AiPD: Autoinhibited Protein Database

O60237

Gene name	PPP1R12B (MYPT2)
Protein name	Protein phosphatase 1 regulatory subunit 12B
Names	Myosin phosphatase-targeting subunit 2, Myosin phosphatase target subunit 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4660
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

435-594 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

435-594 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for O60237

Entry ID	Method	Resolution	Chain	Position	Source
AF-O60237-F1	Predicted				AlphaFoldDB

765 variants for O60237

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs569281387 CA1332511	2	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs750899954 CA1332512	3	E>K		No	ClinGen ExAC TOPMed gnomAD
CA344258185 rs1181326177	6	H>Y		No	ClinGen gnomAD
rs749614414 CA1332515	7	L>V		No	ClinGen ExAC gnomAD
rs1164334561 CA344258201	9	G>R		No	ClinGen gnomAD
CA35528412 rs974924403	11	R>G		No	ClinGen TOPMed gnomAD
rs866654318 CA35528413	11	R>Q		No	ClinGen TOPMed
CA344258215 rs974924403	11	R>W		No	ClinGen TOPMed gnomAD
rs1375212240 CA344258237	14	S>L		No	ClinGen gnomAD
rs1391806091 CA344258243	15	A>V		No	ClinGen TOPMed gnomAD
rs200915621 CA1332518	18	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA35528418 rs954417008	20	A>S		No	ClinGen Ensembl
rs367969523 CA35528423	20	A>V		No	ClinGen Ensembl
rs1246425351 CA344258281	22	Q>*		No	ClinGen TOPMed
CA1332520 rs557937540	22	Q>R		No	ClinGen 1000Genomes ExAC
rs759410284 CA1332521	23	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1253639089 CA344258289	23	L>P		No	ClinGen gnomAD
CA344258291 rs1481153313	24	R>G		No	ClinGen gnomAD
CA344258292 rs1481153313	24	R>W		No	ClinGen gnomAD
CA344258370 rs1448945415	29	S>L		No	ClinGen TOPMed
CA35528433 rs578087903	30	L>R		No	ClinGen 1000Genomes
rs1447879111 CA344258402	31	T>I		No	ClinGen TOPMed
rs1447879111 CA344258400	31	T>R		No	ClinGen TOPMed
CA1332522 rs769727161	32	E>G		No	ClinGen ExAC TOPMed gnomAD
CA35528436 rs987099013	32	E>K		No	ClinGen Ensembl
CA344258429 rs1446680595	33	Q>R		No	ClinGen gnomAD
rs1384677574 CA344258460	35	P>T		No	ClinGen gnomAD
rs1436239753 CA344258476	36	A>V		No	ClinGen TOPMed gnomAD
CA1332526 rs763900411	37	E>G		No	ClinGen ExAC gnomAD
TCGA novel	38	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1332527 rs540588690	38	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1332528 rs761491383	39	R>G		No	ClinGen ExAC gnomAD
rs1397603731 CA344258499	41	A>P		No	ClinGen TOPMed gnomAD
CA344258504 rs1365307334	41	A>V		No	ClinGen TOPMed
CA344258517 rs1282956763	43	R>G		No	ClinGen Ensembl
TCGA novel	44	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1332530 rs749901372	45	P>Q		No	ClinGen ExAC gnomAD
rs1226170657 CA344258554	46	L>M		No	ClinGen TOPMed gnomAD
CA344258559 rs1298310897	46	L>Q		No	ClinGen gnomAD
CA344258572 rs940626062	47	T>A		No	ClinGen TOPMed
CA35528486 rs940626062	47	T>P		No	ClinGen TOPMed
rs756611350 CA1332532	47	T>S		No	ClinGen ExAC gnomAD
CA344258587 rs1256542290	48	R>K		No	ClinGen gnomAD
rs780586850 CA1332533	49	R>L		No	ClinGen ExAC gnomAD
TCGA novel	52	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143142145 CA35528513	53	R>K		No	ClinGen ESP TOPMed
CA35528515 rs199909756	53	R>S		No	ClinGen 1000Genomes TOPMed
rs1431944142 CA344258688	55	R>C		No	ClinGen TOPMed
CA344258686 rs1431944142	55	R>G		No	ClinGen TOPMed
CA1332538 rs201719870	55	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA344258684 rs1431944142	55	R>S		No	ClinGen TOPMed
rs772284075 CA1332540	59	G>C		No	ClinGen ExAC gnomAD
rs772284075 CA1332541	59	G>R		No	ClinGen ExAC gnomAD
rs772284075 CA1332539	59	G>S		No	ClinGen ExAC gnomAD
CA344258769 rs1470858275	61	V>I		No	ClinGen gnomAD
CA344258819 rs1404934391	64	A>T		No	ClinGen gnomAD
CA35528532 rs900208815	64	A>V		No	ClinGen TOPMed gnomAD
rs769671791 CA1332543	65	A>S		No	ClinGen ExAC gnomAD
CA35528539 rs1055654135	67	S>C		No	ClinGen TOPMed
rs1055654135 CA344258870	67	S>F		No	ClinGen TOPMed
rs574380817 CA35528564	69	G>W		No	ClinGen 1000Genomes
rs1571489482 CA344258911	70	D>G		No	ClinGen Ensembl
rs1376247720 CA344258916	71	T>P		No	ClinGen gnomAD
CA344258935 rs1461829863	72	D>G		No	ClinGen TOPMed
rs762911921 CA344258928	72	D>N		No	ClinGen ExAC gnomAD
CA1332545 rs762911921	72	D>Y		No	ClinGen ExAC gnomAD
CA1332546 rs768580152	76	K>R		No	ClinGen ExAC gnomAD
CA344259017 rs761580919	78	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	78	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1228148400 CA344259022	79	A>E		No	ClinGen Ensembl
rs767160205 CA1332550	79	A>S		No	ClinGen ExAC TOPMed gnomAD
rs767160205 CA1332549	79	A>T		No	ClinGen ExAC TOPMed gnomAD
CA344259025 rs1217970396	80	R>G		No	ClinGen gnomAD
CA344259035 rs1242763025	81	G>D		No	ClinGen gnomAD
rs1285806933 CA344259032	81	G>S		No	ClinGen TOPMed gnomAD
CA1332551 rs371337202	82	A>V		No	ClinGen ESP ExAC gnomAD
CA344259043 rs1192817240	83	D>N		No	ClinGen TOPMed gnomAD
CA344259062 rs1571489839	85	N>S		No	ClinGen Ensembl
CA344259067 rs1176934152	86	T>A		No	ClinGen gnomAD
rs754347308 CA1332554	86	T>M		No	ClinGen ExAC TOPMed
CA344259097 rs563079889	88	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1332556 rs563079889	88	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344259103 rs1571489991	89	V>M		No	ClinGen Ensembl
rs765604251 CA1332557	92	L>V		No	ClinGen ExAC gnomAD
CA344259183 rs1345232693	94	A>S		No	ClinGen TOPMed gnomAD
CA344259190 rs1452486748	94	A>V		No	ClinGen gnomAD
CA344259201 rs1296833991	95	L>P		No	ClinGen gnomAD
TCGA novel	95	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1332558 rs753017801	97	Q>E		No	ClinGen ExAC gnomAD
rs1405859341 CA344259231	97	Q>R		No	ClinGen gnomAD
CA35526465 rs755332790	100	I>V		No	ClinGen Ensembl
rs1176456141 CA344240933	104	L>S		No	ClinGen TOPMed gnomAD
rs1386553381 CA344240940	105	D>H		No	ClinGen gnomAD
CA1332583 rs755008092	106	M>V		No	ClinGen ExAC gnomAD
CA344240994 rs1163164894	108	K>E		No	ClinGen gnomAD
rs796955675 CA35526481	108	K>N		No	ClinGen Ensembl
CA1332584 rs778973180	113	N>K		No	ClinGen ExAC TOPMed gnomAD
CA1332585 rs139402597	114	R>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs150972344 CA35526519	115	A>G		No	ClinGen ESP TOPMed gnomAD
CA1332586 rs771903776	116	N>S		No	ClinGen ExAC TOPMed gnomAD
CA344241114 rs771903776	116	N>T		No	ClinGen ExAC TOPMed gnomAD
rs772824243 CA1332587	117	V>E		No	ClinGen ExAC gnomAD
CA344241122 rs1356756214	117	V>L		No	ClinGen TOPMed gnomAD
rs1283482703 CA344241212	123	E>K		No	ClinGen TOPMed gnomAD
rs1354169341 CA344241227	124	G>D		No	ClinGen gnomAD
rs1362054737 CA344241226	124	G>S		No	ClinGen TOPMed
rs1179731369 CA344241237	125	W>*		No	ClinGen TOPMed
