AiPD: Autoinhibited Protein Database

O60462

Gene name	NRP2 (VEGF165R2)
Protein name	Neuropilin-2
Names	Ly-75, C-type lectin domain family 13 member B, DEC-205, gp200-MR6, Vascular endothelial cell growth factor 165 receptor 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8828
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

265-347 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

265-347 (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

17 structures for O60462

Entry ID	Method	Resolution	Chain	Position	Source
2QQJ	X-ray	195 A	A	275-595	PDB
2QQK	X-ray	275 A	A	23-595	PDB
2QQL	X-ray	310 A	A	23-595	PDB
2QQO	X-ray	230 A	A/B	145-595	PDB
4QDQ	X-ray	195 A	A/B	276-595	PDB
4QDR	X-ray	240 A	A	276-595	PDB
4QDS	X-ray	240 A	A/B	275-457	PDB
5DN2	X-ray	195 A	A/B/C/D	275-429	PDB
5DQ0	X-ray	180 A	A	275-430	PDB
6GH8	X-ray	244 A	A/C	27-146	PDB
6TDB	X-ray	245 A	A/B/C/D	275-430	PDB
6TJT	X-ray	131 A	A/B	275-430	PDB
7M22	EM	365 A	N	23-595	PDB
7T4S	EM	310 A	F	1-864	PDB
8IVW	X-ray	321 A	A/D/G/J	25-595	PDB
8IVX	X-ray	190 A	A	25-595	PDB
AF-O60462-F1	Predicted				AlphaFoldDB

