AiPD: Autoinhibited Protein Database

Q9BZQ6

Gene name	EDEM3 (C1orf22)
Protein name	ER degradation-enhancing alpha-mannosidase-like protein 3
Names	Alpha-1,2-mannosidase EDEM3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:80267
EC number	3.2.1.113: Glycosidases, ie enzymes hydrolyzing O- and S-glycosyl compounds
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

769-922 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

769-922 (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 Q9BZQ6

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9BZQ6-F1	Predicted				AlphaFoldDB

687 variants for Q9BZQ6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs777353823 CA1287765 VAR_086113	61	D>G	CDG2V; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
VAR_086114	314	R>del	CDG2V; unknown pathological significance [UniProt]	Yes	UniProt
VAR_086115	456	D>N	CDG2V; unknown pathological significance [UniProt]	Yes	UniProt
VAR_086116 CA33385182 rs902837579	469	Y>missing	CDG2V; unknown pathological significance [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP
VAR_086116 rs902837579	469	Y>del	CDG2V; unknown pathological significance [UniProt]	Yes	UniProt dbSNP
rs185774628 CA343868852	2	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1450897709 CA343868845	2	S>N		No	ClinGen gnomAD
rs185774628 CA1287833	2	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1470459699 CA343868785	4	A>T		No	ClinGen TOPMed
CA1287831 rs562390785	4	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA343868720 rs1296740190	6	G>S		No	ClinGen gnomAD
rs752781403 CA343868691	7	R>L		No	ClinGen ExAC TOPMed gnomAD
rs752781403 CA1287825	7	R>P		No	ClinGen ExAC TOPMed gnomAD
rs752781403 CA1287826	7	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs778081951 CA1287827	7	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1231713225 CA343868629	10	G>E		No	ClinGen TOPMed gnomAD
CA343868624 rs1231713225	10	G>V		No	ClinGen TOPMed gnomAD
rs755484875 CA1287823	11	S>F		No	ClinGen ExAC gnomAD
rs1331024254 CA343868616	11	S>T		No	ClinGen TOPMed gnomAD
CA343868594 rs1262253084	12	P>L		No	ClinGen TOPMed
CA343868601 rs1358908585	12	P>T		No	ClinGen gnomAD
CA1287821 rs766765884	13	V>A		No	ClinGen ExAC gnomAD
CA343868566 rs776255897	14	P>L		No	ClinGen gnomAD
CA33386335 rs776255897	14	P>R		No	ClinGen gnomAD
TCGA novel	14	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1410261594 CA343868562	15	Q>*		No	ClinGen TOPMed gnomAD
CA343868545 rs1366873802	15	Q>L		No	ClinGen gnomAD
CA343868521 rs760305934	16	R>L		No	ClinGen ExAC TOPMed gnomAD
rs760305934 CA1287820	16	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs200912232 CA1287819	17	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1287818 rs767091932	18	R>P		No	ClinGen ExAC TOPMed gnomAD
CA1287816 rs773802459	19	W>R		No	ClinGen ExAC gnomAD
CA343868391 rs1480870041	20	R>G		No	ClinGen TOPMed
CA1287814 rs193034365 CA1287815	20	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1287813 rs775206379	21	L>R		No	ClinGen ExAC gnomAD
CA33386325 rs1028624037	21	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA33386321 rs370757732	22	V>A		No	ClinGen Ensembl
rs1168934491 CA343868327	22	V>L		No	ClinGen TOPMed
TCGA novel	22	V>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201050441 CA33386320	24	A>G		No	ClinGen gnomAD
rs769644093 CA1287812	25	T>M		No	ClinGen ExAC gnomAD
CA1287810 rs778169826	26	A>G		No	ClinGen ExAC gnomAD
CA1287811 rs745590804	26	A>T		No	ClinGen ExAC gnomAD
rs778169826 CA343868198	26	A>V		No	ClinGen ExAC gnomAD
CA33386313 rs963130879	29	C>Y		No	ClinGen Ensembl
rs866960319 CA33386308	33	A>T		No	ClinGen Ensembl
rs1326242728 CA343867981	34	T>P		No	ClinGen TOPMed
CA1287806 rs755507094	35	S>Y		No	ClinGen ExAC gnomAD
rs1422658014 CA343867936	36	V>G		No	ClinGen gnomAD
rs754360198 CA343867946	36	V>L		No	ClinGen ExAC gnomAD
CA1287805 rs754360198	36	V>M		No	ClinGen ExAC gnomAD
TCGA novel	37	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1287803 rs756478612	39	A>V		No	ClinGen ExAC gnomAD
CA1287801 rs767181519	40	G>V		No	ClinGen ExAC gnomAD
rs537587048 CA1287800	41	A>V		No	ClinGen ExAC TOPMed gnomAD
CA1287799 rs773892037	42	E>K		No	ClinGen ExAC TOPMed gnomAD
CA343867585 rs1571440002	44	M>I		No	ClinGen Ensembl
rs374881926 CA1287798	44	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1287797 rs762312178	47	E>K		No	ClinGen ExAC TOPMed gnomAD
CA1287795 rs769575996	50	Q>*		No	ClinGen ExAC gnomAD
CA33386284 rs905453166	51	K>R		No	ClinGen TOPMed gnomAD
CA33386282 rs1045018600	52	L>F		No	ClinGen Ensembl
CA1287766 rs774641568	55	Q>E		No	ClinGen ExAC gnomAD
rs975006592 CA343865428	59	M>R		No	ClinGen TOPMed gnomAD
rs975006592 CA33385457	59	M>T		No	ClinGen TOPMed gnomAD
CA343865390 rs1179707092	62	H>D		No	ClinGen gnomAD
rs908662838 CA343865382	62	H>Q		No	ClinGen TOPMed gnomAD
CA33385455 rs991933571	63	A>P		No	ClinGen Ensembl
CA343865363 rs1331454699	64	Y>C		No	ClinGen TOPMed
CA1287764 rs749410139	67	Y>C		No	ClinGen ExAC gnomAD
rs1160654516 CA343865296	68	M>V		No	ClinGen gnomAD
CA1287742 rs771377588	69	E>V		No	ClinGen ExAC gnomAD
CA1287741 rs747448781	70	H>R		No	ClinGen ExAC TOPMed gnomAD
CA343865143 rs1297311583	71	A>D		No	ClinGen gnomAD
rs1393878926 CA343865129	73	P>R		No	ClinGen gnomAD
rs1415292609 CA343865131	73	P>S		No	ClinGen TOPMed gnomAD
rs777966032 CA1287740	74	A>D		No	ClinGen ExAC gnomAD
TCGA novel	80	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343865066 rs1470626856	82	C>Y		No	ClinGen gnomAD
rs1408921925 CA343865057	83	R>S		No	ClinGen TOPMed gnomAD
rs1166557608 CA343865049	85	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA1287739 rs758133289	85	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1287737 rs778654315	87	R>K		No	ClinGen ExAC gnomAD
TCGA novel	87	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201518061 CA33403181	88	G>S		No	ClinGen gnomAD
CA343865014 rs1454212108	90	E>D		No	ClinGen TOPMed
CA343865020 rs1242683763	90	E>Q		No	ClinGen gnomAD
