AiPD: Autoinhibited Protein Database

Q5VWQ8

Gene name	DAB2IP (AF9Q34, AIP1, KIAA1743)
Protein name	Disabled homolog 2-interacting protein
Names	DAB2 interaction protein, DAB2-interacting protein, ASK-interacting protein 1, AIP-1, DOC-2/DAB-2 interactive protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:153090
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

815-1020 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

815-1020 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q5VWQ8

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q5VWQ8-F1	Predicted				AlphaFoldDB

951 variants for Q5VWQ8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA5222683 RCV000678671 rs765361316	920	P>L	Keratoconus [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1284159041 CA374835493	2	S>F		No	ClinGen gnomAD
CA374835495 rs1352949113	3	A>T		No	ClinGen gnomAD
rs892057223 CA200074545	3	A>V		No	ClinGen TOPMed
rs1293514054 CA374835504	4	G>D		No	ClinGen gnomAD
rs1293514054 CA374835502	4	G>V		No	ClinGen gnomAD
rs752339144 CA200074549	7	A>G		No	ClinGen Ensembl
rs1328135976 CA374835521	7	A>S		No	ClinGen TOPMed gnomAD
rs1328135976 CA374835519	7	A>T		No	ClinGen TOPMed gnomAD
rs1057114881 CA200074551	8	R>W		No	ClinGen TOPMed
CA374835542 rs1286148134	10	S>I		No	ClinGen gnomAD
rs576970717 CA5221902	11	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs553951606 CA200074554 CA5221903	12	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374835567 rs1371750627	14	S>F		No	ClinGen gnomAD
rs1190231583 CA374835573	15	S>F		No	ClinGen gnomAD
rs1022476226 CA200074559	16	Y>C		No	ClinGen TOPMed gnomAD
rs1476572644 CA374835586	17	Y>C		No	ClinGen TOPMed gnomAD
rs1157072171 CA374835602	20	L>M		No	ClinGen TOPMed gnomAD
rs999615942 CA200074563	20	L>R		No	ClinGen Ensembl
rs750813455 CA5221904	22	R>T		No	ClinGen ExAC gnomAD
CA200074565 rs1030975206	22	R>W		No	ClinGen TOPMed gnomAD
rs1334023579 CA374835616	23	R>G		No	ClinGen gnomAD
CA374835622 rs1034391397	24	P>S		No	ClinGen TOPMed gnomAD
rs1034391397 CA200074569	24	P>T		No	ClinGen TOPMed gnomAD
rs955353647 CA200074572	25	R>L		No	ClinGen TOPMed gnomAD
CA374835664 rs1335412984	31	S>C		No	ClinGen TOPMed
rs1349474418 CA374835670	31	S>R		No	ClinGen gnomAD
CA374835673 rs1236381230	32	R>C		No	ClinGen TOPMed gnomAD
CA374835672 rs1236381230	32	R>G		No	ClinGen TOPMed gnomAD
rs1317153863 CA374835674	32	R>H		No	ClinGen TOPMed gnomAD
rs1317153863 CA374835675	32	R>P		No	ClinGen TOPMed gnomAD
rs1280930148 CA374835678	33	S>P		No	ClinGen gnomAD
rs1351055121 CA374835688	34	R>L		No	ClinGen gnomAD
CA374835691 rs1218488050	35	S>C		No	ClinGen TOPMed gnomAD
rs974297940 CA200074577	35	S>R		No	ClinGen TOPMed
CA374835696 rs1278089849	36	R>G		No	ClinGen gnomAD
CA374835706 rs1350009799	37	T>I		No	ClinGen TOPMed gnomAD
CA374835707 rs1213079912	38	R>G		No	ClinGen gnomAD
CA374835711 rs1258253056	38	R>P		No	ClinGen gnomAD
rs1025453988 CA200074579	41	R>G		No	ClinGen TOPMed gnomAD
rs1025453988 CA374835724	41	R>W		No	ClinGen TOPMed gnomAD
CA5221916 rs377594976	43	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374836050 rs1193378698	44	P>S		No	ClinGen gnomAD
TCGA novel	47	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA200080587 CA5221918 rs767098352	47	R>S		No	ClinGen ExAC gnomAD
CA5221919 rs371024306	48	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA374836083 rs1183396521	49	G>D		No	ClinGen TOPMed
CA5221923 rs377424901	51	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5221922 rs377424901	51	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA5221921 rs373206873	51	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs766491387 CA5221924	52	R>C		No	ClinGen ExAC TOPMed gnomAD
rs538602254 CA5221925	52	R>H	Variant assessed as Somatic; 5.307e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1404339206 CA374836104	53	S>R		No	ClinGen gnomAD
rs755221839 CA5221926	55	P>H		No	ClinGen ExAC gnomAD
rs781178703 CA5221927	56	G>S		No	ClinGen ExAC gnomAD
rs7027492 CA5221929 VAR_056858	59	S>F		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA374836145 CA5221932 rs770806496	60	E>D		No	ClinGen ExAC TOPMed gnomAD
rs749004915 CA5221931	60	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA374836148 rs1213259850	61	K>E		No	ClinGen gnomAD
rs367691446 CA5221933	63	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA374836167 rs1214777545	64	S>G		No	ClinGen gnomAD
CA374836171 rs1157404608	64	S>T		No	ClinGen TOPMed
CA374836183 rs1427310271	65	M>I		No	ClinGen gnomAD
CA374836179 rs1261603036	65	M>T		No	ClinGen TOPMed gnomAD
CA5221934 rs201300206	68	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1162276762 CA374836205	69	A>T		No	ClinGen gnomAD
CA200080606 rs879061550	70	A>T		No	ClinGen TOPMed gnomAD
CA5221937 rs199540285 COSM1459767	71	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs199540285 CA200080608	71	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5221940 rs763394734	72	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5221939 rs773821924	72	P>S		No	ClinGen ExAC TOPMed gnomAD
CA5221942 rs751923573	73	F>L		No	ClinGen ExAC gnomAD
CA5221944 rs375552302	74	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5221945 rs375552302	74	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759693049 CA5221943	74	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1354568987 CA374836236	75	V>G		No	ClinGen gnomAD
TCGA novel	75	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374836238 rs1234257375	76	T>A		No	ClinGen gnomAD
CA5221946 COSM1202949 rs368660589	76	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs747666068 CA5221977	77	G>S		No	ClinGen ExAC gnomAD
CA374835758 rs1485286774	79	L>V		No	ClinGen TOPMed
CA374835764 rs1589538417	80	S>R		No	ClinGen Ensembl
rs1347902739 CA374835773	81	R>S		No	ClinGen gnomAD
rs759871065 CA5221980	82	R>H		No	ClinGen ExAC gnomAD
rs1203286431 CA374835777	82	R>S		No	ClinGen gnomAD
CA374835786 rs1589538448	83	L>P		No	ClinGen Ensembl
rs772372729 CA5221981	84	K>E		No	ClinGen ExAC gnomAD
rs1177445362 CA374835802	86	S>P		No	ClinGen gnomAD
CA374835801 rs1177445362	86	S>T		No	ClinGen gnomAD
rs775746799 CA5221983	87	I>L		No	ClinGen ExAC TOPMed gnomAD
rs764283639 CA5221984	87	I>N		No	ClinGen ExAC TOPMed gnomAD
rs775746799 CA5221982	87	I>V		No	ClinGen ExAC TOPMed gnomAD
CA5221987 rs762024841	89	R>C		No	ClinGen ExAC gnomAD
CA5221986 rs762024841	89	R>G		No	ClinGen ExAC gnomAD
rs750341980 CA5221988	90	T>I		No	ClinGen ExAC gnomAD
rs750341980 CA5221989	90	T>S		No	ClinGen ExAC gnomAD
CA200085425 rs1015579724	91	K>E		No	ClinGen TOPMed gnomAD
TCGA novel	92	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5221991 rs751321506	92	S>R		No	ClinGen ExAC gnomAD
rs1394123087 CA374835847	93	Q>H		No	ClinGen gnomAD
CA5221992 rs754643661	93	Q>R		No	ClinGen ExAC gnomAD
rs1381561242 CA374835850	94	P>A		No	ClinGen TOPMed
CA374835853 rs1439178579	94	P>L		No	ClinGen gnomAD
CA374835865 rs1298884456	96	L>P		No	ClinGen TOPMed
CA5221994 rs200769141	97	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374835874 rs1213451421	98	R>C		No	ClinGen TOPMed gnomAD
CA5221995 rs755669000	98	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1473352300 CA374835904	102	F>I		No	ClinGen TOPMed
rs1191425719 CA374835908	102	F>L		No	ClinGen TOPMed
CA5221997 rs746332733	102	F>Y		No	ClinGen ExAC TOPMed gnomAD
rs772572009 CA5221998	103	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs775911614 CA5221999	104	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1589538637 CA374835920	104	H>R		No	ClinGen Ensembl
