AiPD: Autoinhibited Protein Database

Q96PE3

Gene name	INPP4A
Protein name	Inositol polyphosphate-4-phosphatase type I A
Names	Inositol polyphosphate 4-phosphatase type I, Type I inositol 3,4-bisphosphate 4-phosphatase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:3631
EC number	3.1.3.66: Phosphoric monoester hydrolases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

450-527 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

450-527 (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 Q96PE3

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96PE3-F1	Predicted				AlphaFoldDB

615 variants for Q96PE3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA347835223 RCV000986112 rs1574887674	39	Q>*	Intellectual disability [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000991365 rs1574965220	118	S>missing	Pectus excavatum [ClinVar]	Yes	ClinVar dbSNP
rs865939829 CA52630421	3	A>T		No	ClinGen Ensembl
rs1041808835 CA52630423	5	E>G		No	ClinGen TOPMed
CA347834975 rs904631225	6	H>Q		No	ClinGen TOPMed gnomAD
CA347834981 rs1291115639	7	S>N		No	ClinGen TOPMed gnomAD
rs867917323 CA52630427	8	P>H		No	ClinGen Ensembl
COSM1592498 rs781317145 CA1794165	9	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1794166 rs746072331	9	R>H		No	ClinGen ExAC TOPMed gnomAD
rs893272116 CA52630431	10	H>Y		No	ClinGen Ensembl
CA347835010 rs1226743551	12	A>G		No	ClinGen gnomAD
CA347835006 rs1347650312	12	A>S		No	ClinGen gnomAD
CA347835021 rs1317557542	14	A>S		No	ClinGen gnomAD
rs542695419 CA1794168	15	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA347835026 rs542695419	15	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs374377384 CA1794169	15	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs777671884 CA1794170	17	M>T		No	ClinGen ExAC gnomAD
CA52630438 rs1041762454	18	Q>P		No	ClinGen gnomAD
rs761184076 CA1794172	19	R>Q		No	ClinGen ExAC gnomAD
rs773945053 CA1794171	19	R>W		No	ClinGen ExAC TOPMed gnomAD
rs559448251 CA1794173	22	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA52630444 rs377151869	23	I>V		No	ClinGen ESP TOPMed gnomAD
rs528195084 CA1794175	24	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs577655686 CA1794177	25	V>L		No	ClinGen ExAC TOPMed gnomAD
CA52630453 rs577655686	25	V>M		No	ClinGen ExAC TOPMed gnomAD
rs555007396 CA1794178	26	A>V		No	ClinGen ExAC TOPMed gnomAD
CA1794179 rs369738312	27	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs770686205 CA1794181	28	D>N		No	ClinGen ExAC TOPMed gnomAD
rs770686205 CA347835098	28	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA1794182 rs781328166	31	G>D		No	ClinGen ExAC TOPMed gnomAD
CA347835133 rs1241900844	33	S>C		No	ClinGen TOPMed
CA347835137 rs1298613251	34	L>Q		No	ClinGen gnomAD
rs746135561 CA1794183	35	A>T		No	ClinGen ExAC gnomAD
CA347835193 rs1234090562	36	G>A		No	ClinGen TOPMed
rs1355340327 CA347835201	37	N>S		No	ClinGen gnomAD
rs1201869998 CA347835218	38	I>M		No	ClinGen TOPMed
CA347835242 rs1245333228	40	D>E		No	ClinGen Ensembl
CA52630558 rs866060075	43	E>*		No	ClinGen Ensembl
rs56153100 CA52630562	51	A>T		No	ClinGen Ensembl
rs1186635224 CA347835989	57	T>S		No	ClinGen TOPMed
rs199762176 CA1794205	59	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs199762176 CA1794206	59	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1445796140 CA347836010	61	D>G		No	ClinGen gnomAD
rs555202243 CA1794209	61	D>H		No	ClinGen 1000Genomes ExAC gnomAD
rs777176771 COSM1254850 CA1794211	62	R>*	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs777176771 CA1794210	62	R>G		No	ClinGen ExAC gnomAD
rs770541150 CA1794212	62	R>Q		No	ClinGen ExAC gnomAD
rs1476592341 CA347836016	63	K>E		No	ClinGen TOPMed gnomAD
CA347836027 rs1197609651	64	P>R		No	ClinGen gnomAD
rs371104294 CA1794213	65	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1443462676 CA347836039	66	S>N		No	ClinGen TOPMed
CA347836048 rs1337686290	67	F>S		No	ClinGen TOPMed
rs374529118 CA1794215	68	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1178721390 CA347836052	68	V>I		No	ClinGen gnomAD
rs368448330 CA1794216	69	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA347836071 rs1574954201	71	S>N		No	ClinGen Ensembl
rs1411613293 CA347836092	74	T>S		No	ClinGen TOPMed
CA347836098 rs1224916883	75	P>R		No	ClinGen TOPMed gnomAD
rs766419021 CA1794221	81	T>M		No	ClinGen ExAC TOPMed gnomAD
rs766419021 CA1794222	81	T>R		No	ClinGen ExAC TOPMed gnomAD
rs200860936 CA1794224	84	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA347836167 rs1253049558	85	Q>R		No	ClinGen TOPMed
rs902101533 CA52633510	87	E>D		No	ClinGen Ensembl
rs1574954536 CA347836189	88	I>M		No	ClinGen Ensembl
CA347836184 rs1333326913	88	I>V		No	ClinGen TOPMed
CA347836194 rs1268580364	89	I>T		No	ClinGen gnomAD
rs759705008 CA1794242	93	N>D		No	ClinGen ExAC gnomAD
CA1794243 rs765448829	93	N>S		No	ClinGen ExAC gnomAD
rs1395339657 CA347836395	94	N>S		No	ClinGen gnomAD
CA347836407 rs1330339702	95	P>T		No	ClinGen gnomAD
rs758252090 CA1794245	96	I>V		No	ClinGen ExAC gnomAD
rs1307206202 CA347836485	98	L>Q		No	ClinGen TOPMed
rs1451177166 CA347836520	100	S>T		No	ClinGen gnomAD
rs763792117 CA1794246	101	I>V		No	ClinGen ExAC gnomAD
CA1794247 rs751604494	104	F>S		No	ClinGen ExAC gnomAD
rs1323967054 CA347836615	106	D>H		No	ClinGen TOPMed
