AiPD: Autoinhibited Protein Database

O43301

Gene name	HSPA12A (KIAA0417)
Protein name	Heat shock 70 kDa protein 12A
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:259217
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-65 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-65 (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 O43301

Entry ID	Method	Resolution	Chain	Position	Source
AF-O43301-F1	Predicted				AlphaFoldDB

486 variants for O43301

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA378499342 rs1554887339	6	A>T		No	ClinGen gnomAD
CA378499315 rs1221968728	8	G>S		No	ClinGen TOPMed
rs1265201524 CA378499303	9	S>R		No	ClinGen TOPMed
rs1462097927 CA378499298	9	S>T		No	ClinGen TOPMed
CA378499283 rs1198399911	10	D>A		No	ClinGen TOPMed
rs1248793492 CA378499272	11	G>W		No	ClinGen TOPMed gnomAD
CA378499260 rs1183101070	12	P>S		No	ClinGen TOPMed
CA378499262 rs1183101070	12	P>T		No	ClinGen TOPMed
rs1245669660 CA378499254	13	R>G		No	ClinGen TOPMed
rs781995893 CA5708764	13	R>Q		No	ClinGen ExAC gnomAD
CA378499246 rs1554887321	14	E>K		No	ClinGen gnomAD
rs61738958 CA5708749	15	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782775722 CA5708748	17	P>A		No	ClinGen ExAC gnomAD
rs782112808 CA5708747	18	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1554882598 CA378494525	23	S>F		No	ClinGen gnomAD
CA378494514 rs1401905234	24	P>L		No	ClinGen TOPMed gnomAD
CA378494511 rs1564788973	25	A>T		No	ClinGen Ensembl
rs187384662 CA5708743	26	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5708742 rs187384662	26	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782065581 CA5708744	26	R>W		No	ClinGen ExAC TOPMed gnomAD
CA378494472 rs1322668745	27	S>C		No	ClinGen TOPMed
CA214633196 rs916510692	28	L>I		No	ClinGen Ensembl
rs781837282 CA214633191	28	L>P		No	ClinGen Ensembl
TCGA novel	30	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378494307 rs1554882593	33	I>M		No	ClinGen gnomAD
CA5708741 rs782259442	34	T>M		No	ClinGen ExAC TOPMed gnomAD
rs782424106 CA5708739	37	S>F		No	ClinGen ExAC gnomAD
TCGA novel	37	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378494204 rs1554882587	38	P>S		No	ClinGen gnomAD
CA378494166 rs1193674525	40	H>D		No	ClinGen TOPMed gnomAD
CA378494152 rs1589647883	40	H>P		No	ClinGen Ensembl
CA378494158 rs1193674525	40	H>Y		No	ClinGen TOPMed gnomAD
rs782283157 CA5708738	41	I>T		No	ClinGen ExAC TOPMed gnomAD
CA378494086 rs1164963879	42	V>M		No	ClinGen TOPMed gnomAD
rs782515117 CA5708689	43	N>D		No	ClinGen ExAC TOPMed gnomAD
CA378493684 rs782515117	43	N>H		No	ClinGen ExAC TOPMed gnomAD
rs61742078 CA378493668	43	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782810800 CA5708687	44	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs782810800 CA378493656	44	D>Y		No	ClinGen ExAC gnomAD
rs782066422 CA5708686	45	T>S		No	ClinGen ExAC
CA5708684 rs782750330	47	S>F		No	ClinGen ExAC gnomAD
CA378493598 rs1554882240	48	N>D		No	ClinGen gnomAD
rs782056784 CA5708683	48	N>S		No	ClinGen ExAC TOPMed gnomAD
CA214631501 rs995723507	49	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1554882237 CA378493460	54	S>P		No	ClinGen TOPMed gnomAD
rs1479463969 CA378493410	56	L>F		No	ClinGen TOPMed
CA378493395 rs782153649	57	V>L		No	ClinGen ExAC TOPMed gnomAD
rs782153649 CA5708680	57	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5708678 rs576718792	60	A>S		No	ClinGen 1000Genomes ExAC
rs201440070 CA5708675	61	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378493301 rs1431433773	62	D>Y		No	ClinGen TOPMed
CA214631438 rs1041372685	69	G>A		No	ClinGen Ensembl
TCGA novel	69	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378493160 rs1480638222	69	G>S		No	ClinGen TOPMed
rs1554882219 CA378493138	70	Y>C		No	ClinGen gnomAD
CA5708674 rs782342075	71	A>T		No	ClinGen ExAC
CA378493044 rs1554882214	75	T>A		No	ClinGen gnomAD
CA378492992 rs1554882213	77	E>D		No	ClinGen gnomAD
rs782528293 CA5708671	78	P>L		No	ClinGen ExAC gnomAD
CA378492987 rs1564787694	78	P>S		No	ClinGen Ensembl
rs1554882210 CA378492968	79	E>A		No	ClinGen gnomAD
CA5708668 rs782494350	81	I>T		No	ClinGen ExAC gnomAD
rs1554882209 CA378492892	82	H>Y		No	ClinGen gnomAD
CA378492828 rs1554882206	85	R>M		No	ClinGen gnomAD
CA378491122 rs1243832385	86	R>Q		No	ClinGen TOPMed gnomAD
CA378491120 rs1475605403	87	W>R		No	ClinGen TOPMed
rs782230134 CA5708652	88	E>A		No	ClinGen ExAC gnomAD
rs1187005489 CA378491053	89	G>R		No	ClinGen TOPMed