rs747400599 CA5222000	105	I>F		No	ClinGen ExAC TOPMed gnomAD
rs747400599 CA374835923	105	I>V		No	ClinGen ExAC TOPMed gnomAD
CA374835935 rs1184732304	107	P>S		No	ClinGen TOPMed gnomAD
rs773432947 CA5222005	109	F>C		No	ClinGen ExAC TOPMed gnomAD
rs953899352 CA200085444	109	F>L		No	ClinGen TOPMed
rs773432947 CA374835949	109	F>S		No	ClinGen ExAC TOPMed gnomAD
CA5222006 rs762923819	110	R>L		No	ClinGen ExAC TOPMed gnomAD
rs754765656 CA5222013	112	A>G		No	ClinGen ExAC gnomAD
rs751361568 CA5222012	112	A>T		No	ClinGen ExAC TOPMed gnomAD
rs754765656 CA374835966	112	A>V		No	ClinGen ExAC gnomAD
rs767176388 CA5222014	113	A>V		No	ClinGen ExAC TOPMed gnomAD
CA374835977 rs1363376652	114	A>V		No	ClinGen gnomAD
CA374836003 rs1234880667	118	D>E		No	ClinGen gnomAD
rs755793460 CA5222017	119	N>S		No	ClinGen ExAC TOPMed gnomAD
CA5222018 rs777196832	120	E>K		No	ClinGen ExAC gnomAD
CA5222039 rs752492324	121	R>S		No	ClinGen ExAC TOPMed gnomAD
rs202163855 CA5222040	122	S>F		No	ClinGen ExAC TOPMed gnomAD
rs373885033 CA5222041	126	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA374836291 rs1461468344	126	P>S		No	ClinGen gnomAD
CA374836296 rs1334389410	127	R>K		No	ClinGen gnomAD
CA5222044 rs150226818	128	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5222045 rs751974334	130	E>D		No	ClinGen ExAC TOPMed gnomAD
CA200093812 rs188350283	131	S>P		No	ClinGen 1000Genomes
CA200093814 rs138827521	132	R>C		No	ClinGen ESP TOPMed
rs138827521 CA200093813	132	R>G		No	ClinGen ESP TOPMed
rs201767314 CA5222046 COSM1202941 COSM1202940	132	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs201767314 CA5222047	132	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs922406000 CA200093815	134	H>N		No	ClinGen TOPMed
CA374836340 rs1345798296	135	E>K		No	ClinGen TOPMed gnomAD
CA374836377 rs1230007031	140	P>R		No	ClinGen TOPMed
CA5222049 rs370182641	141	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs985721356 CA200093817	141	S>R		No	ClinGen TOPMed
TCGA novel	141	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs556227873 CA5222050	143	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA5222051 rs576059169	143	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374836397 rs148946129	144	V>L		No	ClinGen ESP ExAC gnomAD
rs148946129 CA5222053	144	V>M		No	ClinGen ESP ExAC gnomAD
CA5222054 rs373166769	146	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs760504648 CA5222057	149	L>F		No	ClinGen ExAC gnomAD
CA5222058 rs763713745	153	E>G		No	ClinGen ExAC gnomAD
rs557227543 CA5222059	154	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761561742 CA5222060	155	V>L		No	ClinGen ExAC TOPMed gnomAD
CA200093820 rs781780636	160	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5222064 rs781780636	160	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA374836510 rs1464334934	161	H>Y		No	ClinGen TOPMed
CA374836531 rs1564204628	163	S>R		No	ClinGen Ensembl
CA200093821 rs201351997	166	G>S		No	ClinGen Ensembl
rs1338860947 CA374836571	169	Y>C		No	ClinGen gnomAD
rs753077703 CA5222065	170	C>S		No	ClinGen ExAC gnomAD
CA374836589 rs1458488234	172	E>K		No	ClinGen gnomAD
CA200094026 rs1032410166	173	V>M		No	ClinGen TOPMed
rs754243563 CA5222087 COSM3323018 COSM3323017	174	T>M	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA374836624 rs1349220521	175	T>M		No	ClinGen TOPMed gnomAD
CA200094028 rs988112588	176	S>A		No	ClinGen TOPMed
CA5222092 rs780140648	176	S>L		No	ClinGen ExAC gnomAD
rs1485061296 CA374836633	177	S>*		No	ClinGen TOPMed gnomAD
rs1485061296 CA374836634	177	S>L		No	ClinGen TOPMed gnomAD
TCGA novel	181	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746884928 CA5222093	183	S>P		No	ClinGen ExAC gnomAD
CA374836689 rs1180875353	185	R>L		No	ClinGen gnomAD
CA374836687 COSM1597933 COSM1104777 rs1180875353	185	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA5222094 rs147323804	185	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748045477 CA5222096	189	E>A		No	ClinGen ExAC gnomAD
CA374836719 rs1202760174	190	R>Q		No	ClinGen TOPMed
CA374836716 rs1159181250	190	R>W		No	ClinGen gnomAD
CA200094034 rs200002701	191	D>A		No	ClinGen Ensembl
rs769297007 CA374836720	191	D>N		No	ClinGen ExAC TOPMed gnomAD
rs769297007 CA5222097	191	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA5222099 rs762533050	192	K>R		No	ClinGen ExAC TOPMed gnomAD
CA5222100 rs765943680	196	N>T		No	ClinGen ExAC gnomAD
rs1396949488 CA374836767	197	L>V		No	ClinGen gnomAD
CA5222102 COSM202949 rs368193656	198	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA5222101 rs774000651	198	R>W		No	ClinGen ExAC TOPMed gnomAD
rs567507053 CA5222104	199	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1346505463 CA374836781	200	A>S		No	ClinGen gnomAD
CA374836779 rs1346505463	200	A>T		No	ClinGen gnomAD
CA5222105 rs761730279	200	A>V		No	ClinGen ExAC TOPMed gnomAD
CA374836785 rs1483403678	201	V>M		No	ClinGen gnomAD
CA5222108 rs758625862	203	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1164382256 CA374836805	204	N>Y		No	ClinGen gnomAD
rs1182386895 CA374836845	207	N>S		No	ClinGen TOPMed
CA374836843 rs1182386895	207	N>T		No	ClinGen TOPMed
CA5222140 rs778748092	208	S>I		No	ClinGen ExAC TOPMed gnomAD
CA5222142 rs150710857	209	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745539654 CA5222141	209	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1167517752 COSM1196149 COSM1196150 CA374836859	210	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs774869246 CA5222143	210	R>H		No	ClinGen ExAC TOPMed gnomAD
rs762325506 CA5222144	214	I>N		No	ClinGen ExAC gnomAD
rs1295756826 CA374836905	217	L>V		No	ClinGen TOPMed gnomAD
rs572099548 CA5222145	218	W>S		No	ClinGen 1000Genomes ExAC gnomAD
CA374836929 rs1478138753	220	I>M		No	ClinGen TOPMed gnomAD
CA374836948 rs1587969441	223	K>R		No	ClinGen Ensembl
rs1587969447 CA374836955	224	D>A		No	ClinGen Ensembl
rs1028731832	230	K>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	231	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766570316 CA5222148	232	L>P		No	ClinGen ExAC gnomAD
CA374837021 rs1241440916	234	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs750000351 CA200094144	235	L>V		No	ClinGen ExAC gnomAD
CA200094145 rs199878386	236	C>F		No	ClinGen Ensembl
rs752730852 CA374837053	239	D>H		No	ClinGen ExAC TOPMed gnomAD
rs752730852 CA5222152	239	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	241	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756062570 CA5222153	244	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1463043286 CA374837088	244	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA374837098 rs1587969624	246	T>A		No	ClinGen Ensembl
CA5222155 rs753654367	246	T>M		No	ClinGen ExAC TOPMed gnomAD
CA374837117 rs1158735835	249	L>F		No	ClinGen TOPMed
rs745448536 CA5222158	251	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1564207786 CA374837141	252	D>E		No	ClinGen Ensembl
CA5222160 rs542505002	253	N>D		No	ClinGen 1000Genomes ExAC gnomAD
CA5222161 rs367747884	253	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1489645 COSM455285 CA374837162 rs34727342	255	F>L	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1564207849 CA374837178	258	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs749814418 CA5222164	259	H>R		No	ClinGen ExAC gnomAD
rs1355937636 CA374837207	261	E>D		No	ClinGen gnomAD
TCGA novel	261	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA200094147 rs928277864	263	H>L		No	ClinGen TOPMed
