CR2Cancer

Summary
Symbol	HNF1A
Name	HNF1 homeobox A
Aliases	HNF1; LFB1; MODY3; TCF1; transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin prox ......
Location	12q24.31
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Domain, Function and Classification > Gene Ontology > KEGG and Reactome Pathway

> Domain, Function and Classification

[ TOP ]

Domain

PF04814 Hepatocyte nuclear factor 1 (HNF-1)
PF04813 Hepatocyte nuclear factor 1 (HNF-1)
PF04812 Hepatocyte nuclear factor 1 (HNF-1)
PF00046 Homeobox domain

Function

Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver. Required for the expression of several liver specific genes. Binds to the inverted palindrome 5'-GTTAATNATTAAC-3'.

Classification

Class	Modification	Substrate	Product	PubMed
#	#	#	#	#

> Gene Ontology [ TOP ]
Biological Process	GO:0003014 renal system process GO:0006352 DNA-templated transcription, initiation GO:0006367 transcription initiation from RNA polymerase II promoter GO:0008643 carbohydrate transport GO:0008645 hexose transport GO:0015749 monosaccharide transport GO:0015758 glucose transport GO:0031334 positive regulation of protein complex assembly GO:0033500 carbohydrate homeostasis GO:0035623 renal glucose absorption GO:0042593 glucose homeostasis GO:0043254 regulation of protein complex assembly GO:0044089 positive regulation of cellular component biogenesis GO:0046323 glucose import GO:0060260 regulation of transcription initiation from RNA polymerase II promoter GO:0060261 positive regulation of transcription initiation from RNA polymerase II promoter GO:0070293 renal absorption GO:2000142 regulation of DNA-templated transcription, initiation GO:2000144 positive regulation of DNA-templated transcription, initiation
Molecular Function	GO:0000982 transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
Cellular Component	-

> KEGG and Reactome Pathway [ TOP ]
KEGG	hsa04550 Signaling pathways regulating pluripotency of stem cells
Reactome	R-HSA-1266738: Developmental Biology R-HSA-186712: Regulation of beta-cell development R-HSA-210745: Regulation of gene expression in beta cells

