AiPD: Autoinhibited Protein Database

Q86UT5

Gene name	PDZD3 (IKEPP, NHERF4, PDZK2, DLNB27)
Protein name	Na(+)/H(+) exchange regulatory cofactor NHE-RF4
Names	NHERF-4, Intestinal and kidney-enriched PDZ protein, Natrium-phosphate cotransporter IIa C-terminal-associated protein 2, Na/Pi cotransporter C-terminal-associated protein 2, NaPi-Cap2, PDZ domain-containing protein 2, PDZ domain-containing protein 3, Sodium-hydrogen exchanger regulatory factor 4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:79849
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

21-101 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

21-101 (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

2 structures for Q86UT5

Entry ID	Method	Resolution	Chain	Position	Source
2V90	X-ray	200 A	A/B/C/D/E/F	326-415	PDB
AF-Q86UT5-F1	Predicted				AlphaFoldDB

552 variants for Q86UT5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA382955372 rs1397178060	2	V>I		No	ClinGen gnomAD
rs1349131981 CA382955391	3	T>I		No	ClinGen TOPMed gnomAD
CA6317503 rs558328629	4	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA
CA6317505 rs761290881	6	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1450581357 CA382955420	6	P>T		No	ClinGen TOPMed
CA382955429 rs1336014415	7	P>A		No	ClinGen TOPMed
rs1440537166 CA382955434	7	P>R		No	ClinGen TOPMed gnomAD
rs1329432116 CA382955438	8	G>C		No	ClinGen gnomAD
rs1165909893 CA382955453	9	N>D		No	ClinGen TOPMed
rs1165909893 CA382955455	9	N>Y		No	ClinGen TOPMed
rs777136462 CA6317510	10	H>D		No	ClinGen ExAC gnomAD
CA229633425 rs1016486657	11	S>P		No	ClinGen TOPMed
rs1241927424 CA382955480	12	L>Q		No	ClinGen TOPMed
rs202218681 CA382955485	13	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs202218681 CA6317511	13	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA382955501 rs1482003770	16	A>G		No	ClinGen gnomAD
rs201135995 CA6317512	16	A>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs201135995 CA6317514	16	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201135995 CA6317513	16	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA382955510 rs1252624804	18	R>Q		No	ClinGen gnomAD
CA6317515 rs766400897	18	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1014092922 CA229633498	19	L>I		No	ClinGen gnomAD
CA382955529 rs1377466299	21	T>A		No	ClinGen gnomAD
CA382955531 rs543000579	21	T>K		No	ClinGen ExAC TOPMed
CA6317516 rs543000579	21	T>M		No	ClinGen ExAC TOPMed
rs1026272064 CA229633515	22	A>S		No	ClinGen TOPMed
CA6317518 rs756051469	23	S>F		No	ClinGen ExAC gnomAD
CA229633533 rs994438361	24	D>G		No	ClinGen TOPMed
CA382955543 rs141007283	24	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6317521 rs141007283	24	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs141007283 CA6317520	24	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759297320 CA6317522	25	L>I		No	ClinGen ExAC TOPMed gnomAD
rs745542687 CA6317525	27	G>A		No	ClinGen ExAC gnomAD
rs542292854 CA6317526	28	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs950415421 CA229633565	29	H>Y		No	ClinGen Ensembl
CA229633573 rs983153195	30	S>A		No	ClinGen TOPMed
rs925923321 CA229633623	32	G>D		No	ClinGen TOPMed
rs747450109 CA6317529	32	G>S		No	ClinGen ExAC TOPMed gnomAD
CA382955606 rs1481642776	34	P>L		No	ClinGen gnomAD
CA382955608 rs769350909	35	L>M		No	ClinGen ExAC TOPMed gnomAD
rs769350909 CA6317530	35	L>V		No	ClinGen ExAC TOPMed gnomAD
CA6317532 rs762315159	36	I>T		No	ClinGen ExAC TOPMed gnomAD
CA382955613 rs1592346985	36	I>V		No	ClinGen Ensembl
CA382955623 rs1195897122	37	T>I		No	ClinGen gnomAD
rs1197396458 CA382955624	38	A>T		No	ClinGen TOPMed gnomAD
CA6317533 rs769874710	39	L>S		No	ClinGen ExAC gnomAD
CA229633686 rs976953649	42	S>G		No	ClinGen Ensembl
CA6317535 rs763105997	42	S>N		No	ClinGen ExAC TOPMed gnomAD
CA6317536 rs766416021	42	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1198184594 CA382955655	43	R>K		No	ClinGen gnomAD
CA6317538 rs760594369	46	R>K		No	ClinGen ExAC gnomAD
CA6317539 CA382955679 rs764069301	46	R>S		No	ClinGen ExAC gnomAD
CA382955677 rs760594369	46	R>T		No	ClinGen ExAC gnomAD
TCGA novel	47	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382955685 rs1386989145	47	G>V		No	ClinGen gnomAD
rs757009602 CA6317541	48	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6317540 rs527643764	48	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1298287606 CA382955691	49	V>A		No	ClinGen TOPMed gnomAD
CA382955692 rs1298287606	49	V>G		No	ClinGen TOPMed gnomAD
rs764967969 CA6317542	49	V>L		No	ClinGen ExAC TOPMed gnomAD
CA382955718 rs1318521786	53	V>A		No	ClinGen TOPMed
CA6317545 rs779608143	54	P>S		No	ClinGen ExAC TOPMed gnomAD
CA6317548 rs781774142	56	P>L		No	ClinGen ExAC gnomAD
rs755516345 CA6317547	56	P>S		No	ClinGen ExAC gnomAD
rs770146038 CA6317550	58	P>S		No	ClinGen ExAC gnomAD
CA6317551 rs773453783	59	T>M		No	ClinGen ExAC TOPMed gnomAD
CA6317552 rs749522538	61	P>L		No	ClinGen ExAC gnomAD
CA382955806 rs1367367464	62	T>A		No	ClinGen TOPMed gnomAD
rs771118339 CA6317553	62	T>N		No	ClinGen ExAC gnomAD
