:0036294 cellular response to decreased oxygen levels GO:0042733 embryonic digit morphogenesis GO:0043543 protein acylation GO:0043618 regulation of transcription from RNA polymerase II promoter in response to stress GO:0043620 regulation of DNA-templated transcription in response to stress GO:0045088 regulation of innate immune response GO:0045089 positive regulation of innate immune response GO:0048511 rhythmic process GO:0048736 appendage development GO:0060173 limb development GO:0061418 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0070482 response to oxygen levels GO:0071214 cellular response to abiotic stimulus GO:0071453 cellular response to oxygen levels GO:0071456 cellular response to hypoxia GO:0071478 cellular response to radiation GO:0071482 cellular response to light stimulus GO:1900034 regulation of cellular response to heat GO:1904837 beta-catenin-TCF complex assembly
Molecular Function	GO:0000982 transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0000987 core promoter proximal region sequence-specific DNA binding GO:0001076 transcription factor activity, RNA polymerase II transcription factor binding GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001085 RNA polymerase II transcription factor binding GO:0001102 RNA polymerase II activating transcription factor binding GO:0001104 RNA polymerase II transcription cofactor activity GO:0001105 RNA polymerase II transcription coactivator activity GO:0001159 core promoter proximal region DNA binding GO:0001190 transcriptional activator activity, RNA polymerase II transcription factor binding GO:0001191 transcriptional repressor activity, RNA polymerase II transcription factor binding GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0002039 p53 binding GO:0003682 chromatin binding GO:0003684 damaged DNA binding GO:0003713 transcription coactivator activity GO:0004402 histone acetyltransferase activity GO:0008080 N-acetyltransferase activity GO:0008134 transcription factor binding GO:0016407 acetyltransferase activity GO:0016410 N-acyltransferase activity GO:0016746 transferase activity, transferring acyl groups GO:0016747 transferase activity, transferring acyl groups other than amino-acyl groups GO:0033613 activating transcription factor binding GO:0034212 peptide N-acetyltransferase activity GO:0043425 bHLH transcription factor binding GO:0043426 MRF binding GO:0061733 peptide-lysine-N-acetyltransferase activity GO:0098811 transcriptional repressor activity, RNA polymerase II activating transcription factor binding
Cellular Component	GO:0000123 histone acetyltransferase complex GO:0000785 chromatin GO:0000790 nuclear chromatin GO:0016604 nuclear body GO:0031248 protein acetyltransferase complex GO:0044454 nuclear chromosome part GO:1902493 acetyltransferase complex

> KEGG and Reactome Pathway [ TOP ]
KEGG	hsa04024 cAMP signaling pathway hsa04066 HIF-1 signaling pathway hsa04068 FoxO signaling pathway hsa04110 Cell cycle hsa04310 Wnt signaling pathway hsa04330 Notch signaling pathway hsa04350 TGF-beta signaling pathway hsa04520 Adherens junction hsa04630 Jak-STAT signaling pathway hsa04720 Long-term potentiation hsa04916 Melanogenesis hsa04919 Thyroid hormone signaling pathway hsa04922 Glucagon signaling pathway
Reactome	R-HSA-5619507: Activation of HOX genes during differentiation R-HSA-5617472: Activation of anterior HOX genes in hindbrain development during early embryogenesis R-HSA-2426168: Activation of gene expression by SREBF (SREBP) R-HSA-8866907: Activation of the TFAP2 (AP-2) family of transcription factors R-HSA-3371568: Attenuation phase R-HSA-1368108: BMAL1 R-HSA-5621481: C-type lectin receptors (CLRs) R-HSA-5621575: CD209 (DC-SIGN) signaling R-HSA-3371556: Cellular response to heat stress R-HSA-2262749: Cellular response to hypoxia R-HSA-2262752: Cellular responses to stress R-HSA-3247509: Chromatin modifying enzymes R-HSA-4839726: Chromatin organization R-HSA-400253: Circadian Clock R-HSA-2894862: Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants R-HSA-2644606: Constitutive Signaling by NOTCH1 PEST Domain Mutants R-HSA-1834949: Cytosolic sensors of pathogen-associated DNA R-HSA-1266738: Developmental Biology R-HSA-1643685: Disease R-HSA-5663202: Diseases of signal transduction R-HSA-983231: Factors involved in megakaryocyte development and platelet production R-HSA-535734: Fatty acid, triacylglycerol, and ketone body metabolism R-HSA-201722: Formation of the beta-catenin R-HSA-74160: Gene Expression R-HSA-212436: Generic Transcription Pathway R-HSA-3214847: HATs acetylate histones R-HSA-3371571: HSF1-dependent transactivation R-HSA-109582: Hemostasis R-HSA-168256: Immune System R-HSA-168249: Innate Immune System R-HSA-3134973: LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production R-HSA-1430728: Metabolism R-HSA-556833: Metabolism of lipids and lipoproteins R-HSA-1592230: Mitochondrial biogenesis R-HSA-157052: NICD traffics to nucleus R-HSA-2122947: NOTCH1 Intracellular Domain Regulates Transcription R-HSA-350054: Notch-HLH transcription pathway R-HSA-1852241: Organelle biogenesis and maintenance R-HSA-1989781: PPARA activates gene expression R-HSA-1912422: Pre-NOTCH Expression and Processing R-HSA-1912408: Pre-NOTCH Transcription and Translation R-HSA-168928: RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways R-HSA-1368082: RORA activates gene expression R-HSA-1234174: Regulation of Hypoxia-inducible Factor (HIF) by oxygen R-HSA-1655829: Regulation of cholesterol biosynthesis by SREBP (SREBF) R-HSA-1234158: Regulation of gene expression by Hypoxia-inducible Factor R-HSA-400206: Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) R-HSA-162582: Signal Transduction R-HSA-157118: Signaling by NOTCH R-HSA-1980143: Signaling by NOTCH1 R-HSA-2894858: Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer R-HSA-2644602: Signaling by NOTCH1 PEST Domain Mutants in Cancer R-HSA-2644603: Signaling by NOTCH1 in Cancer R-HSA-195721: Signaling by Wnt R-HSA-201681: TCF dependent signaling in response to WNT R-HSA-5633008: TP53 Regulates Transcription of Cell Death Genes R-HSA-6803204: TP53 Regulates Transcription of Genes Involved in Cytochrome C Release R-HSA-918233: TRAF3-dependent IRF activation pathway R-HSA-933541: TRAF6 mediated IRF7 activation R-HSA-3700989: Transcriptional Regulation by TP53 R-HSA-2151201: Transcriptional activation of mitochondrial biogenesis R-HSA-8864260: Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors R-HSA-381340: Transcriptional regulation of white adipocyte differentiation R-HSA-2032785: YAP1- and WWTR1 (TAZ)-stimulated gene expression

> KEGG and Reactome Pathway

[ TOP ]

KEGG

hsa04024 cAMP signaling pathway
hsa04066 HIF-1 signaling pathway
hsa04068 FoxO signaling pathway
hsa04110 Cell cycle
hsa04310 Wnt signaling pathway
hsa04330 Notch signaling pathway
hsa04350 TGF-beta signaling pathway
hsa04520 Adherens junction
hsa04630 Jak-STAT signaling pathway
hsa04720 Long-term potentiation
hsa04916 Melanogenesis
hsa04919 Thyroid hormone signaling pathway
hsa04922 Glucagon signaling pathway

Reactome

R-HSA-5619507: Activation of HOX genes during differentiation
R-HSA-5617472: Activation of anterior HOX genes in hindbrain development during early embryogenesis
R-HSA-2426168: Activation of gene expression by SREBF (SREBP)
R-HSA-8866907: Activation of the TFAP2 (AP-2) family of transcription factors
R-HSA-3371568: Attenuation phase
R-HSA-1368108: BMAL1
R-HSA-5621481: C-type lectin receptors (CLRs)
R-HSA-5621575: CD209 (DC-SIGN) signaling
R-HSA-3371556: Cellular response to heat stress
R-HSA-2262749: Cellular response to hypoxia
R-HSA-2262752: Cellular responses to stress
R-HSA-3247509: Chromatin modifying enzymes
R-HSA-4839726: Chromatin organization
R-HSA-400253: Circadian Clock
R-HSA-2894862: Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
R-HSA-2644606: Constitutive Signaling by NOTCH1 PEST Domain Mutants
R-HSA-1834949: Cytosolic sensors of pathogen-associated DNA
R-HSA-1266738: Developmental Biology
R-HSA-1643685: Disease
R-HSA-5663202: Diseases of signal transduction
R-HSA-983231: Factors involved in megakaryocyte development and platelet production
R-HSA-535734: Fatty acid, triacylglycerol, and ketone body metabolism
R-HSA-201722: Formation of the beta-catenin
R-HSA-74160: Gene Expression
R-HSA-212436: Generic Transcription Pathway
R-HSA-3214847: HATs acetylate histones
R-HSA-3371571: HSF1-dependent transactivation
R-HSA-109582: Hemostasis
R-HSA-168256: Immune System
R-HSA-168249: Innate Immune System
R-HSA-3134973: LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production
R-HSA-1430728: Metabolism
R-HSA-556833: Metabolism of lipids and lipoproteins
R-HSA-1592230: Mitochondrial biogenesis
R-HSA-157052: NICD traffics to nucleus
R-HSA-2122947: NOTCH1 Intracellular Domain Regulates Transcription
R-HSA-350054: Notch-HLH transcription pathway
R-HSA-1852241: Organelle biogenesis and maintenance
R-HSA-1989781: PPARA activates gene expression
R-HSA-1912422: Pre-NOTCH Expression and Processing
R-HSA-1912408: Pre-NOTCH Transcription and Translation
R-HSA-168928: RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways
R-HSA-1368082: RORA activates gene expression
R-HSA-1234174: Regulation of Hypoxia-inducible Factor (HIF) by oxygen
R-HSA-1655829: Regulation of cholesterol biosynthesis by SREBP (SREBF)
R-HSA-1234158: Regulation of gene expression by Hypoxia-inducible Factor
R-HSA-400206: Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
R-HSA-162582: Signal Transduction
R-HSA-157118: Signaling by NOTCH
R-HSA-1980143: Signaling by NOTCH1
R-HSA-2894858: Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer
R-HSA-2644602: Signaling by NOTCH1 PEST Domain Mutants in Cancer
R-HSA-2644603: Signaling by NOTCH1 in Cancer
R-HSA-195721: Signaling by Wnt
R-HSA-201681: TCF dependent signaling in response to WNT
R-HSA-5633008: TP53 Regulates Transcription of Cell Death Genes
R-HSA-6803204: TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
R-HSA-918233: TRAF3-dependent IRF activation pathway
R-HSA-933541: TRAF6 mediated IRF7 activation
R-HSA-3700989: Transcriptional Regulation by TP53
R-HSA-2151201: Transcriptional activation of mitochondrial biogenesis
R-HSA-8864260: Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors
R-HSA-381340: Transcriptional regulation of white adipocyte differentiation
R-HSA-2032785: YAP1- and WWTR1 (TAZ)-stimulated gene expression