CA344241250 rs1273428614	126	T>I		No	ClinGen gnomAD
rs759022335 CA1332591	129	H>N		No	ClinGen ExAC gnomAD
rs1418625667 CA344241265	129	H>P		No	ClinGen TOPMed
rs1558197679 CA344241283	132	A>P		No	ClinGen Ensembl
rs866434561 CA35526534	133	S>F		No	ClinGen Ensembl
rs1196331749 CA344241304	135	G>D		No	ClinGen TOPMed gnomAD
rs1308921321 CA344241322	138	N>D		No	ClinGen TOPMed gnomAD
rs765794332 CA1332592	138	N>S		No	ClinGen ExAC gnomAD
CA344241333 rs1367168711	139	I>M		No	ClinGen gnomAD
rs775974505 CA1332593	139	I>V		No	ClinGen ExAC gnomAD
CA1332594 rs763306615	140	A>G		No	ClinGen ExAC TOPMed gnomAD
CA344241338 rs763306615	140	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA344241363 rs1298681592	142	Y>C		No	ClinGen gnomAD
rs1339796403 CA344241377	144	I>V		No	ClinGen TOPMed gnomAD
CA344241382 rs1397838829	145	N>H		No	ClinGen gnomAD
rs774819653 CA1332615	145	N>S		No	ClinGen ExAC gnomAD
CA1332616 rs762249302	146	H>D		No	ClinGen ExAC TOPMed gnomAD
CA1332617 rs541544484	146	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344241390 rs762249302	146	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs191824584 CA1332619	147	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1420432176 CA344241407	149	S>G		No	ClinGen TOPMed
rs753817901 CA1332621	150	V>A		No	ClinGen ExAC TOPMed gnomAD
rs766588530 CA1332620	150	V>L		No	ClinGen ExAC gnomAD
CA344241424 rs1202291260	152	I>L		No	ClinGen TOPMed gnomAD
CA344241426 rs1202291260	152	I>V		No	ClinGen TOPMed gnomAD
CA1332622 rs141572166	154	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1204847754 CA344241439	154	N>Y		No	ClinGen TOPMed
rs1558204803 CA344241455	155	S>N		No	ClinGen Ensembl
rs777673487 CA1332623	156	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1197011112 CA344241482	157	G>S		No	ClinGen gnomAD
CA344241526 rs1158154408	160	P>L		No	ClinGen gnomAD
CA1332627 rs745538079	161	S>P		No	ClinGen ExAC gnomAD
rs1391177162 CA344241545	162	D>A		No	ClinGen gnomAD
CA1332628 rs769392059	162	D>H		No	ClinGen ExAC gnomAD
CA344241548 rs1391177162	162	D>V		No	ClinGen gnomAD
CA1332629 rs189088367	168	A>G		No	ClinGen 1000Genomes ExAC gnomAD
CA1332630 rs372250447	169	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA35528359 rs898377295	170	K>E		No	ClinGen TOPMed
CA1332633 rs774709705	171	D>G		No	ClinGen ExAC
rs748596742 CA1332634	173	L>I		No	ClinGen ExAC gnomAD
TCGA novel	174	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1332635 CA1332636 rs369829139	175	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs890890926 CA35528382	176	Q>E		No	ClinGen TOPMed
CA1332637 rs559371943	180	Q>E		No	ClinGen ExAC gnomAD
rs1462660892 CA344242475	181	G>E		No	ClinGen gnomAD
rs772665494 CA1332654	182	V>A		No	ClinGen ExAC TOPMed gnomAD
rs2843414 CA35529258 VAR_017480	182	V>I		No	ClinGen UniProt Ensembl dbSNP
TCGA novel	185	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1256716358 CA344242536	187	S>L		No	ClinGen gnomAD
rs747351959 CA1332656	188	R>K		No	ClinGen ExAC gnomAD
CA1332658 rs771239626	190	E>D		No	ClinGen ExAC gnomAD
TCGA novel	192	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1332660 rs759740349	192	E>A		No	ClinGen ExAC TOPMed gnomAD
rs143342915 CA1332662	193	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs374211265 CA1332663	195	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA344242648 rs1558208667	195	M>T		No	ClinGen Ensembl
CA344242702 rs1377871919	199	A>P		No	ClinGen gnomAD
rs1298458472 CA344242712	200	R>C		No	ClinGen TOPMed gnomAD
CA1332665 rs750268281	206	G>R		No	ClinGen ExAC gnomAD
CA344242949 rs1477206111	210	D>H		No	ClinGen TOPMed gnomAD
CA344242975 rs1256355870	211	V>L		No	ClinGen TOPMed gnomAD
CA35529363 rs887491391	212	R>G		No	ClinGen TOPMed gnomAD
CA1332667 rs766125318	213	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1381178667 CA344243035	214	A>T		No	ClinGen TOPMed
CA1332668 rs141513696	215	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA1332670 rs368133673	215	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA1332669 rs368133673	215	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1571953331 CA344243089	216	S>P		No	ClinGen Ensembl
CA1332672 rs759019776	218	A>T		No	ClinGen ExAC TOPMed gnomAD
CA344243138 rs1169137031	218	A>V		No	ClinGen TOPMed
rs866072899 CA35529426	219	T>I		No	ClinGen Ensembl
CA35529430 rs558790855	221	L>V		No	ClinGen 1000Genomes TOPMed
CA35529436 rs757425941	222	H>P		No	ClinGen Ensembl
rs747441742 CA1332674	223	V>A		No	ClinGen ExAC gnomAD
rs1470738089 CA344243243	224	A>T		No	ClinGen TOPMed gnomAD
rs1176384653 CA344243287	225	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	233	L>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1364383806 CA344243450	233	L>I		No	ClinGen Ensembl
CA344243616 rs1453056181	235	L>F		No	ClinGen gnomAD
rs760559252 CA1332700	240	G>S		No	ClinGen ExAC TOPMed gnomAD
CA344243708 rs1487290313	240	G>V		No	ClinGen gnomAD
CA1332701 rs138590457	241	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1332702 rs776339705	243	L>P		No	ClinGen ExAC gnomAD
CA1332703 rs759358592	244	N>S		No	ClinGen ExAC TOPMed gnomAD
CA1332705 rs752399134	246	Q>P		No	ClinGen ExAC gnomAD
rs529650757 CA1332706	248	Y>F		No	ClinGen 1000Genomes ExAC gnomAD
CA344243855 rs1348551901	249	D>N		No	ClinGen gnomAD
rs1393116260 CA344243893	251	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA344243914 rs1571960323	252	T>A		No	ClinGen Ensembl
CA344243927 rs1444597544	253	P>A		No	ClinGen TOPMed gnomAD
CA344243929 rs1444597544	253	P>S		No	ClinGen TOPMed gnomAD
rs1444669343 CA344243965	255	H>P		No	ClinGen gnomAD
rs1444669343 CA344243967	255	H>R		No	ClinGen gnomAD
rs1358414701 CA344244014	258	A>V		No	ClinGen gnomAD
rs781711946 CA1332710	260	W>C		No	ClinGen ExAC gnomAD
rs750811766 CA1332711	261	G>E		No	ClinGen ExAC
CA344244089 rs1571960466	262	V>G		No	ClinGen Ensembl
CA1332713 rs780331802	265	A>T		No	ClinGen ExAC gnomAD
rs1418771033 CA344244148	265	A>V		No	ClinGen TOPMed
CA1332715 rs549330516	268	I>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1332716 rs549330516	268	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	271	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1332717 rs778898461	273	L>V		No	ClinGen ExAC TOPMed gnomAD
rs376795822 CA1332718	274	C>G		No	ClinGen ESP ExAC gnomAD
CA344244316 rs1237311564	275	D>V		No	ClinGen TOPMed
CA344244332 rs1473398994	276	M>T		No	ClinGen gnomAD
CA1332719 rs61736233	276	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs776622860 CA1332720	277	D>Y		No	ClinGen ExAC gnomAD
CA1332721 rs745722711	278	I>L		No	ClinGen ExAC TOPMed gnomAD
CA35530071 rs1025729982	279	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA1332722 rs569635559	279	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA35530074 rs756174760	280	N>H		No	ClinGen Ensembl
