AiPD: Autoinhibited Protein Database

Q14149

Gene name	MORC3 (KIAA0136, NXP2, ZCWCC3)
Protein name	MORC family CW-type zinc finger protein 3
Names	Nuclear matrix protein 2 , Zinc finger CW-type coiled-coil domain protein 3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23515
EC number
Protein Class	ZINC FINGER CW-TYPE COILED-COIL DOMAIN PROTEIN 3. (PTHR23336)

Descriptions

Microrchidia 3 is a human protein linked to autoimmune disorders, Down syndrome, and cancer. The extensive ATPase:CW interface stabilizes the protein fold and inhibits the catalytic activity of MORC3. The CW domain sterically impedes binding of the ATPase domain to DNA. MORC3 autoinhibition is released by disrupting the intramolecular ATPase:DW coupling through the competitive interaction of CW with histone H3 tail. Binding of CW to H3 leads to a marked rearrangement in the ATPase-CW cassette, which frees the DNA-binding site in active MORC3.

Autoinhibitory domains (AIDs)

Target domain	17-290 (C-terminal ATPase domain)
Relief mechanism	Partner binding
Assay	Deletion assay, Mutagenesis experiment, Structural analysis, Peptide inhibitor test

AID

404-454 (CW domain)

Target domain

17-290 (C-terminal ATPase domain)

Relief mechanism

Partner binding (Binding of CW domain to histone H3 tail)

Assay

Deletion assay, Mutagenesis experiment, Structural analysis, Peptide inhibitor test

Accessory elements

No accessory elements

References

Zhang Y et al. (2019) "Mechanism for autoinhibition and activation of the MORC3 ATPase", Proceedings of the National Academy of Sciences of the United States of America, 116, 6111-6119

Zhang Y et al. (2019) "MORC3 Is a Target of the Influenza A Viral Protein NS1", Structure (London, England : 1993), 27, 1029-1033.e3

Zhang Y et al. (2019) "MORC3 Forms Nuclear Condensates through Phase Separation", iScience, 17, 182-189

Autoinhibited structure

Activated structure

7 structures for Q14149

Entry ID	Method	Resolution	Chain	Position	Source
4QQ4	X-ray	175 A	A/B	400-460	PDB
5SVI	X-ray	161 A	A	407-453	PDB
5SVX	X-ray	156 A	A	407-454	PDB
5SVY	X-ray	105 A	A	407-455	PDB
6O1E	X-ray	241 A	A	1-455	PDB
6O5W	X-ray	141 A	A	407-455	PDB
AF-Q14149-F1	Predicted				AlphaFoldDB