CA5708651 rs782613611	91	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs61745196 CA5708650	96	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782529182 CA5708646	101	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs781798853 CA5708645	102	T>I		No	ClinGen ExAC gnomAD
rs1554881585 CA378490778	103	I>V		No	ClinGen gnomAD
TCGA novel	105	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5708643 rs372144587	107	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1432152893 CA378490695	108	E>G		No	ClinGen TOPMed
CA5708642 rs781817907	108	E>K		No	ClinGen ExAC TOPMed gnomAD
rs202076805 CA5708641	110	K>T		No	ClinGen ExAC gnomAD
CA378490627 rs1554881574	111	F>I		No	ClinGen gnomAD
CA5708639 rs782020017	115	G>A		No	ClinGen ExAC TOPMed gnomAD
CA378490527 rs1234674838	115	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs782056722 CA5708637	118	A>T		No	ClinGen ExAC TOPMed gnomAD
CA378490446 rs1286219139	118	A>V		No	ClinGen TOPMed
TCGA novel	122	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554881561 CA378490369	123	H>R		No	ClinGen gnomAD
TCGA novel	123	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378490325 rs1554881560	126	D>V		No	ClinGen gnomAD
CA5708636 rs781972660	128	N>S		No	ClinGen ExAC TOPMed gnomAD
CA378490282 rs1554881559	129	E>G		No	ClinGen gnomAD
CA378490263 rs1210099927	131	K>Q		No	ClinGen TOPMed
TCGA novel	131	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378490240 rs1255059357	132	Q>P		No	ClinGen TOPMed gnomAD
CA378490213 rs1554881558	133	W>*		No	ClinGen gnomAD
CA214629009 rs182257498	140	K>E		No	ClinGen 1000Genomes
rs782263094 CA5708634	140	K>R		No	ClinGen ExAC gnomAD
rs782263094 CA378489908	140	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1554881553 CA378489894	141	M>T		No	ClinGen gnomAD
CA5708632 rs782430403	144	H>R		No	ClinGen ExAC TOPMed gnomAD
rs781991080 CA5708633	144	H>Y		No	ClinGen ExAC gnomAD
CA5708631 rs782275184	146	T>I		No	ClinGen ExAC gnomAD
CA5708609 rs782433987	149	L>F		No	ClinGen ExAC TOPMed gnomAD
CA5708608 rs782192754	151	M>T		No	ClinGen ExAC TOPMed gnomAD
rs782489280 CA5708606	152	D>G		No	ClinGen ExAC
rs782570760 CA5708607	152	D>N		No	ClinGen ExAC gnomAD
CA378509814 rs1564784762	153	T>I		No	ClinGen Ensembl
rs782656724 CA5708604	154	D>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5708605 rs782656724	154	D>G		No	ClinGen ExAC gnomAD
rs880002475 CA378509807	154	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA5708602 rs781909394	156	T>M		No	ClinGen ExAC TOPMed gnomAD
CA378509707 rs1398920250	160	G>V		No	ClinGen TOPMed
TCGA novel	162	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554881213 CA378509637	164	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs781784578 CA5708599	165	A>T		No	ClinGen ExAC gnomAD
rs944688147 CA214659919	166	L>F		No	ClinGen Ensembl
rs912507008 CA214659917	169	F>I		No	ClinGen Ensembl
rs1554881200 CA378509519	171	Y>C		No	ClinGen gnomAD
CA378509443 rs1377333802	176	F>C		No	ClinGen TOPMed gnomAD
CA378509434 rs1589639225	177	K>E		No	ClinGen Ensembl
TCGA novel	177	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs529105578 CA214659905	178	E>G		No	ClinGen Ensembl
CA214659902 rs782191373	180	A>V		No	ClinGen TOPMed gnomAD
rs782017109 CA5708593	182	K>E		No	ClinGen ExAC gnomAD
rs1554881190 CA378509348	182	K>T		No	ClinGen gnomAD
CA378507737 rs1554880278	183	E>K		No	ClinGen gnomAD
CA5708575 rs782344400	185	S>N		No	ClinGen ExAC gnomAD
CA378507683 rs1256033864	186	D>N		No	ClinGen TOPMed gnomAD
CA378507645 rs1047363608	188	A>E		No	ClinGen TOPMed gnomAD
CA214657384 rs1047363608	188	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs782137661 CA5708574	190	S>L		No	ClinGen ExAC TOPMed gnomAD
rs376851854 CA214657361	193	E>K		No	ClinGen ESP TOPMed
rs782425523 CA5708572	194	N>S		No	ClinGen ExAC gnomAD
rs1554880263 CA378507593	196	D>G		No	ClinGen gnomAD
CA5708571 rs372276973	198	R>S		No	ClinGen ESP ExAC
TCGA novel	199	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	201	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5708569 rs782300469	202	T>A		No	ClinGen ExAC gnomAD
rs200364186 CA5708568	202	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs371208406 CA5708566	205	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	205	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5708565 rs782245819	209	Q>E		No	ClinGen ExAC gnomAD
CA5708564 rs782680311	210	P>L		No	ClinGen ExAC TOPMed gnomAD
rs868931909 CA378507500	210	P>S		No	ClinGen Ensembl
rs781809567 CA5708562	211	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	215	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782761196 CA5708561	215	M>T		No	ClinGen ExAC TOPMed gnomAD
