AiPD: Autoinhibited Protein Database

Q96MM6

Gene name	HSPA12B (C20orf60)
Protein name	Heat shock 70 kDa protein 12B
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:116835
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-84 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-84 (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 Q96MM6

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96MM6-F1	Predicted				AlphaFoldDB

623 variants for Q96MM6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs749068921 CA9747580	4	V>I		No	ClinGen ExAC gnomAD
rs768659268 CA9747581	5	P>L		No	ClinGen ExAC gnomAD
CA9747583 rs760812368	6	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA311011140 rs1046335451	7	M>T		No	ClinGen TOPMed
CA9747584 rs770856608	8	G>D		No	ClinGen ExAC TOPMed gnomAD
CA9747585 rs776676878	9	L>R		No	ClinGen ExAC gnomAD
TCGA novel	13	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs967610282	14	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA9747587 rs765407716	14	I>V		No	ClinGen ExAC TOPMed gnomAD
CA9747588 rs753113770	15	G>S		No	ClinGen ExAC gnomAD
CA408132006 rs1287942010	17	S>N		No	ClinGen gnomAD
rs199871927 CA9747609 COSM443799	18	P>L	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs199871927 CA9747610	18	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs560653858 CA408132023	20	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs577327207 CA9747613	20	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs560653858 CA9747612	20	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1411702 CA311011866 rs867494918	21	S>F	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1393343390 CA408132033	22	P>S		No	ClinGen gnomAD
rs34414870 CA408132037 CA9747615 RCV000888263 VAR_049621	23	V>L		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9747616 rs34414870	23	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9747617 rs142216650	24	P>T		No	ClinGen ESP ExAC gnomAD
CA9747618 rs771948272	25	S>R		No	ClinGen ExAC gnomAD
rs777642105 CA9747619	27	P>S		No	ClinGen ExAC TOPMed gnomAD
CA311011883 rs745982790	28	G>R		No	ClinGen ExAC TOPMed gnomAD
CA9747620 rs745982790	28	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1354707538 CA408132073	29	S>Y		No	ClinGen TOPMed
rs556212057 CA9747622	30	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs556212057 CA9747621	30	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9747624 rs199761168	31	R>M		No	ClinGen ExAC TOPMed gnomAD
rs375250880 CA9747627	37	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	39	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200790194 CA9747629	39	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs760272735 CA9747630	40	P>H		No	ClinGen ExAC gnomAD
rs760272735 CA9747631	40	P>L		No	ClinGen ExAC gnomAD
CA311011909 rs375993303	43	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9747634 rs375993303	43	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1179293479 CA408132163	44	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9747635 rs369250253	44	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA9747636 rs758152505	46	S>P		No	ClinGen ExAC TOPMed gnomAD
rs758152505 CA408132172	46	S>T		No	ClinGen ExAC TOPMed gnomAD
CA408132202 rs1483939070	48	K>N		No	ClinGen TOPMed
CA408132209 rs1600315565	49	P>L		No	ClinGen Ensembl
CA9747647 rs761329591	50	E>K		No	ClinGen ExAC TOPMed gnomAD
CA9747648 rs370476993	51	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1256592960 CA408132217	51	V>I		No	ClinGen TOPMed
CA9747650 rs759033425	52	R>*		No	ClinGen ExAC gnomAD
rs1310609752 CA408132223 COSM297758	52	R>Q	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA9747652 rs764833212	53	A>T		No	ClinGen ExAC
CA408132230 rs1568473786	53	A>V		No	ClinGen Ensembl
CA9747653 rs752330762	54	P>L		No	ClinGen ExAC TOPMed gnomAD
rs748448416	55	Q>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	56	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1303380400 CA408132262	58	S>F		No	ClinGen TOPMed gnomAD
rs1181620770 CA408132259	58	S>P		No	ClinGen Ensembl
rs1412708382 CA408132290	63	V>M		No	ClinGen gnomAD
rs763938218 CA9747655	64	A>G		No	ClinGen ExAC TOPMed gnomAD
CA311012337 rs988161098	65	I>M		No	ClinGen TOPMed gnomAD
CA9747656 rs200406720	65	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1275253729 CA408132322	68	G>S		No	ClinGen gnomAD
rs542791253 CA9747659	70	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA408132346 rs1186327633	72	S>G		No	ClinGen gnomAD
CA9747662 rs748437176	72	S>N		No	ClinGen ExAC gnomAD
rs1477968811 CA408132355	73	G>D		No	ClinGen gnomAD
rs943554876 CA311012339	75	A>P		No	ClinGen Ensembl
rs1187882777 CA408132385	77	S>R		No	ClinGen TOPMed gnomAD
rs772416420 CA9747663	80	S>N		No	ClinGen ExAC gnomAD
CA408132418 rs1408897216	82	P>T		No	ClinGen gnomAD
rs1176074823 CA408132430	84	A>T		No	ClinGen gnomAD
CA9747665 rs747351886	87	M>I		No	ClinGen ExAC TOPMed