CA374837229 rs1217484503	264	N>S		No	ClinGen gnomAD
rs200997326 CA5222166	266	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200997326 CA374837242	266	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1414762318 CA374837241	266	P>S		No	ClinGen TOPMed gnomAD
CA374837246 rs1440857421	267	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs376851410 CA200094149	268	L>P		No	ClinGen ESP
rs759742711 CA5222167	269	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs767688313 CA5222168	269	R>H		No	ClinGen ExAC gnomAD
rs767688313 CA374837256	269	R>L		No	ClinGen ExAC gnomAD
CA200094150 rs962634105	270	T>A		No	ClinGen Ensembl
CA5222169 rs775633569	270	T>M		No	ClinGen ExAC TOPMed gnomAD
CA5222171 rs764100792	271	V>I		No	ClinGen ExAC gnomAD
rs1316033381 CA374837271	272	T>I		No	ClinGen gnomAD
CA374837274 rs1564207973	273	V>L		No	ClinGen Ensembl
rs1172531220 CA374837283	274	H>R		No	ClinGen gnomAD
CA374837302 rs1422475960	277	R>Q		No	ClinGen TOPMed gnomAD
CA374837301 rs1428145625	277	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1353651285 CA374837318	279	T>I		No	ClinGen gnomAD
rs1334410001 CA374837314	279	T>P		No	ClinGen gnomAD
rs200273040 CA5222175	280	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	282	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs41273440 CA374837348	283	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1342965408 CA374837359	285	K>E		No	ClinGen gnomAD
rs1221096602 CA374837376	287	R>C		No	ClinGen gnomAD
rs746510057 CA5222179	287	R>H		No	ClinGen ExAC TOPMed gnomAD
CA374837392 rs1457596089	289	S>I		No	ClinGen gnomAD
CA374837435 rs1587970171	296	L>Q		No	ClinGen Ensembl
CA374837434 rs1289720007	296	L>V		No	ClinGen TOPMed
CA5222182 rs369573008	300	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs774683969 CA5222184	302	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5222185 rs746284232	302	A>V		No	ClinGen ExAC gnomAD
rs549343357 CA200094153	303	G>R		No	ClinGen 1000Genomes gnomAD
CA200094154 rs781334110	304	R>Q		No	ClinGen Ensembl
CA5222187 rs373749384	304	R>W		No	ClinGen ESP ExAC gnomAD
rs764203323 CA5222189	307	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1321520385 CA374837513	309	K>M		No	ClinGen TOPMed gnomAD
CA374837512 rs1321520385	309	K>R		No	ClinGen TOPMed gnomAD
CA5222190 rs776864888	312	P>L		No	ClinGen ExAC gnomAD
rs750205545 CA5222193	313	V>A		No	ClinGen ExAC gnomAD
rs1317573596 CA374837540	313	V>L		No	ClinGen gnomAD
rs201266598 CA200094156	314	V>M		No	ClinGen Ensembl
COSM1597932 COSM1104778 CA5222194 rs758180015	315	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1209709839 CA374837555	316	P>S		No	ClinGen gnomAD
rs1265956656 CA374837560	317	N>D		No	ClinGen gnomAD
CA200094158 rs567863257	318	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA5222196 rs567863257	318	P>T		No	ClinGen 1000Genomes ExAC gnomAD
rs770848656 CA200094159	321	G>D		No	ClinGen gnomAD
CA5222199 rs752259549	321	G>S		No	ClinGen ExAC TOPMed gnomAD
rs757755626 CA5222200	322	K>E		No	ClinGen ExAC TOPMed gnomAD
CA374837596 rs1161361470	323	G>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1392877506 CA374762130	324	P>R		No	ClinGen gnomAD
rs779435386 CA5222201	325	G>R		No	ClinGen ExAC gnomAD
rs1398337063	327	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA5222202 rs746220119	327	M>V		No	ClinGen ExAC TOPMed gnomAD
rs928193365 CA199411986	329	R>C		No	ClinGen TOPMed
CA5222203 rs772275381	329	R>H		No	ClinGen ExAC gnomAD
rs1190740114 CA374762177	332	A>T		No	ClinGen TOPMed
CA199411990 rs201959346	332	A>V		No	ClinGen TOPMed gnomAD
COSM1202944 rs747142859 CA5222205 COSM1202943	333	R>C	pancreas large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA374762184 COSM1202938 COSM1202939 rs1307239821	333	R>H	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA374762188 rs1359014781	334	Y>H		No	ClinGen gnomAD
rs776848343 CA5222207	337	I>V		No	ClinGen ExAC gnomAD
CA374762255 rs1263506985	340	L>P		No	ClinGen gnomAD
CA199411997 rs1025468666	342	M>L		No	ClinGen TOPMed
COSM3699390 CA374762271 COSM3699391 rs1025468666	342	M>V	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1564208556 CA374762335	346	K>R		No	ClinGen Ensembl
CA374762351 rs201057911	347	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1321047500 CA374762343	347	E>Q		No	ClinGen TOPMed
CA374762363 rs762984127	348	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1564208612 CA374762367	349	A>T		No	ClinGen Ensembl
CA199412002 COSM243952 rs201397224	352	I>V	prostate [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1221752941 CA374762428	353	T>A		No	ClinGen gnomAD
rs1221752941 CA374762424	353	T>P		No	ClinGen gnomAD
rs927024222 CA199412004	354	N>S		No	ClinGen TOPMed
CA374762464 rs1417990315	355	H>Q		No	ClinGen gnomAD
CA374762459 rs1359923364	355	H>R		No	ClinGen gnomAD
CA374762454 rs1157957182	355	H>Y		No	ClinGen TOPMed gnomAD
rs751379933 CA5222213	356	Y>H		No	ClinGen ExAC gnomAD
rs759173679 CA5222214	356	Y>S		No	ClinGen ExAC gnomAD
TCGA novel	358	G>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA199412010 rs112361531	358	G>W		No	ClinGen 1000Genomes
rs1441423859 CA374762519	360	C>Y		No	ClinGen TOPMed
rs755669016 CA374762537	361	A>G		No	ClinGen ExAC gnomAD
CA5222217 rs755669016	361	A>V		No	ClinGen ExAC gnomAD
rs777365348 CA5222218	362	A>G		No	ClinGen ExAC gnomAD
CA5222219 rs750828423	364	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1198375266 CA374762585	365	P>L		No	ClinGen gnomAD
CA374762597 rs1257960861	367	L>F		No	ClinGen gnomAD
CA199412017 rs192522695	370	K>R		No	ClinGen 1000Genomes
rs747475158 CA5222222	371	T>N		No	ClinGen ExAC TOPMed gnomAD
CA374762708 rs1233219277	373	E>K		No	ClinGen TOPMed gnomAD
CA374762788 rs1160474960	376	A>T		No	ClinGen gnomAD
CA374762800 rs1364468400	376	A>V		No	ClinGen gnomAD
rs1465699049 CA374762835	378	A>V		No	ClinGen gnomAD
CA374762852 rs1404775614	380	V>M		No	ClinGen gnomAD
rs1277920769 CA374762875	381	H>Y		No	ClinGen gnomAD
CA5222224 rs200565908	382	I>T		No	ClinGen ExAC TOPMed gnomAD
CA5222225 rs772387438	385	S>N		No	ClinGen ExAC TOPMed gnomAD
rs554336776 CA199412022 COSM249002	386	T>M	pancreas Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed
rs1311134528 CA374762992	387	G>D		No	ClinGen gnomAD
CA374762985 rs1309272285	387	G>S		No	ClinGen gnomAD
CA374763040 rs1255105555	390	K>Q		No	ClinGen TOPMed
CA374764019 rs1193256031	392	F>L		No	ClinGen gnomAD
CA374764041 rs1421871943	394	T>I		No	ClinGen gnomAD
rs375600016 CA5222239	395	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1472972341 CA374764059	396	L>M		No	ClinGen TOPMed
CA374764069 rs1171694194	397	M>V		No	ClinGen gnomAD
CA374764089 rs1328732005	398	M>V		No	ClinGen gnomAD
rs1349874291 CA374764161	403	R>C		No	ClinGen gnomAD
rs142519289 CA5222240	405	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs370152633 CA5222241	406	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs949143587 CA199413139	406	D>N		No	ClinGen TOPMed gnomAD
rs1275967662 CA374764222	407	N>S		No	ClinGen gnomAD
TCGA novel	407	N>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374764236 rs372829760	408	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA374764232 rs1201783012	408	E>G		No	ClinGen TOPMed
rs748318668 CA5222243	408	E>K		No	ClinGen ExAC gnomAD
rs1223678576 CA374764271	411	I>V		No	ClinGen gnomAD
rs1587978678 CA374764298	412	F>L		No	ClinGen Ensembl
CA374764304 rs1490540211	413	R>Q		No	ClinGen gnomAD
rs370747909 CA199413148	413	R>W		No	ClinGen ESP TOPMed
CA5222247 rs770740422	416	T>P		No	ClinGen ExAC gnomAD