CA378507448 rs1311784855	217	Q>H		No	ClinGen TOPMed
CA214657325 rs950326665	217	Q>K		No	ClinGen Ensembl
rs782466628 CA5708560	221	Q>E		No	ClinGen ExAC gnomAD
TCGA novel	221	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781875000 CA5708559	221	Q>R		No	ClinGen ExAC
CA5708536 rs782739326	222	A>V		No	ClinGen ExAC gnomAD
CA378506578 rs1554879135	223	G>V		No	ClinGen gnomAD
CA378506553 rs1589625215	226	S>Y		No	ClinGen Ensembl
CA5708535 rs782077528	227	P>R		No	ClinGen ExAC gnomAD
CA378506545 rs1554879131	227	P>S		No	ClinGen gnomAD
rs201043111 CA5708532	228	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed
rs1554879124 CA378506510	229	N>I		No	ClinGen gnomAD
CA378506506 rs1554879122	229	N>K		No	ClinGen gnomAD
rs371819716 CA5708531	230	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	230	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371819716 CA378506495	230	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA378506454 rs1340138701	232	Q>H		No	ClinGen TOPMed
rs1324523550 CA378506457	232	Q>R		No	ClinGen TOPMed gnomAD
rs1280209962 CA378506440	233	L>P		No	ClinGen TOPMed gnomAD
CA378506446 rs1398154073	233	L>V		No	ClinGen TOPMed
CA214653316 rs887992136	234	I>F		No	ClinGen Ensembl
CA378506403 rs1554879107	235	I>T		No	ClinGen gnomAD
rs782327414 CA5708528	240	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5708527 rs375461005	241	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	242	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1564775839 CA378506281	244	I>N		No	ClinGen Ensembl
CA5708525 rs368255966	244	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	245	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5708524 rs782244351	247	R>*		No	ClinGen ExAC gnomAD
CA214653252 rs782686950	247	R>L		No	ClinGen ExAC gnomAD
rs782686950 CA5708523	247	R>Q		No	ClinGen ExAC gnomAD
CA378506227 rs1195155414	250	R>Q		No	ClinGen TOPMed gnomAD
rs1487123873 CA378506229	250	R>W		No	ClinGen TOPMed
CA5708519 rs782495836	252	H>N		No	ClinGen ExAC TOPMed gnomAD
rs782495836 CA5708520	252	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs781833516 CA5708518	253	Q>H		No	ClinGen ExAC gnomAD
rs1554879084 CA378506192	255	I>M		No	ClinGen gnomAD
rs782657038 CA5708517	256	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1554879082 CA378506191	256	E>Q		No	ClinGen gnomAD
rs1554879077 CA378506150	261	A>V		No	ClinGen gnomAD
rs782064654 CA5708513	263	V>I		No	ClinGen ExAC gnomAD
CA5708512 rs781791082	264	N>D		No	ClinGen ExAC TOPMed gnomAD
CA378506135 rs1369964805	264	N>S		No	ClinGen TOPMed
CA5708510 rs370309428	265	G>A		No	ClinGen ESP ExAC gnomAD
CA5708511 rs370309428	265	G>E		No	ClinGen ESP ExAC gnomAD
rs372981337 CA214653189	266	Y>H		No	ClinGen ESP gnomAD
rs1360086347 CA378506117	267	S>N		No	ClinGen TOPMed gnomAD
rs781929997 CA5708506	268	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5708503 rs782609994	273	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1554879058 CA378506071	274	A>V		No	ClinGen gnomAD
rs1311274453 CA378506052	277	T>S		No	ClinGen TOPMed
rs1342792797 CA378506046	278	Q>*		No	ClinGen TOPMed
TCGA novel	278	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376261288 CA5708501	278	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1364481353 CA378504718	283	I>V		No	ClinGen TOPMed
CA5708467 rs558888605	284	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5708466 rs539181870	284	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs539181870 CA378504712	284	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs558888605 CA5708468	284	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1554878676 CA378504708	285	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5708464 rs200867772	285	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5708465 rs200867772	285	R>P		No	ClinGen ExAC TOPMed gnomAD
CA5708462 rs782338580	287	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1293236028 CA378504688	288	Q>H		No	ClinGen TOPMed
CA5708459 rs782030204	290	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5708461 rs570066842	290	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA5708458 rs782415580	291	T>N		No	ClinGen ExAC gnomAD
CA378504673 rs1229974481	291	T>S		No	ClinGen TOPMed
CA5708457 rs782197303	292	F>V		No	ClinGen ExAC gnomAD
CA378504658 rs1490187913	293	L>F		No	ClinGen TOPMed
rs1220394579 CA378504654	294	V>L		No	ClinGen TOPMed
rs782563488 CA5708456	295	E>G		No	ClinGen ExAC gnomAD
CA5708455 rs369979893	296	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5708454 rs782208977	298	I>L		No	ClinGen ExAC gnomAD