Summary
Symbol	HNF1A
Name	HNF1 homeobox A
Aliases	HNF1; LFB1; MODY3; TCF1; transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin prox ......
Location	12q24.31
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
COSM430522	c.79A>C	p.I27L	Substitution - Missense	Soft_tissue
COSM24832	c.685C>T	p.R229*	Substitution - Nonsense	Large_intestine
COSM3931546	c.1375C>T	p.L459L	Substitution - coding silent	Liver
COSM4611384	c.864_865insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM5990206	c.732A>T	p.R244S	Substitution - Missense	Liver
COSM24925	c.747_764del18	p.Q250_G255delQAQGLG	Deletion - In frame	Liver
COSM3931546	c.1375C>T	p.L459L	Substitution - coding silent	Liver
COSM21486	c.872delC	p.P291fs*51	Deletion - Frameshift	Large_intestine
COSM935974	c.862delG	p.P291fs*51	Deletion - Frameshift	Large_intestine
COSM27395	c.502C>T	p.R168C	Substitution - Missense	Stomach
COSM24925	c.747_764del18	p.Q250_G255delQAQGLG	Deletion - In frame	Liver
COSM3703902	c.1781G>T	p.S594I	Substitution - Missense	Liver
COSM24903	c.476_479delGGGC	p.R159fs*26	Deletion - Frameshift	Liver
COSM3703899	c.1234A>G	p.M412V	Substitution - Missense	Liver
COSM217004	c.339_342delGCGT	p.R114fs*40	Deletion - Frameshift	Liver
COSM4950837	c.1621_1624-4del93	p.?	Unknown	Liver
COSM3457098	c.599G>A	p.R200Q	Substitution - Missense	Prostate
COSM3457098	c.599G>A	p.R200Q	Substitution - Missense	Skin
COSM46429	c.613A>C	p.K205Q	Substitution - Missense	Liver
COSM3931546	c.1375C>T	p.L459L	Substitution - coding silent	Liver
COSM1470609	c.1014C>T	p.G338G	Substitution - coding silent	Prostate
COSM3457110	c.1424C>T	p.P475L	Substitution - Missense	Skin
COSM46454	c.327-1G>T	p.?	Unknown	Liver
COSM5990203	c.666_667insAG	p.N223fs*11	Insertion - Frameshift	Liver
COSM3710701	c.1270C>A	p.P424T	Substitution - Missense	Upper_aerodigestive_tract
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM24905	c.327-2A>T	p.?	Unknown	Liver
COSM24906	c.77T>A	p.L26Q	Substitution - Missense	Liver
COSM21484	c.495G>T	p.W165C	Substitution - Missense	Liver
COSM21486	c.872delC	p.P291fs*51	Deletion - Frameshift	Large_intestine
COSM24898	c.196G>T	p.E66*	Substitution - Nonsense	Liver
COSM4611384	c.864_865insC	p.G292fs*25	Insertion - Frameshift	Stomach
COSM24931	c.620G>A	p.G207D	Substitution - Missense	Liver
COSM5374393	c.742C>T	p.P248S	Substitution - Missense	Skin
COSM3667104	c.426C>T	p.S142S	Substitution - coding silent	Liver
COSM4945597	c.1047C>G	p.H349Q	Substitution - Missense	Liver
COSM1359417	c.865delC	p.P291fs*51	Deletion - Frameshift	Stomach
COSM5369769	c.904C>G	p.H302D	Substitution - Missense	Lung
COSM24899	c.493T>A	p.W165R	Substitution - Missense	Liver
COSM24911	c.686G>A	p.R229Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1746803	c.422A>G	p.Q141R	Substitution - Missense	Urinary_tract
COSM46449	c.326+2_326+3delTA	p.?	Unknown	Liver
COSM46447	c.97_103delCCGGGGC	p.G34fs*119	Deletion - Frameshift	Liver
COSM4690799	c.1879G>C	p.A627P	Substitution - Missense	Large_intestine
COSM4984989	c.1460G>A	p.S487N	Substitution - Missense	Soft_tissue
COSM430522	c.79A>C	p.I27L	Substitution - Missense	Soft_tissue
COSM217005	c.1574C>T	p.T525I	Substitution - Missense	Liver
COSM46443	c.770A>C	p.N257T	Substitution - Missense	Liver
COSM5988497	c.13C>A	p.L5M	Substitution - Missense	Liver
COSM21486	c.872delC	p.P291fs*51	Deletion - Frameshift	Large_intestine
COSM46442	c.133_149del17	p.D45fs*9	Deletion - Frameshift	Liver
COSM1706376	c.412_413GG>AA	p.G138N	Substitution - Missense	Skin
COSM4166078	c.1124G>C	p.G375A	Substitution - Missense	Kidney
COSM21474	c.710A>G	p.N237S	Substitution - Missense	Liver
COSM24928	c.1072_1073CC>NNNNNNNNNNN	p.P358>XXXX	Complex - insertion inframe	Liver
COSM3931546	c.1375C>T	p.L459L	Substitution - coding silent	Urinary_tract
COSM24900	c.632A>C	p.Q211P	Substitution - Missense	Liver
COSM4801483	c.13C>T	p.L5L	Substitution - coding silent	Liver
COSM5945632	c.917G>T	p.G306V	Substitution - Missense	Central_nervous_system
COSM5591278	c.812G>A	p.R271Q	Substitution - Missense	Skin
COSM4457690	c.1055C>T	p.S352F	Substitution - Missense	Liver
COSM4457690	c.1055C>T	p.S352F	Substitution - Missense	Skin
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM430521	c.51C>G	p.L17L	Substitution - coding silent	Liver
COSM5609084	c.1131C>T	p.L377L	Substitution - coding silent	Skin
COSM3703901	c.1774T>C	p.S592P	Substitution - Missense	Liver
COSM46448	c.1107+1G>T	p.?	Unknown	Liver
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM4984989	c.1460G>A	p.S487N	Substitution - Missense	Liver
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM5609082	c.770A>G	p.N257S	Substitution - Missense	Skin
COSM5019699	c.864G>C	p.G288G	Substitution - coding silent	Soft_tissue
COSM24926	c.1288_1289delGG	p.G430fs*118	Deletion - Frameshift	Liver
COSM21485	c.749A>C	p.Q250P	Substitution - Missense	Liver
COSM24918	c.618G>C	p.W206C	Substitution - Missense	Liver
COSM430522	c.79A>C	p.I27L	Substitution - Missense	Soft_tissue
COSM4039424	c.522G>A	p.A174A	Substitution - coding silent	Stomach
COSM1559373	c.1545G>A	p.T515T	Substitution - coding silent	Soft_tissue
COSM21486	c.872delC	p.P291fs*51	Deletion - Frameshift	Liver
COSM1359418	c.1163G>A	p.S388N	Substitution - Missense	Large_intestine
COSM4984989	c.1460G>A	p.S487N	Substitution - Missense	Liver
COSM5990200	c.814C>T	p.R272C	Substitution - Missense	Liver
COSM21478	c.618G>T	p.W206C	Substitution - Missense	Liver
COSM253005	c.1131delC	p.P379fs*5	Deletion - Frameshift	Large_intestine
COSM24914	c.811_818delCGGCGCAA	p.K273fs*41	Deletion - Frameshift	Liver
COSM4984989	c.1460G>A	p.S487N	Substitution - Missense	Soft_tissue
COSM430521	c.51C>G	p.L17L	Substitution - coding silent	Liver
COSM5885085	c.?	p.N62S	Substitution - Missense	Soft_tissue
COSM430522	c.79A>C	p.I27L	Substitution - Missense	Soft_tissue
COSM21486	c.872delC	p.P291fs*51	Deletion - Frameshift	Large_intestine
COSM21485	c.749A>C	p.Q250P	Substitution - Missense	Liver
COSM24933	c.815G>A	p.R272H	Substitution - Missense	Liver
COSM430522	c.79A>C	p.I27L	Substitution - Missense	Liver
COSM4990212	c.1229G>A	p.G410E	Substitution - Missense	Skin
COSM5374392	c.288G>A	p.E96E	Substitution - coding silent	Skin
COSM4984989	c.1460G>A	p.S487N	Substitution - Missense	Liver
COSM24901	c.71_82del12	p.I27_L30delIQAL	Deletion - In frame	Liver
COSM4136179	c.436C>A	p.Q146K	Substitution - Missense	Pancreas
COSM5596843	c.972G>A	p.Q324Q	Substitution - coding silent	Skin
COSM935974	c.862delG	p.P291fs*51	Deletion - Frameshift	Endometrium
COSM4765399	c.865_866insC	p.G292fs*25	Insertion - Frameshift	Stomach
COSM21475	c.436delC	p.Q146fs*9	Deletion - Frameshift	Liver
COSM24907	c.391C>T	p.R131W	Substitution - Missense	Stomach
COSM4801428	c.12A>G	p.K4K	Substitution - coding silent	Liver
COSM5374395	c.1310-2A>G	p.?	Unknown	Skin
COSM24925	c.747_764del18	p.Q250_G255delQAQGLG	Deletion - In frame	Liver
COSM24932	c.956delG	p.G319fs*23	Deletion - Frameshift	Liver
COSM5609086	c.229G>A	p.D77N	Substitution - Missense	Skin
COSM3703791	c.775G>T	p.V259F	Substitution - Missense	Liver
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM3931546	c.1375C>T	p.L459L	Substitution - coding silent	Liver
COSM46441	c.931_932GC>ACCTA	p.A311>TY	Complex - insertion inframe	Liver
COSM5990207	c.1072_1073CC>TACAGGCTCA	p.P358fs*9	Complex - frameshift	Liver
COSM21480	c.27_33delGACGGAG	p.Q9fs*11	Deletion - Frameshift	Liver
COSM253005	c.1131delC	p.P379fs*5	Deletion - Frameshift	Large_intestine
COSM3398442	c.1606C>T	p.L536F	Substitution - Missense	Central_nervous_system
COSM935970	c.341G>A	p.R114H	Substitution - Missense	Urinary_tract
COSM4928420	c.787C>G	p.R263G	Substitution - Missense	Liver
COSM2175476	c.1108-4G>A	p.?	Unknown	Large_intestine
COSM21471	c.617G>T	p.W206L	Substitution - Missense	Liver
COSM5988495	c.956_1127del172	p.G319fs*8	Deletion - Frameshift	Liver
COSM24916	c.257_258delTC	p.L86fs*9	Deletion - Frameshift	Liver
COSM24927	c.811C>T	p.R271W	Substitution - Missense	Liver
COSM5019699	c.864G>C	p.G288G	Substitution - coding silent	Soft_tissue
COSM4454024	c.389A>C	p.Q130P	Substitution - Missense	Skin
COSM430522	c.79A>C	p.I27L	Substitution - Missense	Soft_tissue
COSM3667055	c.670C>G	p.P224A	Substitution - Missense	Liver
COSM430521	c.51C>G	p.L17L	Substitution - coding silent	Liver
COSM24930	c.775G>C	p.V259L	Substitution - Missense	Liver
COSM1359408	c.392G>T	p.R131L	Substitution - Missense	Central_nervous_system
COSM1582959	c.499G>A	p.V167I	Substitution - Missense	Meninges
COSM3457111	c.1581C>T	p.T527T	Substitution - coding silent	Skin
COSM4641632	c.1699G>A	p.V567I	Substitution - Missense	Large_intestine
COSM430522	c.79A>C	p.I27L	Substitution - Missense	Liver
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM2175451	c.692C>T	p.T231M	Substitution - Missense	Liver
COSM5990158	c.842T>A	p.L281Q	Substitution - Missense	Liver
COSM1725049	c.249_250insC	p.I85fs*11	Insertion - Frameshift	Liver
COSM430521	c.51C>G	p.L17L	Substitution - coding silent	Liver
COSM3457088	c.226G>A	p.D76N	Substitution - Missense	Skin
COSM935974	c.862delG	p.P291fs*51	Deletion - Frameshift	Large_intestine
COSM4401940	c.239A>G	p.D80G	Substitution - Missense	Skin
COSM4984989	c.1460G>A	p.S487N	Substitution - Missense	Soft_tissue
COSM4650292	c.1741G>A	p.A581T	Substitution - Missense	Large_intestine
COSM21483	c.379A>T	p.N127Y	Substitution - Missense	Liver
COSM415997	c.521C>T	p.A174V	Substitution - Missense	Skin
COSM4849598	c.1866C>T	p.I622I	Substitution - coding silent	Cervix
COSM4928776	c.761T>A	p.L254Q	Substitution - Missense	Liver
COSM311821	c.1708C>A	p.Q570K	Substitution - Missense	Soft_tissue
COSM1559373	c.1545G>A	p.T515T	Substitution - coding silent	Central_nervous_system
COSM21486	c.872delC	p.P291fs*51	Deletion - Frameshift	Large_intestine
COSM1559371	c.293C>G	p.A98G	Substitution - Missense	Central_nervous_system
COSM21478	c.618G>T	p.W206C	Substitution - Missense	Liver
COSM21486	c.872delC	p.P291fs*51	Deletion - Frameshift	Large_intestine
COSM21477	c.817A>G	p.K273E	Substitution - Missense	Liver
COSM4984989	c.1460G>A	p.S487N	Substitution - Missense	Soft_tissue
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM24924	c.1340C>T	p.P447L	Substitution - Missense	Liver
COSM5019699	c.864G>C	p.G288G	Substitution - coding silent	Soft_tissue
COSM35862	c.368_369ins24	p.L123_Q124insGEDGQVLP	Insertion - In frame	Liver
COSM430522	c.79A>C	p.I27L	Substitution - Missense	Soft_tissue
COSM4984989	c.1460G>A	p.S487N	Substitution - Missense	Liver
COSM24931	c.620G>A	p.G207D	Substitution - Missense	Liver
COSM21484	c.495G>T	p.W165C	Substitution - Missense	Liver
COSM4950837	c.1621_1624-4del93	p.?	Unknown	Liver
COSM21471	c.617G>T	p.W206L	Substitution - Missense	Liver
COSM24938	c.527-2A>G	p.?	Unknown	Liver
COSM394948	c.857A>T	p.Y286F	Substitution - Missense	Lung
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Large_intestine
COSM1476243	c.863_864insC	p.P289fs*28	Insertion - Frameshift	Breast
COSM4984989	c.1460G>A	p.S487N	Substitution - Missense	Liver
COSM3457092	c.479C>A	p.A160D	Substitution - Missense	Skin
COSM430522	c.79A>C	p.I27L	Substitution - Missense	Liver
COSM1628419	c.1228G>T	p.G410W	Substitution - Missense	Liver
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM935973	c.564G>T	p.E188D	Substitution - Missense	Endometrium
COSM1476243	c.863_864insC	p.P289fs*28	Insertion - Frameshift	Large_intestine
COSM21478	c.618G>T	p.W206C	Substitution - Missense	Liver
COSM21486	c.872delC	p.P291fs*51	Deletion - Frameshift	Liver
COSM5019699	c.864G>C	p.G288G	Substitution - coding silent	Liver
COSM2175439	c.481G>A	p.A161T	Substitution - Missense	Prostate
COSM21476	c.82C>T	p.Q28*	Substitution - Nonsense	Skin
COSM4955917	c.1234A>T	p.M412L	Substitution - Missense	Liver
COSM4801428	c.12A>G	p.K4K	Substitution - coding silent	Liver
COSM5020679	c.293C>T	p.A98V	Substitution - Missense	Soft_tissue
COSM46424	c.788G>T	p.R263L	Substitution - Missense	Liver
COSM46455	c.534_535insA	p.H179fs*9	Insertion - Frameshift	Liver
COSM3667107	c.1378C>T	p.Q460*	Substitution - Nonsense	Liver
COSM24909	c.185_194del10	p.N62fs*90	Deletion - Frameshift	Liver
COSM3457100	c.669C>T	p.N223N	Substitution - coding silent	Skin
COSM46440	c.695T>A	p.L232Q	Substitution - Missense	Liver
COSM935974	c.862delG	p.P291fs*51	Deletion - Frameshift	Large_intestine
COSM430521	c.51C>G	p.L17L	Substitution - coding silent	Liver
COSM27396	c.1042delC	p.L348fs*16	Deletion - Frameshift	Endometrium
COSM21486	c.872delC	p.P291fs*51	Deletion - Frameshift	Endometrium
COSM24920	c.814C>A	p.R272S	Substitution - Missense	Liver
COSM430522	c.79A>C	p.I27L	Substitution - Missense	Soft_tissue
COSM4791694	c.614A>C	p.K205T	Substitution - Missense	Liver
COSM217005	c.1574C>T	p.T525I	Substitution - Missense	Liver
COSM4773174	c.1773C>A	p.S591S	Substitution - coding silent	Stomach
COSM4990209	c.183C>T	p.P61P	Substitution - coding silent	Skin
COSM2175486	c.1336G>A	p.V446M	Substitution - Missense	Large_intestine
COSM384740	c.1765A>T	p.T589S	Substitution - Missense	Lung
COSM21471	c.617G>T	p.W206L	Substitution - Missense	Liver
COSM24692	c.787C>T	p.R263C	Substitution - Missense	Liver
COSM430521	c.51C>G	p.L17L	Substitution - coding silent	Large_intestine
COSM4955917	c.1234A>T	p.M412L	Substitution - Missense	Liver
COSM1725153	c.1238C>T	p.T413I	Substitution - Missense	Liver
COSM935971	c.392G>A	p.R131Q	Substitution - Missense	Endometrium
COSM27398	c.1108-1G>T	p.?	Unknown	Endometrium
COSM24902	c.245_246ins14	p.P83fs*77	Insertion - Frameshift	Liver
COSM24938	c.527-2A>G	p.?	Unknown	Liver
COSM4526942	c.142G>A	p.E48K	Substitution - Missense	Large_intestine
COSM21474	c.710A>G	p.N237S	Substitution - Missense	Liver
COSM1725153	c.1238C>T	p.T413I	Substitution - Missense	Liver
COSM430521	c.51C>G	p.L17L	Substitution - coding silent	Liver
COSM4169414	c.?	p.E66D	Substitution - Missense	Skin
COSM5661820	c.802T>A	p.F268I	Substitution - Missense	Soft_tissue
COSM269326	c.1611G>A	p.T537T	Substitution - coding silent	Large_intestine
COSM691760	c.1213A>T	p.M405L	Substitution - Missense	Lung
COSM1605657	c.326+3A>G	p.?	Unknown	Liver
COSM3703791	c.775G>T	p.V259F	Substitution - Missense	Liver
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM1559373	c.1545G>A	p.T515T	Substitution - coding silent	Soft_tissue
COSM5990204	c.198_199ins10	p.T67fs*32	Insertion - Frameshift	Liver
COSM3384093	c.854C>T	p.T285M	Substitution - Missense	Pancreas
COSM4602680	c.1405C>T	p.H469Y	Substitution - Missense	Upper_aerodigestive_tract
COSM21471	c.617G>T	p.W206L	Substitution - Missense	Liver
COSM2175424	c.5T>C	p.V2A	Substitution - Missense	Large_intestine
COSM46433	c.618_628del11	p.W206fs*10	Deletion - Frameshift	Liver
COSM430521	c.51C>G	p.L17L	Substitution - coding silent	Liver
COSM24900	c.632A>C	p.Q211P	Substitution - Missense	Liver
COSM21474	c.710A>G	p.N237S	Substitution - Missense	Liver
COSM4984989	c.1460G>A	p.S487N	Substitution - Missense	Liver
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM4984989	c.1460G>A	p.S487N	Substitution - Missense	Soft_tissue
COSM430521	c.51C>G	p.L17L	Substitution - coding silent	Liver
COSM4515736	c.1280_1281CC>TT	p.T427I	Substitution - Missense	Skin
COSM5352418	c.527-1_527ins62	p.Q176fs*11	Unknown	Liver
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM2175424	c.5T>C	p.V2A	Substitution - Missense	Large_intestine
COSM4542910	c.327G>A	p.Q109Q	Substitution - coding silent	Skin
COSM24927	c.811C>T	p.R271W	Substitution - Missense	Prostate
COSM217005	c.1574C>T	p.T525I	Substitution - Missense	Liver
COSM1127531	c.1703C>T	p.P568L	Substitution - Missense	Prostate
COSM5347298	c.79_90del12	p.I27_L30delIQAL	Deletion - In frame	Liver
COSM21471	c.617G>T	p.W206L	Substitution - Missense	Liver
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM21486	c.872delC	p.P291fs*51	Deletion - Frameshift	Liver
COSM5945969	c.?	p.R278V	Substitution - Missense	Peritoneum
COSM430522	c.79A>C	p.I27L	Substitution - Missense	Liver
COSM4928918	c.511C>T	p.R171*	Substitution - Nonsense	Liver
COSM24832	c.685C>T	p.R229*	Substitution - Nonsense	Liver
COSM5990195	c.60G>T	p.G20G	Substitution - coding silent	Liver
COSM46431	c.105_144>TTC	p.Y36fs*107	Complex - frameshift	Liver
COSM3676395	c.1377G>A	p.L459L	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM2175488	c.1388A>G	p.Q463R	Substitution - Missense	Large_intestine
COSM21486	c.872delC	p.P291fs*51	Deletion - Frameshift	Large_intestine
COSM46454	c.327-1G>T	p.?	Unknown	Liver
COSM3457104	c.702G>A	p.E234E	Substitution - coding silent	Skin
COSM3931546	c.1375C>T	p.L459L	Substitution - coding silent	Liver
COSM5988500	c.1804G>A	p.D602N	Substitution - Missense	Liver
COSM935970	c.341G>A	p.R114H	Substitution - Missense	Endometrium
COSM430522	c.79A>C	p.I27L	Substitution - Missense	Large_intestine
COSM935974	c.862delG	p.P291fs*51	Deletion - Frameshift	Large_intestine
COSM4990208	c.182C>T	p.P61L	Substitution - Missense	Skin
COSM5510642	c.934C>A	p.L312I	Substitution - Missense	Biliary_tract
COSM5988494	c.1297_1298insT	p.T433fs*116	Insertion - Frameshift	Liver
COSM21478	c.618G>T	p.W206C	Substitution - Missense	Liver
COSM1359417	c.865delC	p.P291fs*51	Deletion - Frameshift	Breast
COSM3356290	c.348G>A	p.A116A	Substitution - coding silent	Skin
COSM5611305	c.800_801GG>AA	p.W267*	Substitution - Nonsense	Skin
COSM21473	c.730A>G	p.R244G	Substitution - Missense	Liver
COSM21471	c.617G>T	p.W206L	Substitution - Missense	Liver
COSM21487	c.526+1G>A	p.?	Unknown	Liver
COSM4984989	c.1460G>A	p.S487N	Substitution - Missense	Liver
COSM5483726	c.1755C>T	p.S585S	Substitution - coding silent	Large_intestine
COSM21485	c.749A>C	p.Q250P	Substitution - Missense	Liver
COSM4765399	c.865_866insC	p.G292fs*25	Insertion - Frameshift	Stomach
COSM5609087	c.1267G>A	p.G423S	Substitution - Missense	Skin
COSM3782703	c.1383C>T	p.P461P	Substitution - coding silent	Prostate
COSM5020679	c.293C>T	p.A98V	Substitution - Missense	Soft_tissue
COSM46438	c.476G>A	p.R159Q	Substitution - Missense	Liver
COSM217004	c.339_342delGCGT	p.R114fs*40	Deletion - Frameshift	Liver
COSM3954289	c.373C>A	p.Q125K	Substitution - Missense	Lung
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM1559373	c.1545G>A	p.T515T	Substitution - coding silent	Soft_tissue
COSM21476	c.82C>T	p.Q28*	Substitution - Nonsense	Liver
COSM5019699	c.864G>C	p.G288G	Substitution - coding silent	Soft_tissue
COSM3931546	c.1375C>T	p.L459L	Substitution - coding silent	Liver
COSM95308	c.1370C>A	p.T457N	Substitution - Missense	Lung
COSM935969	c.340C>T	p.R114C	Substitution - Missense	Endometrium
COSM5990198	c.1232_1233insGG	p.M412fs*2	Insertion - Frameshift	Liver
COSM1605658	c.365A>G	p.Y122C	Substitution - Missense	Liver
COSM46430	c.56C>A	p.S19*	Substitution - Nonsense	Liver
COSM5609091	c.1295C>T	p.S432F	Substitution - Missense	Skin
COSM24692	c.787C>T	p.R263C	Substitution - Missense	Liver
COSM24905	c.327-2A>T	p.?	Unknown	Liver
COSM381370	c.341G>T	p.R114L	Substitution - Missense	Lung
COSM4791694	c.614A>C	p.K205T	Substitution - Missense	Liver
COSM3931546	c.1375C>T	p.L459L	Substitution - coding silent	Liver
COSM2175490	c.1539C>A	p.T513T	Substitution - coding silent	Large_intestine
COSM5817099	c.651C>A	p.A217A	Substitution - coding silent	Liver
COSM1285405	c.1692C>T	p.T564T	Substitution - coding silent	Autonomic_ganglia
COSM1605660	c.1767A>G	p.T589T	Substitution - coding silent	Liver
COSM4459308	c.111C>T	p.L37L	Substitution - coding silent	Skin
COSM5374391	c.234G>A	p.G78G	Substitution - coding silent	Skin
COSM311821	c.1708C>A	p.Q570K	Substitution - Missense	Lung
COSM430522	c.79A>C	p.I27L	Substitution - Missense	Liver
COSM21486	c.872delC	p.P291fs*51	Deletion - Frameshift	Liver
COSM24922	c.685C>G	p.R229G	Substitution - Missense	Liver
COSM3457089	c.235G>A	p.E79K	Substitution - Missense	Skin
COSM24931	c.620G>A	p.G207D	Substitution - Missense	Liver
COSM935970	c.341G>A	p.R114H	Substitution - Missense	Large_intestine
COSM935976	c.1594G>A	p.A532T	Substitution - Missense	Endometrium
