AiPD: Autoinhibited Protein Database

Q96JB2

Gene name	COG3 (SEC34)
Protein name	Conserved oligomeric Golgi complex subunit 3
Names	COG complex subunit 3, Component of oligomeric Golgi complex 3, Vesicle-docking protein SEC34 homolog, p94
Species	Homo sapiens (Human)
KEGG Pathway	hsa:83548
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

476-568 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

476-568 (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 Q96JB2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96JB2-F1	Predicted				AlphaFoldDB

537 variants for Q96JB2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs760744868 CA388097042	2	A>G		No	ClinGen ExAC TOPMed gnomAD
rs760744868 CA6972094	2	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6972096 rs766640714	4	A>V		No	ClinGen ExAC gnomAD
rs1238444436 CA388097101	5	A>V		No	ClinGen TOPMed
TCGA novel	6	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388097126 rs1182549898	7	L>M		No	ClinGen TOPMed
CA249143698 rs997687835	10	P>L		No	ClinGen TOPMed gnomAD
CA6972098 rs200180168	12	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6972099 rs759235670	14	A>V		No	ClinGen ExAC gnomAD
CA249143699 rs564733357	16	R>W		No	ClinGen 1000Genomes gnomAD
rs1440223953 CA388097287	17	D>E		No	ClinGen gnomAD
rs764947212 CA6972100	17	D>H		No	ClinGen ExAC TOPMed gnomAD
rs752423674 CA6972101	21	K>Q		No	ClinGen ExAC gnomAD
CA249143701 rs958342295	24	L>F		No	ClinGen TOPMed gnomAD
CA388097378 rs958342295	24	L>V		No	ClinGen TOPMed gnomAD
rs1176539929 CA388097386	25	W>R		No	ClinGen gnomAD
rs763660050 CA6972103	26	D>E		No	ClinGen ExAC gnomAD
CA388097409 rs1305806207	26	D>Y		No	ClinGen Ensembl
rs757274309 CA6972105	27	R>L		No	ClinGen ExAC gnomAD
rs751444143 CA6972104	27	R>W		No	ClinGen ExAC gnomAD
CA249143702 rs1054413377	28	R>I		No	ClinGen gnomAD
rs1054413377 CA388097438	28	R>T		No	ClinGen gnomAD
CA388097479 rs1307662926	30	D>G		No	ClinGen gnomAD
rs373457132 CA6972106	32	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs900671515 CA249143703	34	P>S		No	ClinGen Ensembl
rs528692223 CA6972107	36	T>N		No	ClinGen 1000Genomes ExAC gnomAD
rs528692223 CA249143704	36	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs755933277 CA6972108	37	D>H		No	ClinGen ExAC TOPMed gnomAD
rs755933277 CA388097553	37	D>N		No	ClinGen ExAC TOPMed gnomAD
CA6972110 rs141222488	40	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA6972109 rs141222488	40	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA388097621 rs1207659083	41	D>E		No	ClinGen gnomAD
rs1593662605 CA388097615	41	D>G		No	ClinGen Ensembl
rs1259403392 CA388097629	42	S>A		No	ClinGen gnomAD
rs1030432576 CA249143705	42	S>L		No	ClinGen Ensembl
rs777968918 CA6972112	45	E>K		No	ClinGen ExAC gnomAD
CA388097703 rs1566235803	47	K>R		No	ClinGen Ensembl
rs543312923 CA249143706	48	A>T		No	ClinGen Ensembl
rs747451750 CA6972113	52	N>K		No	ClinGen ExAC gnomAD
CA388097796 rs777312080	54	P>L		No	ClinGen ExAC gnomAD
CA6972115 rs777312080	54	P>R		No	ClinGen ExAC gnomAD
CA6972114 rs771511545	54	P>S		No	ClinGen ExAC gnomAD
CA6972116 rs759935145	55	V>L		No	ClinGen ExAC gnomAD
CA388097809 rs1162544716	56	P>S		No	ClinGen TOPMed
CA249143707 rs144983754	57	A>V		No	ClinGen ESP gnomAD
CA6972140 rs563015747	61	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs563015747 CA6972139	61	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1566241841 CA388099862	62	E>V		No	ClinGen Ensembl
CA249147185 rs949858959	64	L>S		No	ClinGen Ensembl
CA388099966 rs1000819946	66	S>C		No	ClinGen TOPMed
CA6972141 rs761337145	66	S>N		No	ClinGen ExAC gnomAD
CA249147199 rs1000819946	66	S>R		No	ClinGen TOPMed
CA388099989 rs1263721850	67	L>S		No	ClinGen gnomAD
rs1404924947 CA388100073	70	Q>H		No	ClinGen gnomAD
CA6972142 rs767026599	71	S>L		No	ClinGen ExAC gnomAD
CA6972144 rs760663951	74	I>F		No	ClinGen ExAC
rs1422132981 CA388100147	74	I>M		No	ClinGen gnomAD
rs371170689 CA6972145	74	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs41289557 COSM3955619 CA6972146	75	E>K	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	78	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1341912314 CA388100225	80	V>M		No	ClinGen gnomAD
CA249147298 rs1030141863	82	E>G		No	ClinGen Ensembl
rs190361011 CA6972149	82	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757298983 CA6972151	87	I>S		No	ClinGen ExAC gnomAD
rs757298983 CA388100326	87	I>T		No	ClinGen ExAC gnomAD
rs781485191 CA6972152	88	L>I		No	ClinGen ExAC gnomAD
rs756730840 CA6972154	89	L>F		No	ClinGen ExAC gnomAD
CA6972156 rs749623132	94	S>F		No	ClinGen ExAC TOPMed gnomAD
rs549273495 CA6972157	96	G>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	96	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773996809 CA6972158	97	M>T		No	ClinGen ExAC TOPMed gnomAD
