AiPD: Autoinhibited Protein Database

O14786

Gene name	NRP1
Protein name	Neuropilin-1
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8829
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

254-339 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

254-339 (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

24 structures for O14786

Entry ID	Method	Resolution	Chain	Position	Source
1KEX	X-ray	190 A	A	273-427	PDB
2QQI	X-ray	180 A	A	273-586	PDB
2QQM	X-ray	200 A	A	141-586	PDB
2QQN	X-ray	220 A	A	273-427	PDB
3I97	X-ray	290 A	A/B	273-427	PDB
4DEQ	X-ray	265 A	A/B	274-429	PDB
4RN5	X-ray	173 A	A	273-427	PDB
5C7G	X-ray	145 A	A	273-427	PDB
5IJR	X-ray	152 A	A/B	273-427	PDB
5IYY	X-ray	160 A	A/B	273-427	PDB
5J1X	X-ray	210 A	A/B/C/D	273-427	PDB
5JGI	X-ray	138 A	A/B	273-427	PDB
5JGQ	X-ray	160 A	A/B	273-427	PDB
5JHK	X-ray	180 A	A/B	273-427	PDB
5L73	X-ray	224 A	A/B	628-813	PDB
6FMC	X-ray	090 A	A	273-427	PDB
6FMF	X-ray	281 A	A	273-427	PDB
6TKK	X-ray	106 A	A	273-427	PDB
7JJC	X-ray	236 A	A/B/C/D	273-427	PDB
7O1N	X-ray	156 A	A	273-427	PDB
7P5U	X-ray	160 A	AAA/BBB	273-427	PDB
8C5G	X-ray	270 A	A/B	271-586	PDB
8PFE	X-ray	135 A	A/C	273-427	PDB
AF-O14786-F1	Predicted				AlphaFoldDB

