AiPD: Autoinhibited Protein Database

Q7Z6J4

Gene name	FGD2 (ZFYVE4)
Protein name	FYVE, RhoGEF and PH domain-containing protein 2
Names	Zinc finger FYVE domain-containing protein 4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:221472
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-141 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-141 (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 Q7Z6J4

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q7Z6J4-F1	Predicted				AlphaFoldDB

588 variants for Q7Z6J4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs907490276 CA137462271	3	G>R		No	ClinGen TOPMed
rs541913806 CA3782701	4	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA137462275 rs909931830	4	A>S		No	ClinGen TOPMed gnomAD
CA137462273 rs909931830	4	A>T		No	ClinGen TOPMed gnomAD
CA3782702 rs749414070	6	E>K		No	ClinGen ExAC gnomAD
CA137462281 rs1045118771	13	S>A		No	ClinGen Ensembl
rs748633270 CA3782705	14	N>S		No	ClinGen ExAC TOPMed gnomAD
CA3782706 rs761462484	15	L>V		No	ClinGen ExAC TOPMed gnomAD
CA363852830 rs1561922730	17	T>P		No	ClinGen Ensembl
CA3782710 rs776108370	20	E>D		No	ClinGen ExAC
rs1216672111 CA363852880	20	E>Q		No	ClinGen gnomAD
rs766060049 CA3782709	20	E>V		No	ClinGen ExAC gnomAD
rs759109126 CA3782711	22	S>N		No	ClinGen ExAC gnomAD
CA137463110 rs867596063	24	T>I		No	ClinGen Ensembl
CA3782731 rs774972187	25	P>L		No	ClinGen ExAC TOPMed gnomAD
rs762395833 CA3782732	28	A>V		No	ClinGen ExAC gnomAD
rs868321410 CA137463116	30	R>*		No	ClinGen Ensembl
rs764046611 CA3782733	31	G>A		No	ClinGen ExAC
rs831510 VAR_021491 CA3782735	32	Q>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA363853396 rs1443349102	35	E>K		No	ClinGen gnomAD
CA3782737 rs754153972	35	E>V		No	ClinGen ExAC gnomAD
RCV000961713 CA3782739 rs34617818 CA3782738	36	D>E		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3782741 rs752828413	37	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3782740 rs752828413	37	V>M		No	ClinGen ExAC TOPMed gnomAD
CA3782742 rs73730511	38	H>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs73730511 CA3782743 RCV000966997	38	H>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3782744 rs771370154	39	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1276019497 CA363853423	39	H>R		No	ClinGen TOPMed
COSM1252384 rs745594755 CA3782746	40	R>C	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs138995094 CA3782748	40	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA3782747 rs138995094	40	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1234585956 CA363853448	43	C>*		No	ClinGen gnomAD
rs565025526 CA3782749	43	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA3782750 rs768128636	44	R>W		No	ClinGen ExAC gnomAD
COSM451372 CA3782754 rs750198030	47	E>K	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA363853497 rs1418324778	51	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs142160745 CA3782756	52	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs369212622 CA363853499	52	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3782757 rs369212622	52	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs142160745 COSM1078592 CA3782755	52	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA363853503 rs763351869	53	E>*		No	ClinGen TOPMed gnomAD
CA363853501 rs763351869	53	E>K		No	ClinGen TOPMed gnomAD
CA363853513 rs1452569631	54	K>R		No	ClinGen gnomAD
TCGA novel	55	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs146354673 CA3782758	55	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA3782761 rs757695362	57	V>D		No	ClinGen ExAC gnomAD
CA363853531 rs138397340	57	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3782760 rs138397340	57	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA137463158 rs778842453	58	G>A		No	ClinGen TOPMed
CA3782764 rs151265686	58	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs569865241 CA3782766	61	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs114619383 CA3782765 RCV000946941	61	V>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1037717034 CA137463167	62	G>E		No	ClinGen TOPMed
CA363853562 rs1583291038	63	S>A		No	ClinGen Ensembl
CA3782768 rs773719328	66	R>S		No	ClinGen ExAC gnomAD
CA363853588 rs1427669214	67	T>A		No	ClinGen gnomAD
rs747634602 CA3782769	67	T>K		No	ClinGen ExAC gnomAD
CA3782771 rs140572234	69	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3782770 rs140572234	69	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA363853628 rs1317717127	72	Y>D		No	ClinGen gnomAD
rs1317717127 CA363853627	72	Y>H		No	ClinGen gnomAD
rs572645440 CA3782774	75	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs572645440 CA363853706	75	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs190281300 CA3782775	77	K>Q		No	ClinGen 1000Genomes ExAC
rs764295457 CA3782776	78	N>S		No	ClinGen ExAC gnomAD
CA363853765 rs1222652871	79	K>Q		No	ClinGen gnomAD
CA363853789 rs1445786441	80	L>R		No	ClinGen TOPMed
CA3782778 rs373540712	82	S>G		No	ClinGen ESP ExAC gnomAD
rs750902984 CA3782780	83	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs756507480 CA3782781	84	A>V		No	ClinGen ExAC gnomAD