737 variants for Q14149

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1359022713	2	A>E		No	TOPMed gnomAD
rs1359022713	2	A>V		No	TOPMed gnomAD
rs1246416770	3	A>G		No	gnomAD
rs763001687	4	Q>K		No	ExAC TOPMed gnomAD
rs766336346	5	P>S		No	ExAC gnomAD
rs202025634	6	P>A		No	1000Genomes ExAC TOPMed gnomAD
rs754800946	6	P>H		No	ExAC TOPMed gnomAD
rs754800946	6	P>L		No	ExAC TOPMed gnomAD
rs754800946	6	P>R		No	ExAC TOPMed gnomAD
rs202025634	6	P>T		No	1000Genomes ExAC TOPMed gnomAD
rs767374483	7	R>C		No	ExAC gnomAD
rs767374483	7	R>G		No	ExAC gnomAD
rs752572932	7	R>H		No	ExAC gnomAD
rs752572932	7	R>L		No	ExAC gnomAD
rs752572932	7	R>P		No	ExAC gnomAD
rs767374483	7	R>S		No	ExAC gnomAD
COSM1193209 rs777346347	8	G>E	lung [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs1416493183	8	G>R		No	gnomAD
rs777346347	8	G>V		No	ExAC TOPMed gnomAD
rs2236433	9	I>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs748823875	9	I>T		No	ExAC gnomAD
rs1453744472	12	S>C		No	gnomAD
rs1359539143	13	A>T		No	gnomAD
TCGA novel	15	C>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1228080816	27	T>S		No	TOPMed
rs1569090551	31	S>G		No	Ensembl
rs770096569	34	A>T		No	ExAC gnomAD
rs377075882	35	E>D		No	ESP ExAC
COSM1030520	35	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1445937184	37	I>V		No	TOPMed gnomAD
COSM1030521	38	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2085380919	40	A>V		No	TOPMed
rs2085380991	45	V>M		No	TOPMed
rs2085381057	48	K>E		No	Ensembl
rs2085381082	50	I>M		No	TOPMed
rs989887666	54	K>E		No	TOPMed gnomAD
rs989887666	54	K>Q		No	TOPMed gnomAD
rs955940708	54	K>R		No	TOPMed
TCGA novel	55	T>Q	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM3668522 rs915327134	60	H>R	liver Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1569092341	61	I>M		No	Ensembl
rs761727278	61	I>V		No	ExAC gnomAD
rs764867040	64	T>I		No	ExAC TOPMed gnomAD
rs1271520117	67	D>N		No	gnomAD
rs1439256736	68	N>S		No	TOPMed
TCGA novel	69	G>D	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	71	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs765830959	72	M>T		No	ExAC gnomAD
rs751116347	74	S>Y		No	ExAC gnomAD
rs779176246	75	D>G		No	Ensembl
rs1184078464	75	D>H		No	TOPMed
rs2085390173	88	K>E		No	Ensembl
rs939132522	90	T>I		No	Ensembl
rs2085390277	91	M>V		No	TOPMed
rs2085390304	93	G>R		No	TOPMed
rs2085390304	93	G>S		No	TOPMed
TCGA novel	95	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs370616843	95	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1403944766	97	V>F		No	gnomAD
rs2085390514	100	Y>C		No	TOPMed
COSM1030522 rs2085390581	106	S>L	endometrium [Cosmic]	No	cosmic curated Ensembl
TCGA novel	108	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	109	M>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1010751881	109	M>V		No	Ensembl
TCGA novel	110	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM162542 rs1942766123	110	R>H	large_intestine breast [Cosmic]	No	cosmic curated TOPMed
rs372230140	114	D>E		No	ESP ExAC TOPMed gnomAD
rs2085390817	114	D>N		No	TOPMed
rs374917169	115	A>G		No	ESP TOPMed gnomAD
rs773678802	115	A>S		No	ExAC TOPMed gnomAD
rs773678802 COSM5392876	115	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1426696885	116	I>V		No	TOPMed
rs754415398 COSM4101470	117	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs754415398	117	V>L		No	ExAC TOPMed gnomAD
rs757858276	121	N>K		No	ExAC TOPMed gnomAD
rs1484385964	121	N>S		No	gnomAD
rs2085391272	124	S>G		No	Ensembl
rs530341313	124	S>R		No	1000Genomes ExAC gnomAD
rs758632944	127	V>M		No	ExAC TOPMed gnomAD
rs371655091	129	L>V		No	ESP ExAC TOPMed gnomAD
COSM419243	132	Q>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs955426809	133	T>I		No	Ensembl
rs955426809	133	T>N		No	Ensembl
rs2085391596	134	Y>C		No	gnomAD
rs62229399	136	E>K		No	Ensembl
rs1335600860	137	V>L		No	TOPMed gnomAD
rs1479801343	140	A>T		No	gnomAD
rs752464236	140	A>V		No	TOPMed gnomAD
rs1451262326	142	H>Q		No	TOPMed gnomAD
rs2085391887	142	H>R		No	TOPMed
rs1378972694	142	H>Y		No	gnomAD
rs2085391983	143	V>I		No	gnomAD
rs755127360	144	V>I		No	ExAC TOPMed gnomAD
rs201006549	145	V>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs2085392207	147	I>M		No	gnomAD
rs1401000555	147	I>T		No	gnomAD
rs780970385	147	I>V		No	ExAC TOPMed gnomAD
rs1569092920	148	V>A		No	Ensembl
rs562481044	151	N>S		No	1000Genomes ExAC TOPMed gnomAD
rs769756884	152	K>R		No	ExAC TOPMed gnomAD
rs772928832	153	H>D		No	ExAC TOPMed gnomAD
rs749097378	153	H>L		No	ExAC gnomAD
rs2085392432	153	H>Q		No	TOPMed
rs772928832	153	H>Y		No	ExAC TOPMed gnomAD
rs755992359	154	R>Q		No	ExAC TOPMed gnomAD
rs1479350999	155	Q>R		No	gnomAD
rs2085402492	156	M>V		No	TOPMed
rs2085402537	157	I>V		No	Ensembl
rs143493876	158	N>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs200315591	159	L>S		No	Ensembl
rs1238388493	159	L>V		No	gnomAD
rs2085402744	160	A>T		No	gnomAD
rs2085402787	160	A>V		No	TOPMed
rs2085402900	164	A>T		No	TOPMed
rs2146300907	165	S>I		No	Ensembl
TCGA novel	167	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1383834775	168	A>S		No	TOPMed gnomAD
rs1569093459	168	A>V		No	Ensembl
rs568950052	169	I>M		No	TOPMed gnomAD
rs749080994	169	I>V		No	ExAC TOPMed gnomAD
rs774035828	171	E>G		No	ExAC gnomAD
rs774035828	171	E>V		No	ExAC gnomAD
rs745490117	172	H>Y		No	ExAC gnomAD
rs2085403322	173	S>A		No	Ensembl
