AiPD: Autoinhibited Protein Database

Q15910

Gene name	EZH2 (KMT6)
Protein name	Histone-lysine N-methyltransferase EZH2
Names	EC 2.1.1.356 , ENX-1 , Enhancer of zeste homolog 2 , Lysine N-methyltransferase 6
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2146
EC number	2.1.1.356: Methyltransferases
Protein Class	HISTONE-LYSINE N-METHYLTRANSFERASE E(Z) (PTHR45747)

Descriptions

The histone-lysine N-methyltransferase EZH2 (EZH2) is a catalytic subunit of the polycomb repressive complex 2 (PRC2) and is involved in histone methylation and transcriptional repression. Autoinhibition of EZH2 is achieved through the C-terminus folding back into the active site, effectively blocking substrate engagement. This conformational state is inactive, preventing enzymatic activity and ensuring EZH2 only functions when properly complexed, preventing aberrant methylation activity. The inhibited activity of EZH2 could be alleviated by interactions with its binding partners EED and SUZ12, which could induce a conformational change in EZH2

Autoinhibitory domains (AIDs)

Target domain	646-731 (Active sites of SET domain)
Relief mechanism	Partner binding, Ligand binding
Assay	Structural analysis, Mutagenesis experiment

AID

737-751 (Disordered C-terminus of SET domain)

Target domain

646-731 (Active sites of SET domain)

Relief mechanism

Partner binding (Interactions with EED or SUZ12), Ligand binding (Interactions with ligands)

Assay

Structural analysis, Mutagenesis experiment

Accessory elements

No accessory elements

References

Antonysamy S et al. (2013) "Structural context of disease-associated mutations and putative mechanism of autoinhibition revealed by X-ray crystallographic analysis of the EZH2-SET domain", PloS one, 8, e84147

Autoinhibited structure

Activated structure

29 structures for Q15910

Entry ID	Method	Resolution	Chain	Position	Source
4MI0	X-ray	200 A	A	520-746	PDB
4MI5	X-ray	200 A	A	521-746	PDB
5GSA	X-ray	249 A	C/D	40-68	PDB
5H14	X-ray	190 A	C/D	40-68	PDB
5H15	X-ray	227 A	C/D	40-68	PDB
5H17	X-ray	230 A	B	40-68	PDB
5H19	X-ray	190 A	B	40-68	PDB
5H24	X-ray	250 A	C/D	40-68	PDB
5H25	X-ray	288 A	C/D	40-68	PDB
5HYN	X-ray	295 A	A/F/K/Q	1-746	PDB
5IJ7	X-ray	262 A			PDB
5IJ8	X-ray	299 A			PDB
5LS6	X-ray	347 A			PDB
5U5T	X-ray	160 A	C/D	39-68	PDB
5U62	X-ray	190 A	C/D	39-68	PDB
5WG6	X-ray	390 A	A/C	2-746	PDB
5WUK	X-ray	203 A	B	41-68	PDB
6C23	EM	390 A	C/K	1-746	PDB
6C24	EM	350 A	C/K	1-746	PDB
6LO2	X-ray	221 A	C/D	40-68	PDB
6P5L	X-ray	330 A	D	489-496	PDB
6U4Y	X-ray	291 A			PDB
6WKR	EM	350 A	C	1-746	PDB
7AT8	EM	440 A	A	1-746	PDB
7QJG	X-ray	180 A	C/D	40-68	PDB
7QJU	X-ray	180 A	C/D	40-68	PDB
7QK4	X-ray	160 A	B	40-68	PDB
8FYH	EM	340 A	A/G	1-746	PDB
AF-Q15910-F1	Predicted				AlphaFoldDB