696 variants for O14786

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1482222602 CA376510569	2	E>D		No	ClinGen gnomAD
rs757732321 CA5467060	3	R>G		No	ClinGen ExAC gnomAD
CA206005821 rs866275912	3	R>K		No	ClinGen TOPMed
CA206005819 rs953208828	3	R>S		No	ClinGen TOPMed gnomAD
CA206005820 rs866275912	3	R>T		No	ClinGen TOPMed
rs1282658453 CA376510548	7	L>F		No	ClinGen gnomAD
CA5467058 rs764282718	7	L>P		No	ClinGen ExAC TOPMed gnomAD
rs760822303 CA376510542	8	L>F		No	ClinGen ExAC TOPMed gnomAD
rs760822303 CA5467057	8	L>I		No	ClinGen ExAC TOPMed gnomAD
rs1341197483 CA376510536	9	C>G		No	ClinGen TOPMed
rs1377623827 CA376510504	14	L>F		No	ClinGen TOPMed gnomAD
rs1311811089 CA376510503	14	L>R		No	ClinGen gnomAD
rs1377623827 CA376510505	14	L>V		No	ClinGen TOPMed gnomAD
rs374322029 CA5467055	15	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1166283194 CA376510495	16	L>I		No	ClinGen gnomAD
CA376510483 rs1373477482	18	P>T		No	ClinGen gnomAD
rs1422054694 CA376510477	19	A>T		No	ClinGen TOPMed gnomAD
rs1255367960 CA376510469	20	G>C		No	ClinGen TOPMed gnomAD
CA376510471 rs1255367960	20	G>S		No	ClinGen TOPMed gnomAD
rs1486018391 CA376510463	21	A>D		No	ClinGen gnomAD
rs894220185 CA206005812	21	A>T		No	ClinGen gnomAD
CA5467052 rs770720421	23	R>C		No	ClinGen ExAC
rs1174726719 CA376510446	24	N>D		No	ClinGen TOPMed
CA376510442 rs1259904998	24	N>S		No	ClinGen gnomAD
CA376510438 rs1338952516	25	D>H		No	ClinGen gnomAD
rs374276976 CA5467038	29	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA376510393 rs1386346760	29	D>V		No	ClinGen gnomAD
rs867341914 CA206005139	31	I>T		No	ClinGen TOPMed gnomAD
rs746772930 CA206005137	32	K>N		No	ClinGen Ensembl
CA376510374 rs1258659568	32	K>R		No	ClinGen TOPMed
CA5467037 rs759708920	33	I>M		No	ClinGen ExAC gnomAD
CA376510354 rs1184185740	35	S>N		No	ClinGen gnomAD
rs751738413 CA5467036	36	P>L		No	ClinGen ExAC
CA376510295 rs1270349204	44	Y>F		No	ClinGen TOPMed
CA376510289 rs1479432602	45	P>S		No	ClinGen TOPMed
CA206005125 rs964215241	49	H>Q		No	ClinGen TOPMed
rs761687731 CA5467031	49	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1402299798 CA376510255	50	P>S		No	ClinGen TOPMed
rs1156630275 CA376510247	51	S>N		No	ClinGen TOPMed
CA5467030 rs776148094	53	K>E		No	ClinGen ExAC gnomAD
CA5467029 rs768142109	54	C>R		No	ClinGen ExAC gnomAD
CA376510221 rs1230660558	55	E>K		No	ClinGen gnomAD
CA5467027 rs779741661	59	Q>E		No	ClinGen ExAC gnomAD
CA376510189 rs1303960267	59	Q>R		No	ClinGen gnomAD
rs771267477 CA5467026	61	P>L		No	ClinGen ExAC gnomAD
rs1358919959 CA376510168	62	D>E		No	ClinGen TOPMed
rs1419281327 CA376510164	63	P>S		No	ClinGen TOPMed
CA376510160 rs1564496635	64	Y>N		No	ClinGen Ensembl
CA5467022 rs371886197	65	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	66	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376510142 rs1385818807	66	R>T		No	ClinGen gnomAD
rs751789763 CA5467019	68	M>I		No	ClinGen ExAC gnomAD
rs755031065 CA5467020	68	M>T		No	ClinGen ExAC TOPMed gnomAD
CA5467021 rs781138129	68	M>V		No	ClinGen ExAC gnomAD
CA5467017 rs762780832	73	P>L		No	ClinGen ExAC gnomAD
rs750237365 CA5467016	74	H>L		No	ClinGen ExAC TOPMed gnomAD
rs1285825996 CA376510071	76	D>G		No	ClinGen TOPMed gnomAD
rs1448051089 CA376510074	76	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA376510062 rs1346722965	77	L>F		No	ClinGen gnomAD
rs1043147971 CA206005104	77	L>M		No	ClinGen Ensembl
CA376510043 rs1305279518	80	R>*		No	ClinGen TOPMed
TCGA novel	80	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775797226 CA206005100	83	K>E		No	ClinGen gnomAD
CA205491271 rs779448802	87	V>A		No	ClinGen Ensembl
rs753783818 CA5466995	87	V>M		No	ClinGen ExAC TOPMed gnomAD
rs533652148 COSM1347668 CA5466993	91	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA376483758 rs1401090199	95	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs767096379 CA5466991	96	N>S		No	ClinGen ExAC
rs775089363 CA5466992	96	N>Y		No	ClinGen ExAC gnomAD
CA5466990 rs759268484	97	G>V		No	ClinGen ExAC gnomAD
CA205491223 rs1016982339	98	H>P		No	ClinGen TOPMed
TCGA novel	99	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1163348245 CA376483720	100	R>M		No	ClinGen gnomAD
rs200028992 CA5466989	101	G>E		No	ClinGen ExAC gnomAD
CA376483705 rs770342995	102	K>N		No	ClinGen ExAC TOPMed gnomAD
CA376483681 rs1338361507	106	K>E		No	ClinGen TOPMed
rs748521141 CA5466987	107	I>L		No	ClinGen ExAC gnomAD
CA205491212 rs748521141	107	I>V		No	ClinGen ExAC gnomAD
COSM1645683 COSM1645684 rs777048356 CA5466986 COSM465619	108	A>T	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	110	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766086952 CA5466984	110	P>S		No	ClinGen ExAC TOPMed
rs377601784 CA205491194	111	P>L		No	ClinGen ESP TOPMed
rs1439297364 CA376483642	113	V>L		No	ClinGen gnomAD
rs780182320 CA5466983	117	P>L		No	ClinGen ExAC TOPMed gnomAD
CA376483618 rs1436186127	117	P>T		No	ClinGen Ensembl
rs746144639 CA5466982 COSM1217851	119	L>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA376483603 rs1343522633	119	L>P		No	ClinGen TOPMed
rs746144639 CA5466981	119	L>V		No	ClinGen ExAC gnomAD
rs753645404 CA5466978	122	K>T		No	ClinGen ExAC TOPMed gnomAD
rs763747196 CA5466977	124	V>D		No	ClinGen ExAC gnomAD
rs142912222 CA5466975	127	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA376483544 rs1588889788	128	E>Q		No	ClinGen Ensembl
CA376483514 rs1461436045	132	A>E		No	ClinGen gnomAD
rs759105775 COSM162994 CA5466973	134	F>L	NS [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1416723101 CA376483486	136	I>M		No	ClinGen gnomAD
rs766101815 CA5466972	137	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs150347665 CA5466970	137	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs766101815 CA5466971	137	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5466969 rs180868035 RCV000931194	140	I>L		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA376483447 rs1459792917	142	K>R		No	ClinGen TOPMed
rs1250979931 CA376483444	143	R>G		No	ClinGen gnomAD
rs1212825426 CA376483438	143	R>S		No	ClinGen gnomAD
CA376482524 rs1230188430	144	G>D		No	ClinGen TOPMed
rs1337857872 CA376482488	146	E>A		No	ClinGen TOPMed
CA5466950 rs764575518	147	C>R		No	ClinGen ExAC gnomAD
TCGA novel	151	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1401227091 CA376482401	151	Y>H		No	ClinGen TOPMed gnomAD
CA5466946 rs527361837	154	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs527361837 CA5466947	154	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5466948 rs776015472	154	P>S		No	ClinGen ExAC TOPMed gnomAD
rs774445478 CA5466945	155	S>N		No	ClinGen ExAC gnomAD
rs559961807 CA5466944 CA376482321	155	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774445478 CA376482327	155	S>T		No	ClinGen ExAC gnomAD
CA376482304 rs1450276055	157	V>A		No	ClinGen TOPMed
CA5466943 rs749539019	157	V>M		No	ClinGen ExAC gnomAD
CA376482293 rs1190789897	158	I>T		No	ClinGen TOPMed
CA5466942 rs777846803	159	K>E		No	ClinGen ExAC TOPMed gnomAD
rs777846803 CA376482291	159	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs138480424 CA5466941	159	K>R		No	ClinGen ESP ExAC
CA205486533 rs912015040	161	P>S		No	ClinGen TOPMed
rs1210497251 CA376482239	162	G>E		No	ClinGen gnomAD
rs760204296 CA5466939	162	G>R		No	ClinGen ExAC gnomAD
CA205486521 rs199984109	171	L>F		No	ClinGen TOPMed gnomAD
CA376482115 rs199984109	171	L>I		No	ClinGen TOPMed gnomAD
CA5466938 rs754991998	172	E>Q		No	ClinGen ExAC gnomAD
CA5466936 rs779720457	176	I>V		No	ClinGen ExAC TOPMed gnomAD
CA5466934 VAR_046536 rs7079053	179	V>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA205486452 rs386742804	179	V>A		No	ClinGen Ensembl
CA376481989 rs7079053	179	V>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA205486439 rs201526603	180	P>L		No	ClinGen 1000Genomes TOPMed
rs761148975 CA5466932	180	P>S		No	ClinGen ExAC gnomAD
rs753081430 CA5466931	181	K>E		No	ClinGen ExAC TOPMed
CA5466930 rs767829083	181	K>N		No	ClinGen ExAC gnomAD
CA5466929 rs760040713	182	M>T		No	ClinGen ExAC gnomAD
CA376481910 rs1347724696	184	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs774782566 CA5466928	186	I>F		No	ClinGen ExAC gnomAD
CA5466927 rs766540692	186	I>N		No	ClinGen ExAC gnomAD
rs1173936257 CA376481863	188	E>Q		No	ClinGen gnomAD
rs1415820731 CA376481777	193	D>E		No	ClinGen TOPMed gnomAD
rs762939897 CA5466926	196	P>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	196	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1486129684 CA376481700	199	N>T		No	ClinGen gnomAD
TCGA novel	200	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1258450460 CA376481689	200	P>T		No	ClinGen gnomAD
rs200265591 CA5466925	201	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs941004239 CA205486370	202	G>A		No	ClinGen TOPMed gnomAD
rs1480484289 CA376481674	202	G>R		No	ClinGen gnomAD
CA205486359 rs941004239	202	G>V		No	ClinGen TOPMed gnomAD
rs769888879 CA5466924	203	G>A		No	ClinGen ExAC TOPMed gnomAD
CA205486353 rs909532212	203	G>R		No	ClinGen TOPMed gnomAD
rs752379925	204	M>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376481638 rs1456188657	204	M>I		No	ClinGen gnomAD
CA5466920 rs148308681	207	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs981912877 CA205486309	208	Y>C		No	ClinGen Ensembl
CA5466919 rs746998077	208	Y>H		No	ClinGen ExAC gnomAD
rs757963789 CA376481547	210	R>L		No	ClinGen ExAC TOPMed gnomAD
rs757963789 CA205486272	210	R>P		No	ClinGen ExAC TOPMed gnomAD
rs757963789 CA5466917	210	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs779848424 CA5466918	210	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1459872074 CA376481517	215	D>N		No	ClinGen gnomAD
CA376481497 rs1393567589	217	F>L		No	ClinGen gnomAD
TCGA novel	217	F>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1164308760 CA376481488	219	D>H		No	ClinGen gnomAD
CA5466898 rs778291277	220	V>A		No	ClinGen ExAC gnomAD
CA205481616 rs143227333	222	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs143227333 CA5466897	222	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs752844799 CA5466892	224	I>M		No	ClinGen ExAC TOPMed gnomAD
CA5466894 rs755377330	224	I>T		No	ClinGen ExAC gnomAD
rs777399733 CA5466895	224	I>V		No	ClinGen ExAC gnomAD
rs1588859740 CA376481186	225	G>R		No	ClinGen Ensembl
rs750880625 CA5466890	226	R>C		No	ClinGen ExAC gnomAD
CA5466889 rs201034499	226	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754150577 CA5466887	230	Q>P		No	ClinGen ExAC gnomAD
CA5466886 rs764387080	231	K>E		No	ClinGen ExAC gnomAD
CA376481096 rs1173524331	232	T>S		No	ClinGen gnomAD
rs1032055908 CA205481571	234	G>D		No	ClinGen TOPMed
rs1371787655 CA376481081	235	R>G		No	ClinGen gnomAD
CA376481067 rs866118992	237	R>P		No	ClinGen TOPMed gnomAD
CA205481567 rs866118992	237	R>Q		No	ClinGen TOPMed gnomAD