rs778319049 CA9747664	87	M>V		No	ClinGen ExAC
CA408132464 rs1432769783	88	M>I		No	ClinGen gnomAD
CA408132462 rs1377209562	88	M>T		No	ClinGen TOPMed gnomAD
rs1037888878 CA311012343	89	R>K		No	ClinGen Ensembl
rs1232117851 CA408132883	89	R>S		No	ClinGen gnomAD
TCGA novel	89	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA311012903 rs1011315079	90	K>T		No	ClinGen Ensembl
rs140210757 CA9747685	91	W>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs564348370 CA9747686	93	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1638056 rs775107642 CA9747688	94	G>R	bone [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA408132929 rs1600320159	95	D>A		No	ClinGen Ensembl
CA408132944 rs1468037102	97	G>A		No	ClinGen gnomAD
CA9747691 rs762430278	101	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs768320513 CA9747692	102	K>E		No	ClinGen ExAC gnomAD
CA408132996 rs1199519659	103	T>P		No	ClinGen gnomAD
CA9747693 rs374372742	104	P>A		No	ClinGen ExAC gnomAD
TCGA novel	104	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1600320241 CA408133017	105	T>P		No	ClinGen Ensembl
rs1156668470 CA408133035	106	C>Y		No	ClinGen gnomAD
rs1400399895 CA408133071	110	T>A		No	ClinGen gnomAD
rs1326857831 CA408133079	110	T>I		No	ClinGen gnomAD
CA408133069 rs1400399895	110	T>P		No	ClinGen gnomAD
rs1396912082 CA408133090	111	P>L		No	ClinGen TOPMed gnomAD
CA408133104 rs1438808907	112	E>D		No	ClinGen gnomAD
CA408133113 rs1468201909	113	G>D		No	ClinGen TOPMed
CA408133187 rs1336933798	119	G>S		No	ClinGen gnomAD
rs767401550 CA408133200	120	Y>D		No	ClinGen ExAC TOPMed gnomAD
rs767401550 CA9747695	120	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9747696 rs750179646	121	T>A		No	ClinGen ExAC gnomAD
CA9747697 rs146443971	122	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	122	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408133230 rs1209200964	123	R>C		No	ClinGen TOPMed
CA408133234 rs1317408435	123	R>H		No	ClinGen TOPMed
rs1317408435 CA408133237	123	R>L		No	ClinGen TOPMed
rs1351682144 CA408133242	124	D>H		No	ClinGen TOPMed
CA408133271 rs1274692758	126	Y>H		No	ClinGen gnomAD
CA9747701 rs758508985	127	H>Q		No	ClinGen ExAC gnomAD
rs953212658 CA311012936	128	D>V		No	ClinGen TOPMed gnomAD
rs1250597380 CA408133326	129	L>P		No	ClinGen gnomAD
rs1246915859 CA408133330	130	D>H		No	ClinGen TOPMed
rs1385296148 CA408133346	131	P>H		No	ClinGen TOPMed
CA408133342 rs1176951179	131	P>S		No	ClinGen gnomAD
CA408133357 rs1232188023	132	E>G		No	ClinGen gnomAD
CA9747702 rs751778150	132	E>K		No	ClinGen ExAC gnomAD
rs751778150 CA9747703	132	E>Q		No	ClinGen ExAC gnomAD
CA408133385 rs1301424474	134	A>T		No	ClinGen TOPMed
rs1447813955 CA408133391	134	A>V		No	ClinGen TOPMed
rs1420311399 CA408133399	135	R>P		No	ClinGen gnomAD
rs1420311399 CA408133401	135	R>Q		No	ClinGen gnomAD
rs746188452 CA9747705	135	R>W		No	ClinGen ExAC TOPMed gnomAD
rs756695132 CA408133413	136	D>E		No	ClinGen ExAC gnomAD
rs975768649 CA311012944	137	W>*		No	ClinGen Ensembl
rs1162808467 CA408133430	138	L>I		No	ClinGen gnomAD
CA311012947 rs1026771824	139	Y>H		No	ClinGen Ensembl
rs202117344 CA311012949	140	F>C		No	ClinGen 1000Genomes
rs200056447 CA9747709	142	K>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs985931241 CA311012953	143	F>L		No	ClinGen TOPMed
rs150464030 CA9747710	145	M>T		No	ClinGen ESP ExAC
CA9747711 rs747899568	147	I>F		No	ClinGen ExAC gnomAD
CA311012956 rs984825337	149	S>C		No	ClinGen Ensembl
rs771590822 CA9747712	149	S>R		No	ClinGen ExAC TOPMed gnomAD
rs773104406 CA408133558	150	A>D		No	ClinGen ExAC gnomAD
rs868827254 CA311012961	150	A>T		No	ClinGen Ensembl
rs773104406 CA9747713	150	A>V		No	ClinGen ExAC gnomAD
rs766367065	151	T>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs540970073 CA9747714	151	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA408133715 rs1393766286	153	L>I		No	ClinGen gnomAD
rs928634749 CA311013718	156	K>N		No	ClinGen Ensembl
TCGA novel	157	T>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1358580317 CA408133744	157	T>N		No	ClinGen TOPMed
rs766795522 CA9747741	158	Q>H		No	ClinGen ExAC gnomAD
CA408133752 rs1296389541	158	Q>L		No	ClinGen TOPMed
CA9747742 rs754169412	160	E>K		No	ClinGen ExAC gnomAD
CA408133759 rs754169412	160	E>Q		No	ClinGen ExAC gnomAD
rs1371061160 CA408133774	162	V>L		No	ClinGen gnomAD
CA9747743 rs138263651	167	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA408133809 rs1165292711	167	M>K		No	ClinGen TOPMed
CA311013719 rs751696616	169	A>T		No	ClinGen gnomAD
CA311013720 rs759652437	170	L>P		No	ClinGen Ensembl
rs1194375274 CA408133834	171	E>V		No	ClinGen TOPMed
rs1600321606 CA408133841	172	V>G		No	ClinGen Ensembl
CA311013721 rs991502883	172	V>M		No	ClinGen Ensembl
CA9747745 rs149650862	173	F>I		No	ClinGen ESP ExAC gnomAD
CA408133851 rs1203582007	174	A>S		No	ClinGen TOPMed gnomAD
rs1468989621 CA408133859	175	H>L		No	ClinGen gnomAD
CA9747747 rs777491646	178	R>S		No	ClinGen ExAC gnomAD