CA363853846 rs1174630134	85	W>S		No	ClinGen TOPMed
CA3782782 rs202027789	86	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1184097719 CA363853958	91	P>S		No	ClinGen TOPMed
CA3782784 rs754636366	93	T>N		No	ClinGen ExAC gnomAD
CA3782785 rs778559752	94	L>F		No	ClinGen ExAC gnomAD
CA3782786 rs747641806	97	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs746920455 CA3782789	99	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1385790419 CA363854073	99	T>S		No	ClinGen gnomAD
rs1365176497 CA363854096	100	Q>R		No	ClinGen gnomAD
rs765613237 CA3782819	101	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1346347817 CA363854557	102	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	103	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363854596 rs1167098675	104	K>E		No	ClinGen gnomAD
rs147833566 CA3782820	104	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA137463723 rs367720858	106	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs777498400 CA3782822	107	V>I		No	ClinGen ExAC TOPMed gnomAD
CA363854731 rs1452689400	110	L>V		No	ClinGen gnomAD
CA363854821 rs1561927144	115	Q>L		No	ClinGen Ensembl
rs1199425221 CA363854831	116	A>T		No	ClinGen TOPMed
rs371671447 CA363854893	119	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1252270472 CA363854886	119	A>T		No	ClinGen gnomAD
CA3782826 rs371671447 COSM451373	119	A>V	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs779897171 CA3782828	120	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs752975152 CA3782829	120	R>H		No	ClinGen ExAC TOPMed gnomAD
CA363854926 rs1259990951	121	L>H		No	ClinGen gnomAD
rs1259990951 CA363854928	121	L>P		No	ClinGen gnomAD
CA3782830 rs772297282	122	H>R		No	ClinGen ExAC gnomAD
rs760776321 CA3782832	124	L>P		No	ClinGen ExAC gnomAD
rs1034623002 CA137463747	125	D>N		No	ClinGen TOPMed gnomAD
rs1466953763 CA363855000	126	Q>*		No	ClinGen TOPMed gnomAD
rs1466953763 CA363855005	126	Q>E		No	ClinGen TOPMed gnomAD
CA3782871 rs769719224	127	V>G		No	ClinGen ExAC gnomAD
CA3782872 rs776101650	128	F>V		No	ClinGen ExAC gnomAD
CA363855198 rs1583296458	131	E>Q		No	ClinGen Ensembl
rs1315517186 CA363855241	133	L>Q		No	ClinGen TOPMed
CA363855246 rs1315517186	133	L>R		No	ClinGen TOPMed
rs774863742 CA3782875	136	A>V		No	ClinGen ExAC gnomAD
CA3782877 rs371219616	137	R>C		No	ClinGen ExAC TOPMed gnomAD
rs772703341 COSM294373 CA3782878	137	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs772703341 CA363855308	137	R>L		No	ClinGen ExAC TOPMed gnomAD
rs371219616 CA3782876	137	R>S		No	ClinGen ExAC TOPMed gnomAD
CA3782880 rs765785664	139	S>G		No	ClinGen ExAC TOPMed gnomAD
COSM1207019 CA363855344 rs1561927992	139	S>N	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs753872580 CA3782881	140	K>Q		No	ClinGen ExAC gnomAD
rs754904015 CA3782882	143	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1381616908 CA363855421	144	E>K		No	ClinGen gnomAD
CA363855443 rs1306651900	145	D>E		No	ClinGen gnomAD
CA3782884 rs752500567	145	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs200637703 CA3782885	145	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752500567 CA363855430	145	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA3782887 rs750575851	147	V>A		No	ClinGen ExAC TOPMed gnomAD
CA3782886 rs781506068	147	V>I		No	ClinGen ExAC gnomAD
CA137463980 rs866211898	148	R>K		No	ClinGen Ensembl
CA3782889 rs779997550	148	R>S		No	ClinGen ExAC gnomAD
CA3782890 rs749318658	152	S>C		No	ClinGen ExAC TOPMed gnomAD
CA3782891 rs769302104	154	I>N		No	ClinGen ExAC gnomAD
rs1427817192 CA363855594	154	I>V		No	ClinGen TOPMed
CA3782892 rs779517528	155	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1419289762 CA363855620	156	S>C		No	ClinGen gnomAD
rs1446080212 CA363855623	157	I>L		No	ClinGen TOPMed gnomAD
rs1446080212 CA363855624	157	I>V		No	ClinGen TOPMed gnomAD
CA3782894 rs772295712	158	Y>C		No	ClinGen ExAC
rs772967215 CA3782896	159	Q>H		No	ClinGen ExAC gnomAD
rs770540521 CA3782897	160	F>I		No	ClinGen ExAC gnomAD
rs1469418019 CA363855646	160	F>S		No	ClinGen gnomAD
CA3782899 rs758987675	161	H>N		No	ClinGen ExAC gnomAD
rs901013366 CA363855669	163	Q>H		No	ClinGen gnomAD
rs199827786 CA137464009	163	Q>L		No	ClinGen 1000Genomes
CA3782900 rs765180579	169	L>M		No	ClinGen ExAC gnomAD
CA3782902 rs142895649	171	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs752588458 CA3782901	171	R>W		No	ClinGen ExAC TOPMed gnomAD
rs763769959 CA3782903 COSM3430587	172	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs750711356 COSM186839 CA3782904	172	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs780269753 CA3782906	175	D>N		No	ClinGen ExAC TOPMed gnomAD
CA363856331 rs1324194188	179	N>S		No	ClinGen gnomAD
rs755462020 CA3782926	180	P>A		No	ClinGen ExAC gnomAD
CA3782927 rs755462020	180	P>S		No	ClinGen ExAC gnomAD
CA3782928 rs151050710	181	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs75714191 CA3782929	181	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	181	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363856378 rs140941536	182	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs747353597 CA3782931	183	G>S		No	ClinGen ExAC TOPMed gnomAD