744 variants for O60462

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000508614 rs114144673 VAR_067537 CA2068988	334	R>C	Hirschsprung disease, susceptibility to, 1 rare variant; may act as a phenotype modifier in EIEE13 patients carrying SCN8A mutations [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000623908 rs779617179	707	V>missing	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs368151914 CA350023080	2	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA2068658 rs368151914	2	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA2068659 rs772989982	2	D>V		No	ClinGen ExAC gnomAD
CA2068660 rs760815935	3	M>I		No	ClinGen ExAC gnomAD
CA350023108 rs1328369109	3	M>K		No	ClinGen TOPMed
TCGA novel	4	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA63627034 rs1032640809	6	L>V		No	ClinGen Ensembl
CA350023271 rs1310414913	8	W>*		No	ClinGen gnomAD
rs776604303 CA2068662	9	V>I		No	ClinGen ExAC gnomAD
CA2068663 rs369619248	12	A>G		No	ClinGen ExAC gnomAD
rs1042305767 CA63627049	12	A>T		No	ClinGen TOPMed gnomAD
rs1272627674 CA350023391	13	L>P		No	ClinGen gnomAD
CA350023415 rs373490681	14	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs373490681 CA2068665	14	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs1453836970 CA350023509	18	H>Q		No	ClinGen TOPMed
rs145169333 CA2068666	19	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1439042837 CA350023556	20	V>M		No	ClinGen TOPMed
rs1191519103 CA350023637	23	Q>P		No	ClinGen gnomAD
CA63627060 rs764371530	24	P>S		No	ClinGen ExAC gnomAD
CA2068667 rs764371530	24	P>T		No	ClinGen ExAC gnomAD
rs370714658 CA2068669	25	D>N		No	ClinGen ESP ExAC gnomAD
rs767753630 CA2068688	26	P>A		No	ClinGen ExAC gnomAD
rs1312554236 CA350025872	27	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1313539710 CA350025927	29	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs764737738 CA2068691	30	G>D		No	ClinGen ExAC gnomAD
rs1335627685 CA350025948	30	G>S		No	ClinGen gnomAD
rs1288599516 CA350025969	31	R>C		No	ClinGen TOPMed gnomAD
rs1288599516 CA350025967	31	R>G		No	ClinGen TOPMed gnomAD
rs752149340 CA2068692 COSM209704	31	R>H	large_intestine prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs371178549 CA63637733	33	N>H		No	ClinGen ESP TOPMed
CA63637748 rs190705091	40	I>F		No	ClinGen 1000Genomes TOPMed
CA63637742 rs190705091	40	I>V		No	ClinGen 1000Genomes TOPMed
CA350026230 rs1279103528	41	T>N		No	ClinGen gnomAD
TCGA novel	42	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1201603313 CA350026286	43	P>L		No	ClinGen gnomAD
rs757131491 CA2068696	44	G>S	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA350026464 rs1381917846	48	D>E		No	ClinGen gnomAD
rs781131483 CA2068697	48	D>H		No	ClinGen ExAC gnomAD
rs1575549139 CA350026488	49	Y>S		No	ClinGen Ensembl
CA2068701 rs200272716	51	S>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2068702 rs749351006	51	S>F		No	ClinGen ExAC gnomAD
CA350026645 rs559933338	55	C>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2068705 rs762216540	56	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1559309309 CA350026725	58	I>V		No	ClinGen Ensembl
rs1378318587 CA350026746	59	V>I		No	ClinGen gnomAD
CA63637801 rs970611489	61	A>T		No	ClinGen TOPMed gnomAD
CA2068707 rs773503760	61	A>V		No	ClinGen ExAC gnomAD
CA2068709 rs764826189	63	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs375884844 CA2068711	64	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs375884844 CA2068710	64	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs760065720 CA63637846	65	N>T		No	ClinGen gnomAD
rs1314184400 CA350027001	68	I>V		No	ClinGen TOPMed
rs545784428 CA2068712	70	L>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	73	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2068713 rs751580820	73	N>S		No	ClinGen ExAC gnomAD
rs1435124991 CA350027319	78	I>M		No	ClinGen TOPMed gnomAD
rs1460485399 CA350027387	82	D>N		No	ClinGen gnomAD
TCGA novel	84	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	88	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1434772251 CA350017135	92	D>N		No	ClinGen TOPMed
rs1396399640 CA350017153	94	D>G		No	ClinGen TOPMed
rs1309733428 CA350017149	94	D>N		No	ClinGen gnomAD
CA2068778 rs765066964	98	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2068777 COSM1631757 COSM1631758 rs765066964	98	A>T	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2068779 rs758549230	99	D>E		No	ClinGen ExAC gnomAD
rs1443129896 CA350017183	99	D>N		No	ClinGen gnomAD
rs1236846146 CA350017191	100	L>V		No	ClinGen gnomAD
rs1242644548 CA350017210	103	K>R		No	ClinGen TOPMed
CA350017220 rs1575577715	104	H>L		No	ClinGen Ensembl
CA63621707 rs137895071	107	N>S		No	ClinGen ESP TOPMed gnomAD
rs1487225802 CA350017244	108	I>V		No	ClinGen TOPMed
CA2068783 rs757792703	113	I>V		No	ClinGen ExAC gnomAD
rs1237170121 CA350017285	114	I>S		No	ClinGen gnomAD
CA2068785 rs746365156	118	S>C		No	ClinGen ExAC gnomAD
CA350017316 rs1184019921	119	M>T		No	ClinGen TOPMed gnomAD
CA350017321 rs1331786240	120	L>V		No	ClinGen gnomAD
CA350017346 rs849541	123	K>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA63621746 RCV000948613 VAR_047754 RCV002249585 rs849541	123	K>R		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs849541 CA350017345	123	K>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350017358 rs747811301	125	T>P		No	ClinGen ExAC TOPMed gnomAD
CA2068788 rs747811301	125	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1276785110 CA350017364	126	S>A		No	ClinGen gnomAD
rs1256247488 CA350017385	129	A>P		No	ClinGen gnomAD
TCGA novel	129	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350017391 rs1199892743	130	R>W		No	ClinGen gnomAD
CA63621764 rs1032541503	136	S>A		No	ClinGen TOPMed
rs759512138 CA2068794	138	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1478160503 CA350017443	138	R>L		No	ClinGen gnomAD
CA350017451 rs775207599	139	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA2068797 rs150835990	140	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA350017460 rs1384827784	141	I>V		No	ClinGen gnomAD
CA350017468 rs1575578014	142	F>V		No	ClinGen Ensembl
CA2068830 rs756875233	147	E>K		No	ClinGen ExAC gnomAD
rs780588448 CA2068831	148	D>Y		No	ClinGen ExAC
CA63624916 rs953378164	150	S>*		No	ClinGen Ensembl
rs1421980721 CA350018466	151	K>E		No	ClinGen gnomAD
CA350018476 rs1575587355	152	N>T		No	ClinGen Ensembl
rs984744839 CA350018492	154	T>I		No	ClinGen Ensembl
rs984744839 CA63624919	154	T>K		No	ClinGen Ensembl
CA2068832 rs745343398	154	T>S		No	ClinGen ExAC gnomAD
rs1277983095 CA350018494	155	S>G		No	ClinGen TOPMed gnomAD
CA2068833 rs547293929	157	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs187188732 CA63624939	157	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs547293929 CA63624921	157	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs34980616 CA2068836 CA2068835	158	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350018518 rs1559326717	159	T>A		No	ClinGen Ensembl
CA2068837 rs774069377	160	I>V		No	ClinGen ExAC gnomAD
rs1575587426 CA350018532	161	E>G		No	ClinGen Ensembl
CA2068839 rs772292404	161	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs773271726 CA2068840	162	S>T		No	ClinGen ExAC gnomAD
TCGA novel	162	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350018543 rs1335392634	163	P>L		No	ClinGen gnomAD
rs1398282309 CA350018542	163	P>S		No	ClinGen TOPMed gnomAD
TCGA novel	164	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	166	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350018572 rs1376858074	167	E>D		No	ClinGen gnomAD
rs760855315 CA2068841	170	P>R		No	ClinGen ExAC gnomAD
TCGA novel	170	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1213787876 CA350018625	174	D>E		No	ClinGen TOPMed
rs1311939543 CA350018620	174	D>Y		No	ClinGen gnomAD
rs376857868 CA63624989	175	C>Y		No	ClinGen ESP TOPMed