rs199615590 CA5708452	301	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1589622676 CA378504603	302	W>R		No	ClinGen Ensembl
rs781909167 CA5708451	303	S>F		No	ClinGen ExAC gnomAD
rs199981914 CA214651906	304	E>Q		No	ClinGen 1000Genomes
rs782456320 CA5708449	307	E>K		No	ClinGen ExAC gnomAD
CA378504548 rs1554878568	308	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA214651646 rs782085867	309	D>N		No	ClinGen Ensembl
CA378504531 rs1554878564	310	K>N		No	ClinGen gnomAD
CA378504522 rs1554878559	312	V>M		No	ClinGen gnomAD
CA5708428 rs782489411	313	V>A		No	ClinGen ExAC TOPMed gnomAD
CA378504511 rs781827668	314	V>L		No	ClinGen ExAC gnomAD
CA5708427 rs781827668	314	V>M		No	ClinGen ExAC gnomAD
TCGA novel	315	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5708426 rs782652726	316	S>N		No	ClinGen ExAC gnomAD
CA378504483 rs868908631	318	G>C		No	ClinGen Ensembl
CA378504464 rs1554878548	321	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs781974587 CA5708422	321	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1589622130 CA378504459	322	D>A		No	ClinGen Ensembl
rs781830686 CA5708421	324	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA378504362 rs376082912	329	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs376082912 CA5708418	329	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs188276880 CA5708419	329	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5708417 rs782430687	331	P>L		No	ClinGen ExAC TOPMed gnomAD
CA378504344 rs1589622088	331	P>T		No	ClinGen Ensembl
rs1554878524 CA378504330	332	E>K		No	ClinGen gnomAD
CA5708415 rs781945950	333	G>A		No	ClinGen ExAC gnomAD
CA5708414 rs576256006	339	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs782231103 CA5708413	340	K>I		No	ClinGen ExAC gnomAD
CA5708396 rs782746967	344	G>R		No	ClinGen ExAC gnomAD
rs782127907 CA5708395	346	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1051406561 CA214650899	351	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	352	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781918083 CA5708391	356	E>K	Variant assessed as Somatic; 4.638e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5708387 rs1554878311	358	L>F		No	ClinGen Ensembl
TCGA novel	360	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378504005 rs1564773287	360	Y>S		No	ClinGen Ensembl
CA5708385 rs782506966	361	K>E		No	ClinGen ExAC gnomAD
rs61753067 CA5708384	365	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378503972 rs1199936546	365	E>K		No	ClinGen TOPMed
CA378503910 rs1444211465	373	I>L		No	ClinGen TOPMed gnomAD
rs782461502 CA5708382	375	R>C		No	ClinGen ExAC gnomAD
CA5708381 rs781799434	375	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1564773235 CA378503887	376	P>L		No	ClinGen Ensembl
rs1554878297 CA378503875	378	A>G		No	ClinGen gnomAD
CA378503874 rs1554878297	378	A>V		No	ClinGen gnomAD
rs782466965 CA5708379	380	V>I		No	ClinGen ExAC gnomAD
CA5708378 rs781872827	382	L>*		No	ClinGen ExAC gnomAD
rs1589620637 CA378503847	382	L>F		No	ClinGen Ensembl
rs1412217192 CA378503833	384	I>T		No	ClinGen TOPMed
CA5708377 rs374166494	384	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554878294 CA378503826	385	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1554878290 CA378503823	386	F>L		No	ClinGen gnomAD
CA378503815 rs1554878289	387	E>Q		No	ClinGen TOPMed
CA5708375 rs781934341	389	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1403649602 CA378503782	392	A>T		No	ClinGen TOPMed
rs368507473 CA5708374	392	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378503777 rs535724982	393	A>P		No	ClinGen 1000Genomes ExAC gnomAD
rs535724982 CA5708372	393	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1554878278 CA378503762	395	P>R		No	ClinGen gnomAD
rs1348608700 CA378503756	396	D>G		No	ClinGen TOPMed gnomAD
TCGA novel	396	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5708368 rs782408049	403	I>T		No	ClinGen ExAC TOPMed gnomAD
rs77942176 CA214650786	404	T>I		No	ClinGen 1000Genomes gnomAD
CA378503691 rs1232729651	406	P>L		No	ClinGen TOPMed
CA5708367 rs782207349	410	I>T		No	ClinGen ExAC TOPMed gnomAD
CA5708365 rs61741265	417	R>C		No	ClinGen ExAC TOPMed gnomAD
rs782219344 CA5708364	417	R>H		No	ClinGen ExAC TOPMed gnomAD
CA378503537 rs782219344	417	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5708362 rs782513391	418	G>R		No	ClinGen ExAC TOPMed gnomAD
rs781903901 CA5708361	419	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA214650762 rs993435166	422	E>D		No	ClinGen gnomAD