rs932872254 CA249147336	99	E>K		No	ClinGen TOPMed
CA388100466 rs1235861564	100	E>D		No	ClinGen gnomAD
rs1442062165 CA388100467	101	R>G		No	ClinGen gnomAD
CA249147337 rs982739229	101	R>I		No	ClinGen gnomAD
rs142027095 CA6972160	105	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388100532 rs1488327262	107	Q>R		No	ClinGen gnomAD
rs779203739 CA6972176	110	S>L		No	ClinGen ExAC gnomAD
CA6972177 rs368094987	112	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6972178 rs771753816	114	K>E		No	ClinGen ExAC TOPMed gnomAD
CA6972180 rs746476176	115	L>M		No	ClinGen ExAC TOPMed gnomAD
CA6972181 rs770443610	117	T>S		No	ClinGen ExAC gnomAD
rs759461757 CA6972183	118	Q>H		No	ClinGen ExAC gnomAD
CA6972184 rs138285206	119	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	124	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388101548 rs1266499555	129	Q>*		No	ClinGen gnomAD
CA6972196 rs777351198	129	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs746672373 CA6972197	130	M>K		No	ClinGen ExAC gnomAD
rs1265868699 CA388101570	131	R>K		No	ClinGen gnomAD
CA388101576 rs1489053175	132	D>H		No	ClinGen gnomAD
CA388101587 rs1193983864	133	Y>C		No	ClinGen TOPMed gnomAD
rs1193983864 CA388101586	133	Y>S		No	ClinGen TOPMed gnomAD
TCGA novel	133	Y>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770427240 CA6972198	134	L>F		No	ClinGen ExAC gnomAD
CA388101594 rs1260642729	134	L>S		No	ClinGen gnomAD
rs780621011 CA6972199	136	G>E		No	ClinGen ExAC gnomAD
rs1195295752 CA388101606	136	G>R		No	ClinGen TOPMed
rs745792706 CA6972200	138	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	143	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA249149992 rs373281254	144	I>V		No	ClinGen ESP gnomAD
CA249149993 rs1041604141	145	L>M		No	ClinGen TOPMed gnomAD
rs775527182 CA6972202	146	N>S		No	ClinGen ExAC gnomAD
rs1308672986 CA388101787	148	V>I		No	ClinGen TOPMed gnomAD
CA6972204 rs768584251	150	S>N		No	ClinGen ExAC gnomAD
CA6972205 rs773500342	153	Q>R		No	ClinGen ExAC gnomAD
CA6972206 rs761045385	154	H>Q		No	ClinGen ExAC gnomAD
CA388102025 rs1353907663	160	K>R		No	ClinGen gnomAD
rs753905944 CA6972208	161	Q>E		No	ClinGen ExAC gnomAD
CA6972209 rs79928919	161	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388102117 rs1259719911	165	V>M		No	ClinGen gnomAD
rs376780940 CA6972210	166	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1056968644 CA249150068	167	N>D		No	ClinGen TOPMed gnomAD
CA6972212 rs753218301	167	N>K		No	ClinGen ExAC gnomAD
CA388102155 rs1256324248	167	N>S		No	ClinGen TOPMed gnomAD
CA249150070 rs894183782	169	T>A		No	ClinGen TOPMed gnomAD
rs1566244315 CA388102250	173	H>D		No	ClinGen Ensembl
CA6972215 rs756904905	173	H>R		No	ClinGen ExAC gnomAD
CA249150078 rs1016062245	174	E>K		No	ClinGen TOPMed
TCGA novel	177	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388102407 rs1158123601 COSM1477238	182	E>G	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA6972232 rs764415409	184	S>A		No	ClinGen ExAC gnomAD
CA6972233 rs369920768	184	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767026011 CA6972235	185	E>K		No	ClinGen ExAC gnomAD
CA388102477 rs1458148615	187	V>L		No	ClinGen gnomAD
rs755511083 CA6972237	189	L>M		No	ClinGen ExAC gnomAD
rs779776053 CA6972238	190	A>G		No	ClinGen ExAC TOPMed gnomAD
CA388102514 rs1380980733	191	E>K		No	ClinGen TOPMed
CA6972239 rs749224670	193	I>V		No	ClinGen ExAC TOPMed gnomAD
CA6972240 rs755006164	196	K>Q		No	ClinGen ExAC gnomAD
rs747849824 CA6972243	201	N>K		No	ClinGen ExAC TOPMed gnomAD
CA6972244 rs776653139	202	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6972245 rs776653139	202	E>Q		No	ClinGen ExAC gnomAD
rs1409868229 CA388102709	204	E>G		No	ClinGen gnomAD
CA388102726 rs1168908086	205	T>I		No	ClinGen gnomAD
CA388102752 rs769753897	207	N>K		No	ClinGen ExAC gnomAD
CA388102764 rs1454837600	208	T>I		No	ClinGen TOPMed
CA6972263 rs758126812	209	K>E		No	ClinGen ExAC gnomAD
CA6972265 rs746059625	210	L>S		No	ClinGen ExAC gnomAD
rs1246681532 CA388102885	213	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA249151581 rs144395259	213	P>S		No	ClinGen ESP gnomAD
CA6972267 rs148783977	216	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1272187375 CA388102906	217	V>M		No	ClinGen gnomAD
rs768734030 CA6972269	218	N>S		No	ClinGen ExAC gnomAD
CA6972271 rs762448337	220	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1183473937 COSM947649 CA388102934	221	G>R	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA388102940 rs1441866949	222	F>I		No	ClinGen gnomAD
rs760978071 CA6972274	222	F>S		No	ClinGen ExAC gnomAD
rs766081527 CA6972275	224	P>R		No	ClinGen ExAC gnomAD
CA388102956 rs1385213962	224	P>S		No	ClinGen TOPMed gnomAD
CA388102966 rs1181943063 CA388102967	225	M>I		No	ClinGen TOPMed gnomAD
rs753559608 CA6972276	227	A>G		No	ClinGen ExAC gnomAD
