AiPD: Autoinhibited Protein Database

Q3KR37

Gene name	GRAMD1B (KIAA1201, UNQ3032/PRO9834)
Protein name	Protein Aster-B
Names	GRAM domain-containing protein 1B
Species	Homo sapiens (Human)
KEGG Pathway	hsa:57476
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-123 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-123 (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 Q3KR37

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q3KR37-F1	Predicted				AlphaFoldDB

519 variants for Q3KR37

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1951071576 RCV001291084	128	R>*	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
TCGA novel	2	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6333282 rs752907684	3	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	5	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1320100913 CA383057087	8	C>G		No	ClinGen TOPMed gnomAD
rs76580869 CA229966074	9	T>P		No	ClinGen Ensembl
rs1359906796 CA383063495	10	A>P		No	ClinGen gnomAD
CA383063497 rs1359906796	10	A>T		No	ClinGen gnomAD
rs1041615418 CA229966094	11	S>G		No	ClinGen TOPMed gnomAD
rs993277025 CA229966096	14	N>K		No	ClinGen Ensembl
rs760249355 CA6333321	15	R>G		No	ClinGen ExAC TOPMed gnomAD
CA229966119 rs903048868	15	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA6333322 rs748868785	17	T>A		No	ClinGen ExAC gnomAD
COSM3808626 rs999972541 CA229966150	19	A>T	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1343316648 CA383063605	20	C>Y		No	ClinGen gnomAD
CA229966159 rs868505983	21	S>*		No	ClinGen gnomAD
CA383063649 rs1161546642	24	L>P		No	ClinGen TOPMed
rs894577598 CA229966185	25	R>W		No	ClinGen TOPMed gnomAD
rs1179255945 CA383063676	27	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA383063675 rs1456920849	27	R>W		No	ClinGen gnomAD
CA6333325 rs760044799	28	S>C		No	ClinGen ExAC gnomAD
CA383063690 rs537927876	29	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA383063695 rs1425565204	29	R>L		No	ClinGen gnomAD
CA6333326 rs537927876	29	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1168774150 CA383063711	31	P>S		No	ClinGen gnomAD
rs760901686 CA6333328	32	T>I		No	ClinGen ExAC gnomAD
rs753980128 CA6333330	33	P>A		No	ClinGen ExAC gnomAD
CA6333331 rs757482018	33	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs750472988 CA6333333	34	Q>E		No	ClinGen ExAC gnomAD
CA383063740 rs1370156270	34	Q>R		No	ClinGen gnomAD
CA229966220 rs1024315807	35	N>S		No	ClinGen TOPMed gnomAD
CA229966225 rs1004505378	36	Q>E		No	ClinGen TOPMed
rs1183236305 CA383063763	36	Q>P		No	ClinGen TOPMed gnomAD
rs1183236305 CA383063765	36	Q>R		No	ClinGen TOPMed gnomAD
rs368078644 CA6333334	37	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1198666415 CA383063784	38	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1026084418 CA383063865	45	G>D		No	ClinGen TOPMed
rs1026084418 CA229966234	45	G>V		No	ClinGen TOPMed
CA229966235 rs748022861	47	D>H		No	ClinGen ExAC TOPMed gnomAD
rs748022861 CA6333336	47	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA383063891 rs1592094492	48	H>D		No	ClinGen Ensembl
CA383063894 rs1247125379	48	H>P		No	ClinGen gnomAD
CA383063908 rs1478882645	49	S>C		No	ClinGen gnomAD
rs1435538267 CA383063919	50	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA6333338 rs777548798	50	S>T		No	ClinGen ExAC
CA6333340 rs770509019	51	D>E		No	ClinGen ExAC gnomAD
rs1466228954 CA383063930	51	D>V		No	ClinGen gnomAD
rs1592094665 CA383063941	52	K>R		No	ClinGen Ensembl
rs773851458 CA6333341	53	S>F		No	ClinGen ExAC gnomAD
rs1592094714 CA383063950	53	S>P		No	ClinGen Ensembl
CA6333343 rs2276409	54	P>S		No	ClinGen ExAC gnomAD
CA383063981 rs1275930227	56	T>K		No	ClinGen gnomAD
CA383063993 rs761144627 COSM1208819	57	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC
CA6333345 rs761144627	57	P>Q		No	ClinGen ExAC
TCGA novel	58	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1271474946 CA383064019	60	G>D		No	ClinGen gnomAD
CA383064016 rs1218824523	60	G>S		No	ClinGen gnomAD
rs921395364 CA383064023	61	V>L		No	ClinGen TOPMed gnomAD
COSM1475131 CA229966261 rs921395364	61	V>M	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1209232507 CA383064029	62	Q>K		No	ClinGen gnomAD
CA383064031 rs1290422654	62	Q>R		No	ClinGen TOPMed gnomAD
CA383064038 rs764365722	63	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6333346 rs764365722	63	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1214117874 CA383064057	66	S>P		No	ClinGen gnomAD
COSM1208823 CA383064082 rs1163864464	70	G>S	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1416519760 CA383064091	71	R>L		No	ClinGen gnomAD
CA383064089 rs1416519760	71	R>Q		No	ClinGen gnomAD
rs750564920 CA6333350	71	R>W		No	ClinGen ExAC gnomAD
rs1297932736 CA383064102	73	G>D		No	ClinGen gnomAD