rs2085403399	173	S>C		No	Ensembl
rs1330822198	174	L>P		No	gnomAD
rs373463099	174	L>V		No	ESP TOPMed
rs895798499	177	T>A		No	TOPMed gnomAD
rs779667536	177	T>K		No	ExAC TOPMed gnomAD
rs779667536	177	T>M		No	ExAC TOPMed gnomAD
rs1381689971	178	E>D		No	gnomAD
COSM1030523	180	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1314719826	184	E>D		No	TOPMed gnomAD
TCGA novel	186	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1569093527	186	D>N		No	Ensembl
COSM6094676 rs2085404022 COSM579242	188	I>V	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic TOPMed
rs375678739	189	I>V		No	ESP ExAC TOPMed gnomAD
COSM271396	190	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1203175919	190	G>S		No	gnomAD
rs1569093565	191	K>E		No	Ensembl
rs1041755150 COSM276095	191	K>N	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed gnomAD
rs1458803310	194	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
COSM725205 rs2146301054	194	T>M	lung skin [Cosmic]	No	cosmic curated Ensembl
COSM1030524	195	R>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs766718951	196	I>F		No	ExAC
COSM1030525	202	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1298688142	203	S>R		No	gnomAD
COSM1030527	204	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1342313905	205	K>R		No	TOPMed gnomAD
rs752960540	207	A>E		No	ExAC gnomAD
rs752960540	207	A>V		No	ExAC gnomAD
rs2085444159	208	T>I		No	TOPMed gnomAD
COSM1030528	209	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs764114748	210	F>C		No	ExAC gnomAD
rs757157841	211	D>N		No	ExAC gnomAD
rs1706470093	212	F>Y		No	TOPMed
COSM6161353	223	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs201710158	223	E>D		No	1000Genomes ExAC gnomAD
COSM1030529 rs1162450733	223	E>K	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs536208049	226	D>G		No	Ensembl
rs951848039	227	E>K		No	TOPMed gnomAD
rs768456268	228	I>V		No	ExAC TOPMed gnomAD
rs2085444963	231	K>R		No	Ensembl
rs1422739782	232	K>N		No	TOPMed gnomAD
rs747627449	232	K>R		No	ExAC gnomAD
rs1427659382	233	G>R		No	TOPMed
rs774791584	234	Y>F		No	ExAC gnomAD
rs1262194619	237	Q>K		No	TOPMed gnomAD
rs1025660502	238	E>D		No	TOPMed gnomAD
rs971049010	241	D>E		No	Ensembl
rs530766174	242	Q>H		No	1000Genomes ExAC TOPMed gnomAD
rs2085445401	243	I>T		No	gnomAD
rs1375758410	244	A>S		No	gnomAD
rs2085445483	244	A>V		No	TOPMed
rs2085445638	246	E>Q		No	Ensembl
rs1291123558	247	S>N		No	TOPMed
rs1223390345	248	D>N		No	TOPMed gnomAD
rs753654013	249	Y>C		No	TOPMed gnomAD
rs753654013	249	Y>S		No	TOPMed gnomAD
rs2085445977	252	R>S		No	TOPMed
rs2085487339	256	S>G		No	TOPMed
rs2085487366	258	L>S		No	TOPMed gnomAD
rs2085487396	259	Y>H		No	TOPMed
rs1174873299	264	M>I		No	TOPMed
rs368469915	264	M>V		No	ESP ExAC TOPMed gnomAD
TCGA novel	265	Q>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs761369449	266	I>V		No	ExAC
rs2085487642	267	I>V		No	Ensembl
rs765183098	269	R>C		No	ExAC TOPMed gnomAD
COSM3423941 rs1465698426	269	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1465698426	269	R>L		No	TOPMed gnomAD
rs2146308627	276	Q>*		No	Ensembl
rs767138369	279	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs2085488131	281	S>N		No	TOPMed
rs375520352	281	S>R		No	ESP ExAC TOPMed gnomAD
rs2085488250	284	Y>H		No	gnomAD
rs754890383	285	I>V		No	ExAC TOPMed gnomAD
TCGA novel	286	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1219352208	287	R>C		No	gnomAD
rs2085488480	287	R>H		No	TOPMed
rs755818638	289	V>I		No	ExAC gnomAD
rs369921814	290	Y>*		No	ESP ExAC TOPMed gnomAD
rs1238076125	291	R>*		No	Ensembl
COSM262054 rs2146308696	291	R>Q	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
COSM1413995	293	K>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2085491182	296	S>P		No	gnomAD
rs957467137	298	T>A		No	TOPMed gnomAD
rs2085491281	300	R>G		No	Ensembl
TCGA novel	301	I>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs990266874	305	F>L		No	TOPMed gnomAD
TCGA novel	308	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs921456986	309	N>D		No	Ensembl
rs2085491577	309	N>K		No	TOPMed
rs1420894768	309	N>S		No	gnomAD
rs2085491702	312	H>R		No	TOPMed
rs1416730179	312	H>Y		No	TOPMed
rs760183242	313	Y>C		No	1000Genomes ExAC TOPMed gnomAD
rs760183242	313	Y>F		No	1000Genomes ExAC TOPMed gnomAD
rs1333099813	315	I>L		No	gnomAD
rs2085491942	315	I>M		No	TOPMed
TCGA novel	320	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2085492052	321	N>S		No	Ensembl
TCGA novel	322	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2146309056	324	I>T		No	1000Genomes
rs2146309063	331	G>R		No	Ensembl
rs2085492197	332	C>Y		No	TOPMed gnomAD
rs932902455	335	R>K		No	TOPMed
COSM6161352	336	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs763620724	337	N>D		No	ExAC gnomAD
rs2085546435	339	M>K		No	Ensembl
rs1244876526	339	M>V		No	gnomAD
rs2085546591	343	V>L		No	Ensembl
rs1212921378	353	K>R		No	TOPMed
rs1238437401	357	N>D		No	gnomAD
rs2085546815	358	K>*		No	gnomAD
rs1412229017	363	Y>C		No	gnomAD
rs1179372404	363	Y>H		No	gnomAD
rs540718270	364	T>A		No	1000Genomes TOPMed gnomAD
COSM3799885	364	T>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs896465731	371	I>T		No	Ensembl
COSM4101472 rs1398819743	373	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
COSM262055	376	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2085648974	379	N>S		No	TOPMed gnomAD