rs754543278 CA1287736	92	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1462638238 CA343864998	93	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs199771567 CA1287735	93	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA33403153 rs146347520	94	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146347520 CA1287733	94	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA343864982 rs767212054	96	V>F		No	ClinGen ExAC TOPMed gnomAD
CA1287731 rs767212054	96	V>I		No	ClinGen ExAC TOPMed gnomAD
CA343864971 rs1358277218	97	D>E		No	ClinGen gnomAD
CA1287729 rs775692658	99	A>D		No	ClinGen ExAC TOPMed gnomAD
rs775692658 CA1287730	99	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1558067102 CA343864948	101	G>E		No	ClinGen Ensembl
CA1287707 rs751305996	106	T>A		No	ClinGen ExAC gnomAD
CA1287706 rs765489933	112	D>V		No	ClinGen ExAC gnomAD
rs759721775 CA1287705	113	T>A		No	ClinGen ExAC
rs1257308126 CA343864856	114	L>V		No	ClinGen TOPMed gnomAD
CA343864834 rs1323443357	116	V>I		No	ClinGen TOPMed gnomAD
rs767960652 CA1287681	118	N>D		No	ClinGen ExAC gnomAD
CA33400798 rs534407860	119	K>R		No	ClinGen Ensembl
CA343864788 CA1287679 rs774924847	122	E>D		No	ClinGen ExAC TOPMed gnomAD
CA1287680 rs762382335	122	E>Q		No	ClinGen ExAC gnomAD
CA1287677 rs763352377	126	A>S		No	ClinGen ExAC gnomAD
CA1287675 rs201274616	132	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1287674 rs769437943	132	R>T		No	ClinGen ExAC gnomAD
CA1287672 rs201235401	133	D>N		No	ClinGen ExAC TOPMed gnomAD
CA1287673 rs201235401	133	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1418464476 CA343864712	134	V>I		No	ClinGen TOPMed gnomAD
rs1168145724 CA343864688	137	D>G		No	ClinGen gnomAD
CA343864690 rs1434515361	137	D>N		No	ClinGen TOPMed
rs148083344 CA343864678	138	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA343864671 rs777627529 CA1287669	139	D>E		No	ClinGen ExAC TOPMed gnomAD
CA1287670 rs746933616	139	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs377593638 CA1287668	140	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs756340605 CA1287666	142	V>I		No	ClinGen ExAC TOPMed gnomAD
rs756340605 CA1287665	142	V>L		No	ClinGen ExAC TOPMed gnomAD
CA343864631 rs1215448424	146	E>G		No	ClinGen gnomAD
CA343864626 rs1344568328	147	T>A		No	ClinGen gnomAD
rs1313075388 CA343864622	147	T>R		No	ClinGen gnomAD
rs982867597 CA33400718	149	I>V		No	ClinGen Ensembl
rs377303985 CA33399541	157	G>S		No	ClinGen gnomAD
CA343864535 rs1424829428	159	H>R		No	ClinGen gnomAD
CA343864519 rs1455436603	162	A>T		No	ClinGen TOPMed
rs1191639229 CA343864493	166	K>E		No	ClinGen TOPMed
CA343864453 rs1172694034	171	Y>C		No	ClinGen TOPMed
CA1287644 rs751651222	171	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs764746719 CA1287643	172	M>V		No	ClinGen ExAC gnomAD
rs201115464 CA1287642	173	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA33399505 rs1032334286	175	Y>H		No	ClinGen Ensembl
rs753068002 CA1287641	176	N>H		No	ClinGen ExAC TOPMed gnomAD
CA1287640 rs765619816	176	N>S		No	ClinGen ExAC TOPMed gnomAD
CA1287639 rs200598664	177	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1442108188 CA343864399	178	E>D		No	ClinGen TOPMed
CA343864389 rs1267136670	180	L>F		No	ClinGen gnomAD
CA33399486 rs1005580271	182	M>T		No	ClinGen TOPMed
rs760197678 CA1287637	184	K>N		No	ClinGen ExAC TOPMed gnomAD
CA1287634 rs772041952	189	K>T		No	ClinGen ExAC gnomAD
CA343864318 rs1197561508	190	L>F		No	ClinGen TOPMed
rs748116675 CA1287633	191	L>V		No	ClinGen ExAC gnomAD
TCGA novel	191	L>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1287632 rs41264582	192	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1287629 rs781597649	194	F>L		No	ClinGen ExAC gnomAD
rs757529410 CA1287628	195	N>H		No	ClinGen ExAC gnomAD
rs138221490 CA1287627	195	N>S		No	ClinGen ESP ExAC gnomAD
CA1287626 rs777995167	196	T>A		No	ClinGen ExAC gnomAD
CA343864283 rs777995167	196	T>P		No	ClinGen ExAC gnomAD
CA1287625 rs758886936	197	T>P		No	ClinGen ExAC TOPMed gnomAD
CA1287624 rs753258407	198	S>G		No	ClinGen ExAC gnomAD
CA1287623 rs779217680	201	P>H		No	ClinGen ExAC gnomAD
rs1160565058 CA343864247	202	Y>F		No	ClinGen gnomAD
CA343864240 rs1558063436	203	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	206	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1287604 rs373653001	208	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA1287603 rs371675210	210	G>A		No	ClinGen ESP ExAC gnomAD
rs142115161 CA1287601	211	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs142115161 CA1287602	211	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA33395359 rs142115161	211	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs750090347 CA1287600	213	K>I		No	ClinGen ExAC gnomAD
CA33395333 rs143845581	216	A>T		No	ClinGen ESP
CA343864138 rs200009814	217	R>G		No	ClinGen ExAC TOPMed gnomAD
CA1287598 rs202039206	217	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200009814 CA1287599	217	R>W		No	ClinGen ExAC TOPMed gnomAD
rs146164488 CA1287596	219	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs972979004 CA33395296	224	T>A		No	ClinGen Ensembl
CA33395278 rs1022543725	230	G>C		No	ClinGen Ensembl
rs917945729 CA33395265	234	L>F		No	ClinGen gnomAD
CA343864031 rs917945729	234	L>V		No	ClinGen gnomAD
rs759333973 CA1287591	237	A>S		No	ClinGen ExAC
rs1384619210 CA343863992	240	S>G		No	ClinGen gnomAD
CA33395258 rs991305425	241	R>Q		No	ClinGen Ensembl
CA343863975 rs1444057705	242	F>L		No	ClinGen gnomAD
CA343863964 rs1222304821	244	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA343863962 rs1222304821	244	G>V		No	ClinGen TOPMed gnomAD
CA1287590 rs773596173	245	A>T		No	ClinGen ExAC gnomAD
CA33395248 rs959522417	246	T>A		No	ClinGen Ensembl
CA1287589 rs772134316	246	T>I		No	ClinGen ExAC TOPMed gnomAD
rs150812544 CA343863952	247	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1287586 rs769274417	247	I>T		No	ClinGen ExAC gnomAD
rs150812544 CA1287587	247	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1558059100 CA343863934	249	E>G		No	ClinGen Ensembl
CA343863907 rs1213490351	251	Y>C		No	ClinGen TOPMed