rs780855388 CA1794249	107	S>C		No	ClinGen ExAC gnomAD
rs367674308 CA1794250	108	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1794252 rs749612424	110	N>S		No	ClinGen ExAC gnomAD
CA347836727 rs1419963032	112	M>I		No	ClinGen TOPMed
CA347836792 rs1182981907	116	K>R		No	ClinGen gnomAD
rs772559256 CA1794254	119	V>M		No	ClinGen ExAC gnomAD
rs1190784585 CA347836893	121	D>N		No	ClinGen gnomAD
rs773503701 CA1794255	125	R>T		No	ClinGen ExAC gnomAD
rs1247867306 CA347837019	127	Q>*		No	ClinGen TOPMed
CA1794256 rs747516165	127	Q>R		No	ClinGen ExAC gnomAD
rs1201440615 CA347837044	128	G>E		No	ClinGen TOPMed
CA1794257 rs771383844	129	T>A		No	ClinGen ExAC gnomAD
CA347837190 rs1343896057	131	Y>C		No	ClinGen TOPMed gnomAD
rs1285447944 CA347837243	135	S>F		No	ClinGen TOPMed
rs973338386 CA52634061	136	G>E		No	ClinGen TOPMed gnomAD
rs61757084 CA1794277	137	T>M		No	ClinGen ExAC gnomAD
rs1260083824 CA347837286	139	I>T		No	ClinGen gnomAD
rs1218553905 CA347837303	140	V>A		No	ClinGen gnomAD
rs769984400 CA1794279	140	V>I		No	ClinGen ExAC gnomAD
rs947710994 CA52634067	143	L>R		No	ClinGen TOPMed
CA1794280 rs150743718	144	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs763249976 CA1794281	148	H>R		No	ClinGen ExAC gnomAD
rs768950190 CA52634073	150	R>S		No	ClinGen ExAC TOPMed gnomAD
CA1794283 rs774317747	152	H>R		No	ClinGen ExAC TOPMed gnomAD
rs749286893 CA1794299	156	R>S		No	ClinGen ExAC gnomAD
CA347837790 rs1160946438	160	S>G		No	ClinGen gnomAD
CA1794300 rs768823614	161	D>A		No	ClinGen ExAC gnomAD
COSM1153883 rs774761280 CA1794301	162	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs774761280 CA347837830	162	R>G		No	ClinGen ExAC TOPMed gnomAD
CA1794302 rs762110602	162	R>H		No	ClinGen ExAC TOPMed gnomAD
rs762110602 CA347837835	162	R>L		No	ClinGen ExAC TOPMed gnomAD
CA347837832 rs774761280	162	R>S		No	ClinGen ExAC TOPMed gnomAD
rs772055735 CA1794303	163	V>I		No	ClinGen ExAC TOPMed gnomAD
CA347837862 rs1328676293	165	N>H		No	ClinGen TOPMed
CA1794304 rs772811983	165	N>K		No	ClinGen ExAC gnomAD
rs760688892 CA1794305	166	I>V		No	ClinGen ExAC gnomAD
CA347837903 rs1311251693	168	V>M		No	ClinGen gnomAD
rs568012920 CA1794307	169	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1574975604 CA347838021	175	E>G		No	ClinGen Ensembl
rs1246454889 CA347838057	177	S>L		No	ClinGen gnomAD
rs200022842 CA1794308	179	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1794310 rs372388910	180	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA1794309 rs764715229	180	R>W		No	ClinGen ExAC TOPMed gnomAD
rs201789590 CA52634483	183	V>M		No	ClinGen 1000Genomes
CA347838141 rs1458702315	184	T>A		No	ClinGen gnomAD
CA347838154 rs754710023	185	R>G		No	ClinGen ExAC TOPMed gnomAD
rs750703654 CA1794313	185	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs754710023 CA1794312	185	R>W		No	ClinGen ExAC TOPMed gnomAD
rs756674628 CA1794314	187	V>E		No	ClinGen ExAC gnomAD
rs780463855 CA1794315	188	D>G		No	ClinGen ExAC TOPMed gnomAD
rs749788333 CA1794316	189	T>I		No	ClinGen ExAC gnomAD
rs765900553 CA1794317	191	N>S		No	ClinGen ExAC TOPMed gnomAD
CA1794319 rs748382061	192	G>E		No	ClinGen ExAC TOPMed gnomAD
CA347838709 rs1391203602	194	M>I		No	ClinGen TOPMed
CA52634698 rs954252241	199	D>N		No	ClinGen TOPMed
CA347838810 rs1336073951	201	S>G		No	ClinGen gnomAD
rs376693773 CA1794334	202	L>F		No	ClinGen ESP ExAC gnomAD
CA52634701 rs983437006	203	T>A		No	ClinGen Ensembl
CA1794335 rs755466013	203	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1221274869 CA347838868	205	A>T		No	ClinGen gnomAD
CA347838872 rs1465343631 COSM1149274	205	A>V	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA347838927 rs1559033620 COSM1153885	209	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs965243879 CA347838933	209	R>L		No	ClinGen TOPMed gnomAD
rs965243879 CA52634712	209	R>Q		No	ClinGen TOPMed gnomAD
rs747244472 CA1794340	213	A>T		No	ClinGen ExAC TOPMed gnomAD
rs769671156 CA347839037	216	R>P		No	ClinGen ExAC gnomAD
CA1794344 rs769671156	216	R>Q		No	ClinGen ExAC gnomAD
rs762489619 CA1794346	218	D>V		No	ClinGen ExAC gnomAD
rs371665036 CA52634728	220	L>S		No	ClinGen ESP TOPMed gnomAD
CA347839121 rs1298629080	222	K>R		No	ClinGen gnomAD
CA1794347 rs374754606	223	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1794348 rs374754606	223	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA347839316 rs1428172571	226	G>S		No	ClinGen Ensembl
rs1379669602 CA347839331	226	G>V		No	ClinGen gnomAD
CA347839337 rs1559035066	227	G>D		No	ClinGen Ensembl
CA1794367 rs200035086	227	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs575955599 CA1794368	228	A>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1357375484 CA347839352	228	A>S		No	ClinGen gnomAD
CA52634849 rs760166680	231	R>C		No	ClinGen Ensembl
COSM1410201 CA347839407 rs1293996326	231	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs772972394 CA1794369	232	M>L		No	ClinGen ExAC TOPMed gnomAD
rs772972394 CA1794370	232	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1574984182 CA347839438	233	Y>S		No	ClinGen Ensembl
CA347839454 COSM1410204 rs1179261857	234	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1437314507 CA347839451	234	R>W		No	ClinGen TOPMed gnomAD
rs1369490476 CA347839476	235	F>C		No	ClinGen gnomAD