CA2068843 rs754461194	176	T>A		No	ClinGen ExAC gnomAD
rs1559326820 CA350018637	176	T>I		No	ClinGen Ensembl
rs1254868886 CA350018650	178	T>I		No	ClinGen gnomAD
rs1348761859 CA350018663	180	L>R		No	ClinGen Ensembl
CA2068846 rs372681346	185	M>I		No	ClinGen ESP ExAC gnomAD
CA2068845 rs765709071	185	M>K		No	ClinGen ExAC TOPMed gnomAD
CA63625008 rs557797648	186	E>G		No	ClinGen 1000Genomes gnomAD
CA350018699 rs1575587534	186	E>K		No	ClinGen Ensembl
rs143068720 CA63625015	187	I>T		No	ClinGen 1000Genomes
CA2068847 RCV000895139 rs150011205	187	I>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2068851 rs755679361	194	F>L		No	ClinGen ExAC TOPMed gnomAD
rs755679361 CA2068850	194	F>V		No	ClinGen ExAC TOPMed gnomAD
CA63625024 rs1015051569	198	H>Q		No	ClinGen TOPMed
CA2068852 rs376335745	198	H>Y		No	ClinGen ESP ExAC gnomAD
CA350018813 rs1344118687	203	V>M		No	ClinGen TOPMed
CA350018821 rs1400138387	204	G>E		No	ClinGen gnomAD
CA63625029 rs779263768	204	G>R		No	ClinGen TOPMed
CA350018840 rs1393027576	207	D>Y		No	ClinGen TOPMed
TCGA novel	209	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1450295566 CA350018854	209	K>Q		No	ClinGen TOPMed
rs1234699401 CA350018886	212	W>C		No	ClinGen gnomAD
CA2068859 rs747190172	213	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1196717504 CA350018902	215	I>F		No	ClinGen gnomAD
CA350018904 rs1239750120	215	I>T		No	ClinGen gnomAD
rs1480809144 CA350018917	217	D>H		No	ClinGen TOPMed gnomAD
CA350018916 rs1480809144	217	D>N		No	ClinGen TOPMed gnomAD
CA350018948 rs1238130702 COSM246112	221	H>R	prostate [Cosmic]	No	ClinGen cosmic curated TOPMed
CA2068863 rs765798865	222	V>I		No	ClinGen ExAC gnomAD
rs1279561539 CA350019249	223	G>A		No	ClinGen gnomAD
CA2068879 rs745985262	223	G>C		No	ClinGen ExAC TOPMed gnomAD
CA2068881 rs532796522	224	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs532796522 CA2068880	224	P>T		No	ClinGen 1000Genomes ExAC gnomAD
rs763366228 CA2068883	225	L>P		No	ClinGen ExAC gnomAD
rs764526403 CA350019267	227	G>R		No	ClinGen ExAC TOPMed gnomAD
rs764526403 CA2068884	227	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1559327873 CA350019276	228	K>R		No	ClinGen Ensembl
rs1421736900 CA350019281	229	Y>H		No	ClinGen TOPMed
rs1218808991 CA350019320	234	T>I		No	ClinGen TOPMed gnomAD
TCGA novel	234	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2068888 rs765979081	236	S>F		No	ClinGen ExAC TOPMed gnomAD
CA2068889 COSM1691852 rs753461978 COSM1691853	239	R>C	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2068890 rs201324375	239	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs563060469 CA2068891	241	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs138033888 CA2068892	242	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350019378 rs1377737768	244	I>S		No	ClinGen Ensembl
rs757086093 CA2068896	245	L>F		No	ClinGen ExAC gnomAD
CA2068898 rs781613975	248	T>I		No	ClinGen ExAC gnomAD
CA2068897 rs781613975	248	T>N		No	ClinGen ExAC gnomAD
rs113330212 COSM1015255 CA2068899 COSM1591762	251	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1381284598 CA350019430	253	M>V		No	ClinGen gnomAD
rs749862348 CA2068901	254	A>V		No	ClinGen ExAC gnomAD
rs1351766851 CA350019464	258	D>Y		No	ClinGen gnomAD
TCGA novel	260	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	261	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	261	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA63625628 rs370384347	262	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2068904 rs370384347	262	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2068906 rs776273972	263	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2068907 rs199881632	263	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764862408 CA2068908	264	Y>H		No	ClinGen ExAC
rs1575589324 CA350019509	265	Y>S		No	ClinGen Ensembl
CA2068909 rs752127817	266	L>M		No	ClinGen ExAC gnomAD
rs762988706 CA2068910	267	V>A		No	ClinGen ExAC TOPMed gnomAD
rs762988706 CA350019521	267	V>D		No	ClinGen ExAC TOPMed gnomAD
rs1197214543 CA350019518	267	V>I		No	ClinGen TOPMed gnomAD
CA350019528 rs1575589355	268	H>P		No	ClinGen Ensembl
CA350019568 rs1559328191	271	P>S		No	ClinGen Ensembl
CA350019905 rs1340858678	276	Q>E		No	ClinGen TOPMed
rs1283993220 CA350019912	276	Q>L		No	ClinGen gnomAD
rs754039156 CA2068936	277	C>G		No	ClinGen ExAC gnomAD
rs778963372 CA2068938	278	N>S		No	ClinGen ExAC gnomAD
rs755021933 CA2068937	278	N>Y		No	ClinGen ExAC gnomAD
CA2068939 rs748715982	279	V>I		No	ClinGen ExAC TOPMed gnomAD
rs79750907 CA2068940 RCV000890555	280	P>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs778153724 CA2068941	283	M>V		No	ClinGen ExAC gnomAD
CA2068942 rs377035589	284	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA350020136 rs377035589	284	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1192304874 CA350020198	286	G>D		No	ClinGen gnomAD
rs771278601 CA2068944	287	R>G		No	ClinGen ExAC TOPMed gnomAD
rs114305456 CA2068945 RCV000974941	287	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2068943 rs771278601	287	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2068946 rs768347798	288	I>T		No	ClinGen ExAC TOPMed gnomAD
rs773984556 CA2068947	289	A>T		No	ClinGen ExAC gnomAD
CA350020266 rs1176331271	289	A>V		No	ClinGen TOPMed
TCGA novel	291	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350020363 rs1305139328	292	Q>L		No	ClinGen TOPMed gnomAD
rs767529514 CA2068949	294	S>G		No	ClinGen ExAC gnomAD
TCGA novel	295	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754078889 CA2068953	300	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA350020636 rs1575591774	301	D>G		No	ClinGen Ensembl
CA2068955 rs369347008	302	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs368857132 CA2068954	302	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752745836 CA2068956	306	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1453803399 CA350020841	308	Q>H		No	ClinGen gnomAD
CA2068958 rs372080377 COSM124852	310	R>Q	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs758434930 CA2068957	310	R>W		No	ClinGen ExAC gnomAD
CA2068959 rs747493346	312	H>P		No	ClinGen ExAC gnomAD
rs757566894 CA2068960	313	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1471663148 CA350020994	317	G>C		No	ClinGen TOPMed gnomAD
CA350020991 rs1471663148	317	G>S		No	ClinGen TOPMed gnomAD
CA350021019 rs1165239387	318	W>S		No	ClinGen gnomAD
RCV000904432 rs151124318 CA2068961	321	N>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs151124318 CA2068962	321	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200002477 CA2068963	322	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2068964 rs778605047	323	D>G		No	ClinGen ExAC gnomAD
rs371668549 CA2068965	324	S>C		No	ClinGen ExAC TOPMed gnomAD
CA350021167 rs1336218529	325	N>K		No	ClinGen TOPMed
CA350021163 rs531379014	325	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs531379014 CA2068966	325	N>T		No	ClinGen 1000Genomes ExAC gnomAD
CA350021176 rs1466230204	326	K>E		No	ClinGen TOPMed
rs1559329781 CA350021242	330	Q>H		No	ClinGen Ensembl
rs746971398 CA2068986	331	V>L		No	ClinGen ExAC gnomAD
rs769522962 CA2068990	334	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2068989 rs114144673	334	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150064130 COSM1404738 CA2068992 COSM1404737	340	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA2068994 rs751636080	341	A>T		No	ClinGen ExAC gnomAD
CA350022450 rs1461844815	341	A>V		No	ClinGen TOPMed
CA350022492 rs111369832	343	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA2068997 rs555467484	343	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA2068996 rs555467484	343	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs111369832 CA63627260	343	A>V		No	ClinGen TOPMed
rs1317226523 CA350022513	345	Q>H		No	ClinGen gnomAD
CA350022512 rs1283804069	345	Q>R		No	ClinGen gnomAD