rs1413537019 CA374764385	419	T>S		No	ClinGen gnomAD
rs745826640 CA5222249	421	A>T		No	ClinGen ExAC gnomAD
CA374764607 rs1283315280	435	Q>*		No	ClinGen gnomAD
rs149420814 CA5222255	436	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374764626 rs1229912647	436	D>G		No	ClinGen gnomAD
rs1026234898 CA374764638	437	A>P		No	ClinGen TOPMed gnomAD
COSM1202947 rs1026234898 COSM1202948 CA199413172	437	A>T	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA5222277 rs768208874	439	G>D		No	ClinGen ExAC TOPMed gnomAD
rs371930308 CA374764779	444	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs371930308 CA5222278	444	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs754053381 CA5222281	446	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA199413249 rs926402107	446	Y>N		No	ClinGen TOPMed
rs757425324 CA5222282	451	N>I		No	ClinGen ExAC
CA5222285 rs758299546	458	K>R		No	ClinGen ExAC TOPMed gnomAD
CA5222287 rs76191175 RCV000886747	460	S>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5222290 rs141706892	462	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1291858036 CA374765008	463	D>G		No	ClinGen TOPMed
rs1212752739 CA374765013	464	L>V		No	ClinGen TOPMed
CA5222291 rs769633331	465	P>S		No	ClinGen ExAC TOPMed gnomAD
rs145965964 CA5222292	466	E>K		No	ClinGen ESP ExAC gnomAD
rs1317712697 CA374765042	468	Q>R		No	ClinGen gnomAD
CA374765071 rs1275767411	472	K>M		No	ClinGen gnomAD
CA374765070 rs1275767411	472	K>R		No	ClinGen gnomAD
TCGA novel	475	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5222297 rs368910721	478	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1324170257 CA374765121	479	F>S		No	ClinGen TOPMed
rs539329547 CA5222298	482	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1564212749 CA374765155	484	N>D		No	ClinGen Ensembl
rs1350553387 CA374765157	484	N>S		No	ClinGen TOPMed
CA374765172 rs1564212771	486	Y>S		No	ClinGen Ensembl
CA5222300 rs777156640	487	C>G		No	ClinGen ExAC gnomAD
rs1246155271 CA374766298	488	V>I		No	ClinGen gnomAD
CA374766314 rs1487066362	489	F>L		No	ClinGen gnomAD
rs1185288897 CA374766346	491	R>L		No	ClinGen TOPMed gnomAD
COSM1459774 rs1185288897 CA374766344 COSM1459773	491	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA5222331 rs769184160	491	R>W		No	ClinGen ExAC TOPMed gnomAD
CA374766367 rs182562255	493	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5222335 rs145267973	498	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs145267973 CA5222334	498	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200497980 CA5222338	499	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5222337 rs200497980	499	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA374766506 rs1332758766	502	Q>H		No	ClinGen gnomAD
rs752540354 CA5222341	502	Q>R		No	ClinGen ExAC gnomAD
CA374766529 rs1587985784	504	C>G		No	ClinGen Ensembl
rs1453994333 CA374766569	506	S>T		No	ClinGen gnomAD
CA5222343 rs373995748	507	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs368453566 CA5222344	507	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs368453566 CA374766585	507	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA5222346 rs778477606	508	G>S		No	ClinGen ExAC gnomAD
CA5222347 rs745555595	509	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5222348 rs757804050	509	R>H		No	ClinGen ExAC TOPMed gnomAD
CA199414331 rs757804050	509	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5222349 rs779618321	510	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA374766603 rs1244760913	510	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1026999942 CA199414336	512	I>M		No	ClinGen Ensembl
CA5222352 rs141771432 COSM1489647 COSM455287	515	R>Q	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA5222354 rs771165994	517	I>F		No	ClinGen ExAC gnomAD
rs1465746758 CA374766690	519	A>T		No	ClinGen TOPMed gnomAD
CA5222356 rs759836528	520	S>C		No	ClinGen ExAC gnomAD
TCGA novel	522	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	523	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1408800095 COSM1489648 COSM455288 CA374766753	524	R>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA5222357 COSM1459775 COSM1459776 rs146233036	524	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1474155973 CA374766785	526	L>F		No	ClinGen TOPMed
CA374766820 rs1372410799	528	P>L		No	ClinGen TOPMed
rs1373975194 CA374766879	532	S>L	Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA374766890 rs1307243305	533	P>H		No	ClinGen gnomAD
rs764194935 CA5222360	537	N>S		No	ClinGen ExAC gnomAD
rs761650846 CA5222363	538	L>M		No	ClinGen ExAC TOPMed gnomAD
rs372284148 CA5222364	540	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5222365 rs758080280	546	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1230051963 CA374767021	547	T>S		No	ClinGen TOPMed
TCGA novel	548	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756578907 CA374767029	549	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1251345364 CA374767031	549	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5222368 rs756578907	549	R>S		No	ClinGen ExAC TOPMed gnomAD
rs374667920 CA374767053	553	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA5222371 rs374667920	553	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs746020751 CA199414364	555	A>S		No	ClinGen ExAC gnomAD
rs746020751 CA5222373	555	A>T		No	ClinGen ExAC gnomAD
CA374767089 rs1317455379	559	Q>*		No	ClinGen gnomAD
rs775708107 CA5222375	561	L>V		No	ClinGen ExAC gnomAD
CA374767129 rs1389421641	562	A>S		No	ClinGen gnomAD
rs1164866380 CA374767545	569	S>R		No	ClinGen gnomAD
CA199414858 rs113032925	573	Y>D		No	ClinGen Ensembl
rs376629723 CA5222398	574	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA374767643 rs1431292931	575	S>C		No	ClinGen gnomAD
rs762851565 CA5222399	577	M>T		No	ClinGen ExAC gnomAD
rs766187734 CA5222400	579	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs773957426 CA374767747	580	F>L		No	ClinGen ExAC gnomAD
rs1244084834 CA374767798	583	H>Q		No	ClinGen TOPMed
rs759194659 CA5222402	583	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA374767929 rs1282466350	589	Q>K		No	ClinGen gnomAD
CA5222403 COSM202951 rs766959002	590	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5222404 rs752311929	590	R>H		No	ClinGen ExAC gnomAD
CA5222408 rs758796034	598	P>H		No	ClinGen ExAC gnomAD
TCGA novel	601	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5222410 rs747169791	601	L>V		No	ClinGen ExAC gnomAD
rs200519908 CA5222411	605	A>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	606	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA199414888 rs369754590	606	G>S		No	ClinGen ESP TOPMed gnomAD
CA374768237 COSM160320 rs769592281	608	E>K	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5222414 rs769592281	608	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs749219360 CA5222417	611	I>M		No	ClinGen ExAC TOPMed gnomAD
rs376186048 CA5222415	611	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5222418 rs774148994	612	D>A		No	ClinGen ExAC gnomAD
rs1224576988 CA374768308	612	D>E		No	ClinGen gnomAD
CA374768298 rs1272768392	612	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5222420 rs767226532	615	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5222421 rs774832244	615	R>H	Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5222422 rs774832244	615	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1456920853 CA374768344	616	E>K		No	ClinGen TOPMed gnomAD
CA374768346 rs1456920853	616	E>Q		No	ClinGen TOPMed gnomAD