rs757600051 CA3782933	184	D>N		No	ClinGen ExAC
CA3782936 rs769347475	185	V>A		No	ClinGen ExAC
rs745495278 CA3782935	185	V>M		No	ClinGen ExAC TOPMed gnomAD
rs774972648 CA3782937	189	L>M		No	ClinGen ExAC gnomAD
rs1372230196 CA363856455	190	A>V		No	ClinGen TOPMed
CA137469555 rs756511136	194	K>N		No	ClinGen Ensembl
rs761556224 CA3782941	196	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1349313769 CA363856507	198	E>*		No	ClinGen TOPMed
CA3782943 rs777052919	200	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA363856548 rs1171224213	202	N>T		No	ClinGen TOPMed
rs759833280 CA3782944	203	F>S		No	ClinGen ExAC TOPMed gnomAD
rs765489413 CA3782945	204	E>G		No	ClinGen ExAC gnomAD
CA3782946 rs376313840	205	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs758454934 CA363856583	205	R>L		No	ClinGen ExAC TOPMed gnomAD
CA3782947 rs758454934	205	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3782950 rs757664055	207	A>P		No	ClinGen ExAC gnomAD
CA3782951 rs781520968	209	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA363856643 rs1339506336	211	A>V		No	ClinGen gnomAD
rs373155633 CA137469597	215	D>E		No	ClinGen Ensembl
rs370600369 CA3782954	215	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA137469594 rs370600369	215	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1305308414 CA363856719	219	L>P		No	ClinGen TOPMed
CA137469621 rs902572700	220	F>L		No	ClinGen Ensembl
rs903970284 CA137469618	220	F>V		No	ClinGen TOPMed
CA137469626 rs374009275	221	Q>*		No	ClinGen ESP TOPMed gnomAD
rs774205833 CA3782957	222	E>G		No	ClinGen ExAC TOPMed gnomAD
rs768184742 CA3782956	222	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1232651115 CA363856768	223	V>F		No	ClinGen TOPMed
rs1424625962 CA363856779	224	L>F		No	ClinGen gnomAD
rs748104706 CA3782958	226	R>C		No	ClinGen ExAC TOPMed gnomAD
rs748104706 CA3782959	226	R>G		No	ClinGen ExAC TOPMed gnomAD
rs367888863 CA3782960 COSM186845	226	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA3782962 rs140731698	227	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA363856832 rs1466795252	228	Q>H		No	ClinGen gnomAD
rs199957582 CA363856828	228	Q>P		No	ClinGen 1000Genomes gnomAD
CA137469656 rs199957582	228	Q>R		No	ClinGen 1000Genomes gnomAD
CA137469825 rs999397386	229	S>G		No	ClinGen TOPMed
CA3782986 rs761835247	230	S>N		No	ClinGen ExAC gnomAD
TCGA novel	231	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145883518 CA3782988	231	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372311354 CA3782990	233	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA363856961 rs1433333415	234	G>D		No	ClinGen TOPMed gnomAD
rs754666163 CA3782992	234	G>R		No	ClinGen ExAC gnomAD
CA137469853 rs201108665	237	T>A		No	ClinGen 1000Genomes
rs778373251 CA3782993	237	T>N		No	ClinGen ExAC
rs1361495201 CA363857017	239	Q>P		No	ClinGen gnomAD
rs1418734698 CA363857027	240	H>Y		No	ClinGen gnomAD
rs143497870 CA137469861	241	H>P		No	ClinGen ESP TOPMed gnomAD
rs867353455 CA137469863	242	M>V		No	ClinGen Ensembl
CA363857075 rs1403464161	243	L>V		No	ClinGen gnomAD
rs777897004 CA3782996	246	V>L		No	ClinGen ExAC gnomAD
rs1388968268 CA363857135	247	Q>*		No	ClinGen gnomAD
CA3782997 rs144341931	250	P>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs760324468 CA137469884	251	R>C		No	ClinGen TOPMed gnomAD
rs763695122 CA3782998	251	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs201200599 CA3783000	253	E>K		No	ClinGen ExAC TOPMed gnomAD
rs768933065 CA3783002	256	L>F		No	ClinGen ExAC gnomAD
CA3783003 rs542454301	257	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA3783005 rs184929659	258	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1188644578 CA363857349	258	E>K		No	ClinGen TOPMed
CA3783004 rs748270405	258	E>V		No	ClinGen ExAC gnomAD
rs1438503758 CA363857389	260	I>L		No	ClinGen gnomAD
rs1438503758 CA363857391	260	I>V		No	ClinGen gnomAD
CA3783006 rs773769622	261	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	262	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3783007 rs200159183	262	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3783008 rs766728677	265	A>V		No	ClinGen ExAC gnomAD
rs777069436 CA3783011	266	Q>L		No	ClinGen ExAC gnomAD
rs1379696554 CA363857527	269	D>H		No	ClinGen Ensembl
rs202181515 CA137469953	270	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202181515 CA3783013	270	Q>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1296917307 CA363857547	270	Q>P		No	ClinGen TOPMed gnomAD
CA3783016 rs763683329	272	D>N		No	ClinGen ExAC gnomAD
CA3783017 rs764649862	274	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA3783039 rs199640627	279	M>I		No	ClinGen ExAC TOPMed gnomAD
CA3783038 rs750308518	279	M>T		No	ClinGen ExAC gnomAD
rs767534132 CA3783037	279	M>V		No	ClinGen ExAC gnomAD
CA363857854 rs1344690623	280	I>F		No	ClinGen TOPMed
rs1484477059 CA363857917	282	S>L		No	ClinGen gnomAD
rs1372343439 CA363858003	286	H>P		No	ClinGen TOPMed
rs1372343439 CA363858005	286	H>R		No	ClinGen TOPMed