rs763079105 CA6333351	73	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA229966304 rs868846413	74	G>D		No	ClinGen Ensembl
CA6333352 rs767530052	74	G>S		No	ClinGen ExAC TOPMed gnomAD
CA383064109 rs1592095229	75	K>Q		No	ClinGen Ensembl
rs1592095252 CA383064124	76	N>K		No	ClinGen Ensembl
CA383064130 rs1592095284	77	S>F		No	ClinGen Ensembl
CA6333375 rs377168373	80	S>R		No	ClinGen ESP ExAC gnomAD
rs369716573 CA6333376	85	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs763984941 CA6333400	90	T>P		No	ClinGen ExAC gnomAD
CA229978867 rs570959026	95	N>S		No	ClinGen 1000Genomes
CA383066371 rs1322809783	97	D>E		No	ClinGen TOPMed gnomAD
TCGA novel	102	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765007012 CA6333403	106	P>L		No	ClinGen ExAC gnomAD
rs531490633 CA6333404	108	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	113	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA229979313 rs375080947	122	D>H		No	ClinGen ESP
CA383066821 rs1264166646	133	E>A		No	ClinGen gnomAD
TCGA novel	135	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383066859 rs1443514559	136	I>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6333432 rs749660161	141	N>I		No	ClinGen ExAC gnomAD
TCGA novel	142	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	146	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383067548 rs1170206716	152	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA229980211 rs1021191097	152	R>H		No	ClinGen TOPMed gnomAD
CA383067552 rs1021191097	152	R>P		No	ClinGen TOPMed gnomAD
rs1405181132 CA383067574	154	K>E		No	ClinGen gnomAD
rs1480759321 CA383067582	154	K>R		No	ClinGen TOPMed
CA6333457 rs758654739	156	I>V		No	ClinGen ExAC gnomAD
CA383067655 rs1340791303	158	S>A		No	ClinGen TOPMed
CA383067658 rs1304116416	158	S>F		No	ClinGen TOPMed
CA383067673 rs1565436059	159	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1406405547 CA383067668	159	M>V		No	ClinGen gnomAD
TCGA novel	164	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6333458 rs780201409	166	R>H		No	ClinGen ExAC gnomAD
rs1430801211 CA383067787	167	L>I		No	ClinGen gnomAD
rs1013518328 CA229980229	172	I>L		No	ClinGen Ensembl
rs1592193958 CA383067975	179	E>Q		No	ClinGen Ensembl
CA229980230 rs1033800528	180	K>*		No	ClinGen TOPMed gnomAD
CA229982679 rs1047450644	184	T>S		No	ClinGen TOPMed gnomAD
CA383068523 rs1233169320 COSM1146599	185	S>L	lung large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA6333472 rs753231387	188	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs753231387 CA6333471	188	A>T		No	ClinGen ExAC gnomAD
CA383068546 rs1207068677	189	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1351709340 CA383068545	189	R>W		No	ClinGen gnomAD
CA383068565 rs1444981884	192	T>A		No	ClinGen TOPMed
rs900414573 CA229982706	206	E>Q		No	ClinGen TOPMed
TCGA novel	207	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383068701 rs1397025441	209	L>V		No	ClinGen gnomAD
rs763377469 CA6333492	210	C>G		No	ClinGen ExAC gnomAD
TCGA novel	211	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	213	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	215	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766719644 CA383068756	216	H>Q		No	ClinGen ExAC gnomAD
CA383068788 rs1227430707	221	C>R		No	ClinGen gnomAD
CA6333498 rs756116420	225	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6333500 rs564971872	233	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1373547245 CA383068903	237	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	238	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771458771 CA6333505	239	D>E		No	ClinGen ExAC TOPMed gnomAD
rs769186696 CA383068925 CA6333508	240	D>E		No	ClinGen ExAC TOPMed gnomAD
rs747738090 CA6333506	240	D>N		No	ClinGen ExAC TOPMed gnomAD
CA6333509 rs374293269	241	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA229984716 rs895281458	241	D>N		No	ClinGen TOPMed gnomAD
rs774716927 CA6333511	242	F>C		No	ClinGen ExAC gnomAD
CA6333510 rs766828280	242	F>L		No	ClinGen ExAC gnomAD
rs759793942 CA6333512	243	N>K		No	ClinGen ExAC gnomAD
CA6333513 rs767820521	244	T>A		No	ClinGen ExAC TOPMed gnomAD
CA383068947 rs1565448169	244	T>I		No	ClinGen Ensembl
rs756273514 CA6333515	245	M>I		No	ClinGen ExAC gnomAD
rs752857335 CA383068951	245	M>L		No	ClinGen ExAC TOPMed gnomAD
CA229984751 rs1045479840	245	M>R		No	ClinGen TOPMed
CA6333514 rs752857335	245	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1286717396 CA383068982	248	C>S		No	ClinGen TOPMed
rs1049273508 CA229985753	250	E>D		No	ClinGen TOPMed gnomAD
CA6333536 rs766462983	251	I>S		No	ClinGen ExAC TOPMed gnomAD
CA383069009 rs766462983	251	I>T		No	ClinGen ExAC TOPMed gnomAD
rs994687856 CA229985754	253	V>E		No	ClinGen Ensembl
rs754862708 CA6333538	258	V>A		No	ClinGen ExAC TOPMed gnomAD
CA229985763 rs889307024	265	S>R		No	ClinGen TOPMed gnomAD