TCGA novel	625	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374768508 rs1411497791	627	A>V		No	ClinGen TOPMed
rs149945931 CA5222427	628	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA199415699 rs939250690	634	S>N		No	ClinGen TOPMed
rs753987009 CA374769252	634	S>R		No	ClinGen ExAC gnomAD
CA5222453 rs771235377	636	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1260750380 CA374769272	636	V>I		No	ClinGen gnomAD
rs745828771 CA5222455	637	S>F		No	ClinGen ExAC gnomAD
rs1472436185 CA374769304	638	K>R		No	ClinGen gnomAD
CA5222456 rs567035256	640	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5222459 rs768259012	644	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5222460 rs371856149	644	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA199415721 rs768259012	644	R>W		No	ClinGen ExAC TOPMed gnomAD
CA374769418 rs761453153	648	D>N		No	ClinGen ExAC gnomAD
rs769448967 CA5222462	648	D>V		No	ClinGen ExAC gnomAD
CA5222461 rs761453153	648	D>Y		No	ClinGen ExAC gnomAD
CA5222464 rs533567792	649	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA199415749 rs886192411	654	S>C		No	ClinGen TOPMed
rs1446387261 CA374769528	656	P>A		No	ClinGen TOPMed
rs901533552 CA199415760	659	G>E		No	ClinGen TOPMed
rs753065676 CA5222467	659	G>R		No	ClinGen ExAC TOPMed gnomAD
CA374769579 rs1390836438	660	Q>E		No	ClinGen gnomAD
TCGA novel	660	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148506189 CA5222469	662	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA374769641 rs1286037265	664	T>N		No	ClinGen TOPMed
rs1429193595 CA374769657	665	N>K		No	ClinGen TOPMed
CA374769667 rs1587996194	666	D>A		No	ClinGen Ensembl
CA5222472 rs757279749	667	L>V		No	ClinGen ExAC gnomAD
CA5222475 rs199563033	671	P>L		No	ClinGen ExAC TOPMed gnomAD
CA199415786 rs199563033	671	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA5222476 rs199563033	671	P>R		No	ClinGen ExAC TOPMed gnomAD
CA374769740 rs1384361269	672	G>C		No	ClinGen TOPMed gnomAD
rs1452805500 CA374769742	672	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5222478 rs780941291	673	S>F		No	ClinGen ExAC TOPMed gnomAD
rs376071498 CA5222480	675	S>R		No	ClinGen ESP ExAC gnomAD
CA374769791 rs1236105405	676	S>C		No	ClinGen TOPMed gnomAD
CA199415810 rs978230881	676	S>N		No	ClinGen TOPMed
CA374769821 rs1035412946	678	I>F		No	ClinGen TOPMed gnomAD
rs1035412946 CA199415814	678	I>V		No	ClinGen TOPMed gnomAD
rs1279872703 CA374769839	679	S>L		No	ClinGen gnomAD
rs998011166 CA199415823	680	A>T		No	ClinGen TOPMed gnomAD
CA199415825 rs960776359	681	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1249914433 CA374769912	685	M>L		No	ClinGen gnomAD
rs1249914433 CA374769910	685	M>V		No	ClinGen gnomAD
CA199415836 rs990726047	686	V>M		No	ClinGen TOPMed gnomAD
CA374769947 rs1215323737	687	I>T		No	ClinGen Ensembl
CA199415848 rs889526825	688	E>V		No	ClinGen Ensembl
rs147687395 CA199415866	690	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs147687395 CA5222485	690	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs555959752	692	S>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA5222486 rs186101367	692	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1437918870 CA374770013	692	S>P		No	ClinGen TOPMed
CA5222488 rs776795669	693	G>S		No	ClinGen ExAC TOPMed gnomAD
CA5222514 rs773249992	694	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1588001659 CA374770087	698	T>S		No	ClinGen Ensembl
rs377052245 CA374770093	699	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs377052245 CA5222516	699	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs374349526 CA5222515	699	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs751382771 CA5222517	700	L>V		No	ClinGen ExAC gnomAD
CA199416930 rs978509298	701	P>L		No	ClinGen gnomAD
rs767409230 CA5222519	704	T>A		No	ClinGen ExAC gnomAD
CA5222520 rs557617227	704	T>I		No	ClinGen ExAC gnomAD
rs777618738 CA5222522	706	E>K	Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA374770157 rs1247984929	709	D>E		No	ClinGen TOPMed
CA5222523 rs753550849	711	F>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	713	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1293628862 CA374770194	715	R>K		No	ClinGen TOPMed
rs778491947 CA5222525	715	R>S		No	ClinGen ExAC gnomAD
CA5222526 rs747456330	716	S>C		No	ClinGen ExAC TOPMed gnomAD
COSM1104784 COSM1597927 rs747456330 CA13074945	716	S>F	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs781504665 CA5222528	718	G>R		No	ClinGen ExAC TOPMed gnomAD
CA5222529 rs370343273	719	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5222530 rs370343273	719	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA374770241 rs1322680876	723	P>L		No	ClinGen gnomAD
rs532044403 CA5222531	723	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200771794 CA5222532	725	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA5222533 rs770854977	725	R>H		No	ClinGen ExAC TOPMed gnomAD
rs774551714 CA5222534	726	S>I		No	ClinGen ExAC gnomAD
CA5222535 rs759544355	727	S>L		No	ClinGen ExAC TOPMed gnomAD
CA5222537 rs140605079	728	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs956100893 CA199416989	729	Y>C		No	ClinGen TOPMed
CA374770271 rs1564224037	729	Y>N		No	ClinGen Ensembl
rs760499189 CA5222538	730	S>L		No	ClinGen ExAC TOPMed gnomAD
rs939986833 CA199417006	731	E>A		No	ClinGen Ensembl
CA374770293 rs1490165203	732	A>D		No	ClinGen TOPMed
rs1399759591 CA374770300	733	N>S		No	ClinGen gnomAD
rs778281178 CA5222543	734	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs778281178 CA5222542	734	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs150482022 CA5222546	736	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770073724 CA5222547	740	A>T		No	ClinGen ExAC gnomAD
CA199417035 rs895729854	741	N>S		No	ClinGen TOPMed gnomAD
CA374770360 rs1223460653	742	G>D		No	ClinGen gnomAD
CA374770359 rs749461604	742	G>R		No	ClinGen ExAC TOPMed gnomAD
CA5222549 rs749461604	742	G>S		No	ClinGen ExAC TOPMed gnomAD
rs979943123 CA199417058	743	G>D		No	ClinGen TOPMed gnomAD
CA374770379 rs1319153075	745	S>N		No	ClinGen gnomAD
CA374770389 rs1564224256	746	L>R		No	ClinGen Ensembl
CA5222550 rs771253890	748	M>I		No	ClinGen ExAC TOPMed
CA374770420 rs1204944210	751	L>F		No	ClinGen gnomAD
rs759743463 CA5222552	752	Q>R		No	ClinGen ExAC gnomAD
CA5222554 rs775528650	753	D>N		No	ClinGen ExAC gnomAD
rs776553680 CA374770441	754	A>G		No	ClinGen ExAC gnomAD
rs548264077 CA5222556	754	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5222557 rs776553680	754	A>V		No	ClinGen ExAC gnomAD
rs761339512 CA5222558	755	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs199732967 CA5222559	755	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA5222560 rs750065319	756	T>M		No	ClinGen ExAC TOPMed gnomAD
CA5222562 rs765874618	757	L>M		No	ClinGen ExAC gnomAD
rs200073956 CA5222563	757	L>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5222564 rs368301140	758	D>E		No	ClinGen ESP ExAC gnomAD
rs1229334447 CA374770466	759	G>V		No	ClinGen gnomAD
CA5222565 rs777998468	760	E>Q		No	ClinGen ExAC gnomAD
CA374770481 rs1201451615	762	G>R		No	ClinGen TOPMed
rs746124818 CA5222569	764	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5222570 rs746124818	764	P>R		No	ClinGen ExAC TOPMed gnomAD
CA374770494 COSM1701650 rs1564224558 COSM1701651	764	P>S	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA374770499 rs201992293	765	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374770496 rs1392467484	765	A>T		No	ClinGen gnomAD