rs771118339 CA382955811	62	T>S		No	ClinGen ExAC gnomAD
rs1327467512 CA382955824	63	T>I		No	ClinGen gnomAD
CA6317556 rs767062573	64	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs767618977 CA6317557	67	T>A		No	ClinGen ExAC TOPMed gnomAD
rs776506792 CA6317559	71	L>M		No	ClinGen ExAC gnomAD
CA382956060 rs1195516406	73	S>R		No	ClinGen TOPMed
CA229633853 rs1002403169	78	H>N		No	ClinGen TOPMed
CA6317563 rs758051910	78	H>Q		No	ClinGen ExAC TOPMed
CA229633875 rs370773530	80	V>F		No	ClinGen TOPMed gnomAD
CA229633862 rs370773530	80	V>I		No	ClinGen TOPMed gnomAD
CA382956246 rs1482596713	82	Q>*		No	ClinGen gnomAD
CA229633889 rs899454443	82	Q>R		No	ClinGen TOPMed
rs751080667 CA6317566	83	A>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	83	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751080667 CA6317565	83	A>V		No	ClinGen ExAC TOPMed gnomAD
rs531805813 CA6317568	85	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6317571 rs117589215	86	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774518838 CA6317573	87	P>H		No	ClinGen ExAC TOPMed gnomAD
rs756450287 CA6317575	88	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1470617473 CA382956402	90	G>E		No	ClinGen TOPMed
CA6317576 rs775555677	92	C>Y		No	ClinGen ExAC gnomAD
rs761802683 CA6317577	93	P>S		No	ClinGen ExAC gnomAD
TCGA novel	94	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1408971440 CA382956483	94	L>V		No	ClinGen TOPMed
CA6317580 rs762694182	95	L>F		No	ClinGen ExAC gnomAD
rs905714857 CA229634010	96	P>L		No	ClinGen Ensembl
CA382956536 rs1286842443	96	P>S		No	ClinGen gnomAD
rs568444563 CA6317582	97	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs568444563 CA6317583	97	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6317584 rs759274660	101	P>S		No	ClinGen ExAC gnomAD
CA382956697 rs1592347507	103	H>P		No	ClinGen Ensembl
rs1169929852 CA382956729	105	P>Q		No	ClinGen TOPMed
rs1017617021 CA229634065	105	P>S		No	ClinGen TOPMed gnomAD
rs767069572 CA6317585	106	D>E		No	ClinGen ExAC gnomAD
CA382956743 rs1332868290	106	D>Y		No	ClinGen gnomAD
CA382956760 rs1189456559	107	P>S		No	ClinGen gnomAD
TCGA novel	108	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6317586 rs149277157	109	S>I		No	ClinGen ESP ExAC TOPMed
CA382956793 rs149277157	109	S>N		No	ClinGen ESP ExAC TOPMed
rs756623038 CA6317587	109	S>R		No	ClinGen ExAC gnomAD
CA6317588 rs201260975	111	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM348349 CA382956808 rs201260975	111	E>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs144418756 CA6317589	112	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs978643355 CA229634087	112	R>W		No	ClinGen TOPMed gnomAD
CA6317591 rs373801289	114	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs746027714 CA6317592	114	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	115	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6317593 rs772342519	116	C>Y		No	ClinGen ExAC gnomAD
CA382956846 rs1270610701	117	L>*		No	ClinGen TOPMed gnomAD
rs1306329183 CA382956855	118	L>R		No	ClinGen gnomAD
CA6317594 rs780091405	119	S>R		No	ClinGen ExAC gnomAD
CA382956860 rs1317047568	119	S>T		No	ClinGen TOPMed gnomAD
rs200463631 CA6317595	122	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA382956888 rs1281524652	123	G>C		No	ClinGen gnomAD
CA382956920 rs1219024599	127	G>A		No	ClinGen TOPMed gnomAD
rs1203620950 CA382956940	130	L>Q		No	ClinGen gnomAD
CA6317598 rs772981064	131	Q>*		No	ClinGen ExAC gnomAD
CA6317600 rs770790606	133	E>D		No	ClinGen ExAC gnomAD
CA6317599 rs376943661	133	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs373304084 CA229634144	134	L>P		No	ClinGen ExAC gnomAD
CA6317601 rs373304084	134	L>R		No	ClinGen ExAC gnomAD
rs759249171 CA6317602	136	R>G		No	ClinGen ExAC gnomAD
rs767327202 CA6317603	136	R>S		No	ClinGen ExAC gnomAD
CA382956982 rs752219912	137	A>D		No	ClinGen ExAC TOPMed gnomAD
CA6317604 rs752219912	137	A>V		No	ClinGen ExAC TOPMed gnomAD
rs754366367 CA6317606	140	V>A		No	ClinGen ExAC TOPMed gnomAD
CA382957006 rs1592347743	141	V>G		No	ClinGen Ensembl
rs1592347749 CA382957030	144	V>G		No	ClinGen Ensembl
TCGA novel	144	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6317608 rs566473052	148	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1330913431 CA382957053	148	T>N		No	ClinGen gnomAD
rs757762031 CA6317609	149	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1327066636 CA382957074	151	Q>H		No	ClinGen gnomAD
CA6317610 rs779240027	152	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6317611 rs200701949	152	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA6317612 rs200701949	152	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1460792222 CA382957090	154	G>A		No	ClinGen TOPMed
CA382957101 rs1233293419	156	Q>P		No	ClinGen TOPMed
CA6317613 rs780182593	157	E>G		No	ClinGen ExAC gnomAD
TCGA novel	158	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6317614 rs141570563	158	G>R		No	ClinGen ESP ExAC
CA6317615 rs768571675	160	R>G		No	ClinGen ExAC gnomAD