CA6333540 rs752494131	266	S>N		No	ClinGen ExAC gnomAD
rs1455008458 CA383069122	267	I>V		No	ClinGen gnomAD
CA6333542 rs114589175 RCV000974314	272	D>E		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1349732962 CA383069245	278	P>L		No	ClinGen gnomAD
rs1307248266 CA383069240	278	P>S		No	ClinGen TOPMed gnomAD
rs770423087 CA6333544	282	I>T		No	ClinGen ExAC gnomAD
rs779453804 CA6333545	283	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1472430563 CA383069307	284	N>I		No	ClinGen TOPMed
CA383069332 rs1205423823	286	T>I		No	ClinGen gnomAD
TCGA novel	287	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383069335 rs1480183400	287	L>V		No	ClinGen gnomAD
CA6333548 rs140366389	289	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA383069361 rs1479518380	290	T>P		No	ClinGen gnomAD
CA383069376 rs1592240842	291	G>E		No	ClinGen Ensembl
CA6333550 rs769050280	292	S>G		No	ClinGen ExAC gnomAD
CA383069403 rs1354383551	294	E>K		No	ClinGen gnomAD
rs1443363619 CA383069416	295	A>T		No	ClinGen gnomAD
CA383069443 rs1282107937	297	V>A		No	ClinGen gnomAD
rs113672412 CA6333554	297	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1565451689	298	S>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA229985891 rs759398423	298	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6333555 rs759398423	298	S>W		No	ClinGen ExAC gnomAD
CA6333571 rs748398230	301	G>E		No	ClinGen ExAC gnomAD
rs1453444317 CA383069568	302	L>P		No	ClinGen gnomAD
CA383069573 rs1476036305	303	P>L		No	ClinGen gnomAD
rs373808855 CA229986543	303	P>S		No	ClinGen ExAC gnomAD
rs373808855 CA6333573	303	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1030348550 CA229986547	304	L>P		No	ClinGen TOPMed
rs1383849253 CA383069579	305	E>K		No	ClinGen gnomAD
CA383069600 rs1424407150	307	E>D		No	ClinGen gnomAD
CA6333574 rs771946953	308	A>T		No	ClinGen ExAC TOPMed gnomAD
CA6333575 rs532856454	308	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA383069611 rs1325291798	310	E>K		No	ClinGen gnomAD
CA6333579 rs753560680	311	G>E		No	ClinGen ExAC TOPMed gnomAD
CA6333580 rs756933883	312	D>E		No	ClinGen ExAC TOPMed gnomAD
CA383069626 rs1380375088	312	D>Y		No	ClinGen gnomAD
CA6333583 rs757894340	313	G>E		No	ClinGen ExAC gnomAD
rs749953166 CA6333582	313	G>R		No	ClinGen ExAC gnomAD
rs757894340 CA383069633	313	G>V		No	ClinGen ExAC gnomAD
rs1592246731 CA383069636	314	S>A		No	ClinGen Ensembl
CA383069639 rs747509131	314	S>F		No	ClinGen ExAC TOPMed gnomAD
CA6333585 rs747509131	314	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs1447653328 CA383069643	315	L>P		No	ClinGen TOPMed gnomAD
rs149488546 CA6333586	317	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs267602745 CA229986641	318	E>K		No	ClinGen Ensembl
rs1046775434 CA383069671	319	L>P		No	ClinGen gnomAD
rs1046775434 CA229986645	319	L>R		No	ClinGen gnomAD
CA6333587 rs375511617	320	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
COSM4145426 rs191981781 CA6333588	321	I>V	thyroid [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA6333589 rs114469707	323	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs114469707 CA383069694	323	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376872587 CA229986655	324	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs376872587 CA6333590	324	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA383069710 rs1322519595	325	M>I		No	ClinGen TOPMed gnomAD
rs371265661 CA6333591	325	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA383069711 rs1403860607	326	G>R		No	ClinGen gnomAD
CA383069719 rs1451766272	327	E>K		No	ClinGen gnomAD
rs774236612 CA6333593	329	I>T		No	ClinGen ExAC gnomAD
CA229986686 rs370508125	330	E>D		No	ClinGen ESP TOPMed gnomAD
CA229986691 rs76756402	331	M>L		No	ClinGen ExAC gnomAD
CA6333594 rs76756402	331	M>V		No	ClinGen ExAC gnomAD
CA383069755 rs1279173737	332	I>F		No	ClinGen gnomAD
rs776432140 CA6333596	333	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	334	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1432159441 CA383069767	334	P>S		No	ClinGen TOPMed
CA383069773 rs1261292885	335	V>M		No	ClinGen gnomAD
TCGA novel	337	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761575476 CA6333597	338	P>S		No	ClinGen ExAC gnomAD
rs764839388 CA6333598	339	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1258706185 CA383069817	342	F>Y		No	ClinGen gnomAD
rs1029451265 CA229986713	343	N>D		No	ClinGen TOPMed gnomAD
CA383069825 rs377539345	343	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6333599 rs377539345	343	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1362832679 CA383069831	344	D>A		No	ClinGen gnomAD
CA383069835 rs1472693993	344	D>E		No	ClinGen gnomAD
rs1160778334 CA383069837	345	N>D		No	ClinGen gnomAD
rs1426518441 CA383069840	345	N>S		No	ClinGen gnomAD
rs866068201 CA229986720	347	D>G		No	ClinGen Ensembl