rs2085649062	382	W>*		No	Ensembl
COSM4844789	385	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs777871401	386	K>R		No	Ensembl
rs1217060289	387	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs2085649217	388	K>T		No	TOPMed
rs1601531711	390	N>D		No	TOPMed gnomAD
rs1277485495	390	N>S		No	gnomAD
rs2146324153	393	Y>F		No	Ensembl
rs867242029	398	P>A		No	gnomAD
rs867242029	398	P>S		No	gnomAD
rs761387675	399	V>A		No	ExAC TOPMed gnomAD
rs1465134661	402	I>L		No	TOPMed
rs1401222136	402	I>M		No	TOPMed gnomAD
rs1601531737	402	I>T		No	TOPMed
rs745902580	403	Q>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs758552820 COSM1190349	405	R>C	lung [Cosmic]	No	cosmic curated ExAC gnomAD
COSM1413996 rs780018142	405	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs780018142	405	R>L		No	ExAC TOPMed gnomAD
rs1219523697	407	D>H		No	gnomAD
rs1196393604	409	T>A		No	gnomAD
rs1488969674	414	D>A		No	gnomAD
rs369879102	416	C>R		No	ESP ExAC TOPMed gnomAD
rs574366083	418	K>N		No	1000Genomes
COSM245749	420	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1159140572	422	L>V		No	TOPMed gnomAD
rs2085694953	423	P>S		No	Ensembl
rs80252070	425	G>R		No	Ensembl
rs1480490816	426	M>I		No	TOPMed gnomAD
rs2085695149	426	M>L		No	TOPMed gnomAD
rs192090360	428	Q>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs866683373	431	E>D		No	TOPMed
rs761181647	433	W>*		No	ExAC gnomAD
rs761181647	433	W>C		No	ExAC gnomAD
rs1356236791	436	S>F		No	TOPMed
rs1442578776	436	S>P		No	gnomAD
rs1328876086	437	N>S		No	TOPMed gnomAD
rs2085695604	439	P>L		No	Ensembl
rs770498932	445	N>K		No	ExAC gnomAD
rs2085697124	446	C>Y		No	TOPMed
rs1256376369	447	E>D		No	gnomAD
rs2085697167	447	E>G		No	TOPMed
rs773893905	450	E>G		No	ExAC gnomAD
rs759031679	453	E>A		No	ExAC gnomAD
rs769252595	454	D>N		No	ExAC gnomAD
rs1186701274	454	D>V		No	gnomAD
rs2085697473	455	E>V		No	TOPMed
rs1258163614	460	P>L		No	gnomAD
rs762431255	463	E>V		No	ExAC
TCGA novel	465	T>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs750756739	466	Y>C		No	ExAC gnomAD
rs2085697852	467	K>E		No	TOPMed gnomAD
rs201094724	469	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs201094724	469	T>S		No	1000Genomes ExAC TOPMed gnomAD
rs778992288	474	F>I		No	Ensembl
rs921202078	474	F>L		No	TOPMed gnomAD
rs2085724993	475	R>T		No	Ensembl
rs1601536267	475	R>W		No	Ensembl
rs1027660341	477	R>K		No	Ensembl
rs1027660341	477	R>T		No	Ensembl
rs759764759	478	Q>E		No	ExAC TOPMed gnomAD
COSM1413997 rs541408590	479	P>L	large_intestine [Cosmic]	No	cosmic curated 1000Genomes ExAC gnomAD
rs541408590	479	P>R		No	1000Genomes ExAC gnomAD
rs141637413	481	M>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs753667181	484	R>L		No	ExAC TOPMed gnomAD
rs753667181	484	R>Q		No	ExAC TOPMed gnomAD
rs763982889	484	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1555909347	485	I>M		No	Ensembl
rs1444275719	485	I>V		No	gnomAD
rs758101887	486	N>D		No	ExAC gnomAD
rs199815221	486	N>I		No	ExAC TOPMed gnomAD
rs199815221	486	N>S		No	ExAC TOPMed gnomAD
rs754503782	487	A>T		No	ExAC gnomAD
rs1274628935	492	R>L		No	TOPMed gnomAD
rs1274628935 COSM478562	492	R>Q	kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1233418653	492	R>W		No	TOPMed gnomAD
rs771497153	493	P>L		No	ExAC gnomAD
rs190839811	494	T>A		No	1000Genomes ExAC TOPMed gnomAD
rs1481165354	494	T>I		No	TOPMed gnomAD
rs1481165354	494	T>S		No	TOPMed gnomAD
rs1397568900	495	A>G		No	gnomAD
rs1179424527	496	L>V		No	gnomAD
COSM4909530	497	S>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1811960811	497	S>P		No	TOPMed
rs1254715800	498	T>A		No	TOPMed gnomAD
rs746275842	498	T>N		No	ExAC gnomAD
rs1254715800	498	T>P		No	TOPMed gnomAD
rs1420289409	500	S>G		No	gnomAD
rs1354834314	502	S>P		No	gnomAD
rs2085751824	503	S>F		No	TOPMed gnomAD
rs1555909359	503	S>P		No	Ensembl
rs182300552	504	P>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs745791401 COSM1413998	504	P>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs182300552	504	P>A		No	1000Genomes ESP ExAC TOPMed gnomAD
rs776805378	505	K>E		No	ExAC gnomAD
rs372637882	506	E>G		No	ESP ExAC TOPMed gnomAD
rs765269483	510	R>I		No	ExAC gnomAD
rs2146333845	511	R>G		No	Ensembl
rs2085752220	511	R>S		No	Ensembl
rs1426196190	511	R>T		No	TOPMed
rs762907752	512	H>L		No	ExAC TOPMed gnomAD
rs1308401466	512	H>Q		No	gnomAD
rs762907752	512	H>R		No	ExAC TOPMed gnomAD
rs377444374	512	H>Y		No	ESP ExAC TOPMed gnomAD
rs1254741307	513	L>R		No	TOPMed gnomAD
rs1207127512	513	L>V		No	TOPMed gnomAD
rs1569107139	516	G>A		No	Ensembl
rs1198872950	517	T>I		No	TOPMed gnomAD
rs766116087	518	N>S		No	ExAC gnomAD
rs751197224	519	S>F		No	ExAC gnomAD
rs751197224	519	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
TCGA novel	520	Y>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2085752749	520	Y>S		No	Ensembl
rs1420553037	521	A>E		No	TOPMed gnomAD
rs1186110279	521	A>T		No	TOPMed gnomAD
rs1420553037	521	A>V		No	TOPMed gnomAD
rs781335107	523	R>T		No	ExAC gnomAD
rs200457938	525	L>P		No	1000Genomes ExAC TOPMed gnomAD
TCGA novel	525	L>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs369966004	526	N>T		No	ESP ExAC TOPMed gnomAD
rs1359836743	528	H>L		No	Ensembl
rs1359836743	528	H>R		No	Ensembl
rs2146333955	531	P>S		No	Ensembl
rs772368857	532	P>H		No	ExAC TOPMed gnomAD
rs772368857	532	P>R		No	ExAC TOPMed gnomAD