CA3783042 rs758634015	288	N>D		No	ClinGen ExAC gnomAD
rs777924662 CA363858052	288	N>I		No	ClinGen ExAC TOPMed gnomAD
CA3783043 rs777924662	288	N>S		No	ClinGen ExAC TOPMed gnomAD
rs747146242 CA3783044	289	A>T		No	ClinGen ExAC gnomAD
CA3783045 rs770883477	290	A>T		No	ClinGen ExAC gnomAD
CA363858117 rs1361105934	291	I>V		No	ClinGen gnomAD
CA3783046 rs147148066	293	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1398315477 CA363858161	293	E>Q		No	ClinGen gnomAD
rs554359469 CA137470310	294	M>K		No	ClinGen ExAC TOPMed gnomAD
CA3783047 rs554359469	294	M>T		No	ClinGen ExAC TOPMed gnomAD
CA363858177 rs1339545796	294	M>V		No	ClinGen gnomAD
rs201398945 CA363858274	296	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3783072 rs201398945	296	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1288079879 CA363858272	296	R>W		No	ClinGen gnomAD
rs556232556 CA3783075	299	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs772611764 CA3783074	299	D>N		No	ClinGen ExAC gnomAD
rs753745690 CA363858361	302	E>D		No	ClinGen ExAC TOPMed gnomAD
rs759374023 CA3783078	303	V>G		No	ClinGen ExAC gnomAD
CA363858363 rs1396194134	303	V>M		No	ClinGen gnomAD
rs1388248499 CA363858376	304	Y>H		No	ClinGen gnomAD
rs1362721531 CA363858395	305	Q>*		No	ClinGen TOPMed gnomAD
rs79274660 CA3783080	305	Q>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377492771 CA3783081	306	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs377492771 CA3783083	306	R>G		No	ClinGen ESP ExAC gnomAD
CA3783084 rs756219700	306	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs377492771 CA3783082	306	R>S		No	ClinGen ESP ExAC gnomAD
CA363858420 rs1377186029	307	L>P		No	ClinGen gnomAD
CA363858422 rs1377186029	307	L>R		No	ClinGen gnomAD
CA3783085 rs780743333	308	G>D		No	ClinGen ExAC gnomAD
rs140282952 CA3783087	311	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs374743887 CA3783089	312	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs771645939 CA3783090	313	I>L		No	ClinGen ExAC gnomAD
TCGA novel	313	I>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1198086759 CA363858508	313	I>T		No	ClinGen TOPMed gnomAD
rs772882424 CA3783091	314	V>A		No	ClinGen ExAC gnomAD
CA137470631 rs950617115	315	D>G		No	ClinGen TOPMed gnomAD
CA363858526 rs746564018	315	D>N		No	ClinGen ExAC gnomAD
CA3783092 rs746564018	315	D>Y		No	ClinGen ExAC gnomAD
rs142937832 CA3783094	316	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs770404500 CA3783093	316	P>S		No	ClinGen ExAC gnomAD
rs1419929674 CA363858590	319	T>I		No	ClinGen gnomAD
rs571990509 CA137470644	322	R>C		No	ClinGen 1000Genomes TOPMed gnomAD
rs183698723 CA3783098	322	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs183698723 CA363858629	322	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs183698723 CA137470652	322	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA363858638 rs1214149381	323	E>G		No	ClinGen Ensembl
rs750625732 CA3783100	324	G>D		No	ClinGen ExAC gnomAD
rs766565997 CA3783102	325	P>L		No	ClinGen ExAC gnomAD
rs766565997 CA3783103	325	P>R		No	ClinGen ExAC gnomAD
TCGA novel	326	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1448025565 CA363859295	329	I>T		No	ClinGen TOPMed gnomAD
rs758759895 CA3783107	330	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA363859313 rs1258829859	332	R>C		No	ClinGen gnomAD
rs777342221 CA3783108	332	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA363859311 rs1258829859	332	R>S		No	ClinGen gnomAD
CA3783109 COSM239864 rs746649633	333	R>C	Variant assessed as Somatic; 0.0 impact. prostate breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs147265209 CA3783110	333	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA3783112 rs745324102 COSM1078609	335	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	335	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363859335 rs1583304276	336	P>T		No	ClinGen Ensembl
CA363859347 rs1169826625	337	M>I		No	ClinGen gnomAD
CA3783113 rs769637078	339	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs775453947 CA3783114	339	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs775453947 CA363859360	339	R>P		No	ClinGen ExAC TOPMed gnomAD
CA137470726 rs371611799	341	L>V		No	ClinGen ESP TOPMed
CA137470754 rs563795781	342	F>S		No	ClinGen 1000Genomes
CA3783117 rs773638996	343	L>S		No	ClinGen ExAC TOPMed gnomAD
rs763519054 CA3783142	347	M>I		No	ClinGen ExAC gnomAD
rs1159638123 CA363859427	347	M>K		No	ClinGen gnomAD
CA3783143 rs190242790	348	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1293427762 CA363859436	349	L>I		No	ClinGen gnomAD
CA363859451 rs1443185180	351	C>R		No	ClinGen gnomAD
rs1443185180 CA363859450	351	C>S		No	ClinGen gnomAD
rs1307436754 CA363859466	353	P>T		No	ClinGen gnomAD
rs139149403 CA3783145	358	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA363859503 rs1307471972	359	G>S		No	ClinGen gnomAD
TCGA novel	360	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3783146 rs373556084	360	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1468585508 CA363859516	361	Q>*		No	ClinGen gnomAD
CA363859517 rs1281408270	361	Q>P		No	ClinGen TOPMed