rs1317231120 CA383069865	348	I>M		No	ClinGen TOPMed gnomAD
CA383069895 rs1389438565	353	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6333602 rs751049869	357	D>N		No	ClinGen ExAC TOPMed gnomAD
rs867480430 CA229986747	359	H>N		No	ClinGen Ensembl
CA6333603 rs755577223	360	D>N	Variant assessed as Somatic; 4.675e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA383062747 rs1183869073	363	E>K		No	ClinGen gnomAD
CA6333642 rs200540342	364	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1160028716 CA383062761	365	Q>*		No	ClinGen gnomAD
CA383062763 rs1339548414	365	Q>P		No	ClinGen TOPMed
rs373699394 CA6333643	368	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA229948535 rs373699394	368	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1468703173 CA383062789	369	E>K		No	ClinGen gnomAD
CA383062824 rs1450603005	374	R>Q		No	ClinGen gnomAD
rs748832223 CA229948539	374	R>W		No	ClinGen gnomAD
CA383062833 rs1304266955	375	Q>H		No	ClinGen gnomAD
CA6333646 rs750631307	377	V>M		No	ClinGen ExAC TOPMed gnomAD
CA6333647 rs758559482	381	F>L		No	ClinGen ExAC gnomAD
CA229948580 rs770386203	382	N>S		No	ClinGen Ensembl
CA383062904 rs1385913574	385	V>A		No	ClinGen TOPMed
TCGA novel	385	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383062900 COSM1352170 rs1262409324	385	V>M	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs367844387 CA6333649	389	Y>C		No	ClinGen ESP ExAC gnomAD
rs777552496 CA6333651	390	D>E		No	ClinGen ExAC gnomAD
COSM1352172 rs1183079679 CA383062942	391	L>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA229948621 rs554684318	391	L>R		No	ClinGen 1000Genomes
CA383062954 rs1176395644	393	F>L		No	ClinGen gnomAD
rs1426446805 CA383062962	394	T>A		No	ClinGen gnomAD
CA383062968 rs1416610584	395	N>D		No	ClinGen gnomAD
rs374919881 CA6333652	396	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1000145974 CA229948665	397	P>S		No	ClinGen TOPMed gnomAD
rs774227885 CA6333654	400	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs745517263 CA383063006	401	D>N		No	ClinGen ExAC TOPMed gnomAD
rs745517263 CA6333655	401	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA383063013 rs1402522933	402	F>I		No	ClinGen TOPMed gnomAD
TCGA novel	404	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs958828726 CA229948718	404	E>K		No	ClinGen TOPMed gnomAD
rs760013778 CA229948730	405	Q>E		No	ClinGen Ensembl
rs1368239562 CA383063043	405	Q>H		No	ClinGen gnomAD
CA229948739 rs1012745976	406	R>Q		No	ClinGen TOPMed gnomAD
rs1024525756 CA229948746	407	R>C		No	ClinGen TOPMed
CA229948749 rs371994802	407	R>H		No	ClinGen ESP TOPMed gnomAD
rs771808457 CA6333656	408	F>Y		No	ClinGen ExAC TOPMed gnomAD
CA383063089 rs1450598849	411	I>T		No	ClinGen TOPMed gnomAD
rs772568357 CA229950026	412	I>M		No	ClinGen TOPMed gnomAD
CA229950022 rs760097861	412	I>N		No	ClinGen TOPMed
rs1383706222 CA383063094	412	I>V		No	ClinGen gnomAD
CA383063110 rs1162276287	414	H>L		No	ClinGen TOPMed gnomAD
CA383063109 rs1162276287	414	H>R		No	ClinGen TOPMed gnomAD
CA383063116 rs1316181066	415	P>Q		No	ClinGen gnomAD
CA383063114 rs1406577746	415	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA383063125 rs1435660703	416	W>*		No	ClinGen gnomAD
CA383063129 rs1204307633	417	K>*		No	ClinGen TOPMed
rs918117659 CA229950042	417	K>R		No	ClinGen Ensembl
rs776005482 CA229950069	419	E>K		No	ClinGen TOPMed
rs757192032 CA6333671	420	E>D		No	ClinGen ExAC gnomAD
TCGA novel	421	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1284979934 CA383063165	422	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs778881141 CA6333672	429	L>I		No	ClinGen ExAC gnomAD
CA383063229 rs1465758519	431	T>I		No	ClinGen gnomAD
rs1211051190 CA383063232	432	I>V		No	ClinGen TOPMed gnomAD
rs771900117 CA383063243	433	T>I		No	ClinGen ExAC TOPMed gnomAD
rs771900117 CA6333674	433	T>N		No	ClinGen ExAC TOPMed gnomAD
CA383063239 rs1592264224	433	T>P		No	ClinGen Ensembl
rs774973587 CA6333675	434	L>F		No	ClinGen ExAC gnomAD
rs1592264296 CA383063259	436	N>T		No	ClinGen Ensembl
rs760967017 CA229950118	437	P>L		No	ClinGen gnomAD
rs746597994 CA6333676	439	A>T		No	ClinGen ExAC gnomAD
rs201009984 CA6333679	442	T>P		No	ClinGen ExAC gnomAD
TCGA novel	443	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383063298 rs1457769586	443	A>T		No	ClinGen gnomAD
CA383063307 rs1161268135	444	T>S		No	ClinGen gnomAD
CA6333681 rs764491640	445	V>I		No	ClinGen ExAC TOPMed gnomAD
CA383063316 rs1334522808	446	R>K		No	ClinGen gnomAD
CA383063332 rs1297351943	448	T>K		No	ClinGen TOPMed
rs774707387 CA6333702	454	A>V		No	ClinGen ExAC TOPMed gnomAD
CA383063411 rs1452688501	457	E>G		No	ClinGen gnomAD
TCGA novel	457	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383063420 rs1329911488	458	S>N		No	ClinGen Ensembl