rs746701423 CA9747748	181	R>G		No	ClinGen ExAC gnomAD
rs1451235859 CA408133915	183	H>Q		No	ClinGen TOPMed gnomAD
TCGA novel	183	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1207635422 CA408133925	185	L>F		No	ClinGen TOPMed
rs1205254920 CA408133952	187	E>G		No	ClinGen gnomAD
CA408133963 rs1479909099	189	R>K		No	ClinGen gnomAD
rs982425901 CA311013747	191	Q>H		No	ClinGen TOPMed
CA408134026 rs1183950593	194	S>L		No	ClinGen TOPMed
CA9747769 rs745689179	196	P>A		No	ClinGen ExAC gnomAD
CA408134049 rs1412573716	196	P>L		No	ClinGen gnomAD
rs1428599998	198	K>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
COSM1681512 rs769647913 CA9747770	202	R>C	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs780056202 CA9747771	202	R>H		No	ClinGen ExAC
CA408134132 rs1473692793	203	W>S		No	ClinGen TOPMed
rs574276921 CA9747772	206	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1313308156 CA408134181	207	V>A		No	ClinGen gnomAD
TCGA novel	208	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408134253 rs1407853462	213	Q>R		No	ClinGen gnomAD
CA9747775 rs202158595	214	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs376256245 CA9747776	215	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1297793539 CA408134287	216	K>R		No	ClinGen gnomAD
CA408134310 rs1169226608	218	F>L		No	ClinGen gnomAD
CA408134319 rs1205036291	218	F>L		No	ClinGen gnomAD
rs201399630 CA9747777	219	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA408134327 rs1281552190	219	M>V		No	ClinGen gnomAD
rs759905379 CA9747778	220	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1208377353 CA408134340	220	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs61734308 CA9747779	221	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9747781 rs560548296	222	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1434483929 CA408134404	226	A>S		No	ClinGen gnomAD
CA408134411 rs764541315	227	G>A		No	ClinGen ExAC gnomAD
rs764541315 CA9747803	227	G>E		No	ClinGen ExAC gnomAD
rs1457198896 CA408134421	229	V>A		No	ClinGen TOPMed
rs774932955 CA408134418	229	V>L		No	ClinGen ExAC gnomAD
CA9747804 rs774932955	229	V>M		No	ClinGen ExAC gnomAD
CA9747805 rs761424141	231	R>*		No	ClinGen ExAC gnomAD
CA9747806 rs767196367	231	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1166473172 CA408134439	232	E>D		No	ClinGen TOPMed
rs749921064 CA9747807	235	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs139945617 CA9747808	236	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA9747810 rs376594636	236	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs139945617 CA9747809	236	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs141879532 CA9747813	240	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1233336113 CA408134504	243	P>S		No	ClinGen gnomAD
rs370512373 CA9747815	244	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs769936390 CA9747817	246	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1165801888 CA408134531	247	S>L		No	ClinGen TOPMed gnomAD
CA408134541 rs1600326599	249	Y>S		No	ClinGen Ensembl
CA9747819 rs150573779	251	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA408134555 rs150573779	251	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs769008328 CA9747820 COSM1026686	251	R>H	lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1444828579 CA408134568	253	L>Q		No	ClinGen TOPMed gnomAD
rs543465028 COSM1254464 CA311014021	254	R>C	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA gnomAD
rs139568860 CA9747821	254	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA408134589 rs1353671210	257	Q>E		No	ClinGen gnomAD
rs951514211 CA311014022	257	Q>H		No	ClinGen Ensembl
CA408134604 rs1460315112	259	L>P		No	ClinGen TOPMed
CA408134623 rs1202846518	262	S>T		No	ClinGen TOPMed gnomAD
CA408134634 rs760192224	264	R>P		No	ClinGen ExAC TOPMed gnomAD
CA9747825 rs760192224	264	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs141938190 CA9747824	264	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA408134639 rs1370381624	265	A>V		No	ClinGen gnomAD
CA9747826 rs765950925	266	P>S		No	ClinGen ExAC gnomAD
rs753469088 CA9747828	267	G>A		No	ClinGen ExAC TOPMed gnomAD
rs753469088 CA9747829	267	G>D		No	ClinGen ExAC TOPMed gnomAD
CA9747830 rs765080535	268	G>S		No	ClinGen ExAC gnomAD
CA408134673 rs1454595052	269	G>E		No	ClinGen TOPMed
CA9747831 rs373904414	270	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
VAR_059362 CA9747832 rs6139194	270	R>H		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA9747833 rs777642122	272	G>D		No	ClinGen ExAC gnomAD
CA408134719 rs1243506986	273	E>G		No	ClinGen gnomAD
CA9747834 rs371289095	274	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA9747835 COSM4136880 rs146744731	274	R>H	ovary [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs139111180 CA9747836	275	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749584031 COSM1165328 CA9747837	275	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1272836204 CA408134754	277	I>L		No	ClinGen TOPMed