1036 variants for Q15910

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1359374351 RCV001218458	3	Q>H	Weaver syndrome [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs760133156 RCV001270773	15	W>L	Weaver syndrome [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
rs2129485374 RCV001939939	24	M>T	Weaver syndrome [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs2129485373 RCV001888305	25	R>Q	Weaver syndrome [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001969677 rs1196167328	33	R>K	Weaver syndrome [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV000818401 rs754403133	40	S>G	Weaver syndrome [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV002026477 rs972308238	47	Q>E	Weaver syndrome [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV000204286 rs775407864 CA339735	50	L>S	Weaver syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs199645805 RCV001088260 RCV000520518 CA4548196	55	I>M	Weaver syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001050174 rs141583753	78	R>C	Weaver syndrome [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1182369323 RCV001967091	84	S>L	Weaver syndrome [ClinVar]	Yes	ClinVar dbSNP gnomAD
RCV001991358 rs2129478065	95	V>I	Weaver syndrome [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001775264 rs2129477011	129	H>R	Weaver syndrome [ClinVar]	Yes	ClinVar Ensembl dbSNP
CA259762 RCV000023119 COSM133047 COSM3259694 rs193921148 VAR_067595	132	P>S	Variant assessed as Somatic; MODERATE impact. Weaver syndrome haematopoietic_and_lymphoid_tissue WVS; decreased histone methyltransferase activity [NCI-TCGA, ClinVar, Cosmic, UniProt]	Yes	ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
rs1808822115 RCV001201666 VAR_078320 RCV001268039	133	Y>C	Weaver syndrome WVS; decreased histone methyltransferase activity [ClinVar, UniProt]	Yes	ClinVar UniProt Ensembl dbSNP
VAR_078321	134	M>T	WVS [UniProt]	Yes	UniProt
rs1554499814 RCV000624607 CA369721749	136	D>H	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001316852 rs1808814702	148	E>K	Weaver syndrome [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs797044844 RCV000193211 CA347376	153	Y>C	Weaver syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2129476917 RCV001374952	153	Y>H	Neurodevelopmental disorder [ClinVar]	Yes	ClinVar Ensembl dbSNP
VAR_067596 rs193921146 RCV000023117	153	Y>missing	WVS; decreased histone methyltransferase activity Weaver syndrome [UniProt, ClinVar]	Yes	ClinVar UniProt dbSNP
VAR_067596 rs193921146	153	Y>del	WVS; decreased histone methyltransferase activity [UniProt]	Yes	UniProt dbSNP
VAR_078322	156	K>E	WVS [UniProt]	Yes	UniProt
RCV001706770 rs2129476891	158	H>Y	Weaver syndrome [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001352156 rs746465165	182	N>S	Weaver syndrome [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
COSM3762469 RCV000120897 RCV001520862 CA159195 VAR_055795 rs2302427	185	D>H	thyroid large_intestine Weaver syndrome decreased histone methyltransferase activity [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001914977 rs1346782884	186	D>G	Weaver syndrome [ClinVar]	Yes	ClinVar dbSNP gnomAD
rs1322202663 RCV001325063	187	D>N	Weaver syndrome [ClinVar]	Yes	ClinVar dbSNP gnomAD
RCV000810542 rs1585021829	188	D>N	Weaver syndrome [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV002515865 RCV000120896 CA159192 rs587778303	189	D>missing	Weaver syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP
CA4548105 rs766699965 RCV000535181	189	D>missing	Weaver syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP
RCV002012397 rs1808481008	190	G>R	Weaver syndrome [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
COSM53008 RCV001216815 rs778968366	192	D>N	Weaver syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	cosmic curated ClinVar ExAC dbSNP gnomAD
RCV000478519 CA16618394 rs1051056437 RCV000799198	196	R>T	Weaver syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs192731117 RCV001931449	202	D>N	Weaver syndrome [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs61753264 RCV000795414	208	D>G	Weaver syndrome [ClinVar]	Yes	ClinVar ESP ExAC dbSNP gnomAD
rs1807983236 RCV001901838	209	D>V	Weaver syndrome [ClinVar]	Yes	ClinVar TOPMed dbSNP
RCV001915049 rs112029831	213	R>C	Weaver syndrome [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA4548058 COSM266482 rs377467108 RCV000807016 COSM266483 RCV000520964	213	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine Weaver syndrome [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001203904 rs771139896	216	R>W	Weaver syndrome [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs779951996 RCV001294009	230	M>V	Weaver syndrome [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001947843 rs2129475548	252	L>F	Weaver syndrome [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs1807775523 RCV001252996	259	E>Q	Weaver syndrome [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001365436 rs2129475506	271	S>P	Weaver syndrome [ClinVar]	Yes	ClinVar Ensembl dbSNP
VAR_078323	279	H>R	WVS [UniProt]	Yes	UniProt
rs1805459613 RCV002038615	314	A>V	Weaver syndrome [ClinVar]	Yes	ClinVar TOPMed dbSNP
CA369718295 RCV000560349 rs6954744	315	L>V	Weaver syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000120899 RCV000634025 COSM53031 CA159201 rs151023145	317	N>S	Weaver syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1309469934 RCV001214446	339	T>A	Weaver syndrome [ClinVar]	Yes	ClinVar dbSNP gnomAD
rs2129471812 RCV001992823	343	I>M	Weaver syndrome [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV000701231 rs781431240	358	L>F	Weaver syndrome [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
rs757601923 RCV001930936	359	P>L	Weaver syndrome [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV003146243 rs1285260202 RCV001814924	360	N>S	Weaver syndrome [ClinVar]	Yes	ClinVar dbSNP gnomAD
rs1805036322 RCV001314257	377	D>N	Weaver syndrome [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs1375591963 RCV001889171	386	T>I	Weaver syndrome [ClinVar]	Yes	ClinVar dbSNP gnomAD
rs1200905474 RCV000634024 CA369716183	388	T>M	Weaver syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001966749 rs2129471668	393	N>K	Weaver syndrome [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001240391 rs756400659	395	K>missing	Weaver syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001759391 RCV000699612 rs780357774	395	K>missing	Weaver syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1805019052 RCV001885464	396	E>Q	Weaver syndrome [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001226218 rs1805013708	399	E>missing	Weaver syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001761538 RCV003238428 rs775039041	399	E>missing	Weaver syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV002018158 rs770327434	424	I>N	Weaver syndrome [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001068427 rs1425631167	439	M>V	Weaver syndrome [ClinVar]	Yes	ClinVar TOPMed dbSNP
RCV000707013 rs1190049532	468	E>D	Weaver syndrome [ClinVar]	Yes	ClinVar TOPMed dbSNP
RCV001349238 rs1336390351 RCV003263991	470	R>T	Weaver syndrome Inborn genetic diseases [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs201135441 CA159189 RCV000383637 RCV000120895	482	A>T	Weaver syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs770006533 RCV000461681 CA4547878	487	T>S	Weaver syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1804313910 RCV001310011	506	I>M	Weaver syndrome [ClinVar]	Yes	ClinVar Ensembl dbSNP
CA4547834 RCV000269385 RCV002524526 rs747009766	514	S>P	Weaver syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs2129470135 RCV001420549	522	P>T	Weaver syndrome [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV002027821 rs1804158896	533	S>*	Weaver syndrome [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV000820792 rs1164610428	556	R>L	Weaver syndrome [ClinVar]	Yes	ClinVar TOPMed dbSNP
rs1554486440 CA369713597 RCV000529234	561	R>S	Weaver syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001034307 rs139878257	591	A>T	Weaver syndrome [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA271506 COSM3942110 RCV000145972 rs587783625 RCV001249312 COSM1000723 VAR_078325	621	V>M	Variant assessed as Somatic; MODERATE impact. oesophagus EZH2-related disorder Weaver syndrome haematopoietic_and_lymphoid_tissue WVS; uncertain significance [NCI-TCGA, Cosmic, ClinVar, UniProt]	Yes	ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
CA16602850 rs1057519894 RCV000429761 RCV000436936	636	E>A	Non-Hodgkin lymphoma Malignant melanoma of skin [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000419957 rs1057519894 CA16602849 COSM1272063 RCV000437178	636	E>V	Non-Hodgkin lymphoma haematopoietic_and_lymphoid_tissue Malignant melanoma of skin [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM37028 VAR_067229 RCV000430342 rs267601394 CA16602259 RCV000440575 RCV000422926 COSM220731	641	Y>F	Non-Hodgkin lymphoma Variant assessed as Somatic; MODERATE impact. skin haematopoietic_and_lymphoid_tissue Lymphoma Malignant melanoma of skin found in a patient with follicular lymphoma; also in diffuse large B-cell lymphoma; somatic mutation; changed substrate preferences; prefers substrates with greater methylation H3K27me0<me1<me2 [ClinVar, NCI-TCGA, Cosmic, UniProt]	Yes	ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000429291 COSM220732 VAR_067230 RCV000436489 RCV000418998 COSM37030 CA16602260 rs267601395	641	Y>H	Non-Hodgkin lymphoma haematopoietic_and_lymphoid_tissue Lymphoma Malignant melanoma of skin found in patients with follicular lymphoma; also in diffuse large B-cell lymphoma; somatic mutation; changed substrate preferences; prefers substrates with greater methylation H3K27me0<me1<me2 [ClinVar, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
COSM139744 RCV000429270 RCV000439496 VAR_067231 RCV000421839 CA16602670 COSM37031 rs267601395	641	Y>N	Non-Hodgkin lymphoma Variant assessed as Somatic; MODERATE impact. skin parathyroid haematopoietic_and_lymphoid_tissue Lymphoma Malignant melanoma of skin found in patients with follicular lymphoma; also in diffuse large B-cell lymphoma; somatic mutation; changed substrate preferences; prefers substrates with greater methylation H3K27me0<me1<me2 [ClinVar, NCI-TCGA, Cosmic, UniProt]	Yes	ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000423969 RCV000441670 rs267601394 COSM37029 CA16602671 VAR_067232 COSM220730 RCV000433156	641	Y>S	Non-Hodgkin lymphoma Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue Lymphoma Malignant melanoma of skin found in patients with follicular lymphoma; also in diffuse large B-cell lymphoma; somatic mutation [ClinVar, NCI-TCGA, Cosmic, UniProt]	Yes	ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
VAR_078326	658	Y>N	WVS [UniProt]	Yes	UniProt
COSM1448978 CA16612185 RCV000477287 COSM1448977 rs1060503430	659	D>Y	large_intestine Weaver syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM3413974 rs1584875099 RCV000805355 COSM3413975	662	M>T	Variant assessed as Somatic; MODERATE impact. Weaver syndrome [NCI-TCGA, ClinVar]	Yes	NCI-TCGA Cosmic ClinVar Ensembl dbSNP