TCGA novel	462	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1379208489 CA383063448	462	V>M		No	ClinGen gnomAD
TCGA novel	466	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383063477 rs1261074275	466	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA383063496 rs1191880391	467	V>I		No	ClinGen TOPMed
rs1592266396 CA383063524	469	T>P		No	ClinGen Ensembl
rs752871193 CA383063554	470	H>Q		No	ClinGen ExAC gnomAD
rs542866239 CA6333706	471	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA6333707 rs765331397	472	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA383063638 rs10893053	475	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA383063631 rs1387920256	475	H>R		No	ClinGen gnomAD
rs758353236 CA6333709	478	F>S		No	ClinGen ExAC
rs1325090049 CA383063704	479	Y>D		No	ClinGen gnomAD
CA383063735 rs1230075351	481	I>V		No	ClinGen gnomAD
CA6333710 rs779719653	485	T>M		No	ClinGen ExAC TOPMed gnomAD
CA6333711 rs751330868	486	L>I		No	ClinGen ExAC gnomAD
rs1318330456 CA383063851	487	T>I		No	ClinGen TOPMed
CA383063858 rs1216696944	488	R>C		No	ClinGen TOPMed
rs573181030 CA6333712	488	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA383063892 rs1301307776	490	A>V		No	ClinGen TOPMed
COSM3687139 CA6333713 rs780877280	491	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA383063898 rs1390495624	491	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1368020418 CA383063926	493	K>E		No	ClinGen gnomAD
rs755934019 CA229950670	494	S>T		No	ClinGen Ensembl
rs747701660 CA6333714	495	R>Q		No	ClinGen ExAC gnomAD
CA383064215 rs1592278576	498	V>G		No	ClinGen Ensembl
rs1348079401 CA383064210	498	V>I		No	ClinGen gnomAD
rs1565465448 CA383064223	500	T>S		No	ClinGen Ensembl
CA383064243 rs1331085646	503	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6333736 rs748744678	503	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6333737 rs748744678	503	R>L		No	ClinGen ExAC TOPMed gnomAD
rs969160143 CA383064253	505	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs969160143 CA229953522	505	R>G		No	ClinGen gnomAD
rs779442588 CA6333738	505	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1249789698 CA383064269	507	Q>R		No	ClinGen gnomAD
CA383064291 rs1272715913	510	G>E		No	ClinGen TOPMed
TCGA novel	511	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1247803361 CA383064320	514	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6333742 rs747239385	517	E>K		No	ClinGen ExAC
CA6333744 rs776874803	518	K>R		No	ClinGen ExAC gnomAD
rs761933797 CA6333745	526	D>N		No	ClinGen ExAC gnomAD
CA6333746 rs766270069	527	Y>*		No	ClinGen ExAC gnomAD
rs1329532401 CA383064410	527	Y>H		No	ClinGen TOPMed
rs774345801 CA6333747	529	R>C		No	ClinGen ExAC gnomAD
rs538509009 COSM1352174 CA6333748	529	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs773095404 CA6333764	532	E>G		No	ClinGen ExAC gnomAD
CA383064467 rs1350417509	533	S>N		No	ClinGen gnomAD
CA6333766 rs374304588 COSM1585458	534	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
rs62641672 CA6333769	536	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs371958694 CA6333768	536	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6333770 rs369825461	538	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	545	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373054264 CA6333772	546	M>L		No	ClinGen ExAC gnomAD
rs1247862121 CA383064595	547	H>N		No	ClinGen gnomAD
TCGA novel	548	R>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	548	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749861438 CA6333773	549	Q>K		No	ClinGen ExAC gnomAD
CA6333774 rs758997685	550	S>C		No	ClinGen ExAC gnomAD
CA383064661 rs1434749828	552	K>T		No	ClinGen TOPMed
rs780686154 CA6333776	553	E>D		No	ClinGen ExAC TOPMed gnomAD
CA383064699 rs1190590583	557	K>R		No	ClinGen TOPMed
rs946321091 CA383064710	559	T>A		No	ClinGen TOPMed gnomAD
CA383064713 rs1202535829	559	T>I		No	ClinGen TOPMed
rs946321091 CA229954239	559	T>S		No	ClinGen TOPMed gnomAD
CA6333780 rs769863986	560	T>A		No	ClinGen ExAC TOPMed gnomAD
rs199604534 CA6333781	560	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368784935 CA6333785 COSM1352176	562	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
rs772035485 CA6333784	562	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA383064729 rs1314374755	563	R>K		No	ClinGen TOPMed
COSM1585457 rs1357437283 CA383064751	566	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs768451724 COSM3415621 CA6333786	566	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs768451724 CA383064753	566	R>P		No	ClinGen ExAC TOPMed gnomAD
rs894915963 CA229954327	568	H>R		No	ClinGen TOPMed
rs776221454 CA6333787	569	A>T		No	ClinGen ExAC gnomAD
CA6333790 rs749999499	570	H>L		No	ClinGen ExAC TOPMed gnomAD