rs756557033 CA2068998	346	G>E		No	ClinGen ExAC gnomAD
rs780495885 CA2068999	347	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA63627264 rs566118939	350	R>G		No	ClinGen Ensembl
CA2069001 rs758105913	350	R>K		No	ClinGen ExAC gnomAD
CA63627270 rs1049527642	353	Q>*		No	ClinGen TOPMed
rs376340891 CA2069002	353	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA2069003 rs149039089	354	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350022707 rs1244568536	354	N>S		No	ClinGen gnomAD
rs756674235 CA2069004	355	G>V		No	ClinGen ExAC
rs781204700 CA2069005	356	Y>*		No	ClinGen ExAC gnomAD
rs1359148522 CA350022756	356	Y>C		No	ClinGen TOPMed gnomAD
CA2069006 rs745738796	357	Y>S		No	ClinGen ExAC gnomAD
CA2069008 rs775252226	358	V>I		No	ClinGen ExAC gnomAD
CA2069009 rs749560928	360	S>T		No	ClinGen ExAC gnomAD
CA350022961 rs1401431665	365	V>D		No	ClinGen TOPMed
rs1450437678 CA350022953	365	V>I		No	ClinGen TOPMed
rs1292530948 CA350022984	366	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1363363131 CA350023019	367	T>S		No	ClinGen gnomAD
rs1168220292 CA350023057	368	N>K		No	ClinGen TOPMed
CA2069010 rs768890029	369	G>E		No	ClinGen ExAC gnomAD
CA2069011 rs774395795	370	E>K		No	ClinGen ExAC gnomAD
rs1206109803 CA350023168	372	W>G		No	ClinGen Ensembl
rs1371504760 CA350023229	373	M>I		No	ClinGen TOPMed
rs1463364572 CA350023224	373	M>T		No	ClinGen TOPMed
CA2069013 rs767436534	373	M>V		No	ClinGen ExAC gnomAD
CA350023245 rs1575594203	374	V>G		No	ClinGen Ensembl
rs773855907 CA2069014	374	V>L		No	ClinGen ExAC
rs761256086 CA350023287	376	R>P		No	ClinGen ExAC TOPMed gnomAD
CA2069015 rs761256086	376	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA350023331 rs1445283426	378	G>R		No	ClinGen TOPMed
CA2069016 rs766902359	378	G>V		No	ClinGen ExAC gnomAD
rs1490906980 CA350023490	381	H>R		No	ClinGen gnomAD
CA63627327 rs903451335	382	K>R		No	ClinGen gnomAD
rs1057354289 CA63638215	383	V>A		No	ClinGen Ensembl
CA350026188 rs1483216264	388	N>S		No	ClinGen gnomAD
CA2069039 rs201603089	389	D>A		No	ClinGen 1000Genomes ExAC gnomAD
rs759959447 CA2069037	389	D>N		No	ClinGen ExAC gnomAD
CA2069038 rs759959447	389	D>Y		No	ClinGen ExAC gnomAD
rs1163774095 CA350026292	392	E>G		No	ClinGen gnomAD
rs1406835192 CA350026338	393	V>L		No	ClinGen gnomAD
rs756847742 CA2069040	398	L>I		No	ClinGen ExAC gnomAD
CA2069041 rs767062968	399	H>R		No	ClinGen ExAC gnomAD
rs1384781458 CA350026526	400	A>G		No	ClinGen gnomAD
rs367956491 CA2069043	400	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA350026522 rs1384781458	400	A>V		No	ClinGen gnomAD
CA350026626 rs1308747090	403	L>P		No	ClinGen gnomAD
rs753657889 CA2069045	404	T>I		No	ClinGen ExAC gnomAD
rs1186838471 CA350026665	405	R>K		No	ClinGen TOPMed
CA350026678 rs1225481560	405	R>S		No	ClinGen TOPMed gnomAD
CA63638304 rs1053792562	408	R>T		No	ClinGen TOPMed
rs1216220931 CA350026777	410	R>G		No	ClinGen TOPMed
CA2069046 rs754803505	410	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1312092140 CA350026818	411	P>S		No	ClinGen gnomAD
rs1009239340 CA63638313	412	Q>R		No	ClinGen TOPMed
CA63638331 rs888077609	415	H>L		No	ClinGen TOPMed gnomAD
CA2069047 rs778563388	415	H>Y		No	ClinGen ExAC gnomAD
rs1178413342 CA350026970	417	G>D		No	ClinGen gnomAD
rs1247112255 CA350026989	418	I>V		No	ClinGen TOPMed gnomAD
rs146073574 CA2069049	419	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs778106244 CA2069050	421	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA350027103 rs1408253459	423	E>Q		No	ClinGen gnomAD
CA2069052 rs771080482	424	L>F		No	ClinGen ExAC gnomAD
rs771080482 CA350027125	424	L>I		No	ClinGen ExAC gnomAD
CA63638387 rs753855535	426	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA350027228 rs1444685973	427	C>Y		No	ClinGen gnomAD
CA2069058 rs761565919	428	R>L		No	ClinGen ExAC TOPMed gnomAD
CA2069057 rs761565919	428	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2069056 VAR_067538 rs139711818	428	R>W	rare variant; may act as a phenotype modifier in EIEE13 patients carrying SCN8A mutations [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA350027267 rs1575610534	429	V>G		No	ClinGen Ensembl
rs1227389638 CA350027772	432	A>V		No	ClinGen gnomAD
CA2069070 rs781119570	434	C>S		No	ClinGen ExAC TOPMed gnomAD
CA2069071 rs781119570	434	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1341854576 CA350027856	435	S>F		No	ClinGen gnomAD
rs1215558785 CA350027876	436	N>S		No	ClinGen gnomAD
CA350027932 rs1245486988	438	L>P		No	ClinGen TOPMed
rs551278469 CA2069073	441	L>F		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	443	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768950652 CA2069075	444	L>V		No	ClinGen ExAC gnomAD
rs201900948 RCV000890758 CA2069077	445	I>L		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1240314590 CA350028086	445	I>T		No	ClinGen gnomAD
rs201900948 CA350028075	445	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs990373295 CA63640313	447	D>G		No	ClinGen TOPMed
CA350028152 rs1453882403	449	Q>R		No	ClinGen TOPMed gnomAD
rs765927642 CA2069078	450	I>T		No	ClinGen ExAC
rs1476231635 CA350028193	451	S>Y		No	ClinGen gnomAD
rs1423045277 CA350028202	452	A>D		No	ClinGen gnomAD
CA2069079 rs753261998	452	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2069080 rs753261998	452	A>T		No	ClinGen ExAC TOPMed gnomAD
rs765113700 CA2069081	453	S>P		No	ClinGen ExAC gnomAD
CA350028255 rs1375404108	456	Q>E		No	ClinGen gnomAD
CA63640361 rs921057351	457	E>K		No	ClinGen Ensembl
rs758275583 CA2069083	458	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs906503267 CA63640375	458	Y>S		No	ClinGen gnomAD
rs774513723 CA63640381	459	L>F		No	ClinGen Ensembl
CA2069084 rs530582033	461	S>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350028368 rs751890151	461	S>R		No	ClinGen ExAC gnomAD
rs757531378 CA2069086	462	P>R		No	ClinGen ExAC gnomAD
CA350028376 rs1358280865	462	P>S		No	ClinGen gnomAD
CA2069087 rs781373400	463	S>N		No	ClinGen ExAC TOPMed gnomAD
CA350028390 rs781373400	463	S>T		No	ClinGen ExAC TOPMed gnomAD
rs745964819 CA2069088	464	A>T		No	ClinGen ExAC gnomAD
CA350028415 rs1204040908	465	A>T		No	ClinGen gnomAD
COSM1217853 COSM1217852 rs756167318 CA2069089	466	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1448721197 CA350028435	466	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA350028460 rs1193624926	468	V>L		No	ClinGen gnomAD
CA2069091 rs749728296	469	S>N		No	ClinGen ExAC gnomAD
rs769071559 CA2069092	470	S>G		No	ClinGen ExAC gnomAD
rs774680234 CA2069093 CA350028500	470	S>R		No	ClinGen ExAC TOPMed gnomAD
rs746710925 CA2069094	471	R>C	Variant assessed as Somatic; 0.0001848 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs746710925 CA350028502	471	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2069095 rs149849497	471	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA2069096 rs200906927	472	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	473	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775358153 CA2069099	475	F>L		No	ClinGen ExAC gnomAD
rs1575614319 CA350028569	475	F>V		No	ClinGen Ensembl
CA2069101 rs764031538	476	P>R		No	ClinGen ExAC
CA2069100 rs546952277	476	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1454944897 CA350028598	477	R>G		No	ClinGen gnomAD
rs751370729 CA2069102	477	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA350028630 rs1184378195	479	P>L		No	ClinGen TOPMed
rs1237682811 CA350028623	479	P>S		No	ClinGen gnomAD
CA350028647 rs767653480	480	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA350028642 rs1258501234	480	Q>R		No	ClinGen gnomAD
CA63640529 rs942098396	481	A>D		No	ClinGen TOPMed
CA350028673 rs1575614404	482	Q>H		No	ClinGen Ensembl
rs147580347 CA2069107	484	G>A		No	ClinGen ESP ExAC
rs762753258 CA350028692	484	G>R		No	ClinGen ExAC TOPMed gnomAD
rs762753258 CA2069106	484	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1358592311 CA350028751	488	L>F		No	ClinGen TOPMed