COSM4984989	c.1460G>A	p.S487N	Substitution - Missense	Liver
COSM1359417	c.865delC	p.P291fs*51	Deletion - Frameshift	Large_intestine
COSM21482	c.803T>G	p.F268C	Substitution - Missense	Liver
COSM4984989	c.1460G>A	p.S487N	Substitution - Missense	Soft_tissue
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM46439	c.711T>A	p.N237K	Substitution - Missense	Liver
COSM4146721	c.99G>C	p.P33P	Substitution - coding silent	Thyroid
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM21473	c.730A>G	p.R244G	Substitution - Missense	Liver
COSM1359417	c.865delC	p.P291fs*51	Deletion - Frameshift	Large_intestine
COSM3457106	c.875G>A	p.G292E	Substitution - Missense	Skin
COSM5070083	c.1092T>C	p.S364S	Substitution - coding silent	Large_intestine
COSM4039428	c.1391T>C	p.F464S	Substitution - Missense	Stomach
COSM1559373	c.1545G>A	p.T515T	Substitution - coding silent	Soft_tissue
COSM430522	c.79A>C	p.I27L	Substitution - Missense	Liver
COSM97133	c.834_835ins35	p.H279fs*75	Insertion - Frameshift	Liver
COSM21474	c.710A>G	p.N237S	Substitution - Missense	Liver
COSM21477	c.817A>G	p.K273E	Substitution - Missense	Breast
COSM5990201	c.731G>T	p.R244I	Substitution - Missense	Liver
COSM24923	c.779C>T	p.T260M	Substitution - Missense	Liver
COSM935972	c.403G>A	p.D135N	Substitution - Missense	Endometrium
COSM4984989	c.1460G>A	p.S487N	Substitution - Missense	Soft_tissue
COSM5990192	c.646_646delC	p.Q216fs*17	Deletion - Frameshift	Liver
COSM24936	c.631C>T	p.Q211*	Substitution - Nonsense	Liver
COSM1559373	c.1545G>A	p.T515T	Substitution - coding silent	Thyroid
COSM21471	c.617G>T	p.W206L	Substitution - Missense	Liver
COSM24923	c.779C>T	p.T260M	Substitution - Missense	Liver
COSM935974	c.862delG	p.P291fs*51	Deletion - Frameshift	Large_intestine
COSM4925599	c.976G>T	p.A326S	Substitution - Missense	Liver
COSM3457096	c.555G>A	p.L185L	Substitution - coding silent	Oesophagus
COSM4690794	c.335C>T	p.P112L	Substitution - Missense	Large_intestine
COSM430522	c.79A>C	p.I27L	Substitution - Missense	Liver
COSM3666561	c.956-1delG	p.?	Unknown	Liver
COSM24925	c.747_764del18	p.Q250_G255delQAQGLG	Deletion - In frame	Liver
COSM21478	c.618G>T	p.W206C	Substitution - Missense	Liver
COSM935974	c.862delG	p.P291fs*51	Deletion - Frameshift	Large_intestine
COSM46427	c.650_654delCCTAT	p.A217fs*7	Deletion - Frameshift	Liver
COSM24692	c.787C>T	p.R263C	Substitution - Missense	Liver
COSM5019699	c.864G>C	p.G288G	Substitution - coding silent	Soft_tissue
COSM4791692	c.590A>C	p.K197T	Substitution - Missense	Liver
COSM1359416	c.833G>A	p.R278Q	Substitution - Missense	Large_intestine
COSM24919	c.197_198insA	p.T67fs*29	Insertion - Frameshift	Liver
COSM24921	c.682G>T	p.E228*	Substitution - Nonsense	Liver
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM24925	c.747_764del18	p.Q250_G255delQAQGLG	Deletion - In frame	Liver
COSM24917	c.526C>T	p.Q176*	Substitution - Nonsense	Liver
COSM4916666	c.326+2T>A	p.?	Unknown	Liver
COSM1209834	c.458C>A	p.P153H	Substitution - Missense	Large_intestine
COSM24935	c.710_711insA	p.N237fs*2	Insertion - Frameshift	Liver
COSM4984989	c.1460G>A	p.S487N	Substitution - Missense	Soft_tissue
COSM5776378	c.1488G>A	p.L496L	Substitution - coding silent	Breast
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM5352414	c.1502-1_1502ins300	p.A501_L502ins17	Insertion - In frame	Liver
COSM4445211	c.1720A>G	p.S574G	Substitution - Missense	Large_intestine
COSM251348	c.689_713+6del31	p.?	Unknown	Liver
COSM21473	c.730A>G	p.R244G	Substitution - Missense	Liver
COSM21472	c.872_884del13	p.P291fs*47	Deletion - Frameshift	Liver
COSM4168652	c.475C>T	p.R159W	Substitution - Missense	Peritoneum
COSM4611384	c.864_865insC	p.G292fs*25	Insertion - Frameshift	Large_intestine
COSM24934	c.1168G>T	p.E390*	Substitution - Nonsense	Liver
COSM4039429	c.1769-2A>G	p.?	Unknown	Stomach
COSM1285404	c.1011C>T	p.S337S	Substitution - coding silent	Ovary
COSM27395	c.502C>T	p.R168C	Substitution - Missense	Central_nervous_system
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM21486	c.872delC	p.P291fs*51	Deletion - Frameshift	Large_intestine
COSM4690797	c.1125delC	p.L377fs*7	Deletion - Frameshift	Large_intestine
COSM21471	c.617G>T	p.W206L	Substitution - Missense	Liver
COSM1559372	c.864G>T	p.G288G	Substitution - coding silent	Central_nervous_system
COSM24910	c.198_202delGACTC	p.T67fs*27	Deletion - Frameshift	Liver
COSM430521	c.51C>G	p.L17L	Substitution - coding silent	Liver
COSM21471	c.617G>T	p.W206L	Substitution - Missense	Liver
COSM21477	c.817A>G	p.K273E	Substitution - Missense	Liver
COSM1559373	c.1545G>A	p.T515T	Substitution - coding silent	Soft_tissue
COSM21478	c.618G>T	p.W206C	Substitution - Missense	Liver
COSM21476	c.82C>T	p.Q28*	Substitution - Nonsense	Liver
COSM24901	c.71_82del12	p.I27_L30delIQAL	Deletion - In frame	Liver
COSM1559373	c.1545G>A	p.T515T	Substitution - coding silent	Soft_tissue
COSM5988493	c.1392C>T	p.F464F	Substitution - coding silent	Liver
COSM46448	c.1107+1G>T	p.?	Unknown	Liver
COSM5352415	c.1310-1_1310ins283	p.L438fs*21	Unknown	Liver
COSM4984989	c.1460G>A	p.S487N	Substitution - Missense	Liver
COSM5990197	c.370C>T	p.Q124*	Substitution - Nonsense	Liver
COSM3457084	c.60G>A	p.G20G	Substitution - coding silent	Skin
COSM4801483	c.13C>T	p.L5L	Substitution - coding silent	Liver
COSM4984989	c.1460G>A	p.S487N	Substitution - Missense	Liver
COSM3703901	c.1774T>C	p.S592P	Substitution - Missense	Liver
COSM24904	c.653A>G	p.Y218C	Substitution - Missense	Breast
COSM24918	c.618G>C	p.W206C	Substitution - Missense	Liver
COSM33233	c.1721G>A	p.S574N	Substitution - Missense	Ovary
COSM5990205	c.1044_1045insTC	p.H349fs*16	Insertion - Frameshift	Liver
COSM430522	c.79A>C	p.I27L	Substitution - Missense	Soft_tissue
COSM5369873	c.928C>T	p.P310S	Substitution - Missense	Lung
COSM46434	c.1067_1073delTGGAGCC	p.L356fs*6	Deletion - Frameshift	Liver
COSM46445	c.629C>T	p.S210F	Substitution - Missense	Large_intestine
COSM21486	c.872delC	p.P291fs*51	Deletion - Frameshift	Large_intestine
COSM21487	c.526+1G>A	p.?	Unknown	Liver
COSM21471	c.617G>T	p.W206L	Substitution - Missense	Liver
COSM3457085	c.119G>A	p.G40E	Substitution - Missense	Skin
COSM290880	c.396_397GG>AA	p.V133M	Substitution - Missense	Large_intestine
COSM4984989	c.1460G>A	p.S487N	Substitution - Missense	Liver
COSM1359417	c.865delC	p.P291fs*51	Deletion - Frameshift	Stomach
COSM5687331	c.1185C>A	p.G395G	Substitution - coding silent	Soft_tissue
COSM4459814	c.1140C>T	p.V380V	Substitution - coding silent	Skin
COSM3931546	c.1375C>T	p.L459L	Substitution - coding silent	Liver
COSM3931546	c.1375C>T	p.L459L	Substitution - coding silent	Liver
COSM346337	c.138G>C	p.K46N	Substitution - Missense	Lung
COSM24920	c.814C>A	p.R272S	Substitution - Missense	Lung
COSM1359417	c.865delC	p.P291fs*51	Deletion - Frameshift	Biliary_tract
COSM21486	c.872delC	p.P291fs*51	Deletion - Frameshift	Large_intestine
COSM46423	c.798_799insAAC	p.N266_W267insN	Insertion - In frame	Liver
COSM5347299	c.1107+3_1109del127	p.?	Unknown	Liver
COSM1559373	c.1545G>A	p.T515T	Substitution - coding silent	Large_intestine
COSM21471	c.617G>T	p.W206L	Substitution - Missense	Liver
COSM21472	c.872_884del13	p.P291fs*47	Deletion - Frameshift	Liver
COSM1476242	c.378C>A	p.H126Q	Substitution - Missense	Breast
COSM935974	c.862delG	p.P291fs*51	Deletion - Frameshift	Large_intestine
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM3457108	c.1039C>T	p.P347S	Substitution - Missense	Skin
COSM21486	c.872delC	p.P291fs*51	Deletion - Frameshift	Large_intestine
COSM5019699	c.864G>C	p.G288G	Substitution - coding silent	Soft_tissue
COSM1605657	c.326+3A>G	p.?	Unknown	Liver
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM24913	c.526+1_526+13delGTAAGTAATGACC	p.?	Unknown	Liver
COSM24907	c.391C>T	p.R131W	Substitution - Missense	Liver
COSM4984989	c.1460G>A	p.S487N	Substitution - Missense	Liver
COSM3356290	c.348G>A	p.A116A	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM21484	c.495G>T	p.W165C	Substitution - Missense	Liver
COSM24933	c.815G>A	p.R272H	Substitution - Missense	Liver
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM5585431	c.1395C>T	p.S465S	Substitution - coding silent	Skin
COSM3722073	c.1251T>A	p.G417G	Substitution - coding silent	Upper_aerodigestive_tract
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM21479	c.18_36>T	p.Q7_L12delQLQTEL	Deletion - In frame	Liver
COSM21478	c.618G>T	p.W206C	Substitution - Missense	Liver
COSM24900	c.632A>C	p.Q211P	Substitution - Missense	Liver
COSM4984989	c.1460G>A	p.S487N	Substitution - Missense	Liver
COSM430522	c.79A>C	p.I27L	Substitution - Missense	Liver
COSM3703899	c.1234A>G	p.M412V	Substitution - Missense	Liver
COSM46432	c.608G>T	p.R203L	Substitution - Missense	Liver
COSM253005	c.1131delC	p.P379fs*5	Deletion - Frameshift	Ovary
COSM3457086	c.138G>A	p.K46K	Substitution - coding silent	Skin
COSM24920	c.814C>A	p.R272S	Substitution - Missense	Liver
COSM5988493	c.1392C>T	p.F464F	Substitution - coding silent	Liver
COSM24915	c.607C>T	p.R203C	Substitution - Missense	Liver
COSM1746803	c.422A>G	p.Q141R	Substitution - Missense	Urinary_tract
COSM4984989	c.1460G>A	p.S487N	Substitution - Missense	Soft_tissue
COSM430521	c.51C>G	p.L17L	Substitution - coding silent	Liver
COSM1299011	c.1332G>C	p.Q444H	Substitution - Missense	Urinary_tract
COSM217004	c.339_342delGCGT	p.R114fs*40	Deletion - Frameshift	Liver
COSM24924	c.1340C>T	p.P447L	Substitution - Missense	Liver
COSM4984989	c.1460G>A	p.S487N	Substitution - Missense	Soft_tissue
COSM430521	c.51C>G	p.L17L	Substitution - coding silent	Liver
COSM5019699	c.864G>C	p.G288G	Substitution - coding silent	Soft_tissue
COSM430521	c.51C>G	p.L17L	Substitution - coding silent	Liver
COSM3457087	c.147C>T	p.S49S	Substitution - coding silent	Skin
COSM21474	c.710A>G	p.N237S	Substitution - Missense	Liver
COSM21483	c.379A>T	p.N127Y	Substitution - Missense	Liver
COSM46430	c.56C>A	p.S19*	Substitution - Nonsense	Liver
COSM24908	c.829_837delTTCCGGCAC	p.F277_H279delFRH	Deletion - In frame	Liver
COSM2175496	c.1681C>T	p.Q561*	Substitution - Nonsense	Kidney
COSM24938	c.527-2A>G	p.?	Unknown	Liver
COSM4457690	c.1055C>T	p.S352F	Substitution - Missense	Skin
COSM5019699	c.864G>C	p.G288G	Substitution - coding silent	Soft_tissue
COSM3666557	c.811_812insCGG	p.R271>PG	Complex - insertion inframe	Liver
COSM430521	c.51C>G	p.L17L	Substitution - coding silent	Liver
COSM5988501	c.977C>T	p.A326V	Substitution - Missense	Liver
COSM24911	c.686G>A	p.R229Q	Substitution - Missense	Liver
COSM4984989	c.1460G>A	p.S487N	Substitution - Missense	Liver
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM46425	c.132_156del25	p.D45fs*102	Deletion - Frameshift	Liver
COSM5990191	c.99_105delGGGGCCC	p.G34fs*119	Deletion - Frameshift	Liver
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM5990159	c.857A>G	p.Y286C	Substitution - Missense	Liver
COSM1470609	c.1014C>T	p.G338G	Substitution - coding silent	Prostate
COSM5019699	c.864G>C	p.G288G	Substitution - coding silent	Soft_tissue
COSM1476243	c.863_864insC	p.P289fs*28	Insertion - Frameshift	Large_intestine
COSM33233	c.1721G>A	p.S574N	Substitution - Missense	Breast
COSM3457112	c.1599G>A	p.L533L	Substitution - coding silent	Skin
COSM1684349	c.864delG	p.P291fs*51	Deletion - Frameshift	Large_intestine
COSM5990199	c.614A>T	p.K205M	Substitution - Missense	Liver
COSM3457096	c.555G>A	p.L185L	Substitution - coding silent	Skin
COSM430522	c.79A>C	p.I27L	Substitution - Missense	Urinary_tract
COSM35861	c.60delG	p.L21fs*1	Deletion - Frameshift	Liver
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM3935777	c.1772C>A	p.S591Y	Substitution - Missense	Oesophagus
COSM1470609	c.1014C>T	p.G338G	Substitution - coding silent	Stomach
COSM5945632	c.917G>T	p.G306V	Substitution - Missense	Central_nervous_system
COSM24898	c.196G>T	p.E66*	Substitution - Nonsense	Liver
COSM2175490	c.1539C>A	p.T513T	Substitution - coding silent	Large_intestine
COSM46435	c.1441C>T	p.Q481*	Substitution - Nonsense	Liver
COSM253005	c.1131delC	p.P379fs*5	Deletion - Frameshift	Large_intestine
COSM24937	c.1108-2A>G	p.?	Unknown	Liver
COSM5990193	c.34_35insAG	p.L12fs*11	Insertion - Frameshift	Liver
COSM691761	c.306C>A	p.A102A	Substitution - coding silent	Lung
COSM46445	c.629C>T	p.S210F	Substitution - Missense	Liver
COSM27395	c.502C>T	p.R168C	Substitution - Missense	Endometrium
COSM935975	c.1501G>A	p.A501T	Substitution - Missense	Endometrium
COSM4039427	c.1335T>G	p.S445R	Substitution - Missense	Stomach
COSM24923	c.779C>T	p.T260M	Substitution - Missense	Liver
COSM46426	c.711T>G	p.N237K	Substitution - Missense	Liver
COSM1605660	c.1767A>G	p.T589T	Substitution - coding silent	Liver
COSM1559373	c.1545G>A	p.T515T	Substitution - coding silent	Central_nervous_system
COSM24911	c.686G>A	p.R229Q	Substitution - Missense	Breast
COSM21486	c.872delC	p.P291fs*51	Deletion - Frameshift	Large_intestine
COSM24904	c.653A>G	p.Y218C	Substitution - Missense	Liver
COSM935974	c.862delG	p.P291fs*51	Deletion - Frameshift	Endometrium
COSM430521	c.51C>G	p.L17L	Substitution - coding silent	Liver
COSM3870928	c.1019C>T	p.P340L	Substitution - Missense	Skin
COSM21474	c.710A>G	p.N237S	Substitution - Missense	Liver
COSM3457090	c.462G>A	p.M154I	Substitution - Missense	Skin
COSM4954995	c.724A>T	p.I242F	Substitution - Missense	Liver
COSM251347	c.340_343delCGTG	p.R114fs*40	Deletion - Frameshift	Liver
COSM3710701	c.1270C>A	p.P424T	Substitution - Missense	Upper_aerodigestive_tract
COSM24915	c.607C>T	p.R203C	Substitution - Missense	Liver
COSM46436	c.108C>A	p.Y36*	Substitution - Nonsense	Liver
COSM21486	c.872delC	p.P291fs*51	Deletion - Frameshift	Large_intestine
COSM21483	c.379A>T	p.N127Y	Substitution - Missense	Liver
COSM24928	c.1072_1073CC>NNNNNNNNNNN	p.P358>XXXX	Complex - insertion inframe	Liver
COSM5352412	c.712_713ins65	p.R238fs*126	Insertion - Frameshift	Liver
COSM3667104	c.426C>T	p.S142S	Substitution - coding silent	Liver
COSM336015	c.757G>T	p.G253W	Substitution - Missense	Lung
COSM21487	c.526+1G>A	p.?	Unknown	Liver
COSM4984989	c.1460G>A	p.S487N	Substitution - Missense	Liver
COSM5019699	c.864G>C	p.G288G	Substitution - coding silent	Soft_tissue
COSM3931546	c.1375C>T	p.L459L	Substitution - coding silent	Liver
COSM27399	c.1_173del173	p.?	Unknown	Endometrium
COSM430522	c.79A>C	p.I27L	Substitution - Missense	Prostate
COSM430521	c.51C>G	p.L17L	Substitution - coding silent	Liver
COSM1359417	c.865delC	p.P291fs*51	Deletion - Frameshift	Large_intestine
COSM46428	c.695_697delTAG	p.V233delV	Deletion - In frame	Liver
COSM253005	c.1131delC	p.P379fs*5	Deletion - Frameshift	Large_intestine
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM5990196	c.68_69insCTGATCCA	p.K23fs*2	Insertion - Frameshift	Liver
COSM3703902	c.1781G>T	p.S594I	Substitution - Missense	Liver
COSM935974	c.862delG	p.P291fs*51	Deletion - Frameshift	Large_intestine
COSM430522	c.79A>C	p.I27L	Substitution - Missense	Prostate
COSM46424	c.788G>T	p.R263L	Substitution - Missense	Liver
COSM21478	c.618G>T	p.W206C	Substitution - Missense	Liver
COSM430522	c.79A>C	p.I27L	Substitution - Missense	Soft_tissue
COSM311820	c.980C>T	p.T327I	Substitution - Missense	Lung
COSM691762	c.281C>A	p.P94H	Substitution - Missense	Lung
COSM21487	c.526+1G>A	p.?	Unknown	Liver
COSM27394	c.465G>T	p.K155N	Substitution - Missense	Endometrium
COSM3384093	c.854C>T	p.T285M	Substitution - Missense	Breast
COSM4526942	c.142G>A	p.E48K	Substitution - Missense	Skin
COSM4984989	c.1460G>A	p.S487N	Substitution - Missense	Soft_tissue
COSM5585431	c.1395C>T	p.S465S	Substitution - coding silent	Skin
COSM430523	c.360G>T	p.K120N	Substitution - Missense	Breast
COSM430522	c.79A>C	p.I27L	Substitution - Missense	Soft_tissue
COSM430522	c.79A>C	p.I27L	Substitution - Missense	Prostate
COSM3666559	c.812_813insCGG	p.R271_R272insG	Insertion - In frame	Liver
COSM5990194	c.476G>C	p.R159P	Substitution - Missense	Liver
COSM5352416	c.1309_1309+1ins300	p.G437_L438ins100	Insertion - In frame	Liver
COSM430522	c.79A>C	p.I27L	Substitution - Missense	Prostate
COSM1559374	c.1545G>C	p.T515T	Substitution - coding silent	Central_nervous_system
COSM4791692	c.590A>C	p.K197T	Substitution - Missense	Liver
COSM1605658	c.365A>G	p.Y122C	Substitution - Missense	Liver
COSM1359417	c.865delC	p.P291fs*51	Deletion - Frameshift	Large_intestine
COSM21477	c.817A>G	p.K273E	Substitution - Missense	Breast
COSM5374396	c.1841A>G	p.N614S	Substitution - Missense	Skin
COSM5613502	c.1378C>A	p.Q460K	Substitution - Missense	Lung
COSM302379	c.153C>A	p.G51G	Substitution - coding silent	Central_nervous_system
COSM4984989	c.1460G>A	p.S487N	Substitution - Missense	Liver
COSM4611384	c.864_865insC	p.G292fs*25	Insertion - Frameshift	Large_intestine
COSM5990833	c.326+6delG	p.?	Unknown	Liver
COSM5609089	c.912C>T	p.S304S	Substitution - coding silent	Skin
COSM4954995	c.724A>T	p.I242F	Substitution - Missense	Liver
COSM24911	c.686G>A	p.R229Q	Substitution - Missense	Liver
COSM3986693	c.1589T>C	p.L530P	Substitution - Missense	Kidney
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM24901	c.71_82del12	p.I27_L30delIQAL	Deletion - In frame	Liver
COSM4463843	c.1308C>T	p.I436I	Substitution - coding silent	Skin
COSM430522	c.79A>C	p.I27L	Substitution - Missense	Liver
COSM4984989	c.1460G>A	p.S487N	Substitution - Missense	Thymus
COSM211601	c.713+8_713+9insAGT	p.?	Unknown	Liver
COSM4527635	c.1479G>A	p.M493I	Substitution - Missense	Skin
COSM24938	c.527-2A>G	p.?	Unknown	Liver
COSM1285404	c.1011C>T	p.S337S	Substitution - coding silent	Autonomic_ganglia
COSM5990202	c.202_234del33	p.R68_G78del	Deletion - In frame	Liver
COSM46444	c.1274_1275delCG	p.T425fs*123	Deletion - Frameshift	Liver
COSM46435	c.1441C>T	p.Q481*	Substitution - Nonsense	Liver
COSM24929	c.788G>A	p.R263H	Substitution - Missense	Liver
COSM3457113	c.1738C>T	p.P580S	Substitution - Missense	Skin
COSM1476243	c.863_864insC	p.P289fs*28	Insertion - Frameshift	Breast
COSM5990199	c.614A>T	p.K205M	Substitution - Missense	Liver
COSM21486	c.872delC	p.P291fs*51	Deletion - Frameshift	Large_intestine
COSM5352420	c.1769-3_1769-2ins300	p.?	Unknown	Liver
COSM4575101	c.1727A>C	p.Q576P	Substitution - Missense	Bone
COSM21471	c.617G>T	p.W206L	Substitution - Missense	Liver
COSM21486	c.872delC	p.P291fs*51	Deletion - Frameshift	Liver
COSM5988493	c.1392C>T	p.F464F	Substitution - coding silent	Liver
COSM21471	c.617G>T	p.W206L	Substitution - Missense	Liver
COSM5988465	c.?	p.R278W	Substitution - Missense	Peritoneum
COSM24901	c.71_82del12	p.I27_L30delIQAL	Deletion - In frame	Liver
COSM21474	c.710A>G	p.N237S	Substitution - Missense	Liver
COSM5988502	c.838A>C	p.K280Q	Substitution - Missense	Liver
COSM24933	c.815G>A	p.R272H	Substitution - Missense	Liver
COSM24911	c.686G>A	p.R229Q	Substitution - Missense	Liver
COSM3457090	c.462G>A	p.M154I	Substitution - Missense	Skin
COSM1645454	c.1288G>T	p.G430C	Substitution - Missense	Large_intestine
COSM1559373	c.1545G>A	p.T515T	Substitution - coding silent	Central_nervous_system
COSM5988495	c.956_1127del172	p.G319fs*8	Deletion - Frameshift	Liver
COSM4611384	c.864_865insC	p.G292fs*25	Insertion - Frameshift	Pancreas
COSM21478	c.618G>T	p.W206C	Substitution - Missense	Liver
COSM21486	c.872delC	p.P291fs*51	Deletion - Frameshift	Liver
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM3457102	c.700G>A	p.E234K	Substitution - Missense	Skin
COSM1559373	c.1545G>A	p.T515T	Substitution - coding silent	Soft_tissue
COSM24912	c.1A>G	p.M1V	Substitution - Missense	Liver
COSM46437	c.570_577delAGGTGATG	p.G191fs*26	Deletion - Frameshift	Liver
COSM46446	c.1249_1250insT	p.G417fs*2	Insertion - Frameshift	Liver
COSM3457094	c.546G>A	p.Q182Q	Substitution - coding silent	Skin
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver
COSM1559373	c.1545G>A	p.T515T	Substitution - coding silent	Soft_tissue
COSM3666554	c.526_526+12delCGTAAGTAATGAC	p.?	Unknown	Liver
COSM21487	c.526+1G>A	p.?	Unknown	Liver
COSM4990210	c.1228G>A	p.G410R	Substitution - Missense	Skin
COSM21481	c.872_873insC	p.G292fs*25	Insertion - Frameshift	Liver