CA6972277 rs573078047	228	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377758328 CA6972279	232	C>F		No	ClinGen ESP ExAC gnomAD
rs377758328 CA6972278	232	C>Y		No	ClinGen ESP ExAC gnomAD
rs758413948 COSM1941560 CA6972280	233	I>V	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs777404133 CA6972281	234	T>S		No	ClinGen ExAC gnomAD
rs1222334356 CA388103028	235	Y>C		No	ClinGen gnomAD
rs757062966 CA6972283	235	Y>H		No	ClinGen ExAC gnomAD
CA6972284 rs780189712	236	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1461787650 CA388103043	237	S>L		No	ClinGen gnomAD
CA388103050 rs749518203	239	H>N		No	ClinGen ExAC gnomAD
rs749518203 COSM551525 CA6972285	239	H>Y	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA249152498 rs767878227	241	N>D		No	ClinGen ExAC TOPMed gnomAD
rs767878227 CA6972298	241	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA388103409 rs1196923328	246	P>L		No	ClinGen gnomAD
rs764047274 CA6972299	247	I>L		No	ClinGen ExAC gnomAD
rs751468500 CA6972300	247	I>M		No	ClinGen ExAC TOPMed gnomAD
rs764047274 CA388103411	247	I>V		No	ClinGen ExAC gnomAD
TCGA novel	248	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388103486 rs1480599830	254	Q>H		No	ClinGen gnomAD
CA6972301 rs756981353	254	Q>K		No	ClinGen ExAC gnomAD
CA388103507 rs1287630013	256	L>P		No	ClinGen TOPMed
rs754047192 CA6972303	257	S>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	259	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6972304 rs775112692	261	H>R		No	ClinGen ExAC TOPMed gnomAD
rs778827131 CA6972305	262	L>V		No	ClinGen ExAC gnomAD
CA388103572 rs1389392149	263	M>L		No	ClinGen gnomAD
rs371748110 CA6972308	265	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs747584620 CA6972309	266	Y>C		No	ClinGen ExAC gnomAD
CA6972311 rs374570977	267	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA249152571 rs1001815267	270	T>I		No	ClinGen Ensembl
CA388103661 rs1342403848	271	L>P		No	ClinGen gnomAD
CA6972312 rs745482654	273	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1338025864 CA388103693	275	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6972313 rs769443843	275	T>R		No	ClinGen ExAC gnomAD
CA388103730 rs1338754736	278	L>F		No	ClinGen TOPMed
CA249152576 rs544173917	279	L>P		No	ClinGen TOPMed
rs61733771 CA6972332	282	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA6972331 rs369950935	282	D>G		No	ClinGen ESP ExAC gnomAD
rs1359806668 CA388104034	282	D>N		No	ClinGen gnomAD
rs369950935 CA388104050	282	D>V		No	ClinGen ESP ExAC gnomAD
rs746190896 CA388104058	283	P>A		No	ClinGen ExAC gnomAD
rs746190896 CA6972333	283	P>S		No	ClinGen ExAC gnomAD
COSM1188708 CA388104083 rs1486680100	284	S>L	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA388104101 COSM1188709 rs1260491989	285	S>F	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA388104205 rs1426627741	291	N>S		No	ClinGen TOPMed gnomAD
CA388104315 rs1443724407	299	K>R		No	ClinGen TOPMed gnomAD
CA388104323 rs1466658534	300	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA388104334 rs1161453002	300	F>L		No	ClinGen gnomAD
CA6972336 rs748962226	301	R>*		No	ClinGen ExAC gnomAD
CA388104345 rs1158258205	303	A>T		No	ClinGen Ensembl
CA388104351 rs1288340856	304	A>S		No	ClinGen gnomAD
CA6972337 rs551504033	305	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6972338 rs551504033	305	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388105096 rs1263285707	310	L>F		No	ClinGen gnomAD
CA388105097 rs1263285707	310	L>V		No	ClinGen gnomAD
rs147137656 CA6972357	311	I>T		No	ClinGen ESP ExAC gnomAD
rs1201740763 CA388105117	313	Q>E		No	ClinGen gnomAD
rs1240383224 CA388105141	315	E>G		No	ClinGen gnomAD
rs552995842 CA6972360	317	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1176425874 CA388105160	317	R>W		No	ClinGen gnomAD
rs760585621 CA6972361	319	E>G		No	ClinGen ExAC TOPMed gnomAD
rs994698736 CA249158362	319	E>K		No	ClinGen TOPMed gnomAD
rs1194994703 CA388105218	321	I>T		No	ClinGen gnomAD
CA388105221 rs1360129695	322	P>T		No	ClinGen TOPMed
rs776649514 CA6972380	331	I>M		No	ClinGen ExAC gnomAD
rs1168750765 CA388105348	331	I>T		No	ClinGen TOPMed gnomAD
rs974396451 CA249158815	332	H>Q		No	ClinGen TOPMed
CA6972381 rs759191300	333	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs769720361 CA6972382	334	C>R		No	ClinGen ExAC TOPMed gnomAD
CA388105419 rs1566251727	336	L>V		No	ClinGen Ensembl
CA388105433 rs1344731155	337	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA249158838 rs1029627805	339	R>Q		No	ClinGen TOPMed gnomAD
CA6972384 rs762186222	339	R>W		No	ClinGen ExAC gnomAD
CA249158843 rs537608449	341	L>F		No	ClinGen Ensembl
CA6972387 rs760841397	348	A>G		No	ClinGen ExAC TOPMed gnomAD
rs968314767 CA249158866	349	C>F		No	ClinGen TOPMed
rs766746956 CA6972388	349	C>S		No	ClinGen ExAC gnomAD