CA6333789 rs764749144	570	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	572	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6333791 rs762523319	572	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA383064799 rs1257670898	575	H>N		No	ClinGen gnomAD
CA383064808 rs1179975438	576	L>V		No	ClinGen TOPMed gnomAD
CA383064829 rs755488531	579	V>L		No	ClinGen ExAC TOPMed gnomAD
CA6333794 rs755488531	579	V>M		No	ClinGen ExAC TOPMed gnomAD
CA383064836 rs1399794477	580	M>R		No	ClinGen gnomAD
CA383064834 rs1160090336	580	M>V		No	ClinGen gnomAD
CA229954361 rs373889123	581	S>G		No	ClinGen ESP TOPMed
CA383064853 rs1414178795	582	P>L		No	ClinGen TOPMed gnomAD
CA383064854 rs1414178795	582	P>R		No	ClinGen TOPMed gnomAD
rs557839467 CA6333798	583	V>F		No	ClinGen 1000Genomes ExAC gnomAD
CA6333797 rs557839467	583	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1452676344 CA383064860	584	T>A		No	ClinGen Ensembl
rs757313912 CA6333800	585	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs912435884 CA229954400	588	D>N		No	ClinGen TOPMed gnomAD
CA383064883 rs912435884	588	D>Y		No	ClinGen TOPMed gnomAD
CA6333801 rs778905988	590	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1484430156 CA383064906	590	D>Y		No	ClinGen TOPMed
CA6333802 rs575823580	591	V>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1280558584 CA383064932	592	G>D		No	ClinGen TOPMed gnomAD
CA383064927 rs1199568658	592	G>S		No	ClinGen gnomAD
TCGA novel	592	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6333803 rs373969484	597	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1202425504 COSM3728086 CA383065012	598	V>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
rs377530501 CA6333821	600	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs773086921 CA6333824	605	R>Q		No	ClinGen ExAC gnomAD
CA6333823 COSM1208817 rs769465102	605	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs748956557 CA6333825	606	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA6333826 rs370988688	608	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA383065597 rs1214237041	609	E>D		No	ClinGen gnomAD
rs200711609 CA6333828	609	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1565470137 CA383065605	610	D>G		No	ClinGen Ensembl
CA6333830 rs375570291	610	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA6333829 rs375570291	610	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA6333831 rs761185461	611	T>I		No	ClinGen ExAC gnomAD
CA6333833 rs754161430	612	P>L		No	ClinGen ExAC gnomAD
rs754161430 CA383065631	612	P>R		No	ClinGen ExAC gnomAD
rs1592288801 CA383065627	612	P>S		No	ClinGen Ensembl
rs757493522 CA6333834	613	N>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	613	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs534553453 CA383065647	614	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	614	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6333836 rs534553453	614	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6333837 rs534553453	614	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6333838 rs781251456	616	H>Y		No	ClinGen ExAC gnomAD
rs201812830 CA6333839	618	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA383065717 rs374118769	619	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA229955689 rs770363124	620	V>M		No	ClinGen TOPMed gnomAD
CA383065773 rs1163327613	624	L>P		No	ClinGen TOPMed
rs1310036362 CA383065799	627	I>V		No	ClinGen TOPMed gnomAD
rs778697361 CA6333844	629	C>S		No	ClinGen ExAC gnomAD
CA6333845 rs745453238	630	V>M		No	ClinGen ExAC gnomAD
rs1211941355 CA383067323	634	S>G		No	ClinGen TOPMed
rs1443449023 CA383067451	636	V>M		No	ClinGen gnomAD
rs375428225 CA6333883	639	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA383067475 rs375428225	639	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6333884 rs746558109	640	I>M		No	ClinGen ExAC gnomAD
TCGA novel	640	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383067543 rs1213612735	642	N>K		No	ClinGen gnomAD
CA6333886 rs780611834	643	M>V		No	ClinGen ExAC gnomAD
rs1311437280 CA383067596	644	M>I		No	ClinGen TOPMed
rs1006465006 CA229959464	647	Y>H		No	ClinGen TOPMed
TCGA novel	647	Y>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770234763 CA6333888	648	K>R		No	ClinGen ExAC gnomAD
rs1291145842 CA383067686	649	L>F		No	ClinGen TOPMed
rs773476425 CA6333889	651	M>I		No	ClinGen ExAC gnomAD
rs1186594571 CA383067731	651	M>V		No	ClinGen gnomAD
CA383067836 rs1592310591	655	T>A		No	ClinGen Ensembl
rs775623707 CA229959503	655	T>I		No	ClinGen TOPMed
rs775623707 CA383067840	655	T>N		No	ClinGen TOPMed
rs775623707 CA229959496	655	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA6333890 rs549560391	656	T>M		No	ClinGen ExAC TOPMed gnomAD
CA229959543 rs760937431	657	Q>*		No	ClinGen Ensembl
CA383067887 rs1395001592	657	Q>H		No	ClinGen gnomAD
CA383067903 rs1462850443	658	T>S		No	ClinGen gnomAD