CA363859549 rs1177382519	365	R>S		No	ClinGen TOPMed gnomAD
rs1410668000 CA363859557	367	R>C		No	ClinGen gnomAD
rs1422414787 CA363859562	367	R>H		No	ClinGen TOPMed gnomAD
rs1422414787 CA363859561	367	R>L		No	ClinGen TOPMed gnomAD
CA363859575 rs1448547534	369	D>E		No	ClinGen TOPMed
COSM3830377 rs779622760 CA3783149	369	D>N	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA363859582 rs1349047025	370	V>G		No	ClinGen gnomAD
rs1300092525 CA363859591	372	G>E		No	ClinGen gnomAD
CA3783151 rs768665091	372	G>R		No	ClinGen ExAC TOPMed gnomAD
rs778958713 CA3783152	373	M>I		No	ClinGen ExAC TOPMed gnomAD
CA363859596 rs1226395888	373	M>L		No	ClinGen TOPMed gnomAD
CA363859595 rs1226395888	373	M>V		No	ClinGen TOPMed gnomAD
CA3783166 rs765902273	375	V>G		No	ClinGen ExAC gnomAD
CA363860393 rs368683361	375	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs368683361 CA3783165	375	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs754510582 CA3783168	376	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3783167 rs753419995	376	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1344542441 CA363860417	379	M>T		No	ClinGen gnomAD
rs1285432556 CA363860433	381	A>D		No	ClinGen gnomAD
TCGA novel	382	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779046545 CA3783170	384	P>R		No	ClinGen ExAC gnomAD
rs1218322093 CA363860461	385	H>R		No	ClinGen gnomAD
CA363860459 rs1364829419	385	H>Y		No	ClinGen gnomAD
CA137474313 rs375261795	386	S>C		No	ClinGen ESP gnomAD
CA3783172 rs145257454	387	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA363860473 rs1368704183	387	F>Y		No	ClinGen TOPMed
rs777712865 CA3783173	389	V>A		No	ClinGen ExAC gnomAD
rs770074264 CA3783176	391	G>R		No	ClinGen ExAC TOPMed gnomAD
CA363860494 rs770074264	391	G>W		No	ClinGen ExAC TOPMed gnomAD
rs775530130 CA3783177	392	K>M		No	ClinGen ExAC
rs1040255077 CA137474374	394	R>C		No	ClinGen TOPMed gnomAD
rs749426264 CA3783178	394	R>H		No	ClinGen ExAC TOPMed gnomAD
rs982226660 CA137474402	395	T>A		No	ClinGen gnomAD
CA3783179 rs768699381	399	Q>H		No	ClinGen ExAC gnomAD
CA137474415 rs1030629765	399	Q>R		No	ClinGen Ensembl
CA3783180 rs774894854	400	A>G		No	ClinGen ExAC TOPMed gnomAD
CA3783181 rs762301573	401	R>G		No	ClinGen ExAC TOPMed gnomAD
rs767956722 CA3783182	401	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs762301573 CA363860551	401	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	404	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	406	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1395982670 CA363860604	406	M>I		No	ClinGen gnomAD
CA363860610 rs1166915196	407	I>T		No	ClinGen gnomAD
CA363860625 rs1327736110	409	W>*		No	ClinGen gnomAD
rs746847649 CA3783193	411	Q>*		No	ClinGen ExAC gnomAD
CA3783194 rs756970544	411	Q>R		No	ClinGen ExAC gnomAD
rs779069376 CA3783218	412	A>D		No	ClinGen ExAC gnomAD
CA363860656 rs755217529	412	A>P		No	ClinGen ExAC gnomAD
CA3783217 rs755217529	412	A>T		No	ClinGen ExAC gnomAD
CA363860672 rs1228291554	414	Q>R		No	ClinGen TOPMed
CA363860676 rs1170413078	415	A>T		No	ClinGen gnomAD
rs748268501 CA3783219	416	A>D		No	ClinGen ExAC gnomAD
CA3783220 rs772023794	417	I>T		No	ClinGen ExAC gnomAD
rs1035614176 CA137475675	417	I>V		No	ClinGen TOPMed gnomAD
CA3783221 rs143671027	418	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA363860696 rs1359198596	418	D>G		No	ClinGen gnomAD
rs1561939314 CA363860699	419	Q>*		No	ClinGen Ensembl
CA3783222 rs747470018	421	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA363860723 rs1358717644	422	K>*		No	ClinGen TOPMed
CA137475766 rs1043518925	422	K>T		No	ClinGen gnomAD
CA363860730 rs1302935876	423	R>L		No	ClinGen TOPMed gnomAD
rs1302935876 CA363860729	423	R>Q		No	ClinGen TOPMed gnomAD
CA3783223 rs753112675	423	R>W		No	ClinGen ExAC gnomAD
CA137475790 rs368966699	426	T>I		No	ClinGen ESP TOPMed
CA363860778 rs374091470	430	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA363860775 rs1386159641	430	A>T		No	ClinGen TOPMed
rs374091470 CA3783224	430	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs747227398 CA137475842	432	Q>*		No	ClinGen gnomAD
rs1561939378 CA363860797	433	G>E		No	ClinGen Ensembl
CA3783226 rs769598548	433	G>R		No	ClinGen ExAC gnomAD
rs1261868379 CA363860812	436	G>R		No	ClinGen gnomAD
CA363860817 rs1429756112	436	G>V		No	ClinGen gnomAD
rs1196381025 CA363860828	438	I>F		No	ClinGen gnomAD
CA363860845 rs1394101139	440	E>G		No	ClinGen gnomAD
rs375715265 CA137475860	441	Q>*		No	ClinGen ESP TOPMed gnomAD
rs375715265 CA363860850	441	Q>E		No	ClinGen ESP TOPMed gnomAD
rs78182287 CA3783252 CA3783253 RCV000948733	447	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP
rs1187825701 CA363860903	447	E>K		No	ClinGen gnomAD
rs964505006 CA137476368	450	L>H		No	ClinGen Ensembl
rs751618373 CA3783256	451	R>Q		No	ClinGen ExAC gnomAD
rs764326106 CA3783255	451	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA363860928 rs1298559092	452	A>T		No	ClinGen TOPMed gnomAD
CA3783258 rs781775800	453	P>L		No	ClinGen ExAC TOPMed gnomAD