CA344245144 rs1419373646	284	Q>L		No	ClinGen TOPMed gnomAD
TCGA novel	288	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1332739 rs199816573	290	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	291	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1332740 rs775467081	293	G>D		No	ClinGen ExAC gnomAD
rs774052274 CA1332743	295	V>A		No	ClinGen ExAC
rs148672635 CA35530825 CA344245307	295	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148672635 CA1332742	295	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1332744 rs368469909	296	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	298	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA35530840 rs934145947	298	L>V		No	ClinGen TOPMed gnomAD
rs561924200 CA1332747	299	E>*		No	ClinGen 1000Genomes ExAC
CA1332746 rs561924200	299	E>Q		No	ClinGen 1000Genomes ExAC
rs761207734 CA1332748	299	E>V		No	ClinGen ExAC gnomAD
rs2306841 CA35530851	300	L>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	300	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344245392 rs2306841	300	L>V		No	ClinGen ExAC TOPMed gnomAD
CA344245404 rs1240888839	301	L>I		No	ClinGen gnomAD
rs1277070190 CA344245456	304	K>E		No	ClinGen TOPMed gnomAD
CA344245472 rs1489567151	305	Q>E		No	ClinGen gnomAD
CA344245498 rs1444056367	306	N>S		No	ClinGen TOPMed
CA344245648 rs1451232430	309	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs368051793 CA1332764	309	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs772754423 CA1332765	310	S>T		No	ClinGen ExAC gnomAD
rs760161148 CA1332766	311	E>K		No	ClinGen ExAC gnomAD
CA1332769 rs759977314	315	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1332768 rs545655391	315	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1164800442 CA344245765	316	N>D		No	ClinGen gnomAD
CA1332770 rs765656171	321	S>A		No	ClinGen ExAC TOPMed gnomAD
CA1332771 rs752961862	321	S>L		No	ClinGen ExAC gnomAD
rs202207519 CA344245878	323	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344245911 rs1442312935	325	S>G		No	ClinGen TOPMed
rs764201932 CA1332773	326	K>R		No	ClinGen ExAC gnomAD
rs369275978 CA35531561	328	Q>E		No	ClinGen ESP TOPMed
rs751747714 CA1332774	328	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	329	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1309126054 CA344246055	333	K>R		No	ClinGen gnomAD
CA344246125 rs1274631427	334	N>K		No	ClinGen TOPMed
TCGA novel	336	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344246142 rs1330065491	336	E>Q		No	ClinGen gnomAD
CA344246184 rs1246030102	338	M>I		No	ClinGen TOPMed
CA1332785 rs533507195	341	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	343	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1558216089 CA344246285	343	E>K		No	ClinGen Ensembl
CA1332786 rs760118732	345	P>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	346	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770167934 CA1332787	348	Q>K		No	ClinGen ExAC gnomAD
TCGA novel	350	M>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344246483 rs1231850298	351	E>G		No	ClinGen gnomAD
rs1231850298 CA344246492	351	E>V		No	ClinGen gnomAD
rs369802325 CA1332788	352	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA344246502 rs1369872956	352	E>K		No	ClinGen TOPMed
rs1249654907 CA344246639	357	S>C		No	ClinGen gnomAD
rs1484314499 CA344246645	358	S>G		No	ClinGen gnomAD
CA1332790 rs546773418	358	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1256786681 CA344246666	358	S>R		No	ClinGen gnomAD
rs528139218 CA1332791	359	S>G		No	ClinGen ExAC TOPMed gnomAD
CA35531863 rs147915625	359	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344246705 rs1425571074	361	S>I		No	ClinGen gnomAD
rs767730263 CA1332793	364	E>D		No	ClinGen ExAC
CA344246733 rs1399937025	364	E>Q		No	ClinGen gnomAD
CA35531915 rs916805792	366	E>G		No	ClinGen TOPMed
rs1468959119 CA344246779	368	E>K		No	ClinGen TOPMed
rs1251695049 CA344246792	369	D>H		No	ClinGen TOPMed
rs1477926359 CA344246816	371	A>P		No	ClinGen gnomAD
CA344246815 rs1477926359	371	A>T		No	ClinGen gnomAD
rs750493413 CA1332794	373	E>K		No	ClinGen ExAC gnomAD
rs1402158762 CA344246854	375	E>K		No	ClinGen gnomAD
rs1413269194 CA344246884	377	E>A		No	ClinGen gnomAD
CA1332797 rs752600372	378	K>N		No	ClinGen ExAC gnomAD
CA1332819 rs763907628	381	D>V		No	ClinGen ExAC gnomAD
rs751324147 CA1332820	382	K>R		No	ClinGen ExAC gnomAD
CA344247777 rs1376015998	386	A>D		No	ClinGen TOPMed gnomAD
CA344247780 rs1376015998	386	A>G		No	ClinGen TOPMed gnomAD
rs1467069355 CA344247790	387	F>S		No	ClinGen gnomAD
rs932963735 CA35533613	389	N>D		No	ClinGen TOPMed
rs145355178 CA1332823	389	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA344247847 rs1157350867	390	H>L		No	ClinGen gnomAD
rs1419433785 CA344247844	390	H>Y		No	ClinGen TOPMed gnomAD
CA344247865 rs755584686	391	S>C		No	ClinGen ExAC TOPMed gnomAD
CA1332825 rs755584686	391	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1332824 rs755584686	391	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs370765923 CA1332827	392	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs552381159 CA1332828	392	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs552381159 CA344247872	392	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344247870 rs370765923	392	N>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs373933959 CA344247906	395	S>N		No	ClinGen gnomAD
CA35533628 rs373933959	395	S>T		No	ClinGen gnomAD
CA35533631 rs945702346	398	S>N		No	ClinGen TOPMed
CA344247970 rs1223197218	399	I>S		No	ClinGen TOPMed gnomAD
CA344247969 rs1223197218	399	I>T		No	ClinGen TOPMed gnomAD
CA1332831 rs772487377	402	Q>H		No	ClinGen ExAC gnomAD
rs773306709 CA1332832	406	P>R		No	ClinGen ExAC gnomAD
rs1272161678 CA344248124	410	T>S		No	ClinGen gnomAD
CA1332834 rs141106365	412	S>F		No	ClinGen ESP ExAC gnomAD
rs776732001 CA1332835	416	A>S		No	ClinGen ExAC gnomAD
CA1332836 rs145855303	416	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1332837 rs773258070	417	R>W		No	ClinGen ExAC gnomAD
CA1332851 rs201237332 CA344249062	419	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1332850 rs747226469	419	F>L		No	ClinGen ExAC gnomAD
rs1279505956 CA344249150	422	G>A		No	ClinGen TOPMed
rs1279505956 CA344249152	422	G>D		No	ClinGen TOPMed
rs141589562 CA344249174	423	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs141589562 CA1332852	423	L>V		No	ClinGen ESP ExAC gnomAD
rs1326692644 CA344249359	430	P>A		No	ClinGen TOPMed gnomAD
rs1326692644 CA344249363	430	P>S		No	ClinGen TOPMed gnomAD
rs768648375 CA1332855	433	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA1332857 rs761681797	437	S>A		No	ClinGen ExAC gnomAD