CA2069109 rs375155400	490	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA63640568 rs375155400	490	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748538264 CA2069111	492	L>M		No	ClinGen ExAC gnomAD
rs765859461 CA63640613	494	T>I		No	ClinGen Ensembl
CA2069112 rs772426896	496	K>Q		No	ClinGen ExAC gnomAD
CA350028884 rs1470786537	497	T>A		No	ClinGen gnomAD
rs776157227 CA2069113	497	T>I		No	ClinGen ExAC gnomAD
CA63640658 rs879030687	498	V>M		No	ClinGen Ensembl
COSM269737 rs745533260 CA350028931	500	G>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1405707522 CA350028934	500	G>D		No	ClinGen TOPMed
rs745533260 CA2069116	500	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1471126310 CA350028989	504	Q>E		No	ClinGen gnomAD
rs769246224 CA350029025	506	A>P		No	ClinGen ExAC TOPMed gnomAD
CA2069117 rs769246224	506	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2069118 rs775117252	506	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs763025891 CA2069119	507	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2069120 rs537993529	507	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs182060947 CA2069123	508	G>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM2713306 CA2069122 rs182060947 COSM2713307	508	G>R	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA350029092 rs1282488897	510	D>E		No	ClinGen gnomAD
CA350029098 rs1321349408	511	S>G		No	ClinGen TOPMed gnomAD
CA350029096 rs1321349408	511	S>R		No	ClinGen TOPMed gnomAD
rs1470417399 CA350029118	512	I>V		No	ClinGen gnomAD
rs1027183340 CA63640715	514	A>S		No	ClinGen Ensembl
CA350029157 rs1363511821	514	A>V		No	ClinGen TOPMed
rs1205320634 CA350029203	517	A>D		No	ClinGen gnomAD
rs750676995 CA2069124	519	A>T		No	ClinGen ExAC gnomAD
CA2069125 rs760935055	521	V>L		No	ClinGen ExAC gnomAD
CA350029274 rs1252964216	522	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
COSM1482675 rs753882233 COSM442161 CA2069127	522	R>H	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA350029331 rs1427797772	525	K>E		No	ClinGen gnomAD
CA63640719 rs899517184	525	K>R		No	ClinGen TOPMed
CA2069128 rs373407554	528	Y>H		No	ClinGen ESP ExAC gnomAD
CA350030122 rs373025184	531	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753140405 CA2069130	532	G>S		No	ClinGen ExAC TOPMed gnomAD
CA2069131 rs758760273	533	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	534	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2069133 rs745557043	536	E>G		No	ClinGen ExAC TOPMed gnomAD
rs778187600 CA2069132	536	E>Q		No	ClinGen ExAC gnomAD
CA350030248 rs1302053333	537	Y>H		No	ClinGen gnomAD
CA2069134 rs769458383	538	I>T		No	ClinGen ExAC TOPMed gnomAD
CA2069135 rs779814643	539	Q>R		No	ClinGen ExAC gnomAD
rs1301692876 CA350030322	540	D>A		No	ClinGen gnomAD
CA350030324 rs1301692876	540	D>G		No	ClinGen gnomAD
rs1281664455 CA350030343	541	P>S		No	ClinGen TOPMed
CA2069136 rs748827775	544	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1253233009 CA350030478	547	K>N		No	ClinGen gnomAD
CA63646351 rs935324633	550	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs778552102 CA2069157 CA2069158	553	M>I		No	ClinGen ExAC gnomAD
rs768347871 CA2069156	553	M>L		No	ClinGen ExAC TOPMed gnomAD
rs768347871 CA350031450	553	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1344527699 CA350031464	554	H>N		No	ClinGen gnomAD
CA63646366 rs377387630	555	Y>C		No	ClinGen ESP TOPMed gnomAD
CA350031515 rs1322269729	557	T>A		No	ClinGen gnomAD
CA63646367 rs889014569	557	T>I		No	ClinGen Ensembl
CA2069159 rs772010390	558	P>L		No	ClinGen ExAC gnomAD
TCGA novel	559	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770649744 CA2069162	561	R>*		No	ClinGen ExAC gnomAD
rs766899842 CA2069163	561	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2069164 rs759744241	562	R>K		No	ClinGen ExAC TOPMed gnomAD
CA63646387 rs1045208252	563	F>S		No	ClinGen TOPMed gnomAD
CA350031600 rs1045208252	563	F>Y		No	ClinGen TOPMed gnomAD
CA2069165 rs368539545	564	D>G		No	ClinGen ESP ExAC gnomAD
rs775609070 CA2069167	566	I>M		No	ClinGen ExAC gnomAD
rs905379832 CA63646394	567	P>L		No	ClinGen TOPMed gnomAD
CA63646421 rs995677164	568	A>G		No	ClinGen TOPMed gnomAD
CA350031688 rs995677164	568	A>V		No	ClinGen TOPMed gnomAD
rs764685033 CA2069170	569	Q>H		No	ClinGen ExAC gnomAD
CA2069171 rs751951792	570	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA350031724 rs1412046665	571	V>M		No	ClinGen gnomAD
COSM442162 rs757643027 CA2069172 COSM1134140	572	R>Q	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA63646438 COSM1217856 rs776049997 COSM1217857	575	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA350031786 rs1334515512	575	P>T		No	ClinGen gnomAD
rs998973803 CA63646444	577	R>K		No	ClinGen TOPMed
rs199535645 CA350031862	579	S>*		No	ClinGen TOPMed gnomAD
rs1575618357 CA350031859	579	S>A		No	ClinGen Ensembl
CA63646446 rs199535645	579	S>L		No	ClinGen TOPMed gnomAD
rs1225570944 COSM1153719 COSM1015259 CA350031878	580	P>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1323516413 CA350031886	581	A>T		No	ClinGen gnomAD
CA2069180 rs746918239	581	A>V		No	ClinGen ExAC TOPMed gnomAD
CA2069183 rs746130411	583	I>T		No	ClinGen ExAC gnomAD
rs1210316961 CA350031912	583	I>V		No	ClinGen gnomAD
rs770034278 CA2069184	584	G>A		No	ClinGen ExAC gnomAD
CA2069186 rs371257328	586	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2069185 COSM2713322 rs775527944 COSM2713323	586	R>W	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs774987439 CA350031999	588	E>D		No	ClinGen ExAC TOPMed gnomAD
CA2069187 rs764011515	588	E>G		No	ClinGen ExAC gnomAD
CA2069189 rs762394912	589	V>G		No	ClinGen ExAC gnomAD
rs1328390148 CA350032019	590	L>V		No	ClinGen gnomAD
rs756503711 CA2069192	592	C>S		No	ClinGen ExAC gnomAD
CA2069194 rs371653373	594	W>*		No	ClinGen ESP ExAC gnomAD
CA2069193 rs145001167	594	W>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs369787845 CA2069216	596	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs369787845 CA2069217	596	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA350033314 rs1166054680	597	S>C		No	ClinGen gnomAD
rs140796876 CA2069219	600	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140796876 CA2069218	600	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768729063 CA2069221	601	V>A		No	ClinGen ExAC gnomAD
CA2069222 rs1128169 VAR_065167	602	E>K		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs372509246 CA2069224	603	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2069223 rs372509246 COSM242583	603	T>M	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs372509246 CA2069225	603	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771378649 CA2069227	604	L>P		No	ClinGen ExAC gnomAD
rs761252313 CA2069226	604	L>V		No	ClinGen ExAC TOPMed gnomAD
rs940236469 CA63649399	606	P>R		No	ClinGen Ensembl
rs1240190640 CA350033472	607	T>I		No	ClinGen TOPMed gnomAD
rs759909954 CA2069229	608	V>M		No	ClinGen ExAC gnomAD
CA63649414 rs200406312	610	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2069230 rs200406312	610	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2069233 CA2069231 rs200533161	610	S>R		No	ClinGen ExAC TOPMed gnomAD
rs114848039 CA2069234 RCV000914535	611	E>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	612	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1400681791 CA350033556	612	E>G		No	ClinGen TOPMed gnomAD
rs755981366 CA350033547	612	E>K		No	ClinGen ExAC gnomAD
rs755981366 CA2069235 COSM1217854 COSM1217855	612	E>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs779939670 CA2069236	613	T>K		No	ClinGen ExAC gnomAD
rs373766413 CA2069237	614	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA2069238 rs754749957	615	T>I		No	ClinGen ExAC TOPMed gnomAD
rs377485442 CA2069239	616	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs748310698 CA2069240	616	P>H		No	ClinGen ExAC gnomAD