rs1326089661 CA383067937	660	T>A		No	ClinGen TOPMed gnomAD
rs1431670868 CA383067987	662	W>*		No	ClinGen gnomAD
CA383068025 rs1377048609	664	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1272069804 CA383068016	664	G>S		No	ClinGen gnomAD
CA383068045 rs1478030113	666	R>K		No	ClinGen TOPMed
rs947730358 CA229959563	666	R>S		No	ClinGen TOPMed gnomAD
CA383068078 rs752169349	668	Q>H		No	ClinGen TOPMed gnomAD
TCGA novel	669	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383068099 rs774631746	670	R>G		No	ClinGen ExAC gnomAD
rs774631746 CA6333892	670	R>W		No	ClinGen ExAC gnomAD
rs766011731 CA6333900	672	P>S		No	ClinGen ExAC gnomAD
rs1377336512 CA383068221	675	Q>H		No	ClinGen gnomAD
rs1408586274 CA383068230	676	T>K		No	ClinGen gnomAD
rs1328730446 CA383068254	678	W>*		No	ClinGen gnomAD
TCGA novel	678	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1336833794 CA383068257	679	A>T		No	ClinGen gnomAD
CA229959926 rs867595369	680	Q>K		No	ClinGen Ensembl
TCGA novel	680	Q>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148264959 CA6333903	684	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	685	Q>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747612717 CA383068308	686	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs747612717 CA6333904	686	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	687	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383068323 rs1193530640	688	Y>C		No	ClinGen gnomAD
rs1565477915 CA383068329	689	H>N		No	ClinGen Ensembl
CA6333906 rs370259530	690	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	696	W>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1565478028 CA383068435	703	S>L		No	ClinGen Ensembl
CA229960005 rs969001195	705	M>T		No	ClinGen TOPMed gnomAD
rs1365651947 CA383069144	710	M>I		No	ClinGen TOPMed
rs1452238751 CA383069131	710	M>V		No	ClinGen TOPMed
CA229963397 rs981266512	711	K>R		No	ClinGen TOPMed
rs1451461778 CA383069183	712	D>G		No	ClinGen TOPMed
rs538908520 CA383069203	713	S>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs538908520 CA6333927	713	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780652358 CA229963418	715	I>V		No	ClinGen gnomAD
rs1160222847 CA383069258	716	N>I		No	ClinGen gnomAD
rs1382909997 CA383069261	716	N>K		No	ClinGen TOPMed
CA229963426 rs4083122	717	L>F		No	ClinGen Ensembl
CA229963431 rs866062141	718	Q>K		No	ClinGen Ensembl
rs1162502089 CA383069289	718	Q>R		No	ClinGen TOPMed
rs772471280 CA6333930	720	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA383069321 rs1179974608	720	G>S		No	ClinGen TOPMed gnomAD
CA383069348 rs1374311060	721	I>M		No	ClinGen gnomAD
rs1415377499 CA383069379	723	S>F		No	ClinGen gnomAD
CA383069387 rs780409933	724	R>C		No	ClinGen ExAC gnomAD
rs780409933 CA6333931	724	R>G		No	ClinGen ExAC gnomAD
rs747151599 CA6333932	724	R>H		No	ClinGen ExAC gnomAD
CA383069444 rs368223750	727	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6333934 rs368223750	727	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6333933 rs368223750	727	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6333935 rs370949646	728	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1026118502 CA229963487	730	S>G		No	ClinGen TOPMed gnomAD
CA229963490 rs986113458	730	S>N		No	ClinGen TOPMed
CA229963495 rs911438812	730	S>R		No	ClinGen TOPMed
CA6333937 rs774167637	731	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA383069500 rs1480557545	734	R>M		No	ClinGen gnomAD
CA229963507 rs545662974	735	N>S		No	ClinGen Ensembl
CA383069512 rs1253101591	736	R>C		No	ClinGen gnomAD
CA229963522 rs901617580	736	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA383069514 rs901617580	736	R>L		No	ClinGen TOPMed gnomAD
rs951873344 CA229963526	737	Y>C		No	ClinGen Ensembl
CA383069535 rs1434836714	739	H>C		No	ClinGen gnomAD

No associated diseases with Q3KR37

2 regional properties for Q3KR37

Type	Name	Position	InterPro Accession
domain	GRAM domain	96 - 203	IPR004182
domain	VASt domain	372 - 543	IPR031968

Functions

		Description
EC Number
Subcellular Localization	Endoplasmic reticulum membrane ; Single-pass membrane protein Cell membrane ; Single-pass membrane protein	In lipid-poor conditions localizes to the ER membrane and in response to excess cholesterol in the PM is recruited to the endoplasmic reticulum-plasma membrane contact sites (EPCS)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
endoplasmic reticulum-plasma membrane contact site	A contact site between the endoplasmic reticulum membrane and the plasma membrane, structured by bridging complexes.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

6 GO annotations of molecular function

Name	Definition
cholesterol binding	Binding to cholesterol (cholest-5-en-3-beta-ol); the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones.