CA388105635 rs765646973	352	A>E		No	ClinGen ExAC gnomAD
CA6972390 rs755332035	352	A>S		No	ClinGen ExAC gnomAD
CA6972391 rs765646973	352	A>V		No	ClinGen ExAC gnomAD
rs980113518 CA249158919	353	E>Q		No	ClinGen TOPMed
rs1593701597 CA388105651	355	T>P		No	ClinGen Ensembl
CA249158924 rs191327511	356	S>I		No	ClinGen 1000Genomes gnomAD
rs781732442 CA249158941	359	N>S		No	ClinGen Ensembl
rs937530803 CA249158950	361	D>N		No	ClinGen gnomAD
rs752322970 CA6972392	365	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1387663685 CA388105727	365	L>W		No	ClinGen TOPMed gnomAD
rs1183342777 CA388105749	367	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6972407 rs776990693	367	R>H		No	ClinGen ExAC TOPMed gnomAD
CA388105750 rs776990693	367	R>P		No	ClinGen ExAC TOPMed gnomAD
rs760083310 CA6972408	370	C>W		No	ClinGen ExAC gnomAD
rs1159884736 CA388105777	371	A>G		No	ClinGen gnomAD
CA6972409 rs765553262	373	M>I		No	ClinGen ExAC gnomAD
rs1408283188 CA388105790	373	M>K		No	ClinGen gnomAD
rs144283332 CA6972410	374	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs144283332 CA249159526	374	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs758781534 CA6972411	375	H>D		No	ClinGen ExAC TOPMed gnomAD
rs560814065 CA6972412	375	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1593702532 CA388105822	378	Q>P		No	ClinGen Ensembl
CA388105831 rs1593702540	379	D>G		No	ClinGen Ensembl
CA6972413 rs751224880	381	H>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	382	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756721027 CA6972414	384	Y>C		No	ClinGen ExAC gnomAD
rs1338444219 CA388105865	384	Y>H		No	ClinGen gnomAD
CA388105877 rs1231335971	385	N>K		No	ClinGen TOPMed
TCGA novel	386	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6972415 rs780817540	391	P>S		No	ClinGen ExAC TOPMed
CA388105954 rs1280304827	396	D>G		No	ClinGen gnomAD
rs751162034 CA6972431	401	K>*		No	ClinGen ExAC gnomAD
rs761578108 CA6972433	402	L>P		No	ClinGen ExAC TOPMed gnomAD
CA6972434 rs766909249	403	C>Y		No	ClinGen ExAC gnomAD
rs151161679 CA6972435	404	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1157527115 CA388106043	408	D>H		No	ClinGen TOPMed
CA388106074 rs1593703899	412	P>L		No	ClinGen Ensembl
TCGA novel	413	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6972437 rs370244640	416	H>R		No	ClinGen ESP ExAC gnomAD
CA6972438 rs780082721	417	V>A		No	ClinGen ExAC gnomAD
TCGA novel	417	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6972439 rs753832614	418	I>S		No	ClinGen ExAC gnomAD
CA6972440 rs753832614	418	I>T		No	ClinGen ExAC gnomAD
TCGA novel	419	H>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1375859259 CA388106126	420	L>S		No	ClinGen gnomAD
rs771143492 CA388106138	422	T>P		No	ClinGen ExAC TOPMed
rs771143492 CA6972443	422	T>S		No	ClinGen ExAC TOPMed
CA6972444 rs781412515	423	L>R		No	ClinGen ExAC gnomAD
rs775968412 CA6972447	424	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1258921746 CA388106166	427	C>S		No	ClinGen TOPMed
TCGA novel	428	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1298199375 CA388106181	429	I>V		No	ClinGen gnomAD
TCGA novel	432	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388106216 rs2985959	433	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA249160565 rs17846239	434	V>L		No	ClinGen TOPMed gnomAD
rs17846239 CA249160558	434	V>M		No	ClinGen TOPMed gnomAD
TCGA novel	435	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388106268 rs1289052105	441	N>S		No	ClinGen TOPMed
TCGA novel	441	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6972452 rs767150179	442	N>D		No	ClinGen ExAC gnomAD
rs199771706 CA249166495	443	A>V		No	ClinGen 1000Genomes TOPMed gnomAD
CA249166497 rs1006733586	445	Q>*		No	ClinGen TOPMed gnomAD
TCGA novel	445	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760452344 CA6972482	447	G>R		No	ClinGen ExAC gnomAD
rs1238690195 CA388106353	448	A>T		No	ClinGen gnomAD
rs1463533251 CA388106373	451	A>T		No	ClinGen gnomAD
rs1185177448 CA388106408	454	K>M		No	ClinGen gnomAD
CA388106406 rs1185177448	454	K>R		No	ClinGen gnomAD
CA6972484 rs776239973	455	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA6972487 rs752579306	456	M>I		No	ClinGen ExAC gnomAD
rs765161212 CA6972486	456	M>K		No	ClinGen ExAC gnomAD
rs758988998 CA6972485	456	M>L		No	ClinGen ExAC TOPMed gnomAD
CA388106457 rs1277993127	458	E>V		No	ClinGen gnomAD
rs1158139137 CA388106493	461	Q>E		No	ClinGen gnomAD
rs1566254592 CA388106530	463	R>Q		No	ClinGen Ensembl
CA6972493 rs749342729	465	V>A		No	ClinGen ExAC gnomAD
CA6972492 COSM189152 rs756370605	465	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6972491 rs756370605	465	V>L		No	ClinGen ExAC TOPMed gnomAD
CA388106572 rs1394665208	467	R>*		No	ClinGen gnomAD
CA388106587 rs1407807053	468	T>S		No	ClinGen TOPMed