TCGA novel	532	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM71674	533	Q>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1275513952 COSM245750	533	Q>H	prostate [Cosmic]	No	cosmic curated TOPMed
rs2085753290	534	S>F		No	TOPMed
TCGA novel	534	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs567404717	537	E>D		No	1000Genomes ExAC TOPMed gnomAD
rs747161481	538	S>G		No	ExAC gnomAD
rs374082185	539	N>S		No	ESP ExAC TOPMed gnomAD
rs2085753462	540	S>N		No	Ensembl
rs199519023	540	S>R		No	1000Genomes ExAC TOPMed gnomAD
rs780350030	546	S>A		No	ExAC gnomAD
rs747451090	546	S>C		No	ExAC TOPMed gnomAD
rs747451090	546	S>F		No	ExAC TOPMed gnomAD
rs373969432	547	T>A		No	ESP ExAC TOPMed gnomAD
rs200106421	548	R>C		No	ESP ExAC TOPMed gnomAD
rs200106421	548	R>G		No	ESP ExAC TOPMed gnomAD
rs748162865	548	R>H		No	ExAC TOPMed gnomAD
COSM579240 rs748162865	548	R>L	lung [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs748162865	548	R>P		No	ExAC TOPMed gnomAD
rs1182032939	549	S>C		No	TOPMed gnomAD
rs1182032939	549	S>Y		No	TOPMed gnomAD
rs773428713	551	I>S		No	ExAC TOPMed gnomAD
rs773428713	551	I>T		No	ExAC TOPMed gnomAD
rs1199083429	552	L>V		No	TOPMed gnomAD
COSM2155300 rs2085815815	553	N>S	Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
COSM1414000	555	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs771013022	556	N>I		No	ExAC gnomAD
TCGA novel	556	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1482112397	556	N>Y		No	TOPMed gnomAD
rs199855056	557	R>Q		No	ExAC TOPMed gnomAD
rs773991457	557	R>W		No	ExAC gnomAD
rs767068699	558	R>K		No	ExAC gnomAD
rs1325008920	559	L>W		No	TOPMed gnomAD
rs775154863	560	S>N		No	ExAC gnomAD
rs775154863	560	S>T		No	ExAC gnomAD
rs1163701286	561	S>C		No	gnomAD
rs928304218	561	S>N		No	TOPMed gnomAD
COSM6094674	562	Q>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1462289094	563	F>C		No	gnomAD
COSM4838303	566	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1328412089	567	V>A		No	TOPMed gnomAD
rs753371900	568	Y>C		No	ExAC TOPMed gnomAD
rs753371900	568	Y>F		No	ExAC TOPMed gnomAD
COSM3423942	569	K>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1280675368	569	K>N		No	gnomAD
TCGA novel	570	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs373727187	571	D>G		No	ESP ExAC TOPMed gnomAD
rs1231580289	571	D>N		No	gnomAD
rs751865977	572	D>E		No	ExAC gnomAD
rs2085817207	572	D>G		No	TOPMed
COSM3799886	573	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs755429632	574	D>E		No	ExAC TOPMed gnomAD
rs1569109311	574	D>H		No	Ensembl
COSM3550539	576	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs914363866	578	I>V		No	TOPMed
rs2085817644	581	E>K		No	Ensembl
COSM1030530	582	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs185691798	583	N>D		No	1000Genomes ExAC TOPMed gnomAD
rs1471511895	583	N>S		No	gnomAD
rs1159087897	584	S>C		No	TOPMed
TCGA novel	585	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1470833849	585	T>N		No	TOPMed
rs2085818148	586	P>A		No	TOPMed
rs1601541595	587	K>R		No	Ensembl
rs2085818292	589	A>S		No	Ensembl
rs2085818292	589	A>T		No	Ensembl
rs945488440	591	D>E		No	Ensembl
rs2085818426	592	H>L		No	gnomAD
rs2085818390	592	H>N		No	TOPMed
rs749425424	594	I>T		No	ExAC TOPMed gnomAD
rs1168094098	595	D>V		No	gnomAD
COSM4702898	596	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1601541611	596	M>V		No	Ensembl
rs371203334	598	S>P		No	ESP ExAC TOPMed gnomAD
COSM6161351	599	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs745810605	600	Q>E		No	ExAC TOPMed gnomAD
rs374269462	601	S>R		No	ESP ExAC TOPMed gnomAD
rs200722484	602	H>Q		No	1000Genomes ExAC TOPMed gnomAD
rs889632633	603	V>A		No	gnomAD
rs545559328	603	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs760275450	606	G>D		No	ExAC gnomAD
rs2146340282	607	G>A		No	Ensembl
rs777854842	607	G>R		No	TOPMed gnomAD
rs904095562	608	V>I		No	TOPMed
rs776090858	609	Q>R		No	ExAC TOPMed gnomAD
rs1275018929	610	V>D		No	gnomAD
rs761379498	610	V>I		No	ExAC TOPMed gnomAD
rs1386706990	611	E>K		No	TOPMed
rs2146340316	612	F>L		No	Ensembl
rs1210088252	614	G>A		No	TOPMed gnomAD
COSM419242	615	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs752046382	616	S>G		No	ExAC TOPMed gnomAD
rs1387841395	620	G>D		No	Ensembl
rs1475272393 COSM124483	625	T>I	upper_aerodigestive_tract [Cosmic]	No	cosmic curated gnomAD
rs755444979	625	T>S		No	ExAC gnomAD
rs2085820467	626	S>N		No	Ensembl
rs767882176	626	S>R		No	ExAC TOPMed gnomAD
rs2146340370	627	T>I		No	Ensembl
COSM4390773	629	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1433341083	629	S>P		No	gnomAD
rs778178127	630	S>F		No	ExAC TOPMed gnomAD
rs368474624	630	S>P		No	ESP ExAC TOPMed gnomAD
rs2085820863	631	R>*		No	Ensembl
rs371940355	631	R>Q		No	ESP ExAC TOPMed gnomAD
rs1227868486	633	D>N		No	TOPMed gnomAD
rs529199394	637	T>I		No	1000Genomes ExAC TOPMed gnomAD
rs529199394	637	T>S		No	1000Genomes ExAC TOPMed gnomAD
rs2085821469	641	Q>*		No	TOPMed gnomAD
rs200014360	644	V>G		No	1000Genomes ExAC gnomAD
rs1251356324	644	V>I		No	gnomAD
rs1194898409	645	P>Q		No	gnomAD
rs2085821875	645	P>S		No	TOPMed
rs2085821968	646	S>T		No	Ensembl
rs776323179	647	L>F		No	ExAC TOPMed gnomAD
rs761468879	648	V>I		No	ExAC gnomAD
rs761468879	648	V>L		No	ExAC gnomAD
TCGA novel	652	E>K	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2085822400	653	E>G		No	gnomAD
rs769280395	654	T>A		No	ExAC TOPMed gnomAD