rs756612292 CA3783260	454	Q>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs756612292 CA363860943	454	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs867111384 CA137476445	457	R>Q		No	ClinGen TOPMed gnomAD
rs780569281 CA3783261	457	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3783263 rs768226157	463	M>I		No	ClinGen ExAC gnomAD
CA363861013 rs774025462	464	C>F		No	ClinGen ExAC TOPMed gnomAD
rs774025462 CA3783264	464	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs879141285 CA137476476	465	M>T		No	ClinGen Ensembl
CA3783266 rs569019697	466	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs575499635 CA3783268	466	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA3783267 rs569019697	466	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1583320077 CA363861055	470	P>R		No	ClinGen Ensembl
rs766249153 CA3783269	471	F>L		No	ClinGen ExAC TOPMed gnomAD
CA363861073 rs1433961646	473	A>T		No	ClinGen TOPMed
CA363861077 rs1286354382	473	A>V		No	ClinGen gnomAD
rs759332299 CA3783271	475	T>M		No	ClinGen ExAC TOPMed gnomAD
CA363861089 COSM1078617 rs1172770308	476	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs751779194 CA3783273	476	R>H		No	ClinGen ExAC gnomAD
rs757335325 CA3783274	477	R>C		No	ClinGen ExAC gnomAD
rs562898528 CA3783275	477	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3783276 rs377585981	478	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs145920571 CA3783277 COSM1207020	478	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1583320175 CA363861104	479	H>P		No	ClinGen Ensembl
CA137476573 rs1047380124	482	R>P		No	ClinGen gnomAD
rs1047380124 CA363861126	482	R>Q		No	ClinGen gnomAD
CA3783278 rs780657307	482	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs749655959 CA3783279	484	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs909173093 CA137476583	485	G>S		No	ClinGen gnomAD
rs767022309 CA3783281	486	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs1401164812 CA363861169	488	V>M		No	ClinGen gnomAD
rs75108162 CA363861210	494	D>H		No	ClinGen 1000Genomes ExAC gnomAD
rs75108162 CA3783307	494	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA363861225 rs745809338	496	R>G		No	ClinGen ExAC TOPMed gnomAD
rs769551030 CA3783309	496	R>Q		No	ClinGen ExAC gnomAD
rs745809338 CA363861226	496	R>W		No	ClinGen ExAC TOPMed gnomAD
rs762784794 COSM596474 CA3783311	498	E>K	lung Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1404013627 CA363861243	499	L>V		No	ClinGen TOPMed
CA3783314 rs151103262 COSM239865	502	D>N	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs150236008 CA3783316	503	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs760106286 CA3783317	504	N>S		No	ClinGen ExAC gnomAD
CA3783318 rs765617865	505	R>K		No	ClinGen ExAC gnomAD
COSM342543 CA3783319 rs753093651	507	N>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1470491185 CA363861304	508	R>*		No	ClinGen gnomAD
CA3783320 rs137992835	508	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs777447846 CA3783321	509	V>L		No	ClinGen ExAC gnomAD
rs1164920540 CA363861338	513	C>S		No	ClinGen gnomAD
rs751195612 CA3783322	514	Y>C		No	ClinGen ExAC
rs1336695000 CA363861351	515	A>E		No	ClinGen gnomAD
CA3783324 rs780756676	515	A>T		No	ClinGen ExAC TOPMed gnomAD
CA137479539 rs970366293	516	F>L		No	ClinGen TOPMed
rs1561942853 CA363861366	517	L>R		No	ClinGen Ensembl
rs769790531 CA363861368	518	T>A		No	ClinGen ExAC gnomAD
CA3783326 rs769790531	518	T>S		No	ClinGen ExAC gnomAD
TCGA novel	519	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3783328 rs373975046	522	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1346996300 CA363861398	523	P>S		No	ClinGen TOPMed
rs773635309 CA3783330	524	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	525	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363861428 rs1207286167	527	E>D		No	ClinGen TOPMed gnomAD
CA3783331 rs747239480	527	E>K		No	ClinGen ExAC gnomAD
CA3783332 rs771004067	530	R>K		No	ClinGen ExAC gnomAD
rs765815919 CA3783335	531	R>Q		No	ClinGen ExAC gnomAD
rs759496445 CA3783334	531	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1474245231 CA363861456	532	G>R		No	ClinGen gnomAD
CA3783336 rs775950185	533	I>V		No	ClinGen ExAC gnomAD
rs1397732595 CA363861469	534	L>P		No	ClinGen gnomAD
CA3783369 rs781530786	536	K>Q		No	ClinGen ExAC gnomAD
rs746069675 CA3783371	537	G>E		No	ClinGen ExAC TOPMed gnomAD
rs746069675 CA3783370	537	G>V		No	ClinGen ExAC TOPMed gnomAD
rs145864024 CA137480878	541	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3783373 rs145864024	541	T>M	Variant assessed as Somatic; 0.0001854 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1252821546 CA363861521	541	T>S		No	ClinGen TOPMed gnomAD
rs762286725 CA3783377	543	D>H	Variant assessed as Somatic; 4.628e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3783376 rs762286725	543	D>N		No	ClinGen ExAC TOPMed gnomAD
rs773558698 COSM1754775 CA363861541	544	Q>H	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA137480894 rs921587843	544	Q>R		No	ClinGen TOPMed
CA363861551 rs1390885239	546	L>M		No	ClinGen TOPMed gnomAD
rs760260697 CA3783379	546	L>R		No	ClinGen ExAC gnomAD
CA137480912 rs1054143687	548	C>Y		No	ClinGen TOPMed