TCGA novel	239	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM917837 CA5466884 rs775178016	240	S>L	endometrium Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM3397100 CA205481546 COSM3397099 COSM3397101 rs866124059	241	G>D	central_nervous_system [Cosmic]	No	ClinGen cosmic curated Ensembl
CA5466881 rs146442068	242	I>S		No	ClinGen 1000Genomes ExAC gnomAD
rs375021532 CA5466880	245	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA376480989 rs1434061744	248	Y>H		No	ClinGen gnomAD
CA5466879 rs748767291	249	T>S		No	ClinGen ExAC gnomAD
rs747799575 CA5466877	251	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1300083541 CA376480926	252	A>T		No	ClinGen TOPMed gnomAD
CA5466875 rs780290010	252	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA376480895 rs1335290470	254	A>T		No	ClinGen gnomAD
CA376480853 rs1588859403	256	E>G		No	ClinGen Ensembl
TCGA novel	256	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376480801 rs1473029523	260	A>T		No	ClinGen TOPMed
rs1478416024 CA376480749	263	S>C		No	ClinGen TOPMed gnomAD
CA376480751 rs1478416024	263	S>G		No	ClinGen TOPMed gnomAD
CA5466873 rs750955267	265	L>S		No	ClinGen ExAC gnomAD
rs779527944 CA376480688	266	Q>H		No	ClinGen ExAC gnomAD
RCV000964200 rs113722704 CA5466871	267	S>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs997827161 CA205481450	269	V>I		No	ClinGen Ensembl
CA376480612 rs1212018208	271	E>G		No	ClinGen gnomAD
TCGA novel	272	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376480602 rs1435819505	272	D>N		No	ClinGen gnomAD
CA205480455 rs1019886408	276	M>V		No	ClinGen Ensembl
CA376480363 rs1319109330	280	G>C		No	ClinGen Ensembl
CA376480355 rs1371435295	281	M>T		No	ClinGen gnomAD
CA376480359 rs1230311035	281	M>V		No	ClinGen gnomAD
CA376480344 rs1309002041	282	E>D		No	ClinGen gnomAD
TCGA novel	282	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	285	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767749031 CA5466848	285	E>K		No	ClinGen ExAC gnomAD
CA5466847 rs577020617	286	I>S		No	ClinGen 1000Genomes ExAC gnomAD
rs751394461 CA5466846	287	H>N		No	ClinGen ExAC gnomAD
rs1350006225 CA376480315	287	H>R		No	ClinGen gnomAD
CA5466845 rs766125758	288	S>F		No	ClinGen ExAC gnomAD
rs764772224 CA5466842	289	D>E		No	ClinGen ExAC gnomAD
rs773080378 CA205480427	289	D>H		No	ClinGen ExAC TOPMed gnomAD
rs773080378 CA5466843	289	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1243963204 CA376480294	290	Q>H		No	ClinGen TOPMed
rs761386013 CA5466841	291	I>F		No	ClinGen ExAC gnomAD
rs1250882679 CA376480285	292	T>A		No	ClinGen gnomAD
CA205480416 COSM427516 rs1047454308	293	A>V	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA5466840 rs776208797	295	S>C		No	ClinGen ExAC gnomAD
CA5466838 rs746578622	299	T>I		No	ClinGen ExAC TOPMed gnomAD
rs746578622 CA205480392	299	T>N		No	ClinGen ExAC TOPMed gnomAD
rs985863213 CA205480387	301	W>L		No	ClinGen TOPMed
CA5466837 rs774889924	305	R>C		No	ClinGen ExAC gnomAD
rs1174102640 CA376480196	305	R>H		No	ClinGen TOPMed
rs771374851 CA5466836	307	R>C		No	ClinGen ExAC TOPMed gnomAD
CA376480187 rs749859903	307	R>H		No	ClinGen ExAC gnomAD
CA5466835 rs749859903	307	R>L		No	ClinGen ExAC gnomAD
rs771374851 CA376480189	307	R>S		No	ClinGen ExAC TOPMed gnomAD
rs930398633 CA205480379	310	Y>H		No	ClinGen TOPMed gnomAD
TCGA novel	311	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778394341 CA5466834	311	P>S		No	ClinGen ExAC gnomAD
rs748245414 CA5466832	312	E>G		No	ClinGen ExAC gnomAD
rs1359535322 CA376480121	317	P>H		No	ClinGen gnomAD
rs779844067 CA5466830 CA376480117	318	G>R		No	ClinGen ExAC TOPMed gnomAD
CA376480111 rs1393110479	319	E>Q		No	ClinGen TOPMed gnomAD
CA376480080 rs1427093763	323	R>Q		No	ClinGen TOPMed gnomAD
rs751737800 CA5466829	324	E>D		No	ClinGen ExAC gnomAD
TCGA novel	329	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376475776 rs1254302895	332	L>V		No	ClinGen TOPMed
rs747418517 COSM917835 CA5466765	334	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs754511946 CA5466764	334	R>H		No	ClinGen ExAC TOPMed gnomAD
rs747418517 CA205453765	334	R>S		No	ClinGen ExAC TOPMed gnomAD
CA5466762 rs765938650	336	V>L		No	ClinGen ExAC gnomAD
rs367928513 CA5466761	337	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA5466759 rs142121081	337	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5466760 rs142121081	337	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA205453696 rs761164757	338	A>S		No	ClinGen Ensembl
rs553769055 COSM917834 CA5466756	340	G>R	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA376475719 rs200760101	342	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5466753 rs771071490	344	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs773170786 CA5466751	345	I>T		No	ClinGen ExAC TOPMed gnomAD
CA376475693 rs1385898695	347	K>E		No	ClinGen TOPMed
CA5466749 rs748142955	347	K>N		No	ClinGen ExAC gnomAD
TCGA novel	349	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1475387169 CA376475675	349	T>S		No	ClinGen TOPMed gnomAD
CA5466747 rs754598313	351	K>R		No	ClinGen ExAC gnomAD
CA376475611 rs1237897247	354	Y>C		No	ClinGen gnomAD
TCGA novel	355	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs571665973 CA5466745	355	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA5466744 rs374630762	357	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs149966206 CA5466743	359	K>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs139187411 CA376475509	360	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs756440174 CA5466741	361	D>H		No	ClinGen ExAC TOPMed gnomAD
CA376475500 rs756440174	361	D>N		No	ClinGen ExAC TOPMed gnomAD
CA376475425 rs1355895172	364	S>P		No	ClinGen gnomAD
rs1019923273 CA205453624	365	N>D		No	ClinGen Ensembl
CA205453613 rs776033868	365	N>S		No	ClinGen TOPMed
CA5466738 COSM1702248 COSM1702247 COSM1702246 rs370551432	366	G>R	skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA205453594 rs911784141	368	D>E		No	ClinGen TOPMed
TCGA novel	369	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376475307 rs1478923374	369	W>G		No	ClinGen TOPMed
rs199673539 CA5466737	370	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA5466736 rs766440717	371	T>A		No	ClinGen ExAC gnomAD
rs530168426 CA5466735	371	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA5466734 rs773543182	372	I>V		No	ClinGen ExAC gnomAD
rs945004288 CA205453547	375	G>E		No	ClinGen TOPMed
COSM3415000 COSM3415002 rs769749073 CA5466733 COSM3415001	376	N>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1413987416 CA376475091	377	K>N		No	ClinGen gnomAD
CA376475071 rs1164817714	378	P>L		No	ClinGen TOPMed gnomAD
CA376475074 rs1164817714	378	P>R		No	ClinGen TOPMed gnomAD
CA376475051 rs1379433473	379	V>A		No	ClinGen gnomAD
CA5466732 rs747948664	379	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA376473929 rs1196047532	382	Q>P		No	ClinGen TOPMed
rs762065562 CA5466713	384	N>K		No	ClinGen ExAC gnomAD
rs776602965 CA5466712	385	T>P		No	ClinGen ExAC gnomAD
CA376473908 rs1564396339	385	T>S		No	ClinGen Ensembl
rs775470113 CA5466709	388	T>S		No	ClinGen ExAC TOPMed gnomAD
CA376473882 rs771549854	389	D>E		No	ClinGen ExAC gnomAD
rs745371202 CA5466707	390	V>I		No	ClinGen ExAC gnomAD
rs1414962803 CA376473867	392	V>F		No	ClinGen gnomAD
CA376473827 rs1427139883	398	P>L		No	ClinGen TOPMed
CA205450114 rs1048916730	398	P>S		No	ClinGen Ensembl
CA5466704 rs748899944	400	I>T		No	ClinGen ExAC gnomAD
CA376473818 rs1476965621	400	I>V		No	ClinGen gnomAD
rs781431241 CA5466703	401	T>I		No	ClinGen ExAC gnomAD
TCGA novel	402	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5466702 rs755346095	402	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs199724457 CA205450078	404	V>I		No	ClinGen Ensembl
CA5466701 rs752043800	405	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs750540463 CA5466698	409	A>E		No	ClinGen ExAC gnomAD
rs758460720 CA5466699	409	A>T		No	ClinGen ExAC gnomAD
CA205450074 rs866775479	412	E>K		No	ClinGen Ensembl
TCGA novel CA205450067 rs1004627552	413	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed NCI-TCGA
CA5466695 rs754093395	415	I>T		No	ClinGen ExAC gnomAD
rs762153303 CA5466696	415	I>V		No	ClinGen ExAC gnomAD
rs369312020 CA5466693	416	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA376473655 rs1295915647	416	S>P		No	ClinGen TOPMed
rs369312020 CA5466694	416	S>Y		No	ClinGen ESP ExAC gnomAD
rs576366181 CA205450046	417	M>V		No	ClinGen gnomAD
CA376473607 rs1430431200	419	F>L		No	ClinGen TOPMed
CA376473605 rs1430431200	419	F>V		No	ClinGen TOPMed
rs775349899 CA5466692	421	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA376473537 COSM1347665 rs1408118336	423	G>S	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1280262067 CA376473509	424	C>*		No	ClinGen TOPMed
rs1178713109 CA376473499	425	K>M		No	ClinGen TOPMed gnomAD
CA5466688 rs770379832	426	I>T		No	ClinGen ExAC gnomAD
rs748987885 CA5466687	427	T>R		No	ClinGen ExAC
CA5466673 rs767177302	429	Y>N		No	ClinGen ExAC TOPMed gnomAD
CA376472368 rs1164557074	430	P>S		No	ClinGen gnomAD
CA5466672 rs145954532	432	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA376472346 rs1441999445	433	G>V		No	ClinGen TOPMed
rs774247461 CA5466671	434	M>T		No	ClinGen ExAC gnomAD
CA5466670 rs765913209	435	L>M		No	ClinGen ExAC
CA376472326 rs1157381199	436	G>V		No	ClinGen TOPMed
CA376472320 rs1238266451	437	M>I		No	ClinGen gnomAD
rs772795504 CA5466668	437	M>V		No	ClinGen ExAC gnomAD
CA376472309 rs1196962374	439	S>A		No	ClinGen TOPMed gnomAD
CA376472293 rs1487318606	442	I>F		No	ClinGen TOPMed gnomAD
CA376472282 rs1245041209	443	S>F		No	ClinGen TOPMed gnomAD
rs769495258 CA5466667	443	S>P		No	ClinGen ExAC gnomAD
CA5466665 rs775948593	447	I>L		No	ClinGen ExAC
CA5466664 rs199883581	448	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA376472238 rs1564388510	448	T>I		No	ClinGen Ensembl
CA5466663 rs375128788	453	G>E		No	ClinGen ESP ExAC gnomAD
rs779560935 CA376472159	454	D>N		No	ClinGen ExAC TOPMed gnomAD
rs779560935 CA5466662	454	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA376472082 rs1302091427	458	M>I		No	ClinGen gnomAD
CA376472089 rs1425527048	458	M>T		No	ClinGen gnomAD
rs529636463 CA5466660	458	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs777648377 CA5466659	459	P>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	461	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376472007 rs1240303141	463	R>C		No	ClinGen TOPMed gnomAD
COSM1217847 CA376472005 rs1246937435	463	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA5466658 rs200660300	464	L>R		No	ClinGen 1000Genomes ExAC gnomAD
rs540725422 CA5466657	465	V>I		No	ClinGen 1000Genomes ExAC
rs767349233 CA5466656	466	T>S		No	ClinGen ExAC gnomAD
rs1364837534 CA376471948	467	S>R		No	ClinGen gnomAD
rs532348709 CA5466655	468	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA5466654 rs751563527	468	R>H		No	ClinGen ExAC gnomAD
CA205442914 rs1057331807	472	A>S		No	ClinGen Ensembl