rs772628051 COSM4101473	657	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs146827437	658	E>D		No	1000Genomes ESP ExAC TOPMed gnomAD
rs201575490	658	E>K		No	1000Genomes ExAC TOPMed gnomAD
rs761186510	660	D>E		No	ExAC TOPMed gnomAD
rs2085822998	661	V>E		No	TOPMed
rs770659896	661	V>I		No	TOPMed gnomAD
rs770659896	661	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs764395098	662	R>G		No	ExAC gnomAD
rs1601541811	663	N>S		No	Ensembl
rs754050554	664	D>H		No	ExAC TOPMed gnomAD
rs754050554	664	D>N		No	ExAC TOPMed gnomAD
rs779005026	665	A>T		No	ExAC TOPMed gnomAD
rs750520648	667	I>N		No	ExAC gnomAD
rs1259571503	667	I>V		No	TOPMed gnomAD
rs1250780948	669	P>H		No	gnomAD
rs551589749	669	P>S		No	1000Genomes ExAC gnomAD
rs1809447376	670	S>A		No	TOPMed
rs1322151980	671	C>F		No	TOPMed
rs1467402094	671	C>R		No	gnomAD
rs781132949	672	V>I		No	gnomAD
rs1424521965	674	A>T		No	TOPMed gnomAD
rs2146340637	676	A>G		No	Ensembl
rs746794615	677	K>N		No	ExAC TOPMed gnomAD
rs780034917	677	K>T		No	ExAC gnomAD
rs2085824138	678	I>T		No	TOPMed gnomAD
rs768382267	678	I>V		No	ExAC gnomAD
rs1454390089	679	H>R		No	gnomAD
rs2146340659	679	H>Y		No	Ensembl
rs1601541862	681	T>P		No	Ensembl
rs1392603532	682	Q>L		No	gnomAD
rs1392603532	682	Q>P		No	gnomAD
TCGA novel	683	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1601541874	684	T>P		No	Ensembl
rs747758969	685	T>A		No	ExAC gnomAD
rs1023103277	686	D>G		No	TOPMed gnomAD
rs1033673939	686	D>N		No	TOPMed gnomAD
rs2085824674	687	K>R		No	TOPMed
rs772755533	688	S>A		No	ExAC gnomAD
COSM3799887	688	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1240625418	689	A>S		No	gnomAD
rs959607556	689	A>V		No	TOPMed gnomAD
rs772625103	690	D>G		No	ExAC gnomAD
rs1196113110	691	D>G		No	TOPMed gnomAD
rs2085825171	691	D>H		No	TOPMed
rs1569109816	692	A>T		No	Ensembl
rs1333789045	692	A>V		No	gnomAD
rs571479967	693	G>D		No	1000Genomes ExAC TOPMed gnomAD
rs761274485	693	G>S		No	ExAC TOPMed gnomAD
rs754281532	694	C>R		No	ExAC gnomAD
rs534139665	694	C>S		No	1000Genomes ExAC gnomAD
COSM6161349	695	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2085826004	697	Q>E		No	Ensembl
rs1341580924	700	R>K		No	TOPMed
rs1447104555	701	N>S		No	gnomAD
COSM4101475	703	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1273215858	704	L>H		No	TOPMed
COSM3912066	705	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs371716354	706	V>L		No	ESP ExAC TOPMed gnomAD
TCGA novel	707	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs758468411	707	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs2085826901	713	Y>S		No	TOPMed
rs1569109900	714	K>E		No	Ensembl
COSM4101476	714	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1569109900	714	K>Q		No	Ensembl
rs754939548	716	Q>E		No	ExAC gnomAD
rs745842873	716	Q>H		No	TOPMed
rs978252643	716	Q>L		No	Ensembl
rs553980402	717	C>Y		No	1000Genomes ExAC gnomAD
rs375039041	718	H>L		No	ESP ExAC TOPMed gnomAD
rs375039041	718	H>P		No	ESP ExAC TOPMed gnomAD
rs375039041	718	H>R		No	ESP ExAC TOPMed gnomAD
rs754455687	718	H>Y		No	Ensembl
rs2085827808	719	M>I		No	Ensembl
rs2085827746	719	M>R		No	TOPMed
rs1290971156	719	M>V		No	gnomAD
rs1050400752	720	F>S		No	Ensembl
rs1410237483	721	T>I		No	TOPMed
rs777353255	723	Q>E		No	ExAC gnomAD
rs2146340926	726	V>M		No	Ensembl
rs1294766859	727	L>F		No	gnomAD
rs1323852214	728	Q>R		No	gnomAD
COSM1030531	733	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1279479642	735	N>D		No	gnomAD
rs1421197234	735	N>S		No	TOPMed gnomAD
rs1202913948	736	D>G		No	TOPMed gnomAD
rs1479813546	738	Y>*		No	TOPMed gnomAD
rs1448613337	738	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs774033181	738	Y>H		No	ExAC gnomAD
rs2085828927	739	V>A		No	TOPMed gnomAD
rs769338536	740	K>N		No	ExAC gnomAD
TCGA novel	742	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1485404209	743	T>A		No	gnomAD
rs769693996	743	T>I		No	ExAC gnomAD
rs942992119	745	H>Q		No	TOPMed gnomAD
rs765486108	745	H>Y		No	ExAC gnomAD
rs2085829547	746	Q>*		No	TOPMed
rs1426490079	747	S>C		No	TOPMed gnomAD
rs1426490079	747	S>F		No	TOPMed gnomAD
rs1426490079	747	S>Y		No	TOPMed gnomAD
rs190267504	748	T>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2085829875	751	D>N		No	gnomAD
rs766404739	752	A>D		No	ExAC TOPMed gnomAD
rs766404739	752	A>V		No	ExAC TOPMed gnomAD
rs1276739336	753	V>L		No	TOPMed
rs61739929	755	L>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs754885572	758	S>G		No	ExAC TOPMed gnomAD
rs767481972	758	S>N		No	ExAC
TCGA novel	758	S>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs752528953	759	I>V		No	ExAC TOPMed gnomAD
rs755917788	760	N>H		No	ExAC TOPMed gnomAD
TCGA novel	760	N>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1213162959	762	K>E		No	TOPMed gnomAD
rs2085830728	763	S>C		No	Ensembl
rs748822837	764	E>G		No	ExAC TOPMed gnomAD
rs2085830875	765	S>I		No	Ensembl
rs887637150	765	S>R		No	TOPMed
rs756996305	766	P>R		No	ExAC gnomAD
rs769285497	768	H>Q		No	ExAC gnomAD
rs369423343	768	H>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs778546051	768	H>Y		No	ExAC TOPMed gnomAD
rs1355969262	769	M>I		No	TOPMed
rs1485050180	770	V>I		No	gnomAD
rs374162238	773	Y>C		No	ESP ExAC TOPMed gnomAD
TCGA novel	774	Q>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs557899937	779	E>D		No	1000Genomes ExAC gnomAD
rs2085831577	779	E>K		No	TOPMed