CA350033601 rs748310698	616	P>L		No	ClinGen ExAC gnomAD
CA2069245 rs777147252	620	E>K		No	ClinGen ExAC TOPMed gnomAD
CA2069247 rs746233197	621	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1209132652 CA350033647	623	A>D		No	ClinGen gnomAD
rs770131547 CA2069248	624	T>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	625	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1237082289 CA350033666	626	C>Y		No	ClinGen TOPMed gnomAD
rs902352035 CA63649469	627	G>A		No	ClinGen TOPMed
rs902352035 CA350033672	627	G>E		No	ClinGen TOPMed
rs202118866 CA2069250 CA2069251	627	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772678301 CA2069252	628	E>Q		No	ClinGen ExAC gnomAD
CA350033720 rs1414846518	633	E>D		No	ClinGen TOPMed gnomAD
CA63649476 rs1003438384	634	D>E		No	ClinGen Ensembl
rs746383603 CA2069265	635	D>G		No	ClinGen ExAC gnomAD
rs965030229 CA63649492	635	D>N		No	ClinGen TOPMed gnomAD
rs973565449 CA63651440	640	L>F		No	ClinGen gnomAD
CA2069268 rs747836952	642	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA350034187 rs760113411	645	N>K		No	ClinGen ExAC TOPMed gnomAD
CA2069270 rs373072938	645	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs150629453 COSM168430 CA2069273	649	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs150629453 CA350034265	649	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA350034276 rs1483434699	650	F>I		No	ClinGen TOPMed gnomAD
CA2069275 rs183448761	652	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	653	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1296878903 CA350034344	653	E>K		No	ClinGen TOPMed
CA350034388 rs1200090381	654	P>H		No	ClinGen TOPMed gnomAD
rs1200090381 CA350034383	654	P>L		No	ClinGen TOPMed gnomAD
CA63651496 rs943409565	658	M>I		No	ClinGen TOPMed gnomAD
CA350034470 rs758222408	658	M>K		No	ClinGen ExAC TOPMed gnomAD
CA2069277 rs758222408	658	M>T		No	ClinGen ExAC TOPMed gnomAD
rs765192019 CA63651509	662	A>T		No	ClinGen Ensembl
rs372658596 COSM1482676 CA2069282 COSM442163	666	R>Q	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs143177221 COSM1404744 COSM1404743 CA2069281	666	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA350034593 rs756579107	667	T>A		No	ClinGen ExAC TOPMed gnomAD
CA2069283 rs756579107	667	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1000014176 CA63651522	668	T>I		No	ClinGen gnomAD
rs1575630676 CA350034600	668	T>P		No	ClinGen Ensembl
CA350034608 rs1000014176	668	T>S		No	ClinGen gnomAD
COSM317715 CA2069284 rs780495259	669	W>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs140225653 CA63651535	671	S>R		No	ClinGen ESP
CA350034661 rs1277075217	672	S>I		No	ClinGen TOPMed gnomAD
CA350034658 rs1277075217	672	S>N		No	ClinGen TOPMed gnomAD
rs749671267 CA2069285	673	S>F		No	ClinGen ExAC gnomAD
CA2069286 rs768950887	674	S>N		No	ClinGen ExAC gnomAD
CA2069287 rs777295213	675	P>R		No	ClinGen ExAC gnomAD
rs1192104321 CA350034715	676	N>S		No	ClinGen gnomAD
CA2069290 rs143905342	677	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA2069289 rs143905342	677	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs147173240 CA2069292	678	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758929719 CA2069291	678	R>W		No	ClinGen ExAC TOPMed gnomAD
rs546006326 CA350034746	679	T>K		No	ClinGen ExAC TOPMed gnomAD
CA2069293 rs546006326	679	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2069295 rs763980274	681	P>L		No	ClinGen ExAC gnomAD
rs376722169 CA2069311	683	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs762974463 CA2069312	684	R>S		No	ClinGen ExAC gnomAD
CA350035494 rs1322370110	686	F>S		No	ClinGen gnomAD
rs531137102 CA2069313	688	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA63658974 rs748525997	688	R>W		No	ClinGen TOPMed gnomAD
rs1575647893 CA350035533	690	Q>E		No	ClinGen Ensembl
CA350035557 rs1575647901	691	S>R		No	ClinGen Ensembl
rs774162388 CA2069314	692	D>G		No	ClinGen ExAC TOPMed gnomAD
CA350035597 rs1381380959	694	Q>H		No	ClinGen gnomAD
rs761472216 CA2069315	696	E>D		No	ClinGen ExAC TOPMed gnomAD
CA2069316 rs528004763	697	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350035630 rs1325897513	697	G>S		No	ClinGen TOPMed
CA2069317 rs750549184	700	A>T		No	ClinGen ExAC gnomAD
rs766441302 CA2069319	701	R>Q		No	ClinGen ExAC gnomAD
CA2069318 rs760747816	701	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs754398703 CA2069320	705	P>L		No	ClinGen ExAC gnomAD
rs779250419 CA2069322	706	P>A		No	ClinGen ExAC TOPMed gnomAD
rs368956804 CA2069323	706	P>L		No	ClinGen ESP TOPMed gnomAD
rs368956804 CA63659085	706	P>R		No	ClinGen ESP TOPMed gnomAD
CA350035756 rs1161073539	707	V>A		No	ClinGen gnomAD
rs1235386988	707	V>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350035764 rs1575648087	708	H>P		No	ClinGen Ensembl
rs758633583 CA2069326	708	H>Y		No	ClinGen ExAC gnomAD
rs897134761 CA350035784	710	P>A		No	ClinGen gnomAD
rs1040739942 CA63659120	710	P>L		No	ClinGen TOPMed
CA63659116 rs897134761	710	P>S		No	ClinGen gnomAD
CA350035787 rs1448831947	711	R>G		No	ClinGen TOPMed gnomAD
rs755747845 CA2069329	711	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA63659133 rs996595029	713	P>Q		No	ClinGen TOPMed
CA350035801 rs1349145589	713	P>S		No	ClinGen gnomAD
rs768667098 CA2069332	716	M>L		No	ClinGen ExAC gnomAD
rs1559355507 CA350035826	717	E>K		No	ClinGen Ensembl
rs1028118798 CA63659148	718	F>L		No	ClinGen TOPMed gnomAD
rs1276047235 CA350035866	722	A>T		No	ClinGen gnomAD
CA2069335 rs755693536	725	G>D		No	ClinGen ExAC gnomAD
rs1368890399 CA350035884	725	G>S		No	ClinGen TOPMed
rs1481798937 CA350035893	726	R>P		No	ClinGen gnomAD
rs954158454 CA63659158	727	G>R		No	ClinGen Ensembl
TCGA novel	728	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1032069935 CA63659197	734	R>Q		No	ClinGen TOPMed gnomAD
rs1477541916 CA350035938	734	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA350035943 rs1347418471	735	E>A		No	ClinGen TOPMed
rs536737321 CA63659199	735	E>K		No	ClinGen gnomAD
rs1427522039 CA350035957	737	S>N		No	ClinGen gnomAD
CA63659204 rs367890084	740	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
CA350035980 rs1400536617	740	S>N		No	ClinGen TOPMed
CA350035986 rs1168016066	741	K>E		No	ClinGen gnomAD
rs760872348 CA2069337	744	W>*		No	ClinGen ExAC TOPMed gnomAD
CA2069338 rs766492892	745	V>A		No	ClinGen ExAC gnomAD
rs1173939765 CA350036023	746	I>S		No	ClinGen TOPMed
CA2069339 rs560207567	747	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA2069340 rs759486207	751	G>S		No	ClinGen ExAC gnomAD
rs146481828 CA63659240	752	G>S		No	ClinGen ESP TOPMed
CA350036065 rs753078349	753	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs758868316 CA2069343	753	E>D		No	ClinGen ExAC gnomAD
CA2069342 rs753078349	753	E>K		No	ClinGen ExAC gnomAD
CA350036087 rs1192417279	756	H>Y		No	ClinGen TOPMed
rs1339363358 CA350036095	757	G>R		No	ClinGen gnomAD
CA350036101 rs764357213	758	R>G		No	ClinGen ExAC TOPMed gnomAD
CA350036102 rs764357213	758	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2069346 rs532219513	760	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs144880811 CA2069345	760	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2069348 rs371362396	762	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA2069347 rs779810589	762	P>S		No	ClinGen ExAC gnomAD
CA2069349 rs552306916	765	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA2069350 rs778911017	766	M>T		No	ClinGen ExAC TOPMed gnomAD
CA350036164 rs1345945126	767	E>D		No	ClinGen TOPMed
rs748031757 CA350036172	768	Y>*		No	ClinGen ExAC gnomAD
CA2069362 rs764597406	771	V>A		No	ClinGen ExAC TOPMed gnomAD
CA350036685 rs1165436094	771	V>M		No	ClinGen gnomAD
rs762216772 CA2069364	773	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA350036732 rs1188705369	774	G>R		No	ClinGen TOPMed