rs753432865 CA363861592	552	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA3783381 rs753432865	552	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA363861606 rs1238193758	554	I>V		No	ClinGen gnomAD
CA3783383 rs765318959	555	G>R		No	ClinGen ExAC TOPMed gnomAD
rs200369147 CA3783384	556	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3783385 rs147433704	560	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA3783386 rs148473105	561	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751308417 CA3783387	561	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1248808868 CA363861660	562	G>S		No	ClinGen TOPMed gnomAD
rs1183503295 CA363861669	563	P>H		No	ClinGen gnomAD
TCGA novel	564	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM84973 CA3783391 rs768699458	564	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs373769650 CA3783390	564	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs748608255 CA3783393	565	G>S		No	ClinGen ExAC TOPMed gnomAD
CA363861691 rs1583330430	567	C>G		No	ClinGen Ensembl
CA3783395 rs773472376	569	I>F		No	ClinGen ExAC gnomAD
rs1278496562 CA363861706	569	I>T		No	ClinGen TOPMed
rs770749684 CA3783397	570	P>L		No	ClinGen ExAC TOPMed gnomAD
rs761063246 CA3783396	570	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM1444129 rs759179299 CA3783399	571	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs367648819 CA3783398	571	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA3783401 rs764832577	573	D>E		No	ClinGen ExAC gnomAD
rs762809243 CA3783403	575	L>F		No	ClinGen ExAC TOPMed gnomAD
CA363861742 rs751341493	576	V>L		No	ClinGen ExAC TOPMed gnomAD
rs751341493 CA3783405	576	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1254600401 CA363861749	577	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA137481090 rs895130872	577	L>P		No	ClinGen TOPMed gnomAD
CA363861756 rs200327931	578	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs200327931 CA3783406	578	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA3783407 rs766636134	579	V>L		No	ClinGen ExAC gnomAD
rs755127721 CA3783409	580	Y>F		No	ClinGen ExAC gnomAD
rs778873675 CA3783410	582	A>V		No	ClinGen ExAC gnomAD
rs1308340528 CA363861787	583	P>L		No	ClinGen gnomAD
CA363861791 rs1449995678	584	Q>L		No	ClinGen gnomAD
rs752953818 CA3783451	586	M>T		No	ClinGen ExAC gnomAD
rs1478991279 CA363861828	587	R>M		No	ClinGen gnomAD
CA3783452 rs763014049	589	H>N		No	ClinGen ExAC TOPMed gnomAD
rs764242468 CA3783453	590	T>I		No	ClinGen ExAC gnomAD
CA363861844 rs1583331571	590	T>P		No	ClinGen Ensembl
rs1283630002 CA363861850	591	S>P		No	ClinGen TOPMed
rs781749586 CA3783456	594	L>P		No	ClinGen ExAC gnomAD
rs527688280 CA137481714	599	V>G		No	ClinGen Ensembl
CA3783460 rs748965234	599	V>L		No	ClinGen ExAC gnomAD
rs748965234 CA3783461	599	V>M		No	ClinGen ExAC gnomAD
rs1340930130 CA363861910	601	V>F		No	ClinGen TOPMed
rs760448753 CA3783466	603	P>H		No	ClinGen ExAC TOPMed gnomAD
CA3783467 rs760448753	603	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1290492014 CA363861922	603	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs776227256 CA3783468	604	Q>R		No	ClinGen ExAC
rs1230316192 CA363861931	605	G>R		No	ClinGen gnomAD
CA3783470 rs764360247	606	D>A		No	ClinGen ExAC gnomAD
rs763245999 CA3783469	606	D>N		No	ClinGen ExAC gnomAD
CA3783472 rs761951088	607	P>L		No	ClinGen ExAC gnomAD
CA3783474 rs150569661	608	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3783473 rs149007517	608	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA363861965 rs1561945306	611	Q>*		No	ClinGen Ensembl
CA363861974 rs1183749881	612	L>Q		No	ClinGen gnomAD
CA3783475 rs756501016	612	L>V		No	ClinGen ExAC TOPMed gnomAD
rs370793358 CA3783476	613	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA3783478 rs754690941	616	G>S		No	ClinGen ExAC gnomAD
rs1163352345 CA363862002	616	G>V		No	ClinGen gnomAD
rs778507562 CA3783479	619	Y>C		No	ClinGen ExAC TOPMed
rs1004814705 CA137481866	621	F>L		No	ClinGen TOPMed
rs1485175307 CA363862043	622	K>N		No	ClinGen TOPMed
rs777758213 CA3783482	623	A>T		No	ClinGen ExAC gnomAD
CA3783485 rs776503823	624	E>K		No	ClinGen ExAC gnomAD
rs759208124 CA3783486	625	T>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	627	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363862081 rs1226061183	628	L>R		No	ClinGen gnomAD
COSM1444130 rs774689896 CA3783488	631	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA363862099 rs1342565500	631	R>H		No	ClinGen TOPMed gnomAD
CA363862101 rs1342565500	631	R>L		No	ClinGen TOPMed gnomAD
rs1207068733 CA363862104	632	W>G		No	ClinGen TOPMed gnomAD
CA363862114 rs1583332056	633	V>G		No	ClinGen Ensembl
CA3783489 rs762040858	633	V>M		No	ClinGen ExAC gnomAD
CA3783490 rs767699368	635	A>T		No	ClinGen ExAC gnomAD
CA3783491 rs773099431	637	E>*		No	ClinGen ExAC TOPMed gnomAD
CA363862138 rs773099431	637	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3783492 rs146814427	637	E>V		No	ClinGen ESP ExAC
CA3783496 rs755277545	638	R>L		No	ClinGen ExAC gnomAD
CA3783495 rs755277545	638	R>Q		No	ClinGen ExAC gnomAD