Summary
Symbol	CREBBP
Name	CREB binding protein
Aliases	KAT3A; RSTS; Rubinstein-Taybi syndrome; CREB-binding protein
Location	16p13.3
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
COSM3787160	c.5024A>G	p.H1675R	Substitution - Missense	Pancreas
COSM2919906	c.6227C>T	p.S2076L	Substitution - Missense	Skin
COSM96444	c.5660C>G	p.S1887*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM417011	c.4990C>T	p.R1664C	Substitution - Missense	Large_intestine
COSM5012968	c.3828C>A	p.D1276E	Substitution - Missense	Kidney
COSM5047361	c.6457G>A	p.G2153S	Substitution - Missense	Oesophagus
COSM254631	c.6983C>T	p.S2328L	Substitution - Missense	Urinary_tract
COSM88753	c.4506G>T	p.W1502C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1180829	c.3250delA	p.I1084fs*15	Deletion - Frameshift	Large_intestine
COSM4060706	c.4624G>A	p.G1542S	Substitution - Missense	Stomach
COSM88748	c.4337G>A	p.R1446H	Substitution - Missense	Stomach
COSM1202274	c.1855G>A	p.A619T	Substitution - Missense	Large_intestine
COSM84329	c.6841G>A	p.A2281T	Substitution - Missense	Pancreas
COSM1609321	c.2284-5C>G	p.?	Unknown	Liver
COSM88741	c.4444T>C	p.Y1482H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM88749	c.4336C>T	p.R1446C	Substitution - Missense	Large_intestine
COSM88759	c.2254C>T	p.Q752*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM291735	c.5039_5041delCCT	p.S1680delS	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM5663064	c.2464G>T	p.G822*	Substitution - Nonsense	Soft_tissue
COSM4634083	c.5813C>A	p.P1938H	Substitution - Missense	Large_intestine
COSM970582	c.3435G>A	p.G1145G	Substitution - coding silent	Endometrium
COSM242504	c.3461T>C	p.V1154A	Substitution - Missense	Prostate
COSM4651265	c.6033C>T	p.P2011P	Substitution - coding silent	Large_intestine
COSM5966846	c.58C>A	p.P20T	Substitution - Missense	Adrenal_gland
COSM970590	c.2811G>A	p.P937P	Substitution - coding silent	Endometrium
COSM5019155	c.5454G>A	p.V1818V	Substitution - coding silent	Soft_tissue
COSM3509568	c.852A>T	p.G284G	Substitution - coding silent	Skin
COSM3988468	c.6030G>A	p.G2010G	Substitution - coding silent	Kidney
COSM4384875	c.328G>T	p.A110S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4455041	c.6476A>T	p.Q2159L	Substitution - Missense	Skin
COSM4613429	c.4268delC	p.P1423fs*36	Deletion - Frameshift	Large_intestine
COSM4674645	c.5954G>A	p.R1985H	Substitution - Missense	Large_intestine
COSM96448	c.?	p.P858S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1238064	c.?	p.?	Unknown	Soft_tissue
COSM5599342	c.7047C>T	p.V2349V	Substitution - coding silent	Skin
COSM96469	c.5933A>G	p.N1978S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM255286	c.1621C>T	p.Q541*	Substitution - Nonsense	Central_nervous_system
COSM703033	c.4303G>T	p.D1435Y	Substitution - Missense	Lung
COSM4129055	c.2598G>T	p.M866I	Substitution - Missense	Thyroid
COSM5913754	c.4678G>A	p.E1560K	Substitution - Missense	Skin
COSM3988471	c.942C>T	p.I314I	Substitution - coding silent	Kidney
COSM4604059	c.1100G>T	p.C367F	Substitution - Missense	Upper_aerodigestive_tract
COSM703026	c.2103G>A	p.V701V	Substitution - coding silent	Lung
COSM1301962	c.235G>A	p.G79S	Substitution - Missense	Urinary_tract
COSM5809132	c.6770A>T	p.Q2257L	Substitution - Missense	Liver
COSM88763	c.4078C>T	p.R1360*	Substitution - Nonsense	Stomach
COSM4600022	c.3274C>T	p.Q1092*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM96481	c.?_?del?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM352596	c.4648G>C	p.E1550Q	Substitution - Missense	Large_intestine
COSM1478865	c.7115C>T	p.S2372L	Substitution - Missense	Breast
COSM5751858	c.2701_2702insA	p.P901fs*69	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM21711	c.248A>C	p.N83T	Substitution - Missense	Lung
COSM318347	c.4232G>T	p.G1411V	Substitution - Missense	Soft_tissue
COSM5762852	c.6980C>T	p.A2327V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM221505	c.3310C>T	p.Q1104*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1196579	c.4416G>T	p.W1472C	Substitution - Missense	Lung
COSM5946446	c.3988C>T	p.Q1330*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5563371	c.5723A>G	p.Q1908R	Substitution - Missense	Prostate
COSM3734328	c.6484G>C	p.G2162R	Substitution - Missense	Pancreas
COSM4896231	c.7323C>T	p.G2441G	Substitution - coding silent	Skin
COSM4674656	c.711C>T	p.S237S	Substitution - coding silent	Large_intestine
COSM231338	c.7088C>T	p.P2363L	Substitution - Missense	Skin
COSM3817961	c.5063C>T	p.T1688M	Substitution - Missense	Breast
COSM2920000	c.3250_3250+1insA	p.I1084fs*3	Unknown	Large_intestine
COSM4655243	c.2325G>A	p.M775I	Substitution - Missense	Large_intestine
COSM3509560	c.2782C>T	p.P928S	Substitution - Missense	Skin
COSM1478868	c.3271C>T	p.R1091C	Substitution - Missense	Breast
COSM5656318	c.1942-1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5606450	c.3862C>T	p.R1288W	Substitution - Missense	Skin
COSM5048309	c.1074_1075insAG	p.V359fs*31	Insertion - Frameshift	Oesophagus
COSM1377858	c.1801C>T	p.R601W	Substitution - Missense	Large_intestine
COSM1744876	c.2498_2499delTC	p.L833fs*136	Deletion - Frameshift	Biliary_tract
COSM255965	c.1447C>T	p.R483*	Substitution - Nonsense	Central_nervous_system
COSM5054884	c.4340C>T	p.T1447I	Substitution - Missense	Stomach
COSM3509562	c.2122C>T	p.L708L	Substitution - coding silent	Skin
COSM254635	c.1258A>T	p.K420*	Substitution - Nonsense	Urinary_tract
COSM5019155	c.5454G>A	p.V1818V	Substitution - coding silent	Soft_tissue
COSM88742	c.4459C>T	p.H1487Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5651884	c.4463C>A	p.P1488Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM260287	c.5470G>A	p.A1824T	Substitution - Missense	Lung
COSM166408	c.4471C>A	p.Q1491K	Substitution - Missense	Central_nervous_system
COSM280131	c.270C>T	p.S90S	Substitution - coding silent	Large_intestine
COSM5496272	c.1078C>G	p.L360V	Substitution - Missense	Biliary_tract
COSM1316076	c.4303G>A	p.D1435N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM254633	c.2515C>T	p.Q839*	Substitution - Nonsense	Urinary_tract
COSM88744	c.4507T>C	p.Y1503H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4260257	c.687A>T	p.P229P	Substitution - coding silent	Large_intestine
COSM88748	c.4337G>A	p.R1446H	Substitution - Missense	Oesophagus
COSM166408	c.4471C>A	p.Q1491K	Substitution - Missense	Central_nervous_system
COSM1377839	c.3882C>T	p.C1294C	Substitution - coding silent	Large_intestine
COSM1736424	c.1945G>A	p.E649K	Substitution - Missense	Central_nervous_system
COSM6001942	c.1779C>T	p.H593H	Substitution - coding silent	Prostate
COSM213966	c.3242G>A	p.R1081H	Substitution - Missense	Breast
COSM3667851	c.6012A>T	p.R2004R	Substitution - coding silent	Liver
COSM1324453	c.3911_3914+10delCAGGGTGAGTTGTT	p.?	Unknown	Ovary
COSM4490056	c.3570C>T	p.D1190D	Substitution - coding silent	Skin
COSM96450	c.?	p.R386*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM317183	c.3697A>T	p.R1233W	Substitution - Missense	Soft_tissue
COSM2919921	c.5573G>A	p.R1858H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5019178	c.7212A>G	p.E2404E	Substitution - coding silent	Soft_tissue
COSM5701405	c.1108_1109insT	p.R370fs*57	Insertion - Frameshift	Soft_tissue
COSM3957565	c.4627G>T	p.D1543Y	Substitution - Missense	Lung
COSM88749	c.4336C>T	p.R1446C	Substitution - Missense	Upper_aerodigestive_tract
COSM268947	c.5087A>G	p.H1696R	Substitution - Missense	Large_intestine
COSM5032981	c.3729G>A	p.E1243E	Substitution - coding silent	Oesophagus
COSM254633	c.2515C>T	p.Q839*	Substitution - Nonsense	Urinary_tract
COSM4060699	c.5166G>A	p.V1722V	Substitution - coding silent	Stomach
COSM5622421	c.2302C>T	p.R768*	Substitution - Nonsense	Oesophagus
COSM3747999	c.2826T>C	p.P942P	Substitution - coding silent	Central_nervous_system
COSM3817962	c.4864T>C	p.Y1622H	Substitution - Missense	Breast
COSM2919915	c.5717delC	p.P1906fs*9	Deletion - Frameshift	Large_intestine
COSM1161163	c.4243C>T	p.Q1415*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4990893	c.598C>T	p.Q200*	Substitution - Nonsense	Skin
COSM5992002	c.6621_6629delACAACAGCA	p.Q2214_Q2216delQQQ	Deletion - In frame	Prostate
COSM96468	c.(5830_5832)insC	p.?fs	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4129054	c.2604T>A	p.S868S	Substitution - coding silent	Thyroid
COSM5656359	c.3874_3875insA	p.I1293fs*7	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1645457	c.2731C>T	p.Q911*	Substitution - Nonsense	Large_intestine
COSM5819992	c.1915G>T	p.D639Y	Substitution - Missense	Liver
COSM88744	c.4507T>C	p.Y1503H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170753	c.4501_4503delGAG	p.E1501delE	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM88749	c.4336C>T	p.R1446C	Substitution - Missense	Large_intestine
COSM4933407	c.2486T>C	p.L829P	Substitution - Missense	Liver
COSM88748	c.4337G>A	p.R1446H	Substitution - Missense	Upper_aerodigestive_tract
COSM1202273	c.6154C>T	p.R2052W	Substitution - Missense	Large_intestine
COSM4990882	c.4278G>A	p.T1426T	Substitution - coding silent	Skin
COSM1609322	c.1647_1654delAGCTCTTC	p.A550fs*18	Deletion - Frameshift	Liver
COSM88735	c.3959A>G	p.K1320R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM88771	c.4707_4708insGCACT	p.A1571fs*66	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM109344	c.1689C>G	p.N563K	Substitution - Missense	Skin
COSM148010	c.2784G>A	p.P928P	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM1645456	c.2861C>A	p.A954D	Substitution - Missense	Large_intestine
COSM4060719	c.1170C>T	p.N390N	Substitution - coding silent	Stomach
COSM95815	c.4860G>A	p.K1620K	Substitution - coding silent	Lung
COSM96416	c.3211G>A	p.A1071T	Substitution - Missense	Ovary
COSM970560	c.4901T>C	p.V1634A	Substitution - Missense	Endometrium
COSM970602	c.1937G>A	p.S646N	Substitution - Missense	Endometrium
COSM254633	c.2515C>T	p.Q839*	Substitution - Nonsense	Urinary_tract
COSM254629	c.3217C>T	p.Q1073*	Substitution - Nonsense	Urinary_tract
COSM254634	c.3779+1G>T	p.?	Unknown	Urinary_tract
COSM5363732	c.4504T>C	p.W1502R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM970578	c.3956G>A	p.R1319Q	Substitution - Missense	Endometrium
COSM4650376	c.6709C>A	p.P2237T	Substitution - Missense	Large_intestine
COSM291735	c.5039_5041delCCT	p.S1680delS	Deletion - In frame	Soft_tissue
COSM4060705	c.4740C>T	p.G1580G	Substitution - coding silent	Stomach
COSM3764561	c.3599G>A	p.C1200Y	Substitution - Missense	Central_nervous_system
COSM970614	c.732G>A	p.T244T	Substitution - coding silent	Endometrium
COSM254631	c.6983C>T	p.S2328L	Substitution - Missense	Urinary_tract
COSM254626	c.3874C>T	p.Q1292*	Substitution - Nonsense	Urinary_tract
COSM970598	c.2140C>T	p.R714C	Substitution - Missense	Endometrium
COSM4771563	c.3162_3169delAGTGAAAG	p.E1054fs*4	Deletion - Frameshift	Breast
COSM5802063	c.3622_3623insC	p.Q1209fs*25	Insertion - Frameshift	Breast
COSM5656383	c.3233_3250+30del48	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM260287	c.5470G>A	p.A1824T	Substitution - Missense	Biliary_tract
COSM2920042	c.1488C>T	p.P496P	Substitution - coding silent	Skin
COSM96412	c.1399G>A	p.A467T	Substitution - Missense	Ovary
COSM1189167	c.2965G>T	p.G989*	Substitution - Nonsense	Lung
COSM1301961	c.1996G>C	p.E666Q	Substitution - Missense	Urinary_tract
COSM3957563	c.5604G>A	p.R1868R	Substitution - coding silent	Lung
COSM2919990	c.3506G>A	p.R1169H	Substitution - Missense	Skin
COSM4674655	c.1669G>A	p.A557T	Substitution - Missense	Large_intestine
COSM5608139	c.5061C>T	p.S1687S	Substitution - coding silent	Skin
COSM460549	c.4627G>C	p.D1543H	Substitution - Missense	Cervix
COSM96468	c.(5830_5832)insC	p.?fs	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4388026	c.5267A>G	p.Q1756R	Substitution - Missense	Pancreas
COSM88747	c.4304A>G	p.D1435G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1377824	c.4506G>A	p.W1502*	Substitution - Nonsense	Liver
COSM435237	c.5406G>C	p.V1802V	Substitution - coding silent	Breast
COSM5760508	c.6604C>T	p.Q2202*	Substitution - Nonsense	Bone
COSM1609323	c.1460C>A	p.A487D	Substitution - Missense	Liver
COSM1377819	c.4874T>C	p.M1625T	Substitution - Missense	Stomach
COSM5656319	c.5034_5036delCTC	p.S1680delS	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM4167427	c.5560C>T	p.Q1854*	Substitution - Nonsense	Central_nervous_system
COSM166406	c.4231G>A	p.G1411R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1301957	c.4505G>A	p.W1502*	Substitution - Nonsense	Urinary_tract
COSM1377817	c.5204C>T	p.T1735M	Substitution - Missense	Large_intestine
COSM220500	c.4873A>G	p.M1625V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1249109	c.4209C>T	p.D1403D	Substitution - coding silent	Large_intestine
COSM970542	c.6441T>G	p.A2147A	Substitution - coding silent	Endometrium
COSM5724226	c.2867C>T	p.P956L	Substitution - Missense	Skin
COSM88748	c.4337G>A	p.R1446H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM88753	c.4506G>T	p.W1502C	Substitution - Missense	Urinary_tract
COSM4674639	c.7059G>T	p.R2353R	Substitution - coding silent	Large_intestine
COSM5652006	c.3234_3250+31del48	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4821768	c.5277A>T	p.P1759P	Substitution - coding silent	Cervix
COSM88753	c.4506G>T	p.W1502C	Substitution - Missense	Urinary_tract
COSM970574	c.4211G>T	p.G1404V	Substitution - Missense	Endometrium
COSM5647832	c.3172G>C	p.E1058Q	Substitution - Missense	Oesophagus
COSM5599342	c.7047C>T	p.V2349V	Substitution - coding silent	Skin
COSM3361761	c.2809C>A	p.P937T	Substitution - Missense	Kidney
COSM970558	c.4996G>A	p.A1666T	Substitution - Missense	Endometrium
COSM4384873	c.868G>A	p.A290T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1678808	c.3449C>A	p.P1150H	Substitution - Missense	Large_intestine
COSM88744	c.4507T>C	p.Y1503H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1301959	c.2666C>G	p.S889*	Substitution - Nonsense	Urinary_tract
COSM4674652	c.2667_2669delAAC	p.T890delT	Deletion - In frame	Large_intestine
COSM96481	c.?_?del?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1159753	c.4991G>T	p.R1664L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4674653	c.2237_2238insC	p.M747fs*85	Insertion - Frameshift	Large_intestine
COSM5949821	c.3609G>A	p.K1203K	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM703028	c.2441C>T	p.P814L	Substitution - Missense	Lung
COSM1640477	c.3468C>T	p.D1156D	Substitution - coding silent	Stomach
COSM96414	c.4061C>T	p.A1354V	Substitution - Missense	Ovary
COSM5945315	c.5284A>T	p.K1762*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1202276	c.7037C>T	p.P2346L	Substitution - Missense	Large_intestine
COSM1708694	c.3368C>T	p.P1123L	Substitution - Missense	Skin
COSM3509563	c.2064G>A	p.P688P	Substitution - coding silent	Large_intestine
COSM5833082	c.6150_6151insG	p.P2051fs*290	Insertion - Frameshift	Breast
COSM3817965	c.578C>G	p.S193C	Substitution - Missense	Breast
COSM221505	c.3310C>T	p.Q1104*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM254625	c.4336C>G	p.R1446G	Substitution - Missense	Urinary_tract
COSM1180829	c.3250delA	p.I1084fs*15	Deletion - Frameshift	Stomach
COSM970536	c.7089G>A	p.P2363P	Substitution - coding silent	Large_intestine
COSM96460	c.760G>A	p.A254T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4579033	c.113delA	p.N38fs*7	Deletion - Frameshift	Bone
COSM1189166	c.4008C>G	p.N1336K	Substitution - Missense	Lung
COSM220496	c.4307G>A	p.S1436N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3988470	c.3148G>T	p.E1050*	Substitution - Nonsense	Kidney
COSM293366	c.2178C>T	p.P726P	Substitution - coding silent	Large_intestine
COSM1161163	c.4243C>T	p.Q1415*	Substitution - Nonsense	Skin
COSM4420002	c.6551G>A	p.S2184N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4060711	c.3415A>G	p.K1139E	Substitution - Missense	Stomach
COSM3420981	c.3832G>A	p.E1278K	Substitution - Missense	Skin
COSM1202272	c.1238G>A	p.R413Q	Substitution - Missense	Large_intestine
COSM1478866	c.5982G>C	p.Q1994H	Substitution - Missense	Breast
COSM88749	c.4336C>T	p.R1446C	Substitution - Missense	Liver
COSM212243	c.3334C>T	p.R1112W	Substitution - Missense	Breast
COSM4830676	c.674C>T	p.P225L	Substitution - Missense	Cervix
COSM5606450	c.3862C>T	p.R1288W	Substitution - Missense	Skin
COSM3387435	c.5343C>T	p.H1781H	Substitution - coding silent	Pancreas
COSM291735	c.5039_5041delCCT	p.S1680delS	Deletion - In frame	Oesophagus
COSM6016024	c.7013C>G	p.S2338C	Substitution - Missense	Skin
COSM88738	c.4337G>T	p.R1446L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5454450	c.7023C>A	p.N2341K	Substitution - Missense	Large_intestine
COSM417010	c.3454C>T	p.Q1152*	Substitution - Nonsense	Urinary_tract
COSM460547	c.637C>T	p.L213F	Substitution - Missense	Cervix
COSM5419554	c.3247A>T	p.K1083*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4170754	c.4451T>C	p.F1484S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3356828	c.4463C>T	p.P1488L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM252982	c.3370-5_3370-4delTT	p.?	Unknown	Ovary
COSM21712	c.2809C>T	p.P937S	Substitution - Missense	Skin
COSM4748955	c.3722T>A	p.F1241Y	Substitution - Missense	Stomach
COSM96453	c.?	p.C1408Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1640477	c.3468C>T	p.D1156D	Substitution - coding silent	Stomach
COSM4170752	c.5040_5042delCTT	p.L1681delL	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM88748	c.4337G>A	p.R1446H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM96416	c.3211G>A	p.A1071T	Substitution - Missense	Ovary
COSM4060707	c.4556A>G	p.Y1519C	Substitution - Missense	Stomach
COSM96481	c.?_?del?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM88748	c.4337G>A	p.R1446H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM88757	c.466C>T	p.Q156*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5025098	c.5790delC	p.T1931fs*45	Deletion - Frameshift	Breast
COSM5945314	c.5566C>T	p.Q1856*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1236407	c.4681G>T	p.E1561*	Substitution - Nonsense	Autonomic_ganglia
COSM126635	c.1507C>T	p.Q503*	Substitution - Nonsense	Lung
COSM96451	c.?	p.P688A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1678810	c.1171G>A	p.V391I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM291735	c.5039_5041delCCT	p.S1680delS	Deletion - In frame	Large_intestine
COSM5945316	c.4246G>T	p.E1416*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5651493	c.4445A>C	p.Y1482S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5608147	c.1076T>C	p.V359A	Substitution - Missense	Skin
COSM970600	c.2015G>A	p.R672H	Substitution - Missense	Endometrium
COSM5752051	c.5848C>CT	p.Q1950fs*16	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM3361760	c.3622C>A	p.P1208T	Substitution - Missense	Kidney
COSM1661273	c.2567C>T	p.T856I	Substitution - Missense	Kidney
COSM96466	c.3710G>A	p.C1237Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4674649	c.3605G>A	p.R1202H	Substitution - Missense	Large_intestine
COSM249379	c.5418G>C	p.K1806N	Substitution - Missense	Kidney
COSM5435932	c.6334C>G	p.Q2112E	Substitution - Missense	Oesophagus
COSM88749	c.4336C>T	p.R1446C	Substitution - Missense	Central_nervous_system
COSM88748	c.4337G>A	p.R1446H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5606450	c.3862C>T	p.R1288W	Substitution - Missense	Skin
COSM4506277	c.7153C>T	p.P2385S	Substitution - Missense	Skin
COSM5487609	c.1760_1761insG	p.V588fs*20	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM88749	c.4336C>T	p.R1446C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2919944	c.5039C>T	p.S1680F	Substitution - Missense	Skin
COSM4674637	c.7175C>T	p.A2392V	Substitution - Missense	Large_intestine
COSM5608137	c.2012C>A	p.S671*	Substitution - Nonsense	Skin
COSM88764	c.3375T>A	p.Y1125*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM88745	c.4508A>T	p.Y1503F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM178780	c.6451C>T	p.R2151W	Substitution - Missense	Upper_aerodigestive_tract
COSM96445	c.4689G>C	p.R1563S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5034000	c.5838A>C	p.P1946P	Substitution - coding silent	Skin
COSM970544	c.6424C>A	p.L2142M	Substitution - Missense	Endometrium
COSM88745	c.4508A>T	p.Y1503F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166405	c.4232G>A	p.G1411E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4571305	c.4288T>G	p.Y1430D	Substitution - Missense	Skin
COSM2920037	c.1717A>G	p.T573A	Substitution - Missense	Large_intestine
COSM4972772	c.1095delT	p.H365fs*24	Deletion - Frameshift	Oesophagus
COSM5606450	c.3862C>T	p.R1288W	Substitution - Missense	Skin
COSM88744	c.4507T>C	p.Y1503H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5346608	c.4275C>G	p.N1425K	Substitution - Missense	Urinary_tract
COSM1301960	c.2080G>C	p.V694L	Substitution - Missense	Urinary_tract
COSM435238	c.2390_2391insA	p.N797fs*35	Insertion - Frameshift	Breast
COSM96413	c.2678C>T	p.S893L	Substitution - Missense	Breast
COSM4674647	c.4163C>T	p.S1388F	Substitution - Missense	Large_intestine
COSM1563118	c.3775C>T	p.Q1259*	Substitution - Nonsense	Large_intestine
COSM4384866	c.5621C>T	p.T1874I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3728526	c.1923C>T	p.Y641Y	Substitution - coding silent	Stomach
COSM79348	c.4021C>T	p.R1341*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3732528	c.4396_4397insT	p.Y1466fs*13	Insertion - Frameshift	Stomach
COSM4384869	c.4640A>G	p.N1547S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2919997	c.3323C>T	p.S1108L	Substitution - Missense	Breast
COSM1249109	c.4209C>T	p.D1403D	Substitution - coding silent	Oesophagus
COSM3957564	c.5048G>C	p.R1683P	Substitution - Missense	Lung
COSM4852995	c.3172G>T	p.E1058*	Substitution - Nonsense	Cervix
COSM122354	c.4561G>T	p.D1521Y	Substitution - Missense	Upper_aerodigestive_tract
COSM5608144	c.4971C>T	p.S1657S	Substitution - coding silent	Skin
COSM3509551	c.6311G>C	p.R2104P	Substitution - Missense	Skin
COSM4443886	c.5944C>T	p.P1982S	Substitution - Missense	Large_intestine
COSM471712	c.878T>C	p.V293A	Substitution - Missense	Kidney
COSM5882713	c.3670_3691del22	p.D1224fs*19	Deletion - Frameshift	Large_intestine
COSM5363732	c.4504T>C	p.W1502R	Substitution - Missense	Large_intestine
COSM4579030	c.6763C>T	p.P2255S	Substitution - Missense	Bone
COSM88748	c.4337G>A	p.R1446H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1290519	c.35C>A	p.P12H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM88759	c.2254C>T	p.Q752*	Substitution - Nonsense	Skin
COSM5003455	c.2900G>A	p.S967N	Substitution - Missense	Pancreas
COSM4997568	c.5635C>A	p.Q1879K	Substitution - Missense	Large_intestine
COSM88734	c.3718T>C	p.C1240R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5706124	c.6893A>G	p.Q2298R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166411	c.3836+1G>A	p.?	Unknown	Liver
COSM5019178	c.7212A>G	p.E2404E	Substitution - coding silent	Soft_tissue
COSM1301956	c.4617T>G	p.Y1539*	Substitution - Nonsense	Urinary_tract
COSM4060708	c.4412T>A	p.I1471N	Substitution - Missense	Stomach
COSM4605184	c.3483C>T	p.F1161F	Substitution - coding silent	Upper_aerodigestive_tract
COSM3736955	c.4298A>G	p.Y1433C	Substitution - Missense	Lung
COSM4627414	c.1053C>T	p.R351R	Substitution - coding silent	Large_intestine
COSM291735	c.5039_5041delCCT	p.S1680delS	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM2920068	c.416G>A	p.S139N	Substitution - Missense	Biliary_tract
COSM88749	c.4336C>T	p.R1446C	Substitution - Missense	Upper_aerodigestive_tract
COSM3509570	c.391C>T	p.P131S	Substitution - Missense	Skin
COSM1180829	c.3250delA	p.I1084fs*15	Deletion - Frameshift	Large_intestine
COSM4384870	c.3829C>G	p.P1277A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3509550	c.7005C>T	p.I2335I	Substitution - coding silent	Skin
COSM254629	c.3217C>T	p.Q1073*	Substitution - Nonsense	Urinary_tract
COSM703029	c.2827C>T	p.Q943*	Substitution - Nonsense	Lung
COSM4170761	c.2608C>T	p.Q870*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4384864	c.6823G>A	p.G2275R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3771943	c.4817A>G	p.K1606R	Substitution - Missense	Pancreas
COSM2919930	c.5410C>T	p.H1804Y	Substitution - Missense	Large_intestine
COSM4593308	c.6682C>G	p.H2228D	Substitution - Missense	Upper_aerodigestive_tract
COSM3672255	c.4148G>T	p.G1383V	Substitution - Missense	Prostate
COSM4170759	c.3982+2T>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5945319	c.1780G>T	p.E594*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM254626	c.3874C>T	p.Q1292*	Substitution - Nonsense	Urinary_tract
COSM4789576	c.501C>T	p.A167A	Substitution - coding silent	Liver
COSM88752	c.4496T>C	p.L1499P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM88775	c.1573+2T>C	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM96465	c.3269T>A	p.L1090*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM88756	c.286C>T	p.Q96*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5608142	c.1899T>C	p.A633A	Substitution - coding silent	Skin
COSM5897923	c.4118C>T	p.P1373L	Substitution - Missense	Skin
COSM5724226	c.2867C>T	p.P956L	Substitution - Missense	Skin
COSM5945317	c.2318C>T	p.P773L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM291735	c.5039_5041delCCT	p.S1680delS	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM703020	c.170G>T	p.G57V	Substitution - Missense	Lung
COSM703029	c.2827C>T	p.Q943*	Substitution - Nonsense	Breast
COSM4502116	c.6052C>T	p.P2018S	Substitution - Missense	Skin
COSM4482913	c.2651C>T	p.A884V	Substitution - Missense	Skin
COSM254635	c.1258A>T	p.K420*	Substitution - Nonsense	Urinary_tract
COSM970552	c.5344G>A	p.A1782T	Substitution - Missense	Large_intestine
COSM4990890	c.1614A>G	p.T538T	Substitution - coding silent	Skin
COSM396944	c.2499C>G	p.L833L	Substitution - coding silent	Urinary_tract
COSM4060690	c.7161C>T	p.L2387L	Substitution - coding silent	Stomach
COSM1658798	c.4051delC	p.H1351fs*25	Deletion - Frameshift	Salivary_gland
COSM6001941	c.3299C>T	p.A1100V	Substitution - Missense	Prostate
COSM148010	c.2784G>A	p.P928P	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM337449	c.3147T>C	p.D1049D	Substitution - coding silent	Lung
COSM5576011	c.5447G>T	p.C1816F	Substitution - Missense	Stomach
COSM3937063	c.5386C>T	p.Q1796*	Substitution - Nonsense	Oesophagus
COSM88749	c.4336C>T	p.R1446C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2919890	c.7112C>T	p.P2371L	Substitution - Missense	Skin
COSM95814	c.5475C>G	p.L1825L	Substitution - coding silent	Lung
COSM88749	c.4336C>T	p.R1446C	Substitution - Missense	Salivary_gland
COSM88749	c.4336C>T	p.R1446C	Substitution - Missense	Salivary_gland
COSM4170757	c.4307G>T	p.S1436I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5495182	c.1052G>T	p.R351L	Substitution - Missense	Biliary_tract
COSM5584914	c.2488C>T	p.P830S	Substitution - Missense	Skin
COSM148010	c.2784G>A	p.P928P	Substitution - coding silent	Stomach
COSM4595334	c.5264_5283del20	p.S1755fs*204	Deletion - Frameshift	Upper_aerodigestive_tract
COSM4593308	c.6682C>G	p.H2228D	Substitution - Missense	Upper_aerodigestive_tract
COSM4169377	c.4404_4405delAG	p.G1469fs*9	Deletion - Frameshift	Breast
COSM1301958	c.3427G>C	p.D1143H	Substitution - Missense	Urinary_tract
COSM88749	c.4336C>T	p.R1446C	Substitution - Missense	Oesophagus
COSM318346	c.4179C>G	p.T1393T	Substitution - coding silent	Lung
COSM1741789	c.4094C>G	p.S1365*	Substitution - Nonsense	Urinary_tract
COSM4502816	c.6237C>T	p.S2079S	Substitution - coding silent	Skin
COSM5702561	c.4561-1G>A	p.?	Unknown	Liver
COSM970568	c.4317C>A	p.F1439L	Substitution - Missense	Endometrium
COSM970576	c.4034T>G	p.F1345C	Substitution - Missense	Endometrium
COSM970596	c.2294C>A	p.S765Y	Substitution - Missense	Endometrium
COSM1324454	c.4280+1G>T	p.?	Unknown	Ovary