rs782431209 CA5708359	424	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1167457701 CA378503423	426	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA5708357 rs782128836	426	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA214649193 rs373264624	430	V>M		No	ClinGen ESP TOPMed
rs1554877733 CA378503091	434	K>T		No	ClinGen gnomAD
CA5708324 rs371358207	442	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs782368186 CA5708325	442	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs782663497 CA5708323	443	M>I		No	ClinGen ExAC TOPMed gnomAD
CA5708322 rs782446909	444	S>N		No	ClinGen ExAC gnomAD
rs1554877726 CA378503009	446	D>G		No	ClinGen gnomAD
CA378502999 rs1396122563	448	M>V		No	ClinGen TOPMed
CA378502979 rs575016908	450	A>G		No	ClinGen ExAC TOPMed gnomAD
CA5708319 rs782487879	450	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5708318 rs575016908	450	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	453	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554877720 CA378502960	453	K>R		No	ClinGen gnomAD
CA5708317 rs782777572	454	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA214649163 rs563208781	455	T>I		No	ClinGen 1000Genomes gnomAD
CA378502948 rs563208781	455	T>N		No	ClinGen 1000Genomes gnomAD
rs781955087 CA378502942	456	I>M		No	ClinGen ExAC TOPMed gnomAD
rs782096899 CA5708313	456	I>T		No	ClinGen ExAC gnomAD
rs201730028 CA5708314	456	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs782107484 CA5708310	457	D>E		No	ClinGen ExAC TOPMed gnomAD
rs199760082 CA5708311	457	D>N	Variant assessed as Somatic; 0.0003757 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs782024633 CA5708309	458	S>N		No	ClinGen ExAC TOPMed gnomAD
rs782401482 CA5708308	459	I>N		No	ClinGen ExAC
rs782193625 CA5708307	460	I>V		No	ClinGen ExAC TOPMed gnomAD
rs781824167 CA214649115	461	E>G		No	ClinGen gnomAD
TCGA novel	463	L>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	463	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5708283 rs782194862	464	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5708305 rs781927735	464	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782341553 CA5708281	465	D>N		No	ClinGen ExAC TOPMed gnomAD
CA5708280 rs782263803	466	L>V		No	ClinGen ExAC TOPMed gnomAD
CA378502859 rs1554877552	468	Q>E		No	ClinGen gnomAD
CA378502848 rs1554877549	469	K>R		No	ClinGen gnomAD
CA5708278 rs782537687	471	E>K		No	ClinGen ExAC TOPMed gnomAD
rs950575069 CA214648656	473	S>F		No	ClinGen Ensembl
CA5708277 rs368063082	475	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5708276 rs782572296	476	K>M		No	ClinGen ExAC gnomAD
CA378502796 rs1554877533	477	F>L		No	ClinGen gnomAD
CA5708275 rs782443818	478	L>I		No	ClinGen ExAC
rs1172190761 CA378502776	481	V>M		No	ClinGen TOPMed
CA5708272 rs782143536	485	A>V		No	ClinGen ExAC gnomAD
CA378502738 rs1399656806	486	E>D		No	ClinGen TOPMed gnomAD
rs782819530 CA5708270	486	E>K		No	ClinGen ExAC TOPMed gnomAD
rs782144407 CA5708269	487	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1033829945 CA214648570	488	P>S		No	ClinGen TOPMed gnomAD
rs1272713531 CA378502711	490	L>V		No	ClinGen TOPMed
CA378502704 rs1554877514	491	Q>K		No	ClinGen gnomAD
CA5708266 rs374696720	493	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5708264 rs782295674	494	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5708263 rs782295674	494	V>M		No	ClinGen ExAC TOPMed gnomAD
rs782659836 CA5708262	496	A>S		No	ClinGen ExAC gnomAD
rs782318508 CA5708261	497	A>T		No	ClinGen ExAC gnomAD
TCGA novel	499	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1200420908 CA378502592	500	D>H		No	ClinGen TOPMed gnomAD
rs1554877508 CA378502566	501	Q>H		No	ClinGen gnomAD
rs782621389 CA5708259	503	R>G		No	ClinGen ExAC gnomAD
rs782470572 CA5708258	503	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA378502520 rs1196560388	505	I>T		No	ClinGen TOPMed
rs1432371974 CA378502525	505	I>V		No	ClinGen TOPMed
rs1379154810 CA378502515	506	I>F		No	ClinGen TOPMed
TCGA novel	508	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5708255 rs782554418	510	V>M	Variant assessed as Somatic; 4.657e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA378502453 rs1554877494	511	G>R		No	ClinGen gnomAD
rs200435778 CA5708252	514	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554877485 CA378502408	516	K>N		No	ClinGen gnomAD
rs1397920689 CA378502403	517	G>S		No	ClinGen TOPMed gnomAD
rs1386712185 CA378502390	518	A>V		No	ClinGen TOPMed
CA5708249 rs566065107	519	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5708245 rs781915475	522	G>A		No	ClinGen ExAC gnomAD