RCV001761360 RCV002540444 rs2129468233	664	S>N	Weaver syndrome [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs2129468225 RCV001878311	668	N>*	Weaver syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000434252 CA16602672 COSM220386 rs1057519833 VAR_078327	677	A>G	haematopoietic_and_lymphoid_tissue Lymphoma found in a patient with B-cell lymphoma; increased hypertrimethylation of H3K27; changed substrate preferences; confers biochemical activity independent of H3K27 methylation state [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
CA345005 rs397515547 VAR_078328 RCV000055900	677	A>T	Weaver syndrome WVS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1802412684 RCV001222648	678	T>N	Weaver syndrome [ClinVar]	Yes	ClinVar Ensembl dbSNP
COSM53005 VAR_078329 RCV000145975 CA271512 rs587783626 RCV001564091	679	R>C	Variant assessed as Somatic; MODERATE impact. Weaver syndrome haematopoietic_and_lymphoid_tissue WVS; decreased histone methyltransferase activity [NCI-TCGA, ClinVar, Cosmic, UniProt]	Yes	ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
COSM53009 rs2129467665 RCV001872651 COSM1234980	688	N>K	Variant assessed as Somatic; MODERATE impact. Weaver syndrome haematopoietic_and_lymphoid_tissue [NCI-TCGA, ClinVar, Cosmic]	Yes	NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP
rs193921147 COSM53040 COSM1448972 CA259759 VAR_067597 RCV000023118	689	H>Y	large_intestine Weaver syndrome haematopoietic_and_lymphoid_tissue WVS; decreased histone methyltransferase activity [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
RCV002007265 COSM4384246 VAR_078331 rs2129467664 COSM4384247	690	S>L	Variant assessed as Somatic; MODERATE impact. Weaver syndrome WVS [NCI-TCGA, ClinVar, UniProt]	Yes	NCI-TCGA Cosmic ClinVar Ensembl dbSNP UniProt
RCV000793571 rs1584862929	706	H>L	Weaver syndrome [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs1584862620 RCV000803814	724	F>L	Weaver syndrome [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs2129467486 RCV002273099	724	F>L	Weaver syndrome [ClinVar]	Yes	ClinVar Ensembl dbSNP
CA277020 RCV000192778 RCV001778781 rs797045568 COSM3259622 COSM52999	725	D>*	Weaver syndrome Variant assessed as Somatic; HIGH impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar dbSNP NCI-TCGA Cosmic NCI-TCGA
rs776312600 RCV002274861 COSM53010	728	Y>*	Weaver syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	cosmic curated ClinVar dbSNP gnomAD
VAR_078333	728	Y>del	WVS [UniProt]	Yes	UniProt
rs2129465354 RCV002274862	733	A>missing	Weaver syndrome [ClinVar]	Yes	ClinVar dbSNP
CA16616758 rs1131692184 RCV000495948	733	A>D	Weaver syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000699921 rs1563181659	735	K>missing	Weaver syndrome [ClinVar]	Yes	ClinVar dbSNP
VAR_078334	736	Y>C	WVS [UniProt]	Yes	UniProt
rs1563181538 RCV001253148	740	E>D	Weaver syndrome [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs1584844048 RCV000788111	740	E>G	Weaver syndrome [ClinVar]	Yes	ClinVar Ensembl dbSNP
CA345008 rs397515548 RCV003415825 COSM1087034 COSM1087033 VAR_078335 RCV000055901	740	E>K	Variant assessed as Somatic; MODERATE impact. EZH2-related condition endometrium Weaver syndrome WVS; uncertain significance [NCI-TCGA, ClinVar, Cosmic, UniProt]	Yes	ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
CA271515 rs587783627 RCV000145978	741	R>G	Weaver syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs779629814 RCV001903705	745	I>M	Weaver syndrome [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs1814403036	2	G>S		No	TOPMed
rs1035066688	3	Q>L		No	TOPMed gnomAD
rs2129485401	5	G>E		No	Ensembl
COSM485016 COSM485017	6	K>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1814399091	8	S>C		No	gnomAD
rs1454209655	8	S>P		No	TOPMed gnomAD
rs1488148920	9	E>V		No	gnomAD
rs764649740	10	K>N		No	ExAC gnomAD
rs1814397136	10	K>R		No	Ensembl
rs756498768	11	G>*		No	Ensembl
rs1400051032	11	G>E		No	gnomAD
rs2129485393	12	P>S		No	Ensembl
rs2129485390 RCV001768799	13	V>A		No	ClinVar Ensembl dbSNP
TCGA novel rs760133156	15	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ExAC gnomAD NCI-TCGA
rs1814390527	16	R>Q		No	TOPMed
rs1814391391	16	R>W		No	gnomAD
rs776984937	17	K>Q		No	ExAC gnomAD
rs1814388253	17	K>R		No	TOPMed
rs771352080 COSM3879129 COSM3879128	18	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs2129485381	18	R>H		No	Ensembl
rs2129485380	21	S>*		No	Ensembl
rs2129485375	22	E>D		No	Ensembl
rs1814386298	22	E>Q		No	Ensembl
COSM53003 RCV001767555 rs1169410711	25	R>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated ClinVar dbSNP gnomAD
TCGA novel	28	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1196167328	33	R>T		No	TOPMed gnomAD
COSM6176701 COSM6176702	34	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
RCV002275774 rs2129485367	34	R>Q		No	ClinVar Ensembl dbSNP
rs1291033053	37	E>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs1291033053	37	E>G		No	TOPMed
rs2129485365	37	E>K		No	Ensembl
rs2129485361	38	V>I		No	Ensembl
TCGA novel COSM1449043 COSM1449044 rs2129485066	40	S>I	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated NCI-TCGA Ensembl
rs2129485066	40	S>N		No	Ensembl
rs2129485064	40	S>R		No	Ensembl
rs2129485066	40	S>T		No	Ensembl
rs2129485059	41	M>I		No	Ensembl
rs766928732	41	M>L		No	ExAC gnomAD
rs1814099756	41	M>T		No	TOPMed
rs766928732	41	M>V		No	ExAC gnomAD
RCV001752849 rs2129485055	42	F>C		No	ClinVar Ensembl dbSNP
rs2129485057	42	F>I		No	Ensembl
rs2129485055	42	F>S		No	Ensembl
rs2129485052	43	S>C		No	Ensembl
COSM3879127 rs2129485050 COSM3879126	43	S>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2129485050	43	S>N		No	Ensembl
rs2129485050	43	S>T		No	Ensembl
rs761247972	44	S>C		No	ExAC TOPMed gnomAD
rs761247972	44	S>F		No	ExAC TOPMed gnomAD
rs2129485044	44	S>P		No	Ensembl
rs2129485044	44	S>T		No	Ensembl
rs761247972	44	S>Y		No	ExAC TOPMed gnomAD
rs1260470042	45	N>I		No	TOPMed gnomAD
rs2129485036	45	N>K		No	Ensembl
rs1260470042	45	N>S		No	TOPMed gnomAD
rs1199671048	46	R>C		No	TOPMed gnomAD
rs1199671048	46	R>G		No	TOPMed gnomAD
rs1333628386	46	R>H		No	TOPMed gnomAD
rs1333628386	46	R>L		No	TOPMed gnomAD
rs1333628386	46	R>P		No	TOPMed gnomAD
rs972308238	47	Q>*		No	TOPMed gnomAD
rs2129485027	47	Q>H		No	Ensembl
rs972308238	47	Q>K		No	TOPMed gnomAD
rs2129485030	47	Q>R		No	Ensembl
rs773776228	48	K>N		No	ExAC gnomAD
rs2129485025	49	I>F		No	Ensembl
rs2129485024	49	I>N		No	Ensembl
rs2129485024	49	I>S		No	Ensembl
rs775407864	50	L>*		No	ExAC TOPMed gnomAD
rs2129485019	50	L>F		No	Ensembl
rs772530358	50	L>V		No	ExAC TOPMed gnomAD
rs1402189141	51	E>D		No	TOPMed gnomAD
rs1814091892	51	E>G		No	TOPMed
rs1389657572	51	E>K		No	gnomAD
rs752284693	52	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs2129485018	53	T>A		No	Ensembl
RCV000523469 CA369708274 rs768812143	53	T>M		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs768812143	53	T>R		No	ExAC gnomAD
rs2129485018	53	T>S		No	Ensembl
rs2129485016	54	E>*		No	Ensembl
rs1814086836	54	E>A		No	Ensembl
rs2129485016	54	E>K		No	Ensembl
rs2129485016	54	E>Q		No	Ensembl
rs2129485012	55	I>N		No	Ensembl
rs1369190067	55	I>V		No	TOPMed gnomAD
rs2129485006	56	L>*		No	Ensembl
rs200827197	56	L>I		No	1000Genomes ExAC TOPMed gnomAD
rs2129485004	57	N>D		No	Ensembl
rs2129485001	57	N>K		No	Ensembl
rs2129485000	58	Q>L		No	Ensembl
rs2129484994	59	E>*		No	Ensembl
rs2129484994	59	E>K		No	Ensembl
rs2129484994	59	E>Q		No	Ensembl
COSM133048 rs2129484989	60	W>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
rs2129484989	60	W>L		No	Ensembl
rs746946161	60	W>R		No	ExAC TOPMed gnomAD
rs2129484988	61	K>E		No	Ensembl
COSM53036 rs2129484985 COSM1449040	62	Q>*	large_intestine haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
rs2129484985	62	Q>E		No	Ensembl
rs1468342429	62	Q>H		No	gnomAD
COSM133046 rs2129484980	63	R>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
rs2129484980	63	R>G		No	Ensembl
rs2129484978	63	R>L		No	Ensembl
rs2129484978	63	R>P		No	Ensembl
rs2129484978	63	R>Q		No	Ensembl
rs2129484976	64	R>K		No	Ensembl
COSM6109192 COSM6109191 COSM600046 rs2129484976 COSM600047	64	R>M	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic Ensembl
rs777586454	64	R>S		No	ExAC gnomAD
rs2129484974	65	I>K		No	Ensembl
rs2129484966	66	Q>*		No	Ensembl
rs2129484966	66	Q>E		No	Ensembl
rs2129484962	66	Q>H		No	Ensembl
rs2129484966	66	Q>K		No	Ensembl
rs1814079541	67	P>A		No	Ensembl
TCGA novel	67	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1814079541	67	P>S		No	Ensembl
rs2129484954	68	V>E		No	Ensembl
rs2129484958	68	V>L		No	Ensembl
rs2129484958	68	V>M		No	Ensembl
rs1022373846	69	H>D		No	gnomAD
rs1475241273	69	H>L		No	TOPMed gnomAD
rs1475241273	69	H>P		No	TOPMed gnomAD
rs1475241273	69	H>R		No	TOPMed gnomAD
rs1022373846	69	H>Y		No	gnomAD
rs758166909	70	I>M		No	ExAC gnomAD
rs2129484939	71	L>Q		No	Ensembl
rs2129484935	72	T>S		No	Ensembl
rs2129484932	73	S>C		No	Ensembl
RCV001800024 rs2129484932	73	S>F		No	ClinVar Ensembl dbSNP
rs2129484929	74	V>E		No	Ensembl
rs2129484929	74	V>G		No	Ensembl
rs1814073934	74	V>L		No	gnomAD
rs1814073934	74	V>M		No	gnomAD
rs2129484925	75	S>T		No	Ensembl
rs1814072463	76	S>*		No	TOPMed
rs2129484922	76	S>T		No	Ensembl
COSM1087064 COSM1087065 rs1218303603	78	R>H	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1218303603	78	R>L		No	TOPMed gnomAD
rs2129484914	79	G>E		No	Ensembl
rs1388815758	79	G>R		No	gnomAD
rs1563021305	80	T>I		No	TOPMed
rs765980265	81	R>G		No	ExAC TOPMed gnomAD
rs1273062625	81	R>T		No	TOPMed gnomAD
rs2129478077	83	C>F		No	Ensembl
TCGA novel	88	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1180219356	89	L>M		No	TOPMed gnomAD
rs765323739	90	D>V		No	ExAC gnomAD
TCGA novel	91	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs759576587	92	P>A		No	ExAC gnomAD
rs759576587	92	P>S		No	ExAC gnomAD
rs773141417	93	T>R		No	ExAC gnomAD
rs1319998961	94	Q>E		No	gnomAD
rs1228980656	97	P>S		No	TOPMed gnomAD
rs1434330368	98	L>I		No	TOPMed gnomAD
TCGA novel	99	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs748108870	100	T>P		No	ExAC gnomAD
rs748108870	100	T>S		No	ExAC gnomAD
rs1809721720	101	L>M		No	TOPMed
rs999855448 COSM1315850	102	N>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
rs968299371	104	V>I		No	TOPMed gnomAD
rs2129478056	107	V>I		No	Ensembl
rs1563254366	109	I>V		No	gnomAD
rs2129478054	112	S>A		No	Ensembl
rs2129478053	113	W>*		No	Ensembl
RCV001761304 rs1324786734	115	P>A		No	ClinVar dbSNP gnomAD
rs1324786734	115	P>T		No	gnomAD
rs2129478049 COSM3411770	121	M>I	Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2129477042	122	V>E		No	Ensembl
rs1299959949	122	V>L		No	gnomAD
rs1299959949	122	V>M		No	gnomAD
rs1394421818	123	E>*		No	gnomAD
rs1394421818	123	E>K		No	gnomAD
rs1394421818	123	E>Q		No	gnomAD
rs765380980	124	D>E		No	ExAC TOPMed gnomAD
rs2129477031	124	D>H		No	Ensembl
TCGA novel rs2129477031	124	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2129477028	124	D>V		No	Ensembl
rs2129477023	125	E>D		No	Ensembl
rs2129477025	125	E>K		No	Ensembl
rs2129477025	125	E>Q		No	Ensembl