CA6317616 rs781346749	160	R>K		No	ClinGen ExAC
rs749114167 CA6317617	162	L>P		No	ClinGen ExAC TOPMed gnomAD
rs749114167 CA382957140	162	L>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	163	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6317618 COSM3415590 rs771058357 COSM3415591	163	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1212665711 CA382957147	164	V>M		No	ClinGen gnomAD
CA6317621 rs772022729	166	N>D		No	ClinGen ExAC gnomAD
CA382957179 rs1475664309	168	V>A		No	ClinGen gnomAD
CA229634343 rs954230213	168	V>I		No	ClinGen gnomAD
COSM1731857 rs760386316 CA6317625 COSM1731856	171	H>Q	NS [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs979007191 COSM923801 CA229634360	172	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA382957219 rs1165882452	174	Y>D		No	ClinGen gnomAD
CA6317627 rs762299427 COSM326108	175	A>E	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
rs762299427 CA382957229	175	A>V		No	ClinGen ExAC TOPMed
rs746197425 CA6317629	176	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA382957250 rs1351095530	177	V>M		No	ClinGen gnomAD
CA382957254 rs1206628181	178	V>I		No	ClinGen gnomAD
rs548072888 CA6317648	179	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6317649 rs375586913	179	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs375586913 CA6317650	179	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs767820595 CA6317651	180	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6317653 rs756211653	182	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs144436412 CA6317652	182	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759582524 CA6317655	184	S>N		No	ClinGen ExAC gnomAD
rs745730063 CA6317656	185	S>G		No	ClinGen ExAC gnomAD
rs1435881075 CA382957295	185	S>N		No	ClinGen gnomAD
rs34614653	186	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6317657 rs758424240	186	P>L		No	ClinGen ExAC gnomAD
rs779696916 CA6317658	187	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA382957304 rs1376724370	187	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA382957307 rs1305885713	188	V>M		No	ClinGen gnomAD
CA6317659 rs746874220	190	L>M		No	ClinGen ExAC gnomAD
COSM1676496 CA382957329 COSM923802 rs1240929700	191	T>I	Variant assessed as Somatic; 0.0 impact. endometrium haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs768166771 CA6317660	193	L>S		No	ClinGen ExAC gnomAD
TCGA novel	194	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1592349272 CA382957345	194	A>V		No	ClinGen Ensembl
CA382957349 rs747822651	195	R>P		No	ClinGen ExAC TOPMed gnomAD
CA6317662 rs747822651	195	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs779522610 CA6317661	195	R>W		No	ClinGen ExAC gnomAD
CA6317664 rs533817767	197	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA229635096 rs936027767	198	H>R		No	ClinGen TOPMed
rs771525980 CA6317667	200	V>L		No	ClinGen ExAC TOPMed gnomAD
CA229635104 rs771525980	200	V>M		No	ClinGen ExAC TOPMed gnomAD
CA6317668 rs774548222	202	R>*		No	ClinGen ExAC gnomAD
CA6317669 rs759904077	202	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA382957437 rs1408842976	203	A>V		No	ClinGen TOPMed
rs1388817708 CA382957447	204	Q>*		No	ClinGen gnomAD
CA6317670 rs767794235	204	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA382957461 rs1297048472	205	L>V		No	ClinGen gnomAD
CA382957470 rs1414203937	206	G>A		No	ClinGen TOPMed
rs1392766936 CA382957480	207	E>G		No	ClinGen gnomAD
CA382957473 rs1396770601	207	E>K		No	ClinGen gnomAD
CA382957517 rs752907937	209	A>G		No	ClinGen ExAC TOPMed gnomAD
CA6317671 rs752907937	209	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6317672 rs760980212	211	L>F		No	ClinGen ExAC gnomAD
rs764262319 CA6317673	211	L>P		No	ClinGen ExAC gnomAD
CA382957549 rs1305564687	212	C>Y		No	ClinGen gnomAD
CA382957566 rs1339905986	213	P>L		No	ClinGen gnomAD
rs146127167 CA6317674	214	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1024153632 CA229635137	215	L>R		No	ClinGen TOPMed
CA382957590 rs1481776380	216	G>S		No	ClinGen gnomAD
CA229635138 rs767776493	217	P>S		No	ClinGen Ensembl
CA6317676 rs201777384	218	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA229635141 rs906996571	219	V>A		No	ClinGen TOPMed
CA6317677 rs558245006	219	V>F		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	219	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752905286 CA382957623	220	R>G		No	ClinGen TOPMed gnomAD
rs371953841 CA382957627	220	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA382957625 rs371953841	220	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs371953841 CA6317678	220	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs752905286 CA229635144	220	R>W		No	ClinGen TOPMed gnomAD
rs374149447 CA6317680	222	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA6317679 rs140060249	222	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6317683 rs748879146	224	C>Y		No	ClinGen ExAC gnomAD
CA382957676 rs1463245524	225	H>P		No	ClinGen TOPMed gnomAD