rs1572017743 CA344249539	440	L>W		No	ClinGen Ensembl
CA1332859 rs750197466	441	G>A		No	ClinGen ExAC gnomAD
CA344249549 rs1278458488	441	G>R		No	ClinGen TOPMed gnomAD
CA344249561 rs1212325570	442	L>V		No	ClinGen gnomAD
rs1572017814 CA344249574	443	R>K		No	ClinGen Ensembl
rs947579880 CA35535318	445	T>P		No	ClinGen Ensembl
rs1572017871 CA344249631	446	G>A		No	ClinGen Ensembl
rs753463227 CA1332862	447	S>T		No	ClinGen ExAC gnomAD
rs1049923854 CA35535325	448	H>D		No	ClinGen Ensembl
CA1332863 rs754537215	448	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1372722709 CA344249683	449	N>K		No	ClinGen gnomAD
rs778504901 CA35535329	450	M>L		No	ClinGen ExAC TOPMed gnomAD
CA1332864 rs778504901	450	M>V		No	ClinGen ExAC TOPMed gnomAD
CA344249717 rs1197493529	452	S>G		No	ClinGen TOPMed
CA1332865 rs753275810	455	A>P		No	ClinGen ExAC gnomAD
rs758933962 CA1332866	456	N>S		No	ClinGen ExAC gnomAD
rs1435260706 CA344249807	457	S>C		No	ClinGen TOPMed gnomAD
rs1435260706 CA344249808	457	S>F		No	ClinGen TOPMed gnomAD
CA1332867 rs371888764	460	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150595874 CA1332869	461	I>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs137862932 CA1332868	461	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1332870 rs568830568	462	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1332871 rs746025634	463	D>G		No	ClinGen ExAC TOPMed gnomAD
rs774172906 CA35535355	464	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA1332873 rs139698564	464	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344249928 rs1234178291	465	G>D		No	ClinGen gnomAD
rs772020166 CA1332875	466	S>F		No	ClinGen ExAC TOPMed gnomAD
CA1332876 rs370884876	469	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766018679 CA1332878	470	R>C		No	ClinGen ExAC gnomAD
CA1332879 rs375188362	470	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1342048907 CA344250048	473	S>L		No	ClinGen TOPMed gnomAD
rs1400056091 CA344250073	475	P>R		No	ClinGen gnomAD
CA1332880 rs759211358	476	R>G		No	ClinGen ExAC TOPMed gnomAD
CA344250078 rs1247355747	476	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs759211358 CA1332881	476	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs369661391 CA1332883	477	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA344250113 rs1572018446	479	A>V		No	ClinGen Ensembl
rs1421239059 CA344250129	481	L>R		No	ClinGen gnomAD
CA1332886 rs757647009	483	N>D		No	ClinGen ExAC TOPMed gnomAD
rs781480060 CA1332887	483	N>S		No	ClinGen ExAC gnomAD
rs746112008 CA1332888	484	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	485	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1371019391 CA344250158	485	D>N		No	ClinGen gnomAD
CA344250164 rs1439526298	485	D>V		No	ClinGen gnomAD
rs1301827480 CA344250173	486	K>R		No	ClinGen gnomAD
rs1314081544 CA344239467	488	R>G		No	ClinGen gnomAD
TCGA novel	489	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868563548 CA35517762	490	N>K		No	ClinGen gnomAD
rs201801874 CA1332945	491	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1332946 rs773963397	492	S>G		No	ClinGen ExAC gnomAD
rs761218693 CA1332948	492	S>I		No	ClinGen ExAC
CA344239585 rs1243686471	493	Y>H		No	ClinGen gnomAD
rs1485974859 CA344239660	496	S>L		No	ClinGen gnomAD
rs773716457 CA35517806	499	P>A		No	ClinGen ExAC TOPMed gnomAD
rs773716457 CA1332950	499	P>T		No	ClinGen ExAC TOPMed gnomAD
rs766756633 CA1332952	500	R>G		No	ClinGen ExAC TOPMed gnomAD
rs111305872 CA1332953	500	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766756633 CA35517813	500	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs759848696 CA1332954	502	L>F		No	ClinGen ExAC TOPMed gnomAD
rs200875023 CA35517818	503	N>D		No	ClinGen Ensembl
rs1453308943 CA344239779	504	S>N		No	ClinGen gnomAD
CA35517828 rs760240105	508	I>T		No	ClinGen TOPMed gnomAD
rs1379855498 CA344239846	508	I>V		No	ClinGen Ensembl
rs112086564 CA1332955	510	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752886585 CA1332956	512	E>K		No	ClinGen ExAC gnomAD
CA1332957 rs758556088	514	R>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	515	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375502243 CA1332975	515	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	515	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764301133 CA1332976	516	S>L		No	ClinGen ExAC gnomAD
rs751659802 CA344239957	520	L>I		No	ClinGen ExAC TOPMed gnomAD
rs751659802 CA1332977	520	L>V		No	ClinGen ExAC TOPMed gnomAD
CA1332979 rs766216805 CA1332980	521	V>L		No	ClinGen ExAC gnomAD
CA344239977 rs1447986179	523	S>I		No	ClinGen TOPMed gnomAD
CA35518559 rs981618850	525	S>F		No	ClinGen Ensembl
CA344239994 rs1411732974	526	Y>C		No	ClinGen gnomAD
rs1572045231 CA344239993	526	Y>H		No	ClinGen Ensembl
CA1332982 rs149308182	528	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1355059975 CA344240006	528	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1332983 rs149308182	528	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344240010 rs1441449975	529	Q>*		No	ClinGen gnomAD
rs758011283 CA1332984	529	Q>R		No	ClinGen ExAC gnomAD
CA344240021 rs1233507759	531	W>R		No	ClinGen TOPMed gnomAD
CA35518566 rs762431446	532	R>K		No	ClinGen TOPMed gnomAD
CA344240039 rs1572045367	533	D>G		No	ClinGen Ensembl
rs777311265 CA1332986	541	P>L		No	ClinGen ExAC gnomAD
CA344240096 rs1211591586	541	P>S		No	ClinGen TOPMed
CA1332987 rs746506548	542	Q>*		No	ClinGen ExAC gnomAD
rs777007192 CA1332989	542	Q>H		No	ClinGen ExAC gnomAD
rs771533973 CA1332988	542	Q>R		No	ClinGen ExAC gnomAD
CA1332991 rs200544234	543	T>A		No	ClinGen 1000Genomes ExAC
CA344240108 rs1558233782	543	T>I		No	ClinGen Ensembl
CA344240113 rs1187404235	544	I>T		No	ClinGen gnomAD
CA1332994 rs775957719	544	I>V		No	ClinGen ExAC
rs763307309 CA1332995	545	A>D		No	ClinGen ExAC gnomAD
rs1255706754 CA344240117	545	A>S		No	ClinGen gnomAD
CA1332999 rs774632544	548	T>A		No	ClinGen ExAC gnomAD
rs1232205887 CA344240136	548	T>I		No	ClinGen TOPMed
rs142827848 CA1333001	549	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344240144 rs1415205556	550	V>I		No	ClinGen TOPMed gnomAD
rs1325122470 CA344240158	552	T>A		No	ClinGen TOPMed
CA344240162 rs1311847640	552	T>I		No	ClinGen gnomAD
CA344240175 rs1572045751	554	L>W		No	ClinGen Ensembl
CA344241456 rs1411865620	557	T>P		No	ClinGen TOPMed
rs1411865620 CA344241460	557	T>S		No	ClinGen TOPMed
rs1278626067 CA344241469	558	P>A		No	ClinGen gnomAD
CA344241477 rs1353360656	558	P>R		No	ClinGen gnomAD
rs1278626067 CA344241473	558	P>T		No	ClinGen gnomAD
rs765143848 CA1333021	559	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA1333020 rs759436921	559	H>Y		No	ClinGen ExAC gnomAD