CA5466653 rs766287742	473	L>P		No	ClinGen ExAC TOPMed gnomAD
CA5466651 rs564902260	476	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA376471858 rs564902260	476	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5466650 rs564902260 COSM1347662	476	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA376471852 rs1215544814	476	A>V		No	ClinGen TOPMed gnomAD
rs1230932764 CA376471843	477	P>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA5466648 rs776118668	477	P>S		No	ClinGen ExAC gnomAD
rs1042934113 CA205442889	482	N>S		No	ClinGen gnomAD
rs759969860 CA5466646	484	W>*		No	ClinGen ExAC gnomAD
CA5466645 rs774800046	484	W>C		No	ClinGen ExAC
rs890641054 CA205442856	485	L>P		No	ClinGen TOPMed
rs376390429 CA5466642	487	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA205442813 rs771142569	487	I>T		No	ClinGen Ensembl
rs182437025 CA5466643	487	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5466641 rs769737936	488	D>H		No	ClinGen ExAC gnomAD
rs1190279010 CA376471671	489	L>V		No	ClinGen TOPMed
rs781387948 CA5466639	490	G>E		No	ClinGen ExAC TOPMed gnomAD
CA376471660 rs1160845721	490	G>R		No	ClinGen gnomAD
CA376471639 rs1564388155	491	E>G		No	ClinGen Ensembl
rs1376633400 CA376471648	491	E>K		No	ClinGen TOPMed gnomAD
rs754822166 CA5466638	493	K>R		No	ClinGen ExAC gnomAD
rs892763734 CA205442749	494	I>L		No	ClinGen TOPMed
COSM255266 rs749575467 CA5466636	495	V>M	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1447416741 CA376471541	497	G>A		No	ClinGen TOPMed gnomAD
rs1447416741 CA376471544	497	G>D		No	ClinGen TOPMed gnomAD
CA376471550 rs1192699113	497	G>S		No	ClinGen gnomAD
rs1198715278 CA376471537	498	I>L		No	ClinGen gnomAD
rs758389396 CA5466635	499	I>V		No	ClinGen ExAC TOPMed
rs764845863 CA5466633	505	H>Y		No	ClinGen ExAC gnomAD
rs1564388011 CA376471420	506	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA5466631 rs554892989	506	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA376471412 rs1276594573	507	E>K		No	ClinGen gnomAD
rs763853549 CA5466630	508	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA376471373 rs1327457530	509	K>T		No	ClinGen gnomAD
CA5466628 rs774890067	511	F>L		No	ClinGen ExAC TOPMed gnomAD
CA376471332 rs1402043333	511	F>L		No	ClinGen gnomAD
CA376471343 rs774890067	511	F>V		No	ClinGen ExAC TOPMed gnomAD
CA5466627 rs771375002	512	M>V		No	ClinGen ExAC gnomAD
rs1470644534 CA376471294	514	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1169600404 CA376471274	517	I>T		No	ClinGen gnomAD
rs763563755 CA5466626	517	I>V		No	ClinGen ExAC gnomAD
rs769982693 CA5466624	518	G>R		No	ClinGen ExAC TOPMed gnomAD
CA376471261 rs1475173245	519	Y>F		No	ClinGen TOPMed
rs543390398 CA5466621	520	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA376471239 rs1588737721	522	N>S		No	ClinGen Ensembl
rs1205457813 CA376471235	523	G>S		No	ClinGen TOPMed gnomAD
RCV000970713 CA5466619 rs117525057	524	S>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA376471157 rs1304164758	528	M>R		No	ClinGen gnomAD
CA376471164 rs1340253141	528	M>V		No	ClinGen gnomAD
CA376471125 rs1272293907	530	M>T		No	ClinGen gnomAD
COSM427514 rs1222857683 CA376471114	531	D>N	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA5466616 rs778706384	532	D>E		No	ClinGen ExAC gnomAD
rs371533986 CA5466617	532	D>Y		No	ClinGen ESP ExAC gnomAD
CA376471071 rs367951672	533	S>R		No	ClinGen ESP TOPMed
rs757164139 CA5466615	535	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs763657085 CA5466614	535	R>H		No	ClinGen ExAC TOPMed gnomAD
rs763657085 CA5466613	535	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1330019086 CA376471029	537	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5466612 COSM1646301 rs760427841 COSM1646300 COSM684446	537	A>V	lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	539	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1288766705 CA376469446	541	E>D		No	ClinGen gnomAD
CA376469456 rs1282161805	541	E>K		No	ClinGen TOPMed
CA376469435 rs1203567172	542	G>A		No	ClinGen gnomAD
rs1264457405 CA376469379	543	N>S		No	ClinGen gnomAD
COSM1648688 CA5466553 COSM1648689 COSM538806 rs773082833	544	N>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	545	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1306488561 CA376469328	546	Y>D		No	ClinGen TOPMed gnomAD
CA5466552 rs769859201	546	Y>F		No	ClinGen ExAC gnomAD
rs1306488561 CA376469330	546	Y>H		No	ClinGen TOPMed gnomAD
rs201841993 CA5466551	548	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs768187031 CA5466549	551	L>V		No	ClinGen ExAC TOPMed gnomAD
CA5466546 rs757990959	552	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5466547 rs779745790	552	R>W		No	ClinGen ExAC TOPMed gnomAD
rs778076075 CA5466544	553	T>I		No	ClinGen ExAC TOPMed gnomAD
rs754210318 CA5466545	553	T>S		No	ClinGen ExAC gnomAD
CA5466543 rs756636306	554	F>L		No	ClinGen ExAC gnomAD
rs775164675 CA205437454	555	P>L		No	ClinGen gnomAD
rs190763052 CA5466542	557	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA376469177 rs190763052	557	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA5466539 rs143124682	559	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA205437389 rs374062923	560	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA5466536 rs374062923	560	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs773172539 CA5466535	560	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5466534 rs764907882	561	F>*		No	ClinGen ExAC gnomAD
rs376983601 CA5466533	561	F>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs2228637 CA5466532 VAR_046537	561	F>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1163132501 CA376469108	562	I>L		No	ClinGen gnomAD
rs1445076308 CA376469074	564	I>F		No	ClinGen TOPMed
rs1384816655 CA376469070	564	I>T		No	ClinGen TOPMed gnomAD
rs776598307 CA5466531	565	Y>H		No	ClinGen ExAC gnomAD
CA376469047 rs1389697580	566	P>T		No	ClinGen TOPMed gnomAD
CA376469029 rs1463719475	567	E>G		No	ClinGen gnomAD
rs746545228 CA5466529	567	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA205437268 rs950528977	570	T>S		No	ClinGen TOPMed
rs771747547 CA5466527	571	H>L		No	ClinGen ExAC TOPMed gnomAD
CA205437258 rs771747547	571	H>R		No	ClinGen ExAC TOPMed gnomAD
CA5466525 rs778160256	573	G>R		No	ClinGen ExAC TOPMed gnomAD
rs569952285 CA5466524	574	L>V		No	ClinGen ExAC TOPMed gnomAD
CA376468757 rs61760419	580	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	584	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376468689 rs1457045538	584	E>K		No	ClinGen TOPMed
CA5466518 rs758712396	585	V>A		No	ClinGen ExAC TOPMed gnomAD
CA376468667 rs758712396	585	V>G		No	ClinGen ExAC TOPMed gnomAD
rs750648742 CA5466517	587	A>T		No	ClinGen ExAC gnomAD
rs754732280 CA5466438	587	A>V		No	ClinGen ExAC TOPMed gnomAD
rs371858943 CA205475532	588	P>S		No	ClinGen Ensembl
CA205475524 rs568996715 COSM211484	590	A>P	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs568996715 CA376479657	590	A>T		No	ClinGen TOPMed gnomAD
CA5466437 rs747034072	591	G>E		No	ClinGen ExAC gnomAD
rs201038869 CA205475512	592	P>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA376479643 rs201038869	592	P>Q		No	ClinGen 1000Genomes TOPMed gnomAD
CA376479645 rs1588712985	592	P>S		No	ClinGen Ensembl
rs377066073 CA5466435	594	T>I		No	ClinGen ESP ExAC gnomAD
rs147055093 CA376479619	596	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1428559055 CA376479616	597	G>E		No	ClinGen TOPMed gnomAD
rs141633354 COSM917829 CA205475480 CA5466433	597	G>R	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
TCGA novel	598	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5466432 rs148041491	599	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs554875974 CA5466430	600	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA376479598 rs1564376671	600	V>M		No	ClinGen Ensembl
TCGA novel	602	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs890907414 CA5466427	603	C>W		No	ClinGen TOPMed gnomAD
rs1164063912 CA376479566	604	D>V		No	ClinGen TOPMed
CA376479556 rs148913335	605	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA5466425 rs766803868	606	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA376479544 rs1430430503	607	Q>R		No	ClinGen gnomAD
TCGA novel	608	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5466423 rs773185314	609	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1485190718 CA376479524	610	C>Y		No	ClinGen gnomAD
CA5466421 rs776830169	612	S>C		No	ClinGen ExAC TOPMed gnomAD
CA5466420 rs776830169	612	S>G		No	ClinGen ExAC TOPMed gnomAD
CA5466419 rs768496698	613	G>E		No	ClinGen ExAC gnomAD
rs374297417 CA205475410	616	D>G		No	ClinGen ESP TOPMed
CA376479464 rs1183541610	618	F>L		No	ClinGen TOPMed gnomAD
CA376479468 rs1349348397	618	F>V		No	ClinGen TOPMed
rs746791525 CA5466418	619	Q>H		No	ClinGen ExAC gnomAD
rs747818891 CA5466375	622	G>D		No	ClinGen ExAC gnomAD
rs1453286273 CA376478050	626	V>A		No	ClinGen gnomAD
rs750790418 CA5466373	626	V>L		No	ClinGen ExAC TOPMed gnomAD
rs750790418 CA5466372	626	V>M		No	ClinGen ExAC TOPMed gnomAD
CA376478044 rs1588701670	627	L>R		No	ClinGen Ensembl
TCGA novel	630	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201288994 CA5466371	633	T>M		No	ClinGen ExAC TOPMed gnomAD
CA5466370 rs757782302	634	V>I		No	ClinGen ExAC gnomAD
rs563594298 CA5466369	635	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs550087163 CA205471733	635	I>V		No	ClinGen Ensembl
rs145594886 CA5466368	636	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA376477981 rs1488877452	637	S>R		No	ClinGen TOPMed gnomAD
rs752665390 CA5466366	641	S>P		No	ClinGen ExAC gnomAD
rs1301385201 CA376477911	643	F>V		No	ClinGen TOPMed gnomAD
rs1447492538 CA376477895	645	T>A		No	ClinGen gnomAD
CA5466295 rs770248476	646	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA376477850 rs1379231419	651	E>A		No	ClinGen TOPMed
CA376477820 rs1564367099	655	G>D		No	ClinGen Ensembl
TCGA novel	656	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777065128 CA5466293	659	T>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	660	F>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1450856854 CA376477789	660	F>I		No	ClinGen gnomAD
CA376477781 rs1367824389	661	C>R		No	ClinGen TOPMed
CA205468094 rs200822773	668	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1239008699 CA376477714	669	V>G		No	ClinGen gnomAD
rs529913964 CA5466289	669	V>L		No	ClinGen ExAC TOPMed gnomAD
CA205468086 rs936954579	670	Q>K		No	ClinGen TOPMed
rs1202125848 CA376477709	670	Q>L		No	ClinGen gnomAD
rs1341153445 CA376477706	671	L>F		No	ClinGen gnomAD
CA376477703 rs1422090938	671	L>H		No	ClinGen gnomAD
rs926957972 CA205468081	674	S>N		No	ClinGen Ensembl
CA376477645 rs1230520956	679	K>R		No	ClinGen gnomAD
rs1344416935 CA376477641	680	T>A		No	ClinGen gnomAD
rs779018926 CA5466287	680	T>M		No	ClinGen ExAC TOPMed gnomAD
CA376477627 rs1246960150	682	P>H		No	ClinGen TOPMed