CA6317685 rs148981432	226	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA382957693 rs1565842706	226	I>M		No	ClinGen Ensembl
rs759972692 CA6317686	226	I>T		No	ClinGen ExAC TOPMed gnomAD
CA6317684 rs148981432	226	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6317687 rs772495632	227	V>M		No	ClinGen ExAC TOPMed gnomAD
CA382957722 rs1355425926	229	D>Y		No	ClinGen TOPMed
rs776061657 CA6317688	230	E>K		No	ClinGen ExAC gnomAD
rs760961566 CA382957752	231	G>D		No	ClinGen ExAC gnomAD
CA229635211 rs368842831	231	G>S		No	ClinGen ESP TOPMed gnomAD
rs760961566 CA6317689	231	G>V		No	ClinGen ExAC gnomAD
rs1296451237	233	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA6317690 rs145705585	234	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6317691 rs753941414	236	S>N		No	ClinGen ExAC
rs35242532 CA6317693	238	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6317696 rs751457984	239	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA382957886 rs1489201863	242	Q>*		No	ClinGen TOPMed
rs753461087 CA382957892	242	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA6317723 rs756925450	246	W>*		No	ClinGen ExAC gnomAD
rs1309599146 CA382957928	246	W>R		No	ClinGen TOPMed gnomAD
rs1234170770 CA382957955	248	V>L		No	ClinGen gnomAD
CA382957953 rs1234170770	248	V>M		No	ClinGen gnomAD
rs1488993378 CA382957974	250	S>R		No	ClinGen gnomAD
rs1485729056 CA382958010	252	G>A		No	ClinGen gnomAD
CA382958022 rs1230830387	253	G>A		No	ClinGen gnomAD
CA382958027 rs1480071335	254	A>T		No	ClinGen gnomAD
CA382958033 rs1177641980	254	A>V		No	ClinGen gnomAD
rs1409876518 CA382958034	255	A>T		No	ClinGen gnomAD
CA382958070 COSM3687120 rs1172904668 COSM3687121	257	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA6317727 rs754091082	257	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6317728 rs747545884	258	A>V		No	ClinGen ExAC gnomAD
rs1592350108 CA382958102	260	V>G		No	ClinGen Ensembl
rs1436684820 CA382958107	261	P>S		No	ClinGen TOPMed gnomAD
rs1354235569 CA382958122	262	P>H		No	ClinGen gnomAD
CA6317731 rs142670540	263	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	264	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769971032 CA6317732	264	A>T		No	ClinGen ExAC gnomAD
rs1233967368 CA382958144	264	A>V		No	ClinGen gnomAD
CA6317734 rs377213680	265	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs773319562 CA6317733	265	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1220452581 CA382958154	266	L>M		No	ClinGen TOPMed gnomAD
rs1220452581 CA382958156	266	L>V		No	ClinGen TOPMed gnomAD
rs766469697 CA6317735	267	L>P		No	ClinGen ExAC gnomAD
rs200700939 CA6317736	268	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200700939 CA382958169	268	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA382958186 rs1204753715	269	V>M		No	ClinGen gnomAD
CA382958233 rs1192724627	272	V>F		No	ClinGen TOPMed gnomAD
rs1592350275 CA382958242	272	V>G		No	ClinGen Ensembl
CA382958262 rs1454030729	274	V>M		No	ClinGen Ensembl
rs1455529674 CA382958273	275	E>K		No	ClinGen gnomAD
CA382958298 rs1166286081	276	K>N		No	ClinGen TOPMed gnomAD
CA6317737 rs564139178	277	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA382958314 rs1410780409	277	F>L		No	ClinGen gnomAD
rs564139178 CA229635565	277	F>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA382958320 rs1592350325	278	T>A		No	ClinGen Ensembl
rs1172841854 CA382958331	279	H>Y		No	ClinGen gnomAD
rs1392490441 CA382958346	281	Q>*		No	ClinGen TOPMed gnomAD
CA382958388 rs1373920595	285	K>E		No	ClinGen gnomAD
CA382958397 rs1437809374	285	K>R		No	ClinGen gnomAD
rs867185973 CA229635766	286	L>I		No	ClinGen Ensembl
rs887742655 CA229635772	287	W>S		No	ClinGen Ensembl
CA382958492 rs1158297275	290	G>E		No	ClinGen gnomAD
rs147147532 CA6317754	292	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA229635780 rs928729841	292	Q>H		No	ClinGen TOPMed
rs147147532 CA6317753	292	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1402949610 CA382958519	292	Q>L		No	ClinGen TOPMed gnomAD
rs1402949610 CA382958518	292	Q>R		No	ClinGen TOPMed gnomAD
CA6317755 rs760592151	293	V>M		No	ClinGen ExAC gnomAD
rs372965400 CA382958538	294	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1473756269 CA382958543	294	T>I		No	ClinGen TOPMed
CA382958540 rs1473756269	294	T>N		No	ClinGen TOPMed
rs372965400 CA6317756	294	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA382958568 rs1592351074	297	V>L		No	ClinGen Ensembl
rs1313134521 CA382958587	298	A>V		No	ClinGen gnomAD
rs1341828836 CA382958590 CA382958591	299	G>R		No	ClinGen gnomAD
CA382958607 rs1351380464	300	P>L		No	ClinGen gnomAD
rs1278730869 CA382958601	300	P>S		No	ClinGen gnomAD
rs1592351114 CA382958636	302	V>G		No	ClinGen Ensembl
rs1269555970 CA382958651	303	E>D		No	ClinGen TOPMed
CA382958646 rs1490546203	303	E>G		No	ClinGen TOPMed
rs1181706874 CA382958641	303	E>Q		No	ClinGen TOPMed
rs1242204097 CA382958657	304	E>*		No	ClinGen TOPMed gnomAD
CA6317758 rs147651078	307	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200101407 CA6317759	307	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6317760 rs750041987	312	P>L		No	ClinGen ExAC gnomAD