COSM96447	c.?	p.G2229S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1661274	c.1645T>G	p.S549A	Substitution - Missense	Kidney
COSM1301955	c.5895G>A	p.E1965E	Substitution - coding silent	Urinary_tract
COSM4920089	c.6428A>G	p.N2143S	Substitution - Missense	Liver
COSM5612099	c.913A>C	p.N305H	Substitution - Missense	Adrenal_gland
COSM254627	c.310C>T	p.Q104*	Substitution - Nonsense	Urinary_tract
COSM88749	c.4336C>T	p.R1446C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4387385	c.1955A>G	p.H652R	Substitution - Missense	Lung
COSM1659201	c.2159-9C>T	p.?	Unknown	Kidney
COSM5967313	c.1372_1373ins10	p.G458fs*18	Insertion - Frameshift	Salivary_gland
COSM1172330	c.4807G>T	p.A1603S	Substitution - Missense	Oesophagus
COSM6005471	c.4993G>A	p.D1665N	Substitution - Missense	Breast
COSM88745	c.4508A>T	p.Y1503F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM417009	c.3221C>G	p.S1074*	Substitution - Nonsense	Urinary_tract
COSM88742	c.4459C>T	p.H1487Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM88748	c.4337G>A	p.R1446H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM270820	c.5424C>A	p.C1808*	Substitution - Nonsense	Large_intestine
COSM3420984	c.212C>T	p.S71L	Substitution - Missense	Cervix
COSM970564	c.4483A>T	p.K1495*	Substitution - Nonsense	Endometrium
COSM3509557	c.3329C>G	p.P1110R	Substitution - Missense	Skin
COSM254628	c.1063C>T	p.Q355*	Substitution - Nonsense	Urinary_tract
COSM4674642	c.6325G>A	p.V2109M	Substitution - Missense	Large_intestine
COSM5947980	c.1775G>A	p.W592*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM970548	c.6281C>T	p.P2094L	Substitution - Missense	Endometrium
COSM318345	c.5140G>T	p.V1714L	Substitution - Missense	Lung
COSM2920056	c.1123G>T	p.G375*	Substitution - Nonsense	Oesophagus
COSM4060703	c.4900G>A	p.V1634M	Substitution - Missense	Stomach
COSM96472	c.2064delG	p.A690fs*5	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5904632	c.4424C>T	p.P1475L	Substitution - Missense	Skin
COSM5982028	c.?	p.M747V	Substitution - Missense	Pancreas
COSM220976	c.1307C>T	p.A436V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM396944	c.2499C>G	p.L833L	Substitution - coding silent	Lung
COSM5608140	c.823C>T	p.P275S	Substitution - Missense	Skin
COSM4674654	c.2012C>T	p.S671L	Substitution - Missense	Large_intestine
COSM970534	c.7192G>T	p.G2398*	Substitution - Nonsense	Endometrium
COSM4060703	c.4900G>A	p.V1634M	Substitution - Missense	Skin
COSM703024	c.1810C>T	p.L604L	Substitution - coding silent	Lung
COSM96454	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3509569	c.569A>T	p.N190I	Substitution - Missense	Skin
COSM703027	c.2331T>C	p.G777G	Substitution - coding silent	Lung
COSM220497	c.4496T>A	p.L1499Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5882714	c.2998G>A	p.E1000K	Substitution - Missense	Upper_aerodigestive_tract
COSM970550	c.5698C>G	p.P1900A	Substitution - Missense	Endometrium
COSM3690996	c.5796G>T	p.T1932T	Substitution - coding silent	Large_intestine
COSM5808005	c.663A>T	p.G221G	Substitution - coding silent	Liver
COSM4961351	c.6292G>A	p.A2098T	Substitution - Missense	Liver
COSM96417	c.567delC	p.N190fs*8	Deletion - Frameshift	Ovary
COSM166409	c.4448T>C	p.I1483T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1609323	c.1460C>A	p.A487D	Substitution - Missense	Liver
COSM3509571	c.258A>T	p.I86I	Substitution - coding silent	Skin
COSM1284301	c.4094C>A	p.S1365*	Substitution - Nonsense	Autonomic_ganglia
COSM1377818	c.5064G>A	p.T1688T	Substitution - coding silent	Large_intestine
COSM5599342	c.7047C>T	p.V2349V	Substitution - coding silent	Skin
COSM96449	c.?	p.I2101M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM970572	c.4251C>A	p.Y1417*	Substitution - Nonsense	Endometrium
COSM307690	c.3779+1delG	p.?	Unknown	Kidney
COSM88738	c.4337G>T	p.R1446L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM6001941	c.3299C>T	p.A1100V	Substitution - Missense	Prostate
COSM148010	c.2784G>A	p.P928P	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM4060712	c.2843A>G	p.Q948R	Substitution - Missense	Stomach
COSM280129	c.4840T>C	p.S1614P	Substitution - Missense	Large_intestine
COSM88745	c.4508A>T	p.Y1503F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM88746	c.5035_5037delTCC	p.S1680delS	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM96467	c.4873A>T	p.M1625L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM970556	c.5044C>T	p.R1682C	Substitution - Missense	Endometrium
COSM79348	c.4021C>T	p.R1341*	Substitution - Nonsense	Central_nervous_system
COSM4990880	c.6498C>T	p.P2166P	Substitution - coding silent	Skin
COSM3937064	c.1873C>T	p.R625C	Substitution - Missense	Oesophagus
COSM1678808	c.3449C>A	p.P1150H	Substitution - Missense	Large_intestine
COSM88772	c.5831delC	p.P1946fs*30	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5725859	c.3060+1G>A	p.?	Unknown	Skin
COSM1377812	c.6072G>A	p.A2024A	Substitution - coding silent	Large_intestine
COSM4767473	c.6479C>T	p.A2160V	Substitution - Missense	Biliary_tract
COSM3356830	c.4293T>C	p.I1431I	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM1735705	c.?	p.E1035*	Substitution - Nonsense	Skin
COSM4891091	c.7098G>A	p.R2366R	Substitution - coding silent	Upper_aerodigestive_tract
COSM5384869	c.6490C>T	p.L2164L	Substitution - coding silent	Skin
COSM4788085	c.4414T>A	p.W1472R	Substitution - Missense	Liver
COSM5576002	c.712G>A	p.V238M	Substitution - Missense	Stomach
COSM5991641	c.?	p.K1086*	Substitution - Nonsense	Breast
COSM96470	c.6624A>C	p.Q2208H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4060689	c.7285G>A	p.D2429N	Substitution - Missense	Stomach
COSM4060697	c.5451G>A	p.P1817P	Substitution - coding silent	Stomach
COSM4969328	c.4765delA	p.N1589fs*46	Deletion - Frameshift	Central_nervous_system
COSM5616858	c.6450G>A	p.P2150P	Substitution - coding silent	Lung
COSM1249111	c.6727G>A	p.A2243T	Substitution - Missense	Oesophagus
COSM107062	c.2126C>T	p.S709F	Substitution - Missense	Skin
COSM291735	c.5039_5041delCCT	p.S1680delS	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM4777506	c.220C>G	p.L74V	Substitution - Missense	Breast
COSM4060718	c.1187C>T	p.T396M	Substitution - Missense	Stomach
COSM703031	c.3893A>G	p.Y1298C	Substitution - Missense	Stomach
COSM703030	c.3419G>A	p.R1140Q	Substitution - Missense	Lung
COSM88738	c.4337G>T	p.R1446L	Substitution - Missense	Central_nervous_system
COSM88739	c.4349A>G	p.Y1450C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4990891	c.1489C>T	p.Q497*	Substitution - Nonsense	Skin
COSM3679906	c.2705C>T	p.T902I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303848	c.5367C>A	p.N1789K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4579031	c.5439C>T	p.N1813N	Substitution - coding silent	Bone
COSM4990884	c.4270C>T	p.P1424S	Substitution - Missense	Skin
COSM1315875	c.4445A>G	p.Y1482C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM970562	c.4545C>G	p.I1515M	Substitution - Missense	Endometrium
COSM970614	c.732G>A	p.T244T	Substitution - coding silent	Endometrium
COSM88749	c.4336C>T	p.R1446C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170759	c.3982+2T>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3509548	c.7086C>T	p.S2362S	Substitution - coding silent	Skin
COSM5040607	c.4499A>T	p.Q1500L	Substitution - Missense	Liver
COSM5949890	c.4944delC	p.I1649fs*95	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1578556	c.2491_2497delAACCCTC	p.N831fs*16	Deletion - Frameshift	Meninges
COSM970552	c.5344G>A	p.A1782T	Substitution - Missense	Endometrium
COSM1478867	c.4778C>A	p.T1593N	Substitution - Missense	Breast
COSM1745389	c.4300_4325del26	p.L1434fs*10	Deletion - Frameshift	Urinary_tract
COSM2920015	c.2640C>T	p.P880P	Substitution - coding silent	Skin
COSM4990893	c.598C>T	p.Q200*	Substitution - Nonsense	Skin
COSM5433071	c.5029G>A	p.E1677K	Substitution - Missense	Oesophagus
COSM970548	c.6281C>T	p.P2094L	Substitution - Missense	Endometrium
COSM88741	c.4444T>C	p.Y1482H	Substitution - Missense	Skin
COSM88748	c.4337G>A	p.R1446H	Substitution - Missense	Central_nervous_system
COSM5751280	c.4174C>CT	p.R1392fs*9	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM5880665	c.346A>G	p.S116G	Substitution - Missense	Soft_tissue
COSM3957564	c.5048G>C	p.R1683P	Substitution - Missense	Central_nervous_system
COSM4414487	c.95C>T	p.S32L	Substitution - Missense	Kidney
COSM166406	c.4231G>A	p.G1411R	Substitution - Missense	Oesophagus
COSM4943266	c.5732C>T	p.P1911L	Substitution - Missense	Breast
COSM3356829	c.4301T>A	p.L1434Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5009752	c.5444G>A	p.G1815D	Substitution - Missense	Large_intestine
COSM5945321	c.1216+5G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5015351	c.2863C>T	p.Q955*	Substitution - Nonsense	Kidney
COSM88769	c.3301_3302delCT	p.L1101fs*26	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM220498	c.4463C>G	p.P1488R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4060714	c.2438C>T	p.P813L	Substitution - Missense	Stomach
COSM6001941	c.3299C>T	p.A1100V	Substitution - Missense	Prostate
COSM96481	c.?_?del?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM280131	c.270C>T	p.S90S	Substitution - coding silent	Large_intestine
COSM5045069	c.4507T>A	p.Y1503N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM220496	c.4307G>A	p.S1436N	Substitution - Missense	Urinary_tract
COSM5021858	c.2129T>C	p.L710P	Substitution - Missense	Bone
COSM3509554	c.4432G>A	p.E1478K	Substitution - Missense	Skin
COSM2920065	c.617C>T	p.A206V	Substitution - Missense	Large_intestine
COSM1377854	c.2517G>T	p.Q839H	Substitution - Missense	Large_intestine
COSM5620544	c.4345G>A	p.V1449I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM254632	c.3689A>G	p.Y1230C	Substitution - Missense	Urinary_tract
COSM970606	c.1612A>C	p.T538P	Substitution - Missense	Endometrium
COSM1708695	c.3367C>T	p.P1123S	Substitution - Missense	Skin
COSM88753	c.4506G>T	p.W1502C	Substitution - Missense	Liver
COSM417011	c.4990C>T	p.R1664C	Substitution - Missense	Urinary_tract
COSM703032	c.4223G>A	p.C1408Y	Substitution - Missense	Lung
COSM3509561	c.2236C>T	p.P746S	Substitution - Missense	Skin
COSM4886682	c.6066G>A	p.Q2022Q	Substitution - coding silent	Upper_aerodigestive_tract
COSM5614349	c.3776A>G	p.Q1259R	Substitution - Missense	Lung
COSM4775059	c.5371T>C	p.S1791P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3509549	c.7067C>T	p.S2356F	Substitution - Missense	Skin
COSM88750	c.4301T>C	p.L1434P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4990889	c.1828C>T	p.Q610*	Substitution - Nonsense	Skin
COSM4170756	c.4448T>A	p.I1483N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5762854	c.2728A>G	p.T910A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5563434	c.6626A>C	p.Q2209P	Substitution - Missense	Prostate
COSM1249110	c.6452G>A	p.R2151Q	Substitution - Missense	Oesophagus
COSM4777507	c.6569G>A	p.R2190Q	Substitution - Missense	Breast
COSM1629891	c.576C>G	p.N192K	Substitution - Missense	Liver
COSM1726101	c.5399G>A	p.R1800Q	Substitution - Missense	Skin
COSM970612	c.775G>A	p.A259T	Substitution - Missense	Stomach
COSM1377845	c.3505C>T	p.R1169C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM471710	c.4668A>G	p.L1556L	Substitution - coding silent	Kidney
COSM1159410	c.1216G>C	p.V406L	Substitution - Missense	Pancreas
COSM5751535	c.5799_5800insC	p.S1934fs*32	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4260243	c.4471C>G	p.Q1491E	Substitution - Missense	Upper_aerodigestive_tract
COSM140751	c.2356C>A	p.Q786K	Substitution - Missense	Skin
COSM88738	c.4337G>T	p.R1446L	Substitution - Missense	Central_nervous_system
COSM5982028	c.?	p.M747V	Substitution - Missense	Breast
COSM88761	c.3967A>T	p.K1323*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM96507	c.3837-26_3837-5del22	p.?	Unknown	Ovary
COSM331816	c.6689A>G	p.Q2230R	Substitution - Missense	Lung
COSM88749	c.4336C>T	p.R1446C	Substitution - Missense	Lung
COSM5947555	c.4391T>A	p.L1464*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1159754	c.4492C>T	p.R1498*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4481984	c.2562C>T	p.H854H	Substitution - coding silent	Skin
COSM4934881	c.3695A>G	p.N1232S	Substitution - Missense	Liver
COSM5599342	c.7047C>T	p.V2349V	Substitution - coding silent	Skin
COSM1377845	c.3505C>T	p.R1169C	Substitution - Missense	Breast
COSM703034	c.4348T>G	p.Y1450D	Substitution - Missense	Lung
COSM266307	c.6215G>A	p.R2072Q	Substitution - Missense	Large_intestine
COSM4674640	c.6972G>T	p.Q2324H	Substitution - Missense	Large_intestine
COSM4674638	c.7150delC	p.H2384fs*12	Deletion - Frameshift	Large_intestine
COSM4170755	c.4450T>G	p.F1484V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM220498	c.4463C>G	p.P1488R	Substitution - Missense	Cervix
COSM4621018	c.6292G>T	p.A2098S	Substitution - Missense	Large_intestine
COSM4852899	c.3187G>T	p.E1063*	Substitution - Nonsense	Cervix
COSM1316076	c.4303G>A	p.D1435N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM88749	c.4336C>T	p.R1446C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM970570	c.4311T>G	p.I1437M	Substitution - Missense	Endometrium
COSM970580	c.3737G>A	p.G1246D	Substitution - Missense	Endometrium
COSM21764	c.5271C>T	p.G1757G	Substitution - coding silent	Skin
COSM1377864	c.356G>T	p.G119V	Substitution - Missense	Large_intestine
COSM2919946	c.4991G>A	p.R1664H	Substitution - Missense	Large_intestine
COSM220977	c.508C>T	p.Q170*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1180829	c.3250delA	p.I1084fs*15	Deletion - Frameshift	Stomach
COSM5886913	c.4174C>T	p.R1392*	Substitution - Nonsense	Skin
COSM96418	c.4477delA	p.I1493fs*57	Deletion - Frameshift	Ovary
COSM254634	c.3779+1G>T	p.?	Unknown	Urinary_tract
COSM4623334	c.1065G>A	p.Q355Q	Substitution - coding silent	Large_intestine
COSM4060694	c.6342C>T	p.G2114G	Substitution - coding silent	Stomach
COSM243844	c.759C>T	p.H253H	Substitution - coding silent	Prostate
COSM5384870	c.2961G>A	p.Q987Q	Substitution - coding silent	Prostate
COSM88746	c.5035_5037delTCC	p.S1680delS	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM252982	c.3370-5_3370-4delTT	p.?	Unknown	Oesophagus
COSM4990886	c.3395C>T	p.P1132L	Substitution - Missense	Skin
COSM3667851	c.6012A>T	p.R2004R	Substitution - coding silent	Liver
COSM4674644	c.6132C>A	p.A2044A	Substitution - coding silent	Large_intestine
COSM166410	c.1744_1745CC>TTT	p.P582fs*4	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM703037	c.5300C>T	p.S1767L	Substitution - Missense	Lung
COSM1162478	c.1491G>A	p.Q497Q	Substitution - coding silent	Pancreas
COSM3741918	c.7082C>T	p.S2361F	Substitution - Missense	Liver
COSM4940015	c.973A>T	p.M325L	Substitution - Missense	Liver
COSM255965	c.1447C>T	p.R483*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM3888514	c.4652A>G	p.E1551G	Substitution - Missense	Skin
COSM88740	c.4427C>G	p.P1476R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1377820	c.4837G>A	p.V1613M	Substitution - Missense	Stomach
COSM5945320	c.1501C>T	p.Q501*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM88749	c.4336C>T	p.R1446C	Substitution - Missense	Large_intestine
COSM1316916	c.4414T>G	p.W1472G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1377832	c.4213G>A	p.V1405M	Substitution - Missense	Large_intestine
COSM1741884	c.3251-4G>A	p.?	Unknown	Urinary_tract
COSM4549005	c.4627G>A	p.D1543N	Substitution - Missense	Skin
COSM88760	c.3517C>T	p.R1173*	Substitution - Nonsense	Urinary_tract
COSM3817963	c.4175G>A	p.R1392Q	Substitution - Missense	Breast
COSM79348	c.4021C>T	p.R1341*	Substitution - Nonsense	Ovary
COSM74259	c.4013T>C	p.L1338S	Substitution - Missense	Ovary
COSM88732	c.3158C>T	p.P1053L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM88749	c.4336C>T	p.R1446C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4060704	c.4804C>T	p.R1602C	Substitution - Missense	Stomach
COSM3969560	c.1369A>G	p.I457V	Substitution - Missense	Central_nervous_system
COSM88752	c.4496T>C	p.L1499P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4060698	c.5404G>A	p.V1802M	Substitution - Missense	Stomach
COSM1191083	c.3883_3884insT	p.L1296fs*4	Insertion - Frameshift	Lung
COSM4169928	c.3671A>G	p.D1224G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM88743	c.4507T>G	p.Y1503D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2920035	c.1802G>A	p.R601Q	Substitution - Missense	Large_intestine
COSM5656319	c.5034_5036delCTC	p.S1680delS	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM471711	c.977C>T	p.S326F	Substitution - Missense	Kidney
COSM703022	c.1148C>G	p.P383R	Substitution - Missense	Lung
COSM5699767	c.2004delA	p.K668fs*27	Deletion - Frameshift	Soft_tissue
COSM4170753	c.4501_4503delGAG	p.E1501delE	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM4990883	c.4271C>T	p.P1424L	Substitution - Missense	Skin
COSM6002107	c.722A>G	p.E241G	Substitution - Missense	Prostate
COSM254635	c.1258A>T	p.K420*	Substitution - Nonsense	Urinary_tract
COSM4770345	c.7329G>T	p.*2443Y	Nonstop extension	Adrenal_gland
COSM3509553	c.5333C>T	p.S1778L	Substitution - Missense	Skin
COSM3420984	c.212C>T	p.S71L	Substitution - Missense	Large_intestine
COSM4060696	c.6214C>T	p.R2072W	Substitution - Missense	Stomach
COSM1238064	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM300410	c.4893C>A	p.V1631V	Substitution - coding silent	Large_intestine
COSM4060717	c.1854C>T	p.P618P	Substitution - coding silent	Stomach
COSM1238064	c.?	p.?	Unknown	Liver
COSM79348	c.4021C>T	p.R1341*	Substitution - Nonsense	Large_intestine
COSM166411	c.3836+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4674646	c.4327C>T	p.R1443C	Substitution - Missense	Large_intestine
COSM4674641	c.6548C>T	p.A2183V	Substitution - Missense	Large_intestine
COSM3670194	c.5383T>C	p.C1795R	Substitution - Missense	Central_nervous_system
COSM5019155	c.5454G>A	p.V1818V	Substitution - coding silent	Soft_tissue
COSM5752622	c.2461C>T	p.Q821*	Substitution - Nonsense	Breast
COSM88749	c.4336C>T	p.R1446C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM557988	c.3206G>A	p.G1069D	Substitution - Missense	Skin
COSM96542	c.?_?del?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4542415	c.3183G>A	p.E1061E	Substitution - coding silent	Skin
COSM260288	c.321G>A	p.P107P	Substitution - coding silent	Large_intestine
COSM970548	c.6281C>T	p.P2094L	Substitution - Missense	Endometrium
COSM319672	c.4395-1G>A	p.?	Unknown	Lung
COSM4593308	c.6682C>G	p.H2228D	Substitution - Missense	Upper_aerodigestive_tract
COSM5576101	c.2181G>A	p.M727I	Substitution - Missense	Stomach
COSM3764560	c.4447A>T	p.I1483F	Substitution - Missense	Central_nervous_system
COSM88756	c.286C>T	p.Q96*	Substitution - Nonsense	Urinary_tract
COSM96413	c.2678C>T	p.S893L	Substitution - Missense	Soft_tissue
COSM392000	c.4887_4888delGG	p.E1630fs*29	Deletion - Frameshift	Lung
COSM4990881	c.4963C>T	p.L1655L	Substitution - coding silent	Skin
COSM5715141	c.3034G>T	p.E1012*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4425425	c.1644A>G	p.E548E	Substitution - coding silent	Oesophagus
COSM1563119	c.4134-1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM88748	c.4337G>A	p.R1446H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2920035	c.1802G>A	p.R601Q	Substitution - Missense	Large_intestine
COSM5658241	c.3610-1G>T	p.?	Unknown	Soft_tissue
COSM970586	c.3299C>A	p.A1100E	Substitution - Missense	Endometrium
COSM2919923	c.5552G>A	p.R1851H	Substitution - Missense	Large_intestine
COSM4384868	c.5234G>A	p.W1745*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM148008	c.3900C>A	p.I1300I	Substitution - coding silent	Stomach
COSM5651303	c.3091C>T	p.Q1031*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5942648	c.4198G>A	p.E1400K	Substitution - Missense	Skin
COSM4384863	c.6910C>T	p.Q2304*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3747999	c.2826T>C	p.P942P	Substitution - coding silent	Central_nervous_system
COSM88748	c.4337G>A	p.R1446H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM417011	c.4990C>T	p.R1664C	Substitution - Missense	Large_intestine
COSM1735705	c.?	p.E1035*	Substitution - Nonsense	Skin
COSM88760	c.3517C>T	p.R1173*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4569929	c.2172T>C	p.F724F	Substitution - coding silent	Skin
COSM3741919	c.1941+2T>C	p.?	Unknown	Liver
COSM4816636	c.386C>T	p.S129L	Substitution - Missense	Cervix
COSM1678809	c.2678C>A	p.S893*	Substitution - Nonsense	Ovary
COSM1756924	c.6513G>A	p.L2171L	Substitution - coding silent	Urinary_tract
COSM3764560	c.4447A>T	p.I1483F	Substitution - Missense	Central_nervous_system
COSM88738	c.4337G>T	p.R1446L	Substitution - Missense	Central_nervous_system
COSM4848624	c.3955C>T	p.R1319*	Substitution - Nonsense	Cervix
COSM5054882	c.5261G>A	p.S1754N	Substitution - Missense	Stomach
COSM96481	c.?_?del?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM88737	c.4305T>A	p.D1435E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4589684	c.4478_4479insA	p.P1494fs*25	Insertion - Frameshift	Skin
COSM220975	c.3712G>T	p.E1238*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4674658	c.335T>C	p.M112T	Substitution - Missense	Large_intestine
COSM96481	c.?_?del?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5021088	c.5052C>T	p.S1684S	Substitution - coding silent	Soft_tissue
COSM88746	c.5035_5037delTCC	p.S1680delS	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM254625	c.4336C>G	p.R1446G	Substitution - Missense	Urinary_tract
COSM96443	c.4499A>C	p.Q1500P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4605415	c.4577C>T	p.A1526V	Substitution - Missense	Upper_aerodigestive_tract
COSM3670194	c.5383T>C	p.C1795R	Substitution - Missense	Central_nervous_system
COSM1249112	c.2528T>A	p.L843Q	Substitution - Missense	Oesophagus
COSM1735705	c.?	p.E1035*	Substitution - Nonsense	Skin
COSM3509559	c.2963C>T	p.P988L	Substitution - Missense	Skin
COSM96481	c.?_?del?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM2920017	c.2615C>T	p.T872M	Substitution - Missense	Stomach
COSM3509564	c.1846C>T	p.P616S	Substitution - Missense	Skin
COSM88748	c.4337G>A	p.R1446H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3356828	c.4463C>T	p.P1488L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4544795	c.3645G>A	p.G1215G	Substitution - coding silent	Skin
COSM5049210	c.573T>A	p.S191R	Substitution - Missense	Oesophagus
COSM88748	c.4337G>A	p.R1446H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4384874	c.485C>T	p.A162V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM117417	c.2650G>A	p.A884T	Substitution - Missense	Ovary
COSM1159754	c.4492C>T	p.R1498*	Substitution - Nonsense	Stomach
COSM1737915	c.3689A>C	p.Y1230S	Substitution - Missense	Prostate
COSM970592	c.2708C>A	p.P903H	Substitution - Missense	Endometrium
COSM3957566	c.3527A>T	p.K1176M	Substitution - Missense	Lung
COSM386711	c.3044G>T	p.G1015V	Substitution - Missense	Lung
COSM5010118	c.5408A>G	p.Q1803R	Substitution - Missense	Large_intestine
COSM21764	c.5271C>T	p.G1757G	Substitution - coding silent	Skin
COSM1377857	c.1942-1G>T	p.?	Unknown	Large_intestine
COSM4466263	c.1424C>T	p.P475L	Substitution - Missense	Skin
COSM88749	c.4336C>T	p.R1446C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4260242	c.4548C>G	p.I1516M	Substitution - Missense	Upper_aerodigestive_tract
COSM5556130	c.2688G>A	p.G896G	Substitution - coding silent	Prostate
COSM317184	c.4471_4473delCAA	p.Q1491delQ	Deletion - In frame	Lung
COSM3764561	c.3599G>A	p.C1200Y	Substitution - Missense	Central_nervous_system
COSM970594	c.2573C>T	p.P858L	Substitution - Missense	Endometrium
COSM96455	c.5282C>G	p.S1761*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM291735	c.5039_5041delCCT	p.S1680delS	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM1202269	c.6596A>T	p.Q2199L	Substitution - Missense	Large_intestine
COSM1180829	c.3250delA	p.I1084fs*15	Deletion - Frameshift	Large_intestine
COSM1180829	c.3250delA	p.I1084fs*15	Deletion - Frameshift	Breast
COSM5444217	c.3217C>G	p.Q1073E	Substitution - Missense	Oesophagus
COSM3509555	c.3979A>T	p.K1327*	Substitution - Nonsense	Skin
COSM4170760	c.3061-2A>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM220463	c.3034G>A	p.E1012K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3509565	c.1423C>T	p.P475S	Substitution - Missense	Skin
COSM5599342	c.7047C>T	p.V2349V	Substitution - coding silent	Skin
COSM3957567	c.1823+4C>A	p.?	Unknown	Lung
COSM88751	c.4448T>G	p.I1483S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM96413	c.2678C>T	p.S893L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM435236	c.6303C>G	p.I2101M	Substitution - Missense	Breast
COSM5608141	c.4240G>A	p.V1414I	Substitution - Missense	Skin
COSM5658750	c.1942-2A>G	p.?	Unknown	Liver
COSM2919954	c.4690A>G	p.K1564E	Substitution - Missense	Stomach
COSM88755	c.223C>T	p.R75*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM96444	c.5660C>G	p.S1887*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM703023	c.1464C>A	p.L488L	Substitution - coding silent	Lung
COSM5945318	c.2283+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1743091	c.3205G>C	p.G1069R	Substitution - Missense	Biliary_tract
COSM4545799	c.3867G>A	p.K1289K	Substitution - coding silent	Skin
COSM4835292	c.4869C>A	p.A1623A	Substitution - coding silent	Cervix
COSM970604	c.1874G>A	p.R625H	Substitution - Missense	Endometrium
COSM88746	c.5035_5037delTCC	p.S1680delS	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM237245	c.1389G>A	p.G463G	Substitution - coding silent	Prostate
COSM4260243	c.4471C>G	p.Q1491E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM703025	c.1847C>G	p.P616R	Substitution - Missense	Lung
COSM166411	c.3836+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5652013	c.3915-1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4414487	c.95C>T	p.S32L	Substitution - Missense	Cervix
COSM88754	c.4865A>G	p.Y1622C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM95817	c.1557G>A	p.R519R	Substitution - coding silent	Lung
COSM3420981	c.3832G>A	p.E1278K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1734409	c.2925delC	p.S976fs*22	Deletion - Frameshift	Skin
COSM5656319	c.5034_5036delCTC	p.S1680delS	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM3509547	c.7281C>T	p.V2427V	Substitution - coding silent	Skin
COSM220497	c.4496T>A	p.L1499Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM417011	c.4990C>T	p.R1664C	Substitution - Missense	Central_nervous_system
COSM3690997	c.5356C>T	p.R1786C	Substitution - Missense	Large_intestine
COSM5648206	c.324C>A	p.N108K	Substitution - Missense	Oesophagus
COSM6001941	c.3299C>T	p.A1100V	Substitution - Missense	Prostate
COSM88746	c.5035_5037delTCC	p.S1680delS	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM1377844	c.3507C>T	p.R1169R	Substitution - coding silent	Large_intestine
COSM5656310	c.4478T>A	p.I1493K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM291735	c.5039_5041delCCT	p.S1680delS	Deletion - In frame	Skin
COSM4593308	c.6682C>G	p.H2228D	Substitution - Missense	Upper_aerodigestive_tract
COSM4437808	c.3874C>A	p.Q1292K	Substitution - Missense	Oesophagus
COSM5574530	c.5888A>G	p.E1963G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM88751	c.4448T>G	p.I1483S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM703040	c.7152C>A	p.H2384Q	Substitution - Missense	Lung
COSM88755	c.223C>T	p.R75*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM166411	c.3836+1G>A	p.?	Unknown	Liver
COSM1180829	c.3250delA	p.I1084fs*15	Deletion - Frameshift	Large_intestine
COSM4060695	c.6253C>T	p.Q2085*	Substitution - Nonsense	Stomach
COSM4384868	c.5234G>A	p.W1745*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4412648	c.1293C>T	p.L431L	Substitution - coding silent	Oesophagus
COSM4952925	c.1620G>T	p.Q540H	Substitution - Missense	Liver
COSM1202271	c.2224C>T	p.R742C	Substitution - Missense	Large_intestine