CA376477604 rs1298873373	685	D>V		No	ClinGen Ensembl
rs146457862 CA5466260	691	N>S		No	ClinGen ESP ExAC gnomAD
rs1014613111 CA205464763	694	Y>F		No	ClinGen TOPMed gnomAD
CA5466258 rs374499493	695	S>Y		No	ClinGen ESP ExAC gnomAD
CA205464751 rs775930939	698	D>E		No	ClinGen ExAC gnomAD
CA5466255 rs139081795 COSM1702245	699	E>K	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA376477114 rs1456408688	700	N>S		No	ClinGen gnomAD
rs1303790632 CA376477108	701	Q>P		No	ClinGen TOPMed
CA205464749 rs530474285	702	K>N		No	ClinGen TOPMed
CA5466254 rs760041017	704	K>E		No	ClinGen ExAC gnomAD
CA376477079 rs1160900157	705	V>A		No	ClinGen TOPMed gnomAD
CA5466253 rs774346921	706	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1376849398 CA376477070	707	R>C		No	ClinGen gnomAD
CA5466251 rs150891261	707	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA205464735 rs150891261	707	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5466252 rs150891261	707	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA5466250 rs773413750	708	L>P		No	ClinGen ExAC gnomAD
CA376477063 rs1186703492	709	V>G		No	ClinGen gnomAD
CA5466249 CA205464717 rs747937442	709	V>L		No	ClinGen ExAC gnomAD
CA5466248 rs747937442	709	V>M		No	ClinGen ExAC gnomAD
rs1464471836 CA376477053	711	P>A		No	ClinGen TOPMed gnomAD
rs1464471836 CA376477052	711	P>S		No	ClinGen TOPMed gnomAD
CA5466247 rs780997720	713	V>I		No	ClinGen ExAC gnomAD
rs746941565 CA5466245	718	S>P		No	ClinGen ExAC gnomAD
CA376477007 rs746941565	718	S>T		No	ClinGen ExAC gnomAD
COSM917825 CA5466244 rs779467840	719	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1244672329 CA376476993	720	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA205464681 rs1015836785	722	M>L		No	ClinGen TOPMed gnomAD
CA376476981 rs1015836785	722	M>V		No	ClinGen TOPMed gnomAD
rs1433776872 CA376476970	723	T>N		No	ClinGen gnomAD
TCGA novel	724	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1365277992 CA376476940	727	H>Y		No	ClinGen gnomAD
CA376476925 rs1182856724	729	S>T		No	ClinGen TOPMed
CA5466243 rs757977129	731	S>F		No	ClinGen ExAC TOPMed gnomAD
rs376053165 CA5466241	732	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs750158069 CA5466242	732	H>R		No	ClinGen ExAC TOPMed gnomAD
CA5466239 rs2228638 VAR_056957	733	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5466238 rs767902777	734	G>S		No	ClinGen ExAC TOPMed gnomAD
rs760005002 CA5466237	734	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs766507281 CA5466235	735	T>I		No	ClinGen ExAC gnomAD
CA205464661 rs944958142	741	R>C		No	ClinGen TOPMed
CA5466233 rs554872876	741	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA376476851 rs1433051547	742	Y>H		No	ClinGen TOPMed
rs1027702130 CA205464650	746	E>K		No	ClinGen Ensembl
CA376476808 rs1350476471	747	E>D		No	ClinGen gnomAD
CA5466231 rs566477081	749	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA376476798 rs566477081	749	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA5466230 rs374865894	750	Q>P		No	ClinGen ESP ExAC gnomAD
CA5466228 rs746985525	752	V>F		No	ClinGen ExAC gnomAD
CA5466229 rs746985525	752	V>I		No	ClinGen ExAC gnomAD
rs780027653 CA5466227	754	M>I		No	ClinGen ExAC TOPMed gnomAD
CA205464587 rs1014030560	756	I>M		No	ClinGen gnomAD
CA5466226 rs772069753	756	I>T		No	ClinGen ExAC TOPMed gnomAD
CA5466225 rs745403355	759	Q>E		No	ClinGen ExAC gnomAD
TCGA novel	760	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA205464562 rs370641686	760	G>D		No	ClinGen ESP TOPMed gnomAD
CA5466224 rs778519380	760	G>S		No	ClinGen ExAC gnomAD
rs924149280 CA205464558	767	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA205464554 rs148799934	767	R>H		No	ClinGen ESP TOPMed gnomAD
rs891653165 CA205464550	771	H>R		No	ClinGen Ensembl
CA5466223 rs757021030	772	K>E		No	ClinGen ExAC gnomAD
TCGA novel	773	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5466222 rs753501647	774	L>P		No	ClinGen ExAC gnomAD
CA376476610 rs1409925844	777	Y>F		No	ClinGen gnomAD
CA376476614 rs1486897650	777	Y>H		No	ClinGen gnomAD
rs775108406 CA5466210	779	V>L		No	ClinGen ExAC gnomAD
CA376476522 rs1235145790	783	G>D		No	ClinGen gnomAD
COSM1217846 rs373328655 CA5466206	784	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA gnomAD
rs777499693 CA5466204	786	G>R	Variant assessed as Somatic; 0.0001848 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5466202 rs148330417 COSM108553	788	G>E	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	790	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5466200 rs550284385	791	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5466199 rs370117610	791	G>D		No	ClinGen ESP ExAC gnomAD
CA376476417 rs550284385	791	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA376476372 rs1330613852	795	V>M		No	ClinGen gnomAD
CA5466197 rs757346128	797	D>H		No	ClinGen ExAC gnomAD
TCGA novel	797	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376476306 rs1283585996	799	S>N		No	ClinGen TOPMed
CA376476255 rs1346992017	802	N>K		No	ClinGen TOPMed
rs753801764 CA5466196	803	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA5466195 rs764409827	804	I>L		No	ClinGen ExAC gnomAD
CA376476196 rs760760392	806	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA5466193 rs775477172	807	E>A		No	ClinGen ExAC gnomAD
CA376476140 rs1477961818	810	A>V		No	ClinGen gnomAD
TCGA novel	816	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867510670 CA205462321	817	K>N		No	ClinGen Ensembl
rs764058650 CA5466178 COSM917822	818	K>N	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA376475887 rs1447208247	818	K>Q		No	ClinGen TOPMed gnomAD
rs1188820892 CA376475879	819	N>D		No	ClinGen gnomAD
rs1188820892 CA376475878	819	N>Y		No	ClinGen gnomAD
rs1381061538 CA376475869	820	P>L		No	ClinGen TOPMed
CA5466177 rs756401925	820	P>T		No	ClinGen ExAC gnomAD
rs1235553581 CA376475865	821	E>*		No	ClinGen gnomAD
CA205462303 rs972629078	822	I>L		No	ClinGen TOPMed
CA376475859 rs972629078	822	I>V		No	ClinGen TOPMed
rs201570278 CA5466176	824	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5466175 rs767480570	825	D>G		No	ClinGen ExAC gnomAD
TCGA novel	826	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5466174 rs759421479	827	T>R		No	ClinGen ExAC gnomAD
CA205460860 rs373182746	828	G>A		No	ClinGen Ensembl
CA5466151 rs750320738	830	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1257885477 CA376475404	832	G>E		No	ClinGen TOPMed gnomAD
CA376475374 rs150351789	834	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs936099600 CA205460857	834	E>D		No	ClinGen gnomAD
CA5466147 RCV000900265 rs150351789	834	E>K		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA376475350 rs1564358248	835	G>D		No	ClinGen Ensembl
rs760298219 CA5466146 COSM1297221	836	E>K	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA5466145 rs774819716	838	E>K		No	ClinGen ExAC gnomAD
CA5466144 rs771196307	839	G>C		No	ClinGen ExAC gnomAD
rs771196307 CA376475286	839	G>R		No	ClinGen ExAC gnomAD
CA376475268 rs1252527101	840	D>G		No	ClinGen TOPMed gnomAD
rs540022294 CA5466143	840	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1252527101 CA376475266	840	D>V		No	ClinGen TOPMed gnomAD
TCGA novel	841	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs940939644 CA205460845	843	I>T		No	ClinGen TOPMed gnomAD
CA5466141 rs770361179	843	I>V		No	ClinGen ExAC gnomAD
CA376475191 rs1221143595	844	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs781376715 CA5466139	846	K>M		No	ClinGen ExAC TOPMed gnomAD
rs755296281 CA5466138	846	K>N		No	ClinGen ExAC gnomAD
rs568761627 CA205460820	847	P>A		No	ClinGen TOPMed gnomAD
rs774860746 CA5466137	848	G>D		No	ClinGen ExAC TOPMed gnomAD
rs200321543 CA205460801	849	N>D		No	ClinGen 1000Genomes
rs1048803 CA5466133	855	D>E		No	ClinGen ExAC gnomAD
CA5466132 rs761698307	856	P>T		No	ClinGen ExAC TOPMed gnomAD
CA5466131 rs144845322	857	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1454993218 CA376474977	857	I>V		No	ClinGen TOPMed
rs760388137 CA5466129	859	I>L		No	ClinGen ExAC TOPMed gnomAD
CA5466128 rs774993945	860	T>S		No	ClinGen ExAC gnomAD
CA5466127 rs767142032	861	I>V		No	ClinGen ExAC TOPMed gnomAD
rs763234318 CA376474913	862	I>L		No	ClinGen ExAC TOPMed gnomAD
rs763234318 CA5466126	862	I>V		No	ClinGen ExAC TOPMed gnomAD
CA5466123 rs748639459	866	A>D		No	ClinGen ExAC
rs548175518 CA5466124	866	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	867	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376474844 rs1255187775	869	V>I		No	ClinGen gnomAD
TCGA novel	869	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768849994 CA5466121	870	L>F		No	ClinGen ExAC gnomAD
CA376474821 rs1310915221	873	A>T		No	ClinGen gnomAD
CA5466118 rs567261830	874	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA376474816 rs567261830	874	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs142822518 CA5466117	875	C>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1588673283 CA376474795	877	V>A		No	ClinGen Ensembl
rs778630230 CA5466116	877	V>F		No	ClinGen ExAC TOPMed gnomAD
CA376474798 rs778630230	877	V>I		No	ClinGen ExAC TOPMed gnomAD
CA5466112 rs566437913	878	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5466113 rs200330871	878	V>M	Variant assessed as Somatic; 0.000231 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1239752717 CA376474775	881	C>R		No	ClinGen TOPMed
rs551199073 CA5466111	881	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA376474765 rs1377047297	882	A>D		No	ClinGen TOPMed gnomAD
CA5466110 COSM325978 rs767109785	883	C>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1454813225 CA376474752	884	W>*		No	ClinGen gnomAD
rs1186925076 CA376474743	885	H>R		No	ClinGen gnomAD
rs1396890390 CA376474745	885	H>Y		No	ClinGen gnomAD
rs532941278 CA205460709	886	N>K		No	ClinGen 1000Genomes gnomAD
rs143988888 CA5466108	886	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA376474722 rs1588673153	888	M>I		No	ClinGen Ensembl
CA5466106 rs762474175	888	M>L		No	ClinGen ExAC gnomAD
rs1015021561 CA205460692	889	S>P		No	ClinGen gnomAD
rs777261396 CA5466105	897	E>Q		No	ClinGen ExAC gnomAD
rs887531204 CA205460662	898	N>S		No	ClinGen Ensembl
CA5466104 rs769226149	899	Y>C		No	ClinGen ExAC gnomAD
rs967172509 CA205460637	903	L>R		No	ClinGen TOPMed
CA376474555 rs1433057157	905	D>G		No	ClinGen gnomAD
CA5466102 rs775598824	909	L>W		No	ClinGen ExAC gnomAD
CA376474467 rs1394130158	912	D>G		No	ClinGen gnomAD
CA5466101 rs772205833	914	L>R		No	ClinGen ExAC gnomAD
rs746072156 CA5466100	915	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1158664603 CA376474397 COSM917821	917	Q>H	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs778746900 CA5466099	918	S>R		No	ClinGen ExAC gnomAD
rs1588672998 CA376474372	919	T>S		No	ClinGen Ensembl
CA376474349 rs1265772039	921	S>*		No	ClinGen TOPMed
rs749026902 CA5466097	923	A>S		No	ClinGen ExAC TOPMed