CA6972496 rs141105698	474	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs375306906 CA6972498	475	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs747407038 CA388106712	476	I>L		No	ClinGen ExAC TOPMed gnomAD
rs747407038 CA6972499	476	I>V		No	ClinGen ExAC TOPMed gnomAD
rs776157615 CA6972501	477	T>M		No	ClinGen ExAC TOPMed gnomAD
CA6972505 rs762850183	480	K>E		No	ClinGen ExAC gnomAD
CA6972506 rs146781317	482	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs751320205 CA249166617	483	P>A		No	ClinGen ExAC TOPMed gnomAD
CA388106804 rs1219540725	483	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA6972507 rs751320205 COSM1747457	483	P>S	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1464853057 CA388106896	489	P>L		No	ClinGen gnomAD
rs185737568 CA6972510	490	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs185737568 CA6972511	490	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1023851627 CA249166642	493	V>I		No	ClinGen Ensembl
CA6972513 rs748656437	494	M>I		No	ClinGen ExAC TOPMed gnomAD
rs759174902 CA6972512	494	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1440469453 CA388107001	495	M>I		No	ClinGen TOPMed
rs752174302 CA6972536	497	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA388108660 rs3014960	497	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA249172531 rs976968780	497	Q>L		No	ClinGen TOPMed gnomAD
CA388108654 rs976968780	497	Q>R		No	ClinGen TOPMed gnomAD
rs1593718626 CA388108681	499	A>T		No	ClinGen Ensembl
CA6972539 rs745506422	501	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1426216571 CA388108722	503	K>E		No	ClinGen gnomAD
rs370937289 CA6972540	504	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1290487714 CA388108756	507	K>R		No	ClinGen TOPMed gnomAD
rs1566258979 COSM696524 CA388108765	508	K>N	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs866479832 CA249172569	508	K>T		No	ClinGen TOPMed
CA249172570 rs200161384	509	V>L		No	ClinGen gnomAD
CA388108775 rs1434069875	510	P>S		No	ClinGen gnomAD
rs929715457 CA249172586	514	S>L		No	ClinGen Ensembl
CA388108809 rs1361819415	515	F>S		No	ClinGen gnomAD
rs1246934031 CA388108825	517	D>E		No	ClinGen gnomAD
rs748742578 CA388108827	518	V>F		No	ClinGen ExAC TOPMed gnomAD
rs748742578 CA6972543	518	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1319941634 CA388108833	519	H>Y		No	ClinGen gnomAD
CA249172609 rs529398293	523	G>E		No	ClinGen TOPMed
TCGA novel	524	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6972546 rs201937537	526	N>T		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA388108890 rs1245403046	527	S>G		No	ClinGen gnomAD
rs754472039 CA6972564	533	S>P		No	ClinGen ExAC gnomAD
CA6972565 rs778446049	534	T>R		No	ClinGen ExAC gnomAD
rs748048003 CA6972566	535	E>D		No	ClinGen ExAC gnomAD
rs188701760 CA6972568	536	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6972567 rs188701760 COSM947651	536	S>F	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs746715581 CA6972569	537	L>P		No	ClinGen ExAC gnomAD
rs770824865 CA6972570	538	N>S		No	ClinGen ExAC TOPMed gnomAD
CA6972571 rs775838900	539	P>L		No	ClinGen ExAC gnomAD
CA388109053 rs1444687570	541	P>R		No	ClinGen gnomAD
TCGA novel	542	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	542	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1349898808 CA388109068	543	T>I		No	ClinGen gnomAD
CA388109079 rs1397862058	545	I>S		No	ClinGen TOPMed gnomAD
CA6972572 rs763313378	545	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1230415332 CA388109085	546	S>F		No	ClinGen TOPMed
rs1200215137 CA388109118	551	H>P		No	ClinGen gnomAD
rs1200215137 CA388109117	551	H>R		No	ClinGen gnomAD
rs551149553 CA249177958	552	G>A		No	ClinGen gnomAD
CA249177965 rs551149553	552	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs761976834 CA6972575	555	Y>C		No	ClinGen ExAC gnomAD
CA388109155 rs1206119955	556	P>L		No	ClinGen gnomAD
rs767858192 CA6972576	557	T>A		No	ClinGen ExAC TOPMed gnomAD
CA6972577 rs750948239	557	T>M		No	ClinGen ExAC TOPMed gnomAD
CA388109164 rs1431334636	558	V>A		No	ClinGen gnomAD
CA388109183 rs1478343810	561	T>I		No	ClinGen gnomAD
rs1171748868 CA388109185	562	L>V		No	ClinGen gnomAD
rs1422754583 CA388109192	563	V>F		No	ClinGen gnomAD
CA6972580 rs554816331	564	C>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6972579 rs554816331	564	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754475563 CA6972581	565	L>F		No	ClinGen ExAC gnomAD
rs754475563 CA249177996	565	L>V		No	ClinGen ExAC gnomAD
rs747597956 CA6972583	567	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	569	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1431594571 CA388109227	569	Y>H		No	ClinGen TOPMed
rs1566263655 CA388109236	570	R>K		No	ClinGen Ensembl
CA388109244 rs1472565980	571	C>F		No	ClinGen TOPMed