rs2129477024	125	E>V		No	Ensembl
rs1808826814	126	T>A		No	TOPMed
rs2129477020	126	T>I		No	Ensembl
rs2129477020	126	T>S		No	Ensembl
rs1808826814	126	T>S		No	TOPMed
rs2129477017	127	V>D		No	Ensembl
rs2129477018	127	V>F		No	Ensembl
rs2129477018	127	V>L		No	Ensembl
rs2129477015	128	L>*		No	Ensembl
rs189454324	129	H>D		No	1000Genomes ExAC gnomAD
rs2129477011	129	H>L		No	Ensembl
rs189454324	129	H>N		No	1000Genomes ExAC gnomAD
COSM144173 rs2129477010	129	H>Q	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
rs189454324	129	H>Y		No	1000Genomes ExAC gnomAD
rs2129477006	130	N>I		No	Ensembl
rs2129477008	130	N>Y		No	Ensembl
rs2129477005	131	I>F		No	Ensembl
rs193921148	132	P>A		No	Ensembl
rs2129477002	132	P>H		No	Ensembl
rs2129477002	132	P>L		No	Ensembl
rs1808821378	133	Y>*		No	TOPMed
rs2129476998	134	M>I		No	Ensembl
rs2129476995	135	G>*		No	Ensembl
rs2129476993	135	G>A		No	Ensembl
rs2129476993	135	G>E		No	Ensembl
COSM133044 rs2129476995	135	G>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
rs2129476993	135	G>V		No	Ensembl
rs1201707887	136	D>E		No	TOPMed gnomAD
rs1484428746	136	D>V		No	TOPMed
rs2129476983	137	E>*		No	Ensembl
rs1808818083	137	E>D		No	Ensembl
rs2129476983	137	E>Q		No	Ensembl
rs2129476981	137	E>V		No	Ensembl
rs2129476978	138	V>D		No	Ensembl
rs766447146	138	V>I		No	ExAC gnomAD
rs766447146	138	V>L		No	ExAC gnomAD
rs2129476975	139	L>*		No	Ensembl
rs2129476976	139	L>I		No	Ensembl
rs2129476975	139	L>S		No	Ensembl
rs2129476969	140	D>E		No	Ensembl
rs2129476972	140	D>H		No	Ensembl
rs2129476972	140	D>N		No	Ensembl
rs2129476972	140	D>Y		No	Ensembl
TCGA novel rs2129476967	141	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2129476967	141	Q>E		No	Ensembl
rs2129476964	141	Q>H		No	Ensembl
rs2129476966	141	Q>L		No	Ensembl
rs2129476966	141	Q>R		No	Ensembl
rs2129476959	142	D>E		No	Ensembl
rs2129476961	142	D>H		No	Ensembl
rs2129476961	142	D>N		No	Ensembl
COSM3635748 rs2129476960 COSM3635749	142	D>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2129476953	143	G>A		No	Ensembl
rs2129476953	143	G>D		No	Ensembl
rs2129476956	143	G>R		No	Ensembl
rs2129476956	143	G>S		No	Ensembl
rs2129476948	144	T>I		No	Ensembl
rs2129476951	144	T>S		No	Ensembl
rs2129476948	144	T>S		No	Ensembl
COSM53028	145	F>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2129476944	145	F>I		No	Ensembl
COSM144174 rs2129476942	145	F>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
rs2129476941	146	I>F		No	Ensembl
rs2129476940	146	I>N		No	Ensembl
rs2129476941	146	I>V		No	Ensembl
rs2129476936	147	E>K		No	Ensembl
rs2129476936	147	E>Q		No	Ensembl
COSM5467064 rs1808814702 COSM5467065	148	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2129476928	148	E>D		No	Ensembl
rs1808814702	148	E>Q		No	Ensembl
rs2129476930	148	E>V		No	Ensembl
rs2129476923	149	L>P		No	Ensembl
rs2129476923 COSM133039	149	L>Q	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
rs1808814001	149	L>V		No	Ensembl
rs1446361012	150	I>K		No	TOPMed gnomAD
rs1808812566	150	I>M		No	Ensembl
rs2129476917	153	Y>N		No	Ensembl
rs2129476912	154	D>H		No	Ensembl
rs2129476912	154	D>N		No	Ensembl
rs375168091	155	G>A		No	ESP ExAC gnomAD
rs375168091	155	G>E		No	ESP ExAC gnomAD
rs2129476910	155	G>R		No	Ensembl
rs375168091	155	G>V		No	ESP ExAC gnomAD
rs2129476894	157	V>E		No	Ensembl
rs2129476894	157	V>G		No	Ensembl
rs2129476897	157	V>I		No	Ensembl
rs2129476897	157	V>L		No	Ensembl
rs2129476891	158	H>D		No	Ensembl
rs2129476889	158	H>L		No	Ensembl
rs2129476889	158	H>P		No	Ensembl
rs147319809	158	H>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2129476889	158	H>R		No	Ensembl
rs2129476885	159	G>E		No	Ensembl
COSM1449032 rs1488870104 COSM96480	159	G>R	large_intestine haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated gnomAD
rs2129476873	160	D>E		No	Ensembl
rs2129476875	160	D>H		No	Ensembl
rs2129476875	160	D>N		No	Ensembl
rs2129476871	161	R>I		No	Ensembl
rs2129476871	161	R>K		No	Ensembl
rs2129476871	161	R>T		No	Ensembl
rs2129476866 COSM1087062 COSM1087063	162	E>*	Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2129476866	162	E>K		No	Ensembl
rs2129476474	164	G>V		No	Ensembl
rs759313335	166	I>L		No	ExAC gnomAD
COSM280913 COSM280914	169	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	172	V>C	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1440638451	172	V>L		No	TOPMed
rs1466183869	173	E>A		No	TOPMed gnomAD
rs2129476472	175	V>M		No	Ensembl
rs1234158247	177	A>S		No	gnomAD
rs1234158247	177	A>T		No	gnomAD
rs1808496609	178	L>F		No	gnomAD
rs1808496609	178	L>V		No	gnomAD
rs2129476461	179	G>A		No	Ensembl
rs1808496051	179	G>R		No	Ensembl
rs770380532	180	Q>H		No	ExAC TOPMed gnomAD
rs1426017767	182	N>D		No	gnomAD
rs746465165	182	N>I		No	ExAC TOPMed gnomAD
rs1456751008	183	D>G		No	gnomAD
TCGA novel	183	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1239594935	184	D>A		No	TOPMed gnomAD
rs1239594935	184	D>G		No	TOPMed gnomAD
CA16618395 rs1064796617 RCV000485113	184	D>H		No	ClinGen ClinVar Ensembl dbSNP
rs1064796617	184	D>N		No	Ensembl
rs1263098237	186	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1322202663	187	D>H		No	gnomAD
rs1322202663	187	D>Y		No	gnomAD
rs1308485787	188	D>A		No	gnomAD
rs1585021829	188	D>Y		No	Ensembl
rs1808482641	189	D>E		No	TOPMed
rs2129476425	189	D>N		No	Ensembl
rs867587253	189	D>G		No	Ensembl
rs2129476425	189	D>Y		No	Ensembl
rs2129476418	191	D>H		No	Ensembl
rs2129476418	191	D>N		No	Ensembl
rs2129476418	191	D>Y		No	Ensembl
rs1808478688	194	E>K		No	TOPMed gnomAD
rs1390310460	195	E>D		No	gnomAD
rs749498698	197	E>G		No	ExAC TOPMed gnomAD
COSM5225478 COSM5225479	197	E>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs780251816	198	E>A		No	ExAC gnomAD
rs1808475632	199	K>E		No	gnomAD
rs1563243840	199	K>N		No	TOPMed gnomAD
rs2129476406	200	Q>H		No	Ensembl
rs767489605	202	D>E		No	ExAC TOPMed gnomAD
TCGA novel	203	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs758449513	203	L>R		No	ExAC gnomAD
rs1808472452	203	L>V		No	TOPMed gnomAD
rs1179661739	204	E>D		No	gnomAD
rs1382627046	204	E>G		No	gnomAD
rs1342246023	205	D>Y		No	TOPMed gnomAD
CA369720052 RCV000498482 COSM52996 rs1554498830	207	R>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM1087060 COSM1087061 rs765147666	207	R>Q	Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs2129476387	208	D>N		No	Ensembl
TCGA novel	208	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs770030757	209	D>E		No	ExAC gnomAD
rs2129476382	209	D>N		No	Ensembl
rs2129476382	209	D>Y		No	Ensembl
rs1263788302	212	S>R		No	gnomAD
rs2129475819	212	S>T		No	Ensembl
rs377467108	213	R>L		No	ESP ExAC TOPMed gnomAD
rs973062748	214	P>L		No	TOPMed gnomAD
rs973062748	214	P>Q		No	TOPMed gnomAD
rs2129475809	215	P>S		No	Ensembl
rs771139896	216	R>G		No	ExAC TOPMed gnomAD
rs747028969	216	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs537373788	220	S>F		No	TOPMed gnomAD
rs374699518	221	D>H		No	ESP gnomAD
rs374699518	221	D>N		No	ESP gnomAD
rs908303261 COSM5467062 COSM5467063	222	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs917585556	223	I>T		No	TOPMed gnomAD
COSM3635746 COSM3635747	226	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3635745 COSM3635744	228	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1699542 rs1807967272 COSM1699543	229	S>L	skin [Cosmic]	No	cosmic curated Ensembl
rs779951996	230	M>L		No	ExAC TOPMed gnomAD
COSM1087058 COSM1087059	233	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1212616016	234	K>E		No	gnomAD
rs2129475785	235	G>D		No	Ensembl
rs2129475788	235	G>S		No	Ensembl
rs755823072	236	T>I		No	ExAC gnomAD
TCGA novel	237	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2129475781	237	A>V		No	Ensembl
TCGA novel	238	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs982908069	238	E>K		No	Ensembl
TCGA novel	239	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM1087056 COSM1087057	241	K>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1087055 COSM86981	246	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2129475564	246	E>GV*		No	Ensembl
rs2129475562	247	L>K		No	Ensembl
rs1005840534	248	T>A		No	Ensembl
rs1164182968	248	T>I		No	gnomAD
COSM49149 CA16603326 rs1057520183 RCV000418021 COSM1449013	249	E>K	Variant assessed as Somatic; MODERATE impact. large_intestine haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
rs1057520183	249	E>Q		No	Ensembl
rs200520401	250	Q>E		No	Ensembl
rs1224767362	251	Q>*		No	TOPMed gnomAD
rs1224767362	251	Q>E		No	TOPMed gnomAD
rs2129475544	252	L>H		No	Ensembl
rs2129475543	253	P>A		No	Ensembl
rs2129475542	254	G>D		No	Ensembl
rs2129475540 COSM53016	255	A>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
rs372285596 COSM1449008 COSM1449007	255	A>V	large_intestine [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs1233687730	256	L>P		No	gnomAD
rs568618347	256	L>V		No	Ensembl
rs2129475535	257	P>L		No	Ensembl
rs1220875602	258	P>A		No	TOPMed gnomAD
rs2129475531	258	P>L		No	Ensembl
rs1220875602	258	P>S		No	TOPMed gnomAD
rs2129475527	260	C>Y		No	Ensembl
rs1807774921	261	T>I		No	Ensembl
rs1354940290	262	P>S		No	gnomAD
rs1354940290	262	P>T		No	gnomAD
rs2129475523 RCV001757239	263	N>missing		No	ClinVar dbSNP
rs780959381	263	N>D		No	ExAC gnomAD
rs756942104	264	I>V		No	ExAC gnomAD
rs2129475516	266	G>A		No	Ensembl
rs2129475516	266	G>V		No	Ensembl
rs1807769614	267	P>L		No	gnomAD
rs1807770244	267	P>S		No	TOPMed
rs2129475510	269	A>T		No	Ensembl
rs2129475508	270	K>N		No	Ensembl
COSM3778216 COSM3778215	271	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs763682209	273	Q>K		No	ExAC TOPMed gnomAD
rs2129475501	276	Q>*		No	Ensembl
rs757807865	279	H>P		No	ExAC gnomAD
rs1807765112	280	S>F		No	Ensembl
RCV000120898 RCV003221809 rs587778304 CA159198	283	T>M		No	ClinGen ClinVar Ensembl dbSNP
rs1563235911	285	F>L		No	Ensembl
rs2129475490	286	C>S		No	Ensembl
COSM1000721 rs2129475489	288	R>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
rs1807763199	288	R>P		No	TOPMed
COSM52995 COSM1449004 rs1807763199	288	R>Q	Variant assessed as Somatic; MODERATE impact. large_intestine haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed
TCGA novel	292	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM4854708 COSM4854707	293	D>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2129475484	293	D>N		No	Ensembl
rs2129475484	293	D>Y		No	Ensembl
rs2129475483	294	C>Y		No	Ensembl
rs2129475479	298	P>A		No	Ensembl
rs2129475479 RCV001769029	298	P>S		No	ClinVar Ensembl dbSNP
rs1189608375	300	H>L		No	gnomAD
rs2129472408	300	H>Y		No	Ensembl
rs2129472403	301	A>V		No	Ensembl
rs2129472401 RCV002273609	302	T>I		No	ClinVar Ensembl dbSNP
rs2129472399	305	T>I		No	Ensembl
rs1385357837	306	Y>*		No	TOPMed
rs766875832	306	Y>S		No	ExAC gnomAD
rs1315592469	307	K>N		No	gnomAD
rs2129472395	308	R>W		No	Ensembl
rs773492931	313	T>A		No	ExAC gnomAD
rs1805460186	314	A>P		No	Ensembl
rs1805454439	323	Q>H		No	Ensembl
rs2129472372	324	C>Y		No	Ensembl
rs765923874	325	Y>*		No	ExAC TOPMed gnomAD
rs2129472368	326	Q>*		No	Ensembl
rs746749718	328	L>V		No	ExAC gnomAD
rs2129471858	329	E>K		No	Ensembl
rs2129471858	329	E>Q		No	Ensembl
rs2129471854	330	G>*		No	Ensembl
rs2129471852	331	A>G		No	Ensembl