rs1333216452 CA378502329	523	L>R		No	ClinGen TOPMed
CA378502325 rs202107187	524	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA5708243 rs202107187	524	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1277223371 CA378502308	525	P>S		No	ClinGen TOPMed
CA5708241 rs200715815	526	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378502295 rs1554877456	526	A>V		No	ClinGen gnomAD
rs1564770460 CA378502285	527	V>D		No	ClinGen Ensembl
CA5708240 rs782302172	528	I>N		No	ClinGen ExAC gnomAD
rs782645684 CA5708239	531	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs201237054 CA5708238	531	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs201237054 CA378502233	531	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378502240 rs782645684	531	R>S		No	ClinGen ExAC gnomAD
CA5708236 rs782629136	532	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5708237 rs782186172	532	R>W		No	ClinGen ExAC gnomAD
rs1269136465 CA378502223	533	S>L		No	ClinGen TOPMed gnomAD
CA5708234 rs781852527	534	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA378502190 rs1554877430	536	T>I		No	ClinGen gnomAD
rs1172828492 CA378502171	538	G>R	Variant assessed as Somatic; 4.652e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs782692992 CA5708230	540	G>S		No	ClinGen ExAC gnomAD
rs781946508 CA378502134	541	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5708228 rs781946508	541	V>M		No	ClinGen ExAC TOPMed gnomAD
CA378502110 rs782797705	543	N>I		No	ClinGen ExAC TOPMed gnomAD
CA5708227 rs782797705	543	N>T		No	ClinGen ExAC TOPMed gnomAD
CA5708226 rs782115853	544	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782040834 CA5708225	544	R>H		No	ClinGen ExAC gnomAD
CA378502078 rs199752988	546	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5708223 rs199752988	546	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5708222 rs368881052	547	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378502064 rs1554877406	548	G>D		No	ClinGen TOPMed gnomAD
rs1554877406 CA378502062	548	G>V		No	ClinGen TOPMed gnomAD
TCGA novel	549	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1589616154 CA378502050	550	H>P		No	ClinGen Ensembl
rs782364297 CA5708221	551	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	553	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5708219 rs782577019	553	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1215718243 CA378502006	557	V>E		No	ClinGen TOPMed
CA378502007 rs1554877400	557	V>M		No	ClinGen gnomAD
CA378501987 rs1554877398	560	G>S		No	ClinGen gnomAD
CA5708215 rs782432616	562	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs187495430 CA5708216	562	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	563	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378501918 rs1423363716	566	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs146839286 CA5708212	567	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1425682415 CA378501862	570	K>E		No	ClinGen TOPMed
CA5708211 rs376301424	570	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs782808781 CA5708210	572	I>L		No	ClinGen ExAC TOPMed gnomAD
CA5708208 rs368656432	575	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs368656432 CA378501805	575	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA378501722 rs1289116016	582	E>*		No	ClinGen TOPMed
CA5708207 rs782702268	586	R>C		No	ClinGen ExAC gnomAD
rs375255169 CA5708206	586	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1314770890 CA378501637	589	T>A		No	ClinGen TOPMed
CA378501634 rs1383357606	589	T>I		No	ClinGen TOPMed gnomAD
CA378501633 rs1383357606	589	T>N		No	ClinGen TOPMed gnomAD
rs781953547 CA5708205	590	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs970462414 CA214648341	593	P>T		No	ClinGen Ensembl
rs782015262 CA5708202	597	V>F		No	ClinGen ExAC gnomAD
rs1554877369 CA378501564	601	N>H		No	ClinGen gnomAD
CA378501560 rs1589615978	601	N>S		No	ClinGen Ensembl
CA378501554 rs1198867706	602	I>F		No	ClinGen TOPMed gnomAD
rs781817434 CA5708196	605	S>F		No	ClinGen ExAC TOPMed gnomAD
rs781817434 CA5708197	605	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs781891908 CA5708194	606	E>A		No	ClinGen ExAC TOPMed gnomAD
CA5708195 rs782559165	606	E>K		No	ClinGen ExAC gnomAD
CA5708193 rs782601164	607	H>Y		No	ClinGen ExAC gnomAD
CA5708191 rs374935080	608	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5708189 rs183824836	609	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5708190 rs371370229	609	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5708186 rs900007570	610	V>F		No	ClinGen Ensembl