COSM88736	c.4022G>A	p.R1341Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4593308	c.6682C>G	p.H2228D	Substitution - Missense	Upper_aerodigestive_tract
COSM4593308	c.6682C>G	p.H2228D	Substitution - Missense	Upper_aerodigestive_tract
COSM5036155	c.1703C>G	p.S568C	Substitution - Missense	Oesophagus
COSM5656297	c.3373_3374delTA	p.Y1125fs*2	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3402318	c.4039C>T	p.R1347W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM21712	c.2809C>T	p.P937S	Substitution - Missense	Skin
COSM3509558	c.2978C>A	p.P993H	Substitution - Missense	Skin
COSM4775684	c.3833_3836+19del23	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3728000	c.4263_4264insC	p.P1424fs*13	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM254625	c.4336C>G	p.R1446G	Substitution - Missense	Urinary_tract
COSM417011	c.4990C>T	p.R1664C	Substitution - Missense	Large_intestine
COSM1726101	c.5399G>A	p.R1800Q	Substitution - Missense	Liver
COSM96464	c.4071delT	p.F1358fs*18	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3667852	c.2977C>T	p.P993S	Substitution - Missense	Liver
COSM96451	c.?	p.P688A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4060700	c.4992C>T	p.R1664R	Substitution - coding silent	Stomach
COSM96448	c.?	p.P858S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM352596	c.4648G>C	p.E1550Q	Substitution - Missense	Skin
COSM254628	c.1063C>T	p.Q355*	Substitution - Nonsense	Urinary_tract
COSM272537	c.2516A>G	p.Q839R	Substitution - Missense	Large_intestine
COSM5054883	c.4424C>G	p.P1475R	Substitution - Missense	Stomach
COSM5363737	c.556C>T	p.P186S	Substitution - Missense	Large_intestine
COSM4631608	c.5719G>A	p.A1907T	Substitution - Missense	Large_intestine
COSM5028062	c.5433G>A	p.K1811K	Substitution - coding silent	Breast
COSM4151332	c.3988C>G	p.Q1330E	Substitution - Missense	Kidney
COSM254630	c.3323C>A	p.S1108*	Substitution - Nonsense	Urinary_tract
COSM254627	c.310C>T	p.Q104*	Substitution - Nonsense	Urinary_tract
COSM3509556	c.3884T>C	p.V1295A	Substitution - Missense	Skin
COSM96481	c.?_?del?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4990885	c.3396C>T	p.P1132P	Substitution - coding silent	Skin
COSM4961351	c.6292G>A	p.A2098T	Substitution - Missense	Liver
COSM88765	c.3702T>G	p.Y1234*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM346449	c.3452G>T	p.W1151L	Substitution - Missense	Lung
COSM383874	c.5603G>T	p.R1868L	Substitution - Missense	Lung
COSM4788085	c.4414T>A	p.W1472R	Substitution - Missense	Liver
COSM970612	c.775G>A	p.A259T	Substitution - Missense	Endometrium
COSM4491149	c.3759C>T	p.D1253D	Substitution - coding silent	Skin
COSM4060709	c.4212C>T	p.G1404G	Substitution - coding silent	Stomach
COSM69054	c.2509_2515delGGGCCTC	p.G837fs*10	Deletion - Frameshift	Ovary
COSM4674651	c.2879C>T	p.P960L	Substitution - Missense	Large_intestine
COSM5561772	c.5450C>T	p.P1817L	Substitution - Missense	Prostate
COSM96455	c.5282C>G	p.S1761*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM970584	c.3321G>A	p.E1107E	Substitution - coding silent	Endometrium
COSM1478868	c.3271C>T	p.R1091C	Substitution - Missense	Stomach
COSM255051	c.1890_1893delAGCC	p.A631fs*23	Deletion - Frameshift	Urinary_tract
COSM1377810	c.7231delC	p.Q2411fs*2	Deletion - Frameshift	Large_intestine
COSM1202270	c.5891G>A	p.R1964H	Substitution - Missense	Large_intestine
COSM254630	c.3323C>A	p.S1108*	Substitution - Nonsense	Urinary_tract
COSM4926947	c.3778A>G	p.T1260A	Substitution - Missense	Liver
COSM970546	c.6310C>T	p.R2104C	Substitution - Missense	Endometrium
COSM5630720	c.2311C>A	p.Q771K	Substitution - Missense	Oesophagus
COSM4990888	c.2587G>A	p.A863T	Substitution - Missense	Skin
COSM88749	c.4336C>T	p.R1446C	Substitution - Missense	Lung
COSM88748	c.4337G>A	p.R1446H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM88739	c.4349A>G	p.Y1450C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1159744	c.5038_5039insT	p.S1680fs*55	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM417008	c.2659C>T	p.Q887*	Substitution - Nonsense	Urinary_tract
COSM970546	c.6310C>T	p.R2104C	Substitution - Missense	Large_intestine
COSM3509567	c.1201G>T	p.G401W	Substitution - Missense	Skin
COSM4060691	c.6661A>G	p.M2221V	Substitution - Missense	Stomach
COSM5724226	c.2867C>T	p.P956L	Substitution - Missense	Skin
COSM254630	c.3323C>A	p.S1108*	Substitution - Nonsense	Urinary_tract
COSM88753	c.4506G>T	p.W1502C	Substitution - Missense	Urinary_tract
COSM5416700	c.4599T>C	p.S1533S	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM293624	c.5219A>G	p.H1740R	Substitution - Missense	Large_intestine
COSM5751227	c.6141_6142insA	p.V2048fs*293	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM361828	c.4198G>T	p.E1400*	Substitution - Nonsense	Lung
COSM4060720	c.535G>A	p.A179T	Substitution - Missense	Stomach
COSM3726026	c.1521G>T	p.Q507H	Substitution - Missense	Lung
COSM703039	c.6989T>G	p.L2330R	Substitution - Missense	Lung
COSM88743	c.4507T>G	p.Y1503D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM109403	c.758A>T	p.H253L	Substitution - Missense	Skin
COSM88733	c.3237G>T	p.Q1079H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170758	c.4112T>A	p.V1371D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1644509	c.4358T>A	p.I1453N	Substitution - Missense	Salivary_gland
COSM1249109	c.4209C>T	p.D1403D	Substitution - coding silent	Large_intestine
COSM970608	c.1585A>G	p.M529V	Substitution - Missense	Endometrium
COSM96452	c.?	p.G1069S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM703038	c.6943A>T	p.S2315C	Substitution - Missense	Lung
COSM970554	c.5124C>T	p.N1708N	Substitution - coding silent	Endometrium
COSM4060713	c.2506C>A	p.L836M	Substitution - Missense	Stomach
COSM5885284	c.?	p.A138D	Substitution - Missense	Thyroid
COSM3667852	c.2977C>T	p.P993S	Substitution - Missense	Liver
COSM88748	c.4337G>A	p.R1446H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5663063	c.5892T>G	p.R1964R	Substitution - coding silent	Soft_tissue
COSM4789576	c.501C>T	p.A167A	Substitution - coding silent	Liver
COSM1377819	c.4874T>C	p.M1625T	Substitution - Missense	Oesophagus
COSM88743	c.4507T>G	p.Y1503D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1159754	c.4492C>T	p.R1498*	Substitution - Nonsense	Oesophagus
COSM5351901	c.5457C>A	p.C1819*	Substitution - Nonsense	Kidney
COSM4748954	c.3937A>C	p.K1313Q	Substitution - Missense	Stomach
COSM88748	c.4337G>A	p.R1446H	Substitution - Missense	Oesophagus
COSM3509563	c.2064G>A	p.P688P	Substitution - coding silent	Skin
COSM88748	c.4337G>A	p.R1446H	Substitution - Missense	Oesophagus
COSM88756	c.286C>T	p.Q96*	Substitution - Nonsense	Urinary_tract
COSM4129053	c.5670C>T	p.P1890P	Substitution - coding silent	Thyroid
COSM1377813	c.5770G>A	p.V1924M	Substitution - Missense	Large_intestine
COSM1756924	c.6513G>A	p.L2171L	Substitution - coding silent	Urinary_tract
COSM3817966	c.360G>A	p.K120K	Substitution - coding silent	Breast
COSM96415	c.5932A>G	p.N1978D	Substitution - Missense	Breast
COSM122356	c.760G>C	p.A254P	Substitution - Missense	Upper_aerodigestive_tract
COSM4495171	c.4480C>A	p.P1494T	Substitution - Missense	Skin
COSM4060715	c.2279C>A	p.P760Q	Substitution - Missense	Stomach
COSM5700965	c.4355A>T	p.E1452V	Substitution - Missense	Soft_tissue
COSM4775397	c.1167_1184del18	p.N390_M395delNVLNHM	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM5608138	c.175C>T	p.L59F	Substitution - Missense	Skin
COSM96462	c.5065C>T	p.L1689F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM260287	c.5470G>A	p.A1824T	Substitution - Missense	Large_intestine
COSM1580738	c.4309A>T	p.I1437F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2920044	c.1445A>G	p.Q482R	Substitution - Missense	Large_intestine
COSM2920000	c.3250_3250+1insA	p.I1084fs*3	Unknown	Large_intestine
COSM5567769	c.7066T>C	p.S2356P	Substitution - Missense	Prostate
COSM4674648	c.3969A>G	p.K1323K	Substitution - coding silent	Large_intestine
COSM88749	c.4336C>T	p.R1446C	Substitution - Missense	Breast
COSM166408	c.4471C>A	p.Q1491K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1202269	c.6596A>T	p.Q2199L	Substitution - Missense	Stomach
COSM1324452	c.1170C>G	p.N390K	Substitution - Missense	Ovary
COSM4060693	c.6431C>T	p.A2144V	Substitution - Missense	Stomach
COSM4851689	c.4413C>G	p.I1471M	Substitution - Missense	Skin
COSM260287	c.5470G>A	p.A1824T	Substitution - Missense	Large_intestine
COSM3948543	c.799-10T>A	p.?	Unknown	Ovary
COSM4917655	c.6657C>A	p.A2219A	Substitution - coding silent	Liver
COSM3817960	c.6803T>C	p.M2268T	Substitution - Missense	Breast
COSM5909495	c.1655C>T	p.P552L	Substitution - Missense	Skin
COSM88737	c.4305T>A	p.D1435E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM88758	c.694C>T	p.Q232*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM96413	c.2678C>T	p.S893L	Substitution - Missense	Lung
COSM4674643	c.6324C>T	p.Y2108Y	Substitution - coding silent	Large_intestine
COSM317185	c.4280+2T>C	p.?	Unknown	Lung
COSM88749	c.4336C>T	p.R1446C	Substitution - Missense	Skin
COSM88756	c.286C>T	p.Q96*	Substitution - Nonsense	Urinary_tract
COSM234574	c.714G>C	p.V238V	Substitution - coding silent	Skin
COSM1478869	c.2114A>G	p.N705S	Substitution - Missense	Breast
COSM4384867	c.5545A>T	p.K1849*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4567442	c.7154_7155CC>TA	p.P2385L	Substitution - Missense	Skin
COSM3420983	c.910G>A	p.V304I	Substitution - Missense	Large_intestine
COSM395599	c.2510G>T	p.G837V	Substitution - Missense	Lung
COSM4170754	c.4451T>C	p.F1484S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2152630	c.5266_5267delCA	p.Q1756fs*209	Deletion - Frameshift	Central_nervous_system
COSM84329	c.6841G>A	p.A2281T	Substitution - Missense	Pancreas
COSM243843	c.6984G>A	p.S2328S	Substitution - coding silent	Prostate
COSM1324451	c.858G>T	p.Q286H	Substitution - Missense	Ovary
COSM88753	c.4506G>T	p.W1502C	Substitution - Missense	Liver
COSM4855569	c.386C>A	p.S129*	Substitution - Nonsense	Cervix
COSM95589	c.4735C>T	p.Q1579*	Substitution - Nonsense	Ovary
COSM4801224	c.681T>A	p.P227P	Substitution - coding silent	Liver
COSM5606450	c.3862C>T	p.R1288W	Substitution - Missense	Skin
COSM305487	c.2191A>G	p.N731D	Substitution - Missense	Soft_tissue
COSM255051	c.1890_1893delAGCC	p.A631fs*23	Deletion - Frameshift	Urinary_tract
COSM4384871	c.3484A>G	p.N1162D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM6001941	c.3299C>T	p.A1100V	Substitution - Missense	Prostate
COSM88749	c.4336C>T	p.R1446C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1640478	c.3305A>G	p.Y1102C	Substitution - Missense	Stomach
COSM5762853	c.4459C>A	p.H1487N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3402319	c.3575T>C	p.V1192A	Substitution - Missense	Central_nervous_system
COSM4597500	c.6146C>A	p.A2049D	Substitution - Missense	Upper_aerodigestive_tract
COSM317186	c.1157_1158insCATTGTCG	p.T387fs*5	Insertion - Frameshift	Lung
COSM88741	c.4444T>C	p.Y1482H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5384870	c.2961G>A	p.Q987Q	Substitution - coding silent	Skin
COSM252981	c.3370-4delT	p.?	Unknown	Ovary
COSM5020442	c.4280+8T>C	p.?	Unknown	Soft_tissue
COSM2151925	c.1256G>A	p.W419*	Substitution - Nonsense	Central_nervous_system
COSM1609324	c.234C>T	p.S78S	Substitution - coding silent	Liver
COSM5724226	c.2867C>T	p.P956L	Substitution - Missense	Skin
COSM88746	c.5035_5037delTCC	p.S1680delS	Deletion - In frame	Lung
COSM4384868	c.5234G>A	p.W1745*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5751709	c.2272_2273insA	p.S758fs*74	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3420981	c.3832G>A	p.E1278K	Substitution - Missense	Large_intestine
COSM3937064	c.1873C>T	p.R625C	Substitution - Missense	Stomach
COSM254632	c.3689A>G	p.Y1230C	Substitution - Missense	Urinary_tract
COSM4060716	c.1893C>A	p.A631A	Substitution - coding silent	Stomach
COSM5651302	c.4451T>G	p.F1484C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170752	c.5040_5042delCTT	p.L1681delL	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM384618	c.424G>C	p.G142R	Substitution - Missense	Lung
COSM3402318	c.4039C>T	p.R1347W	Substitution - Missense	Central_nervous_system
COSM4593308	c.6682C>G	p.H2228D	Substitution - Missense	Upper_aerodigestive_tract
COSM5949992	c.1792C>T	p.Q598*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5985942	c.7257G>A	p.A2419A	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM96447	c.?	p.G2229S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5574530	c.5888A>G	p.E1963G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5563114	c.2962C>A	p.P988T	Substitution - Missense	Prostate
COSM254627	c.310C>T	p.Q104*	Substitution - Nonsense	Urinary_tract
COSM4990887	c.3004C>T	p.Q1002*	Substitution - Nonsense	Skin
COSM4888087	c.5440G>A	p.G1814R	Substitution - Missense	Upper_aerodigestive_tract
COSM254632	c.3689A>G	p.Y1230C	Substitution - Missense	Urinary_tract
COSM88763	c.4078C>T	p.R1360*	Substitution - Nonsense	Skin
COSM88749	c.4336C>T	p.R1446C	Substitution - Missense	Cervix
COSM88748	c.4337G>A	p.R1446H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM122355	c.2849C>T	p.T950M	Substitution - Missense	Upper_aerodigestive_tract
COSM166405	c.4232G>A	p.G1411E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM318347	c.4232G>T	p.G1411V	Substitution - Missense	Lung
COSM1161162	c.4508A>C	p.Y1503S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5004450	c.4322G>C	p.R1441P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM970588	c.3114A>G	p.I1038M	Substitution - Missense	Endometrium
COSM1180829	c.3250delA	p.I1084fs*15	Deletion - Frameshift	Large_intestine
COSM5434284	c.4303G>C	p.D1435H	Substitution - Missense	Oesophagus
COSM970544	c.6424C>A	p.L2142M	Substitution - Missense	Endometrium
COSM1301954	c.7302G>A	p.T2434T	Substitution - coding silent	Urinary_tract
COSM5787046	c.4277C>T	p.T1426M	Substitution - Missense	Breast
COSM5666476	c.4473A>T	p.Q1491H	Substitution - Missense	Soft_tissue
COSM1678809	c.2678C>A	p.S893*	Substitution - Nonsense	Ovary
COSM88767	c.1407delT	p.L470fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3734328	c.6484G>C	p.G2162R	Substitution - Missense	Pancreas
COSM96444	c.5660C>G	p.S1887*	Substitution - Nonsense	Oesophagus
COSM5948931	c.4943_4944insC	p.I1649fs*11	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4579029	c.6933G>A	p.P2311P	Substitution - coding silent	Bone
COSM3948542	c.7215G>T	p.Q2405H	Substitution - Missense	Ovary
COSM5878670	c.6087G>T	p.Q2029H	Substitution - Missense	Liver
COSM88747	c.4304A>G	p.D1435G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1128962	c.6795G>A	p.A2265A	Substitution - coding silent	Prostate
COSM254631	c.6983C>T	p.S2328L	Substitution - Missense	Skin
COSM703029	c.2827C>T	p.Q943*	Substitution - Nonsense	Breast
COSM111631	c.2978delC	p.P993fs*5	Deletion - Frameshift	Ovary
COSM3509552	c.6055G>T	p.G2019W	Substitution - Missense	Skin
COSM96458	c.7105C>A	p.P2369T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM369651	c.4132C>T	p.R1378W	Substitution - Missense	Lung
COSM330979	c.7285G>T	p.D2429Y	Substitution - Missense	Lung
COSM148008	c.3900C>A	p.I1300I	Substitution - coding silent	Oesophagus
COSM88743	c.4507T>G	p.Y1503D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM254631	c.6983C>T	p.S2328L	Substitution - Missense	Urinary_tract
COSM5787046	c.4277C>T	p.T1426M	Substitution - Missense	Breast
COSM218493	c.2950A>C	p.N984H	Substitution - Missense	Pancreas
COSM1161163	c.4243C>T	p.Q1415*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM2919930	c.5410C>T	p.H1804Y	Substitution - Missense	Large_intestine
COSM4982033	c.3198C>T	p.S1066S	Substitution - coding silent	Oesophagus
COSM3370431	c.2018T>A	p.L673*	Substitution - Nonsense	Thyroid
COSM218493	c.2950A>C	p.N984H	Substitution - Missense	Pancreas
COSM4792357	c.3719G>A	p.C1240Y	Substitution - Missense	Liver
COSM4788451	c.4157C>G	p.S1386C	Substitution - Missense	Liver
COSM5622779	c.1909G>C	p.E637Q	Substitution - Missense	Oesophagus
COSM220499	c.4444T>A	p.Y1482N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM79348	c.4021C>T	p.R1341*	Substitution - Nonsense	Central_nervous_system
COSM231338	c.7088C>T	p.P2363L	Substitution - Missense	Prostate
COSM88760	c.3517C>T	p.R1173*	Substitution - Nonsense	Urinary_tract
COSM95816	c.3546A>G	p.A1182A	Substitution - coding silent	Lung
COSM88741	c.4444T>C	p.Y1482H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4792357	c.3719G>A	p.C1240Y	Substitution - Missense	Liver
COSM4060702	c.4948G>A	p.V1650I	Substitution - Missense	Stomach
COSM4433182	c.5278C>T	p.Q1760*	Substitution - Nonsense	Oesophagus
COSM5487399	c.5436C>T	p.T1812T	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM4877446	c.5147C>T	p.T1716M	Substitution - Missense	Prostate
COSM5049061	c.3414C>G	p.I1138M	Substitution - Missense	Oesophagus
COSM70300	c.4358T>C	p.I1453T	Substitution - Missense	Ovary
COSM3402317	c.5986G>A	p.A1996T	Substitution - Missense	Central_nervous_system
COSM1645445	c.2455G>A	p.V819M	Substitution - Missense	Large_intestine
COSM21711	c.248A>C	p.N83T	Substitution - Missense	Lung
COSM79693	c.4401G>C	p.V1467V	Substitution - coding silent	Ovary
COSM460546	c.182C>T	p.P61L	Substitution - Missense	Cervix
COSM3420982	c.1990G>T	p.E664*	Substitution - Nonsense	Large_intestine
COSM280130	c.4166T>C	p.F1389S	Substitution - Missense	Large_intestine
COSM5656311	c.4788delC	p.N1596fs*39	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1159410	c.1216G>C	p.V406L	Substitution - Missense	Pancreas
COSM4603421	c.586_587insT	p.S196fs*4	Insertion - Frameshift	Upper_aerodigestive_tract
COSM77521	c.4135T>G	p.F1379V	Substitution - Missense	Ovary
COSM2920000	c.3250_3250+1insA	p.I1084fs*3	Unknown	Large_intestine
COSM148009	c.3837-8C>T	p.?	Unknown	Stomach
COSM4060692	c.6621A>G	p.Q2207Q	Substitution - coding silent	Stomach
COSM5679514	c.4237C>T	p.H1413Y	Substitution - Missense	Soft_tissue
COSM303846	c.5712G>C	p.Q1904H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1128960	c.4455T>C	p.H1485H	Substitution - coding silent	Prostate
COSM4060701	c.4981A>G	p.M1661V	Substitution - Missense	Stomach
COSM4579032	c.3611A>T	p.Y1204F	Substitution - Missense	Bone
COSM5136933	c.3307C>T	p.R1103*	Substitution - Nonsense	Skin
COSM4518557	c.6967_6968GG>AA	p.G2323K	Substitution - Missense	Skin
COSM703021	c.682A>G	p.T228A	Substitution - Missense	Lung
COSM88763	c.4078C>T	p.R1360*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1644510	c.1187C>G	p.T396R	Substitution - Missense	Salivary_gland
COSM88749	c.4336C>T	p.R1446C	Substitution - Missense	Lung
COSM96443	c.4499A>C	p.Q1500P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166408	c.4471C>A	p.Q1491K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3690998	c.1229C>T	p.A410V	Substitution - Missense	Large_intestine
COSM1678807	c.3478A>G	p.M1160V	Substitution - Missense	Ovary
COSM4748966	c.761C>T	p.A254V	Substitution - Missense	Stomach
COSM1202275	c.5720C>T	p.A1907V	Substitution - Missense	Large_intestine
COSM4060710	c.3836C>T	p.P1279L	Substitution - Missense	Stomach
COSM254626	c.3874C>T	p.Q1292*	Substitution - Nonsense	Urinary_tract
COSM5603283	c.6080C>T	p.P2027L	Substitution - Missense	Skin
COSM3817964	c.3860G>A	p.G1287D	Substitution - Missense	Breast
COSM96515	c.?	p.?	Unknown	Ovary
COSM4674657	c.536C>T	p.A179V	Substitution - Missense	Large_intestine
COSM96413	c.2678C>T	p.S893L	Substitution - Missense	Lung
COSM1745405	c.2685delC	p.Q897fs*30	Deletion - Frameshift	Urinary_tract
COSM2919923	c.5552G>A	p.R1851H	Substitution - Missense	Large_intestine
COSM4610998	c.4680_4682delAGA	p.E1562delE	Deletion - In frame	Large_intestine
COSM166410	c.1744_1745CC>TTT	p.P582fs*4	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM3988469	c.3512C>T	p.T1171I	Substitution - Missense	Kidney
COSM166407	c.4262G>A	p.C1421Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1708693	c.3394C>T	p.P1132S	Substitution - Missense	Skin
COSM1729096	c.331A>T	p.N111Y	Substitution - Missense	Liver
COSM1493694	c.2686G>A	p.G896R	Substitution - Missense	Kidney
COSM96446	c.?	p.L470*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM96481	c.?_?del?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM88768	c.1718delC	p.L574fs*15	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3770093	c.5293C>T	p.Q1765*	Substitution - Nonsense	Soft_tissue
COSM96463	c.3246delA	p.I1084fs*15	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1377845	c.3505C>T	p.R1169C	Substitution - Missense	Large_intestine
COSM4537527	c.2431G>A	p.G811R	Substitution - Missense	Skin
COSM5760507	c.4646T>A	p.L1549*	Substitution - Nonsense	Bone
COSM317183	c.3697A>T	p.R1233W	Substitution - Missense	Lung
COSM255965	c.1447C>T	p.R483*	Substitution - Nonsense	Central_nervous_system
COSM88760	c.3517C>T	p.R1173*	Substitution - Nonsense	Urinary_tract
COSM3817961	c.5063C>T	p.T1688M	Substitution - Missense	Stomach
COSM291735	c.5039_5041delCCT	p.S1680delS	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM5136933	c.3307C>T	p.R1103*	Substitution - Nonsense	Skin
COSM96471	c.6938C>T	p.P2313L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5936198	c.4295C>T	p.S1432F	Substitution - Missense	Skin
COSM4801224	c.681T>A	p.P227P	Substitution - coding silent	Liver
COSM4384872	c.1594C>A	p.P532T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3509566	c.1246A>G	p.I416V	Substitution - Missense	Skin
COSM4798976	c.4213G>C	p.V1405L	Substitution - Missense	Liver
COSM4952925	c.1620G>T	p.Q540H	Substitution - Missense	Liver
COSM5608145	c.690C>T	p.A230A	Substitution - coding silent	Skin
COSM252981	c.3370-4delT	p.?	Unknown	Skin
COSM2919990	c.3506G>A	p.R1169H	Substitution - Missense	Stomach
COSM1290518	c.6952C>G	p.Q2318E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM703032	c.4223G>A	p.C1408Y	Substitution - Missense	Soft_tissue
COSM5608143	c.4732A>T	p.S1578C	Substitution - Missense	Skin
COSM254634	c.3779+1G>T	p.?	Unknown	Urinary_tract
COSM88744	c.4507T>C	p.Y1503H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM96457	c.6418C>T	p.Q2140*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5751472	c.1527_1528insA	p.A510fs*18	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5990924	c.4649A>G	p.E1550G	Substitution - Missense	Prostate
COSM3888515	c.3840C>T	p.F1280F	Substitution - coding silent	Skin
COSM379083	c.1133G>A	p.R378Q	Substitution - Missense	Lung
COSM5094765	c.1040_1041delAT	p.D347fs*2	Deletion - Frameshift	Thymus
COSM4384865	c.6364C>T	p.Q2122*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1377846	c.3493T>C	p.W1165R	Substitution - Missense	Large_intestine
COSM5752819	c.3623_3624insC	p.Q1209fs*25	Insertion - Frameshift	Breast
COSM5751432	c.1108C>CT	p.R370fs*57	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM88774	c.3059A>T	p.E1020V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM970540	c.6871C>A	p.L2291M	Substitution - Missense	Endometrium
COSM5041339	c.2068G>C	p.A690P	Substitution - Missense	Liver
COSM4396124	c.798G>A	p.K266K	Substitution - coding silent	Skin
COSM970548	c.6281C>T	p.P2094L	Substitution - Missense	Endometrium
COSM1734409	c.2925delC	p.S976fs*22	Deletion - Frameshift	Pancreas
COSM1609321	c.2284-5C>G	p.?	Unknown	Liver
COSM88745	c.4508A>T	p.Y1503F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4798976	c.4213G>C	p.V1405L	Substitution - Missense	Liver
COSM5608146	c.2389A>T	p.N797Y	Substitution - Missense	Skin
COSM160204	c.4686G>A	p.E1562E	Substitution - coding silent	Breast
COSM970610	c.1103_1104insA	p.R369fs*58	Insertion - Frameshift	Endometrium
COSM88739	c.4349A>G	p.Y1450C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4851689	c.4413C>G	p.I1471M	Substitution - Missense	Cervix
COSM2919907	c.6213G>A	p.L2071L	Substitution - coding silent	Large_intestine
COSM4593308	c.6682C>G	p.H2228D	Substitution - Missense	Upper_aerodigestive_tract
COSM3737590	c.152T>G	p.L51*	Substitution - Nonsense	Soft_tissue
COSM5964258	c.5205G>A	p.T1735T	Substitution - coding silent	Breast
COSM4921193	c.3165G>A	p.V1055V	Substitution - coding silent	Liver
COSM1644511	c.4415G>C	p.W1472S	Substitution - Missense	Salivary_gland
COSM96464	c.4071delT	p.F1358fs*18	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM364389	c.1844C>T	p.T615I	Substitution - Missense	Lung
COSM2919889	c.7169C>A	p.T2390N	Substitution - Missense	Upper_aerodigestive_tract
COSM88770	c.3301_3302ins41	p.L1101fs*12	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM106942	c.7318G>A	p.E2440K	Substitution - Missense	Skin
COSM166408	c.4471C>A	p.Q1491K	Substitution - Missense	Soft_tissue
COSM5628770	c.3986T>C	p.L1329P	Substitution - Missense	Oesophagus
COSM4886380	c.5693G>T	p.S1898I	Substitution - Missense	Upper_aerodigestive_tract
COSM5561951	c.7149C>T	p.P2383P	Substitution - coding silent	Prostate
COSM4849366	c.3779+1G>A	p.?	Unknown	Cervix
COSM88766	c.1334_1335insCCAT	p.L446fs*7	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4990892	c.931C>T	p.P311S	Substitution - Missense	Skin
COSM5005801	c.3723C>T	p.F1241F	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM2151925	c.1256G>A	p.W419*	Substitution - Nonsense	Central_nervous_system
COSM4674650	c.3135A>G	p.P1045P	Substitution - coding silent	Large_intestine
COSM88748	c.4337G>A	p.R1446H	Substitution - Missense	Oesophagus
COSM379084	c.913A>G	p.N305D	Substitution - Missense	Lung
COSM4469317	c.1594C>T	p.P532S	Substitution - Missense	Skin
COSM703031	c.3893A>G	p.Y1298C	Substitution - Missense	Lung
COSM5510778	c.1149G>A	p.P383P	Substitution - coding silent	Biliary_tract
COSM2919940	c.5139C>T	p.H1713H	Substitution - coding silent	Large_intestine
COSM254629	c.3217C>T	p.Q1073*	Substitution - Nonsense	Urinary_tract
COSM970546	c.6310C>T	p.R2104C	Substitution - Missense	Prostate
COSM1202269	c.6596A>T	p.Q2199L	Substitution - Missense	Large_intestine
COSM5948954	c.4308T>A	p.S1436R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM970536	c.7089G>A	p.P2363P	Substitution - coding silent	Endometrium
COSM88744	c.4507T>C	p.Y1503H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM88760	c.3517C>T	p.R1173*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM172758	c.7030C>T	p.R2344W	Substitution - Missense	Stomach
COSM352596	c.4648G>C	p.E1550Q	Substitution - Missense	Lung
COSM88748	c.4337G>A	p.R1446H	Substitution - Missense	Oesophagus
COSM5658750	c.1942-2A>G	p.?	Unknown	Soft_tissue
COSM260288	c.321G>A	p.P107P	Substitution - coding silent	Large_intestine
COSM4504844	c.6764C>T	p.P2255L	Substitution - Missense	Skin
COSM2920019	c.2597T>C	p.M866T	Substitution - Missense	Large_intestine
COSM254628	c.1063C>T	p.Q355*	Substitution - Nonsense	Urinary_tract
COSM970538	c.6949C>A	p.Q2317K	Substitution - Missense	Endometrium
COSM4170756	c.4448T>A	p.I1483N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM94089	c.7130C>T	p.S2377L	Substitution - Missense	Lung
COSM126635	c.1507C>T	p.Q503*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM970566	c.4419delC	p.C1474fs*76	Deletion - Frameshift	Endometrium
COSM3888515	c.3840C>T	p.F1280F	Substitution - coding silent	Skin
COSM4989851	c.?	p.P1053L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3734328	c.6484G>C	p.G2162R	Substitution - Missense	Pancreas
COSM291735	c.5039_5041delCCT	p.S1680delS	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM4788451	c.4157C>G	p.S1386C	Substitution - Missense	Liver
COSM4929926	c.1784A>G	p.H595R	Substitution - Missense	Liver
COSM1609324	c.234C>T	p.S78S	Substitution - coding silent	Liver
COSM96459	c.2141G>A	p.R714H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM88749	c.4336C>T	p.R1446C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3356828	c.4463C>T	p.P1488L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM88756	c.286C>T	p.Q96*	Substitution - Nonsense	Stomach
COSM5942649	c.3329C>T	p.P1110L	Substitution - Missense	Skin
COSM5487609	c.1760_1761insG	p.V588fs*20	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue

> Text Mining based Variations

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PMID	Variation	Cancer	Evidence
27270325	Mutation	Breast Carcinoma	Mutations in CREBBP and SMAD4 have only been occasionally reported in breast cancer.
26920370	Mutation	Ovarian Carcinoma	Other recurrently mutated genes included ETS1, MLH1, PRKDC (3/10 each), and AMER1, ARID2, BCL11A, CREBBP, ERBB2, EXT1, FANCD2, MSH6, NF1, NOTCH1, NUMA1, PDE4DIP, PPP2R1A, RNF213, and SYNE1 (2/10 each).
26873401	Mutation	Esophageal Squamous Cell Carcinoma	Many tumors contained mutations in genes that regulate the cell cycle (TP53, CCND1, CDKN2A, FBXW7); epigenetic processes (MLL2, EP300, CREBBP, TET2); and the NOTCH (NOTCH1, NOTCH3), WNT(FAT1, YAP1, AJUBA) and receptor-tyrosine kinase-phosphoinositide 3-kinase signaling pathways (PIK3CA, EGFR, ERBB2).
26631611	Mutation	Lymphoma	T-cell responses were directed toward putative driver mutations in CREBBP and MEF2B.
26598538	Mutation	Urothelial Carcinoma	This allowed identifying eight mutations of interest in two patients: FGFR3, PDGFRB, and CREBBP missense single-nucleotide variants (SNVs) in an urothelial carcinoma; FGFR2, FBXW7, TP53, and MLH1 missense SNVs as well as an ATM frameshift mutation in a squamous cell carcinoma of the tongue.
26546837	Mutation	Small Cell Lung Carcinoma	We identified characteristic synchronous mutations in RB1 and TP53 and non-synchronous CREBBP and EP300 mutations.
26473533	Mutation	Diffuse Large B-Cell Lymphoma	Here, we discuss the function of histone acetyltransferases (CREBBP, EP300), histone methyltransferases (KDM2C/D, EZH2) and regulators of higher order chromatin structure (HIST1H1C/D/E, ARID1A and SMARCA4) that have been reported to be mutated in 5% of DLBCL, FL or BL.
26256760	Mutation	Follicular Lymphoma	Overall, 146 (97%) follicular lymphomas harboured non-silent mutations in epigenetic modifi ers, with predominantly dis ruptive mutations found in KMT2D, CREBBP, EP300, ARID1A, and BCL7A.
26189108	Mutation (loss of function)	Acute Lymphoblastic Leukemia	Oncogenic mutations of RAS pathway genes (NRAS, KRAS, FLT3, n=4) and deactivating mutations of major epigenetic regulators (CREBBP, EP300, each n=2 and ARID4B, EZH2, MACROD2, MLL2, each n=1) were prominent in these cases and virtually absent in non-recurrent cases (n=6) or other pediatric acute lymphoblastic leukemia cases (n=18).
25917266	Mutation	Hyperdiploid B Acute Lymphoblastic Leukemia	Our results confirm the exceptional susceptibility of HD ALL to RTK/Ras pathway and CREBBP mutations, but, more importantly, suggest that mutant KRAS and CREBBP might cooperate and equip cells with the necessary capacity to evolve into a relapse-generating clone.
25839328	Mutation	Esophageal Squamous Cell Carcinoma	In our combined cohort, we identified frequent inactivating mutations in AJUBA, ZNF750, and PTCH1 and the chromatin-remodeling genes CREBBP and BAP1, in addition to known mutations.
25790293	Mutation	B Acute Lymphoblastic Leukemia	Six pathways were frequently mutated, with NT5C2, CREBBP, WHSC1, TP53, USH2A, NRAS and IKZF1 mutations enriched at relapse.
25735316	Mutation	Prostate Carcinoma	While both components showed TMPRSS2:ERG fusions, the SCC component exclusively harbored complete TP53 inactivation (frameshift variant and copy loss) and two CREBBP mutations.
25713363	Mutation	Follicular Lymphoma	Among all somatically mutated genes, CREBBP mutations were most significantly enriched within the earliest inferable progenitor.
25548695	Mutation	Acute Myeloid Leukemia	AML with t (8;16) is a specific translocation leading to formation of a fusion protein (MYST3/CREBBP).
25151357	Mutation	Esophageal Squamous Cell Carcinoma	Histone modifier genes were frequently mutated, including KMT2D (also called MLL2; 19%), KMT2C (MLL3; 6%), KDM6A (7%), EP300 (10%) and CREBBP (6%).
25027518	Mutation	Follicular Lymphoma	The distribution of coding mutations in driver genes and the correlation with SHM suggest CREBBP and AID to be potential modifiers of genetic and epigenetic co-evolution in FL.
24942941	Mutation	Follicular Lymphoma	From genome-wide analysis by next-generation sequencing, EZH2, CREBBP and MLL2, which are histone-modifying genes, have been shown to be frequently mutated in FL and to have an important role in lymphomagenesis.
24870942	Mutation	Diffuse Large B-Cell Lymphoma	The germinal center B cell-like subgroup is linked to mutational changes in EZH2 and CREBBP.
24798186	Mutation	Acute Myeloid Leukemia	An acute myeloid leukemia was suspected of having a t(8;16)(p11;p13) resulting in a KAT6A-CREBBP fusion because the bone marrow was packed with monoblasts showing marked erythrophagocytosis.
24709692	Mutation	Small Cell Lung Carcinoma	Somatic mutations were found in TP53 and CREBBP.
24710217	Mutation	Acute Lymphoblastic Leukemia)	The most frequently mutated genes are H3F3A, PHF6, ATRX, KDM6A, SMARCA4, ASXL2, CREBBP, EZH2, MLL2, USP7, ASXL1, NSD2, SETD2, SMC1A and ZMYM3. Additional epigenetic regulators recurrently mutated in pediatric cancer include CREBBP, EED, EP300, EZH2, PHF6, and SETD2 in acute lymphoblastic leukemia4–6, CHD7, HDAC9, KDM4C, KDM6A, MLL2, SMARCA4 and ZMYM3 in medulloblastoma7, and ATRX in neuroblastoma and high-grade glioma2,8.
27144525	Mutation	Collecting Duct Carcinoma	We identified somatic SNVs in 14 other cancer census genes including: ATM, CREBBP, PRDM1, CBFB, FBXW7, IKZF1, KDR, KRAS, NACA, NF2, NUP98, SS18, TP53, and ZNF521.
27158780	Mutation	Lung Adenocarcinoma; Squamous Cell Lung Carcinoma	New significantly mutated genes included PPP3CA, DOT1L, and FTSJD1 in lung ADC, RASA1 in lung SqCC, and KLF5, EP300, and CREBBP in both tumor types.
27389057	Mutation	Follicular Lymphoma	The genes most frequently mutated in tFL included KMT2D (MLL2), CREBBP, EZH2, BCL2 and MEF2B.
28302137	Mutation	Diffuse Large B-Cell Lymphoma	Mutations of CREBBP and SOCS1 are independent prognostic factors in diffuse large B cell lymphoma: mutational analysis of the SAKK 38/07 prospective clinical trial cohort.
28288979	Mutation	Follicular Lymphoma; Diffused Large-B Cell Lymphoma	Through the analysis of CREBBP mutations from a large cohort of primary human FL and DLBCL, we show a significant difference in the spectrum of CREBBP mutations in these 2 diseases, with higher frequencies of nonsense/frameshift mutations in DLBCL compared with FL.
28253933	Mutation	Acute Lymphoblastic Leukemia	Presence of CREBBP/NT5C2 mutations suggests that a personalized therapeutic approach should be applied to these two patients.
28106467	Mutation	Follicular Lymphoma	Recurrent mutations of histone modifiers KMT2D, CREBBP, EP300, EZH2, ARIDIA, and linker histones are likely early events arising in the CPC pool, rendering epigenetic based therapies conceptually attractive for treatment of indolent and transformed FL.
28097792	Mutation	Acute Myeloid Leukemia	FISH identifies a KAT6A/CREBBP fusion caused by a cryptic insertional t(8;16) in a case of spontaneously remitting congenital acute myeloid leukemia with a normal karyotype.
28069569	Mutation (loss of function)	Follicular Lymphoma; Diffused Large-B Cell Lymphoma	These findings establish CREBBP as a haploinsufficient tumor-suppressor gene in GC B cells and provide insights into the mechanisms by which its loss contributes to lymphomagenesis.Significance: Loss-of-function mutations of CREBBP are common and early lesions in FL and DLBCL, suggesting a prominent role in lymphoma initiation.
28064239	Mutation	Follicular Lymphoma	CREBBP mutations were associated with inferior PFS.
28062671	Mutation	Follicular Lymphoma; Diffused Large-B Cell Lymphoma	The work presented by Jiang and colleagues addresses how somatic mutations in CREBBP disable acetylation and cause unopposed deacetylation by BCL6/SMRT/HDAC3 complexes on enhancers of B-cell signaling and immune response genes.
28007623	Mutation	Small Cell Lung Carcinoma	We also found mutations in other genes associated with transcriptional enhancer control, including CREB binding protein gene (CREBBP), E1A binding protein p300 gene (EP300), and chromodomain helicase DNA binding protein 7 gene (CHD7), and we report mutations in additional chromatin remodeling genes such as polybromo 1 gene (PBRM1).
27979926	Mutation (loss of function)	Childhood Acute Lymphoblastic Leukemia	Recent studies have shown that heterozygous inactivating mutations in the histone acetyl transferase, CREBBP, are particularly frequent in relapsed childhood acute lymphoblastic leukemia and associated with a hyperdiploid karyotype and KRAS mutations.
27742770	Mutation	Diffuse Large B-Cell Lymphoma	Cell lines expressing high BCL6 levels or CREBBP/EP300 mutations were sensitive to GSK-J4.
27537276	Mutation	Fibromyxoid Stroma Formation	Both OFMTs with CREBBP-BCORL1 fusions had areas of typical OFMT morphology, exhibiting uniform round to epithelioid cells arranged in cords or nesting pattern in a fibromyxoid stroma.
27407063	Mutation	Mantle Cell Lymphoma	Molecular cytogenetic methods together with whole-exome sequencing revealed numerous gene alterations restricted to the MCL clone (apart from the canonical t(11;14)(q13;q32) translocation) including gain of one copy of ATM gene or emergence of TP53, CREBBP, NUP214, FUBP1 and SF3B1 gene mutations.
27733359	Mutation (loss of function)	B-Cell Non-Hodgkin Lymphoma	Somatic mutations in CREBBP occur frequently in B-cell lymphoma. HDAC3 loss-of-function rescued repression of these enhancers and corresponding genes, including MHC class II, and more profoundly suppressed CREBBP-mutant lymphomas in vitro and in vivo Hence, CREBBP loss-of-function contributes to lymphomagenesis by enabling unopposed suppression of enhancers by BCL6/SMRT/HDAC3 complexes, suggesting HDAC3-targeted therapy as a precision approach for CREBBP-mutant lymphomas.Our findings establish the tumor suppressor function of CREBBP in GC lymphomas in which CREBBP mutations disable acetylation and result in unopposed deacetylation by BCL6/SMRT/HDAC3 complexes at enhancers of B-cell signaling and immune response genes.
28054944	Mutation	B Acute Lymphoblastic Leukemia	Examples of chromatin modifiers recurrently mutated/disrupted in BCP-ALL and associated with disease outcomes include MLL1, CREBBP, NSD2, and SETD2.