rs1438361754 CA347839508	237	T>A		No	ClinGen TOPMed gnomAD
CA52634856 rs1004997426	238	T>N		No	ClinGen Ensembl
rs1239954491 CA347839581	240	G>D		No	ClinGen gnomAD
rs776096061 CA52634860	244	R>Q		No	ClinGen gnomAD
rs866440781 CA52634858	244	R>W		No	ClinGen gnomAD
rs1182792621 CA347839677	245	I>T		No	ClinGen gnomAD
CA347839771 rs1210306690	250	A>G		No	ClinGen TOPMed
CA1794371 rs765686467	251	E>D		No	ClinGen ExAC TOPMed gnomAD
CA1794373 rs763451572	253	V>A		No	ClinGen ExAC gnomAD
rs966111733 CA52634866	253	V>M		No	ClinGen TOPMed gnomAD
CA1794374 rs764097205	254	L>V		No	ClinGen ExAC gnomAD
CA347839872 rs1559035465	255	S>C		No	ClinGen Ensembl
rs781432748 CA347839912	257	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA347839902 rs1312525188	257	H>R		No	ClinGen gnomAD
rs1451061608 CA347839896	257	H>Y		No	ClinGen gnomAD
rs1247349502 CA347839916	258	V>M		No	ClinGen gnomAD
rs755959497 CA1794379	260	R>Q		No	ClinGen ExAC gnomAD
CA1794378 rs541626439	260	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779818332 CA1794380	263	V>M		No	ClinGen ExAC TOPMed gnomAD
CA1794381 rs749183022	264	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1433520259 CA347840059	266	L>P		No	ClinGen TOPMed
CA347840141 rs1370661370	270	D>E		No	ClinGen TOPMed
CA52634883 rs976042932	270	D>G		No	ClinGen Ensembl
rs1477914154 CA347840142	271	A>T		No	ClinGen gnomAD
rs777355583 CA1794404	274	V>M		No	ClinGen ExAC gnomAD
CA347841503 rs1302005223	283	L>P		No	ClinGen gnomAD
CA52635960 rs772683930	284	S>P		No	ClinGen Ensembl
CA1794408 rs749703413	286	C>Y		No	ClinGen ExAC gnomAD
rs1202469558 CA347841627	290	L>V		No	ClinGen TOPMed
CA347841646 rs1360678266	291	R>Q		No	ClinGen gnomAD
CA347841642 rs377398401	291	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1262643000 CA347841658	292	R>C		No	ClinGen TOPMed
CA1794411 rs762301594	292	R>H		No	ClinGen ExAC TOPMed gnomAD
CA347841699 rs1318459535	295	V>I		No	ClinGen TOPMed
CA1794413 rs773215168	296	T>I		No	ClinGen ExAC gnomAD
rs1224892851 CA347841761	298	Y>C		No	ClinGen TOPMed
rs754864431 CA1794417	299	Q>L		No	ClinGen ExAC gnomAD
CA347841813 rs1325697512	301	I>T		No	ClinGen TOPMed
rs1157538357 CA347841805	301	I>V		No	ClinGen gnomAD
CA347841826 rs1334393851	302	I>N		No	ClinGen TOPMed
CA347841864 rs1454279840	305	Y>C		No	ClinGen TOPMed
rs1575008525 CA347841890	307	E>G		No	ClinGen Ensembl
CA1794421 rs777449349	311	D>N		No	ClinGen ExAC TOPMed gnomAD
CA347841953 rs1575008599	313	H>L		No	ClinGen Ensembl
CA347841970 rs1294233585	314	Q>H		No	ClinGen gnomAD
CA347841965 rs1457555917	314	Q>R		No	ClinGen TOPMed gnomAD
CA347842371 rs1476941295	318	P>S		No	ClinGen TOPMed gnomAD
CA1794447 rs751521973	319	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1005454795 CA52636280	319	S>P		No	ClinGen TOPMed
rs759517604 CA52636282	321	K>N		No	ClinGen Ensembl
rs1055459968 CA52636284	327	A>G		No	ClinGen TOPMed
CA347842521 rs1358437838	327	A>T		No	ClinGen gnomAD
rs374558917 CA52636286	329	K>T		No	ClinGen ESP
CA347842591 rs1389138277	330	K>R		No	ClinGen TOPMed gnomAD
CA347842786 rs1304321533	339	H>D		No	ClinGen gnomAD
rs1359464092 CA347842790	339	H>R		No	ClinGen gnomAD
CA347842799 rs1278330016	340	I>V		No	ClinGen TOPMed gnomAD
CA1794448 rs756884198	341	Q>E		No	ClinGen ExAC gnomAD
CA347842878 rs1221084995	341	Q>H		No	ClinGen gnomAD
rs780563566 CA1794449	342	R>K		No	ClinGen ExAC gnomAD
rs948244169 CA52636291	343	M>I		No	ClinGen Ensembl
CA52636292 rs894173921	345	V>I		No	ClinGen TOPMed
rs1442302531 CA347843058	346	Q>R		No	ClinGen gnomAD
rs1024484850 CA52636295	348	D>N		No	ClinGen TOPMed gnomAD
CA347843166 rs1461504431	350	G>E		No	ClinGen Ensembl
rs1011885464 CA52636371	354	N>I		No	ClinGen TOPMed
rs1180664445 CA347843451	356	D>N		No	ClinGen TOPMed
CA347843507 rs368133923	357	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769868588 CA1794460	358	V>I		No	ClinGen ExAC TOPMed gnomAD
CA347843522 rs769868588	358	V>L		No	ClinGen ExAC TOPMed gnomAD
rs775824571 CA1794461	359	T>A		No	ClinGen ExAC gnomAD
rs751612824 CA1794464	360	I>M		No	ClinGen ExAC gnomAD
CA1794463 rs763967792	360	I>T		No	ClinGen ExAC TOPMed gnomAD
CA1794462 rs762891271	360	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1403218618 CA347843630	362	A>V		No	ClinGen TOPMed gnomAD
rs1437895112 CA347843735	367	C>Y		No	ClinGen gnomAD
CA52636393 rs755467240	368	Q>H		No	ClinGen TOPMed
rs1306277360 CA347843913	373	G>R		No	ClinGen gnomAD
rs779717943 CA1794469	376	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1794470 rs753463935	376	R>H		No	ClinGen ExAC gnomAD
CA347844055 rs1259744740	379	L>P		No	ClinGen TOPMed gnomAD
rs1356171484 CA347844084	380	H>Q		No	ClinGen gnomAD
rs758830953 CA1794471	383	E>G		No	ClinGen ExAC gnomAD
CA1794473 rs747532623	384	E>D		No	ClinGen ExAC gnomAD
CA1794474 rs771298129	386	K>R		No	ClinGen ExAC TOPMed gnomAD
CA347844203 rs1484706211	387	K>E		No	ClinGen gnomAD
CA347844229 rs1306294038	388	H>L		No	ClinGen TOPMed
CA347844224 rs1306294038	388	H>P		No	ClinGen TOPMed
rs1351165695 CA347844221	388	H>Y		No	ClinGen TOPMed
rs1465614172 CA347844667	390	E>G		No	ClinGen gnomAD
rs1422251317 CA347844663	390	E>K		No	ClinGen TOPMed gnomAD
rs1332624691 CA347844681	391	E>D		No	ClinGen gnomAD
rs746375136 CA1794494	392	C>G		No	ClinGen ExAC TOPMed gnomAD
CA52636911 rs746375136	392	C>R		No	ClinGen ExAC TOPMed gnomAD