CA311014025 rs933089922	278	D>G		No	ClinGen TOPMed gnomAD
CA311014024 rs779468466	278	D>H		No	ClinGen ExAC TOPMed gnomAD
rs779468466 CA9747839	278	D>N		No	ClinGen ExAC TOPMed gnomAD
CA9747840 rs748472193	279	S>F		No	ClinGen ExAC gnomAD
CA408134781 rs1187008201	279	S>P		No	ClinGen gnomAD
CA9747841 rs772736874	282	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9747842 rs773788255	282	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1390053817 CA408134839	283	Q>L		No	ClinGen gnomAD
rs1051368634 CA311014026	284	A>T		No	ClinGen Ensembl
rs1440026314 CA408134930	286	E>K		No	ClinGen gnomAD
CA408134946 rs1331414319	287	Q>*		No	ClinGen gnomAD
CA311014094 rs201339460	289	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs1206967956 CA408134988	290	R>S		No	ClinGen TOPMed gnomAD
rs200238699 CA311014095	291	S>P		No	ClinGen Ensembl
rs1267552512 CA408135005	292	R>H		No	ClinGen TOPMed gnomAD
CA9747867 rs775060551	293	H>Y		No	ClinGen ExAC gnomAD
CA408135029 rs888210744	294	S>G		No	ClinGen TOPMed gnomAD
rs888210744 CA311014096	294	S>R		No	ClinGen TOPMed gnomAD
TCGA novel	295	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9747869 rs763936271	295	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA311014097 rs780667182	296	T>K		No	ClinGen Ensembl
CA9747871 rs761852096	297	F>C		No	ClinGen ExAC gnomAD
rs146416465 CA9747873	299	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA408135127 rs1458947809	302	G>D		No	ClinGen gnomAD
CA9747876 rs765569211	303	V>I		No	ClinGen ExAC TOPMed gnomAD
rs765569211 COSM1533344 CA408135131	303	V>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1391772942 CA408135138	304	G>E		No	ClinGen gnomAD
CA408135152 rs1289968188	306	L>V		No	ClinGen gnomAD
CA9747877 rs753022367	310	M>L		No	ClinGen ExAC gnomAD
CA9747878 rs758685794	311	Q>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	312	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	312	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408135246 rs1322438920	313	G>*		No	ClinGen gnomAD
CA408135837 rs1435849579	315	R>C		No	ClinGen gnomAD
rs1331899459 CA408135840	315	R>H		No	ClinGen TOPMed
rs1228204231 CA408135861	317	V>M		No	ClinGen gnomAD
CA9747900 rs757500813	319	A>V		No	ClinGen ExAC gnomAD
CA408135949 rs1207612212	323	G>V		No	ClinGen gnomAD
rs1236495629 CA408135953	324	G>S		No	ClinGen gnomAD
rs7363039 CA311014144	326	V>G		No	ClinGen Ensembl
rs781731110 CA9747901	326	V>M		No	ClinGen ExAC TOPMed gnomAD
rs542952973 CA9747902	329	T>M		No	ClinGen 1000Genomes ExAC gnomAD
CA408136033 rs1448790654	330	V>E		No	ClinGen gnomAD
CA9747903 rs756609771	330	V>L		No	ClinGen ExAC gnomAD
rs554545359 CA9747904	331	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1412490276 CA408136077	334	E>K		No	ClinGen gnomAD
CA311014145 rs1009143402	336	P>S		No	ClinGen TOPMed
rs1174255963 CA408136144	338	G>D		No	ClinGen gnomAD
CA408136175 rs1356241529	342	E>K		No	ClinGen Ensembl
rs151101921 CA9747908	345	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	345	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1442205668 CA408136241	346	A>V		No	ClinGen TOPMed
CA408136253 rs1249254159	347	S>F		No	ClinGen TOPMed
CA9747940 rs532250171	349	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs754400404 CA9747941	349	G>V		No	ClinGen ExAC TOPMed gnomAD
CA9747942 rs755504407	350	P>S		No	ClinGen ExAC TOPMed gnomAD
rs778322208 CA9747943	353	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9747945 rs758006104	354	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1437461199 CA408136384	354	V>M		No	ClinGen gnomAD
CA408136396 rs1471825728	355	G>D		No	ClinGen gnomAD
rs909534809 CA311014162	356	V>A		No	ClinGen TOPMed gnomAD
rs777524890 CA9747946	356	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1432028424 CA408136414	357	D>N		No	ClinGen gnomAD
CA408136440 rs1167082994	359	A>P		No	ClinGen gnomAD
rs1167082994 CA408136438	359	A>T		No	ClinGen gnomAD
rs1395406542 CA408136444	359	A>V		No	ClinGen gnomAD
CA408136458 rs1335677590	360	F>L		No	ClinGen gnomAD
rs1220411611 CA408136470	361	E>D		No	ClinGen TOPMed
rs6139196 CA311014163	361	E>K		No	ClinGen ExAC TOPMed gnomAD
rs6139196 CA9747948	361	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs781125257 CA9747949	363	L>P		No	ClinGen ExAC gnomAD
CA408136514 rs1344209983	365	C>Y		No	ClinGen gnomAD
CA311014164 rs538311690	366	R>G		No	ClinGen Ensembl
rs867453305 CA311014165	366	R>H		No	ClinGen TOPMed gnomAD
TCGA novel	367	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769196158 CA311014166	367	I>T		No	ClinGen Ensembl
CA408136537 rs1188191267	367	I>V		No	ClinGen gnomAD
CA9747950 rs745863915	368	F>L		No	ClinGen ExAC gnomAD
CA408136562 rs769739525	368	F>L		No	ClinGen ExAC gnomAD
CA9747952 rs774344821	369	G>C		No	ClinGen ExAC gnomAD
rs1440779599 CA408136580	370	E>*		No	ClinGen gnomAD