> Text Mining based Variations

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PMID	Variation	Cancer	Evidence
12730871	Mutation	Colorectal Carcinoma	To further characterize the prevalence of TCF1 mutations in the subgroup of MSI-H tumors, 52 additional MSI-H samples were screened for exon 4 alterations; 23% of MSI-H tumors (95% confidence interval, 14%-36%) were found to harbor frameshift at the poly-cytosin tract.

Summary
Symbol	HNF1A
Name	HNF1 homeobox A
Aliases	HNF1; LFB1; MODY3; TCF1; transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin prox ......
Location	12q24.31
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Post-translational modification (PTM)

> Post-translational modification (PTM)

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Filter By:

Uniprot ID	Position	Amino Acid	Description	Upstream Enzyme	Affected By Mutation	Amino Acid Sequence Variant
P20823	74	T	Phosphothreonine	-	No	None detected
P20823	93	S	Phosphoserine	-	No	None detected
P20823	247	S	Phosphoserine	-	No	None detected
P20823	313	S	Phosphoserine	-	No	None detected

Summary
Symbol	HNF1A
Name	HNF1 homeobox A
Aliases	HNF1; LFB1; MODY3; TCF1; transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin prox ......
Location	12q24.31
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	-0.558	-0.537	0.002	0.995	NS
BRCA	Breast invasive carcinoma	112	1100	-0.6	-0.181	0.399	2.32e-05	NS
CESC	Cervical and endocervical cancers	3	306	0.308	-0.135	NA	NA	NA
COAD	Colon adenocarcinoma	41	459	4.906	5.424	0.617	3.84e-07	Over
ESCA	Esophageal carcinoma	11	185	4.307	1.152	-0.371	0.75	NS
GBM	Glioblastoma multiforme	5	166	1.442	0.552	NA	NA	NA
HNSC	Head and Neck squamous cell carcinoma	44	522	-0.753	-0.487	0.424	0.0101	NS
KIRC	Kidney renal clear cell carcinoma	72	534	4.534	5.325	0.767	6.12e-06	Over
KIRP	Kidney renal papillary cell carcinoma	32	291	5.26	5.786	0.378	0.203	NS
LAML	Acute Myeloid Leukemia	0	173	NA	0.103	NA	NA	NA
LGG	Brain Lower Grade Glioma	0	530	NA	0.765	NA	NA	NA
LIHC	Liver hepatocellular carcinoma	50	373	5.211	5.517	0.218	0.134	NS
LUAD	Lung adenocarcinoma	59	517	-0.309	0.399	1.348	1.84e-06	Over
LUSC	Lung squamous cell carcinoma	51	501	-0.597	-0.372	0.312	0.0513	NS
OV	Ovarian serous cystadenocarcinoma	0	307	NA	-0.378	NA	NA	NA
PAAD	Pancreatic adenocarcinoma	4	179	2.75	3.814	NA	NA	NA
PCPG	Pheochromocytoma and Paraganglioma	3	184	-0.498	0.04	NA	NA	NA
PRAD	Prostate adenocarcinoma	52	498	-0.206	0.086	0.757	0.00121	Over
READ	Rectum adenocarcinoma	10	167	4.204	5.569	1.419	1.91e-08	Over
SARC	Sarcoma	2	263	3.37	-0.179	NA	NA	NA
SKCM	Skin Cutaneous Melanoma	1	472	-0.606	-0.077	NA	NA	NA
STAD	Stomach adenocarcinoma	35	415	3.543	5.008	1.992	6.43e-14	Over
TGCT	Testicular Germ Cell Tumors	0	156	NA	0.224	NA	NA	NA
THYM	Thymoma	2	120	-0.491	0.014	NA	NA	NA
UCEC	Uterine Corpus Endometrial Carcinoma	35	546	1.565	3.147	1.457	1.36e-05	Over