CA1794525 rs759096360	394	T>I		No	ClinGen ExAC gnomAD
COSM3714268 CA1794526 rs546710365	398	C>G	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1440608399 CA347845796	400	S>C		No	ClinGen TOPMed gnomAD
rs1380049804 CA347845766	400	S>P		No	ClinGen gnomAD
rs1440608399 CA347845803	400	S>Y		No	ClinGen TOPMed gnomAD
rs775073693 CA1794527	401	I>V		No	ClinGen ExAC gnomAD
CA1794529 rs767784335	403	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA1794531 rs761294905	404	I>V		No	ClinGen ExAC gnomAD
rs767029111 CA1794532	405	P>S		No	ClinGen ExAC gnomAD
rs534728767 CA52638378	406	Q>R		No	ClinGen Ensembl
CA347845986 rs1351072475	407	D>Y		No	ClinGen TOPMed
CA347846030 rs1281122001	410	R>T		No	ClinGen TOPMed
rs755163707 CA1794534	411	A>T		No	ClinGen ExAC
rs1330496608 CA347846083	412	K>R		No	ClinGen gnomAD
rs752878023 CA1794536	414	I>F		No	ClinGen ExAC TOPMed gnomAD
rs752878023 CA347846143	414	I>L		No	ClinGen ExAC TOPMed gnomAD
rs752878023 CA347846151	414	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1320693278 CA347846188	416	A>T		No	ClinGen gnomAD
rs1406185607 CA347846267	418	I>V		No	ClinGen TOPMed
CA1794540 rs770690916	420	T>S		No	ClinGen ExAC gnomAD
rs1197283927 CA347846321	421	L>P		No	ClinGen gnomAD
CA347846377 rs1575053167	423	T>P		No	ClinGen Ensembl
rs960890310 CA52638405	428	Y>C		No	ClinGen Ensembl
rs745803782 CA1794542	429	A>T		No	ClinGen ExAC TOPMed gnomAD
CA347846506 rs1392799869	431	R>W		No	ClinGen TOPMed gnomAD
rs1453313779 CA347846520	433	S>A		No	ClinGen TOPMed
rs1453313779 CA347846518	433	S>T		No	ClinGen TOPMed
CA347846542 rs1423422253	435	A>T		No	ClinGen gnomAD
rs1023782696 CA52638419	436	A>S		No	ClinGen TOPMed
rs1023782696 CA347846551	436	A>T		No	ClinGen TOPMed
rs1165814102 CA347846555	436	A>V		No	ClinGen gnomAD
CA52638421 rs922441884	438	D>E		No	ClinGen TOPMed
CA347846597 rs1575053418	440	S>A		No	ClinGen Ensembl
rs1420099653 CA347846599	440	S>Y		No	ClinGen gnomAD
CA347846604 rs762533272	441	A>S		No	ClinGen ExAC TOPMed gnomAD
rs762533272 CA1794545	441	A>T		No	ClinGen ExAC TOPMed gnomAD
rs982751951 CA52638429	441	A>V		No	ClinGen TOPMed
rs768313787 CA1794546	442	T>A		No	ClinGen ExAC gnomAD
CA52638447 rs909251709	449	A>T		No	ClinGen gnomAD
CA52638455 rs1055484864	450	I>F		No	ClinGen TOPMed
rs1378046457 CA347846692	450	I>M		No	ClinGen TOPMed gnomAD
rs761166447 CA1794548	452	A>S		No	ClinGen ExAC gnomAD
CA347846719 rs1372612020	453	D>E		No	ClinGen Ensembl
CA347847144 rs1476382968	456	R>L		No	ClinGen TOPMed gnomAD
CA347847125 rs1476382968	456	R>Q		No	ClinGen TOPMed gnomAD
rs747795003 CA1794565	456	R>W		No	ClinGen ExAC gnomAD
rs1575060101 CA347847193	459	V>G		No	ClinGen Ensembl
rs771424128 CA1794566	460	T>M		No	ClinGen ExAC gnomAD
CA347847224 rs1575060167	461	V>G		No	ClinGen Ensembl
CA1794569 rs199795768	463	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1794570 rs199795768	463	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763151498 CA1794571	464	C>R		No	ClinGen ExAC gnomAD
CA347847257 rs1418682438	464	C>Y		No	ClinGen gnomAD
CA347847291 rs1318462890	465	K>R		No	ClinGen gnomAD
CA347847337 rs1433594545	468	A>T		No	ClinGen gnomAD
CA52638987 rs948426426	469	N>D		No	ClinGen gnomAD
CA347847378 rs1367457618	469	N>S		No	ClinGen gnomAD
CA347847392 rs1306049702	471	I>L		No	ClinGen gnomAD
CA347847418 rs1216142672	472	H>L		No	ClinGen gnomAD
CA1794574 rs757414208	475	N>D		No	ClinGen ExAC TOPMed gnomAD
CA1794576 rs750178020 COSM3840351	476	A>T	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs755833435 CA1794577	478	R>Q		No	ClinGen ExAC gnomAD
rs1246074199 CA347847487	478	R>W		No	ClinGen gnomAD
CA347847494 rs1195307225	479	P>S		No	ClinGen gnomAD
rs979776426 CA52638994	481	Y>N		No	ClinGen Ensembl
rs1378224187 CA347847531	482	I>V		No	ClinGen gnomAD
CA1794578 rs780088124	483	A>T		No	ClinGen ExAC gnomAD
rs987490724 CA52639002	485	K>Q		No	ClinGen TOPMed gnomAD
rs754580301 CA1794580	485	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1322266308 CA347847574	486	A>P		No	ClinGen gnomAD
CA347847612 rs1394450811	489	T>I		No	ClinGen gnomAD
CA347847623 rs1442257080	490	S>L		No	ClinGen TOPMed gnomAD
CA347847621 rs1442257080	490	S>W		No	ClinGen TOPMed gnomAD
rs1375139114 CA347847630	491	T>N		No	ClinGen TOPMed gnomAD
rs1280368662 CA347847676	494	E>D		No	ClinGen gnomAD
CA347847684 rs1559065236	495	Q>R		No	ClinGen Ensembl
rs772970541 CA1794584	496	V>M		No	ClinGen ExAC gnomAD
CA347847717 rs1226713108	498	L>F		No	ClinGen gnomAD
rs1248810456 CA347847779	503	D>N		No	ClinGen TOPMed
rs1468896740 CA347847798	504	T>A		No	ClinGen gnomAD
CA347847797 rs1468896740	504	T>P		No	ClinGen gnomAD
CA347847810 rs1215469173	505	L>V		No	ClinGen TOPMed gnomAD
CA1794585 rs375288583	506	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA347847849 rs868390483	508	R>G		No	ClinGen TOPMed gnomAD
CA1794586 rs770046161	508	R>L		No	ClinGen ExAC TOPMed gnomAD
CA347847851 rs770046161	508	R>P		No	ClinGen ExAC TOPMed gnomAD
CA347847850 rs770046161	508	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs868390483 CA52639027	508	R>W		No	ClinGen TOPMed gnomAD
rs776132186 CA1794587	509	W>R		No	ClinGen ExAC gnomAD
rs763302731 CA1794588	512	R>K		No	ClinGen ExAC TOPMed gnomAD
CA1794590 rs80090819	513	N>S		No	ClinGen ExAC gnomAD