CA408136577 rs1440779599	370	E>K		No	ClinGen gnomAD
CA311014167 rs939651041	371	D>N		No	ClinGen TOPMed
CA408136623 rs1183005982	373	I>F		No	ClinGen gnomAD
rs1178212215 CA408136656	376	F>L		No	ClinGen Ensembl
rs367586620 CA9747954	378	R>G		No	ClinGen ESP ExAC gnomAD
TCGA novel	380	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773362896 CA9747955	381	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	381	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408136731 rs1174000512	382	A>T		No	ClinGen gnomAD
rs1474289041 CA408136739	382	A>V		No	ClinGen gnomAD
TCGA novel	383	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760872422 CA9747956	383	A>P		No	ClinGen ExAC gnomAD
rs1468886415 CA408136786	386	D>H		No	ClinGen gnomAD
TCGA novel	388	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408136820 rs1432779133	388	T>N		No	ClinGen gnomAD
rs1404587939 CA408136847	390	A>T		No	ClinGen TOPMed
CA408136868 rs1351271354	391	F>L		No	ClinGen TOPMed
COSM1615578 CA9747962 rs757855596	396	R>H	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1467371180 CA408136946	399	G>S		No	ClinGen TOPMed gnomAD
rs144840007 CA9747965	399	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA408136969 rs1207415930	401	H>D		No	ClinGen gnomAD
CA408136970 rs1207415930	401	H>Y		No	ClinGen gnomAD
rs1261594567 CA408136983	402	R>C		No	ClinGen gnomAD
CA9747968 rs756031970	403	A>E		No	ClinGen ExAC gnomAD
rs745657847 CA9747967	403	A>T		No	ClinGen ExAC gnomAD
CA9747969 rs372363417	404	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA311014172 rs139310351	404	G>V		No	ClinGen ESP TOPMed gnomAD
CA9747971 rs748187474	405	A>E		No	ClinGen ExAC TOPMed gnomAD
rs748187474 CA9747970	405	A>V		No	ClinGen ExAC TOPMed gnomAD
CA408137051 rs1390229313	408	I>V		No	ClinGen gnomAD
rs1568479752 CA408137082	410	L>R		No	ClinGen Ensembl
rs1288218178 CA408137087	411	P>S		No	ClinGen gnomAD
rs771119929 CA9747974	415	I>L		No	ClinGen ExAC gnomAD
CA408137139 rs1256330033	415	I>N		No	ClinGen TOPMed
CA408137134 rs771119929	415	I>V		No	ClinGen ExAC gnomAD
CA311014174 rs1005081550	417	F>L		No	ClinGen TOPMed
rs1212185056 CA408137165	417	F>Y		No	ClinGen TOPMed
rs530230071 CA9747975	418	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1289168059 CA408137193	419	R>H		No	ClinGen TOPMed gnomAD
rs759904018 CA9747976	420	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs141564153 CA9747977	420	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA408137234 rs1489090547	422	R>Q		No	ClinGen TOPMed gnomAD
CA408137232 rs1260713695	422	R>W		No	ClinGen gnomAD
rs971077838 CA311014175	423	G>C		No	ClinGen TOPMed gnomAD
CA408137243 rs1373093945	423	G>D		No	ClinGen TOPMed
rs979776341 CA311014176	426	V>M		No	ClinGen Ensembl
CA9747980 rs763765071	429	A>T		No	ClinGen ExAC gnomAD
CA9747981 rs751082743	430	L>R		No	ClinGen ExAC TOPMed gnomAD
CA9747982 rs757023154	432	R>G		No	ClinGen ExAC TOPMed gnomAD
rs370598013 CA9747983	432	R>K		No	ClinGen ExAC gnomAD
CA311014178 rs957276054	433	S>C		No	ClinGen TOPMed gnomAD
CA311014177 rs957276054	433	S>R		No	ClinGen TOPMed gnomAD
rs755874590 CA9747985	434	S>N		No	ClinGen ExAC gnomAD
CA408137388 rs753603589	434	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1203408248 CA408137389	435	V>M		No	ClinGen TOPMed gnomAD
rs1343484226 CA408137396	436	N>D		No	ClinGen TOPMed
rs1242521374 CA408137415	438	V>G		No	ClinGen gnomAD
CA408137412 rs1179549786	438	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs138277711 CA9748007	439	K>N		No	ClinGen ESP ExAC gnomAD
rs147043157 CA9748005	439	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147043157 CA9748006	439	K>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA408137430 rs1161987603	440	W>C		No	ClinGen TOPMed
TCGA novel	442	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149601399 CA9748009	444	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs769876717 CA9748011	445	M>I		No	ClinGen ExAC gnomAD
rs552902059 CA9748010	445	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780517260 CA9748012	446	L>P		No	ClinGen ExAC gnomAD
TCGA novel	447	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs574449193 CA9748013 COSM1026687	447	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA311014253 rs866406690	449	S>F		No	ClinGen Ensembl
rs769322226 CA9748014	450	C>G		No	ClinGen ExAC gnomAD
rs769322226 CA408137487	450	C>R		No	ClinGen ExAC gnomAD
rs1436437924 CA408137493	451	E>K		No	ClinGen gnomAD
rs892905517 CA311014254	452	A>S		No	ClinGen TOPMed
rs774935207 CA9748015	453	M>I		No	ClinGen ExAC
CA408137527 rs772562699 CA9748018	455	E>D		No	ClinGen ExAC TOPMed gnomAD
CA9748017 rs771677044	455	E>K		No	ClinGen ExAC gnomAD
rs144262723 CA311014255	456	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA gnomAD
rs760421209 CA9748019	458	Q>E		No	ClinGen ExAC gnomAD
CA311014256 rs1041391513	460	T>I		No	ClinGen Ensembl