CA6972585 rs376103781	572	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA388109255 rs1255036483	573	D>N		No	ClinGen TOPMed
CA6972601 rs569692811	574	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6972602 rs569692811	574	R>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	575	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388109283 rs1404221659	575	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	577	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757176364 CA6972604	586	S>F		No	ClinGen ExAC
rs1369273810 CA388109358	586	S>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs902748817 CA249179366	588	C>*		No	ClinGen Ensembl
rs1457466091 CA388109368	588	C>G		No	ClinGen gnomAD
CA6972605 rs552525063	589	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388109374 rs552525063	589	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM696523 CA6972607 rs769720212	592	L>F	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs745603445 CA6972606	592	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	593	L>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779277685 CA6972608	595	A>V		No	ClinGen ExAC TOPMed gnomAD
rs780921815 CA249179421	597	E>K		No	ClinGen Ensembl
rs1454932535	597	E>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA388109446 rs1340773323	600	S>T		No	ClinGen TOPMed gnomAD
CA6972611 rs773382833	601	K>R		No	ClinGen ExAC TOPMed gnomAD
CA6972612 rs760703070	603	K>Q		No	ClinGen ExAC
rs779948139 CA6972628	604	T>I		No	ClinGen ExAC TOPMed gnomAD
CA388109631 rs1362929842	605	Q>L		No	ClinGen TOPMed
CA6972630 rs772298471	608	G>V		No	ClinGen ExAC gnomAD
TCGA novel	613	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1256143592 CA388109709	613	I>V		No	ClinGen TOPMed gnomAD
CA388109728 rs1485251609	614	K>N		No	ClinGen TOPMed gnomAD
CA388109739 rs777881780	615	H>Q		No	ClinGen ExAC gnomAD
TCGA novel	618	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA249182937 rs150243603	619	L>V		No	ClinGen ESP TOPMed gnomAD
rs747042102 COSM32253 CA6972632 VAR_036454	620	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine breast a breast cancer sample; somatic mutation [NCI-TCGA, Cosmic, UniProt]	No	ClinGen cosmic curated UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs747042102 CA388109783	620	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6972633 rs138970265 COSM1367020	620	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1256409680 CA388109874	629	E>A		No	ClinGen gnomAD
CA388109882 rs1482823451	630	F>L		No	ClinGen gnomAD
CA388109903 rs1198904738	632	I>V		No	ClinGen gnomAD
rs1566267725 CA388109929	634	E>A		No	ClinGen Ensembl
CA388109987 rs1593739189	640	K>E		No	ClinGen Ensembl
rs770108352 CA6972636	643	R>G		No	ClinGen ExAC gnomAD
CA6972656 rs770283139	646	A>T		No	ClinGen ExAC gnomAD
rs1392340209 CA388110134	646	A>V		No	ClinGen TOPMed
rs1366891125 CA388110165	649	I>N		No	ClinGen gnomAD
CA388110200 rs1438432811	652	P>L		No	ClinGen gnomAD
rs749602385 CA6972658	653	M>I		No	ClinGen ExAC gnomAD
CA249184766 rs986623962	653	M>L		No	ClinGen gnomAD
rs1404854949 CA388110206	653	M>T		No	ClinGen TOPMed
rs986623962 CA388110204	653	M>V		No	ClinGen gnomAD
rs759439665 CA249184778	654	T>I		No	ClinGen Ensembl
TCGA novel	657	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	660	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770188992 CA249184785	661	L>P		No	ClinGen Ensembl
rs1222481582 CA388110299	662	N>S		No	ClinGen gnomAD
rs886792019 CA249184820	666	A>G		No	ClinGen TOPMed
CA6972660 rs774043875	666	A>P		No	ClinGen ExAC gnomAD
CA388110359 rs1190883520	667	L>F		No	ClinGen gnomAD
CA388110368 rs1470782159	668	I>M		No	ClinGen TOPMed
rs772810253 CA6972663	668	I>V		No	ClinGen ExAC gnomAD
CA249184858 rs775773279	669	E>Q		No	ClinGen Ensembl
TCGA novel	673	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388110479 rs1398479812	677	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1161216039 CA388110534	682	Y>C		No	ClinGen gnomAD
CA6972680 rs771802322	682	Y>H		No	ClinGen ExAC gnomAD
CA6972682 rs760256007	684	D>N		No	ClinGen ExAC gnomAD
rs147147472 CA388110580	688	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA249185039 rs1031784038	688	D>Y		No	ClinGen TOPMed
rs759431041 CA6972685	689	V>I		No	ClinGen ExAC TOPMed gnomAD
rs377042446 CA6972686	691	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs370174732 CA6972687	691	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA249185068 rs140318094	692	H>R		No	ClinGen ESP TOPMed
rs1489335242 CA388110600	692	H>Y		No	ClinGen gnomAD
rs762748459 CA6972688	693	L>Q		No	ClinGen ExAC gnomAD
rs767657915 CA6972689	695	S>L		No	ClinGen ExAC TOPMed gnomAD
rs756206164 CA6972691	697	C>S		No	ClinGen ExAC gnomAD
rs1443372017 CA388110639	698	E>G		No	ClinGen gnomAD