rs80090819 CA1794589	513	N>T		No	ClinGen ExAC gnomAD
rs762051809 CA1794591	514	S>G		No	ClinGen ExAC gnomAD
RCV000879790 rs150565121 CA1794592	514	S>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1227700629 CA347847920	515	R>*		No	ClinGen TOPMed
rs750621338 CA1794594	515	R>L		No	ClinGen ExAC TOPMed gnomAD
rs750621338 CA1794593	515	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1295231848 CA347847932	516	S>F		No	ClinGen TOPMed
rs1002778449 CA347847958	519	Q>E		No	ClinGen TOPMed gnomAD
CA52639050 rs1053468796	519	Q>H		No	ClinGen TOPMed
CA52639047 rs1002778449	519	Q>K		No	ClinGen TOPMed gnomAD
CA347847971 rs1329916483	520	V>L		No	ClinGen gnomAD
rs766079936 CA1794596	523	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA347848023 rs1337794979 COSM1210692	524	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1292809714 CA347848059	526	E>Q		No	ClinGen gnomAD
rs754812282 CA1794597	527	W>*		No	ClinGen ExAC TOPMed gnomAD
rs752672695 CA1794618	528	E>A		No	ClinGen ExAC gnomAD
rs1159331421 CA347848666	528	E>D		No	ClinGen TOPMed
CA52639491 rs545370324	529	K>E		No	ClinGen Ensembl
rs1473289811 CA347848724	531	W>*		No	ClinGen TOPMed
CA1794620 rs777352345	531	W>R		No	ClinGen ExAC gnomAD
rs1173362000 CA347848827	536	K>R		No	ClinGen gnomAD
CA1794624 rs145406691	539	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1208984432 CA347848856	539	E>K		No	ClinGen gnomAD
rs768985442 CA1794625	541	I>L		No	ClinGen ExAC gnomAD
rs768985442 CA1794626	541	I>V		No	ClinGen ExAC gnomAD
rs369552937 CA1794627	542	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1219643266 CA347848952	543	Q>R		No	ClinGen TOPMed
CA347848962 rs1297649299	544	R>H		No	ClinGen gnomAD
CA1794629 rs773105537	546	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1233329904 CA347848986	546	D>G		No	ClinGen gnomAD
CA347848991 rs774856300	547	K>*		No	ClinGen gnomAD
CA52639516 rs774856300	547	K>Q		No	ClinGen gnomAD
CA1794632 rs771101867	550	Q>R		No	ClinGen ExAC gnomAD
CA52639519 rs898318637	551	K>R		No	ClinGen Ensembl
rs1210593911 CA347849071	552	E>Q		No	ClinGen TOPMed
rs200476159 CA52639533	553	R>L		No	ClinGen ESP
CA1794633 rs776893699	553	R>W		No	ClinGen ExAC TOPMed gnomAD
rs376518745 CA1794634	554	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA347849101 rs1223193068	555	H>N		No	ClinGen TOPMed
CA347849123 rs1193458054	557	E>K		No	ClinGen gnomAD
CA52639542 rs1001830596	558	G>S		No	ClinGen TOPMed
rs370624475 CA1794635	559	C>Y		No	ClinGen ESP ExAC TOPMed
rs775573311 CA1794636	562	V>I		No	ClinGen ExAC gnomAD
CA1794637 rs374783195	563	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1157091075 CA347849171	563	F>S		No	ClinGen gnomAD
rs1363384669 CA347849179	564	P>R		No	ClinGen gnomAD
rs763684264 CA1794638	565	C>R		No	ClinGen ExAC TOPMed gnomAD
rs573310865 CA1794639	566	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA347849189 rs1290664977	566	A>S		No	ClinGen gnomAD
rs573310865 CA1794640	566	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1440051371 CA347849203	568	S>N		No	ClinGen gnomAD
rs1326395895 CA347849204	568	S>R		No	ClinGen gnomAD
rs1010717183 CA52639570	570	T>A		No	ClinGen TOPMed
CA347849214 rs1010717183	570	T>P		No	ClinGen TOPMed
rs767123792 CA1794641	572	K>N		No	ClinGen ExAC gnomAD
rs1461198536 CA347849227	572	K>Q		No	ClinGen gnomAD
VAR_059359 rs2278206	604	T>A		No	UniProt dbSNP
CA347835609 rs1410729286	613	H>R		No	ClinGen Ensembl
rs1007103913 CA52636407	614	C>G		No	ClinGen gnomAD
rs1369642032 CA347835620	615	S>G		No	ClinGen TOPMed
rs1369642032 CA347835622	615	S>R		No	ClinGen TOPMed
CA1794684 rs763295568	616	P>R		No	ClinGen ExAC gnomAD
rs550142051 CA1794683	616	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA347835636 rs1363209332	617	P>L		No	ClinGen gnomAD
rs200856510 CA1794685	618	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1301676098 CA347835658	620	E>D		No	ClinGen TOPMed gnomAD
CA347835664 rs1347504780	621	S>C		No	ClinGen gnomAD
CA347835678 rs1235295081	623	P>L		No	ClinGen gnomAD
rs1190712972 CA347835772	624	G>D		No	ClinGen gnomAD
CA1794710 rs570871529	630	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA52638139 rs1040233455	631	Y>H		No	ClinGen TOPMed
rs1575101106 CA347835823	631	Y>S		No	ClinGen Ensembl
rs1394330959 CA347835831	632	P>L		No	ClinGen gnomAD
rs1334248840 CA347835855	637	L>F		No	ClinGen gnomAD
CA347835856 rs1334248840	637	L>V		No	ClinGen gnomAD
rs748014577 CA1794714	638	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1231469932 CA347835865	639	D>N		No	ClinGen TOPMed gnomAD
CA347835884 rs1376583946	641	V>A		No	ClinGen TOPMed
CA1794719 rs769531060	641	V>M		No	ClinGen ExAC TOPMed gnomAD
CA1794720 rs745542858	642	A>G		No	ClinGen ExAC gnomAD
rs1436932204 CA347835892	643	M>V		No	ClinGen TOPMed gnomAD
CA347835901 rs1466659031	644	M>V		No	ClinGen TOPMed
CA347836358 rs1158164207	649	K>M		No	ClinGen gnomAD
CA1794722 rs774985949	657	M>V		No	ClinGen ExAC gnomAD
rs1218610798 CA347836610	659	D>Y		No	ClinGen Ensembl
CA347836639 rs1575101595	660	S>G		No	ClinGen Ensembl
rs1575101620 CA347836664 COSM1410220	661	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
CA1794724 rs767987854	661	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1394782344 CA347836701	664	I>V		No	ClinGen TOPMed gnomAD