rs2129471853	331	A>T		No	Ensembl
rs1394570516	333	E>D		No	TOPMed gnomAD
rs2129471850	333	E>K		No	Ensembl
rs2129471850 COSM1251646 COSM1251645	333	E>Q	oesophagus [Cosmic]	No	cosmic curated Ensembl
rs2129471847	335	A>S		No	Ensembl
rs747782211	336	A>V		No	ExAC gnomAD
rs2129471845	337	A>S		No	Ensembl
rs2129471845	337	A>T		No	Ensembl
rs2129471841	337	A>V		No	Ensembl
rs2129471831	339	T>I		No	Ensembl
rs2129471831	339	T>S		No	Ensembl
COSM744989 COSM53011 rs1390180981	340	A>T	lung haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated gnomAD
rs748860527	340	A>V		No	ExAC TOPMed gnomAD
rs2129471823	341	E>D		No	Ensembl
COSM6176703 COSM6176704	341	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1699540 COSM1699541 rs2129471815	342	R>Q	Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs1427041861	342	R>W		No	TOPMed gnomAD
rs1805063749	344	K>N		No	Ensembl
rs1366762452	346	P>A		No	gnomAD
rs2129471802	346	P>L		No	Ensembl
rs200964386	347	P>L		No	1000Genomes ExAC gnomAD
rs1805061488	347	P>S		No	Ensembl
COSM1087050 rs2129471799 COSM1087049	349	R>C	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs775942317	349	R>H		No	TOPMed gnomAD
rs775942317	349	R>P		No	TOPMed gnomAD
rs2129471798	350	P>A		No	Ensembl
rs1182158215	350	P>L		No	gnomAD
rs1378812518	351	G>A		No	TOPMed gnomAD
rs2129471795	351	G>R		No	Ensembl
rs2129471786	352	G>A		No	Ensembl
rs1805056719	352	G>S		No	TOPMed gnomAD
rs2129471786	352	G>V		No	Ensembl
COSM1205909 COSM1205908 rs1441187386	353	R>C	large_intestine [Cosmic]	No	cosmic curated Ensembl
rs1805055363	353	R>H		No	TOPMed gnomAD
rs1158852320	354	R>K		No	TOPMed gnomAD
rs146533006	355	R>S		No	ESP TOPMed
rs2129471778	356	G>A		No	Ensembl
rs781468426	357	R>P		No	ExAC gnomAD
rs781468426	357	R>Q		No	ExAC gnomAD
RCV001760823 rs1193491117	357	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinVar NCI-TCGA TOPMed dbSNP gnomAD
rs2129471768	359	P>A		No	Ensembl
COSM4830923 rs2129471768 COSM4830922	359	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs1285260202	360	N>T		No	gnomAD
rs1214137197	361	N>D		No	gnomAD
rs1352634479	361	N>T		No	gnomAD
rs2129471756 COSM1448993 COSM1448994	362	S>N	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2129471753	362	S>R		No	Ensembl
rs2129471750	363	S>N		No	Ensembl
rs2129471745	366	S>I		No	Ensembl
rs2129471745	366	S>N		No	Ensembl
rs1330757055	367	T>I		No	gnomAD
rs1584938562	367	T>P		No	Ensembl
rs1330757055	367	T>S		No	gnomAD
rs2129471735	368	P>H		No	Ensembl
rs2129471737	368	P>S		No	Ensembl
rs2129471737	368	P>T		No	Ensembl
rs1064796749 CA16618393 RCV000482926	369	T>missing		No	ClinGen ClinVar dbSNP
COSM49151	369	T>H	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1563213222	370	I>S		No	Ensembl
rs1441305206	371	N>H		No	TOPMed
rs1265059186	371	N>K		No	gnomAD
rs1281404133	372	V>M		No	gnomAD
rs2129471724	373	L>Q		No	Ensembl
COSM744990 COSM744991 rs144316514	374	E>Q	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ESP NCI-TCGA TOPMed gnomAD
rs2129471718	375	S>P		No	Ensembl
rs2129471718	375	S>T		No	Ensembl
rs2129471715	376	K>N		No	Ensembl
rs1298174513	376	K>Q		No	gnomAD
rs1805035034	378	T>A		No	Ensembl
rs553185801	378	T>I		No	1000Genomes ExAC gnomAD
rs1387683954	379	D>E		No	gnomAD
rs2129471705	380	S>N		No	Ensembl
rs2129471703	382	R>K		No	Ensembl
rs2129471703	382	R>M		No	Ensembl
rs760581645	382	R>S		No	ExAC gnomAD
rs867021731	383	E>*		No	Ensembl
rs1465177913	383	E>G		No	gnomAD
rs2129471694	385	G>E		No	Ensembl
rs2129471696	385	G>W		No	Ensembl
rs1375591963	386	T>S		No	gnomAD
rs2129471687	387	E>K		No	Ensembl
rs1200905474	388	T>R		No	TOPMed gnomAD
rs587778305 CA159204 RCV000120900	389	G>A		No	ClinGen ClinVar Ensembl dbSNP
rs587778305	389	G>E		No	Ensembl
rs1292037761	389	G>R		No	TOPMed gnomAD
rs1292037761	389	G>W		No	TOPMed gnomAD
COSM3259662 COSM3259661	390	G>E	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1805024707	390	G>R		No	TOPMed gnomAD
rs2129471676	391	E>D		No	Ensembl
rs2129471678	391	E>K		No	Ensembl
TCGA novel	391	E>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1468914332	392	N>D		No	gnomAD
rs2129471672	392	N>I		No	Ensembl
rs2129471667	394	D>N		No	Ensembl
rs1191492481	394	D>V		No	gnomAD
rs1254820988	395	K>E		No	TOPMed gnomAD
rs774270705	395	K>T		No	ExAC gnomAD
COSM1087047 COSM1087048	396	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM53006 COSM5879097	396	E>K	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1805019052	396	E>K		No	Ensembl
rs2129471660	398	E>K		No	Ensembl
rs1355148527	399	E>Q		No	Ensembl
TCGA novel	400	K>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs748915411	401	K>Q		No	ExAC gnomAD
rs779757594	402	D>G		No	ExAC TOPMed gnomAD
rs2129471650	402	D>H		No	Ensembl
rs2129471644	403	E>*		No	Ensembl
rs769298548	403	E>G		No	ExAC TOPMed gnomAD
rs2129471644	403	E>K		No	Ensembl
rs2129471637	405	S>L		No	Ensembl
rs1328717365	407	S>A		No	gnomAD
rs2129471627	407	S>F		No	Ensembl
rs2129471621	408	S>C		No	Ensembl
rs1048763359	409	E>G		No	Ensembl
rs2129471416	410	A>S		No	Ensembl
rs1804827959	411	N>D		No	Ensembl
rs1454562282	413	R>Q		No	gnomAD
rs2129471411	413	R>W		No	Ensembl
rs2129471408	414	C>*		No	Ensembl
rs775295296	415	Q>E		No	ExAC TOPMed gnomAD
rs2129471401	417	P>L		No	Ensembl
rs2129471402	417	P>S		No	Ensembl
rs1804823285	418	I>M		No	gnomAD
rs1315928462	418	I>V		No	TOPMed
rs776246781	423	N>H		No	ExAC gnomAD
rs1238522695	423	N>K		No	TOPMed gnomAD
rs1163934928	423	N>S		No	gnomAD
rs770327434	424	I>T		No	ExAC TOPMed gnomAD
rs1481097067	424	I>V		No	TOPMed gnomAD
rs2129471389	425	E>V		No	Ensembl
rs2129471383	426	P>L		No	Ensembl
COSM3635741 COSM3635740 rs2129471385	426	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2129471381	427	P>A		No	Ensembl
rs2129471380	428	E>K		No	Ensembl
rs1804815861	431	E>K		No	TOPMed gnomAD
rs1804815120	432	W>S		No	TOPMed
rs2129471371	434	G>S		No	Ensembl
rs2129471367	435	A>T		No	Ensembl
rs2129471364	435	A>V		No	Ensembl
TCGA novel rs2129471354	436	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2129471351	437	A>V		No	Ensembl
rs1233462075	439	M>I		No	gnomAD
rs370444695	439	M>T		No	ESP ExAC gnomAD
rs2129471346	443	L>F		No	Ensembl
rs1198807049	444	I>T		No	gnomAD
rs2129471345	445	G>D		No	Ensembl
rs2129471345	445	G>V		No	Ensembl
COSM1087045 COSM1087046	447	Y>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs866144035	448	Y>C		No	Ensembl
rs2129471338	449	D>H		No	Ensembl
CA369714985 rs1554489250 RCV000498852	450	N>D		No	ClinGen ClinVar Ensembl dbSNP
rs897492574	450	N>S		No	TOPMed gnomAD
rs748458685	452	C>Y		No	ExAC TOPMed gnomAD
rs2129471330	453	A>G		No	Ensembl
rs2129471330	453	A>V		No	Ensembl
rs779136188	454	I>L		No	ExAC TOPMed gnomAD
rs1804804597	456	R>K		No	TOPMed
rs886062080	456	R>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	gnomAD NCI-TCGA
rs2129471327	457	L>*		No	Ensembl
rs1225047502	458	I>L		No	gnomAD
rs2129471319	463	C>Y		No	Ensembl
rs1359796591	467	Y>C		No	gnomAD
rs1431254558	468	E>G		No	TOPMed gnomAD
rs868477296	471	V>F		No	Ensembl
rs1054582039	472	K>T		No	Ensembl
COSM1315855 rs765768601	474	S>Y	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
rs566622851	476	I>L		No	1000Genomes
rs2129471144	476	I>T		No	Ensembl
TCGA novel	478	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1804665563	479	P>S		No	Ensembl
rs2129471142	480	A>S		No	Ensembl
rs1168301922	481	P>A		No	Ensembl
rs2129471141	481	P>L		No	Ensembl
rs1418025724	483	E>A		No	gnomAD
rs1418025724	483	E>G		No	gnomAD
rs1418025724	483	E>V		No	gnomAD
rs770006533	487	T>A		No	ExAC gnomAD
rs1584928885	487	T>N		No	TOPMed
rs1584928885	487	T>S		No	TOPMed
rs1373185092	489	P>L		No	gnomAD
rs2129471131	492	K>R		No	Ensembl
rs1340007682	495	K>Q		No	TOPMed
rs746001943	496	H>Y		No	ExAC gnomAD
rs1263153853 COSM87274 COSM600054	497	R>Q	lung Variant assessed as Somatic; MODERATE impact. endometrium haematopoietic_and_lymphoid_tissue [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs1462379572	497	R>W		No	gnomAD
RCV000998940 rs1563205364	499	W>*		No	ClinVar Ensembl dbSNP
rs2129470335	500	A>T		No	Ensembl
rs2129470334	501	A>T		No	Ensembl
rs2129470329	501	A>V		No	Ensembl
rs2129470302	503	C>Y		No	Ensembl
TCGA novel	505	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	505	K>Y	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1189939128	506	I>T		No	TOPMed gnomAD
rs2129470291	507	Q>*		No	Ensembl
COSM3411769 COSM3411768 rs2129470288	510	K>R	central_nervous_system [Cosmic]	No	cosmic curated Ensembl
rs2129470286	511	D>N		No	Ensembl
rs2129470141	512	G>D		No	Ensembl
rs776925814	512	G>S		No	ExAC TOPMed gnomAD
rs1348759539	513	S>F		No	gnomAD
rs1203188103	513	S>P		No	gnomAD
rs747009766	514	S>T		No	ExAC TOPMed gnomAD
rs1229068307	515	N>K		No	TOPMed gnomAD
rs1473228269	516	H>Y		No	TOPMed gnomAD
rs1804163472	524	D>G		No	TOPMed
rs2129470133	525	H>Y		No	Ensembl
rs2129470132	526	P>S		No	Ensembl
rs2129470127	527	R>Q		No	Ensembl
rs2129470129	527	R>W		No	Ensembl
rs2129470123	528	Q>*		No	Ensembl
rs768512235	528	Q>H		No	ExAC gnomAD
rs749239554	529	P>A		No	ExAC gnomAD
rs988151352	529	P>L		No	Ensembl
rs749239554	529	P>S		No	ExAC gnomAD
rs2129470119	530	C>R		No	Ensembl
COSM3635737 COSM3635736	530	C>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	530	C>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1318022205	531	D>G		No	gnomAD
rs1318022205	531	D>V		No	gnomAD
rs2129470117 COSM1195186 COSM1195185	532	S>N	lung [Cosmic]	No	cosmic curated Ensembl
COSM122927 rs1804158896 COSM122928	533	S>L	upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated TOPMed gnomAD
rs1804158896	533	S>W		No	TOPMed gnomAD
rs2129470112	534	C>W		No	Ensembl
rs2129470114	534	C>Y		No	Ensembl
rs2129470111	536	C>F		No	Ensembl
rs2129470108	539	A>T		No	Ensembl
rs1804156930	539	A>V		No	Ensembl
COSM1087043 COSM1087044	540	Q>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3259642 rs2129470106 COSM3259641	541	N>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2129470103	543	C>G		No	Ensembl
rs1804155615	545	K>N		No	TOPMed
rs745554458	546	F>L		No	ExAC gnomAD
rs1804154189	547	C>*		No	TOPMed
COSM744993 COSM744992	548	Q>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1426509356	548	Q>H		No	TOPMed gnomAD
rs2129470098	548	Q>L		No	Ensembl
rs2129470092 COSM744995 COSM744994	551	S>*	lung Variant assessed as Somatic; HIGH impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs1804152605	552	E>*		No	TOPMed
rs1804152605	552	E>K		No	TOPMed
rs1804152605	552	E>Q		No	TOPMed
rs2129469868	553	C>*		No	Ensembl
rs1476400650	553	C>*		No	TOPMed
rs2129469866	554	Q>E		No	Ensembl
rs2129469864	555	N>I		No	Ensembl
rs1268069858	556	R>C		No	TOPMed gnomAD
COSM133052 rs1164610428	556	R>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated TOPMed
rs1164610428	556	R>P		No	TOPMed
rs2129469860	558	P>A		No	Ensembl
rs2129469858	558	P>L		No	Ensembl
rs2129469860	558	P>S		No	Ensembl
rs2129469853	559	G>A		No	Ensembl
rs2129469853	559	G>V		No	Ensembl
rs2129469848	560	C>Y		No	Ensembl
rs1554486440	561	R>C		No	Ensembl
COSM133045 rs1803903114	561	R>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
rs1803903114	561	R>P		No	Ensembl
rs2129469846	562	C>Y		No	Ensembl