CA6972692 rs780046880	700	F>L		No	ClinGen ExAC gnomAD
CA6972693 rs754339741	704	Q>H		No	ClinGen ExAC gnomAD
rs779589226 CA388110704	707	L>P		No	ClinGen ExAC TOPMed gnomAD
CA6972695 rs779589226	707	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs902654422 CA249185114	709	V>I		No	ClinGen TOPMed gnomAD
TCGA novel	713	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772571455 CA6972697	715	F>L		No	ClinGen ExAC TOPMed gnomAD
CA388110761 rs1426961080	715	F>L		No	ClinGen gnomAD
rs1218332885 CA388110779	718	K>E		No	ClinGen Ensembl
CA388110817 rs142678425	721	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6972716 rs142678425	721	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747428314 CA6972718	724	T>A		No	ClinGen ExAC gnomAD
CA388110841 rs1230109054	725	M>T		No	ClinGen gnomAD
rs201742099 CA6972719	725	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1025642781 CA249189271	726	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	727	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388110859 rs1338108938	728	Q>E		No	ClinGen gnomAD
CA249189274 rs936194678	729	G>R		No	ClinGen Ensembl
rs745307881 CA6972721	732	K>R		No	ClinGen ExAC gnomAD
TCGA novel	733	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs144497765 CA6972722	739	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388110947 rs1250852624	741	A>T		No	ClinGen gnomAD
CA388110963 rs1456189024	743	P>A		No	ClinGen TOPMed
CA6972724 rs749275039	743	P>R		No	ClinGen ExAC gnomAD
TCGA novel	745	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755601358 CA6972742	746	V>A		No	ClinGen ExAC TOPMed gnomAD
CA388106958 rs2274285	747	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_055663 rs2274285 CA6972743	747	N>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA388106953 rs2274285	747	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368277556 CA6972744	750	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA6972745 rs368277556	750	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1489703297 CA388107021	751	A>T		No	ClinGen TOPMed
CA6972747 rs747833426	754	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA388107111 rs1593757696	757	I>K		No	ClinGen Ensembl
CA388107115 rs1315707833	758	K>Q		No	ClinGen TOPMed
CA6972748 rs142638224	759	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA6972749 rs776692137	762	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1330445503 CA388107174	763	V>M		No	ClinGen TOPMed
rs371539736 CA6972750	766	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA249146161 rs267603831	769	S>F		No	ClinGen Ensembl
CA388107328 rs1228758165	772	L>P		No	ClinGen gnomAD
CA388107359 rs1202329156	774	N>S		No	ClinGen TOPMed gnomAD
rs763138182 CA6972754	776	D>G		No	ClinGen ExAC gnomAD
rs763138182 CA6972753	776	D>V		No	ClinGen ExAC gnomAD
CA388107416 rs1330461463	777	T>N		No	ClinGen TOPMed
CA388107492 rs1169652477	781	L>F		No	ClinGen TOPMed
CA6972757 rs767976227	784	P>S		No	ClinGen ExAC TOPMed gnomAD
CA6972770 rs763119858	787	N>H		No	ClinGen ExAC gnomAD
CA6972771 rs376532847	789	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs774697322 CA6972772	790	Q>R		No	ClinGen ExAC gnomAD
CA249146728 rs990065757	791	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs150980454 CA6972774	792	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1593758941 CA388107837	794	Q>H		No	ClinGen Ensembl
TCGA novel	796	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs906134143 CA249146741	798	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel rs368099393 CA6972777	804	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC TOPMed gnomAD NCI-TCGA
rs1035372451 CA249146747	805	S>I		No	ClinGen TOPMed
rs765952388 CA6972778	805	S>R		No	ClinGen ExAC gnomAD
CA388107981 rs1277037116	806	P>L		No	ClinGen gnomAD
CA388108027 rs1239259522	809	I>F		No	ClinGen TOPMed gnomAD
CA388108022 rs1239259522	809	I>L		No	ClinGen TOPMed gnomAD
CA388108024 rs1239259522	809	I>V		No	ClinGen TOPMed gnomAD
rs371985919 CA6972780	812	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs895529849 CA249146766	812	I>V		No	ClinGen Ensembl
rs778522856 CA6972781	813	A>G		No	ClinGen ExAC gnomAD
CA388108126 rs1290342712	815	P>L		No	ClinGen TOPMed
CA6972782 rs752176778	817	M>V		No	ClinGen ExAC TOPMed gnomAD
rs758303104 CA6972783	818	E>A		No	ClinGen ExAC gnomAD
rs3014902 CA388108970	825	L>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2985989 CA388108971 CA388108972	825	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs386770600 CA249149619	825	L>S		No	ClinGen Ensembl
CA6972796 rs3014902	825	L>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs74854040 CA6972798	826	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA249149648 rs145841729	826	V>I		No	ClinGen Ensembl
rs764816930 CA388108981	827	S>C		No	ClinGen ExAC gnomAD