rs201992293 CA5222572	765	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA199417168 rs908623993	768	D>H		No	ClinGen TOPMed gnomAD
CA199417164 rs908623993	768	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA5222575 COSM41131 rs761619061	769	V>I	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1381061715 CA374770534	771	P>L		No	ClinGen gnomAD
CA5222576 rs372120275	771	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1280594478 CA374770536	772	T>A		No	ClinGen TOPMed gnomAD
rs1409524135 CA374770538	772	T>I		No	ClinGen gnomAD
rs1280594478 CA374770535	772	T>P		No	ClinGen TOPMed gnomAD
rs1409524135 CA374770539	772	T>R		No	ClinGen gnomAD
CA5222577 rs189270684	773	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs553741197 CA199417181	773	D>G		No	ClinGen 1000Genomes
rs762605062 CA5222578	776	A>G		No	ClinGen ExAC
rs1372571984 CA374770562	776	A>P		No	ClinGen TOPMed gnomAD
CA5222581 rs756550110	777	A>T		No	ClinGen ExAC TOPMed gnomAD
CA199417199 rs373611896	777	A>V		No	ClinGen ESP TOPMed gnomAD
CA5222582 rs764715384	779	A>P		No	ClinGen ExAC TOPMed gnomAD
CA199417205 rs764715384	779	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5222583 rs754328116	782	V>M		No	ClinGen ExAC TOPMed gnomAD
CA374770600 rs1342380906	783	A>D		No	ClinGen gnomAD
CA5222585 rs779150509	783	A>P		No	ClinGen ExAC TOPMed gnomAD
CA374770598 rs779150509	783	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5222587 rs555019046	784	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5222588 rs780248582 COSM1674778 COSM1674779	786	P>L	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA374770620 rs780248582	786	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA374770617 rs1453152132	786	P>S		No	ClinGen gnomAD
rs768640914 CA5222590	787	A>S		No	ClinGen ExAC gnomAD
rs1184815429 CA374770625	787	A>V		No	ClinGen TOPMed gnomAD
rs576576520 CA5222592	788	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767098011 CA5222591	788	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1024197853 CA199417268	789	A>V		No	ClinGen TOPMed
CA374770640 rs1279427924	790	T>I		No	ClinGen TOPMed
CA199417277 rs995828764	791	P>L		No	ClinGen gnomAD
CA374770644 rs995828764	791	P>Q		No	ClinGen gnomAD
CA374770658 rs1364098745	793	N>K		No	ClinGen gnomAD
CA199417280 rs1028557731	796	G>V		No	ClinGen Ensembl
CA374770681 rs1337864990	798	A>T		No	ClinGen TOPMed
CA374770686 rs1324627893	798	A>V		No	ClinGen gnomAD
rs1326284137 CA374770688	799	T>A		No	ClinGen gnomAD
rs370862211 CA5222593	799	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5222596 rs137949148	801	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs927107583 CA199417296	801	R>W		No	ClinGen TOPMed gnomAD
rs565466914 CA5222597	802	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374770702 rs1210146611	802	R>W		No	ClinGen gnomAD
rs1159024192 CA374770705	803	A>S		No	ClinGen TOPMed
rs1165715121 CA374770709	803	A>V		No	ClinGen gnomAD
rs759041516 CA5222598	805	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA374770725 rs1588002955	806	T>A		No	ClinGen Ensembl
rs766972496 CA5222599	807	P>S		No	ClinGen ExAC gnomAD
rs754305078 CA5222600	808	T>A		No	ClinGen ExAC gnomAD
TCGA novel	809	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5222601 rs762240947	809	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1183214949 CA374770751	811	G>S		No	ClinGen TOPMed gnomAD
rs765684677 CA5222602	812	T>A		No	ClinGen ExAC gnomAD
CA5222604 rs750886157	812	T>I		No	ClinGen ExAC TOPMed gnomAD
rs750886157 CA374770759	812	T>N		No	ClinGen ExAC TOPMed gnomAD
CA374770757 rs765684677	812	T>P		No	ClinGen ExAC gnomAD
rs750886157 CA5222603	812	T>S		No	ClinGen ExAC TOPMed gnomAD
CA5222605 rs149452173	813	S>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149452173 CA374770760	813	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374770765 rs1399438813	814	E>K		No	ClinGen gnomAD
CA5222607 rs755018805	815	G>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
RCV000961961 CA5222609 rs34458419	816	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5222610 rs141593526	816	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs770737970 CA5222613	819	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5222612 rs749134055	819	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1268762564 CA374770797	820	P>T		No	ClinGen gnomAD
rs1588003206 CA374770819	823	L>S		No	ClinGen Ensembl
CA5222615 rs759115601	824	A>T		No	ClinGen ExAC gnomAD
rs891607488 CA199417390 COSM296567	825	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1188565861 CA374770844	827	S>Y		No	ClinGen gnomAD
rs1287893316 CA374770855	829	Q>*		No	ClinGen gnomAD
CA5222618 rs762378920	829	Q>R		No	ClinGen ExAC gnomAD
CA5222619 rs765892347	831	P>A		No	ClinGen ExAC gnomAD
rs1413267854 CA374770891	834	Q>R		No	ClinGen gnomAD
COSM1202946 COSM1202945 rs141810290 CA5222620	836	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs900286208 CA199417413	837	A>S		No	ClinGen TOPMed
CA199417415 rs530647840	838	G>A		No	ClinGen 1000Genomes
rs766855032 CA5222622	840	P>L		No	ClinGen ExAC TOPMed gnomAD
CA374770926 rs1327854696	840	P>S		No	ClinGen gnomAD
rs1322675852 CA374770940	843	P>S		No	ClinGen TOPMed gnomAD
rs1254306609 CA374770948	844	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1347266207 CA374770949	844	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs756026867 CA5222627	845	G>S		No	ClinGen ExAC TOPMed gnomAD
rs777641902 CA5222628	845	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1184703054 CA374770971	848	D>G		No	ClinGen gnomAD
TCGA novel	848	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5222630 rs376857569	850	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA374770985 rs376857569	850	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1006190827 CA199417445	854	H>Q		No	ClinGen Ensembl
rs570697072 CA5222632	857	L>M		No	ClinGen 1000Genomes ExAC gnomAD
CA5222633 rs528379635	857	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA5222637 rs773788305	864	E>K		No	ClinGen ExAC gnomAD
rs536210389 CA5222639	867	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs759770964 CA5222641	868	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1207621234 CA374771109	869	A>T		No	ClinGen gnomAD
CA5222642 rs767683993	869	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1189972665 CA374771126	871	K>N		No	ClinGen TOPMed gnomAD
CA374771131 rs1250001238	872	L>R		No	ClinGen gnomAD
rs570112043 CA5222645	873	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA5222644 rs554798341	873	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs367690998 CA5222646	874	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs139267584 CA5222647	874	S>N		No	ClinGen ESP ExAC gnomAD
rs367690998 CA199417493	874	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5222648 rs537291777	877	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs745692332 CA5222649	878	A>V		No	ClinGen ExAC gnomAD
CA5222651 rs145366203	879	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs145366203 CA199417509	879	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs147657880 CA5222652	879	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1230881571 CA374771180	881	E>Q		No	ClinGen gnomAD
CA374771184 rs1298689324	881	E>V		No	ClinGen gnomAD
rs980218405 CA199417527	882	L>V		No	ClinGen gnomAD
TCGA novel	884	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5222656 rs553670712	884	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749808489 CA5222655	884	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs774754157 CA199417537	885	R>G		No	ClinGen ExAC TOPMed gnomAD