COSM5945121	563	K>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2129469844	564	A>T		No	Ensembl
rs1443131834	564	A>V		No	gnomAD
rs2129469842	565	Q>*		No	Ensembl
rs2129469839 COSM53023	566	C>Y	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
rs1459861646	567	N>T		No	gnomAD
COSM133043	568	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1803899297	569	K>N		No	gnomAD
rs2129469834	570	Q>*		No	Ensembl
VAR_078324	571	C>W	found in a patient with myelodysplastic syndrome and myelodysplastic-myeloproliferative neoplasms; somatic mutation; loss of histone methyltransferase activity [UniProt]	No	UniProt
CA369713512 COSM1448989 COSM1448990 rs1554486390 RCV000498960	572	P>L	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
rs2129469830	572	P>S		No	Ensembl
rs2129469826	573	C>Y		No	Ensembl
rs1584909558	574	Y>S		No	Ensembl
rs754291699	575	L>V		No	ExAC gnomAD
rs2129469818	576	A>S		No	Ensembl
rs2129469818 COSM1448988 COSM1448987	576	A>T	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
TCGA novel	577	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2129469817 RCV001754787	577	V>I		No	ClinVar Ensembl dbSNP
COSM5879092 COSM5879091 rs760824107	578	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC gnomAD
rs1563201455	578	R>Q		No	Ensembl
rs1803893868	579	E>K		No	Ensembl
rs979372067	581	D>E		No	TOPMed gnomAD
rs2129469812	581	D>N		No	Ensembl
rs2129469810	582	P>H		No	Ensembl
TCGA novel	582	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1584909369	583	D>A		No	Ensembl
rs1584909369	583	D>V		No	Ensembl
rs2129469809	583	D>Y		No	Ensembl
rs767528515	584	L>F		No	ExAC gnomAD
rs767528515	584	L>I		No	ExAC gnomAD
rs761834990	586	L>F		No	ExAC TOPMed gnomAD
rs761834990	586	L>V		No	ExAC TOPMed gnomAD
rs2129469803	587	T>I		No	Ensembl
rs2129469802	590	A>V		No	Ensembl
rs2129469799	592	D>N		No	Ensembl
rs1383600888	593	H>R		No	TOPMed gnomAD
rs2129469797	593	H>Y		No	Ensembl
rs2129469792	594	W>*		No	Ensembl
rs1266182961	594	W>*		No	TOPMed gnomAD
rs2129469795	594	W>R		No	Ensembl
rs770701942	595	D>E		No	ExAC gnomAD
rs2129469787	596	S>N		No	Ensembl
rs147328633	596	S>R		No	ESP TOPMed
rs587778302	599	V>L		No	ExAC TOPMed gnomAD
RCV000120894 rs587778302 CA159186	599	V>M		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs2129469781	601	C>Y		No	Ensembl
rs2129469779	602	K>N		No	Ensembl
TCGA novel rs2129469777	603	N>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs1276025093	604	C>W		No	gnomAD
rs1483639186	604	C>Y		No	TOPMed
rs2129469772	605	S>N		No	Ensembl
rs2129469772	605	S>T		No	Ensembl
rs2129469770	608	R>G		No	Ensembl
rs561605379	608	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA gnomAD
rs2129469770	608	R>W		No	Ensembl
rs1803880257	609	G>A		No	gnomAD
rs1803880257	609	G>D		No	gnomAD
rs587778301 CA159183 RCV000120893	610	S>F		No	ClinGen ClinVar Ensembl dbSNP
rs112034331	610	S>P		No	Ensembl
rs112034331	610	S>T		No	Ensembl
rs2129469767	612	K>R		No	Ensembl
rs2129469088	613	H>D		No	Ensembl
rs2129469085	613	H>L		No	Ensembl
rs2129469085	613	H>P		No	Ensembl
rs2129469085	613	H>R		No	Ensembl
rs2129469082	614	L>P		No	Ensembl
rs2129469083	614	L>V		No	Ensembl
rs2129469081	615	L>*		No	Ensembl
rs1803133868	615	L>F		No	Ensembl
rs2129469076	617	A>P		No	Ensembl
rs2129469076	617	A>S		No	Ensembl
rs2129469076	617	A>T		No	Ensembl
rs2129469074	618	P>A		No	Ensembl
rs2129469071	618	P>L		No	Ensembl
rs2129469071	618	P>R		No	Ensembl
rs2129469074	618	P>S		No	Ensembl
rs2129469069	619	S>C		No	Ensembl
rs2129469069	619	S>F		No	Ensembl
rs2129469065	620	D>A		No	Ensembl
rs749847544	620	D>E		No	ExAC gnomAD
rs2129469065	620	D>G		No	Ensembl
rs2129469068	620	D>H		No	Ensembl
rs2129469068	620	D>N		No	Ensembl
rs2129469065	620	D>V		No	Ensembl
rs2129469060	621	V>E		No	Ensembl
rs2129469060	621	V>G		No	Ensembl
rs587783625	621	V>L		No	Ensembl
COSM6109193 COSM6109194	622	A>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2129469056	622	A>G		No	Ensembl
rs2129469058	622	A>P		No	Ensembl
rs2129469058	622	A>S		No	Ensembl
rs2129469058	622	A>T		No	Ensembl
rs1476603937	623	G>A		No	TOPMed
rs1476603937	623	G>D		No	TOPMed
rs2129469054	623	G>S		No	Ensembl
rs1476603937	623	G>V		No	TOPMed
rs2129469051	624	W>*		No	Ensembl
rs2129469052	624	W>*		No	Ensembl
rs2129469051	624	W>C		No	Ensembl
rs2129469052	624	W>L		No	Ensembl
COSM3720337 COSM3720336 rs2129469053	624	W>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
rs2129469049	625	G>R		No	Ensembl
rs2129469048	626	I>S		No	Ensembl
rs2129469048	626	I>T		No	Ensembl
rs781407066	626	I>V		No	ExAC gnomAD
rs2129469044	627	F>Y		No	Ensembl
rs757534855	628	I>F		No	ExAC gnomAD
rs751723382	628	I>M		No	ExAC gnomAD
rs2129469043	628	I>N		No	Ensembl
rs2129469043	628	I>T		No	Ensembl
rs2129469040	629	K>E		No	Ensembl
rs2129469037	629	K>N		No	Ensembl
rs1803125840	629	K>R		No	Ensembl
TCGA novel	630	D>E	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs372010918	630	D>E		No	ESP ExAC TOPMed gnomAD
TCGA novel	630	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2129469035	631	P>A		No	Ensembl
rs2129469035 TCGA novel	631	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2129469035	631	P>T		No	Ensembl
rs2129469031	632	V>E		No	Ensembl
rs2129469032	632	V>L		No	Ensembl
rs2129469032	632	V>M		No	Ensembl
rs2129469029	633	Q>*		No	Ensembl
rs2129469029	633	Q>E		No	Ensembl
rs2129469026	633	Q>H		No	Ensembl
rs2129469029	633	Q>K		No	Ensembl
rs2129469027	633	Q>P		No	Ensembl
rs2129469027	633	Q>R		No	Ensembl
rs1301957283	634	K>N		No	TOPMed gnomAD
rs2129469025	634	K>R		No	Ensembl
rs2129469023	635	N>T		No	Ensembl
rs2129469019	636	E>D		No	Ensembl
rs753739962	636	E>K		No	ExAC gnomAD
rs753739962	636	E>Q		No	ExAC gnomAD
rs2129469016	637	F>C		No	Ensembl
rs2129469017	637	F>I		No	Ensembl
rs2129469015	637	F>L		No	Ensembl
rs2129469016	637	F>Y		No	Ensembl
rs2129469014	638	I>F		No	Ensembl
rs2129469012	638	I>M		No	Ensembl
rs2129469013	638	I>N		No	Ensembl
COSM452565 rs2129469008 COSM452566	639	S>*	Variant assessed as Somatic; HIGH impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2129469008	639	S>L		No	Ensembl
rs2129469010	639	S>P		No	Ensembl
rs2129469010	639	S>T		No	Ensembl
rs2129469007	640	E>*		No	Ensembl
rs2129469006	640	E>A		No	Ensembl
rs2129469007	640	E>K		No	Ensembl
rs2129469007	640	E>Q		No	Ensembl
rs2129469002	641	Y>*		No	Ensembl
COSM37032 rs267601394 VAR_067228	641	Y>C	haematopoietic_and_lymphoid_tissue a patient with diffuse large B-cell lymphoma; somatic mutation; changed substrate preferences; prefers substrates with greater methylation H3K27me0<me1<me2 [Cosmic, UniProt]	No	cosmic curated Ensembl UniProt
rs267601395	641	Y>D		No	Ensembl
rs2129468995	642	C>*		No	Ensembl
rs2129468997	642	C>F		No	Ensembl
COSM5945112 rs2129469000	642	C>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2129468997	642	C>S		No	Ensembl
rs2129468997	642	C>Y		No	Ensembl
rs2129468992	643	G>R		No	Ensembl
rs766387427	644	E>K		No	ExAC gnomAD
rs2129468250	647	S>F		No	Ensembl
TCGA novel	653	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2129468246	655	G>W		No	Ensembl
COSM1235019 COSM1235018 rs761656628	659	D>G	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated ExAC gnomAD
TCGA novel	659	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	660	K>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	660	K>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA10588420 RCV000256045 rs886039601	664	S>R		No	ClinGen ClinVar Ensembl dbSNP
rs2129468227	668	N>H		No	Ensembl
rs368076387 COSM49155	670	N>K	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs1345461419	672	D>V		No	gnomAD
COSM1087039 COSM1087040	673	F>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1321951994 COSM133038	674	V>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated gnomAD
COSM1315851 rs1057519833	677	A>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
COSM306072 COSM306073 rs2129467682	679	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2129467682	679	R>L		No	Ensembl
rs587783626	679	R>S		No	Ensembl
rs2129467680	680	K>N		No	Ensembl
rs2129467678	681	G>D		No	Ensembl
TCGA novel	683	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2129467676 VAR_078330 COSM49154	685	R>C	haematopoietic_and_lymphoid_tissue found in a patient with myeloid disorders; somatic mutation; loss of histone methyltransferase activity [Cosmic, UniProt]	No	cosmic curated Ensembl UniProt
VAR_067233 COSM1319003 rs1554481435 RCV000521642 CA369712270 COSM52980	685	R>H	haematopoietic_and_lymphoid_tissue a patient with chronic myelomonocytic leukemia [Cosmic, UniProt]	No	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
rs2129467669	687	A>T		No	Ensembl
rs2129467667 COSM220530 COSM220529	687	A>V	Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs987568723	688	N>H		No	Ensembl
rs1437977406	691	V>A		No	gnomAD
rs781275057	691	V>I		No	ExAC gnomAD
rs781275057	691	V>L		No	ExAC gnomAD
rs1480044679	696	Y>C		No	gnomAD
rs771467281	699	V>I		No	ExAC gnomAD
RCV001767821 rs1395843139	701	M>I		No	ClinVar TOPMed dbSNP gnomAD
rs2129467520	704	G>A		No	Ensembl
rs1451278890	704	G>S		No	gnomAD
rs1396484737	706	H>N		No	gnomAD
rs1396484737	706	H>Y		No	gnomAD
rs2129467510	707	R>G		No	Ensembl
rs2129467506	709	G>C		No	Ensembl
rs2129467498	712	A>V		No	Ensembl
rs990847755	713	K>E		No	TOPMed gnomAD
rs2129467496	714	R>T		No	Ensembl
rs1802349763	715	A>G		No	TOPMed
COSM390937 rs1802349763 COSM390938	715	A>V	lung [Cosmic]	No	cosmic curated TOPMed
rs1802349310	716	I>M		No	Ensembl
rs1375274910	717	Q>H		No	gnomAD
COSM3832222 COSM3832221	718	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs747933788 COSM275030 COSM275031	720	E>K	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
COSM1087035 COSM1087036	721	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
VAR_078332	726	Y>D	found in a patient with chronic myelomonocytic leukemia; somatic mutation; loss of histone methyltransferase activity [UniProt]	No	UniProt
rs1802345443	726	Y>F		No	TOPMed
rs1554481113 RCV000497306 CA369711890	726	Y>H		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	727	R>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1801831979	728	Y>H		No	gnomAD
rs1554479391 CA369711846 RCV000578862	730	Q>*		No	ClinGen ClinVar Ensembl dbSNP
rs2129465367	730	Q>H		No	Ensembl
rs2129465361	731	A>S		No	Ensembl
rs2129465361	731	A>T		No	Ensembl
TCGA novel rs2129465357	731	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs886990256	732	D>E		No	TOPMed gnomAD
rs1131692184	733	A>G		No	gnomAD
rs2129465347 RCV001760642	733	A>T		No	ClinVar Ensembl dbSNP
TCGA novel	735	K>E	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	735	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA16618392 RCV000485321 rs1064795225	736	Y>H		No	ClinGen ClinVar Ensembl dbSNP
COSM5487274 COSM5487273	737	V>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2129465312	738	G>D		No	Ensembl
rs2129465312	738	G>V		No	Ensembl
rs373975096	739	I>M		No	ESP ExAC TOPMed gnomAD
TCGA novel	740	E>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1801822285	741	R>K		No	Ensembl
TCGA novel	742	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1801821782	743	M>T		No	Ensembl
rs1428739066	745	I>S		No	TOPMed
rs2129465275	747	P>C		No	Ensembl