rs149128054 CA2069366	775	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2069365 rs149128054	775	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1460321824 CA350036759	776	I>T		No	ClinGen gnomAD
CA2069367 rs754582602	778	K>E		No	ClinGen ExAC gnomAD
rs778272896 CA2069368	780	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2069369 rs752727250	780	R>H		No	ClinGen ExAC TOPMed gnomAD
rs768218901 COSM3768922 CA2069371 COSM3768923	782	G>R	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA350036844 rs1227518899	783	E>D		No	ClinGen TOPMed gnomAD
CA350036860 rs1266062332	784	I>M		No	ClinGen gnomAD
rs746821393 CA2069372	784	I>V		No	ClinGen ExAC TOPMed
rs1017339253 CA63660683	786	I>V		No	ClinGen TOPMed gnomAD
rs148318298 CA2069373	790	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1404749 COSM1404750 CA350036913 rs1415555640	790	R>W	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs901902418 CA63660725	794	D>N		No	ClinGen TOPMed gnomAD
TCGA novel	797	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1238554121 CA350036990	801	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA350037002 rs1173446222	802	E>K		No	ClinGen TOPMed
CA2069430 rs763637933	803	P>H		No	ClinGen ExAC TOPMed gnomAD
CA350037180 rs1366664314	803	P>S		No	ClinGen TOPMed gnomAD
CA350037178 rs1366664314	803	P>T		No	ClinGen TOPMed gnomAD
TCGA novel	804	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773886199 CA2069431	805	S>L		No	ClinGen ExAC gnomAD
CA2069433 rs767371523	807	F>V		No	ClinGen ExAC TOPMed gnomAD
CA350037210 rs1362665349	808	A>S		No	ClinGen gnomAD
rs868095541 CA63662019	808	A>V		No	ClinGen Ensembl
CA350037227 rs1395539619	810	E>G		No	ClinGen gnomAD
rs1161618753 CA350037231	811	N>D		No	ClinGen gnomAD
rs146004294 CA2069434	811	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2069435 rs746919986	812	F>I		No	ClinGen ExAC TOPMed gnomAD
CA350037249 rs1378717036	813	K>R		No	ClinGen Ensembl
rs1575689108 CA350145787	814	V>A		No	ClinGen Ensembl
CA350037253 rs1267948499	814	V>L		No	ClinGen gnomAD
rs951487901 CA64398950	817	P>Q		No	ClinGen Ensembl
CA2069570 rs770217245	818	E>A		No	ClinGen ExAC gnomAD
CA350145820 rs1434195759	819	I>M		No	ClinGen TOPMed gnomAD
CA2069571 rs776076249	819	I>V		No	ClinGen ExAC gnomAD
rs1488340435 CA350145837	822	R>G		No	ClinGen TOPMed
rs1287524654 CA350145844	823	E>K		No	ClinGen TOPMed
rs966365803 CA64398951	824	G>V		No	ClinGen TOPMed gnomAD
rs1349841261 CA350145893	829	I>T		No	ClinGen TOPMed
rs1480841338 CA350145923	831	D>E		No	ClinGen TOPMed
CA350145921 rs1470529290	831	D>G		No	ClinGen gnomAD
rs1427315590 CA350145936	833	Y>C		No	ClinGen TOPMed
CA2069594 rs765958813	833	Y>N		No	ClinGen ExAC
CA350145940 rs759033861	834	E>*		No	ClinGen ExAC gnomAD
CA350145942 rs1305529626	834	E>A		No	ClinGen gnomAD
CA2069596 rs759033861	834	E>K		No	ClinGen ExAC gnomAD
CA2069597 CA350145948 rs764713039	835	V>L		No	ClinGen ExAC TOPMed gnomAD
CA350145966 rs1463778870	837	W>C		No	ClinGen TOPMed
rs773820457 CA64399255	837	W>R		No	ClinGen TOPMed gnomAD
rs758363053 CA2069600	842	S>A		No	ClinGen ExAC gnomAD
CA2069601 rs191943915	843	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350146007 rs1299177599	844	T>A		No	ClinGen gnomAD
TCGA novel	848	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350146033 rs1167791761	848	G>D		No	ClinGen gnomAD
TCGA novel	848	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757012265 CA2069603	849	A>P		No	ClinGen ExAC TOPMed gnomAD
rs757012265 CA2069604	849	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1284861444 CA350146040	850	P>T		No	ClinGen gnomAD
CA2069606 rs761518491 COSM1015266	851	S>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2069608 rs749336959	852	T>I		No	ClinGen ExAC TOPMed gnomAD
rs749336959 CA64399256	852	T>N		No	ClinGen ExAC TOPMed gnomAD
CA2069611 rs748463365	853	D>G		No	ClinGen ExAC gnomAD
rs201258364 CA2069610	853	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	855	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM442166 CA350146084 rs1432597079 COSM169249	856	K>N	large_intestine Variant assessed as Somatic; impact. breast [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1216093881 CA350146080	856	K>T		No	ClinGen gnomAD
CA350146087 rs1420865495	857	S>C		No	ClinGen TOPMed
CA350146091 rs1258402102	857	S>R		No	ClinGen gnomAD
CA64399257 rs374633594	858	W>C		No	ClinGen ESP gnomAD
rs772477864 CA2069612	858	W>R		No	ClinGen ExAC TOPMed gnomAD
CA2069613 rs141692435	860	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA64399258 COSM106839 rs140303529	861	T>I	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs762393568 CA2069617	862	L>P		No	ClinGen ExAC TOPMed gnomAD
rs775004973 CA2069616	862	L>V		No	ClinGen ExAC gnomAD
rs1257355742 CA350146135	865	I>V		No	ClinGen TOPMed
rs764026066 CA2069618	868	T>S		No	ClinGen ExAC gnomAD
CA2069619 rs143404274	869	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs543002235 CA64399260	871	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs543002235 CA2069621	871	A>T	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1006600950 CA64399261	872	M>I		No	ClinGen Ensembl
CA64399263 rs1016268020	875	L>M		No	ClinGen Ensembl
CA350146204 rs1317094207	876	G>C		No	ClinGen gnomAD
CA350146209 rs755038975	877	V>F		No	ClinGen ExAC gnomAD
rs556934389 CA2069627	877	V>G		No	ClinGen 1000Genomes ExAC gnomAD
CA2069626 COSM209710 rs755038975	877	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine stomach [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs755038975 CA350146208	877	V>L		No	ClinGen ExAC gnomAD
CA350146222 rs1465656823	879	L>R		No	ClinGen TOPMed
CA350146219 rs1301256486	879	L>V		No	ClinGen TOPMed
rs772371327 CA2069630	881	A>S		No	ClinGen ExAC gnomAD
CA350146238 rs1357398610	882	T>I		No	ClinGen gnomAD
rs1171081081 CA350146245	883	C>F		No	ClinGen TOPMed
rs1204792345 CA350146257	885	G>D		No	ClinGen TOPMed gnomAD
rs1204792345 CA350146259	885	G>V		No	ClinGen TOPMed gnomAD
CA2069633 rs141567470	891	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA2069634 rs775058358	891	T>I		No	ClinGen ExAC gnomAD
CA2069632 rs141567470	891	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs762518537 CA2069635	895	S>L		No	ClinGen ExAC TOPMed gnomAD
rs761782610 CA2069638	900	R>*		No	ClinGen ExAC gnomAD
CA2069639 rs772897853	900	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2069640 rs750250767	901	S>R		No	ClinGen ExAC gnomAD
rs199995525 CA2069641	903	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350146391 rs1274700449	907	N>D		No	ClinGen TOPMed
CA350146422 rs1314551002	911	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs7583537 CA2069646	913	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs755165430 CA2069644	913	Y>C		No	ClinGen ExAC gnomAD
CA2069643 rs754105818	913	Y>H		No	ClinGen ExAC gnomAD
rs758975941 CA64399265	914	D>H		No	ClinGen ExAC TOPMed gnomAD
rs758975941 CA2069647	914	D>N		No	ClinGen ExAC TOPMed gnomAD
CA2069648 rs181038825	915	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA350146466 rs1559372993	918	H>N		No	ClinGen Ensembl
TCGA novel	922	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1323271636 CA350146500	922	M>T		No	ClinGen TOPMed
CA2069650 rs771283284	924	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs184981869 CA64399266	925	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2069651 rs184981869	925	Q>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1230867147 CA350146530	926	K>R		No	ClinGen gnomAD
rs768198234 CA2069654	928	C>F		No	ClinGen ExAC TOPMed gnomAD
rs768198234 CA2069653	928	C>S		No	ClinGen ExAC TOPMed gnomAD
CA64399267 rs934383753	929	S>C		No	ClinGen Ensembl
TCGA novel	929	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772057016 CA2069657	930	E>K		No	ClinGen ExAC TOPMed gnomAD
rs772057016 CA2069656	930	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA350146559 rs1432715974	931	A>T		No	ClinGen gnomAD