Summary
Symbol	CREBBP
Name	CREB binding protein
Aliases	KAT3A; RSTS; Rubinstein-Taybi syndrome; CREB-binding protein
Location	16p13.3
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Post-translational modification (PTM)

> Post-translational modification (PTM)

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Uniprot ID	Position	Amino Acid	Description	Upstream Enzyme	Affected By Mutation	Amino Acid Sequence Variant
Q92793	121	S	Phosphoserine	-	No	None detected
Q92793	220	R	Omega-N-methylarginine	-	No	None detected
Q92793	601	R	Omega-N-methylated arginine	-	Yes	p.R601W (cancer: COAD)
Q92793	625	R	Omega-N-methylated arginine	-	Yes	p.R625C (cancer: STAD); p.R625H (cancer: UCEC)
Q92793	657	K	N6-acetyllysine	-	No	None detected
Q92793	1014	K	N6-acetyllysine	-	No	None detected
Q92793	1030	S	Phosphoserine	-	No	None detected
Q92793	1076	S	Phosphoserine	-	No	None detected
Q92793	1216	K	N6-acetyllysine	-	No	None detected
Q92793	1382	S	Phosphoserine	IKKA	No	None detected
Q92793	1386	S	Phosphoserine	IKKA	No	None detected
Q92793	1583	K	N6-acetyllysine	-	No	None detected
Q92793	1591	K	N6-acetyllysine	-	No	None detected
Q92793	1592	K	N6-acetyllysine	-	No	None detected
Q92793	1595	K	N6-acetyllysine	-	No	None detected
Q92793	1597	K	N6-acetyllysine	-	No	None detected
Q92793	1741	K	N6-acetyllysine	-	No	None detected
Q92793	1744	K	N6-acetyllysine	-	No	None detected
Q92793	1763	S	Phosphoserine	-	No	None detected
Q92793	2063	S	Phosphoserine	-	No	None detected
Q92793	2076	S	Phosphoserine	-	No	None detected
Q92793	2079	S	Phosphoserine	-	No	None detected
Q92793	2351	S	Phosphoserine	-	No	None detected

Summary
Symbol	CREBBP
Name	CREB binding protein
Aliases	KAT3A; RSTS; Rubinstein-Taybi syndrome; CREB-binding protein
Location	16p13.3
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Expression analysis in primary tumor tissue from TCGA > Expression level in cancer cell line from CCLE > Expression level in human normal tissue from HPA > Text mining based expression change

> The Cancer Genome Atlas (TCGA)

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Differential expression analysis for cancers with more than 10 normal samples

Cancer	Full Name	# N	# T	Median (N)	Median (T)	LogFC	Adj. P	Status
BLCA	Bladder urothelial carcinoma	19	408	6.773	6.36	-0.452	0.0019	NS
BRCA	Breast invasive carcinoma	112	1100	7.263	7.152	-0.113	0.0394	NS
CESC	Cervical and endocervical cancers	3	306	7.12	6.732	NA	NA	NA
COAD	Colon adenocarcinoma	41	459	6.86	6.586	-0.265	0.00243	NS
ESCA	Esophageal carcinoma	11	185	7.598	7.582	-0.108	0.577	NS
GBM	Glioblastoma multiforme	5	166	6.895	6.504	NA	NA	NA
HNSC	Head and Neck squamous cell carcinoma	44	522	6.705	6.702	0.028	0.816	NS
KIRC	Kidney renal clear cell carcinoma	72	534	6.641	6.792	0.203	5.33e-05	NS
KIRP	Kidney renal papillary cell carcinoma	32	291	6.774	6.62	-0.099	0.314	NS
LAML	Acute Myeloid Leukemia	0	173	NA	8.121	NA	NA	NA
LGG	Brain Lower Grade Glioma	0	530	NA	7.238	NA	NA	NA
LIHC	Liver hepatocellular carcinoma	50	373	5.823	5.669	-0.196	0.0233	NS
LUAD	Lung adenocarcinoma	59	517	7.017	6.869	-0.073	0.38	NS
LUSC	Lung squamous cell carcinoma	51	501	7.015	6.852	-0.128	0.179	NS
OV	Ovarian serous cystadenocarcinoma	0	307	NA	7.4	NA	NA	NA
PAAD	Pancreatic adenocarcinoma	4	179	6.623	6.565	NA	NA	NA
PCPG	Pheochromocytoma and Paraganglioma	3	184	6.275	6.295	NA	NA	NA
PRAD	Prostate adenocarcinoma	52	498	6.942	6.814	-0.122	0.0908	NS
READ	Rectum adenocarcinoma	10	167	6.756	6.673	0.083	0.72	NS
SARC	Sarcoma	2	263	6.038	6.845	NA	NA	NA
SKCM	Skin Cutaneous Melanoma	1	472	6.329	6.825	NA	NA	NA
STAD	Stomach adenocarcinoma	35	415	7.604	7.498	-0.04	0.706	NS
TGCT	Testicular Germ Cell Tumors	0	156	NA	7.172	NA	NA	NA
THCA	Thyroid carcinoma	59	509	7.251	6.891	-0.298	4.1e-08	NS
THYM	Thymoma	2	120	7.534	6.856	NA	NA	NA
UCEC	Uterine Corpus Endometrial Carcinoma	35	546	7.372	6.653	-0.633	1.03e-08	Under

> Cancer Cell Line Encyclopedia (CCLE)