> Cancer Cell Line Encyclopedia (CCLE)

[ TOP ]

Tissue	Cell Line	Expression Level (Microarray)
Autonomic ganglia	CHP126	4.1
Autonomic ganglia	CHP212	4.1
Autonomic ganglia	IMR32	4.1
Autonomic ganglia	KELLY	4.1
Autonomic ganglia	KPNRTBM1	4.1
Autonomic ganglia	KPNSI9S	4.3
Autonomic ganglia	KPNYN	4.6
Autonomic ganglia	MHHNB11	4.6
Autonomic ganglia	NB1	4.4
Autonomic ganglia	NH6	4.1
Autonomic ganglia	SHSY5Y	3.9
Autonomic ganglia	SIMA	3.9
Autonomic ganglia	SKNAS	4.2
Autonomic ganglia	SKNBE2	4
Autonomic ganglia	SKNDZ	4.3
Autonomic ganglia	SKNFI	4.4
Autonomic ganglia	SKNSH	4.1
Biliary tract	HUCCT1	4.2
Biliary tract	HUH28	4.1
Biliary tract	SNU1079	4.8
Biliary tract	SNU1196	4.6
Biliary tract	SNU245	6.5
Biliary tract	SNU308	4.4
Biliary tract	SNU478	5.6
Bone	143B	4
Bone	A673	4.4
Bone	CADOES1	4.3
Bone	CAL78	4.1
Bone	G292CLONEA141B1	4.4
Bone	HOS	4.2
Bone	HS706T	4.6
Bone	HS737T	4.3
Bone	HS819T	4.2
Bone	HS821T	4.4
Bone	HS822T	4.3
Bone	HS863T	4.1
Bone	HS870T	3.9
Bone	HS888T	4
Bone	MG63	4.4
Bone	MHHES1	3.9
Bone	OUMS27	4.5
Bone	RDES	4.2
Bone	SJSA1	4.3
Bone	SKES1	4.2
Bone	SKNMC	4.3
Bone	SW1353	4.1
Bone	T173	4.2
Bone	TC71	4.6
Bone	U2OS	4.3
Breast	AU565	4.3
Breast	BT20	4.2
Breast	BT474	4.2
Breast	BT483	4
Breast	BT549	4.3
Breast	CAL120	4.1
Breast	CAL148	4.3
Breast	CAL51	4.5
Breast	CAL851	4.6
Breast	CAMA1	4.3
Breast	DU4475	4.7
Breast	EFM192A	4.2
Breast	EFM19	4.4
Breast	EVSAT	4.7
Breast	HCC1143	4.2
Breast	HCC1187	4
Breast	HCC1395	4
Breast	HCC1419	4.3
Breast	HCC1428	4.3
Breast	HCC1500	4.1
Breast	HCC1569	4.9
Breast	HCC1599	4.2
Breast	HCC1806	4.3
Breast	HCC1937	4.2
Breast	HCC1954	4.5
Breast	HCC202	4.3
Breast	HCC2157	4.3
Breast	HCC2218	4.7
Breast	HCC38	4.4
Breast	HCC70	4.1
Breast	HDQP1	4.2
Breast	HMC18	4.7
Breast	HS274T	4.3
Breast	HS281T	4.5
Breast	HS343T	4.1
Breast	HS578T	4.4
Breast	HS606T	4.3
Breast	HS739T	4.8
Breast	HS742T	4.2
Breast	JIMT1	4.3
Breast	KPL1	4.1
Breast	MCF7	4.4
Breast	MDAMB134VI	4.1
Breast	MDAMB157	4.3
Breast	MDAMB175VII	4.4
Breast	MDAMB231	4.6
Breast	MDAMB361	4.5
Breast	MDAMB415	4.7
Breast	MDAMB436	4.4
Breast	MDAMB453	4.2
Breast	MDAMB468	4.5
Breast	SKBR3	4.6
Breast	T47D	4
Breast	UACC812	4.1
Breast	UACC893	4.2
Breast	YMB1	4.7
Breast	ZR751	3.9
Breast	ZR7530	4.3
Central nervous system	1321N1	4.4
Central nervous system	42MGBA	4.4
Central nervous system	8MGBA	4.3
Central nervous system	A172	4.3
Central nervous system	AM38	4.2
Central nervous system	BECKER	4.2
Central nervous system	CAS1	4.1
Central nervous system	CCFSTTG1	4.6
Central nervous system	D283MED	4.1
Central nervous system	D341MED	4.5
Central nervous system	DAOY	4.5
Central nervous system	DBTRG05MG	4.3
Central nervous system	DKMG	4
Central nervous system	GAMG	4.3
Central nervous system	GB1	4.1
Central nervous system	GI1	4.5
Central nervous system	GMS10	4.1
Central nervous system	GOS3	4.5
Central nervous system	H4	4.4
Central nervous system	HS683	4.1
Central nervous system	KALS1	4.5
Central nervous system	KG1C	4.3
Central nervous system	KNS42	4.3
Central nervous system	KNS60	4.2
Central nervous system	KNS81	4.3
Central nervous system	KS1	4.2
Central nervous system	LN18	4.5
Central nervous system	LN229	3.8
Central nervous system	M059K	4.3
Central nervous system	MOGGCCM	4.2
Central nervous system	MOGGUVW	4.4
Central nervous system	NMCG1	3.9
Central nervous system	ONS76	4.3
Central nervous system	SF126	4.6
Central nervous system	SF295	3.8
Central nervous system	SNB19	4.3
Central nervous system	SNU1105	4.6
Central nervous system	SNU201	4.4
Central nervous system	SNU466	4.3
Central nervous system	SNU489	4
Central nervous system	SNU626	4.5
Central nervous system	SNU738	5
Central nervous system	SW1088	4.6
Central nervous system	SW1783	4.2
Central nervous system	T98G	4.5
Central nervous system	TM31	4
Central nervous system	U118MG	4.1
Central nervous system	U138MG	4.2
Central nervous system	U251MG	4
Central nervous system	U87MG	4.6
Central nervous system	YH13	4
Central nervous system	YKG1	3.8
Endometrium	AN3CA	4.2
Endometrium	COLO684	4.2
Endometrium	EFE184	4.7
Endometrium	EN	4.3
Endometrium	ESS1	3.9
Endometrium	HEC108	5.5
Endometrium	HEC151	4.6
Endometrium	HEC1A	4.5
Endometrium	HEC1B	4.8
Endometrium	HEC251	4.7
Endometrium	HEC265	4.5
Endometrium	HEC50B	4.6
Endometrium	HEC59	4.4
Endometrium	HEC6	4
Endometrium	ISHIKAWAHERAKLIO02ER	3.9
Endometrium	JHUEM1	3.9
Endometrium	JHUEM2	4.2
Endometrium	JHUEM3	4.1
Endometrium	KLE	4.3
Endometrium	MFE280	4.2
Endometrium	MFE296	4.4
Endometrium	MFE319	4.7
Endometrium	RL952	4.7
Endometrium	SNGM	4.4
Endometrium	SNU1077	4.1
Endometrium	SNU685	3.9
Endometrium	TEN	4.1
Haematopoietic and lymphoid	697	3.8
Haematopoietic and lymphoid	A3KAW	4.6
Haematopoietic and lymphoid	A4FUK	4.7
Haematopoietic and lymphoid	ALLSIL	4.5
Haematopoietic and lymphoid	AML193	4.4
Haematopoietic and lymphoid	AMO1	4.5
Haematopoietic and lymphoid	BCP1	4.6
Haematopoietic and lymphoid	BDCM	4.5
Haematopoietic and lymphoid	BL41	4.5
Haematopoietic and lymphoid	BL70	4.2
Haematopoietic and lymphoid	BV173	4.6
Haematopoietic and lymphoid	CA46	4.3
Haematopoietic and lymphoid	CI1	4.4
Haematopoietic and lymphoid	CMK115	4.3
Haematopoietic and lymphoid	CMK86	4.2
Haematopoietic and lymphoid	CMK	4.1
Haematopoietic and lymphoid	CMLT1	4.3
Haematopoietic and lymphoid	COLO775	4.4
Haematopoietic and lymphoid	DAUDI	4.2
Haematopoietic and lymphoid	DB	4.6
Haematopoietic and lymphoid	DEL	4.1
Haematopoietic and lymphoid	DND41	4.4
Haematopoietic and lymphoid	DOHH2	4.4
Haematopoietic and lymphoid	EB1	4.2
Haematopoietic and lymphoid	EB2	4.3
Haematopoietic and lymphoid	EHEB	4.1
Haematopoietic and lymphoid	EJM	3.9
Haematopoietic and lymphoid	EM2	4.3
Haematopoietic and lymphoid	EOL1	4.5
Haematopoietic and lymphoid	F36P	4
Haematopoietic and lymphoid	GA10	4.3
Haematopoietic and lymphoid	GDM1	4.4
Haematopoietic and lymphoid	GRANTA519	4.3
Haematopoietic and lymphoid	HDLM2	4.2
Haematopoietic and lymphoid	HDMYZ	3.9
Haematopoietic and lymphoid	HEL9217	3.9
Haematopoietic and lymphoid	HEL	4.2
Haematopoietic and lymphoid	HH	4.7
Haematopoietic and lymphoid	HL60	4.2
Haematopoietic and lymphoid	HPBALL	4.5
Haematopoietic and lymphoid	HS604T	4.5
Haematopoietic and lymphoid	HS611T	4.5
Haematopoietic and lymphoid	HS616T	4.3
Haematopoietic and lymphoid	HS751T	4.3
Haematopoietic and lymphoid	HT	4.4
Haematopoietic and lymphoid	HTK	4.3
Haematopoietic and lymphoid	HUNS1	4.8
Haematopoietic and lymphoid	HUT102	4.5
Haematopoietic and lymphoid	HUT78	4.5
Haematopoietic and lymphoid	JEKO1	4.5
Haematopoietic and lymphoid	JK1	4.4
Haematopoietic and lymphoid	JM1	4.3
Haematopoietic and lymphoid	JURKAT	3.9
Haematopoietic and lymphoid	JURLMK1	4.2
Haematopoietic and lymphoid	JVM2	4
Haematopoietic and lymphoid	JVM3	4.2
Haematopoietic and lymphoid	K562	5
Haematopoietic and lymphoid	KARPAS299	4.3
Haematopoietic and lymphoid	KARPAS422	4.6
Haematopoietic and lymphoid	KARPAS620	4.2
Haematopoietic and lymphoid	KASUMI1	4.2
Haematopoietic and lymphoid	KASUMI2	4.2
Haematopoietic and lymphoid	KASUMI6	3.9
Haematopoietic and lymphoid	KCL22	4.1
Haematopoietic and lymphoid	KE37	4.1
Haematopoietic and lymphoid	KE97	4.6
Haematopoietic and lymphoid	KG1	4.9
Haematopoietic and lymphoid	KHM1B	4.3
Haematopoietic and lymphoid	KIJK	4.2
Haematopoietic and lymphoid	KMH2	4.1
Haematopoietic and lymphoid	KMM1	4.6
Haematopoietic and lymphoid	KMS11	4.4
Haematopoietic and lymphoid	KMS12BM	4.1
Haematopoietic and lymphoid	KMS18	4.1
Haematopoietic and lymphoid	KMS20	4
Haematopoietic and lymphoid	KMS21BM	4.3
Haematopoietic and lymphoid	KMS26	4.4
Haematopoietic and lymphoid	KMS27	4.6
Haematopoietic and lymphoid	KMS28BM	4.2
Haematopoietic and lymphoid	KMS34	4.7
Haematopoietic and lymphoid	KO52	3.8
Haematopoietic and lymphoid	KOPN8	4.5
Haematopoietic and lymphoid	KU812	4.2
Haematopoietic and lymphoid	KYO1	4.8
Haematopoietic and lymphoid	L1236	4.2
Haematopoietic and lymphoid	L363	4.6
Haematopoietic and lymphoid	L428	4.4
Haematopoietic and lymphoid	L540	4.1
Haematopoietic and lymphoid	LAMA84	4.3
Haematopoietic and lymphoid	LOUCY	4.1
Haematopoietic and lymphoid	LP1	4.4
Haematopoietic and lymphoid	M07E	4.4
Haematopoietic and lymphoid	MC116	4.9
Haematopoietic and lymphoid	ME1	4.3
Haematopoietic and lymphoid	MEC1	4.2
Haematopoietic and lymphoid	MEC2	4.2
Haematopoietic and lymphoid	MEG01	4.2
Haematopoietic and lymphoid	MHHCALL2	4.2
Haematopoietic and lymphoid	MHHCALL3	4.2
Haematopoietic and lymphoid	MHHCALL4	3.9
Haematopoietic and lymphoid	MINO	4.3
Haematopoietic and lymphoid	MJ	4.2
Haematopoietic and lymphoid	MM1S	4.5
Haematopoietic and lymphoid	MOLM13	4.1
Haematopoietic and lymphoid	MOLM16	4
Haematopoietic and lymphoid	MOLM6	4.4
Haematopoietic and lymphoid	MOLP2	4.5
Haematopoietic and lymphoid	MOLP8	4.1
Haematopoietic and lymphoid	MOLT13	4.4
Haematopoietic and lymphoid	MOLT16	4.2
Haematopoietic and lymphoid	MOLT4	4.3
Haematopoietic and lymphoid	MONOMAC1	4.5
Haematopoietic and lymphoid	MONOMAC6	4.2
Haematopoietic and lymphoid	MOTN1	4.5
Haematopoietic and lymphoid	MUTZ5	4.2
Haematopoietic and lymphoid	MV411	4
Haematopoietic and lymphoid	NALM19	4.1
Haematopoietic and lymphoid	NALM1	4.7
Haematopoietic and lymphoid	NALM6	4.1
Haematopoietic and lymphoid	NAMALWA	4.3
Haematopoietic and lymphoid	NB4	4.5
Haematopoietic and lymphoid	NCIH929	4.2
Haematopoietic and lymphoid	NCO2	4.3
Haematopoietic and lymphoid	NOMO1	4.3
Haematopoietic and lymphoid	NUDHL1	4.5
Haematopoietic and lymphoid	NUDUL1	4.3
Haematopoietic and lymphoid	OCIAML2	4.1
Haematopoietic and lymphoid	OCIAML3	4.7
Haematopoietic and lymphoid	OCIAML5	4.6
Haematopoietic and lymphoid	OCILY10	4.9
Haematopoietic and lymphoid	OCILY19	4.5
Haematopoietic and lymphoid	OCILY3	4.4
Haematopoietic and lymphoid	OCIM1	4
Haematopoietic and lymphoid	OPM2	4.1
Haematopoietic and lymphoid	P12ICHIKAWA	4.3
Haematopoietic and lymphoid	P31FUJ	4.6
Haematopoietic and lymphoid	P3HR1	4.7
Haematopoietic and lymphoid	PCM6	4.4
Haematopoietic and lymphoid	PEER	4.3
Haematopoietic and lymphoid	PF382	4
Haematopoietic and lymphoid	PFEIFFER	4.3
Haematopoietic and lymphoid	PL21	4.2
Haematopoietic and lymphoid	RAJI	5
Haematopoietic and lymphoid	RCHACV	4.2
Haematopoietic and lymphoid	REC1	4.2
Haematopoietic and lymphoid	REH	4
Haematopoietic and lymphoid	RI1	4.7
Haematopoietic and lymphoid	RL	4.2
Haematopoietic and lymphoid	RPMI8226	4.6
Haematopoietic and lymphoid	RPMI8402	4.4
Haematopoietic and lymphoid	RS411	4.2
Haematopoietic and lymphoid	SEM	4.3
Haematopoietic and lymphoid	SET2	4.2
Haematopoietic and lymphoid	SIGM5	4.5
Haematopoietic and lymphoid	SKM1	4.2
Haematopoietic and lymphoid	SKMM2	4.4
Haematopoietic and lymphoid	SR786	4.2
Haematopoietic and lymphoid	ST486	4.3
Haematopoietic and lymphoid	SUDHL10	4.7
Haematopoietic and lymphoid	SUDHL1	4.3
Haematopoietic and lymphoid	SUDHL4	4.8
Haematopoietic and lymphoid	SUDHL5	4.6
Haematopoietic and lymphoid	SUDHL6	4.3
Haematopoietic and lymphoid	SUDHL8	4.8
Haematopoietic and lymphoid	SUPB15	4.7
Haematopoietic and lymphoid	SUPHD1	4.5
Haematopoietic and lymphoid	SUPM2	4.4
Haematopoietic and lymphoid	SUPT11	4.1
Haematopoietic and lymphoid	SUPT1	4.9
Haematopoietic and lymphoid	TALL1	4.3
Haematopoietic and lymphoid	TF1	4.5
Haematopoietic and lymphoid	THP1	4.5
Haematopoietic and lymphoid	TO175T	3.9
Haematopoietic and lymphoid	TOLEDO	4.3
Haematopoietic and lymphoid	U266B1	4.5
Haematopoietic and lymphoid	U937	4.4
Haematopoietic and lymphoid	UT7	4.2
Haematopoietic and lymphoid	WSUDLCL2	4.3
Kidney	769P	5.5
Kidney	786O	4.6
Kidney	A498	4.9
Kidney	A704	5
Kidney	ACHN	4.8
Kidney	BFTC909	4.1
Kidney	CAKI1	4.4
Kidney	CAKI2	4.7
Kidney	CAL54	5.1
Kidney	KMRC1	4
Kidney	KMRC20	4.4
Kidney	KMRC2	4.4
Kidney	KMRC3	3.8