rs1575101708 CA347836770	666	T>P		No	ClinGen Ensembl
rs766584478 CA1794727	667	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA1794729 rs781151803	671	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA347836938 rs1413047925	672	Y>*		No	ClinGen gnomAD
CA347836924 rs1372591736	672	Y>H		No	ClinGen TOPMed gnomAD
CA1794730 rs369371577	674	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs752859548 CA1794731	674	R>H		No	ClinGen ExAC TOPMed gnomAD
rs777486763 CA347837050	676	V>L		No	ClinGen ExAC gnomAD
rs777486763 CA1794733	676	V>M		No	ClinGen ExAC gnomAD
rs746971958 CA1794734	681	T>M		No	ClinGen ExAC TOPMed gnomAD
rs757028003 CA1794754	684	A>T		No	ClinGen ExAC TOPMed gnomAD
CA1794756 rs745792046	685	L>V		No	ClinGen ExAC gnomAD
rs748966657 CA1794759	688	G>A		No	ClinGen ExAC gnomAD
rs749167994 CA1794758	688	G>S		No	ClinGen ExAC TOPMed gnomAD
rs768380314 CA1794760	690	I>T		No	ClinGen ExAC gnomAD
rs1436731316 CA347837571	690	I>V		No	ClinGen gnomAD
rs1322380161 CA347837587	691	I>V		No	ClinGen gnomAD
rs778676608 CA1794761	695	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1023120061 CA52638766	698	H>Q		No	ClinGen Ensembl
CA347837695 rs1303725216	698	H>R		No	ClinGen gnomAD
rs1236305078 CA347837712	700	D>N		No	ClinGen TOPMed gnomAD
CA1794764 rs777200638	701	G>S		No	ClinGen ExAC gnomAD
CA347837793 rs778648043	704	R>C		No	ClinGen TOPMed gnomAD
rs759905070 CA1794765	704	R>H		No	ClinGen ExAC TOPMed gnomAD
CA52638788 rs778648043	704	R>S		No	ClinGen TOPMed gnomAD
rs1179815128 CA347837941	710	G>E		No	ClinGen gnomAD
rs1575107446 CA347837973	712	L>P		No	ClinGen Ensembl
CA347837988 rs1161305343	713	A>V		No	ClinGen gnomAD
CA52638852 rs868639085	723	G>W		No	ClinGen Ensembl
CA347839230 rs1415814150	727	A>S		No	ClinGen gnomAD
CA52639379 rs968059781	727	A>V		No	ClinGen Ensembl
rs772220065 CA1794806	728	M>V		No	ClinGen ExAC gnomAD
rs556450816 CA1794807	730	E>G		No	ClinGen ExAC gnomAD
CA347839400 rs1172450080	732	M>I		No	ClinGen gnomAD
CA1794808 rs760444744	732	M>T		No	ClinGen ExAC gnomAD
CA347839424 rs1575111358	733	S>N		No	ClinGen Ensembl
rs1310611003 CA347839437	733	S>R		No	ClinGen gnomAD
rs766270566 CA1794809	734	L>F		No	ClinGen ExAC gnomAD
rs1381925171 CA347839533	737	M>I		No	ClinGen gnomAD
CA52639424 rs557468544	737	M>R		No	ClinGen ExAC TOPMed gnomAD
CA1794811 rs557468544	737	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1486009482 CA347839753	745	K>R		No	ClinGen TOPMed
rs1575111518 CA347839803	747	T>P		No	ClinGen Ensembl
rs764873492 CA1794812	748	Q>H		No	ClinGen ExAC gnomAD
CA347839867 rs1461346283	749	A>T		No	ClinGen gnomAD
rs752189169 CA1794813	750	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1485398359 CA347839937	751	S>C		No	ClinGen gnomAD
CA347839915 rs1212887723	751	S>T		No	ClinGen TOPMed
rs763716402 CA1794815	753	A>T		No	ClinGen ExAC TOPMed gnomAD
CA1794816 rs751224706	754	S>F		No	ClinGen ExAC gnomAD
rs371798563 CA1794818	755	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1794819 rs749814576 COSM1410223	755	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA1794820 rs755436208	756	D>V		No	ClinGen ExAC gnomAD
CA347840218 rs1361461179	760	V>A		No	ClinGen gnomAD
rs984538193 CA52639488	760	V>I		No	ClinGen gnomAD
CA1794823 rs369138810	762	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1355495024 CA347840295	764	N>S		No	ClinGen TOPMed
rs267599505 COSM2914228 CA1794824	765	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs375661517 CA1794840	766	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs17852528 CA52639598	767	G>E		No	ClinGen Ensembl
CA347840413 rs1211643235	767	G>R		No	ClinGen gnomAD
CA1794842 rs369986599	769	N>K		No	ClinGen ESP ExAC gnomAD
CA52639607 rs868776416	771	R>L		No	ClinGen Ensembl
rs1223323677 CA347840548	773	P>L		No	ClinGen gnomAD
CA1794848 rs373911327	775	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs373911327 CA1794847	775	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA347840593 rs1320544049	776	G>D		No	ClinGen TOPMed
CA1794850 rs200128112	777	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs187729552 CA52639642	779	F>Y		No	ClinGen 1000Genomes
CA347840694 rs761277162	780	D>E		No	ClinGen ExAC TOPMed gnomAD
rs767204088 CA1794854	781	A>T		No	ClinGen ExAC gnomAD
CA52639652 rs942333191	784	R>Q		No	ClinGen TOPMed gnomAD
CA1794855 rs201375507	784	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA52639657 rs771288373	787	Q>H		No	ClinGen Ensembl
CA347840902 rs1289048134	789	G>D		No	ClinGen gnomAD
rs1231375445 CA347840984	793	R>Q		No	ClinGen gnomAD
rs1575113335 CA347841014	794	V>G		No	ClinGen Ensembl
CA1794859 rs758889570	797	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1205323831 CA347841191	800	N>S		No	ClinGen gnomAD
rs1253335546 CA347841199	801	V>M		No	ClinGen TOPMed gnomAD
CA347841218 rs1484364156	802	G>D		No	ClinGen gnomAD
CA1794860 rs778111638	803	I>M		No	ClinGen ExAC gnomAD
CA347841266 rs1575113501	804	N>K		No	ClinGen Ensembl
CA1794862 rs757400396	804	N>S		No	ClinGen ExAC gnomAD
CA347841346 rs1161435860	807	Q>R		No	ClinGen TOPMed
rs1402357584 CA347841370	808	T>S		No	ClinGen TOPMed
CA1794864 rs781631598	809	L>M		No	ClinGen ExAC gnomAD
CA1794863 rs781631598	809	L>V		No	ClinGen ExAC gnomAD
rs1559094245 CA347842577	812	R>S		No	ClinGen Ensembl