rs781404788 CA1287552	252	A>S		No	ClinGen ExAC gnomAD
CA1287551 rs756989904	253	R>K		No	ClinGen ExAC
TCGA novel	254	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA33394102 rs746654363	255	A>P		No	ClinGen ExAC TOPMed gnomAD
CA1287550 rs746654363	255	A>T		No	ClinGen ExAC TOPMed gnomAD
CA343863878 rs1197000981	256	L>F		No	ClinGen gnomAD
CA343863869 rs1423746292	257	D>A		No	ClinGen TOPMed
CA343863873 rs1479928689	257	D>H		No	ClinGen TOPMed gnomAD
CA343863874 rs1479928689	257	D>N		No	ClinGen TOPMed gnomAD
CA343863871 rs1423746292	257	D>V		No	ClinGen TOPMed
CA343863872 rs1479928689	257	D>Y		No	ClinGen TOPMed gnomAD
rs1186152843 CA343863866	258	F>I		No	ClinGen TOPMed
CA343863860 rs1571386344	258	F>L		No	ClinGen Ensembl
CA343863856 rs1366262071	259	L>F		No	ClinGen TOPMed
TCGA novel	260	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343863838 rs1158915164	261	E>V		No	ClinGen TOPMed
rs1351402299 CA343863835	262	K>E		No	ClinGen Ensembl
CA1287548 rs758009767	265	R>*		No	ClinGen ExAC gnomAD
rs540617947 CA1287547	265	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA343863808 rs1208721591	266	S>G		No	ClinGen gnomAD
CA343863806 rs1330406712	266	S>N		No	ClinGen TOPMed gnomAD
rs1330406712 CA343863805	266	S>T		No	ClinGen TOPMed gnomAD
CA343863798 rs1395446140	267	S>N		No	ClinGen TOPMed
rs765312761 CA343863789	268	N>I		No	ClinGen ExAC TOPMed
rs765312761 CA1287546	268	N>S		No	ClinGen ExAC TOPMed
rs369225337 CA1287545	271	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs528899420 CA1287541	272	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1287542 rs528899420	272	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1275691321 CA343863755	274	I>T		No	ClinGen gnomAD
CA33394085 rs956872473	274	I>V		No	ClinGen TOPMed gnomAD
rs1571386170 CA343863738	276	I>M		No	ClinGen Ensembl
CA343863727 rs1438807375	278	T>S		No	ClinGen TOPMed gnomAD
rs1483200715 CA343863720	279	G>E		No	ClinGen TOPMed
rs752166852 CA1287540	280	D>Y		No	ClinGen ExAC gnomAD
CA343863697 rs1390703707	282	V>A		No	ClinGen gnomAD
CA343863700 rs1435798313	282	V>I		No	ClinGen gnomAD
CA1287538 rs775527038	283	R>*		No	ClinGen ExAC gnomAD
CA1287537 rs745895034	283	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs760990159 CA1287510	285	D>E		No	ClinGen ExAC TOPMed gnomAD
CA33392949 rs942092624	285	D>G		No	ClinGen TOPMed
rs1436390075 CA343863657	287	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs773678013 CA1287509	302	A>G		No	ClinGen ExAC
rs910677262 CA33392937	302	A>T		No	ClinGen TOPMed
rs1274218919 CA343863547	303	Y>C	Variant assessed as Somatic; 4.641e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1415686282 CA343863540	304	V>A		No	ClinGen TOPMed gnomAD
CA33392930 rs202044883	304	V>I		No	ClinGen Ensembl
CA1287508 rs771914694	308	D>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	308	D>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747792603 CA343863504	310	S>G		No	ClinGen ExAC TOPMed gnomAD
CA1287507 rs747792603	310	S>R		No	ClinGen ExAC TOPMed gnomAD
rs778654108 CA1287506	313	E>A		No	ClinGen ExAC gnomAD
rs768290411 CA1287505	314	R>S		No	ClinGen ExAC
CA343863456 rs1379772001	316	N>K		No	ClinGen gnomAD
CA1287504 rs139183949	317	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA343863426 rs1160330851	319	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs772581318 CA1287488	320	D>G		No	ClinGen ExAC gnomAD
CA1287487 rs762204619	322	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	323	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1042547327 CA33391943	323	M>V		No	ClinGen Ensembl
rs774182309 CA1287486	324	R>K		No	ClinGen ExAC gnomAD
rs774182309 CA343863393	324	R>T		No	ClinGen ExAC gnomAD
rs768309622 CA1287485	327	S>I		No	ClinGen ExAC gnomAD
rs1213640644 CA343863354	329	P>L		No	ClinGen gnomAD
CA343863357 rs1248466647	329	P>T		No	ClinGen gnomAD
rs1315267291 CA343863327	334	D>G		No	ClinGen gnomAD
CA33391932 rs1010382377	334	D>H		No	ClinGen Ensembl
rs1315267291 CA343863326	334	D>V		No	ClinGen gnomAD
rs901363850 CA33391930	335	V>A		No	ClinGen Ensembl
CA343863314 rs1268582846	336	H>R		No	ClinGen gnomAD
rs1229969887 CA343863305	337	I>S		No	ClinGen gnomAD
rs528434285 CA1287482	339	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1386922814 CA343863285	340	P>Q		No	ClinGen gnomAD
CA343863278 rs1286597528	341	M>T		No	ClinGen gnomAD
CA343863281 rs1353561751	341	M>V		No	ClinGen TOPMed
CA1287480 rs745829552	345	R>Q		No	ClinGen ExAC gnomAD
CA343863253 rs1433584115	345	R>W		No	ClinGen gnomAD
CA33391919 rs1022810111	347	W>G		No	ClinGen TOPMed
rs1321760670 CA343863241	347	W>S		No	ClinGen gnomAD
CA343863214 rs1558054481	350	A>V		No	ClinGen Ensembl
rs781039239 CA1287479	357	G>A		No	ClinGen ExAC gnomAD
rs1376227495 CA343863156	359	Q>R		No	ClinGen gnomAD
rs776571043 CA1287459	364	D>G		No	ClinGen ExAC
TCGA novel	364	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1303078833 CA343863112	364	D>H		No	ClinGen gnomAD
rs932107097 CA33391753	367	P>L		No	ClinGen TOPMed gnomAD
rs374764361 CA1287458	367	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	368	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746842119 CA1287457	369	I>V		No	ClinGen ExAC TOPMed gnomAD
CA343863051 rs1339209096	373	E>G		No	ClinGen gnomAD
rs143613854 CA1287456	373	E>K		No	ClinGen ESP ExAC gnomAD
CA343863027 rs1319264122	376	Y>C		No	ClinGen gnomAD
rs749536749 CA343863022	377	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs749536749 CA1287454	377	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA33391733 rs944940252	377	Q>H		No	ClinGen TOPMed gnomAD
rs1302883222 CA343863017	378	V>M		No	ClinGen TOPMed
rs1558054181 CA343863008	379	I>S		No	ClinGen Ensembl
CA1287452 rs756252783	383	N>I		No	ClinGen ExAC TOPMed gnomAD
rs756252783 CA1287451	383	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1331388444 CA343862978	383	N>Y		No	ClinGen TOPMed
CA343862957 rs1429342423	386	P>R		No	ClinGen gnomAD
rs1205730867 CA343862953	387	E>*		No	ClinGen TOPMed