No associated diseases with O14786

6 regional properties for O14786

Type	Name	Position	InterPro Accession
domain	Coagulation factor 5/8 C-terminal domain	274 - 424	IPR000421-1
domain	Coagulation factor 5/8 C-terminal domain	430 - 583	IPR000421-2
domain	CUB domain	27 - 141	IPR000859-1
domain	CUB domain	147 - 265	IPR000859-2
domain	MAM domain	645 - 811	IPR000998
domain	Neuropilin, C-terminal	845 - 923	IPR022579

Functions

		Description
EC Number
Subcellular Localization	[Isoform 2]: Secreted ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

16 GO annotations of cellular component

Name	Definition
axon	The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.
cytoplasmic vesicle	A vesicle found in the cytoplasm of a cell.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
early endosome	A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways.
extracellular space	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
glutamatergic synapse	A synapse that uses glutamate as a neurotransmitter.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
integral component of postsynaptic membrane	The component of the postsynaptic membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
mitochondrial membrane	Either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope.
neurofilament	A type of intermediate filament found in the core of neuronal axons. Neurofilaments are heteropolymers composed of three type IV polypeptides: NF-L, NF-M, and NF-H (for low, middle, and high molecular weight). Neurofilaments are responsible for the radial growth of an axon and determine axonal diameter.
neuron projection	A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
receptor complex	Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
semaphorin receptor complex	A stable binary complex of a neurophilin and a plexin, together forming a functional semaphorin receptor.
sorting endosome	A multivesicular body surrounded by and connected with multiple tubular compartments with associated vesicles.