CA52641002 rs536365553	815	D>N		No	ClinGen TOPMed gnomAD
rs778972642 CA347842670	816	T>K		No	ClinGen ExAC gnomAD
rs778972642 CA1794887	816	T>M		No	ClinGen ExAC gnomAD
CA347842729 rs1156760717	817	S>F		No	ClinGen gnomAD
CA1794889 rs771581958	819	Q>R		No	ClinGen ExAC gnomAD
rs1322276760 CA347842853	820	E>G		No	ClinGen gnomAD
rs1368411873 CA347842862	821	V>I		No	ClinGen gnomAD
CA1794890 rs772660121	822	I>T		No	ClinGen ExAC gnomAD
rs1179957113 CA347842880	822	I>V		No	ClinGen TOPMed
CA1794893 rs143132498	824	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA347843069 rs1360616962	826	S>G		No	ClinGen gnomAD
CA1794894 rs763443290	828	V>L		No	ClinGen ExAC gnomAD
CA347843131 rs763443290	828	V>M		No	ClinGen ExAC gnomAD
COSM1153893 rs775014766 CA1794896	829	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA1794895 COSM1210689 rs764302181	829	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs199956128 CA1794897	831	N>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1268252975 CA347843362	835	E>K		No	ClinGen gnomAD
CA1794899 rs750567216	840	V>L		No	ClinGen ExAC TOPMed gnomAD
CA347843756 rs1221382276	843	E>A		No	ClinGen TOPMed
CA347843787 rs1161190998	844	D>N		No	ClinGen gnomAD
rs956816198 CA52643072	846	L>R		No	ClinGen Ensembl
CA347845425 rs773837709	848	R>G		No	ClinGen ExAC TOPMed gnomAD
rs760873847 CA1794917	848	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1794916 rs773837709	848	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1207332339 CA347845454	849	S>C		No	ClinGen gnomAD
rs768206909 CA52643103	850	R>C		No	ClinGen TOPMed gnomAD
CA1794918 rs766300586	850	R>H		No	ClinGen ExAC gnomAD
rs768206909 CA52643097	850	R>S		No	ClinGen TOPMed gnomAD
rs1182294597 CA347845584	853	T>M		No	ClinGen gnomAD
CA347845614 rs1203789261	854	C>Y		No	ClinGen TOPMed
rs1173310435 CA347845817	860	R>Q		No	ClinGen gnomAD
rs759626940 CA1794920	860	R>W		No	ClinGen ExAC gnomAD
rs867760971 CA52643155	866	V>M		No	ClinGen TOPMed
CA1794923 rs758176960	867	H>R		No	ClinGen ExAC gnomAD
CA347846056 rs777754514	869	R>G		No	ClinGen ExAC gnomAD
CA1794925 rs751388671	869	R>Q		No	ClinGen ExAC gnomAD
CA1794924 rs777754514	869	R>W		No	ClinGen ExAC gnomAD
rs756807901 CA347846131	871	N>K		No	ClinGen ExAC gnomAD
CA52643185 rs371978515	874	V>I		No	ClinGen ESP TOPMed gnomAD
CA1794929 rs200422797	876	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1187659012 CA347846324	877	L>I		No	ClinGen TOPMed gnomAD
rs1187659012 CA347846327	877	L>V		No	ClinGen TOPMed gnomAD
rs867332311 CA52643189	878	W>*		No	ClinGen Ensembl
CA347846443 rs1189015429	881	A>T		No	ClinGen TOPMed gnomAD
rs747581221 CA1794952	883	I>M		No	ClinGen ExAC gnomAD
CA1794953 rs777173666	885	R>C		No	ClinGen ExAC gnomAD
CA347848251 rs1330981099	885	R>H		No	ClinGen gnomAD
CA1794954 rs746015383	886	R>H		No	ClinGen ExAC TOPMed gnomAD
rs769799518 CA1794955	887	L>F		No	ClinGen ExAC gnomAD
CA347848282 rs1451799059	888	N>D		No	ClinGen gnomAD
rs775704490 CA1794956	888	N>S		No	ClinGen ExAC gnomAD
CA52645861 rs748666548	890	V>I		No	ClinGen Ensembl
rs763911653 CA1794958	897	S>N		No	ClinGen ExAC gnomAD
CA347848440 rs1253115648	898	A>T		No	ClinGen TOPMed gnomAD
CA347848506 rs1471383993 COSM1210695	901	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1471383993 CA347848504	901	R>L		No	ClinGen TOPMed gnomAD
CA347848562 rs1296533937	910	Q>P		No	ClinGen TOPMed
CA1794963 rs755686860	917	E>K		No	ClinGen ExAC TOPMed gnomAD
CA1794964 rs765927319	922	P>A		No	ClinGen ExAC gnomAD
rs749589397 CA1794965	922	P>L		No	ClinGen ExAC gnomAD
rs1575164357 CA347848795	924	V>G		No	ClinGen Ensembl
rs1307423471 CA347848799	925	F>L		No	ClinGen gnomAD
rs747382056 CA1794968	926	T>S		No	ClinGen ExAC gnomAD
CA347848898 rs781556120	929	L>V		No	ClinGen ExAC gnomAD
CA347848992 rs1376413964	932	M>R		No	ClinGen gnomAD
COSM1592478 rs1271977013 CA347849022	933	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA347852995 rs1167398012	937	C>S		No	ClinGen gnomAD
CA347852983 rs1167398012	937	C>Y		No	ClinGen gnomAD
CA347853019 rs1370549873	938	R>*		No	ClinGen gnomAD
CA1795033 rs755469992	938	R>Q		No	ClinGen ExAC gnomAD
rs1374188767 CA347853144	942	T>I		No	ClinGen TOPMed gnomAD
rs943761487 CA52652430	943	M>V		No	ClinGen TOPMed gnomAD
rs1476692844 CA347853494	949	R>C		No	ClinGen TOPMed gnomAD
rs1036821336 CA52652437	952	A>E		No	ClinGen TOPMed
rs370403116 CA1795038	954	N>I		No	ClinGen ESP ExAC gnomAD
rs897971659 CA52652465	959	K>M		No	ClinGen TOPMed
CA347853897 rs1462237152	960	A>D		No	ClinGen gnomAD
CA1795042 rs769821187	960	A>T		No	ClinGen ExAC TOPMed gnomAD
rs775278736 CA347854028	964	H>P		No	ClinGen ExAC TOPMed gnomAD
rs775278736 CA1795043	964	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1204028888 CA347854084	965	Y>C		No	ClinGen gnomAD
CA1795044 rs748891676	968	P>T		No	ClinGen ExAC gnomAD
CA1795046 rs529481819	969	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs529481819 CA347854268	969	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1419624829 CA347854336	971	T>A		No	ClinGen gnomAD
CA52652478 rs924202891	971	T>S		No	ClinGen Ensembl
CA347854361 rs1386331467	972	Y>D		No	ClinGen gnomAD
CA52652487 rs76257041	973	G>R		No	ClinGen 1000Genomes gnomAD
CA347854487 rs1559132688	977	T>M		No	ClinGen Ensembl
rs777096175 CA1795049	978	T>G		No	ClinGen ExAC gnomAD