CA1287450 rs750485298	387	E>D		No	ClinGen ExAC gnomAD
rs770122236 CA1287433	388	A>G		No	ClinGen ExAC gnomAD
CA343862911 rs1196250399	391	T>I		No	ClinGen gnomAD
CA1287430 rs757899203	392	D>E		No	ClinGen ExAC TOPMed gnomAD
CA343862910 rs1351376367	392	D>N		No	ClinGen TOPMed
rs1211017175 CA343862893	394	R>K		No	ClinGen gnomAD
rs778099486 CA1287428	396	H>R		No	ClinGen ExAC gnomAD
rs752122207 CA1287429	396	H>Y		No	ClinGen ExAC gnomAD
CA1287427 rs563273025	398	A>T		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	398	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343862860 rs1314318308	399	Q>*		No	ClinGen TOPMed
CA343862846 rs1231250606	401	P>A		No	ClinGen gnomAD
CA1287426 rs752981854	401	P>L		No	ClinGen ExAC gnomAD
rs1558053119 RCV000736118 CA343862840	402	L>V		No	ClinGen ClinVar Ensembl dbSNP
rs759180112 CA1287424	407	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1324272567 CA343862803	407	A>S		No	ClinGen gnomAD
CA1287425 rs759180112	407	A>V		No	ClinGen ExAC TOPMed gnomAD
rs910479366 CA33391024	409	S>N		No	ClinGen Ensembl
CA343862776 rs1280271479	411	Y>C		No	ClinGen TOPMed
CA343862779 rs1457593912	411	Y>H		No	ClinGen gnomAD
rs1485047369 CA343862763	413	L>V		No	ClinGen TOPMed
CA1287421 rs760109808	414	Y>*		No	ClinGen ExAC gnomAD
CA33391007 rs987167474	414	Y>H		No	ClinGen TOPMed gnomAD
rs758797024 CA1287408	417	T>A		No	ClinGen ExAC gnomAD
CA343862718 rs1486058714	418	G>E		No	ClinGen TOPMed
rs753172672 CA343862709	419	D>E		No	ClinGen ExAC gnomAD
rs1208426032 CA343862704	420	P>L		No	ClinGen gnomAD
CA1287405 rs755276877	421	Y>C		No	ClinGen ExAC gnomAD
rs753492325 CA1287404	422	Y>C		No	ClinGen ExAC gnomAD
CA1287401 rs150098169	423	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA1287402 rs372548911	423	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs767530443 CA1287400	424	E>K		No	ClinGen ExAC gnomAD
CA343862655 rs1282317487	428	T>A		No	ClinGen gnomAD
rs761656260 CA1287399	429	L>V		No	ClinGen ExAC gnomAD
CA1287398 rs774264192	430	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1335781356 CA343862627	432	N>S		No	ClinGen gnomAD
CA1287396 rs368296552	437	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1287397 rs368296552	437	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA33390743 rs750043400	442	G>R		No	ClinGen TOPMed gnomAD
CA343862552 rs1414923878	443	F>S		No	ClinGen TOPMed
rs866692495 CA33390741	444	A>V		No	ClinGen Ensembl
rs1422316324 CA343862536	446	M>V		No	ClinGen gnomAD
rs771252507 CA1287394	450	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1287393 rs747148669	450	R>H		No	ClinGen ExAC TOPMed gnomAD
rs916992018 CA33390728	451	T>I		No	ClinGen TOPMed gnomAD
rs916992018 CA33390729	451	T>S		No	ClinGen TOPMed gnomAD
rs1447384593 CA343862492	453	S>R		No	ClinGen gnomAD
TCGA novel	454	H>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs146461491 CA1287392	454	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1190420237 CA343862480	454	H>R		No	ClinGen gnomAD
CA343862436 rs1203477213	458	M>I		No	ClinGen gnomAD
TCGA novel	461	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343862365 rs1395890700	468	K>Q		No	ClinGen gnomAD
CA343862349 rs1402931602	470	L>V		No	ClinGen TOPMed
CA33385180 rs574503857	471	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA343862329 rs1362485571	473	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA1287362 rs755858237	474	F>L		No	ClinGen ExAC gnomAD
rs1423210821 CA343862312	476	D>N		No	ClinGen gnomAD
rs1571366646 CA916356621	477	K>NM*		No	ClinGen Ensembl
CA1287358 rs755176860	478	E>*		No	ClinGen ExAC
CA343862284 rs1323637572	479	D>E		No	ClinGen TOPMed
CA1287359 rs144035602	479	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed
rs144035602 CA1287357	479	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed
TCGA novel	480	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1287356 rs756751600	480	I>S		No	ClinGen ExAC gnomAD
CA343862282 rs1296418291	480	I>V		No	ClinGen gnomAD
CA343862267 rs1246951408	482	F>V		No	ClinGen TOPMed
rs1464279851 CA343862258	483	D>G		No	ClinGen gnomAD
CA343862261 rs751088993	483	D>H		No	ClinGen ExAC TOPMed gnomAD
CA1287355 rs751088993	483	D>N		No	ClinGen ExAC TOPMed gnomAD
rs751088993 CA343862260	483	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs758402689 CA1287353	484	I>M		No	ClinGen ExAC gnomAD
rs1243060105 CA343862248	485	E>K		No	ClinGen TOPMed
CA1287352 rs752593272	488	I>V		No	ClinGen ExAC gnomAD
rs866206530 CA33385165	489	F>S		No	ClinGen Ensembl
CA343862202 rs1219324334	491	T>K		No	ClinGen gnomAD
CA343862148 rs1185336665	499	W>*		No	ClinGen TOPMed
rs764955648 CA1287351	499	W>R		No	ClinGen ExAC gnomAD
rs1433522415 CA343862136	501	S>C		No	ClinGen gnomAD
rs1289793324 CA343862132	502	T>A		No	ClinGen gnomAD
rs1455574166 CA343862126	503	T>A		No	ClinGen gnomAD
CA1287347 rs767728452	504	N>D		No	ClinGen ExAC TOPMed gnomAD
CA1287348 rs767728452	504	N>H		No	ClinGen ExAC TOPMed gnomAD
CA1287346 rs761931370	506	S>I		No	ClinGen ExAC TOPMed gnomAD
CA1287345 rs144835234	507	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144666645 CA1287344	507	I>T		No	ClinGen ESP ExAC TOPMed
rs1186673090 CA343862089	509	K>E		No	ClinGen gnomAD
CA343862085 rs1571366243	509	K>R		No	ClinGen Ensembl
CA33385154 rs1041978444	510	K>E		No	ClinGen Ensembl
rs763438017 CA1287343	510	K>T		No	ClinGen ExAC gnomAD
CA1287342 rs200489181	511	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA343862064 rs1369656889	512	T>R		No	ClinGen gnomAD
CA1287325 rs764176154	513	T>N		No	ClinGen ExAC gnomAD
CA1287326 rs764176154	513	T>S		No	ClinGen ExAC gnomAD
rs201214078 CA1287323	514	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1287321 rs372810452	518	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs777046964 CA1287320	518	E>V		No	ClinGen ExAC TOPMed gnomAD
CA343862007 rs1571364800	520	D>H		No	ClinGen Ensembl
rs746669081 CA1287318	520	D>V		No	ClinGen ExAC gnomAD
CA1287316 rs777500298	523	N>D		No	ClinGen ExAC gnomAD
rs534471113 CA1287315	523	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1169641764 CA343861968	525	D>G		No	ClinGen gnomAD