rs764816930 CA6972799	827	S>Y		No	ClinGen ExAC gnomAD
CA249149674 rs867802741	828	K>E		No	ClinGen Ensembl
rs752189542 CA6972800	829	K>K		No	ClinGen ExAC

No associated diseases with Q96JB2

No regional properties for Q96JB2

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q96JB2

Functions

		Description
EC Number
Subcellular Localization	Golgi apparatus, Golgi stack membrane ; Peripheral membrane protein	Associated with the peripheral membrane of cis/medial cisternae
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
cis-Golgi network	The network of interconnected tubular and cisternal structures located at the convex side of the Golgi apparatus, which abuts the endoplasmic reticulum.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
Golgi cisterna membrane	The lipid bilayer surrounding any of the thin, flattened compartments that form the central portion of the Golgi complex.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
Golgi transport complex	A multisubunit tethering complex of the CATCHR family (complexes associated with tethering containing helical rods) that has a role in tethering vesicles to the Golgi prior to fusion. Composed of 8 subunits COG1-8.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
trans-Golgi network membrane	The lipid bilayer surrounding any of the compartments that make up the trans-Golgi network.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

10 GO annotations of biological process

Name	Definition
endoplasmic reticulum to Golgi vesicle-mediated transport	The directed movement of substances from the endoplasmic reticulum (ER) to the Golgi, mediated by COP II vesicles. Small COP II coated vesicles form from the ER and then fuse directly with the cis-Golgi. Larger structures are transported along microtubules to the cis-Golgi.
glycosylation	The covalent attachment and further modification of carbohydrate residues to a substrate molecule.
Golgi organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the Golgi apparatus.
intra-Golgi vesicle-mediated transport	The directed movement of substances within the Golgi, mediated by small transport vesicles. These either fuse with the cis-Golgi or with each other to form the membrane stacks known as the cis-Golgi reticulum (network).
intracellular protein transport	The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell.
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.
protein localization to organelle	A process in which a protein is transported to, or maintained in, a location within an organelle.
protein stabilization	Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation.
retrograde transport, vesicle recycling within Golgi	The retrograde movement of substances within the Golgi, mediated by COP I vesicles. Cis-Golgi vesicles are constantly moving forward through the Golgi stack by cisternal progression, eventually becoming trans-Golgi vesicles. They then selectively transport membrane and luminal proteins from the trans- to the medial-Golgi while leaving others behind in the trans-Golgi cisternae; similarly, they selectively move proteins from the medial- to the cis-Golgi.
retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	The directed movement of substances from the Golgi back to the endoplasmic reticulum, mediated by vesicles bearing specific protein coats such as COPI or COG.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P40094	COG3	Conserved oligomeric Golgi complex subunit 3	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR

10	20	30	40	50	60
MAEAALLLLP	EAAAERDARE	KLALWDRRPD	TTAPLTDRQT	DSVLELKAAA	ENLPVPAELP
70	80	90	100	110	120
IEDLCSLTSQ	SLPIELTSVV	PESTEDILLK	GFTSLGMEEE	RIETAQQFFS	WFAKLQTQMD
130	140	150	160	170	180
QDEGTKYRQM	RDYLSGFQEQ	CDAILNDVNS	ALQHLESLQK	QYLFVSNKTG	TLHEACEQLL
190	200	210	220	230	240
KEQSELVDLA	ENIQQKLSYF	NELETINTKL	NSPTLSVNSD	GFIPMLAKLD	DCITYISSHP
250	260	270	280	290	300
NFKDYPIYLL	KFKQCLSKAL	HLMKTYTVNT	LQTLTSQLLK	RDPSSVPNAD	NAFTLFYVKF
310	320	330	340	350	360
RAAAPKVRTL	IEQIELRSEK	IPEYQQLLND	IHQCYLDQRE	LLLGPSIACT	VAELTSQNNR
370	380	390	400	410	420
DHCALVRSGC	AFMVHVCQDE	HQLYNEFFTK	PTSKLDELLE	KLCVSLYDVF	RPLIIHVIHL
430	440	450	460	470	480
ETLSELCGIL	KNEVLEDHVQ	NNAEQLGAFA	AGVKQMLEDV	QERLVYRTHI	YIQTDITGYK
490	500	510	520	530	540
PAPGDLAYPD	KLVMMEQIAQ	SLKDEQKKVP	SEASFSDVHL	EEGESNSLTK	SGSTESLNPR
550	560	570	580	590	600
PQTTISPADL	HGMWYPTVRR	TLVCLSKLYR	CIDRAVFQGL	SQEALSACIQ	SLLGASESIS
610	620	630	640	650	660
KNKTQIDGQL	FLIKHLLILR	EQIAPFHTEF	TIKEISLDLK	KTRDAAFKIL	NPMTVPRFFR
670	680	690	700	710	720
LNSNNALIEF	LLEGTPEIRE	HYLDSKKDVD	RHLKSACEQF	IQQQTKLFVE	QLEEFMTKVS
730	740	750	760	770	780
ALKTMASQGG	PKYTLSQQPW	AQPAKVNDLA	ATAYKTIKTK	LPVTLRSMSL	YLSNKDTEFI
790	800	810	820
LFKPVRNNIQ	QVFQKFHALL	KEEFSPEDIQ	IIACPSMEQL	SLLLLVSK