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Tissue	Cell Line	Expression Level (Microarray)
Autonomic ganglia	CHP126	7.3
Autonomic ganglia	CHP212	6.8
Autonomic ganglia	IMR32	7.2
Autonomic ganglia	KELLY	7.1
Autonomic ganglia	KPNRTBM1	7.2
Autonomic ganglia	KPNSI9S	6.7
Autonomic ganglia	KPNYN	7
Autonomic ganglia	MHHNB11	6.4
Autonomic ganglia	NB1	7
Autonomic ganglia	NH6	7.3
Autonomic ganglia	SHSY5Y	6.7
Autonomic ganglia	SIMA	7
Autonomic ganglia	SKNAS	6.9
Autonomic ganglia	SKNBE2	7
Autonomic ganglia	SKNDZ	7
Autonomic ganglia	SKNFI	6.5
Autonomic ganglia	SKNSH	6.5
Biliary tract	HUCCT1	6.1
Biliary tract	HUH28	6.9
Biliary tract	SNU1079	6.9
Biliary tract	SNU1196	6.9
Biliary tract	SNU245	6.6
Biliary tract	SNU308	6.3
Biliary tract	SNU478	6.2
Bone	143B	6.7
Bone	A673	7
Bone	CADOES1	7.1
Bone	CAL78	6.7
Bone	G292CLONEA141B1	6.9
Bone	HOS	6.9
Bone	HS706T	6.7
Bone	HS737T	6.7
Bone	HS819T	6.4
Bone	HS821T	6.6
Bone	HS822T	6.5
Bone	HS863T	6.2
Bone	HS870T	6.3
Bone	HS888T	6.5
Bone	MG63	6.9
Bone	MHHES1	7.4
Bone	OUMS27	7
Bone	RDES	7.3
Bone	SJSA1	7
Bone	SKES1	7.3
Bone	SKNMC	7.3
Bone	SW1353	6.9
Bone	T173	6.4
Bone	TC71	6.5
Bone	U2OS	6.9
Breast	AU565	7.1
Breast	BT20	6.5
Breast	BT474	6.9
Breast	BT483	7.2
Breast	BT549	6.5
Breast	CAL120	5.7
Breast	CAL148	8
Breast	CAL51	7
Breast	CAL851	6
Breast	CAMA1	7.4
Breast	DU4475	6.4
Breast	EFM192A	6.7
Breast	EFM19	7.5
Breast	EVSAT	6.2
Breast	HCC1143	7.2
Breast	HCC1187	6.8
Breast	HCC1395	6.8
Breast	HCC1419	6.7
Breast	HCC1428	7.1
Breast	HCC1500	6.6
Breast	HCC1569	7
Breast	HCC1599	6.7
Breast	HCC1806	6.3
Breast	HCC1937	6.6
Breast	HCC1954	6.3
Breast	HCC202	6.6
Breast	HCC2157	6.6
Breast	HCC2218	6.7
Breast	HCC38	6.8
Breast	HCC70	6.8
Breast	HDQP1	6.4
Breast	HMC18	6.9
Breast	HS274T	6.6
Breast	HS281T	6.2
Breast	HS343T	6.4
Breast	HS578T	6
Breast	HS606T	6.6
Breast	HS739T	6.4
Breast	HS742T	6.2
Breast	JIMT1	6.4
Breast	KPL1	6.9
Breast	MCF7	6.9
Breast	MDAMB134VI	6.4
Breast	MDAMB157	7
Breast	MDAMB175VII	6.6
Breast	MDAMB231	6.4
Breast	MDAMB361	7.1
Breast	MDAMB415	7.2
Breast	MDAMB436	6.7
Breast	MDAMB453	7.1
Breast	MDAMB468	6.2
Breast	SKBR3	6.9
Breast	T47D	6.7
Breast	UACC812	6.9
Breast	UACC893	6.5
Breast	YMB1	6.9
Breast	ZR751	6.6
Breast	ZR7530	6.7
Central nervous system	1321N1	6.8
Central nervous system	42MGBA	6.7
Central nervous system	8MGBA	6.5
Central nervous system	A172	6.8
Central nervous system	AM38	6.3
Central nervous system	BECKER	6.9
Central nervous system	CAS1	6.9
Central nervous system	CCFSTTG1	7
Central nervous system	D283MED	7.2
Central nervous system	D341MED	7.3
Central nervous system	DAOY	6.3
Central nervous system	DBTRG05MG	5.9
Central nervous system	DKMG	6
Central nervous system	GAMG	6.1
Central nervous system	GB1	6.8
Central nervous system	GI1	7.2
Central nervous system	GMS10	7
Central nervous system	GOS3	7.1
Central nervous system	H4	6.5
Central nervous system	HS683	6.6
Central nervous system	KALS1	6.8
Central nervous system	KG1C	6.4
Central nervous system	KNS42	6.9
Central nervous system	KNS60	6.4
Central nervous system	KNS81	6.7
Central nervous system	KS1	6.6
Central nervous system	LN18	6.4
Central nervous system	LN229	6.6
Central nervous system	M059K	6.7
Central nervous system	MOGGCCM	6.7
Central nervous system	MOGGUVW	6.4
Central nervous system	NMCG1	6.6
Central nervous system	ONS76	6.5
Central nervous system	SF126	6.5
Central nervous system	SF295	6.8
Central nervous system	SNB19	6.4
Central nervous system	SNU1105	6.4
Central nervous system	SNU201	6.7
Central nervous system	SNU466	6.7
Central nervous system	SNU489	6.6
Central nervous system	SNU626	7
Central nervous system	SNU738	6.8
Central nervous system	SW1088	6.9
Central nervous system	SW1783	6.7
Central nervous system	T98G	7.1
Central nervous system	TM31	6.6
Central nervous system	U118MG	6.8
Central nervous system	U138MG	6.4
Central nervous system	U251MG	6.3
Central nervous system	U87MG	6.1
Central nervous system	YH13	6.8
Central nervous system	YKG1	6.8
Endometrium	AN3CA	6.6
Endometrium	COLO684	6.9
Endometrium	EFE184	7
Endometrium	EN	7.3
Endometrium	ESS1	6.7
Endometrium	HEC108	7
Endometrium	HEC151	6.6
Endometrium	HEC1A	6.7
Endometrium	HEC1B	7
Endometrium	HEC251	6.2
Endometrium	HEC265	6.4
Endometrium	HEC50B	6.7
Endometrium	HEC59	6.6
Endometrium	HEC6	7
Endometrium	ISHIKAWAHERAKLIO02ER	6.8
Endometrium	JHUEM1	6.9
Endometrium	JHUEM2	7.2
Endometrium	JHUEM3	6.4
Endometrium	KLE	6.2
Endometrium	MFE280	6.2
Endometrium	MFE296	6.9
Endometrium	MFE319	6.3
Endometrium	RL952	6.7
Endometrium	SNGM	6.6
Endometrium	SNU1077	6.7
Endometrium	SNU685	6.5
Endometrium	TEN	7
Haematopoietic and lymphoid	697	7.2
Haematopoietic and lymphoid	A3KAW	6.4
Haematopoietic and lymphoid	A4FUK	6.8
Haematopoietic and lymphoid	ALLSIL	6.8
Haematopoietic and lymphoid	AML193	6.8
Haematopoietic and lymphoid	AMO1	6.7
Haematopoietic and lymphoid	BCP1	6.7
Haematopoietic and lymphoid	BDCM	6.3
Haematopoietic and lymphoid	BL41	7.3
Haematopoietic and lymphoid	BL70	7.2
Haematopoietic and lymphoid	BV173	6.9
Haematopoietic and lymphoid	CA46	7.6
Haematopoietic and lymphoid	CI1	6.4
Haematopoietic and lymphoid	CMK115	7.1
Haematopoietic and lymphoid	CMK86	6.9
Haematopoietic and lymphoid	CMK	6.6
Haematopoietic and lymphoid	CMLT1	7.4
Haematopoietic and lymphoid	COLO775	6.7
Haematopoietic and lymphoid	DAUDI	7.1
Haematopoietic and lymphoid	DB	6.9
Haematopoietic and lymphoid	DEL	6.8
Haematopoietic and lymphoid	DND41	7.4
Haematopoietic and lymphoid	DOHH2	7.3
Haematopoietic and lymphoid	EB1	6.9
Haematopoietic and lymphoid	EB2	6.6
Haematopoietic and lymphoid	EHEB	6.5
Haematopoietic and lymphoid	EJM	6.3
Haematopoietic and lymphoid	EM2	6.7
Haematopoietic and lymphoid	EOL1	7
Haematopoietic and lymphoid	F36P	7.7
Haematopoietic and lymphoid	GA10	7.2
Haematopoietic and lymphoid	GDM1	6.7
Haematopoietic and lymphoid	GRANTA519	6.8
Haematopoietic and lymphoid	HDLM2	7.4
Haematopoietic and lymphoid	HDMYZ	6.3
Haematopoietic and lymphoid	HEL9217	6.7
Haematopoietic and lymphoid	HEL	6.7
Haematopoietic and lymphoid	HH	7.4
Haematopoietic and lymphoid	HL60	6.8
Haematopoietic and lymphoid	HPBALL	6.7
Haematopoietic and lymphoid	HS604T	6.8
Haematopoietic and lymphoid	HS611T	6.4
Haematopoietic and lymphoid	HS616T	6.6
Haematopoietic and lymphoid	HS751T	6.6
Haematopoietic and lymphoid	HT	7.3
Haematopoietic and lymphoid	HTK	6.5
Haematopoietic and lymphoid	HUNS1	6.4
Haematopoietic and lymphoid	HUT102	6.6
Haematopoietic and lymphoid	HUT78	6.3
Haematopoietic and lymphoid	JEKO1	7.4
Haematopoietic and lymphoid	JK1	7.6
Haematopoietic and lymphoid	JM1	6.6
Haematopoietic and lymphoid	JURKAT	6.8
Haematopoietic and lymphoid	JURLMK1	7.4
Haematopoietic and lymphoid	JVM2	6.1
Haematopoietic and lymphoid	JVM3	6.9
Haematopoietic and lymphoid	K562	6.4
Haematopoietic and lymphoid	KARPAS299	7.8
Haematopoietic and lymphoid	KARPAS422	6.6
Haematopoietic and lymphoid	KARPAS620	7.6
Haematopoietic and lymphoid	KASUMI1	6.2
Haematopoietic and lymphoid	KASUMI2	7.6
Haematopoietic and lymphoid	KASUMI6	6.5
Haematopoietic and lymphoid	KCL22	7.1
Haematopoietic and lymphoid	KE37	6.8
Haematopoietic and lymphoid	KE97	6.2
Haematopoietic and lymphoid	KG1	6.6
Haematopoietic and lymphoid	KHM1B	6.6
Haematopoietic and lymphoid	KIJK	6.9
Haematopoietic and lymphoid	KMH2	6.6
Haematopoietic and lymphoid	KMM1	6.5
Haematopoietic and lymphoid	KMS11	7.6
Haematopoietic and lymphoid	KMS12BM	7.1
Haematopoietic and lymphoid	KMS18	6.6
Haematopoietic and lymphoid	KMS20	7.2
Haematopoietic and lymphoid	KMS21BM	6.6
Haematopoietic and lymphoid	KMS26	7.3
Haematopoietic and lymphoid	KMS27	6.1
Haematopoietic and lymphoid	KMS28BM	7.2
Haematopoietic and lymphoid	KMS34	6.7
Haematopoietic and lymphoid	KO52	7
Haematopoietic and lymphoid	KOPN8	7
Haematopoietic and lymphoid	KU812	6.7
Haematopoietic and lymphoid	KYO1	6.3
Haematopoietic and lymphoid	L1236	6.4
Haematopoietic and lymphoid	L363	7.3
Haematopoietic and lymphoid	L428	6.4
Haematopoietic and lymphoid	L540	6.7
Haematopoietic and lymphoid	LAMA84	7.4
Haematopoietic and lymphoid	LOUCY	6.6
Haematopoietic and lymphoid	LP1	7.3
Haematopoietic and lymphoid	M07E	6.8
Haematopoietic and lymphoid	MC116	6.8
Haematopoietic and lymphoid	ME1	7.1
Haematopoietic and lymphoid	MEC1	6.4
Haematopoietic and lymphoid	MEC2	6.4
Haematopoietic and lymphoid	MEG01	6.5
Haematopoietic and lymphoid	MHHCALL2	7.3
Haematopoietic and lymphoid	MHHCALL3	7.5
Haematopoietic and lymphoid	MHHCALL4	7.5
Haematopoietic and lymphoid	MINO	6.8
Haematopoietic and lymphoid	MJ	6.6
Haematopoietic and lymphoid	MM1S	6.8
Haematopoietic and lymphoid	MOLM13	6.6
Haematopoietic and lymphoid	MOLM16	6.4
Haematopoietic and lymphoid	MOLM6	6.7
Haematopoietic and lymphoid	MOLP2	6.2
Haematopoietic and lymphoid	MOLP8	7.4
Haematopoietic and lymphoid	MOLT13	7.2
Haematopoietic and lymphoid	MOLT16	6.5
Haematopoietic and lymphoid	MOLT4	6.5
Haematopoietic and lymphoid	MONOMAC1	6.9
Haematopoietic and lymphoid	MONOMAC6	7.2
Haematopoietic and lymphoid	MOTN1	6.9
Haematopoietic and lymphoid	MUTZ5	7.6
Haematopoietic and lymphoid	MV411	6.7
Haematopoietic and lymphoid	NALM19	7.3
Haematopoietic and lymphoid	NALM1	7.5
Haematopoietic and lymphoid	NALM6	7.5
Haematopoietic and lymphoid	NAMALWA	7.2
Haematopoietic and lymphoid	NB4	6.7
Haematopoietic and lymphoid	NCIH929	6.3
Haematopoietic and lymphoid	NCO2	5
Haematopoietic and lymphoid	NOMO1	6.6
Haematopoietic and lymphoid	NUDHL1	7.2
Haematopoietic and lymphoid	NUDUL1	7
Haematopoietic and lymphoid	OCIAML2	6.9
Haematopoietic and lymphoid	OCIAML3	7.7
Haematopoietic and lymphoid	OCIAML5	7.1
Haematopoietic and lymphoid	OCILY10	5.8
Haematopoietic and lymphoid	OCILY19	7.9
Haematopoietic and lymphoid	OCILY3	6.4
Haematopoietic and lymphoid	OCIM1	6.8
Haematopoietic and lymphoid	OPM2	7
Haematopoietic and lymphoid	P12ICHIKAWA	6.4
Haematopoietic and lymphoid	P31FUJ	6.3
Haematopoietic and lymphoid	P3HR1	6.9
Haematopoietic and lymphoid	PCM6	6.8
Haematopoietic and lymphoid	PEER	6.8
Haematopoietic and lymphoid	PF382	6.4
Haematopoietic and lymphoid	PFEIFFER	7
Haematopoietic and lymphoid	PL21	7.1
Haematopoietic and lymphoid	RAJI	6.4
Haematopoietic and lymphoid	RCHACV	8.2
Haematopoietic and lymphoid	REC1	7
Haematopoietic and lymphoid	REH	7.4
Haematopoietic and lymphoid	RI1	6.9
Haematopoietic and lymphoid	RL	6.7
Haematopoietic and lymphoid	RPMI8226	6.7
Haematopoietic and lymphoid	RPMI8402	6.7
Haematopoietic and lymphoid	RS411	7.1
Haematopoietic and lymphoid	SEM	6.9
Haematopoietic and lymphoid	SET2	6.9
Haematopoietic and lymphoid	SIGM5	6.7
Haematopoietic and lymphoid	SKM1	6.9
Haematopoietic and lymphoid	SKMM2	7
Haematopoietic and lymphoid	SR786	6.9
Haematopoietic and lymphoid	ST486	7.1
Haematopoietic and lymphoid	SUDHL10	6.8
Haematopoietic and lymphoid	SUDHL1	6.5
Haematopoietic and lymphoid	SUDHL4	7.2
Haematopoietic and lymphoid	SUDHL5	6.5
Haematopoietic and lymphoid	SUDHL6	6.8
Haematopoietic and lymphoid	SUDHL8	7
Haematopoietic and lymphoid	SUPB15	7.3
Haematopoietic and lymphoid	SUPHD1	6.8
Haematopoietic and lymphoid	SUPM2	6.5
Haematopoietic and lymphoid	SUPT11	6.5
Haematopoietic and lymphoid	SUPT1	6.8
Haematopoietic and lymphoid	TALL1	7.4
Haematopoietic and lymphoid	TF1	6.7
Haematopoietic and lymphoid	THP1	6.7
Haematopoietic and lymphoid	TO175T	6.8
Haematopoietic and lymphoid	TOLEDO	7.3
Haematopoietic and lymphoid	U266B1	6.6
Haematopoietic and lymphoid	U937	6.4
Haematopoietic and lymphoid	UT7	7.4
Haematopoietic and lymphoid	WSUDLCL2	6.6
Kidney	769P	6.5
Kidney	786O	6.5
Kidney	A498	6.9
Kidney	A704	6.4
Kidney	ACHN	7
Kidney	BFTC909	6.3
Kidney	CAKI1	6.5
Kidney	CAKI2	6.2
Kidney	CAL54	6.7
Kidney	KMRC1	6.3
Kidney	KMRC20	6.6
Kidney	KMRC2	6.2
Kidney	KMRC3	6.6
Kidney	OSRC2	6.4
Kidney	RCC10RGB	6.5
Kidney	SNU1272	6.6
Kidney	SNU349	6.5
Kidney	TUHR10TKB	7
Kidney	TUHR14TKB	6.6
Kidney	TUHR4TKB	6.6
Kidney	VMRCRCW	6.8
Kidney	VMRCRCZ	6.8
Large intestine	C2BBE1	6.9
Large intestine	CCK81	7
Large intestine	CL11	6.6
Large intestine	CL14	6.2
Large intestine	CL34	5.9
Large intestine	CL40	6.6
Large intestine	COLO205	6.6
Large intestine	COLO320	6.9
Large intestine	COLO678	7
Large intestine	CW2	6.8
Large intestine	DLD1	6.5
Large intestine	GP2D	6.6
Large intestine	HCC56	7.1
Large intestine	HCT116	6.7
Large intestine	HCT15	6.3
Large intestine	HS675T	6.3
Large intestine	HS698T	6.7
Large intestine	HT115	6.4
Large intestine	HT29	6.7
Large intestine	HT55	7.1
Large intestine	KM12	6.5
Large intestine	LOVO	7.2
Large intestine	LS1034	7.1
Large intestine	LS123	6.4
Large intestine	LS180	6.7
Large intestine	LS411N	6.5
Large intestine	LS513	6.6
Large intestine	MDST8	6.5
Large intestine	NCIH508	6.4
Large intestine	NCIH716	6.9
Large intestine	NCIH747	6.7
Large intestine	OUMS23	7
Large intestine	RCM1	6.6
Large intestine	RKO	5.9
Large intestine	SKCO1	6.8
Large intestine	SNU1040	6.8
Large intestine	SNU1197	6.5
Large intestine	SNU175	6.7
Large intestine	SNU283	6.7
Large intestine	SNU407	6.6
Large intestine	SNU503	6.6
Large intestine	SNU61	7
Large intestine	SNU81	7.3
Large intestine	SNUC1	6.7
Large intestine	SNUC2A	6.9
Large intestine	SNUC4	6.7
Large intestine	SNUC5	6.3
Large intestine	SW1116	6.8
Large intestine	SW1417	7.1
Large intestine	SW1463	6.5
Large intestine	SW403	6.8
Large intestine	SW480	6.1
Large intestine	SW48	6.8
Large intestine	SW620	6.7
Large intestine	SW837	6.9
Large intestine	SW948	6.5
Large intestine	T84	6.9
Liver	ALEXANDERCELLS	5.8
Liver	C3A	6.5
Liver	HEP3B217	6.6
Liver	HEPG2	6.7
Liver	HLE	6.4
Liver	HLF	6.5
Liver	HUH1	6.5
Liver	HUH6	6.8
Liver	HUH7	6.3
Liver	JHH1	6.8
Liver	JHH2	6.6
Liver	JHH4	6.4
Liver	JHH5	6.5
Liver	JHH6	6.5
Liver	JHH7	6.8
Liver	LI7	6.6
Liver	PLCPRF5	5.9
Liver	SKHEP1	6.4
Liver	SNU182	6.7
Liver	SNU387	6.9
Liver	SNU398	6.8
Liver	SNU423	6.6
Liver	SNU449	6.4
Liver	SNU475	6.6
Liver	SNU761	6.1
Liver	SNU878	6.5
Liver	SNU886	6.5
Lung	A549	6.2
Lung	ABC1	6.7
Lung	BEN	6.7
Lung	CAL12T	6.6
Lung	CALU1	6.8
Lung	CALU3	6.5
Lung	CALU6	6.6
Lung	CHAGOK1	6.7
Lung	COLO668	6.6
Lung	COLO699	6.9
Lung	CORL105	6.9
Lung	CORL23	6.5
Lung	CORL24	6.6
Lung	CORL279	6.3
Lung	CORL311	6.5
Lung	CORL47	6.9
Lung	CORL51	6.7
Lung	CORL88	7.2
Lung	CORL95	6.8
Lung	CPCN	6.7
Lung	DMS114	6.6
Lung	DMS153	6.8
Lung	DMS273	6.7
Lung	DMS454	6.2
Lung	DMS53	6.1
Lung	DMS79	6.6
Lung	DV90	6
Lung	EBC1	6.6
Lung	EPLC272H	6.2
Lung	HARA	6.8
Lung	HCC1171	6.6
Lung	HCC1195	6.5
Lung	HCC15	6.7
Lung	HCC2279	7.7
Lung	HCC2935	6.8
Lung	HCC33	6.8
Lung	HCC366	6.4
Lung	HCC4006	6.6
Lung	HCC44	6.5
Lung	HCC78	6.6
Lung	HCC827	6.2
Lung	HCC95	6.7
Lung	HLC1	6.9
Lung	HLFA	6.6
Lung	HS229T	6.3
Lung	HS618T	6.6
Lung	IALM	7.1
Lung	KNS62	6.8
Lung	LC1F	6.8
Lung	LC1SQSF	6.6
Lung	LCLC103H	6.4
Lung	LCLC97TM1	6.8
Lung	LK2	7.4
Lung	LOUNH91	6.3
Lung	LU65	6.5
Lung	LU99	6.3
Lung	LUDLU1	6.6
Lung	LXF289	6.9
Lung	MORCPR	6.7
Lung	NCIH1048	6.5
Lung	NCIH1092	7
Lung	NCIH1105	5.9
Lung	NCIH1155	7
Lung	NCIH1184	7.1
Lung	NCIH1299	6.4
Lung	NCIH1339	6.5
Lung	NCIH1341	6.8
Lung	NCIH1355	6.3
Lung	NCIH1373	6.8
Lung	NCIH1385	6.1
Lung	NCIH1395	6.5
Lung	NCIH1435	5.7
Lung	NCIH1436	6.9
Lung	NCIH1437	6.4
Lung	NCIH146	7.8
Lung	NCIH1563	7.2
Lung	NCIH1568	6.6
Lung	NCIH1573	7
Lung	NCIH1581	6.6
Lung	NCIH1618	7.2
Lung	NCIH1623	6.5
Lung	NCIH1648	6.3
Lung	NCIH1650	6.7
Lung	NCIH1651	6.9
Lung	NCIH1666	6.5
Lung	NCIH1693	5.6
Lung	NCIH1694	6.7
Lung	NCIH1703	6.9
Lung	NCIH1734	6.7
Lung	NCIH1755	6.9
Lung	NCIH1781	7
Lung	NCIH1792	6.3
Lung	NCIH1793	6.1
Lung	NCIH1836	6.7
Lung	NCIH1838	6.4
Lung	NCIH1869	6.4
Lung	NCIH1876	5.9
Lung	NCIH1915	5.9
Lung	NCIH1930	7.3
Lung	NCIH1944	6.2
Lung	NCIH1963	4.5
Lung	NCIH196	7.2
Lung	NCIH1975	6.6
Lung	NCIH2009	6.4
Lung	NCIH2023	6.4
Lung	NCIH2029	6.7
Lung	NCIH2030	6.2
Lung	NCIH2066	6.1
Lung	NCIH2081	6.6
Lung	NCIH2085	6.4
Lung	NCIH2087	6.3
Lung	NCIH209	4.7
Lung	NCIH2106	7.1
Lung	NCIH2110	6.4
Lung	NCIH211	6.9
Lung	NCIH2122	6.4
Lung	NCIH2126	6.3
Lung	NCIH2141	7.1
Lung	NCIH2170	6.5
Lung	NCIH2171	6.9
Lung	NCIH2172	6.6
Lung	NCIH2196	6.9
Lung	NCIH2227	7.5
Lung	NCIH2228	7.1
Lung	NCIH226	6.8
Lung	NCIH2286	6.9
Lung	NCIH2291	6.7
Lung	NCIH2342	6.3
Lung	NCIH2347	6.3
Lung	NCIH23	6.4
Lung	NCIH2405	7.2
Lung	NCIH2444	5.9
Lung	NCIH292	6.4
Lung	NCIH322	6.5
Lung	NCIH3255	6.4
Lung	NCIH358	6.6
Lung	NCIH441	6.3
Lung	NCIH446	6.3
Lung	NCIH460	6.4
Lung	NCIH510	6.4
Lung	NCIH520	7.1
Lung	NCIH522	6.9
Lung	NCIH524	7.3
Lung	NCIH526	6.4
Lung	NCIH596	6.9
Lung	NCIH647	6
Lung	NCIH650	6.4
Lung	NCIH661	6.6
Lung	NCIH69	7.2
Lung	NCIH727	6.7
Lung	NCIH810	6.6
Lung	NCIH82	7.1
Lung	NCIH838	6.1
Lung	NCIH841	6.4
Lung	NCIH854	6.5
Lung	NCIH889	6.7
Lung	PC14	7.1
Lung	RERFLCAD1	6.7
Lung	RERFLCAD2	6.1
Lung	RERFLCAI	6.6
Lung	RERFLCKJ	6.5
Lung	RERFLCMS	6.5
Lung	RERFLCSQ1	6.5
Lung	SBC5	6.6
Lung	SCLC21H	6.5
Lung	SHP77	6.2
Lung	SKLU1	6.3
Lung	SKMES1	6.1
Lung	SQ1	6.6
Lung	SW1271	6.8
Lung	SW1573	6.8
Lung	SW900	6.5
Lung	VMRCLCD	6.8
Lung	VMRCLCP	7
Oesophagus	COLO680N	6.1
Oesophagus	ECGI10	6.8
Oesophagus	KYSE140	6.9
Oesophagus	KYSE150	6.7
Oesophagus	KYSE180	7.1
Oesophagus	KYSE270	6.6
Oesophagus	KYSE30	7.2
Oesophagus	KYSE410	6.8
Oesophagus	KYSE450	7.2
Oesophagus	KYSE510	6.6
Oesophagus	KYSE520	6.6
Oesophagus	KYSE70	7.1
Oesophagus	OE19	6.6
Oesophagus	OE33	6.2
Oesophagus	TE10	7.4
Oesophagus	TE11	6.7
Oesophagus	TE14	7.1
Oesophagus	TE15	6.6
Oesophagus	TE1	6.8
Oesophagus	TE4	6.5
Oesophagus	TE5	7.1
Oesophagus	TE6	6.5
Oesophagus	TE8	7
Oesophagus	TE9	6.9
Oesophagus	TT	6.8
Ovary	59M	6.6
Ovary	A2780	6.8
Ovary	CAOV3	6
Ovary	CAOV4	6.5
Ovary	COLO704	7.3
Ovary	COV318	7
Ovary	COV362	6.8
Ovary	COV434	6.5
Ovary	COV504	7.1
Ovary	COV644	6.6
Ovary	EFO21	7.1
Ovary	EFO27	6.5
Ovary	ES2	6.2
Ovary	FUOV1	6
Ovary	HEYA8	6
Ovary	HS571T	6.5
Ovary	IGROV1	6.8
Ovary	JHOC5	7
Ovary	JHOM1	6.5
Ovary	JHOM2B	6.4
Ovary	JHOS2	6.4
Ovary	JHOS4	6.5
Ovary	KURAMOCHI	7.4
Ovary	MCAS	6
Ovary	NIHOVCAR3	6.6
Ovary	OAW28	7.3
Ovary	OAW42	6.9
Ovary	OC314	7
Ovary	OC316	6.9
Ovary	ONCODG1	6.3
Ovary	OV56	6.3
Ovary	OV7	6.8
Ovary	OV90	7.1
Ovary	OVCAR4	6.4
Ovary	OVCAR8	6.1
Ovary	OVISE	6.8
Ovary	OVK18	6.9
Ovary	OVKATE	6.9
Ovary	OVMANA	6.2
Ovary	OVSAHO	6
Ovary	OVTOKO	6.2
Ovary	RMGI	6.6
Ovary	RMUGS	6.8
Ovary	SKOV3	7.1
Ovary	SNU119	6.5
Ovary	SNU840	6.6
Ovary	SNU8	6.2
Ovary	TOV112D	6.9
Ovary	TOV21G	6.4
Ovary	TYKNU	6.1
Pancreas	ASPC1	7.2
Pancreas	BXPC3	6.9
Pancreas	CAPAN1	6.5
Pancreas	CAPAN2	6.7
Pancreas	CFPAC1	6.4
Pancreas	DANG	6.4
Pancreas	HPAC	7
Pancreas	HPAFII	6.8
Pancreas	HS766T	6.6
Pancreas	HUPT3	6.7
Pancreas	HUPT4	6.2
Pancreas	KCIMOH1	6.4
Pancreas	KLM1	6.9
Pancreas	KP2	5.9
Pancreas	KP3	6.6
Pancreas	KP4	6.7
Pancreas	L33	6.4
Pancreas	MIAPACA2	6.6
Pancreas	PANC0203	6.8
Pancreas	PANC0213	6.3
Pancreas	PANC0327	6.1
Pancreas	PANC0403	5.9
Pancreas	PANC0504	6.3
Pancreas	PANC0813	6.5
Pancreas	PANC1005	6.5
Pancreas	PANC1	7.2
Pancreas	PATU8902	6.7
Pancreas	PATU8988S	7.2
Pancreas	PATU8988T	5.9
Pancreas	PK1	6.6
Pancreas	PK45H	6.7
Pancreas	PK59	6.8
Pancreas	PL45	7
Pancreas	PSN1	6.5
Pancreas	QGP1	6.6
Pancreas	SNU213	6.3
Pancreas	SNU324	6.8
Pancreas	SNU410	6.7
Pancreas	SU8686	6.5
Pancreas	SUIT2	6.6
Pancreas	SW1990	6.6
Pancreas	T3M4	6.7
Pancreas	TCCPAN2	6.7
Pancreas	YAPC	6.9
Pleura	ACCMESO1	5.7
Pleura	DM3	6.3
Pleura	ISTMES1	6.9
Pleura	ISTMES2	6.8
Pleura	JL1	6.9
Pleura	MPP89	6
Pleura	MSTO211H	6.5
Pleura	NCIH2052	6.5
Pleura	NCIH2452	6.9
Pleura	NCIH28	6.8
Prostate	22RV1	6.5
Prostate	DU145	6.1
Prostate	LNCAPCLONEFGC	6.4
Prostate	MDAPCA2B	6.8
Prostate	NCIH660	6.8
Prostate	PC3	6.3
Prostate	VCAP	6.7
Salivary gland	A253	7
Salivary gland	YD15	6.2
Skin	A101D	6.3
Skin	A2058	6.5
Skin	A375	6.6
Skin	C32	6.6
Skin	CHL1	6.7
Skin	CJM	7.3
Skin	COLO679	6.6
Skin	COLO741	6.3
Skin	COLO783	6.4
Skin	COLO792	6.8
Skin	COLO800	6.4
Skin	COLO818	6.3
Skin	COLO829	6.6
Skin	COLO849	6.5
Skin	G361	6.4
Skin	GRM	6.9
Skin	HMCB	7.2
Skin	HS294T	6.4
Skin	HS600T	6.4
Skin	HS688AT	6.6
Skin	HS695T	6.7
Skin	HS839T	6.7
Skin	HS852T	6.6
Skin	HS895T	5.9
Skin	HS934T	6.5
Skin	HS936T	6.5
Skin	HS939T	6.5
Skin	HS940T	6.5
Skin	HS944T	6.1
Skin	HT144	6.9
Skin	IGR1	6
Skin	IGR37	6.5
Skin	IGR39	6.6
Skin	IPC298	6.2
Skin	K029AX	6.4
Skin	LOXIMVI	6.7
Skin	MALME3M	7
Skin	MDAMB435S	6.1
Skin	MELHO	6.5
Skin	MELJUSO	6.6
Skin	MEWO	6.8
Skin	RPMI7951	6.4
Skin	RVH421	6.7
Skin	SH4	6.8
Skin	SKMEL1	6.7
Skin	SKMEL24	6.3
Skin	SKMEL28	6.5
Skin	SKMEL2	6.3
Skin	SKMEL30	6.6
Skin	SKMEL31	6.5
Skin	SKMEL3	6.4
Skin	SKMEL5	6.2
Skin	UACC257	6.2
Skin	UACC62	6.1
Skin	WM115	6.6
Skin	WM1799	6.4
Skin	WM2664	6.3
Skin	WM793	6.6
Skin	WM88	6.5
Skin	WM983B	6.6
Small intestine	HUTU80	6.9
Soft tissue	A204	6.7
Soft tissue	G401	6.9
Soft tissue	G402	6.7
Soft tissue	GCT	6.5
Soft tissue	HS729	6.7
Soft tissue	HT1080	6.3
Soft tissue	KYM1	7
Soft tissue	MESSA	6.4
Soft tissue	RD	6.8
Soft tissue	RH30	6.9
Soft tissue	RH41	7.8
Soft tissue	RKN	6.3
Soft tissue	S117	6.4
Soft tissue	SJRH30	6.9
Soft tissue	SKLMS1	6.1
Soft tissue	SKUT1	6.7
Soft tissue	TE125T	6.2
Soft tissue	TE159T	6.6
Soft tissue	TE441T	7.3
Soft tissue	TE617T	6.7
Stomach	2313287	6.6
Stomach	AGS	7
Stomach	AZ521	6.8
Stomach	ECC10	6.9
Stomach	ECC12	6.8
Stomach	FU97	6.4
Stomach	GCIY	7.2
Stomach	GSS	7.3
Stomach	GSU	6.8
Stomach	HGC27	7
Stomach	HS746T	6.2
Stomach	HUG1N	6.9
Stomach	IM95	6.6
Stomach	KATOIII	6.7
Stomach	KE39	6.6
Stomach	LMSU	6.5
Stomach	MKN1	6.4
Stomach	MKN45	6.2
Stomach	MKN74	7.5
Stomach	MKN7	5.5
Stomach	NCCSTCK140	6.8
Stomach	NCIN87	7.1
Stomach	NUGC2	7.2
Stomach	NUGC3	5.5
Stomach	NUGC4	7.2
Stomach	OCUM1	7
Stomach	RERFGC1B	6.8
Stomach	SH10TC	6.9
Stomach	SNU16	6.5
Stomach	SNU1	6.9
Stomach	SNU216	7.3
Stomach	SNU520	6.9
Stomach	SNU5	6.4
Stomach	SNU601	6.7
Stomach	SNU620	6.5
Stomach	SNU668	7.2
Stomach	SNU719	6.7
Stomach	TGBC11TKB	6.6
Thyroid	8305C	6.5
Thyroid	8505C	6.5
Thyroid	BCPAP	6.5
Thyroid	BHT101	6.3
Thyroid	CAL62	6.1
Thyroid	CGTHW1	6.5
Thyroid	FTC133	6.6
Thyroid	FTC238	6.6
Thyroid	ML1	6.8
Thyroid	SW579	7
Thyroid	TT2609C02	6.4
Thyroid	TT	6.7
Upper aerodigestive tract	BHY	5.9
Upper aerodigestive tract	BICR16	6.1
Upper aerodigestive tract	BICR18	6.5
Upper aerodigestive tract	BICR22	6.8
Upper aerodigestive tract	BICR31	6.9
Upper aerodigestive tract	BICR56	6.6
Upper aerodigestive tract	BICR6	6.7
Upper aerodigestive tract	CAL27	6.4
Upper aerodigestive tract	CAL33	6.6
Upper aerodigestive tract	DETROIT562	6.4
Upper aerodigestive tract	FADU	7.1
Upper aerodigestive tract	HS840T	6.6
Upper aerodigestive tract	HSC2	6
Upper aerodigestive tract	HSC3	5.9
Upper aerodigestive tract	HSC4	6.9
Upper aerodigestive tract	PECAPJ15	6.4
Upper aerodigestive tract	PECAPJ34CLONEC12	6.4
Upper aerodigestive tract	PECAPJ41CLONED2	6.3
Upper aerodigestive tract	PECAPJ49	6.9
Upper aerodigestive tract	SCC15	6.2
Upper aerodigestive tract	SCC25	6.6
Upper aerodigestive tract	SCC4	6.8
Upper aerodigestive tract	SCC9	6.2
Upper aerodigestive tract	SNU1076	6.3
Upper aerodigestive tract	SNU1214	6.7
Upper aerodigestive tract	SNU46	6.4
Upper aerodigestive tract	SNU899	6.2
Upper aerodigestive tract	YD10B	6.5
Upper aerodigestive tract	YD38	6.3
Upper aerodigestive tract	YD8	7.3
Urinary tract	5637	6.3
Urinary tract	639V	7
Urinary tract	647V	6.9
Urinary tract	BC3C	6.4
Urinary tract	BFTC905	6.5
Urinary tract	CAL29	6.3
Urinary tract	HS172T	6.1
Urinary tract	HT1197	6.2
Urinary tract	HT1376	6.4
Urinary tract	J82	7
Urinary tract	JMSU1	6.3
Urinary tract	KMBC2	7.4
Urinary tract	KU1919	6.1
Urinary tract	RT11284	6.4
Urinary tract	RT112	6.3
Urinary tract	RT4	6.3
Urinary tract	SCABER	6.6
Urinary tract	SW1710	6.5
Urinary tract	SW780	6.4
Urinary tract	T24	7
Urinary tract	TCCSUP	7.2
Urinary tract	UMUC1	6.3
Urinary tract	UMUC3	6.5
Urinary tract	VMCUB1	6.1