CA382958764 rs1436227942	312	P>S		No	ClinGen gnomAD
CA229635822 rs866399168	314	A>V		No	ClinGen gnomAD
rs898296286 CA229635828	315	A>V		No	ClinGen TOPMed
CA382958852 rs1408803464	316	P>S		No	ClinGen TOPMed
rs1312881925 CA382958881	317	L>R		No	ClinGen gnomAD
rs995845933 CA382958936	320	G>A		No	ClinGen TOPMed gnomAD
rs995845933 CA229635833	320	G>D		No	ClinGen TOPMed gnomAD
rs751174533 CA6317765	321	W>*		No	ClinGen ExAC TOPMed gnomAD
CA382958963 rs751174533	321	W>C		No	ClinGen ExAC TOPMed gnomAD
CA382958986 rs1289917125	323	L>V		No	ClinGen TOPMed
rs1448673283 CA382959002	324	P>L		No	ClinGen gnomAD
CA229635852 rs865906841	325	T>I		No	ClinGen Ensembl
CA382959028 rs1301191031	326	K>E		No	ClinGen gnomAD
CA6317766 rs755522087	327	P>S		No	ClinGen ExAC TOPMed gnomAD
CA6317767 rs537793004	328	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6317768 rs753279006	328	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6317769 rs756374264	333	E>K		No	ClinGen ExAC gnomAD
CA229635927 rs549922581	334	K>E		No	ClinGen 1000Genomes
CA382959194 rs1592351406	336	P>H		No	ClinGen Ensembl
rs1192078250 CA382959227	338	G>D		No	ClinGen gnomAD
rs778203906 CA6317770	338	G>S		No	ClinGen ExAC gnomAD
rs1252922446 CA382959253	339	F>L		No	ClinGen gnomAD
rs1162512343 CA382959249	339	F>S		No	ClinGen gnomAD
rs1460190242 CA382959326	343	L>P		No	ClinGen gnomAD
COSM923803 CA6317771 rs749505665	344	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1167000418 CA382959333	344	R>W		No	ClinGen gnomAD
CA229635955 rs563264428	346	E>G		No	ClinGen Ensembl
CA382959401 rs1441528440	348	G>D		No	ClinGen TOPMed gnomAD
CA6317772 rs199721189	348	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA382959397 rs199721189	348	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1252122721 CA382959448	351	G>A		No	ClinGen gnomAD
rs745984936 CA6317775	351	G>S		No	ClinGen ExAC TOPMed gnomAD
CA6317776 rs530541915	352	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1212281082 CA382959460	352	R>H		No	ClinGen TOPMed gnomAD
CA382959454 rs530541915	352	R>S		No	ClinGen ExAC TOPMed gnomAD
CA382959469 rs1230469223	353	P>S		No	ClinGen TOPMed
rs1474735647 CA382961204	354	G>E		No	ClinGen TOPMed
CA6317798 rs748033931	355	Q>H		No	ClinGen ExAC gnomAD
CA382961272 rs1452947863	356	F>L		No	ClinGen gnomAD
CA6317799 rs769831193	358	W>*		No	ClinGen ExAC gnomAD
CA382961426 rs1592352123	360	V>G		No	ClinGen Ensembl
CA382961414 rs749135373	360	V>L		No	ClinGen ExAC TOPMed gnomAD
rs749135373 CA6317801	360	V>M		No	ClinGen ExAC TOPMed gnomAD
rs770882540 CA6317802	361	D>E		No	ClinGen ExAC gnomAD
CA229636258 rs532861999	361	D>G		No	ClinGen gnomAD
CA6317803 rs201022443	362	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs201022443 CA382961474	362	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6317805 rs766929914	363	G>R		No	ClinGen ExAC gnomAD
CA382961537 rs1223015707	365	P>L		No	ClinGen TOPMed
CA6317806 rs775124038	367	K>R		No	ClinGen ExAC gnomAD
rs761063575 CA6317809	368	K>R		No	ClinGen ExAC gnomAD
rs376857797 CA6317810	370	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6317813 rs369023310	371	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369023310 CA6317812	371	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6317814 rs750547222	372	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs199592568 CA229636384	373	A>T		No	ClinGen TOPMed gnomAD
CA382961743 rs1159209639	374	G>R		No	ClinGen gnomAD
CA382961771 rs1592352256	375	D>G		No	ClinGen Ensembl
rs145919293 CA6317818	376	R>Q		No	ClinGen ESP ExAC gnomAD
CA6317817 rs747166648	376	R>W		No	ClinGen ExAC TOPMed gnomAD
rs777813206 CA6317820	378	V>G		No	ClinGen ExAC gnomAD
rs1351579660 CA382961813	378	V>M		No	ClinGen TOPMed
CA382961851 rs1447932569	379	A>D		No	ClinGen gnomAD
CA382961848 rs1447932569	379	A>G		No	ClinGen gnomAD
rs1359798554 CA382961835	379	A>T		No	ClinGen gnomAD
TCGA novel	380	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382961854 rs1312112341	380	V>M		No	ClinGen gnomAD
CA229636406 rs202046943	383	E>G		No	ClinGen Ensembl
rs1592352386 CA382961938	384	S>G		No	ClinGen Ensembl
rs147825281 CA382961957	384	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6317825 rs745491887	385	V>G		No	ClinGen ExAC gnomAD
rs774352787 CA6317824 COSM1561583	385	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1592352426 CA382961993	386	E>G		No	ClinGen Ensembl
CA382962023 rs771805792	387	G>A		No	ClinGen ExAC gnomAD
rs771805792 CA6317826	387	G>E		No	ClinGen ExAC gnomAD
rs1480202030 CA382962111	391	E>G		No	ClinGen TOPMed gnomAD
CA6317827 rs774830447	393	T>I		No	ClinGen ExAC gnomAD
rs763613161 CA6317829	394	V>A		No	ClinGen ExAC TOPMed gnomAD
CA6317828 rs760188255	394	V>M		No	ClinGen ExAC gnomAD
rs1592352470 CA382962183	395	S>Y		No	ClinGen Ensembl
TCGA novel	396	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382962199 rs1193152633	396	R>S		No	ClinGen gnomAD
rs1425932581 CA382962223	398	Q>P		No	ClinGen gnomAD