CA1287313 rs548484304	525	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753644360 CA1287311	526	W>G		No	ClinGen ExAC gnomAD
CA1287310 rs779886459	527	T>A		No	ClinGen ExAC gnomAD
CA1287309 rs569209861	527	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1409341701 CA343861949	528	C>Y		No	ClinGen gnomAD
rs764264125 CA1287307	529	P>L		No	ClinGen ExAC gnomAD
rs148284518 CA1287306	530	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1198145678 CA343861934	530	N>K		No	ClinGen gnomAD
CA33385004 rs1020376693	532	Q>E		No	ClinGen Ensembl
CA343861920 rs1558049072	532	Q>H		No	ClinGen Ensembl
CA33385002 rs762396741	533	I>N		No	ClinGen Ensembl
TCGA novel	534	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343861889 rs1265272265	537	N>S		No	ClinGen gnomAD
rs766853402 CA1287302	540	L>F		No	ClinGen ExAC TOPMed gnomAD
rs765728282 CA1287304	540	L>M		No	ClinGen ExAC TOPMed gnomAD
rs760071452 CA1287303	540	L>S		No	ClinGen ExAC TOPMed gnomAD
rs137866437 CA1287300	541	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1465161211 CA343861852	543	Q>*		No	ClinGen TOPMed
CA343861843 rs1336485908	544	S>N		No	ClinGen gnomAD
CA1287299 rs773019419	546	R>C		No	ClinGen ExAC TOPMed gnomAD
CA33384993 rs958690854	546	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1389961737 CA343861826	547	E>Q		No	ClinGen TOPMed gnomAD
rs1462832742 CA343861815	548	P>R		No	ClinGen gnomAD
rs1158050095 CA343861783	553	V>E		No	ClinGen gnomAD
rs373536420 CA1287297	553	V>L		No	ClinGen ExAC gnomAD
rs373536420 CA33384990	553	V>M		No	ClinGen ExAC gnomAD
CA33384987 rs199777596	554	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1470301178 CA343861778	554	D>N		No	ClinGen TOPMed gnomAD
CA1287296 rs199777596	554	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1196095780 CA343861771	555	K>T		No	ClinGen gnomAD
rs532340082 CA1287295	556	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs199936574 CA1287294	557	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs779793137 CA33384983	560	G>A		No	ClinGen ExAC gnomAD
rs779793137 CA1287293	560	G>D		No	ClinGen ExAC gnomAD
rs745616085 CA1287291	561	I>T		No	ClinGen ExAC gnomAD
CA1287292 rs373515341	561	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs369859478 CA1287290	562	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1287269 rs778961881	567	S>G		No	ClinGen ExAC TOPMed gnomAD
CA343861681 rs1253649260	567	S>N		No	ClinGen TOPMed gnomAD
CA33384829 rs981305067	568	F>L		No	ClinGen TOPMed gnomAD
CA343861649 rs1258372477	571	G>A		No	ClinGen gnomAD
CA1287268 rs755106982	572	A>T		No	ClinGen ExAC TOPMed gnomAD
CA1287267 rs753838363	573	K>N		No	ClinGen ExAC gnomAD
CA1287266 rs140264427	574	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs140264427 CA343861635	574	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1282185973 CA343861626	575	P>L		No	ClinGen gnomAD
CA343861629 rs1341281108	575	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1287263 rs140549505	579	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1314279159 CA343861603	579	R>S		No	ClinGen gnomAD
rs762017997 CA1287262	580	D>N		No	ClinGen ExAC TOPMed gnomAD
CA1287260 rs763608441	585	N>D		No	ClinGen ExAC gnomAD
rs762575205 CA1287259	586	P>R		No	ClinGen ExAC
TCGA novel	594	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343861496 rs1161795345	594	K>N		No	ClinGen gnomAD
CA343861492 rs1558047823	595	M>L		No	ClinGen Ensembl
CA1287257 rs769777321	595	M>T		No	ClinGen ExAC gnomAD
rs759480448 CA1287256	597	V>L		No	ClinGen ExAC TOPMed gnomAD
CA33384828 CA343861462 rs199800822	599	L>F		No	ClinGen TOPMed gnomAD
rs1482119265 CA343861453	601	H>D		No	ClinGen gnomAD
rs1205192399 CA343861403	608	Q>*		No	ClinGen gnomAD
rs1439454308 CA343861377	611	Q>H		No	ClinGen TOPMed gnomAD
CA33384825 rs371763731	613	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA1287254 rs371763731	613	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1232478118 CA343861363	614	I>V		No	ClinGen gnomAD
rs1318599287 CA343489037	617	A>G		No	ClinGen gnomAD
CA343489032 rs1301893376	618	S>T		No	ClinGen gnomAD
rs1372239446 CA343489023	619	S>L		No	ClinGen gnomAD
rs745897591 CA1287228	619	S>T		No	ClinGen ExAC gnomAD
rs757677014 CA1287226	620	I>T		No	ClinGen ExAC TOPMed gnomAD
rs368655971 CA1287227	620	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs147654929 CA1287224	621	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA1287222 rs764817912	622	A>S		No	ClinGen ExAC TOPMed gnomAD
rs764817912 CA1287221	622	A>T		No	ClinGen ExAC TOPMed gnomAD
CA343488993 rs1368242828	624	D>V		No	ClinGen TOPMed gnomAD
TCGA novel	627	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	628	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343488968 rs1571358618	628	F>V		No	ClinGen Ensembl
CA343488961 rs1158848316	629	M>V		No	ClinGen TOPMed
rs1254705083 CA343488949	630	Q>P		No	ClinGen gnomAD
rs370413532 CA1287217	632	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA343488936 rs1186485939	632	M>V		No	ClinGen gnomAD
TCGA novel	634	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	635	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1287216 rs773144981	641	K>E		No	ClinGen ExAC gnomAD
CA33384646 rs761662825	644	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA1287215 rs767221845	644	Q>R		No	ClinGen ExAC gnomAD
CA1287213 rs775878167	646	P>T		No	ClinGen ExAC gnomAD
TCGA novel	648	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA33384644 rs149304336	648	R>G		No	ClinGen ESP TOPMed gnomAD
CA1287211 rs745987472	648	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA33384643 rs867167038	649	A>S		No	ClinGen Ensembl
CA33384642 rs989596016	650	V>L		No	ClinGen TOPMed
CA1287210 rs776573337	651	Q>R		No	ClinGen ExAC gnomAD
rs1558046242 CA343488783	655	H>Y		No	ClinGen Ensembl
CA343488772 rs1244494971	656	P>L		No	ClinGen gnomAD
rs1239868074 CA343488768	657	F>Y		No	ClinGen TOPMed
rs1173052284	658	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA343488750 rs1206307303	659	G>V		No	ClinGen gnomAD