Kidney	OSRC2	4.6
Kidney	RCC10RGB	4.1
Kidney	SNU1272	4.1
Kidney	SNU349	4.2
Kidney	TUHR10TKB	4
Kidney	TUHR14TKB	4.3
Kidney	TUHR4TKB	4.5
Kidney	VMRCRCW	5.6
Kidney	VMRCRCZ	4.4
Large intestine	C2BBE1	6.3
Large intestine	CCK81	5
Large intestine	CL11	4.1
Large intestine	CL14	6.5
Large intestine	CL34	5.4
Large intestine	CL40	5.8
Large intestine	COLO205	6.2
Large intestine	COLO320	4.1
Large intestine	COLO678	4.2
Large intestine	CW2	4.9
Large intestine	DLD1	4.3
Large intestine	GP2D	5.3
Large intestine	HCC56	5.9
Large intestine	HCT116	4.3
Large intestine	HCT15	4.3
Large intestine	HS675T	4.2
Large intestine	HS698T	4
Large intestine	HT115	6.7
Large intestine	HT29	5.6
Large intestine	HT55	6.3
Large intestine	KM12	5.9
Large intestine	LOVO	5.8
Large intestine	LS1034	5.8
Large intestine	LS123	4.3
Large intestine	LS180	5.5
Large intestine	LS411N	5
Large intestine	LS513	5.1
Large intestine	MDST8	4
Large intestine	NCIH508	6.4
Large intestine	NCIH716	6.7
Large intestine	NCIH747	4.4
Large intestine	OUMS23	4.3
Large intestine	RCM1	6.3
Large intestine	RKO	4.4
Large intestine	SKCO1	5.5
Large intestine	SNU1040	5.8
Large intestine	SNU1197	4
Large intestine	SNU175	5.8
Large intestine	SNU283	5.9
Large intestine	SNU407	4.8
Large intestine	SNU503	4.3
Large intestine	SNU61	5.8
Large intestine	SNU81	5.8
Large intestine	SNUC1	6.2
Large intestine	SNUC2A	4.5
Large intestine	SNUC4	5
Large intestine	SNUC5	4.1
Large intestine	SW1116	6.1
Large intestine	SW1417	5
Large intestine	SW1463	6.4
Large intestine	SW403	5.4
Large intestine	SW480	4.6
Large intestine	SW48	5.8
Large intestine	SW620	6
Large intestine	SW837	4.2
Large intestine	SW948	5.6
Large intestine	T84	6.1
Liver	ALEXANDERCELLS	5.2
Liver	C3A	6.4
Liver	HEP3B217	5.9
Liver	HEPG2	6.7
Liver	HLE	4.5
Liver	HLF	4.2
Liver	HUH1	6.3
Liver	HUH6	6.5
Liver	HUH7	6.1
Liver	JHH1	4.6
Liver	JHH2	4.6
Liver	JHH4	5.4
Liver	JHH5	6.6
Liver	JHH6	3.9
Liver	JHH7	6.7
Liver	LI7	6.3
Liver	PLCPRF5	5.5
Liver	SKHEP1	4
Liver	SNU182	4.1
Liver	SNU387	4.4
Liver	SNU398	4.1
Liver	SNU423	4.2
Liver	SNU449	4.6
Liver	SNU475	3.9
Liver	SNU761	5.3
Liver	SNU878	5.7
Liver	SNU886	5
Lung	A549	5.3
Lung	ABC1	4.1
Lung	BEN	5.6
Lung	CAL12T	4.4
Lung	CALU1	4.1
Lung	CALU3	4.5
Lung	CALU6	4.6
Lung	CHAGOK1	4.1
Lung	COLO668	5.7
Lung	COLO699	4.1
Lung	CORL105	4
Lung	CORL23	4.3
Lung	CORL24	3.8
Lung	CORL279	4
Lung	CORL311	4.3
Lung	CORL47	4.4
Lung	CORL51	3.9
Lung	CORL88	4
Lung	CORL95	4
Lung	CPCN	4
Lung	DMS114	4.2
Lung	DMS153	4.1
Lung	DMS273	4.1
Lung	DMS454	5.4
Lung	DMS53	6
Lung	DMS79	4
Lung	DV90	6.2
Lung	EBC1	4.3
Lung	EPLC272H	5.1
Lung	HARA	4.5
Lung	HCC1171	3.8
Lung	HCC1195	5.1
Lung	HCC15	4.4
Lung	HCC2279	4.1
Lung	HCC2935	4.2
Lung	HCC33	4
Lung	HCC366	3.9
Lung	HCC4006	3.9
Lung	HCC44	4.8
Lung	HCC78	4.2
Lung	HCC827	4
Lung	HCC95	4.4
Lung	HLC1	4.3
Lung	HLFA	3.9
Lung	HS229T	4.3
Lung	HS618T	4.3
Lung	IALM	3.9
Lung	KNS62	5.1
Lung	LC1F	4.4
Lung	LC1SQSF	4.2
Lung	LCLC103H	3.9
Lung	LCLC97TM1	3.9
Lung	LK2	4.5
Lung	LOUNH91	4.6
Lung	LU65	4.6
Lung	LU99	4.4
Lung	LUDLU1	4.1
Lung	LXF289	4.2
Lung	MORCPR	4.8
Lung	NCIH1048	4.2
Lung	NCIH1092	3.9
Lung	NCIH1105	4
Lung	NCIH1155	4.3
Lung	NCIH1184	4
Lung	NCIH1299	4.3
Lung	NCIH1339	4.4
Lung	NCIH1341	4.3
Lung	NCIH1355	4
Lung	NCIH1373	4.1
Lung	NCIH1385	4.2
Lung	NCIH1395	4.9
Lung	NCIH1435	5.4
Lung	NCIH1436	4
Lung	NCIH1437	4.4
Lung	NCIH146	4.4
Lung	NCIH1563	4.5
Lung	NCIH1568	4.4
Lung	NCIH1573	5.1
Lung	NCIH1581	4.2
Lung	NCIH1618	4.2
Lung	NCIH1623	4.5
Lung	NCIH1648	3.9
Lung	NCIH1650	4.3
Lung	NCIH1651	5.2
Lung	NCIH1666	4.2
Lung	NCIH1693	3.9
Lung	NCIH1694	4.2
Lung	NCIH1703	4.6
Lung	NCIH1734	4.2
Lung	NCIH1755	4.6
Lung	NCIH1781	4.1
Lung	NCIH1792	4.3
Lung	NCIH1793	4.4
Lung	NCIH1836	4.2
Lung	NCIH1838	4.3
Lung	NCIH1869	4.3
Lung	NCIH1876	4.1
Lung	NCIH1915	4.3
Lung	NCIH1930	4.2
Lung	NCIH1944	4.8
Lung	NCIH1963	4
Lung	NCIH196	4.2
Lung	NCIH1975	4.3
Lung	NCIH2009	4.1
Lung	NCIH2023	4.7
Lung	NCIH2029	4.6
Lung	NCIH2030	4.5
Lung	NCIH2066	5.9
Lung	NCIH2081	3.9
Lung	NCIH2085	5
Lung	NCIH2087	4.9
Lung	NCIH209	3.9
Lung	NCIH2106	4
Lung	NCIH2110	4.5
Lung	NCIH211	4.2
Lung	NCIH2122	4.4
Lung	NCIH2126	4.1
Lung	NCIH2141	4
Lung	NCIH2170	4.4
Lung	NCIH2171	4.2
Lung	NCIH2172	4.1
Lung	NCIH2196	3.8
Lung	NCIH2227	4
Lung	NCIH2228	4.4
Lung	NCIH226	4.6
Lung	NCIH2286	4.1
Lung	NCIH2291	4.3
Lung	NCIH2342	4.2
Lung	NCIH2347	4.5
Lung	NCIH23	4.6
Lung	NCIH2405	4.1
Lung	NCIH2444	4.3
Lung	NCIH292	4.1
Lung	NCIH322	4.3
Lung	NCIH3255	3.8
Lung	NCIH358	4.4
Lung	NCIH441	4.6
Lung	NCIH446	4.1
Lung	NCIH460	4.4
Lung	NCIH510	4.6
Lung	NCIH520	4.4
Lung	NCIH522	4.1
Lung	NCIH524	4.2
Lung	NCIH526	5.2
Lung	NCIH596	3.9
Lung	NCIH647	4.3
Lung	NCIH650	4.3
Lung	NCIH661	4.4
Lung	NCIH69	4.1
Lung	NCIH727	5.9
Lung	NCIH810	6
Lung	NCIH82	4.1
Lung	NCIH838	4.2
Lung	NCIH841	4.1
Lung	NCIH854	6.4
Lung	NCIH889	3.9
Lung	PC14	4.1
Lung	RERFLCAD1	4.1
Lung	RERFLCAD2	4.8
Lung	RERFLCAI	4.1
Lung	RERFLCKJ	4.1
Lung	RERFLCMS	4.3
Lung	RERFLCSQ1	4.3
Lung	SBC5	4.2
Lung	SCLC21H	4.1
Lung	SHP77	4.6
Lung	SKLU1	4.4
Lung	SKMES1	4.7
Lung	SQ1	4.3
Lung	SW1271	4.1
Lung	SW1573	4
Lung	SW900	4.2
Lung	VMRCLCD	5.9
Lung	VMRCLCP	4.1
Oesophagus	COLO680N	4.2
Oesophagus	ECGI10	4.1
Oesophagus	KYSE140	4.1
Oesophagus	KYSE150	4.1
Oesophagus	KYSE180	4.3
Oesophagus	KYSE270	4.2
Oesophagus	KYSE30	4.6
Oesophagus	KYSE410	4.1
Oesophagus	KYSE450	4.4
Oesophagus	KYSE510	4.1
Oesophagus	KYSE520	4.2
Oesophagus	KYSE70	4.2
Oesophagus	OE19	5.6
Oesophagus	OE33	4
Oesophagus	TE10	4.6
Oesophagus	TE11	4.3
Oesophagus	TE14	4.2
Oesophagus	TE15	4.2
Oesophagus	TE1	4.1
Oesophagus	TE4	3.7
Oesophagus	TE5	4
Oesophagus	TE6	4.1
Oesophagus	TE8	3.8
Oesophagus	TE9	4.3
Oesophagus	TT	4.2
Ovary	59M	4
Ovary	A2780	4.1
Ovary	CAOV3	4.5
Ovary	CAOV4	4.2
Ovary	COLO704	4
Ovary	COV318	4.8
Ovary	COV362	4.2
Ovary	COV434	4.3
Ovary	COV504	3.9
Ovary	COV644	4.1
Ovary	EFO21	4.7
Ovary	EFO27	4.5
Ovary	ES2	4.6
Ovary	FUOV1	4.5
Ovary	HEYA8	4.6
Ovary	HS571T	4.6
Ovary	IGROV1	4.6
Ovary	JHOC5	4.5
Ovary	JHOM1	3.8
Ovary	JHOM2B	5.5
Ovary	JHOS2	4.2
Ovary	JHOS4	4.5
Ovary	KURAMOCHI	4.2
Ovary	MCAS	4.2
Ovary	NIHOVCAR3	4
Ovary	OAW28	4
Ovary	OAW42	4.5
Ovary	OC314	4.3
Ovary	OC316	4.8
Ovary	ONCODG1	4.2
Ovary	OV56	4.1
Ovary	OV7	4.2
Ovary	OV90	6
Ovary	OVCAR4	4.1
Ovary	OVCAR8	4.4
Ovary	OVISE	4.4
Ovary	OVK18	4.3
Ovary	OVKATE	4.2
Ovary	OVMANA	4.7
Ovary	OVSAHO	4.9
Ovary	OVTOKO	5.2
Ovary	RMGI	4.9
Ovary	RMUGS	4.3
Ovary	SKOV3	4.3
Ovary	SNU119	4
Ovary	SNU840	4
Ovary	SNU8	4.2
Ovary	TOV112D	4.3
Ovary	TOV21G	4.6
Ovary	TYKNU	4.6
Pancreas	ASPC1	6.4
Pancreas	BXPC3	4.3
Pancreas	CAPAN1	5.2
Pancreas	CAPAN2	4.6
Pancreas	CFPAC1	4.8
Pancreas	DANG	4.1
Pancreas	HPAC	4
Pancreas	HPAFII	6.4
Pancreas	HS766T	4.4
Pancreas	HUPT3	4.3
Pancreas	HUPT4	4.2
Pancreas	KCIMOH1	4.4
Pancreas	KLM1	4.1
Pancreas	KP2	4.4
Pancreas	KP3	5.1
Pancreas	KP4	4.3
Pancreas	L33	4.4
Pancreas	MIAPACA2	4
Pancreas	PANC0203	4
Pancreas	PANC0213	3.9
Pancreas	PANC0327	4.1
Pancreas	PANC0403	4.4
Pancreas	PANC0504	4.2
Pancreas	PANC0813	4.3
Pancreas	PANC1005	4.6
Pancreas	PANC1	4.6
Pancreas	PATU8902	4.3
Pancreas	PATU8988S	6
Pancreas	PATU8988T	4.1
Pancreas	PK1	4.5
Pancreas	PK45H	4.7
Pancreas	PK59	4.4
Pancreas	PL45	4.1
Pancreas	PSN1	4.3
Pancreas	QGP1	4.2
Pancreas	SNU213	4.4
Pancreas	SNU324	4.1
Pancreas	SNU410	4.3
Pancreas	SU8686	3.9
Pancreas	SUIT2	4.6
Pancreas	SW1990	4.5
Pancreas	T3M4	4.7
Pancreas	TCCPAN2	6.7
Pancreas	YAPC	4.3
Pleura	ACCMESO1	4.2
Pleura	DM3	4.1
Pleura	ISTMES1	4.2
Pleura	ISTMES2	4.3
Pleura	JL1	4.4
Pleura	MPP89	4.2
Pleura	MSTO211H	4.4
Pleura	NCIH2052	4
Pleura	NCIH2452	4.6
Pleura	NCIH28	5
Prostate	22RV1	5.2
Prostate	DU145	4.2
Prostate	LNCAPCLONEFGC	4
Prostate	MDAPCA2B	4.3
Prostate	NCIH660	4.2
Prostate	PC3	4.5
Prostate	VCAP	4.8
Salivary gland	A253	4
Salivary gland	YD15	4.1
Skin	A101D	4.2
Skin	A2058	4.2
Skin	A375	4.2
Skin	C32	4.1
Skin	CHL1	4.3
Skin	CJM	4.1
Skin	COLO679	4
Skin	COLO741	4.2
Skin	COLO783	4.2
Skin	COLO792	4.5
Skin	COLO800	4.2
Skin	COLO818	4.7
Skin	COLO829	4.1
Skin	COLO849	4
Skin	G361	4.2
Skin	GRM	4
Skin	HMCB	4.2
Skin	HS294T	4.3
Skin	HS600T	3.9
Skin	HS688AT	4.4
Skin	HS695T	4.4
Skin	HS839T	3.9
Skin	HS852T	4
Skin	HS895T	4.2
Skin	HS934T	4
Skin	HS936T	4.2
Skin	HS939T	4.3
Skin	HS940T	4.4
Skin	HS944T	4.1
Skin	HT144	4.1
Skin	IGR1	4
Skin	IGR37	4.4
Skin	IGR39	4.4
Skin	IPC298	4.7
Skin	K029AX	4.2
Skin	LOXIMVI	4.4
Skin	MALME3M	4.3
Skin	MDAMB435S	3.9
Skin	MELHO	4.3
Skin	MELJUSO	4.2
Skin	MEWO	4.1
Skin	RPMI7951	4
Skin	RVH421	4.5
Skin	SH4	4.4
Skin	SKMEL1	4.3
Skin	SKMEL24	4.2
Skin	SKMEL28	3.9
Skin	SKMEL2	4
Skin	SKMEL30	4.2
Skin	SKMEL31	4.4
Skin	SKMEL3	4.4
Skin	SKMEL5	4.7
Skin	UACC257	4.1
Skin	UACC62	4
Skin	WM115	4.1
Skin	WM1799	4
Skin	WM2664	4.3
Skin	WM793	3.9
Skin	WM88	4.1
Skin	WM983B	4.4
Small intestine	HUTU80	4.2
Soft tissue	A204	4.3
Soft tissue	G401	4.1
Soft tissue	G402	4.2
Soft tissue	GCT	4.4
Soft tissue	HS729	4.1
Soft tissue	HT1080	4.9
Soft tissue	KYM1	4.5
Soft tissue	MESSA	4.2
Soft tissue	RD	4
Soft tissue	RH30	4.4
Soft tissue	RH41	4.1
Soft tissue	RKN	4.4
Soft tissue	S117	4.3
Soft tissue	SJRH30	4.5
Soft tissue	SKLMS1	4.1
Soft tissue	SKUT1	3.9
Soft tissue	TE125T	4
Soft tissue	TE159T	4.5
Soft tissue	TE441T	4.1
Soft tissue	TE617T	4.2
Stomach	2313287	5.7
Stomach	AGS	4.4
Stomach	AZ521	4.2
Stomach	ECC10	3.8
Stomach	ECC12	6.5
Stomach	FU97	5.2
Stomach	GCIY	4.8
Stomach	GSS	4.1
Stomach	GSU	7.1
Stomach	HGC27	4.4
Stomach	HS746T	4.1
Stomach	HUG1N	5.5
Stomach	IM95	5.6
Stomach	KATOIII	5.4
Stomach	KE39	5.6
Stomach	LMSU	4.2
Stomach	MKN1	4
Stomach	MKN45	5.2
Stomach	MKN74	4.1
Stomach	MKN7	4.4
Stomach	NCCSTCK140	4.1
Stomach	NCIN87	4.2
Stomach	NUGC2	4.5
Stomach	NUGC3	4.3
Stomach	NUGC4	5.6
Stomach	OCUM1	5.5
Stomach	RERFGC1B	4.9
Stomach	SH10TC	4
Stomach	SNU16	6
Stomach	SNU1	4.6
Stomach	SNU216	4.5
Stomach	SNU520	6.1
Stomach	SNU5	4.9
Stomach	SNU601	5.3
Stomach	SNU620	5.3
Stomach	SNU668	4.1
Stomach	SNU719	6.2
Stomach	TGBC11TKB	4.3
Thyroid	8305C	4.1
Thyroid	8505C	4.2
Thyroid	BCPAP	4
Thyroid	BHT101	6.1
Thyroid	CAL62	3.9
Thyroid	CGTHW1	4.5
Thyroid	FTC133	4.2
Thyroid	FTC238	4.2
Thyroid	ML1	4.2
Thyroid	SW579	4.4
Thyroid	TT2609C02	4.2
Thyroid	TT	3.9
Upper aerodigestive tract	BHY	4.1
Upper aerodigestive tract	BICR16	4.4
Upper aerodigestive tract	BICR18	5
Upper aerodigestive tract	BICR22	4.2
Upper aerodigestive tract	BICR31	4.2
Upper aerodigestive tract	BICR56	4.3
Upper aerodigestive tract	BICR6	4.2
Upper aerodigestive tract	CAL27	4.4
Upper aerodigestive tract	CAL33	4.1
Upper aerodigestive tract	DETROIT562	4.4
Upper aerodigestive tract	FADU	4.6
Upper aerodigestive tract	HS840T	4.3
Upper aerodigestive tract	HSC2	4.4
Upper aerodigestive tract	HSC3	4.4
Upper aerodigestive tract	HSC4	4.2
Upper aerodigestive tract	PECAPJ15	3.9
Upper aerodigestive tract	PECAPJ34CLONEC12	4.2
Upper aerodigestive tract	PECAPJ41CLONED2	4.7
Upper aerodigestive tract	PECAPJ49	4.4
Upper aerodigestive tract	SCC15	4.3
Upper aerodigestive tract	SCC25	4.3
Upper aerodigestive tract	SCC4	3.8
Upper aerodigestive tract	SCC9	3.9
Upper aerodigestive tract	SNU1076	4.2
Upper aerodigestive tract	SNU1214	4.3
Upper aerodigestive tract	SNU46	4.4
Upper aerodigestive tract	SNU899	4
Upper aerodigestive tract	YD10B	4.6
Upper aerodigestive tract	YD38	4.7
Upper aerodigestive tract	YD8	4.4
Urinary tract	5637	4.5
Urinary tract	639V	4.4
Urinary tract	647V	4.1
Urinary tract	BC3C	4.2
Urinary tract	BFTC905	4
Urinary tract	CAL29	4
Urinary tract	HS172T	4.2
Urinary tract	HT1197	4.5
Urinary tract	HT1376	4.4
Urinary tract	J82	4.7
Urinary tract	JMSU1	4.2
Urinary tract	KMBC2	4
Urinary tract	KU1919	4.1
Urinary tract	RT11284	3.8
Urinary tract	RT112	4.6
Urinary tract	RT4	4.2
Urinary tract	SCABER	4.5
Urinary tract	SW1710	4.1
Urinary tract	SW780	4.4
Urinary tract	T24	4.1
Urinary tract	TCCSUP	4
Urinary tract	UMUC1	4.5
Urinary tract	UMUC3	4.2
Urinary tract	VMCUB1	4.1