No associated diseases with O60462

6 regional properties for O60462

Type	Name	Position	InterPro Accession
domain	Coagulation factor 5/8 C-terminal domain	276 - 427	IPR000421-1
domain	Coagulation factor 5/8 C-terminal domain	433 - 592	IPR000421-2
domain	CUB domain	28 - 142	IPR000859-1
domain	CUB domain	149 - 267	IPR000859-2
domain	MAM domain	641 - 802	IPR000998
domain	Neuropilin, C-terminal	852 - 931	IPR022579

Functions

		Description
EC Number
Subcellular Localization	Membrane ; Single-pass type I membrane protein ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 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.
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
glutamatergic synapse	A synapse that uses glutamate as a neurotransmitter.
integral component of membrane	The component of a 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 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.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
semaphorin receptor complex	A stable binary complex of a neurophilin and a plexin, together forming a functional semaphorin receptor.

8 GO annotations of molecular function

Name	Definition
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.
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.
identical protein binding	Binding to an identical protein or proteins.
metal ion binding	Binding to a metal ion.
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 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.

24 GO annotations of biological process

Name	Definition
angiogenesis	Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.
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.
cell adhesion	The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
cellular response to leukemia inhibitory factor	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 leukemia inhibitory factor stimulus.
dorsal root ganglion morphogenesis	The developmental process by which a dorsal root ganglion is generated and organized.
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.
negative chemotaxis	The directed movement of a motile cell or organism towards a lower concentration of a chemical.
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 involved in autonomic nervous system development	Any neural crest cell migration that is involved in autonomic nervous system development.
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.
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.
regulation of postsynapse organization	Any process that modulates the physical form of a postsynapse.
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.
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.
trigeminal ganglion development	The process whose specific outcome is the progression of a trigeminal ganglion over time, from its formation to the mature structure.
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.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O14786	NRP1	Neuropilin-1	Homo sapiens (Human)	PR
Q96PD2	DCBLD2	Discoidin, CUB and LCCL domain-containing protein 2	Homo sapiens (Human)	PR
O35375	Nrp2	Neuropilin-2	Mus musculus (Mouse)	PR
O35276	Nrp2	Neuropilin-2	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MDMFPLTWVF	LALYFSRHQV	RGQPDPPCGG	RLNSKDAGYI	TSPGYPQDYP	SHQNCEWIVY
70	80	90	100	110	120
APEPNQKIVL	NFNPHFEIEK	HDCKYDFIEI	RDGDSESADL	LGKHCGNIAP	PTIISSGSML
130	140	150	160	170	180
YIKFTSDYAR	QGAGFSLRYE	IFKTGSEDCS	KNFTSPNGTI	ESPGFPEKYP	HNLDCTFTIL
190	200	210	220	230	240
AKPKMEIILQ	FLIFDLEHDP	LQVGEGDCKY	DWLDIWDGIP	HVGPLIGKYC	GTKTPSELRS
250	260	270	280	290	300
STGILSLTFH	TDMAVAKDGF	SARYYLVHQE	PLENFQCNVP	LGMESGRIAN	EQISASSTYS
310	320	330	340	350	360
DGRWTPQQSR	LHGDDNGWTP	NLDSNKEYLQ	VDLRFLTMLT	AIATQGAISR	ETQNGYYVKS
370	380	390	400	410	420
YKLEVSTNGE	DWMVYRHGKN	HKVFQANNDA	TEVVLNKLHA	PLLTRFVRIR	PQTWHSGIAL
430	440	450	460	470	480
RLELFGCRVT	DAPCSNMLGM	LSGLIADSQI	SASSTQEYLW	SPSAARLVSS	RSGWFPRIPQ
490	500	510	520	530	540
AQPGEEWLQV	DLGTPKTVKG	VIIQGARGGD	SITAVEARAF	VRKFKVSYSL	NGKDWEYIQD
550	560	570	580	590	600
PRTQQPKLFE	GNMHYDTPDI	RRFDPIPAQY	VRVYPERWSP	AGIGMRLEVL	GCDWTDSKPT
610	620	630	640	650	660
VETLGPTVKS	EETTTPYPTE	EEATECGENC	SFEDDKDLQL	PSGFNCNFDF	LEEPCGWMYD
670	680	690	700	710	720
HAKWLRTTWA	SSSSPNDRTF	PDDRNFLRLQ	SDSQREGQYA	RLISPPVHLP	RSPVCMEFQY
730	740	750	760	770	780
QATGGRGVAL	QVVREASQES	KLLWVIREDQ	GGEWKHGRII	LPSYDMEYQI	VFEGVIGKGR
790	800	810	820	830	840
SGEIAIDDIR	ISTDVPLENC	MEPISAFAGE	NFKVDIPEIH	EREGYEDEID	DEYEVDWSNS
850	860	870	880	890	900
SSATSGSGAP	STDKEKSWLY	TLDPILITII	AMSSLGVLLG	ATCAGLLLYC	TCSYSGLSSR
910	920	930
SCTTLENYNF	ELYDGLKHKV	KMNHQKCCSE	A