11 GO annotations of molecular function

Name	Definition
coreceptor activity	Combining with an extracellular or intracellular messenger, and in cooperation with a nearby primary receptor, initiating a change in cell activity.
cytokine binding	Binding to a cytokine, any of a group of proteins that function to control the survival, growth and differentiation of tissues and cells, and which have autocrine and paracrine activity.
growth factor binding	Binding to a growth factor, proteins or polypeptides that stimulate a cell or organism to grow or proliferate.
GTPase activator activity	Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.
heparin binding	Binding to heparin, a member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues.
metal ion binding	Binding to a metal ion.
protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
semaphorin receptor activity	Combining with a semaphorin, and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity.
signaling receptor activity	Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response.
vascular endothelial growth factor binding	Binding to a vascular endothelial growth factor.
vascular endothelial growth factor receptor activity	Combining with a vascular endothelial growth factor (VEGF) receptor ligand and transmitting the signal across the plasma membrane to initiate a change in cell activity.

89 GO annotations of biological process

Name	Definition
actin cytoskeleton reorganization	A process that is carried out at the cellular level which results in dynamic structural changes to the arrangement of constituent parts of cytoskeletal structures comprising actin filaments and their associated proteins.
angiogenesis	Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.
angiogenesis involved in coronary vascular morphogenesis	Blood vessel formation in the heart when new vessels emerge from the proliferation of pre-existing blood vessels.
animal organ morphogenesis	Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions.
artery morphogenesis	The process in which the anatomical structures of arterial blood vessels are generated and organized. Arteries are blood vessels that transport blood from the heart to the body and its organs.
axon extension involved in axon guidance	The long distance growth of a single cell process, that is involved in the migration of an axon growth cone, where the migration is directed to a specific target site by a combination of attractive and repulsive cues.
axon guidance	The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues.
axonal fasciculation	The collection of axons into a bundle of rods, known as a fascicle.
axonogenesis involved in innervation	The neurite development process that generates a long process of a neuron, as it invades a target tissue.
basal dendrite arborization	The process in which the anatomical structures of a dendritic tree are generated on the basal neuron side and organized into dendritic branches.
basal dendrite development	The process whose specific outcome is the progression of a basal dendrite over time, from its formation to the mature structure.
branching involved in blood vessel morphogenesis	The process of coordinated growth and sprouting of blood vessels giving rise to the organized vascular system.
branchiomotor neuron axon guidance	The process in which a branchiomotor neuron growth cone is directed to a specific target site. Branchiomotor neurons are located in the hindbrain and innervate branchial arch-derived muscles that control jaw movements, facial expression, the larynx, and the pharynx.
cell migration involved in sprouting angiogenesis	The orderly movement of endothelial cells into the extracellular matrix in order to form new blood vessels involved in sprouting angiogenesis.
cell-cell signaling	Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions.
cellular response to hepatocyte growth factor stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hepatocyte growth factor stimulus.
cellular response to vascular endothelial growth factor stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vascular endothelial growth factor stimulus.
commissural neuron axon guidance	The process in which the migration of an axon growth cone of a commissural neuron is directed to its target in the brain in response to a combination of attractive and repulsive cues.
coronary artery morphogenesis	The process in which the anatomical structures of coronary arteries are generated and organized. Coronary arteries are blood vessels that transport blood to the heart muscle.
dichotomous subdivision of terminal units involved in salivary gland branching	The process in which a salivary epithelial cord bifurcates at its end.
dorsal root ganglion morphogenesis	The developmental process by which a dorsal root ganglion is generated and organized.
endothelial cell chemotaxis	The directed movement of an endothelial cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis).
endothelial cell migration	The orderly movement of an endothelial cell into the extracellular matrix to form an endothelium.
endothelial tip cell fate specification	The process involved in the specification of identity of an endothelial tip cell. Once specification has taken place, a cell will be committed to differentiate down a specific pathway if left in its normal environment. An endothelial tip cell is a specialized endothelial cell localized to the leading edge of an angiogenic sprout that senses extracellular signals and guides the directed growth of blood vessels.
facial nerve structural organization	The process that contributes to the act of creating the structural organization of the facial nerve. This process pertains to the physical shaping of a rudimentary structure. This sensory and motor nerve supplies the muscles of facial expression and the expression and taste at the anterior two-thirds of the tongue. The principal branches are the superficial opthalmic, buccal, palatine and hyomandibular. The main trunk synapses within pterygopalatine ganglion in the parotid gland and this ganglion then gives of nerve branches which supply the lacrimal gland and the mucous secreting glands of the nasal and oral cavities.
facioacoustic ganglion development	The process whose specific outcome is the progression of an acoustico-facial VII-VIII ganglion complex over time, from its formation to the mature structure.
gonadotrophin-releasing hormone neuronal migration to the hypothalamus	The directional movement of a gonadotrophin-releasing hormone producing neuron from the nasal placode to the hypothalamus.
hepatocyte growth factor receptor signaling pathway	The series of molecular signals initiated by a ligand binding to a hepatocyte growth factor receptor, and ending with the regulation of a downstream cellular process, e.g. transcription.
integrin-mediated signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to an integrin on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
motor neuron migration	The orderly movement of a motor neuron from one site to another. A motor neuron is an efferent neuron that passes from the central nervous system or a ganglion toward or to a muscle and conducts an impulse that causes movement.
negative regulation of axon extension involved in axon guidance	Any process that stops, prevents, or reduces the frequency, rate or extent of axon extension involved in axon guidance.
negative regulation of extrinsic apoptotic signaling pathway	Any process that stops, prevents or reduces the frequency, rate or extent of extrinsic apoptotic signaling pathway.
negative regulation of neuron apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process in neurons.
nerve development	The process whose specific outcome is the progression of a nerve over time, from its formation to the mature structure.
neural crest cell migration	The characteristic movement of cells from the dorsal ridge of the neural tube to a variety of locations in a vertebrate embryo.
neural crest cell migration involved in autonomic nervous system development	Any neural crest cell migration that is involved in autonomic nervous system development.
neuron migration	The characteristic movement of an immature neuron from germinal zones to specific positions where they will reside as they mature.
neuropilin signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to a neuropilin protein on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
otic placode development	The process whose specific outcome is the progression of an otic placode over time, from its formation to the mature structure.
outflow tract septum morphogenesis	The process in which the anatomical structures of the outflow tract septum are generated and organized. The outflow tract septum is a partition in the outflow tract.
platelet-derived growth factor receptor signaling pathway	The series of molecular signals initiated by a ligand binding to a platelet-derived growth factor receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
positive chemotaxis	The directed movement of a motile cell or organism towards a higher concentration of a chemical.
positive regulation of actin cytoskeleton reorganization	Any process that activates or increases the frequency, rate or extent of actin cytoskeleton reorganization.
positive regulation of angiogenesis	Any process that activates or increases angiogenesis.
positive regulation of axon extension involved in axon guidance	Any process that activates, maintains or increases the frequency, rate or extent of axon extension involved in axon guidance.
positive regulation of cell migration involved in sprouting angiogenesis	Any process that increases the frequency, rate or extent of cell migration involved in sprouting angiogenesis. Cell migration involved in sprouting angiogenesis is the orderly movement of endothelial cells into the extracellular matrix in order to form new blood vessels contributing to the process of sprouting angiogenesis.
positive regulation of cytokine activity	Any process that increases the rate, frequency or extent of the activity of a molecule that controls the survival, growth, differentiation and effector function of tissues and cells.
positive regulation of endothelial cell migration	Any process that increases the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium.
positive regulation of endothelial cell proliferation	Any process that activates or increases the rate or extent of endothelial cell proliferation.
positive regulation of ERK1 and ERK2 cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
positive regulation of filopodium assembly	Any process that activates or increases the frequency, rate or extent of 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 focal adhesion assembly	Any process that activates or increases the frequency, rate or extent of focal adhesion assembly, the establishment and maturation of focal adhesions.
positive regulation of peptidyl-tyrosine phosphorylation	Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine.
positive regulation of phosphorylation	Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to a molecule.
positive regulation of retinal ganglion cell axon guidance	Any process that activates or increases the frequency, rate or extent of retinal ganglion cell axon guidance.
positive regulation of smooth muscle cell migration	Any process that activates, maintains or increases the frequency, rate or extent of smooth muscle cell migration.
positive regulation of stress fiber assembly	Any process that activates or increases the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts.
positive regulation of substrate adhesion-dependent cell spreading	Any process that activates or increases the frequency, rate or extent of substrate adhesion-dependent cell spreading.
postsynapse organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a postsynapse.
protein localization to early endosome	A process in which a protein is transported to, or maintained in, a location within an early endosome.
regulation of Cdc42 protein signal transduction	Any process that modulates the frequency, rate or extent of Cdc42 protein signal transduction.
regulation of retinal ganglion cell axon guidance	Any process that modulates the frequency, rate, or extent of retinal ganglion cell axon guidance, the process in which the migration of an axon growth cone of a retinal ganglion cell (RGC) is directed to its target in the brain in response to a combination of attractive and repulsive cues.
regulation of vascular endothelial growth factor receptor signaling pathway	Any process that modulates the frequency, rate or extent of vascular endothelial growth factor receptor signaling pathway activity.
regulation of vesicle-mediated transport	Any process that modulates the rate, frequency, or extent of vesicle-mediated transport, the directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell.
renal artery morphogenesis	The process in which the anatomical structure of a renal artery is generated and organized. Renal arteries supply the kidneys with blood.
response to wounding	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 stimulus indicating damage to the organism.
retina vasculature morphogenesis in camera-type eye	The process in which the vasculature of the retina is generated and organized.
retinal ganglion cell axon guidance	The process in which the migration of an axon growth cone of a retinal ganglion cell (RGC) is directed to its target in the brain in response to a combination of attractive and repulsive cues.
semaphorin-plexin signaling pathway	The series of molecular signals generated as a consequence of a semaphorin receptor (composed of a plexin and a neurophilin) binding to a semaphorin ligand.
semaphorin-plexin signaling pathway involved in axon guidance	Any semaphorin-plexin signaling pathway that is involved in axon guidance.
semaphorin-plexin signaling pathway involved in neuron projection guidance	Any semaphorin-plexin signaling pathway that is involved in neuron projection guidance.
sensory neuron axon guidance	The process in which the migration of an axon growth cone of a sensory neuron is directed to a specific target site in response to a combination of attractive and repulsive cues. A sensory neuron is an afferent neuron conveying sensory impulses.
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.
sprouting angiogenesis	The extension of new blood vessels from existing vessels into avascular tissues, this process includes the specialization of endothelial cells into leading tip and stalk cells, proliferation and migration of the endothelial cells and cell adhesion resulting in angiogenic sprout fusion or lumen formation.
substrate adhesion-dependent cell spreading	The morphogenetic process that results in flattening of a cell as a consequence of its adhesion to a substrate.
substrate-dependent cell migration, cell extension	The formation of a cell surface protrusion, such as a lamellipodium or filopodium, at the leading edge of a migrating cell.
sympathetic ganglion development	The process whose specific outcome is the progression of a sympathetic ganglion over time, from its formation to the mature structure.
sympathetic neuron projection extension	Long distance growth of a single sympathetic neuron projection involved in cellular development. A neuron projection is a prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
sympathetic neuron projection guidance	The process in which the migration of a sympathetic neuron projection is directed to a specific target site in response to a combination of attractive and repulsive cues.
toxin transport	The directed movement of a toxin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
trigeminal ganglion development	The process whose specific outcome is the progression of a trigeminal ganglion over time, from its formation to the mature structure.
trigeminal nerve structural organization	The process that contributes to the act of creating the structural organization of the oculomotor nerve. This process pertains to the physical shaping of a rudimentary structure. The trigeminal nerve is composed of three large branches. They are the ophthalmic (V1, sensory), maxillary (V2, sensory) and mandibular (V3, motor and sensory) branches. The sensory ophthalmic branch travels through the superior orbital fissure and passes through the orbit to reach the skin of the forehead and top of the head. The maxillary nerve contains sensory branches that reach the pterygopalatine fossa via the inferior orbital fissure (face, cheek and upper teeth) and pterygopalatine canal (soft and hard palate, nasal cavity and pharynx). The motor part of the mandibular branch is distributed to the muscles of mastication, the mylohyoid muscle and the anterior belly of the digastric. The mandibular nerve also innervates the tensor veli palatini and tensor tympani muscles. The sensory part of the mandibular nerve is composed of branches that carry general sensory information from the mucous membranes of the mouth and cheek, anterior two-thirds of the tongue, lower teeth, skin of the lower jaw, side of the head and scalp and meninges of the anterior and middle cranial fossae.
vascular endothelial growth factor receptor signaling pathway	The series of molecular signals initiated by a ligand binding to a vascular endothelial growth factor receptor (VEGFR) on the surface of the target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
vasculogenesis	The differentiation of endothelial cells from progenitor cells during blood vessel development, and the de novo formation of blood vessels and tubes.
VEGF-activated neuropilin signaling pathway	The series of molecular signals initiated by vascular endothelial growth factor (VEGF) binding to a neuropilin protein on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
VEGF-activated neuropilin signaling pathway involved in axon guidance	Any VEGF-activated neuropilin signaling pathway that is involved in axon guidance.
ventral trunk neural crest cell migration	The movement of trunk neural crest cells from the neural tube, travelling ventrally through the anterior half of each sclerotome. Trunk neural crest cells that remain in the sclerotome form the dorsal root ganglia containing the sensory neurons. Trunk neural crest cells that continue more ventrally form the sympathetic ganglia, the adrenal medulla, and the nerve clusters surrounding the aorta.
vestibulocochlear nerve structural organization	The process that contributes to the act of creating the structural organization of the vestibulocochlear nerve. This process pertains to the physical shaping of a rudimentary structure. This sensory nerve innervates the membranous labyrinth of the inner ear. The vestibular branch innervates the vestibular apparatus that senses head position changes relative to gravity. The auditory branch innervates the cochlear duct, which is connected to the three bony ossicles which transduce sound waves into fluid movement in the cochlea.
viral entry into host cell	The process that occurs after viral attachment by which a virus, or viral nucleic acid, breaches the plasma membrane or cell envelope and enters the host cell. The process ends when the viral nucleic acid is released into the host cell cytoplasm.