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Expression Level (TPM)
Adipose tissue	0
Adrenal gland	0
Appendix	0.7
Bone marrow	0
Breast	0
Cerebral cortex	0
Cervix, uterine	0.4
Colon	3.7
Duodenum	15.9
Endometrium	0.4
Epididymis	0
Esophagus	0.1
Fallopian tube	1.5
Gallbladder	1.3
Heart muscle	0
Kidney	10.1
Liver	5.8
Lung	0
Lymph node	0
Ovary	0
Pancreas	1.1
Parathyroid gland	0
Placenta	0
Prostate	0.1
Rectum	2
Salivary gland	0
Seminal vesicle	0
Skeletal muscle	0
Skin	0.3
Small intestine	16
Smooth muscle	0.2
Spleen	0
Stomach	3.9
Testis	0.2
Thyroid gland	0
Tonsil	0
Urinary bladder	0

> Text Mining based Expression

[ TOP ]

PMID	Expression	Cancer	Evidence
26472090	Underexpression	Gastric Carcinoma	The results from qRT-PCR showed that the expression of HNF1A-AS1 was not only downregulated in three GC cell lines (AGS, BGC-823, and MKN-45) relative to that in a normal gastric mucosal epithelial cell line (GES-1), but also decreased in GC tissues relative to that in paired adjacent non-neoplastic tissues (low expression, 94 of 161; low expression rate, 58.38%).
25863539	Overexpression	Lung Adenocarcinoma	Our results showed that HNF1A-AS1 was significantly up-regulated in lung adenocarcinoma tissues compared with corresponding non-tumor tissues, and its expression level was significantly correlated with TNM stage, tumor size, and lymph node metastasis.
25793983	Underexpression	Pancreatic Carcinoma	Immunohistochemistry revealed that the level of HNF1A expression was significantly lower in tumor tissues than in non-tumor tissues.
25608466	Overexpression	Oesophagal Squamous Cell Carcinoma	Furthermore, plasma levels of POU3F3, HNF1A-AS1 and SPRY4-IT1 were significantly higher in ESCC patients compared with normal controls.
23572277	Underexpression	Renal Cell Carcinoma	The TCF1 expression level was significantly weaker in normal tissue compared to tumor samples while LEF1 protein levels were significantly weaker in tumor tissue.
22453151	Overexpression	B-cell Chronic Lymphocytic Leukemia	In B-CLL patients, gene networks around MYC, HNF1A and HNF4A, YWHAG, NF-κB1 and SP1 are identified as up-regulated; CEBPA, YWHAG, SATB1 and RB1 -- as down-regulated.
27981551	Overexpression	Non-Small Cell Lung Cancer	The level of HNF1A-AS was higher in tumor tissues than that in normal tissues (p < 0.01). In addition, HNF1A-AS level was significantly associated with TNM stage (p = 0.002) and Lymph node metastasis (p = 0.005). Kaplan-Meier analysis indicated that a high level of HNF1A-AS expression predicted unfavorable overall survival (p < 0.001).