rs759259645 CA9748022 COSM1751448	461	V>I	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1008141105 CA311014257	462	S>N		No	ClinGen Ensembl
rs765172268 CA9748023	463	G>R		No	ClinGen ExAC TOPMed gnomAD
CA408137588 rs1325463795	465	I>S		No	ClinGen gnomAD
rs1210547273 CA408137607	468	I>V		No	ClinGen gnomAD
rs759173793 CA9748040	473	A>G		No	ClinGen ExAC
CA9748042 rs765086384	474	R>W		No	ClinGen ExAC gnomAD
CA9748043 rs762996855	475	P>L		No	ClinGen ExAC gnomAD
CA9748045 rs750552109	476	E>A		No	ClinGen ExAC gnomAD
CA9748046 rs756084398	479	G>D		No	ClinGen ExAC TOPMed gnomAD
CA408138228 rs1411192459	479	G>S		No	ClinGen gnomAD
CA311014332 rs1006705142	481	K>N		No	ClinGen Ensembl
rs1291890095 CA408138262	481	K>T		No	ClinGen gnomAD
CA311014333 rs754173316	484	F>L		No	ClinGen ExAC TOPMed gnomAD
CA311014334 rs866036994	487	G>C		No	ClinGen Ensembl
CA408138364 rs1483502522	488	G>D		No	ClinGen gnomAD
CA408138356 rs1268524265	488	G>S		No	ClinGen gnomAD
CA9748049 rs755218453	489	F>L		No	ClinGen ExAC gnomAD
rs1036424936 CA311014335	490	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA311014336 rs867861528	491	E>*		No	ClinGen gnomAD
CA9748052 rs60858447 CA311014337	491	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA408138406 rs867861528	491	E>K		No	ClinGen gnomAD
rs1164345942 COSM1411728 CA408138456	493	A>V	large_intestine Variant assessed as Somatic; 0.0001116 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs746542721 CA9748054	496	Q>P		No	ClinGen ExAC gnomAD
rs770403153 CA408138520	497	H>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	498	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA311014340 rs972056637	499	V>G		No	ClinGen TOPMed gnomAD
rs745560903 CA9748057	499	V>M		No	ClinGen ExAC gnomAD
CA408138573 rs1405696195	501	A>E		No	ClinGen TOPMed
CA408138565 rs1380476524	501	A>T		No	ClinGen TOPMed gnomAD
CA9748058 rs769416606	502	A>G		No	ClinGen ExAC gnomAD
CA408138616 rs1197808685	504	G>S		No	ClinGen gnomAD
rs1188314913 CA408138655	505	A>G		No	ClinGen gnomAD
CA9748061 rs13433190	505	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1245582810 CA408138661	506	R>C		No	ClinGen gnomAD
rs1443285463 CA408138693	507	G>R		No	ClinGen gnomAD
rs1443285463 CA408138683	507	G>S		No	ClinGen gnomAD
CA311014343 rs958940206	510	V>I		No	ClinGen Ensembl
rs1244450162 CA408138811 COSM1026688	512	V>A	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
TCGA novel	512	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408138828 rs1395252581	513	P>L		No	ClinGen gnomAD
rs1165799877 CA408138824	513	P>S		No	ClinGen TOPMed gnomAD
rs1013190273 CA311014344	514	H>Y		No	ClinGen gnomAD
CA408138858 rs1451799857	516	V>E		No	ClinGen gnomAD
CA311014345 rs563413970	516	V>M		No	ClinGen TOPMed gnomAD
CA408138865 rs1246624961	517	G>C		No	ClinGen TOPMed
CA311014346 rs968883712	518	L>F		No	ClinGen gnomAD
CA311014347 rs1054363870	519	T>I		No	ClinGen TOPMed
rs978013611 CA311014348	521	L>F		No	ClinGen Ensembl
CA408138974 rs1268698473	524	A>E		No	ClinGen gnomAD
rs1224893978 CA408138973	524	A>S		No	ClinGen gnomAD
rs1268698473 CA408138978	524	A>V		No	ClinGen gnomAD
CA311014350 rs924326728	527	F>L		No	ClinGen TOPMed gnomAD
CA408139033 rs1265054748	528	G>R		No	ClinGen gnomAD
CA408139066 rs1309953497	529	Q>*		No	ClinGen gnomAD
rs578203657 CA311014352	529	Q>R		No	ClinGen gnomAD
rs1209097965 CA408139135	533	V>M		No	ClinGen Ensembl
rs1383279790 CA408139169	534	V>A		No	ClinGen TOPMed
CA408139157 rs1191470623	534	V>M		No	ClinGen gnomAD
rs753944111 CA9748065	535	R>Q		No	ClinGen ExAC gnomAD
rs1318647675 CA408139177	535	R>W		No	ClinGen gnomAD
CA311014353 rs965109877	536	V>L		No	ClinGen TOPMed
CA408139216 rs1468769060	537	R>C		No	ClinGen TOPMed gnomAD
rs772214713 CA311014354	537	R>H		No	ClinGen TOPMed gnomAD
rs1468769060 CA408139214	537	R>S		No	ClinGen TOPMed gnomAD
CA311014356 rs976380971	538	R>H		No	ClinGen Ensembl
rs997255401 CA311014355	538	R>S		No	ClinGen TOPMed
rs1387029696 CA408139265	539	S>*		No	ClinGen TOPMed gnomAD
rs1387029696 CA408139270	539	S>L		No	ClinGen TOPMed gnomAD
rs765513574 CA311014358	540	P>L		No	ClinGen ExAC TOPMed gnomAD
rs765513574 CA9748069	540	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs765513574 CA311014357	540	P>R		No	ClinGen ExAC TOPMed gnomAD
CA311014359 rs888888794	541	L>F		No	ClinGen TOPMed
CA311014360 rs932544422	542	T>P		No	ClinGen Ensembl
rs1239579120 CA408139348	543	Y>C		No	ClinGen Ensembl
CA408139373 rs1234263884	545	V>M		No	ClinGen TOPMed gnomAD
rs909803712 CA311014362	546	G>S		No	ClinGen Ensembl
rs1007354531 CA311014363	546	G>V		No	ClinGen TOPMed
rs939831152 CA311014364	547	V>E		No	ClinGen TOPMed
CA408139441 rs868681502	548	L>F		No	ClinGen gnomAD
rs868681502 CA311014365	548	L>I		No	ClinGen gnomAD
CA9748071 rs758631794	549	N>D		No	ClinGen ExAC TOPMed gnomAD
CA408139450 rs758631794	549	N>H		No	ClinGen ExAC TOPMed gnomAD
rs1269389645 CA408139482	550	R>H		No	ClinGen gnomAD
CA408139488 rs1269389645	550	R>L		No	ClinGen gnomAD