rs900007570 CA5708185	610	V>I		No	ClinGen Ensembl
rs1039834343 CA214648232	614	T>N		No	ClinGen Ensembl
rs782065629 CA5708183	615	D>G		No	ClinGen ExAC gnomAD
rs781912241 CA5708182	616	P>A		No	ClinGen ExAC TOPMed gnomAD
rs542604330 CA5708179	617	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5708178 rs782380678	618	V>M		No	ClinGen ExAC gnomAD
CA5708177 rs575047261	625	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs555217651 CA5708176	625	R>H	Variant assessed as Somatic; 9.279e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1554877343 CA378501368	631	T>I		No	ClinGen gnomAD
rs375673148 CA5708175	631	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554877339 CA378501364	632	S>N		No	ClinGen gnomAD
CA378501360 rs1311757569	632	S>R		No	ClinGen TOPMed gnomAD
rs782177458 CA5708174	633	G>S		No	ClinGen ExAC gnomAD
CA5708173 rs539747049	634	T>A		No	ClinGen ExAC TOPMed gnomAD
CA378501351 rs1554877334	634	T>N		No	ClinGen gnomAD
CA5708172 rs200334734	635	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5708170 rs572633301	636	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs782534607 CA5708169	637	P>T		No	ClinGen ExAC gnomAD
CA5708167 rs41284376	638	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs369274873 CA214648154	638	A>V		No	ClinGen ESP TOPMed gnomAD
CA5708165 rs781813261	639	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs375628817 CA5708166	639	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1554877320 CA378501308	642	I>T		No	ClinGen gnomAD
CA378501300 rs1554877318	643	Q>L		No	ClinGen gnomAD
rs538793387 CA5708164	645	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs782109095 CA5708163	646	M>I		No	ClinGen ExAC gnomAD
CA378501282 rs1554877317	646	M>T		No	ClinGen gnomAD
CA5708162 rs782042009	647	Q>L		No	ClinGen ExAC gnomAD
CA378501271 rs1431045893	648	F>I		No	ClinGen TOPMed
CA378501262 CA378501263 rs868970051	649	G>R		No	ClinGen TOPMed gnomAD
rs782074508 CA5708160	650	D>V		No	ClinGen ExAC gnomAD
CA5708159 rs569766700	651	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1589615753 CA378501250	651	T>P		No	ClinGen Ensembl
CA5708158 rs569766700	651	T>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	652	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378501234 rs1329207828	653	I>T		No	ClinGen TOPMed
rs1554877306 CA378501238	653	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs782004882 CA5708156 CA378501225	654	K>N		No	ClinGen ExAC gnomAD
CA378500917 rs199597734	658	I>M		No	ClinGen TOPMed
rs980625102 CA214648135	658	I>T		No	ClinGen Ensembl
rs369963832 CA378500905	660	I>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs782412500 CA378500907	660	I>L		No	ClinGen ExAC TOPMed gnomAD
rs369963832 CA5708154	660	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA5708155 rs782412500	660	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	661	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378500903 rs1554877294	661	A>T		No	ClinGen gnomAD
CA378500894 rs1554877291	662	T>N		No	ClinGen gnomAD
CA378500886 rs1217645688	663	S>L		No	ClinGen TOPMed gnomAD
CA5708153 rs782584268	665	S>C		No	ClinGen ExAC TOPMed gnomAD
CA378500859 rs1554877288	667	K>I		No	ClinGen gnomAD
rs187508178 CA5708152	670	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378500834 rs1246450362	671	D>A		No	ClinGen TOPMed
rs536208223 CA5708150	671	D>N	Variant assessed as Somatic; 9.781e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA5708149 rs375829666	672	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs782316102 CA214648115	676	Y>Y		No	ClinGen Ensembl

No associated diseases with O43301

1 regional properties for O43301

Type	Name	Position	InterPro Accession
domain	Heat shock 70kDa protein 12A, nucleotide-binding domain	57 - 523	IPR026685

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
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.

1 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

52 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P19120	HSPA8	Heat shock cognate 71 kDa protein	Bos taurus (Bovine)	SS
Q27975	HSPA1A	Heat shock 70 kDa protein 1A	Bos taurus (Bovine)	SS
Q2YDD0	HSPA14	Heat shock 70 kDa protein 14	Bos taurus (Bovine)	SS
P0CB32	HSPA1L	Heat shock 70 kDa protein 1-like	Bos taurus (Bovine)	SS
O73885	HSPA8	Heat shock cognate 71 kDa protein	Gallus gallus (Chicken)	SS
E1C2P3	HSPA14	Heat shock 70 kDa protein 14	Gallus gallus (Chicken)	SS
P08106		Heat shock 70 kDa protein	Gallus gallus (Chicken)	SS