CA344241514 rs1572075803	561	S>P		No	ClinGen Ensembl
CA1333022 rs752551932	563	A>D		No	ClinGen ExAC gnomAD
CA1333024 rs201923683	564	D>N	Variant assessed as Somatic; 0.001525 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA1333025 rs35449619	565	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA344241565 rs1192999272	565	T>K		No	ClinGen gnomAD
rs35449619 CA35520866	565	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA344241621 rs1163392295	569	K>Q		No	ClinGen TOPMed
rs1455358968 CA344241687	573	N>D		No	ClinGen TOPMed gnomAD
CA1333029 rs749927722	573	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1183946830 CA344241707	574	V>D		No	ClinGen TOPMed
CA344241725 rs796339366	575	S>F		No	ClinGen TOPMed
rs796339366 CA35520873	575	S>Y		No	ClinGen TOPMed
CA344241730 rs1232108239	576	S>P		No	ClinGen TOPMed
CA1333031 rs373149697	577	S>G		No	ClinGen ESP ExAC gnomAD
rs758115673 CA1333034	579	P>L		No	ClinGen ExAC TOPMed gnomAD
rs769158848 CA1333033	579	P>T		No	ClinGen ExAC gnomAD
rs34738822 CA35520915	580	L>F		No	ClinGen Ensembl
rs772312619 CA1333036	581	C>Y		No	ClinGen ExAC gnomAD
rs777343765 CA1333038	585	N>S		No	ClinGen ExAC TOPMed gnomAD
rs770929755 CA1333039	586	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1333041 rs369793804	586	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs369793804 CA1333040	586	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA1333042 rs763907761	590	S>R		No	ClinGen ExAC gnomAD
rs751339016 CA1333043	591	T>A		No	ClinGen ExAC gnomAD
CA344241908 rs1333174948	591	T>S		No	ClinGen TOPMed
rs761421460 CA1333044	592	A>S		No	ClinGen ExAC gnomAD
CA1333046 rs373694177	593	N>D		No	ClinGen ESP ExAC gnomAD
rs373694177 CA35520963	593	N>H		No	ClinGen ESP ExAC gnomAD
CA1333047 rs536678084	593	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344241948 rs1292244317	595	V>L		No	ClinGen gnomAD
rs768096134 CA1333048	596	T>I		No	ClinGen ExAC gnomAD
rs754422576 CA1333049	597	A>G		No	ClinGen ExAC gnomAD
TCGA novel	599	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1333050 rs755505950	600	V>A		No	ClinGen ExAC gnomAD
rs185424822 CA1333051	601	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1333052 rs748529507	601	L>P		No	ClinGen ExAC
rs1294146109 CA344242049	603	I>T		No	ClinGen gnomAD
rs1170347715 CA344242042	603	I>V		No	ClinGen TOPMed gnomAD
rs758611363 CA1333053	605	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1478915279 CA344242114	607	D>G		No	ClinGen TOPMed
CA344242132 rs1253191876	608	S>C		No	ClinGen gnomAD
rs936187023 CA35521027	608	S>T		No	ClinGen TOPMed gnomAD
CA344242174 rs1394794312	610	V>G		No	ClinGen TOPMed gnomAD
rs1196376081 CA344242159	610	V>M		No	ClinGen gnomAD
CA1333055 rs747140703	611	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1248736124 CA344242240	614	E>K		No	ClinGen TOPMed
CA1333056 rs376646699	615	K>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA344250484 rs751899270	617	R>S		No	ClinGen ExAC TOPMed gnomAD
CA1333093 rs140298770	619	Y>C		No	ClinGen ESP ExAC gnomAD
CA1333094 rs781389863	621	T>I		No	ClinGen ExAC gnomAD
rs781389863 CA344250508	621	T>S		No	ClinGen ExAC gnomAD
rs1308949419 CA344250513	622	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs370785786 CA1333096	622	P>T		No	ClinGen ESP ExAC gnomAD
rs779950818 CA1333097	623	V>L		No	ClinGen ExAC gnomAD
CA1333098 rs137969929	624	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA1333099 rs541457499	625	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344250549 rs1469427678	626	E>K		No	ClinGen gnomAD
CA1333100 rs777677527	627	E>K		No	ClinGen ExAC gnomAD
CA344250646 rs1179296686	632	R>Q		No	ClinGen TOPMed gnomAD
rs1487681545 CA344250639	632	R>W		No	ClinGen TOPMed gnomAD
rs1472379931 CA344250665	634	A>T		No	ClinGen gnomAD
CA344250677 rs1157236837	635	R>C		No	ClinGen gnomAD
rs561422766 CA1333101	635	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs561422766 CA344250683	635	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1462062836 CA344250692	636	S>C		No	ClinGen TOPMed gnomAD
rs1462062836 CA344250694	636	S>F		No	ClinGen TOPMed gnomAD
CA1333102 rs143021724	639	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs776433557 CA1333103	640	R>Q		No	ClinGen ExAC gnomAD
rs1434272704 CA344250739	640	R>W		No	ClinGen gnomAD
rs759213373 CA1333104	643	R>*	Variant assessed as Somatic; 4.655e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs759213373 CA1333105	643	R>G		No	ClinGen ExAC gnomAD
CA1333123 rs781092613	648	G>V		No	ClinGen ExAC gnomAD
CA344251225 rs1282968251	655	Q>R		No	ClinGen gnomAD
rs142843947 CA1333128	656	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769272088 CA344251236	657	A>S		No	ClinGen ExAC TOPMed gnomAD
CA1333129 rs769272088	657	A>T		No	ClinGen ExAC TOPMed gnomAD
rs761359113 CA1333131	659	R>G		No	ClinGen ExAC TOPMed gnomAD
CA35536521 rs375373708	659	R>K		No	ClinGen ESP TOPMed
rs767122548 CA1333132	661	F>L		No	ClinGen ExAC gnomAD
rs760466118 CA1333134	663	R>Q		No	ClinGen ExAC gnomAD
CA1333133 rs138144893	663	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA1333136 rs201030533	664	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs201030533 CA344251282	664	S>W		No	ClinGen 1000Genomes ExAC gnomAD
CA1333137 rs754861545	668	R>K		No	ClinGen ExAC gnomAD
CA1333139 rs751661434	672	E>D		No	ClinGen ExAC gnomAD
CA1333141 rs757445255	675	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1333140 rs757445255	675	R>G		No	ClinGen ExAC gnomAD
rs746092183 CA1333142	675	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1333143 rs746092183	675	R>L		No	ClinGen ExAC TOPMed gnomAD
CA1333144 rs780277504	676	E>*		No	ClinGen ExAC gnomAD
CA35536573 rs918521930	678	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA1333145 rs749717980	678	P>S		No	ClinGen ExAC gnomAD
TCGA novel	680	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769126822 CA1333146	681	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1247535269 CA344251393	682	E>K		No	ClinGen gnomAD
CA344251423 rs1396590526	686	G>E		No	ClinGen gnomAD
rs747614479 CA1333148	686	G>R		No	ClinGen ExAC gnomAD
rs375200010 CA35536589	687	S>N		No	ClinGen ESP TOPMed
rs1171590862 CA344251432	687	S>R		No	ClinGen gnomAD
rs1304000483 CA344251434	688	P>A		No	ClinGen TOPMed
rs1422596707 CA344251443	689	E>G		No	ClinGen gnomAD
TCGA novel	689	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1333149 rs771589957	690	K>R		No	ClinGen ExAC TOPMed gnomAD
CA344251460 rs1320639484	691	H>R		No	ClinGen gnomAD
rs148592155 CA1333150	693	P>L		No	ClinGen ESP ExAC gnomAD
CA1333152 rs766117310	694	S>L		No	ClinGen ExAC gnomAD
CA1333151 rs760244487	694	S>T		No	ClinGen ExAC gnomAD
CA344251486 rs1373220141	695	A>V		No	ClinGen TOPMed