rs574522030 CA5222658	885	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5222657 rs774754157	885	R>W	Variant assessed as Somatic; 6.088e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1245631797 CA374771207	886	P>R		No	ClinGen gnomAD
CA5222659 rs199598085	887	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374771229 rs1224354176	890	A>V		No	ClinGen Ensembl
CA5222665 rs765138434	891	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5222664 rs191595599	891	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750403945 CA5222666	892	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5222667 rs758059245	893	Q>K		No	ClinGen ExAC
CA374771250 rs1564226214	894	M>I		No	ClinGen Ensembl
rs376519748 CA5222669	894	M>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs530621661 CA5222668	894	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA374771255 rs1481049304	895	S>A		No	ClinGen TOPMed
rs1045881371 CA199417602	898	E>V		No	ClinGen TOPMed
CA5222670 rs754743646	899	K>R		No	ClinGen ExAC gnomAD
CA199417613 rs747708872 CA5222673	901	G>R		No	ClinGen ExAC TOPMed gnomAD
rs769366403 CA5222674	904	T>A		No	ClinGen ExAC TOPMed gnomAD
CA5222675 rs183735294	904	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769366403 CA374771308	904	T>P		No	ClinGen ExAC TOPMed gnomAD
rs772267307 CA5222677	905	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1048808355 CA199417631	906	P>S		No	ClinGen TOPMed gnomAD
rs760886694 CA5222679	907	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5222678 rs56200518	907	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374771327 rs1418345958	908	Q>*		No	ClinGen gnomAD
CA374771340 rs1156704184	909	N>K		No	ClinGen gnomAD
CA5222680 rs768909897	910	S>I		No	ClinGen ExAC gnomAD
rs1457737544 CA374771348	911	A>T		No	ClinGen TOPMed gnomAD
CA374771365 rs1321250996	913	P>L		No	ClinGen gnomAD
CA374771362 rs1180707217	913	P>S		No	ClinGen gnomAD
TCGA novel	915	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761839130 CA199417657	918	D>H		No	ClinGen ExAC TOPMed gnomAD
rs761839130 CA5222682	918	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA374771405 rs1286851232	919	Q>R		No	ClinGen gnomAD
CA374771411 rs1331786793	920	P>S		No	ClinGen gnomAD
CA5222685 rs750267399	921	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5222686 rs763000959	922	P>R		No	ClinGen ExAC TOPMed gnomAD
CA374771421 rs1242069519	922	P>S		No	ClinGen TOPMed
rs1019327432 CA199417669	923	P>A		No	ClinGen TOPMed
rs1253740585 CA374771433	924	P>L		No	ClinGen TOPMed gnomAD
CA199417680 rs963660290	924	P>T		No	ClinGen TOPMed gnomAD
rs751440231 CA5222689	925	P>L		No	ClinGen ExAC TOPMed gnomAD
rs751440231 CA374771437	925	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1424540101 CA374771444	926	P>L		No	ClinGen TOPMed gnomAD
CA374771455 rs1381390696	928	P>L		No	ClinGen TOPMed
CA374771460 rs1409476491	929	P>H		No	ClinGen gnomAD
CA374771464 rs1352767458	930	A>P		No	ClinGen gnomAD
CA374771465 rs1352767458	930	A>S		No	ClinGen gnomAD
rs975064592 CA199417692	930	A>V		No	ClinGen TOPMed gnomAD
rs1369709479 CA374771472	931	P>R		No	ClinGen gnomAD
CA5222691 rs754653629	932	R>C		No	ClinGen ExAC gnomAD
CA374771474 rs754653629	932	R>G		No	ClinGen ExAC gnomAD
rs1220390281 CA374771475	932	R>H		No	ClinGen TOPMed gnomAD
TCGA novel	932	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1220390281 CA374771476	932	R>P		No	ClinGen TOPMed gnomAD
CA5222690 rs754653629	932	R>S		No	ClinGen ExAC gnomAD
rs201889776 CA374771478	933	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5222693 rs201889776	933	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777357265 CA5222694	934	R>Q	Variant assessed as Somatic; 7.191e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA199417742 rs908347719	934	R>W		No	ClinGen gnomAD
CA5222696 rs548559366	935	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs548559366 CA5222695	935	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA199417776 rs990844290	937	P>L		No	ClinGen TOPMed gnomAD
rs990844290 CA374771500	937	P>R		No	ClinGen TOPMed gnomAD
CA374771498 rs1244848139	937	P>S		No	ClinGen gnomAD
CA5222698 rs539043936	938	N>D		No	ClinGen ExAC TOPMed gnomAD
rs776765033 CA5222700	940	L>P		No	ClinGen ExAC TOPMed gnomAD
rs762105081 CA5222701	941	S>N		No	ClinGen ExAC gnomAD
rs1323793448 CA374771545	945	Y>H		No	ClinGen TOPMed
CA374771557 rs1381653832	947	R>G		No	ClinGen TOPMed
TCGA novel	948	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5222703 rs368754133	949	S>L		No	ClinGen ESP ExAC gnomAD
rs373299937 CA5222704	950	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA374771579 rs1363884910	950	S>I		No	ClinGen gnomAD
CA199417807 rs766387732	950	S>R		No	ClinGen ExAC TOPMed gnomAD
CA5222706 rs751563172	951	G>R		No	ClinGen ExAC gnomAD
rs1208946491 CA374771602	954	A>V		No	ClinGen gnomAD
rs1186415489 CA374771608	955	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA374771619 rs1253670716	957	S>L		No	ClinGen gnomAD
rs752339946 CA5222709	957	S>P		No	ClinGen ExAC gnomAD
rs980565001 CA199417820	960	W>R		No	ClinGen TOPMed gnomAD
rs558731616 CA5222710	961	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753432152 CA374771650	962	G>D		No	ClinGen ExAC gnomAD
CA5222712 rs753432152	962	G>V		No	ClinGen ExAC gnomAD
CA199417837 rs748204756	963	P>S		No	ClinGen gnomAD
CA5222713 rs571074859	964	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5222714 rs780493088	965	T>S		No	ClinGen ExAC TOPMed gnomAD
CA5222716 rs371407818	966	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
RCV000883884 rs114838746 CA5222717	966	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1432195476 CA374771676	967	L>P		No	ClinGen gnomAD
CA374771680 rs1321980485	968	R>K		No	ClinGen gnomAD
CA374771711 rs965971785	972	S>F		No	ClinGen gnomAD
rs965971785 CA199417897	972	S>Y		No	ClinGen gnomAD
CA374771716 rs1226993067	973	S>F		No	ClinGen TOPMed
rs770094906 CA5222719	973	S>P		No	ClinGen ExAC TOPMed gnomAD
CA374771723 rs1588005155	975	K>Q		No	ClinGen Ensembl
rs995429854 CA199417910	976	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA374771741 rs1206855468	977	D>E		No	ClinGen gnomAD
CA5222721 rs148978268	977	D>N		No	ClinGen ESP ExAC gnomAD
rs771164348 CA374771765	981	L>M		No	ClinGen ExAC gnomAD
CA374771768 rs1187152046	981	L>P		No	ClinGen gnomAD
rs1367077259 CA374771783	983	P>L		No	ClinGen TOPMed gnomAD
rs774366709 CA5222724	984	R>G		No	ClinGen ExAC TOPMed gnomAD
rs767407304 CA5222725	984	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs774366709 CA5222723	984	R>W		No	ClinGen ExAC TOPMed gnomAD
CA374771787 rs1297212215	985	A>T		No	ClinGen TOPMed
CA374771800 rs1437140888	987	H>N		No	ClinGen gnomAD
CA374771813 rs1456145684	988	K>N		No	ClinGen gnomAD
CA374771852 rs1348442012	993	P>S		No	ClinGen TOPMed gnomAD
rs982793283 CA199418602	994	V>M		No	ClinGen TOPMed
rs1452512577 CA374771878	997	N>D		No	ClinGen gnomAD
rs143836788 CA5222741	997	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5222742 rs561552710	998	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374771900 rs1296135139	1000	D>E		No	ClinGen Ensembl
rs760472375 CA5222744	1001	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA374771903 rs760472375	1001	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1211930144 CA374771904	1001	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA374771915 rs1184953371	1003	A>P		No	ClinGen gnomAD