> The Human Protein Atlas (HPA)

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Tissue	Expression Level (TPM)
Adipose tissue	18.1
Adrenal gland	14.2
Appendix	23.7
Bone marrow	34.5
Breast	19.6
Cerebral cortex	22.1
Cervix, uterine	32.2
Colon	13.7
Duodenum	12.9
Endometrium	43.7
Epididymis	15.2
Esophagus	18.3
Fallopian tube	36.7
Gallbladder	25.7
Heart muscle	10
Kidney	13.4
Liver	7.4
Lung	23.9
Lymph node	21.3
Ovary	46.1
Pancreas	5.2
Parathyroid gland	45.5
Placenta	23.9
Prostate	25.1
Rectum	15.4
Salivary gland	7.3
Seminal vesicle	22
Skeletal muscle	10.2
Skin	23
Small intestine	15.7
Smooth muscle	29.1
Spleen	29.4
Stomach	14.9
Testis	60.4
Thyroid gland	39
Tonsil	19.1
Urinary bladder	18.1

> Text Mining based Expression

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PMID	Expression	Cancer	Evidence
26980735	Overexpression	Oral Cavity Carcinoma	Examinations on clinical samples exhibited that MMP-9, CREBBP, and EP300 were significantly increased in oral cancer tissues.
26628108	Overexpression	Lung Carcinoma	Elevated expression of CBP was detected in lung cancer cells and tumor tissues compared to the normal lung cells and tissues.
26541837	Overexpression	Renal Cell Carcinoma	On the contrary, the expression levels of miRNA-381 target genes (CBP, β-catenin and LEF-1) were significantly increased in cells and tissues.
25915404	Overexpression	Bladder Carcinoma	Among the 42 upregulated and 14 downregulated proteins with statistical significance in BC tissues, CREB-binding protein and CD81 were selected as representative upregulated and downregulated candidate biomarkers, respectively.; Taken together, our findings suggest that expression of CREB-binding protein and CD81 in BC tissue specimens may have prognostic value in patients with primary HG NMIBC.

Summary
Symbol	CREBBP
Name	CREB binding protein
Aliases	KAT3A; RSTS; Rubinstein-Taybi syndrome; CREB-binding protein
Location	16p13.3
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)

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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	0.536	2.06e-31	43.6	46.5	9.9	Loss
BRCA	Breast invasive carcinoma	1075	0.511	1.54e-72	8.7	39.1	52.2	Gain
CESC	Cervical and endocervical cancers	292	0.531	1.11e-22	12	68.2	19.9	Neutral
COAD	Colon adenocarcinoma	449	0.302	6.1e-11	9.4	66.8	23.8	Neutral
ESCA	Esophageal carcinoma	183	0.462	4.53e-11	33.3	48.1	18.6	Neutral
GBM	Glioblastoma multiforme	147	0.31	0.000136	13.6	77.6	8.8	Neutral
HNSC	Head and Neck squamous cell carcinoma	514	0.369	4.77e-18	14.2	64.8	21	Neutral
KIRC	Kidney renal clear cell carcinoma	525	0.154	0.000409	2.3	76.6	21.1	Neutral
KIRP	Kidney renal papillary cell carcinoma	288	0.282	1.14e-06	1.7	45.1	53.1	Gain
LAML	Acute Myeloid Leukemia	166	0.018	0.815	1.2	98.2	0.6	Neutral
LGG	Brain Lower Grade Glioma	513	0.153	0.000509	3.5	92.4	4.1	Neutral
LIHC	Liver hepatocellular carcinoma	364	0.448	2.34e-19	30.2	58.8	11	Neutral
LUAD	Lung adenocarcinoma	512	0.411	3.07e-22	18.9	50.2	30.9	Neutral
LUSC	Lung squamous cell carcinoma	498	0.423	5.12e-23	37.8	46.4	15.9	Loss
OV	Ovarian serous cystadenocarcinoma	300	0.525	1.28e-22	57.7	27	15.3	Loss
PAAD	Pancreatic adenocarcinoma	177	0.431	2.22e-09	7.3	78	14.7	Neutral
PCPG	Pheochromocytoma and Paraganglioma	162	0.35	4.95e-06	6.8	89.5	3.7	Neutral
PRAD	Prostate adenocarcinoma	491	0.204	5.39e-06	4.9	86.8	8.4	Neutral
READ	Rectum adenocarcinoma	164	0.441	3.34e-09	7.9	70.7	21.3	Neutral
SARC	Sarcoma	255	0.381	3.06e-10	20.4	55.3	24.3	Neutral
SKCM	Skin Cutaneous Melanoma	367	0.401	1.37e-15	17.7	63.8	18.5	Neutral
STAD	Stomach adenocarcinoma	413	0.505	3.75e-28	26.9	59.1	14	Neutral
TGCT	Testicular Germ Cell Tumors	150	0.304	0.000158	30	59.3	10.7	Neutral
THCA	Thyroid carcinoma	497	0.102	0.0226	0.2	96.8	3	Neutral
THYM	Thymoma	119	0.056	0.546	2.5	94.1	3.4	Neutral
UCEC	Uterine Corpus Endometrial Carcinoma	537	0.371	5.22e-19	17.9	74.9	7.3	Neutral

Summary
Symbol	CREBBP
Name	CREB binding protein
Aliases	KAT3A; RSTS; Rubinstein-Taybi syndrome; CREB-binding protein
Location	16p13.3
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

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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	-0.172	0.000385	17	408	-0.175	1.18e-08	NS/NA
BRCA	Breast invasive carcinoma	-0.247	2.11e-13	83	785	0	0.244	NS/NA
CESC	Cervical and endocervical cancers	-0.319	1.22e-08	3	306	NA	NA	NS/NA
COAD	Colon adenocarcinoma	-0.112	0.0463	19	297	0.001	0.0123	NS/NA
ESCA	Esophageal carcinoma	-0.144	0.0454	9	185	NA	NA	NS/NA
GBM	Glioblastoma multiforme	-0.252	0.0427	1	64	NA	NA	NS/NA
HNSC	Head and Neck squamous cell carcinoma	-0.228	8.24e-08	20	522	0.003	9.72e-06	NS/NA
KIRC	Kidney renal clear cell carcinoma	-0.102	0.0599	24	319	-0.02	4.61e-05	NS/NA
KIRP	Kidney renal papillary cell carcinoma	-0.266	3.53e-06	23	275	0	0.299	NS/NA
LAML	Acute Myeloid Leukemia	-0.129	0.0924	0	170	NA	NA	NS/NA
LGG	Brain Lower Grade Glioma	-0.094	0.0298	0	530	NA	NA	NS/NA
LIHC	Liver hepatocellular carcinoma	-0.123	0.0124	41	373	0.001	0.0233	NS/NA
LUAD	Lung adenocarcinoma	-0.185	4.85e-05	21	456	-0.098	1.36e-09	NS/NA
LUSC	Lung squamous cell carcinoma	-0.2	8.98e-05	8	370	NA	NA	NS/NA
OV	Ovarian serous cystadenocarcinoma	-0.683	0.0503	0	9	NA	NA	NS/NA
PAAD	Pancreatic adenocarcinoma	-0.012	0.871	4	179	NA	NA	NS/NA
PCPG	Pheochromocytoma and Paraganglioma	-0.114	0.12	3	184	NA	NA	NS/NA
PRAD	Prostate adenocarcinoma	-0.09	0.0374	35	498	0.161	4.85e-05	NS/NA
READ	Rectum adenocarcinoma	-0.109	0.277	2	99	NA	NA	NS/NA
SARC	Sarcoma	-0.157	0.0107	0	263	NA	NA	NS/NA
SKCM	Skin Cutaneous Melanoma	-0.177	0.000117	1	471	NA	NA	NS/NA
STAD	Stomach adenocarcinoma	-0.277	6.2e-08	0	372	NA	NA	NS/NA
TGCT	Testicular Germ Cell Tumors	-0.212	0.00798	0	156	NA	NA	NS/NA
THCA	Thyroid carcinoma	-0.055	0.193	50	509	-0.002	0.0163	NS/NA
THYM	Thymoma	-0.223	0.0138	2	120	NA	NA	NS/NA
UCEC	Uterine Corpus Endometrial Carcinoma	-0.014	0.768	34	431	-0.05	0.00176	NS/NA

Summary
Symbol	CREBBP
Name	CREB binding protein
Aliases	KAT3A; RSTS; Rubinstein-Taybi syndrome; CREB-binding protein
Location	16p13.3
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	2	Medium
Appendix	2	Medium
Bone marrow	1	Low
Breast	2	Medium
Bronchus	2	Medium
Caudate	2	Medium
Cerebellum	3	High
Cerebral cortex	2	Medium
Cervix, uterine	3	High
Colon	3	High
Duodenum	2	Medium
Endometrium	3	High
Epididymis	2	Medium
Esophagus	3	High
Fallopian tube	3	High
Gallbladder	3	High
Heart muscle	2	Medium
Hippocampus	1	Low
Kidney	2	Medium
Liver	2	Medium
Lung	2	Medium
Lymph node	2	Medium
Nasopharynx	3	High
Oral mucosa	3	High
Ovary	2	Medium
Pancreas	2	Medium
Parathyroid gland	2	Medium
Placenta	3	High
Prostate	2	Medium
Rectum	3	High
Salivary gland	2	Medium
Seminal vesicle	2	Medium
Skeletal muscle	1	Low
Skin	3	High
Small intestine	3	High
Smooth muscle	2	Medium
Soft tissue	2	Medium
Spleen	2	Medium
Stomach	2	Medium
Testis	3	High
Thyroid gland	3	High
Tonsil	2	Medium
Urinary bladder	3	High
Vagina	3	High

Summary
Symbol	CREBBP
Name	CREB binding protein
Aliases	KAT3A; RSTS; Rubinstein-Taybi syndrome; CREB-binding protein
Location	16p13.3
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	0.459	NS	24476821
BRCA	Breast invasive carcinoma	521	6.31e-13	Significant	23000897
COAD	Colon adenocarcinoma	149	0.0076	Significant	22810696
GBM	Glioblastoma multiforme	157	0.00271	Significant	26824661
HNSC	Head and Neck squamous cell carcinoma	279	0.000443	Significant	25631445
KIRP	Kidney renal papillary cell carcinoma	161	0.0285	Significant	26536169
LGG	Brain Lower Grade Glioma	513	9.89e-19	Significant	26824661
LUAD	Lung adenocarcinoma	230	0.0287	Significant	25079552
LUSC	Lung squamous cell carcinoma	178	0.284	NS	22960745
OV	Ovarian serous cystadenocarcinoma	287	0.0114	Significant	21720365
PRAD	Prostate adenocarcinoma	333	0.0809	NS	26544944
READ	Rectum adenocarcinoma	67	0.622	NS	22810696
SKCM	Skin Cutaneous Melanoma	315	0.00258	Significant	26091043
STAD	Stomach adenocarcinoma	277	0.000473	Significant	25079317
THCA	Thyroid carcinoma	391	0.748	NS	25417114
UCEC	Uterine Corpus Endometrial Carcinoma	232	0.055	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	0.938	0.755	NS
BRCA	Breast invasive carcinoma	1079	0.824	0.399	NS
CESC	Cervical and endocervical cancers	291	0.979	0.955	NS
COAD	Colon adenocarcinoma	439	1.211	0.516	NS
ESCA	Esophageal carcinoma	184	0.675	0.21	NS
GBM	Glioblastoma multiforme	158	0.826	0.45	NS
HNSC	Head and Neck squamous cell carcinoma	518	0.866	0.462	NS
KIRC	Kidney renal clear cell carcinoma	531	0.31	9.56e-07	Longer
KIRP	Kidney renal papillary cell carcinoma	287	1.917	0.157	NS
LAML	Acute Myeloid Leukemia	149	1.123	0.69	NS
LGG	Brain Lower Grade Glioma	511	0.536	0.0105	Longer
LIHC	Liver hepatocellular carcinoma	365	0.896	0.642	NS
LUAD	Lung adenocarcinoma	502	1.112	0.611	NS
LUSC	Lung squamous cell carcinoma	494	1.06	0.775	NS
OV	Ovarian serous cystadenocarcinoma	303	1.294	0.215	NS
PAAD	Pancreatic adenocarcinoma	177	1.25	0.442	NS
PCPG	Pheochromocytoma and Paraganglioma	179	0.778	0.783	NS
PRAD	Prostate adenocarcinoma	497	0.961	0.978	NS
READ	Rectum adenocarcinoma	159	0.436	0.176	NS
SARC	Sarcoma	259	0.968	0.907	NS
SKCM	Skin Cutaneous Melanoma	459	1.566	0.0209	Shorter
STAD	Stomach adenocarcinoma	388	0.902	0.641	NS
TGCT	Testicular Germ Cell Tumors	134	1.004	0.998	NS
THCA	Thyroid carcinoma	500	3.536	0.229	NS
THYM	Thymoma	119	0.45	0.269	NS
UCEC	Uterine Corpus Endometrial Carcinoma	543	1.001	0.996	NS

> Stage

[ TOP ]

Association between expresson and stage.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
BLCA	Bladder urothelial carcinoma	406	-0.056	0.263	NS
BRCA	Breast invasive carcinoma	1071	-0.04	0.187	NS
CESC	Cervical and endocervical cancers	167	-0.069	0.373	NS
COAD	Colon adenocarcinoma	445	0.09	0.0579	NS
ESCA	Esophageal carcinoma	162	-0.075	0.344	NS
HNSC	Head and Neck squamous cell carcinoma	448	-0.01	0.84	NS
KIRC	Kidney renal clear cell carcinoma	531	-0.18	3.09e-05	Lower
KIRP	Kidney renal papillary cell carcinoma	260	0.21	0.000644	Higher
LIHC	Liver hepatocellular carcinoma	347	0.053	0.321	NS
LUAD	Lung adenocarcinoma	507	-0.024	0.588	NS
LUSC	Lung squamous cell carcinoma	497	0.058	0.199	NS
OV	Ovarian serous cystadenocarcinoma	302	-0.092	0.111	NS
PAAD	Pancreatic adenocarcinoma	176	0.099	0.193	NS
READ	Rectum adenocarcinoma	156	0.036	0.655	NS
SKCM	Skin Cutaneous Melanoma	410	-0.133	0.0068	Lower
STAD	Stomach adenocarcinoma	392	0.027	0.596	NS
TGCT	Testicular Germ Cell Tumors	81	-0.13	0.247	NS
THCA	Thyroid carcinoma	499	-0.011	0.81	NS
UCEC	Uterine Corpus Endometrial Carcinoma	501	-0.032	0.476	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	-0.093	0.128	NS
HNSC	Head and Neck squamous cell carcinoma	498	0.029	0.517	NS
KIRC	Kidney renal clear cell carcinoma	525	-0.187	1.58e-05	Lower
LGG	Brain Lower Grade Glioma	514	-0.041	0.354	NS
LIHC	Liver hepatocellular carcinoma	366	-0.1	0.0552	NS
OV	Ovarian serous cystadenocarcinoma	296	0.017	0.771	NS
PAAD	Pancreatic adenocarcinoma	176	0.044	0.562	NS
STAD	Stomach adenocarcinoma	406	0.084	0.0897	NS
UCEC	Uterine Corpus Endometrial Carcinoma	534	0.041	0.341	NS

Summary
Symbol	CREBBP
Name	CREB binding protein
Aliases	KAT3A; RSTS; Rubinstein-Taybi syndrome; CREB-binding protein
Location	16p13.3
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	CREBBP
Name	CREB binding protein
Aliases	KAT3A; RSTS; Rubinstein-Taybi syndrome; CREB-binding protein
Location	16p13.3
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 ]

DrugBank ID	Name	Type	All Targets
DB08655	9-ACETYL-2,3,4,9-TETRAHYDRO-1H-CARBAZOL-1-ONE	Small Molecule Drug

Summary
Symbol	CREBBP
Name	CREB binding protein
Aliases	KAT3A; RSTS; Rubinstein-Taybi syndrome; CREB-binding protein
Location	16p13.3
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
26980735	Oral Cavity Carcinoma	partner	MMP-9; EP300	Positive correlation	Moreover, the relative level of CREBBP was positively correlated with the expression of MMP-9 and EP300.
26541837	Renal Cell Carcinoma	upstream	miRNA-381	Negative regulation	Bioinformatics analysis showed that CREB binding protein (CBP), β-catenin and lymphoid enhancer binding factor-1 (LEF-1) were the potential targets of miRNA-381. On the contrary, the expression levels of miRNA-381 target genes (CBP, β-catenin and LEF-1) were significantly increased in cells and tissues.
25917266	Hyperdiploid B Acute Lymphoblastic Leukemia	partner	KRAS	co-occurrence	AlthoughKRASandNRASmutations at relapse were similarly frequent (23% and 19%, respectively), only theKRASones concurred with theCREBBPmutations.; This observation implies that these two mutations exert an interdependent function and cooperate in aRASisoform-specific and synergistic manner under the selective pressure of the applied chemotherapy.
25548695	Acute Myeloid Leukemia	partner	MYST3	Fusion	MYST3/CREBBP Rearranged Acute Myeloid Leukemia after Adjuvant Chemotherapy for Breast Cancer.; AML with t (8;16) is a specific translocation leading to formation of a fusion protein (MYST3/CREBBP).
28097792	Acute Myeloid Leukemia	partner	KAT6A	Fusion	FISH identifies a KAT6A/CREBBP fusion caused by a cryptic insertional t(8;16) in a case of spontaneously remitting congenital acute myeloid leukemia with a normal karyotype. FISH for this translocation is warranted in congenital AML with a normal karyotype, and patients with KAT6A/CREBBP fusion should be conservatively managed.
27537276	Fibromyxoid Stroma Formation	partner	BCORL1	Fusion	Both OFMTs with CREBBP-BCORL1 fusions had areas of typical OFMT morphology, exhibiting uniform round to epithelioid cells arranged in cords or nesting pattern in a fibromyxoid stroma.