Summary
Symbol	HNF1A
Name	HNF1 homeobox A
Aliases	HNF1; LFB1; MODY3; TCF1; transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin prox ......
Location	12q24.31
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Somatic copy number alteration in primary tomur tissue

> The Cancer Genome Atlas (TCGA)

[ TOP ]

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

Cancer	Full Name	# Sample	R	P	% Loss	% Neutral	% Gain	Status
BLCA	Bladder urothelial carcinoma	404	0.256	1.77e-07	17.1	57.9	25	Neutral
BRCA	Breast invasive carcinoma	1075	0.28	7.01e-21	19.6	62.9	17.5	Neutral
CESC	Cervical and endocervical cancers	292	0.087	0.14	7.9	76	16.1	Neutral
COAD	Colon adenocarcinoma	449	0.155	0.000996	12.7	67.5	19.8	Neutral
ESCA	Esophageal carcinoma	183	0.018	0.813	24	54.6	21.3	Neutral
GBM	Glioblastoma multiforme	147	0.091	0.273	8.8	83	8.2	Neutral
HNSC	Head and Neck squamous cell carcinoma	514	0.245	1.96e-08	10.9	73.7	15.4	Neutral
KIRC	Kidney renal clear cell carcinoma	525	0.047	0.287	1.1	76	22.9	Neutral
KIRP	Kidney renal papillary cell carcinoma	288	0.337	4.56e-09	0	60.1	39.9	Gain
LAML	Acute Myeloid Leukemia	166	0.107	0.17	0.6	99.4	0	Neutral
LGG	Brain Lower Grade Glioma	513	0.294	1.06e-11	10.5	85.2	4.3	Neutral
LIHC	Liver hepatocellular carcinoma	364	0.213	4.09e-05	14.6	72.5	12.9	Neutral
LUAD	Lung adenocarcinoma	512	0.321	1.03e-13	24.4	51.6	24	Neutral
LUSC	Lung squamous cell carcinoma	498	0.299	9.36e-12	17.3	59.2	23.5	Neutral
OV	Ovarian serous cystadenocarcinoma	300	0.394	1.49e-12	30	38.7	31.3	Neutral
PAAD	Pancreatic adenocarcinoma	177	0.389	8.77e-08	22	68.4	9.6	Neutral
PCPG	Pheochromocytoma and Paraganglioma	162	0.228	0.00353	1.9	89.5	8.6	Neutral
PRAD	Prostate adenocarcinoma	491	0.243	5.05e-08	5.9	87.6	6.5	Neutral
READ	Rectum adenocarcinoma	164	0.18	0.0214	13.4	72	14.6	Neutral
SARC	Sarcoma	255	0.408	1.21e-11	24.7	55.3	20	Neutral
SKCM	Skin Cutaneous Melanoma	367	0.27	1.55e-07	22.9	67.6	9.5	Neutral
STAD	Stomach adenocarcinoma	413	0.164	0.000819	13.1	64.4	22.5	Neutral
TGCT	Testicular Germ Cell Tumors	150	0.219	0.007	1.3	42.7	56	Gain
THYM	Thymoma	119	0.349	9.82e-05	5.9	90.8	3.4	Neutral
UCEC	Uterine Corpus Endometrial Carcinoma	537	0.22	2.53e-07	12.5	77.3	10.2	Neutral

Summary
Symbol	HNF1A
Name	HNF1 homeobox A
Aliases	HNF1; LFB1; MODY3; TCF1; transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin prox ......
Location	12q24.31
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Methylation level in the promoter region of CR

> Methylation level in the promoter region of CR

[ TOP ]

Correlation between expression and methylation as well as differential methylation analysis.

Cancer	Full Name	R	P	# N	# T	Delta beta (T vs N)	P value (T vs N)	Status
BLCA	Bladder urothelial carcinoma	-0.051	0.29	17	408	0.078	0.135	NS/NA
BRCA	Breast invasive carcinoma	-0.376	0	83	785	-0.2	4.57e-58	NS/NA
CESC	Cervical and endocervical cancers	-0.363	6.56e-11	3	306	NA	NA	NS/NA
COAD	Colon adenocarcinoma	-0.518	0	19	297	-0.055	0.00774	NS/NA
ESCA	Esophageal carcinoma	-0.751	0	9	185	NA	NA	NS/NA
GBM	Glioblastoma multiforme	-0.308	0.0127	1	64	NA	NA	NS/NA
HNSC	Head and Neck squamous cell carcinoma	-0.047	0.278	20	522	0.045	0.0152	NS/NA
KIRC	Kidney renal clear cell carcinoma	-0.127	0.0186	24	319	0.034	0.0135	NS/NA
KIRP	Kidney renal papillary cell carcinoma	-0.248	1.59e-05	23	275	-0.066	3.05e-05	NS/NA
LAML	Acute Myeloid Leukemia	0.045	0.563	0	170	NA	NA	NS/NA
LGG	Brain Lower Grade Glioma	-0.041	0.344	0	530	NA	NA	NS/NA
LIHC	Liver hepatocellular carcinoma	-0.591	0	41	373	-0.075	4.05e-12	NS/NA
LUAD	Lung adenocarcinoma	-0.741	0	21	456	-0.024	0.268	NS/NA
LUSC	Lung squamous cell carcinoma	0.029	0.571	8	370	NA	NA	NS/NA
OV	Ovarian serous cystadenocarcinoma	-0.3	0.437	0	9	NA	NA	NS/NA
PAAD	Pancreatic adenocarcinoma	-0.652	0	4	179	NA	NA	NS/NA
PCPG	Pheochromocytoma and Paraganglioma	0.086	0.243	3	184	NA	NA	NS/NA
PRAD	Prostate adenocarcinoma	-0.6	0	35	498	0.08	5.96e-05	NS/NA
READ	Rectum adenocarcinoma	-0.403	3.41e-05	2	99	NA	NA	NS/NA
SARC	Sarcoma	-0.337	2.55e-08	0	263	NA	NA	NS/NA
SKCM	Skin Cutaneous Melanoma	-0.016	0.725	1	471	NA	NA	NS/NA
STAD	Stomach adenocarcinoma	-0.618	0	0	372	NA	NA	NS/NA
TGCT	Testicular Germ Cell Tumors	-0.351	8.11e-06	0	156	NA	NA	NS/NA
THYM	Thymoma	-0.177	0.0518	2	120	NA	NA	NS/NA
UCEC	Uterine Corpus Endometrial Carcinoma	-0.793	0	34	431	-0.193	1.28e-10	NS/NA

Summary
Symbol	HNF1A
Name	HNF1 homeobox A
Aliases	HNF1; LFB1; MODY3; TCF1; transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin prox ......
Location	12q24.31
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	0	Not detected
Appendix	2	Medium
Bone marrow	0	Not detected
Breast	0	Not detected
Bronchus	0	Not detected
Caudate	0	Not detected
Cerebellum	0	Not detected
Cerebral cortex	0	Not detected
Cervix, uterine	0	Not detected
Colon	1	Low
Duodenum	2	Medium
Endometrium	0	Not detected
Epididymis	0	Not detected
Esophagus	0	Not detected
Fallopian tube	0	Not detected
Gallbladder	1	Low
Heart muscle	0	Not detected
Hippocampus	0	Not detected
Kidney	3	High
Liver	1	Low
Lung	0	Not detected
Lymph node	0	Not detected
Nasopharynx	0	Not detected
Oral mucosa	0	Not detected
Ovary	0	Not detected
Pancreas	1	Low
Parathyroid gland	0	Not detected
Placenta	0	Not detected
Prostate	0	Not detected
Rectum	2	Medium
Salivary gland	0	Not detected
Seminal vesicle	0	Not detected
Skeletal muscle	0	Not detected
Skin	0	Not detected
Small intestine	3	High
Smooth muscle	0	Not detected
Soft tissue	0	Not detected
Spleen	0	Not detected
Stomach	2	Medium
Testis	0	Not detected
Thyroid gland	0	Not detected
Tonsil	0	Not detected
Urinary bladder	0	Not detected
Vagina	0	Not detected

Summary
Symbol	HNF1A
Name	HNF1 homeobox A
Aliases	HNF1; LFB1; MODY3; TCF1; transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin prox ......
Location	12q24.31
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	0.685	NS	24476821
BRCA	Breast invasive carcinoma	521	6.64e-10	Significant	23000897
COAD	Colon adenocarcinoma	149	6.52e-06	Significant	22810696
GBM	Glioblastoma multiforme	157	7.83e-05	Significant	26824661
HNSC	Head and Neck squamous cell carcinoma	279	0.0283	Significant	25631445
KIRP	Kidney renal papillary cell carcinoma	161	0.177	NS	26536169
LGG	Brain Lower Grade Glioma	513	8.67e-06	Significant	26824661
LUAD	Lung adenocarcinoma	230	7.24e-10	Significant	25079552
LUSC	Lung squamous cell carcinoma	178	4.14e-05	Significant	22960745
OV	Ovarian serous cystadenocarcinoma	287	3.16e-05	Significant	21720365
PRAD	Prostate adenocarcinoma	333	5.53e-14	Significant	26544944
READ	Rectum adenocarcinoma	67	0.16	NS	22810696
SKCM	Skin Cutaneous Melanoma	315	0.0576	NS	26091043
STAD	Stomach adenocarcinoma	277	9.76e-08	Significant	25079317
UCEC	Uterine Corpus Endometrial Carcinoma	232	1.45e-05	Significant	23636398

> Overall survival

[ TOP ]

Overall survival analysis based on expression.

Cancer	Full Name	# Patients	Hazard Ratio	P Value (Log Rank Test)	Association
BLCA	Bladder urothelial carcinoma	405	0.911	0.662	NS
BRCA	Breast invasive carcinoma	1079	1.055	0.812	NS
CESC	Cervical and endocervical cancers	291	0.786	0.487	NS
COAD	Colon adenocarcinoma	439	1.382	0.25	NS
ESCA	Esophageal carcinoma	184	1.151	0.668	NS
GBM	Glioblastoma multiforme	158	1.129	0.635	NS
HNSC	Head and Neck squamous cell carcinoma	518	0.794	0.228	NS
KIRC	Kidney renal clear cell carcinoma	531	0.583	0.00786	Longer
KIRP	Kidney renal papillary cell carcinoma	287	0.578	0.159	NS
LAML	Acute Myeloid Leukemia	149	1.347	0.299	NS
LGG	Brain Lower Grade Glioma	511	0.757	0.257	NS
LIHC	Liver hepatocellular carcinoma	365	1.07	0.804	NS
LUAD	Lung adenocarcinoma	502	1.47	0.0629	NS
LUSC	Lung squamous cell carcinoma	494	1.229	0.289	NS
OV	Ovarian serous cystadenocarcinoma	303	1.291	0.236	NS
PAAD	Pancreatic adenocarcinoma	177	0.595	0.0954	NS
PCPG	Pheochromocytoma and Paraganglioma	179	0	0.33	NS
PRAD	Prostate adenocarcinoma	497	5.293	0.0891	NS
READ	Rectum adenocarcinoma	159	1.013	0.98	NS
SARC	Sarcoma	259	1.152	0.64	NS
SKCM	Skin Cutaneous Melanoma	459	1.337	0.117	NS
STAD	Stomach adenocarcinoma	388	0.642	0.0516	NS
TGCT	Testicular Germ Cell Tumors	134	577026062.568	0.325	NS
THYM	Thymoma	119	1.13	0.903	NS
UCEC	Uterine Corpus Endometrial Carcinoma	543	0.415	0.00478	Longer

> Stage

[ TOP ]

Association between expresson and stage.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
BLCA	Bladder urothelial carcinoma	406	-0.158	0.0014	Lower
BRCA	Breast invasive carcinoma	1071	-0.019	0.542	NS
CESC	Cervical and endocervical cancers	167	0.159	0.0403	Higher
COAD	Colon adenocarcinoma	445	0.044	0.356	NS
ESCA	Esophageal carcinoma	162	0.041	0.603	NS
HNSC	Head and Neck squamous cell carcinoma	448	0.027	0.568	NS
KIRC	Kidney renal clear cell carcinoma	531	-0.017	0.699	NS
KIRP	Kidney renal papillary cell carcinoma	260	0.011	0.861	NS
LIHC	Liver hepatocellular carcinoma	347	-0.024	0.659	NS
LUAD	Lung adenocarcinoma	507	0.024	0.592	NS
LUSC	Lung squamous cell carcinoma	497	0.12	0.0075	Higher
OV	Ovarian serous cystadenocarcinoma	302	-0.121	0.0362	Lower
PAAD	Pancreatic adenocarcinoma	176	-0.122	0.107	NS
READ	Rectum adenocarcinoma	156	-0.126	0.117	NS
SKCM	Skin Cutaneous Melanoma	410	-0.052	0.298	NS
STAD	Stomach adenocarcinoma	392	-0.066	0.191	NS
TGCT	Testicular Germ Cell Tumors	81	0.245	0.0275	Higher
UCEC	Uterine Corpus Endometrial Carcinoma	501	-0.147	0.000936	Lower

> Grade

[ TOP ]

Association between expresson and grade.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
CESC	Cervical and endocervical cancers	272	-0.057	0.346	NS
HNSC	Head and Neck squamous cell carcinoma	498	0.135	0.00245	Higher
KIRC	Kidney renal clear cell carcinoma	525	-0.026	0.558	NS
LGG	Brain Lower Grade Glioma	514	-0.064	0.145	NS
LIHC	Liver hepatocellular carcinoma	366	-0.013	0.803	NS
OV	Ovarian serous cystadenocarcinoma	296	0.092	0.113	NS
PAAD	Pancreatic adenocarcinoma	176	-0.124	0.101	NS
STAD	Stomach adenocarcinoma	406	-0.173	0.00048	Lower
UCEC	Uterine Corpus Endometrial Carcinoma	534	-0.407	1.08e-22	Lower

Summary
Symbol	HNF1A
Name	HNF1 homeobox A
Aliases	HNF1; LFB1; MODY3; TCF1; transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin prox ......
Location	12q24.31
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	HNF1A
Name	HNF1 homeobox A
Aliases	HNF1; LFB1; MODY3; TCF1; transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin prox ......
Location	12q24.31
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

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DrugBank ID	Name	Type	All Targets
DB04419	Norleucine	Small Molecule Drug

Summary
Symbol	HNF1A
Name	HNF1 homeobox A
Aliases	HNF1; LFB1; MODY3; TCF1; transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin prox ......
Location	12q24.31
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

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PMID	Cancer	Hierarchy	Gene	Relation to CR	Evidence
25863539	Lung Adenocarcinoma	partner	AS1	Fusion	Our results showed that HNF1A-AS1 was significantly up-regulated in lung adenocarcinoma tissues compared with corresponding non-tumor tissues, and its expression level was significantly correlated with TNM stage, tumor size, and lymph node metastasis.