P29843	Hsc70-1	Heat shock 70 kDa protein cognate 1	Drosophila melanogaster (Fruit fly)	SS
P02825	Hsp70Ab	Major heat shock 70 kDa protein Ab	Drosophila melanogaster (Fruit fly)	SS
P82910	Hsp70Aa	Major heat shock 70 kDa protein Aa	Drosophila melanogaster (Fruit fly)	SS
Q9VG58	Hsp70Bbb	Major heat shock 70 kDa protein Bbb	Drosophila melanogaster (Fruit fly)	SS
Q9BIR7	Hsp70Bc	Major heat shock 70 kDa protein Bc	Drosophila melanogaster (Fruit fly)	SS
Q8INI8	Hsp70Ba	Major heat shock 70 kDa protein Ba	Drosophila melanogaster (Fruit fly)	SS
Q9BIS2	Hsp70Bb	Major heat shock 70 kDa protein Bb	Drosophila melanogaster (Fruit fly)	SS
P11146	Hsc70-2	Heat shock 70 kDa protein cognate 2	Drosophila melanogaster (Fruit fly)	SS
P11147	Hsc70-4	Heat shock 70 kDa protein cognate 4	Drosophila melanogaster (Fruit fly)	SS
O97125	Hsp68	Heat shock protein 68	Drosophila melanogaster (Fruit fly)	SS
P17066	HSPA6	Heat shock 70 kDa protein 6	Homo sapiens (Human)	SS
P0DMV9	HSPA1B	Heat shock 70 kDa protein 1B	Homo sapiens (Human)	SS
P0DMV8	HSPA1A	Heat shock 70 kDa protein 1A	Homo sapiens (Human)	SS
P34931	HSPA1L	Heat shock 70 kDa protein 1-like	Homo sapiens (Human)	SS
Q0VDF9	HSPA14	Heat shock 70 kDa protein 14	Homo sapiens (Human)	SS
P54652	HSPA2	Heat shock-related 70 kDa protein 2	Homo sapiens (Human)	SS
P11142	HSPA8	Heat shock cognate 71 kDa protein	Homo sapiens (Human)	EV
Q96MM6	HSPA12B	Heat shock 70 kDa protein 12B	Homo sapiens (Human)	PR
P11143	HSP70	Heat shock 70 kDa protein	Zea mays (Maize)	SS
P16627	Hspa1l	Heat shock 70 kDa protein 1-like	Mus musculus (Mouse)	SS
P63017	Hspa8	Heat shock cognate 71 kDa protein	Mus musculus (Mouse)	SS
Q99M31	Hspa14	Heat shock 70 kDa protein 14	Mus musculus (Mouse)	SS
P17156	Hspa2	Heat shock-related 70 kDa protein 2	Mus musculus (Mouse)	SS
Q61696	Hspa1a	Heat shock 70 kDa protein 1A	Mus musculus (Mouse)	SS
P17879	Hspa1b	Heat shock 70 kDa protein 1B	Mus musculus (Mouse)	SS
Q8K0U4	Hspa12a	Heat shock 70 kDa protein 12A	Mus musculus (Mouse)	PR
Q9CZJ2	Hspa12b	Heat shock 70 kDa protein 12B	Mus musculus (Mouse)	PR
Q6S4N2	HSPA1B	Heat shock 70 kDa protein 1B	Sus scrofa (Pig)	SS
P14659	Hspa2	Heat shock-related 70 kDa protein 2	Rattus norvegicus (Rat)	SS
P0DMW1	Hspa1b	Heat shock 70 kDa protein 1B	Rattus norvegicus (Rat)	SS
P0DMW0	Hspa1a	Heat shock 70 kDa protein 1A	Rattus norvegicus (Rat)	SS
P63018	Hspa8	Heat shock cognate 71 kDa protein	Rattus norvegicus (Rat)	SS
P55063	Hspa1l	Heat shock 70 kDa protein 1-like	Rattus norvegicus (Rat)	SS
P09446	hsp-1	Heat shock protein hsp-1	Caenorhabditis elegans	SS
P26413	HSP70	Heat shock 70 kDa protein	Glycine max (Soybean) (Glycine hispida)	SS
Q9S9N1	HSP70-5	Heat shock 70 kDa protein 5	Arabidopsis thaliana (Mouse-ear cress)	SS
Q9C7X7	HSP70-18	Heat shock 70 kDa protein 18	Arabidopsis thaliana (Mouse-ear cress)	SS
O65719	HSP70-3	Heat shock 70 kDa protein 3	Arabidopsis thaliana (Mouse-ear cress)	SS
Q9LHA8	HSP70-4	Heat shock 70 kDa protein 4	Arabidopsis thaliana (Mouse-ear cress)	SS
P22954	HSP70-2	Heat shock 70 kDa protein 2	Arabidopsis thaliana (Mouse-ear cress)	SS
P22953	HSP70-1	Heat shock 70 kDa protein 1	Arabidopsis thaliana (Mouse-ear cress)	SS
P24629	HSC-I	Heat shock cognate 70 kDa protein 1	Solanum lycopersicum (Tomato) (Lycopersicon esculentum)	SS
P27322	HSC-2	Heat shock cognate 70 kDa protein 2	Solanum lycopersicum (Tomato) (Lycopersicon esculentum)	SS
Q5RGE6	hspa14	Heat shock 70 kDa protein 14	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q90473	hspa8	Heat shock cognate 71 kDa protein	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MADKEAGGSD	GPRETAPTSA	YSSPARSLGD	TGITPLSPSH	IVNDTDSNVS	EQQSFLVVVA
70	80	90	100	110	120
VDFGTTSSGY	AYSFTKEPEC	IHVMRRWEGG	DPGVSNQKTP	TTILLTPERK	FHSFGYAARD
130	140	150	160	170	180
FYHDLDPNEA	KQWLYLEKFK	MKLHTTGDLT	MDTDLTAANG	KKVKALEIFA	YALQYFKEQA
190	200	210	220	230	240
LKELSDQAGS	EFENSDVRWV	ITVPAIWKQP	AKQFMRQAAY	QAGLASPENS	EQLIIALEPE
250	260	270	280	290	300
AASIYCRKLR	LHQMIELSSK	AAVNGYSGSD	TVGAGFTQAK	EHIRRNRQSR	TFLVENVIGE
310	320	330	340	350	360
IWSELEEGDK	YVVVDSGGGT	VDLTVHQIRL	PEGHLKELYK	ATGGPYGSLG	VDYEFEKLLY
370	380	390	400	410	420
KIFGEDFIEQ	FKIKRPAAWV	DLMIAFESRK	RAAAPDRTNP	LNITLPFSFI	DYYKKFRGHS
430	440	450	460	470	480
VEHALRKSNV	DFVKWSSQGM	LRMSPDAMNA	LFKPTIDSII	EHLRDLFQKP	EVSTVKFLFL
490	500	510	520	530	540
VGGFAEAPLL	QQAVQAAFGD	QCRIIIPQDV	GLTILKGAVL	FGLDPAVIKV	RRSPLTYGVG
550	560	570	580	590	600
VLNRYVEGKH	PPEKLLVKDG	TRWCTDVFDK	FISADQSVAL	GELVKRSYTP	AKPSQLVIVI
610	620	630	640	650	660
NIYSSEHDNV	SFITDPGVKK	CGTLRLDLTG	TSGTAVPARR	EIQTLMQFGD	TEIKATAIDI
670
ATSKSVKVGI	DFLNY