cholesterol transfer activity	Removes cholesterol from a membrane or a monolayer lipid particle, transports it through the aqueous phase while protected in a hydrophobic pocket, and brings it to an acceptor membrane or lipid particle.
phosphatidic acid binding	Binding to phosphatidic acid, any of a class of glycerol phosphate in which both the remaining hydroxyl groups of the glycerol moiety are esterified with fatty acids.
phosphatidylserine binding	Binding to phosphatidylserine, a class of glycophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of L-serine.
sterol binding	Binding to a sterol, a steroid containing a hydroxy group in the 3 position, closely related to cholestan-3-ol.
sterol transfer activity	Removes a sterol from a membrane or a monolayer lipid particle, transports it through the aqueous phase while protected in a hydrophobic pocket, and brings it to an acceptor membrane or lipid particle.

3 GO annotations of biological process

Name	Definition
cellular response to cholesterol	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cholesterol stimulus.
cholesterol homeostasis	Any process involved in the maintenance of an internal steady state of cholesterol within an organism or cell.
intracellular sterol transport	The directed movement of sterols within cells.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8IYS0	GRAMD1C	Protein Aster-C	Homo sapiens (Human)	PR
Q96CP6	GRAMD1A	Protein Aster-A	Homo sapiens (Human)	PR
Q80TI0	Gramd1b	Protein Aster-B	Mus musculus (Mouse)	PR
Q9ZVT9	At1g03370	C2 and GRAM domain-containing protein At1g03370	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FGS8	At5g50170	C2 and GRAM domain-containing protein At5g50170	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MKGFKLSCTA	SNSNRSTPAC	SPILRKRSRS	PTPQNQDGDT	MVEKGSDHSS	DKSPSTPEQG
70	80	90	100	110	120
VQRSCSSQSG	RSGGKNSKKS	QSWYNVLSPT	YKQRNEDFRK	LFKQLPDTER	LIVDYSCALQ
130	140	150	160	170	180
RDILLQGRLY	LSENWICFYS	NIFRWETLLT	VRLKDICSMT	KEKTARLIPN	AIQVCTDSEK
190	200	210	220	230	240
HFFTSFGARD	RTYMMMFRLW	QNALLEKPLC	PKELWHFVHQ	CYGNELGLTS	DDEDYVPPDD
250	260	270	280	290	300
DFNTMGYCEE	IPVEENEVND	SSSKSSIETK	PDASPQLPKK	SITNSTLTST	GSSEAPVSFD
310	320	330	340	350	360
GLPLEEEALE	GDGSLEKELA	IDNIMGEKIE	MIAPVNSPSL	DFNDNEDIPT	ELSDSSDTHD
370	380	390	400	410	420
EGEVQAFYED	LSGRQYVNEV	FNFSVDKLYD	LLFTNSPFQR	DFMEQRRFSD	IIFHPWKKEE
430	440	450	460	470	480
NGNQSRVILY	TITLTNPLAP	KTATVRETQT	MYKASQESEC	YVIDAEVLTH	DVPYHDYFYT
490	500	510	520	530	540
INRYTLTRVA	RNKSRLRVST	ELRYRKQPWG	LVKTFIEKNF	WSGLEDYFRH	LESELAKTES
550	560	570	580	590	600
TYLAEMHRQS	PKEKASKTTT	VRRRKRPHAH	LRVPHLEEVM	SPVTTPTDED	VGHRIKHVAG
610	620	630	640	650	660
STQTRHIPED	TPNGFHLQSV	SKLLLVISCV	ICFSLVLLVI	LNMMLFYKLW	MLEYTTQTLT
670	680	690	700	710	720
AWQGLRLQER	LPQSQTEWAQ	LLESQQKYHD	TELQKWREII	KSSVMLLDQM	KDSLINLQNG
730
IRSRDYTSES	EEKRNRYH