CA9748073 rs752072238	553	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1261445042 CA408139567	554	G>R		No	ClinGen TOPMed gnomAD
CA311014367 rs1036873433	556	H>Q		No	ClinGen gnomAD
CA408139634 rs1479857171	557	P>L		No	ClinGen gnomAD
CA9748074 rs757731423	557	P>S		No	ClinGen ExAC gnomAD
rs1365501854 CA408139642	558	P>L		No	ClinGen gnomAD
rs1157874922 CA408139644	559	E>K		No	ClinGen gnomAD
CA408139647 rs1157874922	559	E>Q		No	ClinGen gnomAD
rs1391231017 CA408139741	563	V>A		No	ClinGen gnomAD
CA408139759 rs1179625806	564	R>L		No	ClinGen gnomAD
rs1474131328 CA408139812	566	G>C		No	ClinGen TOPMed
CA311014369 rs1057135036	567	R>H		No	ClinGen TOPMed gnomAD
rs865816081 CA311014371	568	R>H		No	ClinGen TOPMed
rs865816081 CA311014370	568	R>L		No	ClinGen TOPMed
rs745334284 CA9748076	569	W>C		No	ClinGen ExAC gnomAD
CA408139886 rs1490789485	570	C>R		No	ClinGen TOPMed
rs564673534 CA9748077	573	V>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1357510552 CA408140020	575	E>K		No	ClinGen TOPMed gnomAD
rs1357510552 CA408140024	575	E>Q		No	ClinGen TOPMed gnomAD
CA9748078 rs779510421	576	R>C		No	ClinGen ExAC TOPMed gnomAD
CA408140048 rs779510421	576	R>S		No	ClinGen ExAC TOPMed gnomAD
CA408140087 rs1182325206	578	V>M		No	ClinGen gnomAD
CA408140105 rs1252075579	579	A>D		No	ClinGen TOPMed gnomAD
CA408140103 rs1252075579	579	A>V		No	ClinGen TOPMed gnomAD
rs1013344468 CA311014373	581	E>D		No	ClinGen gnomAD
rs1181009973 CA408140125	581	E>K		No	ClinGen gnomAD
CA408140179 rs1426383910	584	V>M		No	ClinGen gnomAD
CA408140196 rs1277838254	585	A>S		No	ClinGen TOPMed
rs1161443014 CA408140204	585	A>V		No	ClinGen gnomAD
rs1224303917 CA408140209	586	L>V		No	ClinGen TOPMed
rs768395936 CA9748080	587	G>C		No	ClinGen ExAC gnomAD
CA311014376 rs982095818	587	G>D		No	ClinGen TOPMed
rs774195077 CA9748081	588	E>D		No	ClinGen ExAC gnomAD
rs1424237009 CA408140235	588	E>K		No	ClinGen gnomAD
rs1355685226 CA408140261	589	E>D		No	ClinGen TOPMed
rs761703039 CA9748082	590	V>M		No	ClinGen ExAC gnomAD
CA9748083 rs573461524	592	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA311014377 rs868278862	593	S>R		No	ClinGen Ensembl
CA9748084 rs776877123	595	C>W		No	ClinGen ExAC gnomAD
rs1384177464 CA408140350	596	P>L		No	ClinGen gnomAD
rs1158927889 CA408140346	596	P>S		No	ClinGen gnomAD
CA408140366 rs1359104758	598	R>P		No	ClinGen gnomAD
CA408140369 rs1204811002	599	P>S		No	ClinGen gnomAD
rs1461461510 CA408140381	600	G>D		No	ClinGen TOPMed gnomAD
rs1479381187 CA408140393	601	Q>R		No	ClinGen gnomAD
rs1194728424 CA408140400	602	R>W		No	ClinGen gnomAD
CA408140407 rs867327346	603	R>C		No	ClinGen TOPMed
CA9748089 rs540882059	603	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA408140411 rs540882059	603	R>L		No	ClinGen 1000Genomes ExAC gnomAD
CA311014379 rs867327346	603	R>S		No	ClinGen TOPMed
CA408140417 rs1384404990	604	V>I		No	ClinGen TOPMed gnomAD
CA408140416 rs1384404990	604	V>L		No	ClinGen TOPMed gnomAD
CA9748092 rs781635622	606	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1600334124 CA408140448	607	N>S		No	ClinGen Ensembl
CA9748094 rs755566816	609	Y>F		No	ClinGen ExAC gnomAD
TCGA novel	609	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1407529583 CA408140494	611	C>*		No	ClinGen gnomAD
CA9748096 rs779605953	611	C>F		No	ClinGen ExAC gnomAD
rs1234580694 CA408140486	611	C>R		No	ClinGen TOPMed
rs748963957 CA408140501	612	A>G		No	ClinGen ExAC TOPMed gnomAD
CA408140497 rs1455071679	612	A>T		No	ClinGen gnomAD
CA9748097 rs748963957	612	A>V		No	ClinGen ExAC TOPMed gnomAD
CA311014380 rs867728263	613	A>T		No	ClinGen Ensembl
rs778592087 CA9748099	614	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs757055440 CA311014382	615	D>E		No	ClinGen Ensembl
rs772135594 CA9748101	615	D>N		No	ClinGen ExAC TOPMed gnomAD
CA9748102 rs773225658	615	D>V		No	ClinGen ExAC gnomAD
rs760676949 CA9748104	616	A>E		No	ClinGen ExAC TOPMed gnomAD
CA9748105 rs760676949	616	A>V		No	ClinGen ExAC TOPMed gnomAD
CA408140544 rs1600334292	617	R>C		No	ClinGen Ensembl
rs1242383958 CA408140557	618	F>L		No	ClinGen gnomAD
rs775607118 CA9748106	619	I>T		No	ClinGen ExAC TOPMed gnomAD
CA408140563 rs1281594807	619	I>V		No	ClinGen TOPMed
CA9748107 rs763134714	621	D>G		No	ClinGen ExAC
CA408140584 rs1421966391	621	D>Y		No	ClinGen gnomAD
rs1430106670 CA408140597	622	P>L		No	ClinGen gnomAD
rs774609739 CA9748109	622	P>S		No	ClinGen ExAC gnomAD
CA408140590 rs774609739	622	P>T		No	ClinGen ExAC gnomAD
CA9748111 rs768028565	623	G>S		No	ClinGen ExAC gnomAD
rs1290972698 CA408140618	625	R>H		No	ClinGen TOPMed gnomAD
rs750990283 CA9748112	625	R>S		No	ClinGen ExAC TOPMed gnomAD
CA311014385 rs1031836975	629	A>T		No	ClinGen TOPMed gnomAD
rs1221137420 CA408140668	630	L>F		No	ClinGen gnomAD
rs1221137420 CA408140670	630	L>I		No	ClinGen gnomAD
rs753336393 CA9748115	631	S>I		No	ClinGen ExAC gnomAD
CA9748117 rs372212521	633	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA311014387 rs1027933841	634	L>F		No	ClinGen Ensembl