CA344251491 rs1233010221	696	V>G		No	ClinGen gnomAD
rs1342256006 CA344251521	701	A>P		No	ClinGen gnomAD
CA35536638 rs942504571	704	G>D		No	ClinGen TOPMed
CA344251546 rs1224609522	705	Q>*		No	ClinGen gnomAD
TCGA novel	706	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344251556 rs1558296892	706	Q>R		No	ClinGen Ensembl
CA344251569 rs1267571345	707	P>S		No	ClinGen gnomAD
CA344251582 rs1463605238	708	W>R		No	ClinGen gnomAD
rs1245205950 CA344251606	709	G>D		No	ClinGen gnomAD
rs550486275 CA1333155	713	D>H		No	ClinGen ExAC TOPMed gnomAD
rs550486275 CA344251647	713	D>N		No	ClinGen ExAC TOPMed gnomAD
CA1333156 rs752705540	714	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1471435386 CA344252248	717	I>L		No	ClinGen TOPMed gnomAD
rs1471435386 CA344252249	717	I>V		No	ClinGen TOPMed gnomAD
rs1189412591 CA344252260	718	C>F		No	ClinGen gnomAD
rs372374437 CA1333173	720	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1333175 rs764184578	725	A>V		No	ClinGen ExAC gnomAD
rs146630254 CA1333176	726	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA1333177 rs200836694	728	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA344252337 rs1260237276	730	P>S		No	ClinGen TOPMed gnomAD
rs1416924844 CA344252344	731	T>N		No	ClinGen gnomAD
rs143792888 CA1333180	732	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA344252370 rs1343982908	733	P>L		No	ClinGen gnomAD
rs933353293 CA35537383	733	P>S		No	ClinGen TOPMed gnomAD
rs779249931 CA1333182	737	S>F		No	ClinGen ExAC TOPMed gnomAD
CA344252428 rs1358806634	738	T>A		No	ClinGen TOPMed
CA344252434 rs1273700748	738	T>M		No	ClinGen gnomAD
CA344252450 rs1160687875	740	R>G		No	ClinGen gnomAD
TCGA novel	740	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1189699525 CA344252463	740	R>S		No	ClinGen gnomAD
CA344252467 rs1310354526	741	P>A		No	ClinGen TOPMed
rs1009479799 CA35537389	741	P>L		No	ClinGen TOPMed
CA344252487 rs1185985097	742	S>L		No	ClinGen gnomAD
rs1422760279 CA344252477	742	S>T		No	ClinGen gnomAD
rs746464212 CA1333186	744	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA1333185 rs369147650	744	Y>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1436751905 CA344252600	751	W>L		No	ClinGen gnomAD
TCGA novel	752	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344252743 rs1437460674	762	S>N		No	ClinGen TOPMed
CA1333190 rs769637664	763	S>L		No	ClinGen ExAC TOPMed gnomAD
CA344252764 rs1297882840	764	E>K		No	ClinGen gnomAD
rs370102069 CA35537407	765	T>I		No	ClinGen ESP TOPMed gnomAD
CA344252785 rs370102069	765	T>S		No	ClinGen ESP TOPMed gnomAD
rs1033449715 CA35537408	766	T>I		No	ClinGen TOPMed
CA1333192 rs762889428	767	T>A		No	ClinGen ExAC TOPMed gnomAD
CA344252807 rs1265258036	767	T>R		No	ClinGen TOPMed
rs774110985 CA35537411	768	N>D		No	ClinGen TOPMed
CA344252818 rs768445141	768	N>I		No	ClinGen ExAC gnomAD
CA1333193 rs768445141	768	N>S		No	ClinGen ExAC gnomAD
rs747772262 CA344252827	769	T>A		No	ClinGen Ensembl
rs747772262 CA35537425	769	T>P		No	ClinGen Ensembl
CA1333194 rs774374772	771	T>A		No	ClinGen ExAC gnomAD
rs1490217958 CA344252860	772	A>T		No	ClinGen TOPMed
rs1396558700 CA344252873	773	K>E		No	ClinGen gnomAD
CA344252920 rs1286794565	776	D>N		No	ClinGen TOPMed
CA344252930 rs1256249121	776	D>V		No	ClinGen TOPMed gnomAD
rs1198134930 CA344252992	779	E>G		No	ClinGen TOPMed
rs1309509586 CA344253020	780	N>S		No	ClinGen TOPMed gnomAD
CA35537454 rs984987398	781	E>V		No	ClinGen TOPMed
rs1230676564 CA344253057	782	E>K		No	ClinGen TOPMed gnomAD
CA344253098 rs1572273639	784	D>N		No	ClinGen Ensembl
rs1352586248 CA344253188	787	E>K		No	ClinGen TOPMed gnomAD
rs1558300410 CA344253260	790	S>F		No	ClinGen Ensembl
CA344253290 rs1208603273	792	R>G		No	ClinGen gnomAD
rs1246756014 CA344253320	793	L>P		No	ClinGen gnomAD
CA344253355 rs3817220	795	I>L		No	ClinGen ExAC gnomAD
CA1333213 rs3817220	795	I>V		No	ClinGen ExAC gnomAD
rs1192110653 CA344253378	796	R>*		No	ClinGen TOPMed gnomAD
CA35537474 rs3817221	796	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA344253415 rs1572273852	797	E>D		No	ClinGen Ensembl
CA1333214 rs748116974	798	R>K		No	ClinGen ExAC gnomAD
CA344253429 rs748116974	798	R>T		No	ClinGen ExAC gnomAD
rs1412714639 CA344253460	800	R>Q		No	ClinGen TOPMed gnomAD
rs3817222 CA1333215	800	R>W	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1333217 rs759656210	801	P>R		No	ClinGen ExAC gnomAD
rs1386323597 CA344253471	802	K>Q		No	ClinGen gnomAD
CA1333218 rs765407357	802	K>R		No	ClinGen ExAC gnomAD
CA344253487 rs1293881866	804	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA344253486 rs1293881866	804	R>G		No	ClinGen TOPMed gnomAD
rs145838755 CA1333219	804	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA35537478 rs3817223	805	R>*		No	ClinGen TOPMed gnomAD
rs763171354 CA1333220	805	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs764526389 CA1333221	807	G>D		No	ClinGen ExAC gnomAD
CA1333222 rs751935648	808	T>I		No	ClinGen ExAC gnomAD
CA35537482 rs773074230	808	T>S		No	ClinGen Ensembl
rs1415796107 CA344253512	809	G>D		No	ClinGen TOPMed
CA1333223 rs757769728	810	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	811	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA35537491 rs3817224	814	T>S		No	ClinGen Ensembl
rs767958215 CA1333224	816	D>Y		No	ClinGen ExAC gnomAD
CA344253672 rs1334344464	817	E>Q		No	ClinGen TOPMed
rs1275881167 CA344253762	821	D>E		No	ClinGen gnomAD
CA1333242 rs373730451	821	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs373730451 CA344253745	821	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA35537786 rs1009768561	824	E>A		No	ClinGen Ensembl
rs564830826 CA1333243	824	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs376043408 CA1333244	827	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs765988782 CA1333245	828	E>K		No	ClinGen ExAC TOPMed gnomAD
rs753461459 CA1333246	829	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA344255224 rs1558372683	831	H>R		No	ClinGen Ensembl
rs763695230 CA1333314	832	E>G		No	ClinGen ExAC gnomAD
CA1333315 rs774014282	836	R>G		No	ClinGen ExAC TOPMed gnomAD
VAR_024177 rs3881953 CA1333316	836	R>K		No	ClinGen UniProt ExAC dbSNP gnomAD
CA1333354 rs760332369	839	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1333356 rs377170564	841	G>R		No	ClinGen ESP ExAC gnomAD
CA344255975 rs1184433934	844	P>T		No	ClinGen gnomAD
TCGA novel	845	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751659528 CA1333360	847	S>R		No	ClinGen ExAC gnomAD
CA1333359 rs765315212	847	S>T		No	ClinGen ExAC gnomAD
CA344256054 rs1335331500	849	S>C		No	ClinGen TOPMed
CA528124044 rs1459228731	850	Y>*		No	ClinGen gnomAD