rs1279124953 CA343488740	661	V>L		No	ClinGen TOPMed
rs778298177 CA1287207	662	V>L		No	ClinGen ExAC TOPMed gnomAD
CA343488664 rs1482051483	673	D>G		No	ClinGen gnomAD
CA1287204 rs778574973	673	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA1287203 rs754621630	676	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1486332230 CA343488643	676	K>N		No	ClinGen gnomAD
rs201462809 CA343488641	677	H>N		No	ClinGen gnomAD
CA33384641 rs201462809	677	H>Y		No	ClinGen gnomAD
rs772301942 CA1287184	680	T>A		No	ClinGen ExAC gnomAD
rs1234128082 CA343488599	681	R>K		No	ClinGen gnomAD
rs1234128082 CA343488598	681	R>T		No	ClinGen gnomAD
CA1287182 rs779717097	684	V>A		No	ClinGen ExAC TOPMed gnomAD
CA1287183 rs748898581	684	V>I		No	ClinGen ExAC gnomAD
CA343488572 rs1571356211	685	A>G		No	ClinGen Ensembl
CA343488548 rs1571356202	688	K>N		No	ClinGen Ensembl
CA1287181 rs373286484	691	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs373286484 CA1287180	691	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1558045150 CA343488525	692	G>D		No	ClinGen Ensembl
CA343488527 rs1397147870	692	G>S		No	ClinGen gnomAD
CA343488517 rs1299754034	693	C>Y		No	ClinGen gnomAD
CA1287179 rs781321674	694	S>*		No	ClinGen ExAC
rs757257842 CA1287177	696	L>F		No	ClinGen ExAC gnomAD
rs751462656 CA1287176	697	T>I		No	ClinGen ExAC gnomAD
rs762765199 CA343488444	704	G>E		No	ClinGen ExAC TOPMed gnomAD
rs762765199 CA1287174	704	G>V		No	ClinGen ExAC TOPMed gnomAD
rs139559842 CA1287171	707	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1287172 rs139559842	707	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA1287170 rs773335787	710	Q>E		No	ClinGen ExAC gnomAD
CA343488410 rs1272936158	710	Q>R		No	ClinGen gnomAD
rs772625342 CA1287169	713	Q>P		No	ClinGen ExAC gnomAD
CA1287168 rs762320203	714	C>R		No	ClinGen ExAC gnomAD
rs774774173 CA1287167	719	K>N		No	ClinGen ExAC gnomAD
CA343488338 rs1336352553	720	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1287166 rs137886195	721	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs749617259 CA343488332	721	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs749617259 CA1287165	721	R>L		No	ClinGen ExAC gnomAD
CA343488324 rs1062994	722	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1370042612 CA343488326	722	N>S		No	ClinGen gnomAD
rs1315670517 CA343488322	723	I>L		No	ClinGen TOPMed
CA1287163 rs370728917	724	Q>*		No	ClinGen ESP ExAC gnomAD
rs1462783956 CA343488296	726	A>V		No	ClinGen gnomAD
CA1287162 rs745439090	728	A>T		No	ClinGen ExAC gnomAD
rs553481965 CA1287161	729	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA1287160 rs756773509	731	G>A		No	ClinGen ExAC gnomAD
CA1287159 rs751573986	732	I>V		No	ClinGen ExAC gnomAD
CA1287158 rs777800596	734	I>F		No	ClinGen ExAC TOPMed gnomAD
rs148232633 CA1287140	737	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1287138 rs374997686	739	G>R		No	ClinGen ESP ExAC gnomAD
CA343488199 rs1571350126	740	S>G		No	ClinGen Ensembl
CA343488197 rs1337275090	740	S>N		No	ClinGen gnomAD
TCGA novel	742	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs980881430 CA33384114	744	T>I		No	ClinGen TOPMed
CA343488154 rs1435007545	746	P>H		No	ClinGen gnomAD
rs78444298 CA1287137	746	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA343488126 rs1571350033	750	M>I		No	ClinGen Ensembl
CA1287134 rs750675862	750	M>R		No	ClinGen ExAC gnomAD
rs1252435624 CA1287132	752	G>C		No	ClinGen TOPMed
rs767678243 CA1287131	752	G>D		No	ClinGen ExAC gnomAD
CA343488112 rs751608954	753	D>N		No	ClinGen ExAC gnomAD
CA1287129 rs751608954	753	D>Y		No	ClinGen ExAC gnomAD
rs763506393 CA1287127	756	D>G		No	ClinGen ExAC TOPMed gnomAD
CA1287128 rs764578317	756	D>N		No	ClinGen ExAC gnomAD
CA343488086 rs1249149598	757	T>A		No	ClinGen TOPMed
rs147742369 CA343488063	760	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA1287126 rs147742369	760	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1287124 rs765642179	768	F>C		No	ClinGen ExAC TOPMed gnomAD
rs765642179 CA343488005	768	F>Y		No	ClinGen ExAC TOPMed gnomAD
CA1287123 rs759927115	770	K>R		No	ClinGen ExAC gnomAD
CA1287121 rs770673753	773	S>I		No	ClinGen ExAC gnomAD
rs770673753 CA343487970	773	S>N		No	ClinGen ExAC gnomAD
CA1287122 rs553199268	773	S>R		No	ClinGen 1000Genomes ExAC gnomAD
rs369748310 CA1287120	774	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs771424868 CA1287118	775	I>L		No	ClinGen ExAC TOPMed gnomAD
CA33384113 rs1019032972	777	D>G		No	ClinGen Ensembl
CA1287113 rs756618611	780	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs749061615 CA1287114	780	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1282904731 CA343487925	781	E>Q		No	ClinGen TOPMed
rs1026370585 CA33384112	782	Y>F		No	ClinGen TOPMed
CA1287110 rs764250531	785	V>L		No	ClinGen ExAC gnomAD
TCGA novel	789	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1307484943 CA343487858	791	D>N		No	ClinGen TOPMed
CA1287109 rs376120487	792	K>E		No	ClinGen ESP ExAC gnomAD
CA1287107 rs765636238	794	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1232235846 CA343487826	795	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1287104 rs754246948	796	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1447859530 CA343487676	797	D>A		No	ClinGen TOPMed
TCGA novel	798	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA33383265 rs868738758	798	P>L		No	ClinGen Ensembl
rs761426910 CA1287078	798	P>S		No	ClinGen ExAC TOPMed gnomAD
rs954789563 CA33383264	800	M>T		No	ClinGen Ensembl
rs1558037370 CA343487644	802	N>D		No	ClinGen Ensembl
rs773731528 CA1287077	802	N>K		No	ClinGen ExAC TOPMed gnomAD
CA343487634 rs1466457003	803	E>A		No	ClinGen gnomAD
CA343487615 rs9425634	805	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA343487594 rs1427657261	809	E>K		No	ClinGen TOPMed gnomAD
RCV000736119 rs765435034 CA1287075	811	D>Y		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1195317191 CA343487572	812	S>A		No	ClinGen gnomAD