CA311014388 rs1043062485	636	P>S		No	ClinGen TOPMed
rs1269795843 CA408140733	637	A>T		No	ClinGen gnomAD
rs1429255634 CA408140753	638	D>E		No	ClinGen TOPMed gnomAD
rs200283012 CA9748121	638	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1184349601 CA408140755	639	C>S		No	ClinGen TOPMed
TCGA novel	639	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408140775 rs1161851667	640	G>A		No	ClinGen gnomAD
CA408140768 rs1401776528	640	G>S		No	ClinGen gnomAD
CA408140780 rs1343834974	641	Q>*		No	ClinGen gnomAD
CA408140813 rs1306141890	643	T>I		No	ClinGen gnomAD
rs1600334614 CA408140810	643	T>P		No	ClinGen Ensembl
CA408140822 rs932951524	644	A>D		No	ClinGen TOPMed gnomAD
CA311014389 rs932951524	644	A>G		No	ClinGen TOPMed gnomAD
rs1346999540 CA408140817	644	A>T		No	ClinGen TOPMed gnomAD
CA311014391 rs770877828	645	G>C		No	ClinGen ExAC gnomAD
CA408140824 rs770877828	645	G>R		No	ClinGen ExAC gnomAD
CA9748123 rs770877828	645	G>S		No	ClinGen ExAC gnomAD
CA408140865 rs1316130972	649	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA408140878 rs1222932001	650	R>C		No	ClinGen gnomAD
rs1292868242 CA408140883	650	R>H		No	ClinGen gnomAD
COSM723736 rs376453290 CA9748126	652	E>D	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA9748128 rs762013051	654	R>C		No	ClinGen ExAC gnomAD
rs888834622 CA311014393	654	R>H		No	ClinGen TOPMed
rs927803951 CA311014394	655	A>T		No	ClinGen TOPMed
rs1568481947 CA408140992	655	A>V		No	ClinGen Ensembl
rs368204979 CA9748129	656	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1271558886 CA408141055	658	Q>R		No	ClinGen gnomAD
rs1406352499 CA408141098	660	G>D		No	ClinGen gnomAD
rs773538378 CA9748131	661	D>N		No	ClinGen ExAC TOPMed gnomAD
rs766866143 CA9748133	665	K>N		No	ClinGen ExAC gnomAD
CA311014395 rs938733280	667	T>I		No	ClinGen TOPMed
TCGA novel	667	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408141281 rs1418851001	668	A>T		No	ClinGen TOPMed
rs1302093724 CA408141303	668	A>V		No	ClinGen gnomAD
CA408141312 rs1443666103	669	V>D		No	ClinGen gnomAD
rs753288533 CA9748134	669	V>I		No	ClinGen ExAC TOPMed gnomAD
CA408141350 rs1372523920	670	D>E		No	ClinGen gnomAD
CA9748135 rs754449932	670	D>N		No	ClinGen ExAC gnomAD
rs764639320 CA408141363	671	V>F		No	ClinGen ExAC TOPMed gnomAD
CA9748136 rs764639320	671	V>I		No	ClinGen ExAC TOPMed gnomAD
CA9748137 rs752464362	672	S>R		No	ClinGen ExAC TOPMed gnomAD
CA311014396 rs948712651	674	N>S		No	ClinGen TOPMed gnomAD
CA408141491 rs565661733	675	R>G		No	ClinGen TOPMed gnomAD
CA9748139 rs777758123	675	R>H		No	ClinGen ExAC gnomAD
CA311014397 rs565661733	675	R>S		No	ClinGen TOPMed gnomAD
rs1231712175 CA408141541	676	S>P		No	ClinGen TOPMed gnomAD
rs1231712175 CA408141537	676	S>T		No	ClinGen TOPMed gnomAD
rs1600335055 CA408141573	677	V>G		No	ClinGen Ensembl
rs757174866 CA9748141	677	V>M		No	ClinGen ExAC TOPMed gnomAD
CA408141581 rs1184698150	678	R>C		No	ClinGen gnomAD
CA408141579 rs1184698150	678	R>G		No	ClinGen gnomAD
rs999103703 CA311014398	678	R>H		No	ClinGen Ensembl
CA408141607 rs1417691556	679	A>S		No	ClinGen Ensembl
rs998323072 CA311014401	680	S>F		No	ClinGen Ensembl
rs141241030 CA311014400	680	S>T		No	ClinGen ESP gnomAD
CA311014402 rs1028006050	681	I>V		No	ClinGen Ensembl
CA408141694 rs375139971	682	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs375139971 CA9748142	682	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA408141755 rs1177156628	684	L>F		No	ClinGen TOPMed gnomAD

No associated diseases with Q96MM6

No regional properties for Q96MM6

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q96MM6

Functions

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

No GO annotations of cellular component

Name	Definition
No GO annotations for cellular component

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
O43301	HSPA12A	Heat shock 70 kDa protein 12A	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
MLAVPEMGLQ	GLYIGSSPER	SPVPSPPGSP	RTQESCGIAP	LTPSQSPKPE	VRAPQQASFS
70	80	90	100	110	120
VVVAIDFGTT	SSGYAFSFAS	DPEAIHMMRK	WEGGDPGVAH	QKTPTCLLLT	PEGAFHSFGY
130	140	150	160	170	180
TARDYYHDLD	PEEARDWLYF	EKFKMKIHSA	TDLTLKTQLE	AVNGKTMPAL	EVFAHALRFF
190	200	210	220	230	240
REHALQELRE	QSPSLPEKDT	VRWVLTVPAI	WKQPAKQFMR	EAAYLAGLVS	RENAEQLLIA
250	260	270	280	290	300
LEPEAASVYC	RKLRLHQLLD	LSGRAPGGGR	LGERRSIDSS	FRQAREQLRR	SRHSRTFLVE
310	320	330	340	350	360
SGVGELWAEM	QAGDRYVVAD	CGGGTVDLTV	HQLEQPHGTL	KELYKASGGP	YGAVGVDLAF
370	380	390	400	410	420
EQLLCRIFGE	DFIATFKRQR	PAAWVDLTIA	FEARKRTAGP	HRAGALNISL	PFSFIDFYRK
430	440	450	460	470	480
QRGHNVETAL	RRSSVNFVKW	SSQGMLRMSC	EAMNELFQPT	VSGIIQHIEA	LLARPEVQGV
490	500	510	520	530	540
KLLFLVGGFA	ESAVLQHAVQ	AALGARGLRV	VVPHDVGLTI	LKGAVLFGQA	PGVVRVRRSP
550	560	570	580	590	600
LTYGVGVLNR	FVPGRHPPEK	LLVRDGRRWC	TDVFERFVAA	EQSVALGEEV	RRSYCPARPG
610	620	630	640	650	660
QRRVLINLYC	CAAEDARFIT	DPGVRKCGAL	SLELEPADCG	QDTAGAPPGR	REIRAAMQFG
670	680
DTEIKVTAVD	VSTNRSVRAS	IDFLSN