rs375992469 CA344256067	850	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA1333361 rs761986722	850	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA1333363 rs200041515	851	G>S		No	ClinGen ExAC TOPMed gnomAD
CA1333364 rs143671741	851	G>V		No	ClinGen ESP ExAC
rs780392889 CA35547406	853	R>G		No	ClinGen ExAC TOPMed gnomAD
rs148326186 CA1333366	853	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs780392889 CA1333365	853	R>W		No	ClinGen ExAC TOPMed gnomAD
CA1333367 rs150829491	857	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1333368 rs150829491	857	R>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1333369 rs747568168	858	A>S		No	ClinGen ExAC gnomAD
CA1333371 rs769365526	859	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs746671837 CA1333372	859	R>H		No	ClinGen ExAC TOPMed gnomAD
rs770769838 CA35547429	860	R>G		No	ClinGen ExAC TOPMed gnomAD
rs139554415 CA1333376	860	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA1333375 rs139554415	860	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs770769838 CA1333374	860	R>W		No	ClinGen ExAC TOPMed gnomAD
rs769814509 CA1333377	861	E>A		No	ClinGen ExAC
CA1333379 rs200358617	863	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs146166453 CA1333378	863	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA1333380 rs145788398	864	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs893983519 CA344256216	864	E>K		No	ClinGen gnomAD
CA35547441 rs893983519	864	E>Q		No	ClinGen gnomAD
rs1572517904 CA344256241	865	A>V		No	ClinGen Ensembl
rs750534932 CA1333381	866	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1333382 rs377041703	866	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA1333383 rs377041703	866	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	868	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1333384 rs754165779	870	L>P		No	ClinGen ExAC gnomAD
CA1333385 rs754165779	870	L>Q		No	ClinGen ExAC gnomAD
CA344256293 rs1370586564	872	S>N		No	ClinGen gnomAD
rs753256240 CA1333387	873	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1333388 rs142096099	873	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA1333392 rs573782383	876	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1275592016 CA344256327	877	D>G		No	ClinGen gnomAD
rs779529559 CA1333393	879	N>K		No	ClinGen ExAC gnomAD
CA1333395 rs769726443	881	D>V		No	ClinGen ExAC gnomAD
rs1459337882 CA344256930	885	L>P		No	ClinGen gnomAD
rs765429736 CA1333421	886	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs966184491 CA35548060	888	S>N		No	ClinGen TOPMed gnomAD
rs775897283 CA1333422	888	S>R		No	ClinGen ExAC gnomAD
rs556296469 CA1333423	889	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1333424 rs764614330	890	L>V		No	ClinGen ExAC gnomAD
rs761342089 CA1333426	893	N>Y		No	ClinGen ExAC gnomAD
CA344256985 rs1558380720	894	Q>*		No	ClinGen Ensembl
CA1333427 rs767129129	900	L>F		No	ClinGen ExAC gnomAD
rs750010884 CA1333428	901	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs994333036 CA35548088	901	Q>R		No	ClinGen TOPMed
CA1333429 rs755805353	903	A>V		No	ClinGen ExAC gnomAD
rs775180242 CA1333431	904	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1026770965 CA35548102	910	I>M		No	ClinGen gnomAD
CA344257092 rs1489312495	910	I>T		No	ClinGen TOPMed gnomAD
CA35548098 rs747686262	910	I>V		No	ClinGen TOPMed
CA35548106 rs780935071	911	K>N		No	ClinGen Ensembl
rs367803182 CA1333432	913	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1198050137 CA344257120	915	E>K		No	ClinGen gnomAD
CA1333433 rs778849793	916	K>N		No	ClinGen ExAC gnomAD
rs748080402 CA1333434	918	A>T		No	ClinGen ExAC TOPMed gnomAD
CA1333453 rs371515583	920	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA344257589 rs1161276483	925	T>I		No	ClinGen gnomAD
CA35549591 rs968112944	928	R>*		No	ClinGen TOPMed
CA344257628 rs745900024	928	R>L		No	ClinGen ExAC TOPMed
rs745900024 CA1333455	928	R>Q		No	ClinGen ExAC TOPMed
CA35549617 rs886390468	930	S>A		No	ClinGen TOPMed
rs780257688 CA1333457	931	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1333458 rs770174106	932	L>Q		No	ClinGen ExAC gnomAD
rs1462736919 CA344257674	933	E>K		No	ClinGen gnomAD
CA344257676 rs1462736919	933	E>Q		No	ClinGen gnomAD
CA344257684 rs1167344197	933	E>V		No	ClinGen gnomAD
TCGA novel	935	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	937	R>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375768989 CA1333461	937	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs774833034 CA1333460	937	R>W		No	ClinGen ExAC gnomAD
rs1481578985 CA344257855	939	R>K		No	ClinGen gnomAD
rs771519753 CA1333483	940	R>*		No	ClinGen ExAC gnomAD
rs775975689 CA344257871	940	R>P		No	ClinGen ExAC TOPMed gnomAD
rs775975689 CA1333484	940	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA344257882 rs1480031692	941	A>V		No	ClinGen TOPMed gnomAD
rs147644192 CA1333485	943	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs764825772 CA1333486	944	R>C		No	ClinGen ExAC TOPMed gnomAD
rs775137843 CA1333487	944	R>H		No	ClinGen ExAC TOPMed gnomAD
rs775137843 CA35550380	944	R>L		No	ClinGen ExAC TOPMed gnomAD
CA1333488 rs762670487	945	K>E		No	ClinGen ExAC gnomAD
CA344257930 rs1239581912	945	K>N		No	ClinGen gnomAD
CA1333489 rs763873140	945	K>R		No	ClinGen ExAC gnomAD
rs1406405646 CA344257945	946	M>I		No	ClinGen TOPMed gnomAD
rs1227953606 CA344257968	948	E>A		No	ClinGen TOPMed
CA1333490 rs781721137	948	E>D		No	ClinGen ExAC TOPMed gnomAD
CA1333491 rs757117719	949	M>V		No	ClinGen ExAC gnomAD
CA35550401 rs957845306	950	E>G		No	ClinGen Ensembl
rs548061334 CA1333492	951	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1399399227 CA344258047	953	M>T		No	ClinGen gnomAD
rs199650398 CA1333550	957	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199650398 CA35559124	957	T>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	958	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	962	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1333553 rs774355384	962	D>N		No	ClinGen ExAC gnomAD
rs1313591406 CA344253104	963	N>H		No	ClinGen TOPMed
rs1334250130 CA344253123	964	Q>*		No	ClinGen gnomAD
rs1342835399 CA344253144	965	R>K		No	ClinGen TOPMed gnomAD
TCGA novel	970	N>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1284769918 CA344253271	971	G>A		No	ClinGen gnomAD
rs1040525086 CA35559145	971	G>C		No	ClinGen Ensembl
rs758970519 CA35559149	973	L>F		No	ClinGen Ensembl
CA344253315 rs1446008875	974	I>F		No	ClinGen gnomAD
CA1333555 rs767675775	976	V>D		No	ClinGen ExAC gnomAD
CA1333556 rs142913064	980	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1333558 rs766809903	981	S>P		No	ClinGen ExAC gnomAD
CA344253432 rs1245477416	981	S>Y		No	ClinGen gnomAD
CA1333559 rs200433666	982	K>N		No	ClinGen 1000Genomes ExAC gnomAD