rs74670179 CA6317830	399	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs74670179 CA382962240	399	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA229636435 rs764171468	400	Q>K		No	ClinGen Ensembl
rs762315886 CA6317831	402	S>F		No	ClinGen ExAC gnomAD
rs1213584226 CA382962280	403	C>R		No	ClinGen TOPMed
rs942276262 CA229636437	403	C>Y		No	ClinGen Ensembl
CA382962290 rs1465686811	404	V>A		No	ClinGen TOPMed
CA382962297 rs1333782808	405	S>F		No	ClinGen gnomAD
CA6317833 rs765583952	407	T>I		No	ClinGen ExAC gnomAD
CA6317834 rs369996939	409	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6317837 rs546867257	411	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA382962332 rs1220402053	411	P>L		No	ClinGen gnomAD
CA382962328 rs546867257	411	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA382962336 rs1316846691	412	E>A		No	ClinGen gnomAD
CA382962341 rs1199113937	413	A>T		No	ClinGen gnomAD
CA6317839 rs150334070	413	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6317841 rs531345939	415	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM171960 rs137900666 CA6317842	415	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA382962362 rs1184787822	416	F>C		No	ClinGen TOPMed gnomAD
CA382962379 rs1419155976	418	S>I		No	ClinGen gnomAD
CA382962384 rs1478263170	419	M>L		No	ClinGen gnomAD
rs765817933 CA6317859	420	V>I		No	ClinGen ExAC TOPMed gnomAD
CA6317858 rs765817933	420	V>L		No	ClinGen ExAC TOPMed gnomAD
COSM3415592 CA6317860 COSM3415593 rs200892689	421	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
COSM923804 CA6317861 rs750347133	421	R>H	Variant assessed as Somatic; 4.624e-05 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6317862 rs148219105	423	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1193110315 CA382962425	424	P>L		No	ClinGen TOPMed gnomAD
CA382962428 rs1467251283	425	L>I		No	ClinGen TOPMed
rs779715561 COSM340335 CA6317863	426	L>F	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6317864 rs746657769	427	F>L		No	ClinGen ExAC gnomAD
CA6317866 rs750950733	431	T>A		No	ClinGen ExAC TOPMed gnomAD
CA382962475 rs1429782069	432	E>A		No	ClinGen TOPMed
CA382962485 rs1392592134	433	A>V		No	ClinGen TOPMed
CA382962491 rs1188756487	434	P>L		No	ClinGen TOPMed gnomAD
CA382962493 rs370445877	435	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs370445877 CA6317868	435	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
COSM458712 rs1419795033 CA382962501	436	S>L	cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA382962498 rs1381421847	436	S>P		No	ClinGen gnomAD
rs972684344 CA229636778	437	P>L		No	ClinGen TOPMed gnomAD
rs200117133 CA382962508	438	R>G		No	ClinGen ExAC TOPMed gnomAD
CA382962510 rs1815811	438	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA382962509 rs1815811	438	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1815811 CA6317874	438	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6317873 rs200117133	438	R>W		No	ClinGen ExAC TOPMed gnomAD
CA382962511 rs764090979	439	G>R		No	ClinGen ExAC gnomAD
CA6317877 rs764090979	439	G>S		No	ClinGen ExAC gnomAD
rs1242493152 CA382962533	442	S>P		No	ClinGen gnomAD
rs766187078 CA6317880	445	L>P		No	ClinGen ExAC gnomAD
CA6317882 rs569580078	446	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs569580078 CA6317881	446	V>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1280951040 CA382962554	446	V>I		No	ClinGen TOPMed gnomAD
rs908347940 CA229636834	449	E>D		No	ClinGen TOPMed
CA382962572 rs1178353264	449	E>K		No	ClinGen TOPMed gnomAD
rs1178353264 CA382962574	449	E>Q		No	ClinGen TOPMed gnomAD
rs1565844700 CA382962587	451	P>A		No	ClinGen Ensembl
CA382962595 rs1239325886	452	S>A		No	ClinGen gnomAD
rs1438221006 CA382962598	452	S>L		No	ClinGen TOPMed gnomAD
rs780787405 CA6317883	455	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1565844727 CA382962631	457	S>N		No	ClinGen Ensembl
rs138457857 CA6317886	458	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6317887 rs777154504	461	V>I		No	ClinGen ExAC gnomAD
CA6317888 rs749799476	462	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1172817785 CA382962656	462	P>S		No	ClinGen gnomAD
CA6317889 rs771390142	463	L>P		No	ClinGen ExAC gnomAD
CA229636896 rs1051789916	465	S>F		No	ClinGen TOPMed
rs1051789916 CA382962675	465	S>Y		No	ClinGen TOPMed
rs746195046 CA382962678	466	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6317892 rs190935754	466	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA382962684 rs1301397538	467	Q>R		No	ClinGen gnomAD
rs1183133601 CA382962696	468	C>W		No	ClinGen TOPMed
rs200910356 CA6317894	471	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1053905234 CA229636913	471	Y>C		No	ClinGen TOPMed
rs762929163 CA6317897	473	G>E		No	ClinGen ExAC gnomAD
CA229636997 rs1009313196	474	P>S		No	ClinGen TOPMed
CA6317899 rs751533047	475	G>D		No	ClinGen ExAC gnomAD
rs1021262498 CA229636999	475	G>S		No	ClinGen TOPMed
CA229637016 rs1020475057	476	G>V		No	ClinGen TOPMed
CA382962750 rs1592353519	478	Y>H		No	ClinGen Ensembl