rs1394442104	780	I>L		No	gnomAD
rs1434793592	780	I>T		No	TOPMed gnomAD
rs773658585	781	E>Q		No	ExAC gnomAD
rs1342938657	782	R>G		No	TOPMed gnomAD
rs2085831919	783	L>Q		No	Ensembl
rs763034669	787	C>R		No	ExAC TOPMed gnomAD
rs959326553	788	S>N		No	Ensembl
rs2085832151	788	S>R		No	Ensembl
rs766635724	789	A>V		No	ExAC gnomAD
rs1407160768	792	H>N		No	TOPMed gnomAD
rs192750841	794	K>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2085832357	795	A>V		No	gnomAD
rs985195295	796	E>V		No	TOPMed
rs759678580	798	S>C		No	ExAC gnomAD
rs796950649	798	S>I		No	gnomAD
rs796950649	798	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs370564418	800	C>F		No	ESP ExAC TOPMed gnomAD
rs370564418	800	C>Y		No	ESP ExAC TOPMed gnomAD
rs966766234	803	N>H		No	TOPMed gnomAD
rs978198815	805	S>I		No	TOPMed gnomAD
rs978198815	805	S>T		No	TOPMed gnomAD
TCGA novel	806	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2085832822	806	K>Q		No	TOPMed
rs1408556089	807	S>C		No	gnomAD
rs752514186	808	E>D		No	ExAC TOPMed gnomAD
rs1252281870	810	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs925370303	810	D>Y		No	gnomAD
rs1206896057	812	M>V		No	TOPMed gnomAD
rs1040958781	814	V>M		No	TOPMed gnomAD
rs2146341323	815	Q>R		No	1000Genomes
rs2085833336	816	L>I		No	Ensembl
rs1405115091	817	D>N		No	gnomAD
rs371024073	818	D>H		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM276096 rs371024073	818	D>N	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1459156187	820	F>L		No	TOPMed gnomAD
rs1047724596	822	Q>E		No	TOPMed gnomAD
rs778778850	822	Q>R		No	ExAC gnomAD
rs2146341384	823	L>R		No	Ensembl
rs2085833844	824	D>N		No	TOPMed
rs1437729742	825	K>R		No	TOPMed gnomAD
rs749941460	826	C>R		No	ExAC gnomAD
rs749941460	826	C>S		No	ExAC gnomAD
rs757924042	827	S>N		No	ExAC TOPMed gnomAD
rs1223327632	828	I>L		No	TOPMed gnomAD
rs1289210533	828	I>M		No	gnomAD
rs944340824	828	I>T		No	TOPMed gnomAD
rs1223327632	828	I>V		No	TOPMed gnomAD
rs779622638	830	R>K		No	ExAC TOPMed gnomAD
rs748565331	831	D>E		No	ExAC TOPMed gnomAD
rs560437733	832	Q>H		No	1000Genomes ExAC gnomAD
rs887789393	832	Q>R		No	TOPMed gnomAD
rs2085834350	833	Y>F		No	TOPMed
rs2085834391	835	S>N		No	Ensembl
COSM4390779	836	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1186750190	838	E>K		No	gnomAD
rs2085879791	839	L>F		No	Ensembl
rs2085879826	840	L>M		No	Ensembl
rs749638619	842	M>T		No	ExAC TOPMed gnomAD
rs995906269	843	E>G		No	Ensembl
rs1272131942	844	K>N		No	gnomAD
rs779249958	845	S>P		No	ExAC gnomAD
rs746048168	848	R>C		No	ExAC TOPMed gnomAD
rs775405047 COSM1197117	848	R>H	lung [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs775405047	848	R>L		No	ExAC TOPMed gnomAD
rs746048168	848	R>S		No	ExAC TOPMed gnomAD
rs199909082	849	S>L		No	ESP ExAC TOPMed gnomAD
rs557508262	850	Q>L		No	1000Genomes ExAC TOPMed gnomAD
rs2085880445	854	L>F		No	TOPMed
rs1394781049	857	E>A		No	TOPMed
rs2085880594	858	V>I		No	Ensembl
rs2085880635	859	E>*		No	Ensembl
rs765086178	860	Q>H		No	ExAC TOPMed gnomAD
rs1229009922	862	K>N		No	TOPMed gnomAD
TCGA novel	862	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs970112978	864	T>A		No	Ensembl
rs750266722	864	T>R		No	ExAC
rs762671947	865	N>D		No	ExAC TOPMed gnomAD
rs762671947	865	N>H		No	ExAC TOPMed gnomAD
rs1345075597	867	Q>E		No	gnomAD
rs2085881147	867	Q>H		No	Ensembl
rs370644599 COSM1215361	868	T>M	large_intestine [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1443727317	869	A>P		No	TOPMed gnomAD
rs2085881375	871	D>G		No	TOPMed gnomAD
rs1569111838	874	T>I		No	TOPMed gnomAD
COSM3799888	874	T>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs865822886	875	S>L		No	Ensembl
rs2085881550	876	S>R		No	gnomAD
rs766946090	876	S>T		No	ExAC gnomAD
rs754271960	878	I>V		No	ExAC gnomAD
TCGA novel	880	E>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1256625225	881	S>F		No	TOPMed
rs1421952360	881	S>P		No	TOPMed gnomAD
rs1403022021	885	M>I		No	gnomAD
rs1173159221	885	M>T		No	gnomAD
rs1432941471	885	M>V		No	gnomAD
rs1416319615	886	D>E		No	gnomAD
rs867735648	886	D>Y		No	TOPMed
rs201269568	888	E>K		No	ESP ExAC TOPMed gnomAD
rs2085915785	890	L>P		No	gnomAD
rs1332296771	893	R>*		No	gnomAD
COSM1030533	896	R>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2085915911	896	R>Q		No	TOPMed
TCGA novel	896	R>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2085915983	897	V>I		No	gnomAD
rs1007349133 COSM1291177	899	V>I	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated TOPMed gnomAD
COSM1030534	904	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1569113100	909	D>G		No	Ensembl
rs780287680	911	D>E		No	ExAC gnomAD
rs747214087	912	L>I		No	ExAC gnomAD
rs928457988	915	V>L		No	TOPMed gnomAD
rs2085916539	918	D>N		No	TOPMed
rs1342103877	921	V>A		No	TOPMed gnomAD
rs1411341914	921	V>I		No	gnomAD
rs748277584	922	V>I		No	ExAC TOPMed gnomAD
rs769847323	923	D>G		No	ExAC gnomAD
rs1299046781	925	I>L		No	TOPMed
rs773340709	927	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs2085916920	927	G>R		No	TOPMed
COSM725203	932	Q>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1231252592	933	M>I		No	TOPMed gnomAD
COSM3550541	933	M>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2085917039	933	M>V		No	Ensembl
rs375623457	936	I>V		No	ESP ExAC TOPMed gnomAD
rs774040578	938	S>N		No	ExAC gnomAD
rs564350034	939	T>A		No	1000Genomes ExAC TOPMed