CA3783494 rs144179620	638	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA363862150 rs752345344	639	A>E		No	ClinGen ExAC gnomAD
CA3783497 rs752345344	639	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	640	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363862151 rs1583332127	640	A>T		No	ClinGen Ensembl
CA363862158 rs1396820443	641	S>G		No	ClinGen gnomAD
CA363862161 rs1336461145	641	S>T		No	ClinGen gnomAD
rs1324736888 CA363862166	642	G>R		No	ClinGen TOPMed gnomAD
CA3783498 rs757982768	643	W>*		No	ClinGen ExAC TOPMed gnomAD
rs777282701 CA363862176	643	W>*		No	ClinGen ExAC TOPMed gnomAD
CA3783499 rs777282701	643	W>C		No	ClinGen ExAC TOPMed gnomAD
rs746451794 CA3783500	644	S>G		No	ClinGen ExAC gnomAD
CA363862184 rs1230262386	644	S>R		No	ClinGen gnomAD
rs780958149 CA3783502	645	P>L		No	ClinGen ExAC gnomAD
rs757246009 CA363862185	645	P>S		No	ClinGen ExAC TOPMed gnomAD
rs757246009 CA3783501	645	P>T		No	ClinGen ExAC TOPMed gnomAD
CA363862203 rs1200655427	647	W>*		No	ClinGen TOPMed gnomAD
rs1200655427 CA363862204	647	W>C		No	ClinGen TOPMed gnomAD
CA3783503 rs370812051	648	P>L		No	ClinGen ESP ExAC gnomAD
CA363862206 rs1280349007	648	P>S		No	ClinGen gnomAD
CA3783507 rs748384279	650	D>E		No	ClinGen ExAC gnomAD
CA3783505 rs774779856	650	D>N		No	ClinGen ExAC TOPMed gnomAD
CA363862219 rs774779856	650	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1419365415 CA363862228	651	G>E		No	ClinGen TOPMed
rs776992906 CA3783511	652	D>E		No	ClinGen ExAC TOPMed gnomAD
rs766960075 CA3783510	652	D>G		No	ClinGen ExAC gnomAD
CA137482007 rs760641082	652	D>N		No	ClinGen ExAC gnomAD
rs760641082 CA3783509	652	D>Y		No	ClinGen ExAC gnomAD
rs1383109188 CA363862245	654	S>F		No	ClinGen gnomAD
rs267601004 CA363862251	655	D>E		No	ClinGen ExAC TOPMed gnomAD
CA3783514 rs765593953	655	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1253346270	656	D>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q7Z6J4

1 regional properties for Q7Z6J4

Type	Name	Position	InterPro Accession
conserved_site	Glycosyltransferase, DXD sugar-binding motif	42 - 147	IPR007577

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytoskeleton Cytoplasm Nucleus Early endosome Early endosome membrane Cell projection, ruffle membrane	Recruitment to the endosome and ruffle membrane requires the presence of phosphoinositides
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
early endosome membrane	The lipid bilayer surrounding an early endosome.
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.
lamellipodium	A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
ruffle	Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork.
ruffle membrane	The portion of the plasma membrane surrounding a ruffle.

4 GO annotations of molecular function

Name	Definition
guanyl-nucleotide exchange factor activity	Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions.
metal ion binding	Binding to a metal ion.
phosphatidylinositol phosphate binding	Binding to phosphatidylinositol phosphate.
small GTPase binding	Binding to a small monomeric GTPase.

7 GO annotations of biological process

Name	Definition
actin cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures.
filopodium assembly	The assembly of a filopodium, a thin, stiff protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal growth cone.
positive regulation of JUN kinase activity	Any process that activates or increases the frequency, rate or extent of JUN kinase activity.
regulation of cell shape	Any process that modulates the surface configuration of a cell.
regulation of GTPase activity	Any process that modulates the rate of GTP hydrolysis by a GTPase.
regulation of small GTPase mediated signal transduction	Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5JSP0	FGD3	FYVE, RhoGEF and PH domain-containing protein 3	Homo sapiens (Human)	PR
P98174	FGD1	FYVE, RhoGEF and PH domain-containing protein 1	Homo sapiens (Human)	PR
P52734	Fgd1	FYVE, RhoGEF and PH domain-containing protein 1	Mus musculus (Mouse)	PR
Q8BY35	Fgd2	FYVE, RhoGEF and PH domain-containing protein 2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MKGASEEKLA	SVSNLVTVFE	NSRTPEAAPR	GQRLEDVHHR	PECRPPESPG	PREKTNVGEA
70	80	90	100	110	120
VGSEPRTVSR	RYLNSLKNKL	SSEAWRKSCQ	PVTLSGSGTQ	EPEKKIVQEL	LETEQAYVAR
130	140	150	160	170	180
LHLLDQVFFQ	ELLKTARSSK	AFPEDVVRVI	FSNISSIYQF	HSQFFLPELQ	RRLDDWTANP
190	200	210	220	230	240
RIGDVIQKLA	PFLKMYSEYV	KNFERAAELL	ATWTDKSPLF	QEVLTRIQSS	EASGSLTLQH
250	260	270	280	290	300
HMLEPVQRIP	RYELLLKEYI	QKLPAQAPDQ	ADAQKALDMI	FSAAQHSNAA	ITEMERLQDL
310	320	330	340	350	360
WEVYQRLGLE	DDIVDPSNTL	LREGPVLKIS	FRRNDPMERY	LFLFNNMLLY	CVPRVIQVGA
370	380	390	400	410	420
QFQVRTRIDV	AGMKVRELMD	AEFPHSFLVS	GKQRTLELQA	RSQEEMISWM	QAFQAAIDQI
430	440	450	460	470	480
EKRNETFKAA	AQGPEGDIQE	QELQSEELGL	RAPQWVRDKM	VTMCMRCQEP	FNALTRRRHH
490	500	510	520	530	540
CRACGYVVCA	RCSDYRAELK	YDDNRPNRVC	LHCYAFLTGN	VLPEAKEDKR	RGILEKGSSA
550	560	570	580	590	600
TPDQSLMCSF	LQLIGDKWGK	SGPRGWCVIP	RDDPLVLYVY	AAPQDMRAHT	SIPLLGYQVT
610	620	630	640	650
VGPQGDPRVF	QLQQSGQLYT	FKAETEELKG	RWVKAMERAA	SGWSPSWPND	GDLSD