CA6317902 rs146107413	481	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA6317903 COSM923805 rs755792299	481	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA229637031 rs1033295760	482	L>H		No	ClinGen TOPMed gnomAD
rs1592353556 CA382962799	483	S>R		No	ClinGen Ensembl
rs777313036 CA6317904	484	C>S		No	ClinGen ExAC gnomAD
rs748788153 CA6317905	485	V>L		No	ClinGen ExAC TOPMed gnomAD
rs756822261 CA6317906	486	A>V		No	ClinGen ExAC gnomAD
rs1392115386 CA382962909	488	G>A		No	ClinGen TOPMed
rs148772501 CA6317907	490	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs553384186 CA6317908	490	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6317909 rs141467859	491	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141467859 CA382962953	491	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776061719 CA6317910	493	I>N		No	ClinGen ExAC gnomAD
rs910547579 CA229637232	496	V>A		No	ClinGen gnomAD
CA382963362 rs775527485	499	G>A		No	ClinGen ExAC TOPMed gnomAD
rs775527485 CA6317938	499	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1592354075 CA382963341	499	G>R		No	ClinGen Ensembl
CA382963368 rs1345192008	500	G>R		No	ClinGen TOPMed
CA382963393 rs1257259899	501	S>P		No	ClinGen TOPMed
rs1231354208 CA382963426	502	A>P		No	ClinGen TOPMed
rs763963387 CA6317940	504	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6317939 rs200973740	504	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6317941 rs753362008	505	A>D		No	ClinGen ExAC gnomAD
rs371645247 CA6317942	507	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1592354141 CA382963565	508	Q>*		No	ClinGen Ensembl
CA6317943 rs764824374	509	V>A		No	ClinGen ExAC gnomAD
CA382963630 rs1380390855	510	G>A		No	ClinGen gnomAD
CA6317945 rs758946220	512	V>M		No	ClinGen ExAC TOPMed gnomAD
rs893909494 CA229637277	514	L>P		No	ClinGen TOPMed
CA382963751 rs893909494	514	L>R		No	ClinGen TOPMed
rs1286096367 CA382963809	516	V>A		No	ClinGen gnomAD
rs781623337 CA6317949	517	N>D		No	ClinGen ExAC gnomAD
rs777811298 CA6317952	518	G>E		No	ClinGen ExAC TOPMed gnomAD
CA6317951 rs376557556	518	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA382963898 rs1236353226	519	Y>C		No	ClinGen gnomAD
rs749324405 CA6317953	521	V>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	522	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382964023 rs1382217439	524	Q>*		No	ClinGen gnomAD
CA6317955 rs771019849	524	Q>P		No	ClinGen ExAC gnomAD
COSM1197577 CA382964104 rs1358313767	526	D>E	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	526	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775232946 CA6317956	526	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1359903450 CA382964183	529	R>G		No	ClinGen gnomAD
rs1249290226 CA382964201	529	R>S		No	ClinGen Ensembl
TCGA novel	535	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768328275 CA382964353	535	E>D		No	ClinGen ExAC TOPMed gnomAD
CA6317958 rs368119222	535	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA382964476 rs1565845437	538	P>L		No	ClinGen Ensembl
CA382964440 rs1565845429	538	P>T		No	ClinGen Ensembl
rs765020481 CA6317962	539	P>H		No	ClinGen ExAC gnomAD
COSM3728227 CA229637372 rs1033597837 COSM3728226	539	P>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
CA6317963 rs773033504	540	L>V		No	ClinGen ExAC TOPMed gnomAD
rs762507042 CA382964601	543	K>N		No	ClinGen ExAC gnomAD
rs1457291500 CA382964645	545	A>T		No	ClinGen gnomAD
rs765930816 CA6317965	545	A>V		No	ClinGen ExAC gnomAD
rs1239880531 CA382964657	546	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6317966 rs751943946	547	R>S		No	ClinGen ExAC gnomAD
rs1592354408 CA382964715	548	S>A		No	ClinGen Ensembl
CA382964722 rs1565845476	548	S>F		No	ClinGen Ensembl
rs1565845485 CA382964740	549	L>P		No	ClinGen Ensembl
CA6317968 rs139246619	550	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs45559545 CA6317967	550	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1311236408 CA382964771	551	G>S		No	ClinGen TOPMed
CA382964887 rs1400063700	555	W>*		No	ClinGen TOPMed gnomAD
rs1169051623 CA382964879	555	W>R		No	ClinGen gnomAD
rs1400063700 CA382964892	555	W>S		No	ClinGen TOPMed gnomAD
rs753156368 CA6317970	556	I>N		No	ClinGen ExAC gnomAD
TCGA novel	557	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756499514 CA6317971	557	P>S		No	ClinGen ExAC gnomAD
rs1433761050 CA382964970	558	P>L		No	ClinGen gnomAD
CA382964959 rs1348577017	558	P>S		No	ClinGen gnomAD
CA229637421 rs763100178	559	G>R		No	ClinGen Ensembl
rs1292420614 CA382965014	561	A>T		No	ClinGen TOPMed gnomAD
rs866192091 CA229637431	561	A>V		No	ClinGen Ensembl
rs993924254 CA229637605	565	A>D		No	ClinGen Ensembl
rs1400518066 CA382965256	565	A>P		No	ClinGen gnomAD
rs1592355037 TCGA novel CA382965313	567	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs200802769 COSM1746082 COSM1746081 CA6317990	568	S>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA6317989 rs759939798	568	S>P		No	ClinGen ExAC gnomAD
rs1236053419 CA382965358	569	D>Y		No	ClinGen gnomAD
CA6317993 rs764445924	571	L>P		No	ClinGen ExAC gnomAD