1 associated diseases with Q15910

[MIM: 277590]: Weaver syndrome (WVS)

A syndrome of accelerated growth and osseous maturation, unusual craniofacial appearance, hoarse and low-pitched cry, and hypertonia with camptodactyly. Distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A syndrome of accelerated growth and osseous maturation, unusual craniofacial appearance, hoarse and low-pitched cry, and hypertonia with camptodactyly. Distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand. . Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for Q15910

Type	Name	Position	InterPro Accession
domain	Cation-transporting P-type ATPase, N-terminal	18 - 90	IPR004014
ptm	P-type ATPase, phosphorylation site	334 - 340	IPR018303
domain	P-type ATPase, haloacid dehalogenase domain	314 - 643	IPR044492

Functions

		Description
EC Number	2.1.1.356	Methyltransferases
Subcellular Localization	Nucleus	Localizes to the inactive X chromosome in trophoblast stem cells
PANTHER Family	PTHR45747	HISTONE-LYSINE N-METHYLTRANSFERASE E(Z)
PANTHER Subfamily	PTHR45747:SF3	HISTONE-LYSINE N-METHYLTRANSFERASE EZH2
PANTHER Protein Class	chromatin/chromatin-binding, or -regulatory protein histone modifying enzyme
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
chromatin silencing complex	Any protein complex that mediates changes in chromatin structure that result in transcriptional silencing.
chromosome, telomeric region	The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres).
ESC/E(Z) complex	A multimeric protein complex that can methylate lysine-27 and lysine-9 residues of histone H3. In Drosophila the core subunits of the complex include ESC, E(Z), CAF1 (NURF-55) and SU(Z)12. In mammals the core subunits of the complex include EED, EZH2, SUZ12 and RBBP4.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
pericentric heterochromatin	Heterochromatin that is located adjacent to the CENP-A rich centromere 'central core' and characterized by methylated H3 histone at lysine 9 (H3K9me2/H3K9me3).
pronucleus	The nucleus of either the ovum or the spermatozoon following fertilization. Thus, in the fertilized ovum, there are two pronuclei, one originating from the ovum, the other from the spermatozoon that brought about fertilization; they approach each other, but do not fuse until just before the first cleavage, when each pronucleus loses its membrane to release its contents.
synapse	The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.