No associated diseases with Q14149

7 regional properties for Q14149

Type	Name	Position	InterPro Accession
domain	Calcineurin-like phosphoesterase domain, ApaH type	212 - 406	IPR004843
domain	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase	179 - 456	IPR006186
domain	PPP domain	113 - 203	IPR013235
repeat	Tetratricopeptide repeat	5 - 38	IPR019734-1
repeat	Tetratricopeptide repeat	39 - 72	IPR019734-2
repeat	Tetratricopeptide repeat	73 - 106	IPR019734-3
domain	PP5, C-terminal metallophosphatase domain	152 - 467	IPR041753

Functions

		Description
EC Number
Subcellular Localization	Nucleus, nucleoplasm Nucleus matrix Nucleus, PML body Chromosome	Also found in PML-independent nuclear bodies Localization to nuclear bodies is ATP-dependent
PANTHER Family	PTHR23336	ZINC FINGER CW-TYPE COILED-COIL DOMAIN PROTEIN 3.
PANTHER Subfamily	PTHR23336:SF17	MORC FAMILY CW-TYPE ZINC FINGER PROTEIN 3
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
nuclear matrix	The dense fibrillar network lying on the inner side of the nuclear membrane.
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.
PML body	A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection.

6 GO annotations of molecular function

Name	Definition
ATP hydrolysis activity	Catalysis of the reaction
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
methylated histone binding	Binding to a histone in which a residue has been modified by methylation.
protein-macromolecule adaptor activity	The binding activity of a protein that brings together two or more macromolecules in contact, permitting those molecules to function in a coordinated way. The adaptor can bring together two proteins, or a protein and another macromolecule such as a lipid or a nucleic acid.
RNA binding	Binding to an RNA molecule or a portion thereof.
zinc ion binding	Binding to a zinc ion (Zn).

10 GO annotations of biological process

Name	Definition
antiviral innate immune response	A defense response against viruses mediated through an innate immune response. An innate immune response is mediated by germline encoded components that directly recognize components of potential pathogens.
maintenance of protein location in nucleus	Any process in which a protein is maintained in the nucleus and prevented from moving elsewhere. These include sequestration within the nucleus, protein stabilization to prevent transport elsewhere and the active retrieval of proteins that escape the nucleus.
negative regulation of fibroblast proliferation	Any process that stops, prevents, or reduces the frequency, rate or extent of multiplication or reproduction of fibroblast cells.
negative regulation of interferon-beta production	Any process that stops, prevents, or reduces the frequency, rate, or extent of interferon-beta production.
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.
peptidyl-serine phosphorylation	The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine.
positive regulation of cellular senescence	Any process that activates or increases the frequency, rate or extent of cellular senescence.
post-embryonic development	The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
protein stabilization	Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation.

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9Y6X9	MORC2	ATPase MORC2	Homo sapiens (Human)	PR
Q8TE76	MORC4	MORC family CW-type zinc finger protein 4	Homo sapiens (Human)	SS
Q69ZX6	Morc2a	ATPase MORC2A	Mus musculus (Mouse)	PR
Q8BMD7	Morc4	MORC family CW-type zinc finger protein 4	Mus musculus (Mouse)	SS
Q8C5W4	Morc2b	ATPase MORC2B	Mus musculus (Mouse)	PR
F7BJB9	Morc3	MORC family CW-type zinc finger protein 3	Mus musculus (Mouse)	SS

10	20	30	40	50	60
MAAQPPRGIR	LSALCPKFLH	TNSTSHTWPF	SAVAELIDNA	YDPDVNAKQI	WIDKTVINDH
70	80	90	100	110	120
ICLTFTDNGN	GMTSDKLHKM	LSFGFSDKVT	MNGHVPVGLY	GNGFKSGSMR	LGKDAIVFTK
130	140	150	160	170	180
NGESMSVGLL	SQTYLEVIKA	EHVVVPIVAF	NKHRQMINLA	ESKASLAAIL	EHSLFSTEQK
190	200	210	220	230	240
LLAELDAIIG	KKGTRIIIWN	LRSYKNATEF	DFEKDKYDIR	IPEDLDEITG	KKGYKKQERM
250	260	270	280	290	300
DQIAPESDYS	LRAYCSILYL	KPRMQIILRG	QKVKTQLVSK	SLAYIERDVY	RPKFLSKTVR
310	320	330	340	350	360
ITFGFNCRNK	DHYGIMMYHR	NRLIKAYEKV	GCQLRANNMG	VGVVGIIECN	FLKPTHNKQD
370	380	390	400	410	420
FDYTNEYRLT	ITALGEKLND	YWNEMKVKKN	TEYPLNLPVE	DIQKRPDQTW	VQCDACLKWR
430	440	450	460	470	480
KLPDGMDQLP	EKWYCSNNPD	PQFRNCEVPE	EPEDEDLVHP	TYEKTYKKTN	KEKFRIRQPE
490	500	510	520	530	540
MIPRINAELL	FRPTALSTPS	FSSPKESVPR	RHLSEGTNSY	ATRLLNNHQV	PPQSEPESNS
550	560	570	580	590	600
LKRRLSTRSS	ILNAKNRRLS	SQFENSVYKG	DDDDEDVIIL	EENSTPKPAV	DHDIDMKSEQ
610	620	630	640	650	660
SHVEQGGVQV	EFVGDSEPCG	QTGSTSTSSS	RCDQGNTAAT	QTEVPSLVVK	KEETVEDEID
670	680	690	700	710	720
VRNDAVILPS	CVEAEAKIHE	TQETTDKSAD	DAGCQLQELR	NQLLLVTEEK	ENYKRQCHMF
730	740	750	760	770	780
TDQIKVLQQR	ILEMNDKYVK	KETCHQSTET	DAVFLLESIN	GKSESPDHMV	SQYQQALEEI
790	800	810	820	830	840
ERLKKQCSAL	QHVKAECSQC	SNNESKSEMD	EMAVQLDDVF	RQLDKCSIER	DQYKSEVELL
850	860	870	880	890	900
EMEKSQIRSQ	CEELKTEVEQ	LKSTNQQTAT	DVSTSSNIEE	SVNHMDGESL	KLRSLRVNVG
910	920	930
QLLAMIVPDL	DLQQVNYDVD	VVDEILGQVV	EQMSEISST