No associated diseases with Q96PE3

1 regional properties for Q96PE3

Type	Name	Position	InterPro Accession
domain	C2 domain	26 - 153	IPR000008

Functions

		Description
EC Number	3.1.3.66	Phosphoric monoester hydrolases
Subcellular Localization	Early endosome membrane Recycling endosome membrane Cell membrane Nucleus Cytoplasm Postsynaptic density	Translocates to the plasma membrane upon EGF stimulation (PubMed:15716355) Shuttles between the cytoplasm and the nucleus, depending on the cell cycle stage, with highest amounts detected in the nucleus during the G0/G1phase (PubMed:30071275)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

10 GO annotations of cellular component

Name	Definition
anchoring junction	A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.
nuclear membrane	Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
postsynaptic density	An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components.
recycling endosome membrane	The lipid bilayer surrounding a recycling endosome.

4 GO annotations of molecular function

Name	Definition
inositol-1,3,4-trisphosphate 4-phosphatase activity	Catalysis of the reaction: D-myo-inositol 1,3,4-trisphosphate + H2O = myo-inositol 1,3-bisphosphate + phosphate.
inositol-3,4-bisphosphate 4-phosphatase activity	Catalysis of the reaction: 1D-myo-inositol 3,4-bisphosphate + H2O = 1D-myo-inositol 3-phosphate + phosphate.
phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity	Catalysis of the reaction: 1-phosphatidyl-myo-inositol 3,4-bisphosphate + H2O = 1-phosphatidyl-1D-myo-inositol 3-phosphate + phosphate.
phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	Catalysis of the reaction: 1-phosphatidyl-myo-inositol 4,5-bisphosphate + H2O = 1-phosphatidyl-1D-myo-inositol 3-phosphate + phosphate.

3 GO annotations of biological process

Name	Definition
inositol phosphate metabolic process	The chemical reactions and pathways involving inositol phosphate, 1,2,3,4,5,6-cyclohexanehexol, with one or more phosphate groups attached.
phosphatidylinositol biosynthetic process	The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9EPW0	Inpp4a	Inositol polyphosphate-4-phosphatase type I A	Mus musculus (Mouse)	PR
Q62784	Inpp4a	Inositol polyphosphate-4-phosphatase type I A	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MTAREHSPRH	GARARAMQRA	STIDVAADML	GLSLAGNIQD	PDEPILEFSL	ACSELHTPSL
70	80	90	100	110	120
DRKPNSFVAV	SVTTPPQAFW	TKHAQTEIIE	GTNNPIFLSS	IAFFQDSLIN	QMTQVKLSVY
130	140	150	160	170	180
DVKDRSQGTM	YLLGSGTFIV	KDLLQDRHHR	LHLTLRSAES	DRVGNITVIG	WQMEEKSDQR
190	200	210	220	230	240
PPVTRSVDTV	NGRMVLPVDE	SLTEALGIRS	KYASLRKDTL	LKSVFGGAIC	RMYRFPTTDG
250	260	270	280	290	300
NHLRILEQMA	ESVLSLHVPR	QFVKLLLEED	AARVCELEEL	GELSPCWESL	RRQIVTQYQT
310	320	330	340	350	360
IILTYQENLT	DLHQYRGPSF	KASSLKADKK	LEFVPTNLHI	QRMRVQDDGG	SDQNYDIVTI
370	380	390	400	410	420
GAPAAHCQGF	KSGGLRKKLH	KFEETKKHFE	ECCTSSGCQS	IIYIPQDVVR	AKEIIAQINT
430	440	450	460	470	480
LKTQVSYYAE	RLSRAAKDRS	ATGLERTLAI	LADKTRQLVT	VCDCKLLANS	IHGLNAARPD
490	500	510	520	530	540
YIASKASPTS	TEEEQVMLRN	DQDTLMARWT	GRNSRSSLQV	DWHEEEWEKV	WLNVDKSLEC
550	560	570	580	590	600
IIQRVDKLLQ	KERLHGEGCE	DVFPCAGSCT	SKKGNPDSHA	YWIRPEDPFC	DVPSSPCPST
610	620	630	640	650	660
MPSTACHPHL	TTHCSPPPEE	SSPGEWSEAL	YPLLTTLTDC	VAMMSDKAKK	AMVFLLMQDS
670	680	690	700	710	720
APTIATYLSL	QYRRDVVFCQ	TLTALICGFI	IKLRNCLHDD	GFLRQLYTIG	LLAQFESLLS
730	740	750	760	770	780
TYGEELAMLE	DMSLGIMDLR	NVTFKVTQAT	SSASADMLPV	ITGNRDGFNV	RVPLPGPLFD
790	800	810	820	830	840
ALPREIQSGM	LLRVQPVLFN	VGINEQQTLA	ERFGDTSLQE	VINVESLVRL	NSYFEQFKEV
850	860	870	880	890	900
LPEDCLPRSR	SQTCLPELLR	FLGQNVHARK	NKNVDILWQA	AEICRRLNGV	RFTSCKSAKD
910	920	930	940	950	960
RTAMSVTLEQ	CLILQHEHGM	APQVFTQALE	CMRSEGCRRE	NTMKNVGSRK	YAFNSLQLKA
970
FPKHYRPPEG	TYGKVET