15 GO annotations of molecular function

Name	Definition
chromatin binding	Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
chromatin DNA binding	Binding to DNA that is assembled into chromatin.
histone H3 methyltransferase activity	Catalysis of the reaction
histone H3K27 methyltransferase activity	Catalysis of the reaction
histone H3K27 trimethyltransferase activity	Catalysis of the reaction
histone methyltransferase activity	Catalysis of the reaction
lncRNA binding	Binding to a long noncoding RNA (lncRNA).
primary miRNA binding	Binding to a primary microRNA (pri-miRNA) transcript, an RNA molecule that is processed into a short hairpin-shaped structure called a pre-miRNA and finally into a functional miRNA. Both double-stranded and single-stranded regions of a pri-miRNA are required for binding.
promoter-specific chromatin binding	Binding to a section of chromatin that is associated with gene promoter sequences of DNA.
protein-lysine N-methyltransferase activity	Catalysis of the transfer of a methyl group from S-adenosyl-L-methionine to the epsilon-amino group of a lysine residue in a protein substrate.
ribonucleoprotein complex binding	Binding to a complex of RNA and protein.
RNA polymerase II cis-regulatory region sequence-specific DNA binding	Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
RNA polymerase II core promoter sequence-specific DNA binding	Binding to a DNA sequence that is part of the core promoter of a RNA polymerase II-transcribed gene.
transcription corepressor activity	A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators.
transcription corepressor binding	Binding to a transcription corepressor, a protein involved in negative regulation of transcription via protein-protein interactions with transcription factors and other proteins that negatively regulate transcription. Transcription corepressors do not bind DNA directly, but rather mediate protein-protein interactions between repressing transcription factors and the basal transcription machinery.

45 GO annotations of biological process

Name	Definition
B cell differentiation	The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity.
cardiac muscle hypertrophy in response to stress	The physiological enlargement or overgrowth of all or part of the heart muscle due to an increase in size (not length) of individual cardiac muscle fibers, without cell division, as a result of a disturbance in organismal or cellular homeostasis.
cellular response to hydrogen peroxide	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hydrogen peroxide (H2O2) stimulus.
cellular response to trichostatin A	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a trichostatin A stimulus.
cerebellar cortex development	The process whose specific outcome is the progression of the cerebellar cortex over time, from its formation to the mature structure. The cerebellar cortex is a thin mantle of gray matter that covers the surface of each cerebral hemisphere. It has a characteristic morphology with convolutions (gyri) and crevices (sulci) that have specific functions. Six layers of nerve cells and the nerve pathways that connect them comprise the cerebellar cortex. Together, these regions are responsible for the processes of conscious thought, perception, emotion and memory as well as advanced motor function.
chromatin organization	The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA.
DNA methylation	The covalent transfer of a methyl group to either N-6 of adenine or C-5 or N-4 of cytosine.
facultative heterochromatin formation	The compaction of chromatin into a conformation that is refactory to transcription but that be converted to euchromatin and allow transcription in specific contexts. These can be temporal (e.g., developmental states or specific cell-cycle stages), spatial (e.g., nuclear localization changes from the center to the periphery or vice versa due to exogenous factors/signals), or parental/heritable (e.g., monoallelic gene expression).
G1 to G0 transition	A cell cycle arrest process that results in arrest during G1 phase, whereupon the cell enters a specialized resting state known as G0 or quiescence.
G1/S transition of mitotic cell cycle	The mitotic cell cycle transition by which a cell in G1 commits to S phase. The process begins with the build up of G1 cyclin-dependent kinase (G1 CDK), resulting in the activation of transcription of G1 cyclins. The process ends with the positive feedback of the G1 cyclins on the G1 CDK which commits the cell to S phase, in which DNA replication is initiated.
hepatocyte homeostasis	Any biological process involved in the maintenance of the steady-state number of hepatocytes within a population of cells. Hepatocytes are specialized epithelial cells of the liver that are organized into interconnected plates called lobules.
heterochromatin formation	An epigenetic gene silencing mechanism in which chromatin is compacted into heterochromatin, resulting in a chromatin conformation refractory to transcription. This process starts with heterochromatin nucleation, its spreading, and ends with heterochromatin boundary formation.
hippocampus development	The progression of the hippocampus over time from its initial formation until its mature state.
keratinocyte differentiation	The process in which a relatively unspecialized cell acquires specialized features of a keratinocyte.
liver regeneration	The regrowth of lost or destroyed liver.
negative regulation of cytokine production involved in inflammatory response	Any process that stops, prevents or reduces the frequency, rate or extent of cytokine production involved in inflammatory response.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of G1/S transition of mitotic cell cycle	Any signalling pathway that decreases or inhibits the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the mitotic cell cycle.
negative regulation of gene expression, epigenetic	An epigenetic process that silences gene expression at specific genomic regions through chromatin remodelling either by modifying higher order chromatin fiber structure, nucleosomal histones, or the DNA.
negative regulation of keratinocyte differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of keratinocyte differentiation.
negative regulation of retinoic acid receptor signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of retinoic acid receptor signaling pathway activity.
negative regulation of stem cell differentiation	Any process that stops, prevents or reduces the frequency, rate or extent of stem cell differentiation.
negative regulation of striated muscle cell differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle cell differentiation.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
negative regulation of transcription elongation by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides, catalyzed by RNA polymerase II.
positive regulation of cell cycle G1/S phase transition	Any signalling pathway that activates or increases the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the cell cycle.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of dendrite development	Any process that activates or increases the frequency, rate or extent of dendrite development.
positive regulation of epithelial to mesenchymal transition	Any process that increases the rate, frequency, or extent of epithelial to mesenchymal transition. Epithelial to mesenchymal transition is where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell.
positive regulation of GTPase activity	Any process that activates or increases the activity of a GTPase.
positive regulation of MAP kinase activity	Any process that activates or increases the frequency, rate or extent of MAP kinase activity.
positive regulation of protein serine/threonine kinase activity	Any process that increases the rate, frequency, or extent of protein serine/threonine kinase activity.
protein localization to chromatin	Any process in which a protein is transported to, or maintained at, a part of a chromosome that is organized into chromatin.
protein modification process	The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification).
regulation of circadian rhythm	Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours.
regulation of DNA-templated transcription	Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
regulation of gliogenesis	Any process that modulates the frequency, rate or extent of gliogenesis, the formation of mature glia.
regulation of kidney development	Any process that modulates the rate, frequency or extent of kidney development. Kidney development is the process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and excretes the end products of body metabolism in the form of urine.
response to estradiol	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by estradiol, a C18 steroid hormone hydroxylated at C3 and C17 that acts as a potent estrogen.
response to tetrachloromethane	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tetrachloromethane stimulus.
rhythmic process	Any process pertinent to the generation and maintenance of rhythms in the physiology of an organism.
skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration	Any process by which the number of skeletal muscle satellite cells in a skeletal muscle is maintained during muscle regeneration. There are at least three mechanisms by which this is achieved. Skeletal muscle satellite stem cell asymmetric division ensures satellite stem cell numbers are kept constant. Symmetric division of these cells amplifies the number of skeletal muscle satellite stem cells. Some adult skeletal muscle myoblasts (descendants of activated satellite cells) can develop back into quiescent satellite cells, replenishing the overall pool of satellite cells.
stem cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a stem cell. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells.
subtelomeric heterochromatin formation	The compaction of chromatin into heterochromatin at the subtelomeric region.
synaptic transmission, GABAergic	The vesicular release of gamma-aminobutyric acid (GABA). from a presynapse, across a chemical synapse, the subsequent activation of GABA receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse.

8 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A7E2Z2	EZH1	Histone-lysine N-methyltransferase EZH1	Bos taurus (Bovine)	SS
P42124	E(z)	Histone-lysine N-methyltransferase E	Drosophila melanogaster (Fruit fly)	SS
Q92800	EZH1	Histone-lysine N-methyltransferase EZH1	Homo sapiens (Human)	SS
P70351	Ezh1	Histone-lysine N-methyltransferase EZH1	Mus musculus (Mouse)	SS
Q61188	Ezh2	Histone-lysine N-methyltransferase EZH2	Mus musculus (Mouse)	SS
O65312	MEA	Histone-lysine N-methyltransferase MEDEA	Arabidopsis thaliana (Mouse-ear cress)	PR
Q28D84	ezh2	Histone-lysine N-methyltransferase EZH2	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	SS
Q08BS4	ezh2	Histone-lysine N-methyltransferase EZH2	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MGQTGKKSEK	GPVCWRKRVK	SEYMRLRQLK	RFRRADEVKS	MFSSNRQKIL	ERTEILNQEW
70	80	90	100	110	120
KQRRIQPVHI	LTSVSSLRGT	RECSVTSDLD	FPTQVIPLKT	LNAVASVPIM	YSWSPLQQNF
130	140	150	160	170	180
MVEDETVLHN	IPYMGDEVLD	QDGTFIEELI	KNYDGKVHGD	RECGFINDEI	FVELVNALGQ
190	200	210	220	230	240
YNDDDDDDDG	DDPEEREEKQ	KDLEDHRDDK	ESRPPRKFPS	DKIFEAISSM	FPDKGTAEEL
250	260	270	280	290	300
KEKYKELTEQ	QLPGALPPEC	TPNIDGPNAK	SVQREQSLHS	FHTLFCRRCF	KYDCFLHPFH
310	320	330	340	350	360
ATPNTYKRKN	TETALDNKPC	GPQCYQHLEG	AKEFAAALTA	ERIKTPPKRP	GGRRRGRLPN
370	380	390	400	410	420
NSSRPSTPTI	NVLESKDTDS	DREAGTETGG	ENNDKEEEEK	KDETSSSSEA	NSRCQTPIKM
430	440	450	460	470	480
KPNIEPPENV	EWSGAEASMF	RVLIGTYYDN	FCAIARLIGT	KTCRQVYEFR	VKESSIIAPA
490	500	510	520	530	540
PAEDVDTPPR	KKKRKHRLWA	AHCRKIQLKK	DGSSNHVYNY	QPCDHPRQPC	DSSCPCVIAQ
550	560	570	580	590	600
NFCEKFCQCS	SECQNRFPGC	RCKAQCNTKQ	CPCYLAVREC	DPDLCLTCGA	ADHWDSKNVS
610	620	630	640	650	660
CKNCSIQRGS	KKHLLLAPSD	VAGWGIFIKD	PVQKNEFISE	YCGEIISQDE	ADRRGKVYDK
670	680	690	700	710	720
YMCSFLFNLN	NDFVVDATRK	GNKIRFANHS	VNPNCYAKVM	MVNGDHRIGI	FAKRAIQTGE
730	740
ELFFDYRYSQ	ADALKYVGIE	REMEIP