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P79795	NRP1	Neuropilin-1	Gallus gallus (Chicken)	PR
O60462	NRP2	Neuropilin-2	Homo sapiens (Human)	PR
Q96PD2	DCBLD2	Discoidin, CUB and LCCL domain-containing protein 2	Homo sapiens (Human)	PR
P97333	Nrp1	Neuropilin-1	Mus musculus (Mouse)	PR
Q9QWJ9	Nrp1	Neuropilin-1	Rattus norvegicus (Rat)	PR
Q8QFX6	nrp1a	Neuropilin-1a	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MERGLPLLCA	VLALVLAPAG	AFRNDKCGDT	IKIESPGYLT	SPGYPHSYHP	SEKCEWLIQA
70	80	90	100	110	120
PDPYQRIMIN	FNPHFDLEDR	DCKYDYVEVF	DGENENGHFR	GKFCGKIAPP	PVVSSGPFLF
130	140	150	160	170	180
IKFVSDYETH	GAGFSIRYEI	FKRGPECSQN	YTTPSGVIKS	PGFPEKYPNS	LECTYIVFVP
190	200	210	220	230	240
KMSEIILEFE	SFDLEPDSNP	PGGMFCRYDR	LEIWDGFPDV	GPHIGRYCGQ	KTPGRIRSSS
250	260	270	280	290	300
GILSMVFYTD	SAIAKEGFSA	NYSVLQSSVS	EDFKCMEALG	MESGEIHSDQ	ITASSQYSTN
310	320	330	340	350	360
WSAERSRLNY	PENGWTPGED	SYREWIQVDL	GLLRFVTAVG	TQGAISKETK	KKYYVKTYKI
370	380	390	400	410	420
DVSSNGEDWI	TIKEGNKPVL	FQGNTNPTDV	VVAVFPKPLI	TRFVRIKPAT	WETGISMRFE
430	440	450	460	470	480
VYGCKITDYP	CSGMLGMVSG	LISDSQITSS	NQGDRNWMPE	NIRLVTSRSG	WALPPAPHSY
490	500	510	520	530	540
INEWLQIDLG	EEKIVRGIII	QGGKHRENKV	FMRKFKIGYS	NNGSDWKMIM	DDSKRKAKSF
550	560	570	580	590	600
EGNNNYDTPE	LRTFPALSTR	FIRIYPERAT	HGGLGLRMEL	LGCEVEAPTA	GPTTPNGNLV
610	620	630	640	650	660
DECDDDQANC	HSGTGDDFQL	TGGTTVLATE	KPTVIDSTIQ	SEFPTYGFNC	EFGWGSHKTF
670	680	690	700	710	720
CHWEHDNHVQ	LKWSVLTSKT	GPIQDHTGDG	NFIYSQADEN	QKGKVARLVS	PVVYSQNSAH
730	740	750	760	770	780
CMTFWYHMSG	SHVGTLRVKL	RYQKPEEYDQ	LVWMAIGHQG	DHWKEGRVLL	HKSLKLYQVI
790	800	810	820	830	840
FEGEIGKGNL	GGIAVDDISI	NNHISQEDCA	KPADLDKKNP	EIKIDETGST	PGYEGEGEGD
850	860	870	880	890	900
KNISRKPGNV	LKTLDPILIT	IIAMSALGVL	LGAVCGVVLY	CACWHNGMSE	RNLSALENYN
910	920
FELVDGVKLK	KDKLNTQSTY	SEA