CA1287074 rs775342844	812	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1287073 rs200970965	813	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1015863066 CA33383263	815	Q>H		No	ClinGen Ensembl
CA343487545 rs1210861159	816	S>G		No	ClinGen gnomAD
rs551639908 CA33383262	819	Q>H		No	ClinGen 1000Genomes TOPMed gnomAD
rs745604474 CA1287072	819	Q>R		No	ClinGen ExAC TOPMed gnomAD
VAR_059306 rs9425343 CA1287071	820	I>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs149252365 CA1287069	822	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1558037277 CA343487501	823	S>G		No	ClinGen Ensembl
rs1279146093 CA343487488	824	S>F		No	ClinGen gnomAD
CA343487467 rs1353684514	827	V>A		No	ClinGen gnomAD
rs1292724839 CA343487461	828	D>G		No	ClinGen TOPMed gnomAD
rs755039079 CA1287066	829	L>F		No	ClinGen ExAC gnomAD
CA1287065 rs559558778	831	D>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1016111008 CA33383261	832	Q>E		No	ClinGen TOPMed
CA343487427 rs1244964573	833	E>A		No	ClinGen TOPMed
rs1244964573 CA343487426	833	E>G		No	ClinGen TOPMed
rs1461302070 CA343487431	833	E>K		No	ClinGen gnomAD
rs756595797 CA1287063	837	E>G		No	ClinGen ExAC gnomAD
rs750723792 CA1287062	838	N>D		No	ClinGen ExAC gnomAD
rs767268568 CA1287061	839	S>A		No	ClinGen ExAC TOPMed gnomAD
rs767268568 CA33383260	839	S>T		No	ClinGen ExAC TOPMed gnomAD
CA1287060 rs756848005	843	H>Q		No	ClinGen ExAC gnomAD
rs1352720434 CA343487364	843	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA343487351 rs1258891195	845	E>K		No	ClinGen gnomAD
TCGA novel	847	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1413739290 CA343487325	849	L>V		No	ClinGen Ensembl
rs762413955 CA1287057	851	D>G		No	ClinGen ExAC gnomAD
CA1287054 rs765123596	852	M>R		No	ClinGen ExAC gnomAD
CA1287056 rs765123596	852	M>T		No	ClinGen ExAC gnomAD
rs1272734962 CA343487301	853	D>N		No	ClinGen gnomAD
CA33383257 CA33383258 rs1046673277	854	N>K		No	ClinGen TOPMed gnomAD
CA1287053 rs759438611	855	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1287052 rs776272651	856	A>S		No	ClinGen ExAC TOPMed gnomAD
CA343487274 rs1390724093	857	S>I		No	ClinGen gnomAD
rs1390724093 CA343487272	857	S>N		No	ClinGen gnomAD
rs1377432314 CA343487271	857	S>R		No	ClinGen gnomAD
rs1461199778 CA343487257	859	S>F		No	ClinGen TOPMed
rs748320398 CA343487255	860	P>S		No	ClinGen ExAC TOPMed gnomAD
rs748320398 CA1287050	860	P>T		No	ClinGen ExAC TOPMed gnomAD
rs774673502 CA1287049	862	E>K		No	ClinGen ExAC gnomAD
rs768878712 CA1287048	863	Q>R		No	ClinGen ExAC gnomAD
CA1287047 rs749356122	864	T>A		No	ClinGen ExAC gnomAD
CA1287045 rs150541662	864	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1287046 rs150541662	864	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA1287044 rs746303687	866	N>D		No	ClinGen ExAC gnomAD
rs1158665042 CA343487208	868	T>A		No	ClinGen TOPMed
rs1208212426 CA343487204	868	T>I		No	ClinGen gnomAD
TCGA novel	869	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1410504641 CA343487199	869	E>G		No	ClinGen TOPMed
CA1287043 rs781425413	871	H>R		No	ClinGen ExAC gnomAD
CA343487180 rs267598231	872	E>*		No	ClinGen gnomAD
CA33383254 rs536664039	872	E>D		No	ClinGen TOPMed gnomAD
CA33383255 rs267598231	872	E>K		No	ClinGen gnomAD
CA343487161 rs1571337845	875	N>D		No	ClinGen Ensembl
CA343487144 rs1266954431	877	N>S		No	ClinGen gnomAD
rs1358617907 CA343487139	878	G>R		No	ClinGen gnomAD
TCGA novel	879	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1053759294 CA33383253	879	E>Q		No	ClinGen gnomAD
CA1287039 rs373699792	880	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	880	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373699792 CA1287038	880	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA343487120 rs1311286980	881	T>A		No	ClinGen gnomAD
rs1331911798 CA343487100	884	D>N		No	ClinGen TOPMed
rs1337503041 CA343487089	885	N>T		No	ClinGen TOPMed
rs1239624068 CA343487068	888	Q>*		No	ClinGen TOPMed
CA343487060 rs1231826486	889	E>K		No	ClinGen gnomAD
rs1225929449 CA343487041	891	S>L		No	ClinGen TOPMed gnomAD
CA343487046 rs1369962195	891	S>T		No	ClinGen gnomAD
CA33383252 rs1052146593	893	T>I		No	ClinGen TOPMed
rs1388118041 CA343487000	897	S>C		No	ClinGen gnomAD
rs759402315 CA1287036	898	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1253039785 CA343486957	903	W>*		No	ClinGen TOPMed
CA343486960 rs1571337690	903	W>G		No	ClinGen Ensembl
CA1287034 rs141657255	903	W>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766116854 CA1287033	904	G>C		No	ClinGen ExAC gnomAD
rs1571337655 CA343486952	904	G>D		No	ClinGen Ensembl
CA343486954 rs766116854	904	G>S		No	ClinGen ExAC gnomAD
rs774763271 CA1287031	905	K>T		No	ClinGen ExAC gnomAD
CA1287030 rs768968700	906	K>N		No	ClinGen ExAC gnomAD
TCGA novel	906	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1287028 rs201554031	907	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201554031 CA1287029	907	V>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA33383251 rs923981838	909	P>L		No	ClinGen TOPMed
rs746368202 CA1287026	910	I>V		No	ClinGen ExAC gnomAD
CA33383250 rs978579078	911	D>G		No	ClinGen Ensembl
CA343486904 rs1215995449	912	S>P		No	ClinGen gnomAD
CA343486897 rs1488626159	913	I>L		No	ClinGen gnomAD
rs747356370 CA1287023	916	D>A		No	ClinGen ExAC gnomAD
CA1287024 rs757588994	916	D>H		No	ClinGen ExAC gnomAD
TCGA novel	916	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343486858 rs1375913094	918	N>K		No	ClinGen gnomAD
rs1177937304 CA343486848	920	D>N		No	ClinGen TOPMed
rs777464237 CA1287022	921	I>T		No	ClinGen ExAC gnomAD
rs948245150 CA33383248	922	E>K		No	ClinGen TOPMed gnomAD
rs948245150 CA33383247	922	E>Q		No	ClinGen TOPMed gnomAD
CA33383246 rs146851109	923	A>T		No	ClinGen ESP TOPMed gnomAD
rs758045939 CA1287021	924	F>Y		No	ClinGen ExAC gnomAD
rs1400089992 CA343486816	925	E>K		No	ClinGen gnomAD
rs778411233 CA1287019	927	M>L		No	ClinGen ExAC gnomAD
CA1287020 rs778411233	927	M>V		No	ClinGen ExAC gnomAD
CA343486776 rs1391902728	930	D>N		No	ClinGen TOPMed
rs753752111 CA1287017	933	L>R		No	ClinGen ExAC TOPMed gnomAD