No associated diseases with Q86UT5

3 regional properties for Q86UT5

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	38 - 337	IPR000719
active_site	Serine/threonine-protein kinase, active site	162 - 174	IPR008271
binding_site	Protein kinase, ATP binding site	44 - 70	IPR017441

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Peripheral membrane protein Cytoplasm	Preferentially accumulates at the apical surface and ileal brush border of intestinal epithelial cells (PubMed:11950846, PubMed:19088451)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
apical junction complex	A functional unit located near the cell apex at the points of contact between epithelial cells, which in vertebrates is composed of the tight junction, the zonula adherens, and desmosomes and in some invertebrates, such as Drosophila, is composed of the subapical complex (SAC), the zonula adherens and the septate junction. Functions in the regulation of cell polarity, tissue integrity and intercellular adhesion and permeability.
apical part of cell	The region of a polarized cell that forms a tip or is distal to a base. For example, in a polarized epithelial cell, the apical region has an exposed surface and lies opposite to the basal lamina that separates the epithelium from other tissue.
apical plasma membrane	The region of the plasma membrane located at the apical end of the cell.
brush border	The dense covering of microvilli on the apical surface of an epithelial cell in tissues such as the intestine, kidney, and choroid plexus; the microvilli aid absorption by increasing the surface area of the cell.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

5 GO annotations of molecular function

Name	Definition
guanylate cyclase inhibitor activity	Stops, prevents or reduces the activity of guanylate cyclase.
ion channel inhibitor activity	Binds to and stops, prevents, or reduces the activity of an ion channel.
protein C-terminus binding	Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue.
protein-membrane adaptor activity	The binding activity of a molecule that brings together a protein or a protein complex with a membrane, or bringing together two membranes, either via membrane lipid binding or by interacting with a membrane protein, to establish or maintain the localization of the protein, protein complex or organelle.
ubiquitin-specific protease binding	Binding to a ubiquitin-specific protease.

6 GO annotations of biological process

Name	Definition
ion transport	The directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
negative regulation of cGMP-mediated signaling	Any process that decreases the rate, frequency or extent of cGMP-mediated signaling.
protein localization to plasma membrane	A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane.
receptor guanylyl cyclase signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses guanylyl cyclase activity, and ending with the regulation of a downstream cellular process, e.g. transcription.
response to toxic substance	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxic stimulus.
water transport	The directed movement of water (H2O) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.

11 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3SZK8	NHERF1	Na	Bos taurus (Bovine)	SS
Q5ZM14	NHERF1	Na	Gallus gallus (Chicken)	SS
Q24008	inaD	Inactivation-no-after-potential D protein	Drosophila melanogaster (Fruit fly)	PR
Q9Y6N9	USH1C	Harmonin	Homo sapiens (Human)	PR
O14745	SLC9A3R1	Na(+)/H(+) exchange regulatory cofactor NHE-RF1	Homo sapiens (Human)	EV
Q9JIL4	Pdzk1	Na(+)/H(+) exchange regulatory cofactor NHE-RF3	Mus musculus (Mouse)	PR
Q0QWG9	Grid2ip	Delphilin	Mus musculus (Mouse)	PR
P70441	Slc9a3r1	Na(+)/H(+) exchange regulatory cofactor NHE-RF1	Mus musculus (Mouse)	PR
Q99MJ6	Pdzd3	Na(+)/H(+) exchange regulatory cofactor NHE-RF4	Mus musculus (Mouse)	PR
Q9JJ19	Nherf1	Na	Rattus norvegicus (Rat)	SS
Q9JJ40	Pdzk1	Na(+)/H(+) exchange regulatory cofactor NHE-RF3	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MVTPSPPGNH	SLSLEAPRLH	TASDLLGNHS	LGLPLITALV	GSRDRRGRVF	SPVPVPLPTN
70	80	90	100	110	120
PTTQHPTRQK	LPSTLSGHRV	CQAHGEPVLG	LCPLLPLFCC	PPHPPDPWSL	ERPRFCLLSK
130	140	150	160	170	180
EEGKSFGFHL	QQELGRAGHV	VCRVDPGTSA	QRQGLQEGDR	ILAVNNDVVE	HEDYAVVVRR
190	200	210	220	230	240
IRASSPRVLL	TVLARHAHDV	ARAQLGEDAH	LCPTLGPGVR	PRLCHIVKDE	GGFGFSVTHG
250	260	270	280	290	300
NQGPFWLVLS	TGGAAERAGV	PPGARLLEVN	GVSVEKFTHN	QLTRKLWQSG	QQVTLLVAGP
310	320	330	340	350	360
EVEEQCRQLG	LPLAAPLAEG	WALPTKPRCL	HLEKGPQGFG	FLLREEKGLD	GRPGQFLWEV
370	380	390	400	410	420
DPGLPAKKAG	MQAGDRLVAV	AGESVEGLGH	EETVSRIQGQ	GSCVSLTVVD	PEADRFFSMV
430	440	450	460	470	480
RLSPLLFLEN	TEAPASPRGS	SSASLVETED	PSLEDTSVPS	VPLGSRQCFL	YPGPGGSYGF
490	500	510	520	530	540
RLSCVASGPR	LFISQVTPGG	SAARAGLQVG	DVILEVNGYP	VGGQNDLERL	QQLPEAEPPL
550	560	570
CLKLAARSLR	GLEAWIPPGA	AEDWALASDL	L