No associated diseases with O60237

3 regional properties for O60237

Type	Name	Position	InterPro Accession
repeat	Ankyrin repeat	56 - 155	IPR002110-1
repeat	Ankyrin repeat	209 - 281	IPR002110-2
domain	cGMP-dependent protein kinase, interacting domain	881 - 982	IPR031775

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytoskeleton Cytoplasm, cytoskeleton, stress fiber	Along actomyosin filaments
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
A band	The dark-staining region of a sarcomere, in which myosin thick filaments are present; the center is traversed by the paler H zone, which in turn contains the M line.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
Z disc	Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached.

4 GO annotations of molecular function

Name	Definition
enzyme activator activity	Binds to and increases the activity of an enzyme.
enzyme inhibitor activity	Binds to and stops, prevents or reduces the activity of an enzyme.
phosphatase regulator activity	Binds to and modulates the activity of a phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a substrate molecule.
protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.

2 GO annotations of biological process

Name	Definition
regulation of muscle contraction	Any process that modulates the frequency, rate or extent of muscle contraction.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9BZL4	PPP1R12C	Protein phosphatase 1 regulatory subunit 12C	Homo sapiens (Human)	PR
Q96T49	PPP1R16B	Protein phosphatase 1 regulatory inhibitor subunit 16B	Homo sapiens (Human)	PR
Q8BG95	Ppp1r12b	Protein phosphatase 1 regulatory subunit 12B	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAELEHLGGK	RAESARMRRA	EQLRRWRGSL	TEQEPAERRG	AGRQPLTRRG	SPRVRFEDGA
70	80	90	100	110	120
VFLAACSSGD	TDEVRKLLAR	GADINTVNVD	GLTALHQACI	DENLDMVKFL	VENRANVNQQ
130	140	150	160	170	180
DNEGWTPLHA	AASCGYLNIA	EYFINHGASV	GIVNSEGEVP	SDLAEEPAMK	DLLLEQVKKQ
190	200	210	220	230	240
GVDLEQSRKE	EEQQMLQDAR	QWLNSGKIED	VRQARSGATA	LHVAAAKGYS	EVLRLLIQAG
250	260	270	280	290	300
YELNVQDYDG	WTPLHAAAHW	GVKEACSILA	EALCDMDIRN	KLGQTPFDVA	DEGLVEHLEL
310	320	330	340	350	360
LQKKQNVLRS	EKETRNKLIE	SDLNSKIQSG	FFKNKEKMLY	EEETPKSQEM	EEENKESSSS
370	380	390	400	410	420
SSEEEEGEDE	ASESETEKEA	DKKPEAFVNH	SNSESKSSIT	EQIPAPAQNT	FSASSARRFS
430	440	450	460	470	480
SGLFNKPEEP	KDESPSSWRL	GLRKTGSHNM	LSEVANSREP	IRDRGSSIYR	SSSSPRISAL
490	500	510	520	530	540
LDNKDKEREN	KSYISSLAPR	KLNSTSDIEE	KENRESAVNL	VRSGSYTRQL	WRDEAKGNEI
550	560	570	580	590	600
PQTIAPSTYV	STYLKRTPHK	SQADTTAEKT	ADNVSSSTPL	CVITNRPLPS	TANGVTATPV
610	620	630	640	650	660
LSITGTDSSV	EAREKRRSYL	TPVRDEEAES	LRKARSRQAR	QTRRSTQGVT	LTDLQEAERT
670	680	690	700	710	720
FSRSRAERQA	QEQPREKPTD	TEGLEGSPEK	HEPSAVPATE	AGEGQQPWGR	SLDEEPICHR
730	740	750	760	770	780
LRCPAQPDKP	TTPASPSTSR	PSLYTSSHLL	WTNRFSVPDS	ESSETTTNTT	TAKEMDKNEN
790	800	810	820	830	840
EEADLDEQSS	KRLSIRERRR	PKERRRGTGI	NFWTKDEDET	DGSEEVKETW	HERLSRLESG
850	860	870	880	890	900
GSNPTTSDSY	GDRASARARR	EAREARLATL	TSRVEEDSNR	DYKKLYESAL	TENQKLKTKL
910	920	930	940	950	960
QEAQLELADI	KSKLEKVAQQ	KQEKTSDRSS	VLEMEKRERR	ALERKMSEME	EEMKVLTELK
970	980
SDNQRLKDEN	GALIRVISKL	SK