1 associated diseases with Q9BZQ6

[MIM: 619493]: Congenital disorder of glycosylation 2V (CDG2V)

A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2V is an autosomal recessive form characterized by neurodevelopmental delay and variable facial dysmorphic features. {ECO:0000269|PubMed:34143952}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2V is an autosomal recessive form characterized by neurodevelopmental delay and variable facial dysmorphic features. {ECO:0000269|PubMed:34143952}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for Q9BZQ6

Type	Name	Position	InterPro Accession
domain	Signal recognition particle, SRP54 subunit, GTPase domain	97 - 290	IPR000897
domain	Signal recognition particle, SRP54 subunit, M-domain	322 - 425	IPR004125
domain	Signal recognition particle SRP54, helical bundle	2 - 87	IPR013822

Functions

		Description
EC Number	3.2.1.113	Glycosidases, ie enzymes hydrolyzing O- and S-glycosyl compounds
Subcellular Localization	Endoplasmic reticulum lumen
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum lumen	The volume enclosed by the membranes of the endoplasmic reticulum.
endoplasmic reticulum quality control compartment	A subcompartment of the endoplasmic reticulum in which proteins with improper or incorrect folding accumulate. Enzymes in this compartment direct proteins with major folding problems to translocation to the cytosol and degradation, and proteins with minor folding problems to the ER, to interact with chaperon proteins.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

3 GO annotations of molecular function

Name	Definition
alpha-mannosidase activity	Catalysis of the hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides.
calcium ion binding	Binding to a calcium ion (Ca2+).
mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	Catalysis of the hydrolysis of the terminal (1->2)-linked alpha-D-mannose residues in an oligo-mannose oligosaccharide.

5 GO annotations of biological process

Name	Definition
carbohydrate metabolic process	The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y.
endoplasmic reticulum mannose trimming	Any protein alpha-1,2-demannosylation that takes place in the endoplasmic reticulum quality control compartment (ERQC).
mannose trimming involved in glycoprotein ERAD pathway	The removal of one or more alpha 1,2-linked mannose residues from a mannosylated protein that occurs as part of glycoprotein ER-associated glycoprotein degradation (gpERAD).
protein glycosylation	A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins.
response to unfolded protein	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an unfolded protein stimulus.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q2HXL6	Edem3	ER degradation-enhancing alpha-mannosidase-like protein 3	Mus musculus (Mouse)	PR
Q9FG93	MNS4	Alpha-mannosidase I MNS4	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MSEAGGRGCG	SPVPQRARWR	LVAATAAFCL	VSATSVWTAG	AEPMSREEKQ	KLGNQVLEMF
70	80	90	100	110	120
DHAYGNYMEH	AYPADELMPL	TCRGRVRGQE	PSRGDVDDAL	GKFSLTLIDS	LDTLVVLNKT
130	140	150	160	170	180
KEFEDAVRKV	LRDVNLDNDV	VVSVFETNIR	VLGGLLGGHS	LAIMLKEKGE	YMQWYNDELL
190	200	210	220	230	240
QMAKQLGYKL	LPAFNTTSGL	PYPRINLKFG	IRKPEARTGT	ETDTCTACAG	TLILEFAALS
250	260	270	280	290	300
RFTGATIFEE	YARKALDFLW	EKRQRSSNLV	GVTINIHTGD	WVRKDSGVGA	GIDSYYEYLL
310	320	330	340	350	360
KAYVLLGDDS	FLERFNTHYD	AIMRYISQPP	LLLDVHIHKP	MLNARTWMDA	LLAFFPGLQV
370	380	390	400	410	420
LKGDIRPAIE	THEMLYQVIK	KHNFLPEAFT	TDFRVHWAQH	PLRPEFAEST	YFLYKATGDP
430	440	450	460	470	480
YYLEVGKTLI	ENLNKYARVP	CGFAAMKDVR	TGSHEDRMDS	FFLAEMFKYL	YLLFADKEDI
490	500	510	520	530	540
IFDIEDYIFT	TEAHLLPLWL	STTNQSISKK	NTTSEYTELD	DSNFDWTCPN	TQILFPNDPL
550	560	570	580	590	600
YAQSIREPLK	NVVDKSCPRG	IIRVEESFRS	GAKPPLRARD	FMATNPEHLE	ILKKMGVSLI
610	620	630	640	650	660
HLKDGRVQLV	QHAIQAASSI	DAEDGLRFMQ	EMIELSSQQQ	KEQQLPPRAV	QIVSHPFFGR
670	680	690	700	710	720
VVLTAGPAQF	GLDLSKHKET	RGFVASSKPS	NGCSELTNPE	AVMGKIALIQ	RGQCMFAEKA
730	740	750	760	770	780
RNIQNAGAIG	GIVIDDNEGS	SSDTAPLFQM	AGDGKDTDDI	KIPMLFLFSK	EGSIILDAIR
790	800	810	820	830	840
EYEEVEVLLS	DKAKDRDPEM	ENEEQPSSEN	DSQNQSGEQI	SSSSQEVDLV	DQESSEENSL
850	860	870	880	890	900
NSHPESLSLA	DMDNAASISP	SEQTSNPTEN	HETTNLNGEC	TDLDNQLQEQ	SETEEDSNPN
910	920	930
VSWGKKVQPI	DSILADWNED	IEAFEMMEKD	EL