rs1433146792 CA374771919	1004	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	1006	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA199418653 rs914857302	1008	T>I		No	ClinGen Ensembl
TCGA novel	1009	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374771956 rs1454421757	1009	M>T		No	ClinGen gnomAD
rs1378906856 CA374771953	1009	M>V		No	ClinGen gnomAD
CA199418675 rs1041909484	1011	A>T	Variant assessed as Somatic; 4.644e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA5222749 rs570101345	1011	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1468203109 CA374771983	1013	L>*		No	ClinGen Ensembl
CA374771999 rs1332949287	1015	E>G		No	ClinGen gnomAD
rs199878545 CA374772010	1016	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5222755 rs367742152	1018	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5222756 rs754080123	1019	L>M		No	ClinGen ExAC gnomAD
CA374772039 rs1208619776	1021	P>L		No	ClinGen gnomAD
CA374772036 rs1488426664	1021	P>S		No	ClinGen gnomAD
rs1268830866 CA374772046	1022	D>E		No	ClinGen gnomAD
rs141691348 CA5222760	1023	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA199418718 rs745997669	1023	P>H		No	ClinGen ExAC TOPMed gnomAD
CA374772049 rs745997669	1023	P>L		No	ClinGen ExAC TOPMed gnomAD
rs745997669 CA5222761	1023	P>R		No	ClinGen ExAC TOPMed gnomAD
rs141691348 CA374772048	1023	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs141691348 CA5222759	1023	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs145340237 CA5222763	1024	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs145340237 CA199418759	1024	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs145340237 CA5222762	1024	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA374772050 rs1588007716	1024	P>T		No	ClinGen Ensembl
CA5222766 rs138053639	1025	H>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138053639 CA5222765	1025	H>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751187768	1025	H>P	Variant assessed as Somatic; 9.607e-05 impact. [NCI-TCGA]	No	NCI-TCGA
CA374772054 rs1367731868	1025	H>R		No	ClinGen TOPMed gnomAD
rs751187768	1025	H>T	Variant assessed as Somatic; 4.804e-05 impact. [NCI-TCGA]	No	NCI-TCGA
rs138053639 CA5222767	1025	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374772064 rs1295291519	1026	R>S		No	ClinGen gnomAD
rs1396772536 CA374772067	1027	D>Y		No	ClinGen gnomAD
CA5222769 rs772872736	1028	R>G		No	ClinGen ExAC gnomAD
rs1320010288 CA374772078	1028	R>S		No	ClinGen gnomAD
CA5222770 rs762409892	1030	R>K		No	ClinGen ExAC TOPMed gnomAD
rs762409892 CA374772086	1030	R>T		No	ClinGen ExAC TOPMed gnomAD
CA374772093 rs1230950627	1031	S>N		No	ClinGen gnomAD
rs564612204 CA5222771	1031	S>R		No	ClinGen 1000Genomes ExAC gnomAD
CA5222773 rs539727039	1033	D>E		No	ClinGen ExAC TOPMed gnomAD
rs764516491 COSM1597926 CA5222774 COSM1104786	1034	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA199418790 rs761320372	1035	L>F		No	ClinGen Ensembl
rs993327568 CA199418798	1040	K>E		No	ClinGen gnomAD
CA374772180 rs1202776430	1041	D>E		No	ClinGen gnomAD
CA374772173 rs1482638134	1041	D>N		No	ClinGen gnomAD
CA199420307 rs868409347	1043	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA199420323 rs78083431	1045	L>M		No	ClinGen TOPMed gnomAD
rs998540168 CA199420335	1046	Q>L		No	ClinGen TOPMed gnomAD
rs866245214 CA199420342	1049	L>M		No	ClinGen Ensembl
CA374772229 rs1451020054 COSM3413315 COSM3413314	1050	R>*	Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1031231191 CA199420344	1050	R>Q		No	ClinGen TOPMed gnomAD
CA5222801 rs149504970	1053	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA374772304 rs1303609807	1061	T>A		No	ClinGen gnomAD
rs929621672 CA199420375	1061	T>N		No	ClinGen Ensembl
CA374772321 rs1159140592	1064	K>E		No	ClinGen TOPMed gnomAD
CA374772366 rs1438304708	1069	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5222805 rs755104686	1070	T>M		No	ClinGen ExAC TOPMed gnomAD
CA374772394 rs969590587	1074	V>L		No	ClinGen TOPMed gnomAD
CA199420412 rs969590587	1074	V>M		No	ClinGen TOPMed gnomAD
rs748082532 CA199420416	1075	L>M		No	ClinGen ExAC TOPMed gnomAD
rs748936874 CA374772407 CA5222810	1076	E>D		No	ClinGen ExAC gnomAD
CA5222809 rs777601063	1076	E>G		No	ClinGen ExAC gnomAD
CA374772432 rs1348657443	1080	R>Q		No	ClinGen gnomAD
rs1323546606 CA374772431	1080	R>W		No	ClinGen gnomAD
rs1588013374 CA374772445	1082	E>G		No	ClinGen Ensembl
CA374772452 rs1588013385	1083	E>G		No	ClinGen Ensembl
CA199420438 rs939586258	1084	G>V		No	ClinGen Ensembl
CA374772464 rs1588013420	1085	E>G		No	ClinGen Ensembl
CA5222812 rs374129525	1085	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA374772477 rs1432036787	1087	R>Q		No	ClinGen TOPMed
rs963317201 CA199420439	1087	R>W		No	ClinGen TOPMed gnomAD
rs1343675566 COSM1597925 CA374772486 COSM1104787	1089	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs948243699 CA199420441	1089	R>W		No	ClinGen gnomAD
rs745314375 CA374772492	1090	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5222813 rs745314375	1090	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1287574419 CA374772490	1090	R>W		No	ClinGen gnomAD
CA374772498 rs1253730007	1091	Q>R		No	ClinGen gnomAD
CA199420447 rs368342737	1093	E>K		No	ClinGen ESP
CA374772539 rs1475912579	1096	D>E		No	ClinGen gnomAD
CA374772533 rs1244178762	1096	D>H		No	ClinGen gnomAD
rs1163044761 CA374772554	1098	Q>H		No	ClinGen gnomAD
rs1442696536 CA374772560	1099	M>T		No	ClinGen gnomAD
rs1412204988 CA374772593	1104	S>R		No	ClinGen TOPMed gnomAD
CA374772599 rs1463492796	1104	S>R		No	ClinGen TOPMed gnomAD
CA5222829 rs777515084	1107	M>I		No	ClinGen ExAC TOPMed gnomAD
COSM607482 COSM1145202 CA374772643 rs200849707	1109	V>L	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
COSM1173443 CA5222832 COSM1173444 rs200849707	1109	V>M	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1348561500 CA374772648	1110	E>K		No	ClinGen gnomAD
CA5222833 rs745543365	1112	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1281367403 CA374772687	1115	K>T		No	ClinGen gnomAD
CA374772708 rs1564237169	1118	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1486892678 CA374772744	1122	A>V		No	ClinGen gnomAD
CA5222838 rs773874217	1123	A>T		No	ClinGen ExAC gnomAD
rs1236177489 CA374772747	1123	A>V		No	ClinGen TOPMed
rs1588024590 CA374772755	1124	V>G		No	ClinGen Ensembl
CA199428152 rs112159524	1125	D>G		No	ClinGen gnomAD
CA374772760 rs112159524	1125	D>V		No	ClinGen gnomAD
rs771331302 CA5222840	1127	K>T		No	ClinGen ExAC TOPMed gnomAD
rs774379475 CA5222841	1129	K>N		No	ClinGen ExAC TOPMed gnomAD
CA374772800 rs1588024647	1131	I>V		No	ClinGen Ensembl
rs1171426822 CA374772805	1132	D>N		No	ClinGen gnomAD
TCGA novel	1137	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776265232 CA5222867	1137	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5222868 rs764167621	1140	S>L		No	ClinGen ExAC gnomAD
rs1441983592 CA374772873	1140	S>T		No	ClinGen gnomAD
CA5222871 rs764941247	1144	A>T		No	ClinGen ExAC gnomAD
rs916754563 CA199429196	1145	N>S		No	ClinGen gnomAD
CA374772914 rs1211219756	1146	A>D		No	ClinGen gnomAD
COSM202954 CA5222872 rs750277403	1147	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	1151	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758285852 CA5222873	1151	A>V		No	ClinGen ExAC gnomAD
rs948104513 CA199429222	1155	L>M		No	ClinGen Ensembl
rs1466323205 CA374772988	1157	E>D		No	ClinGen TOPMed gnomAD
CA374772992 rs1293364514	1158	R>K		No	ClinGen TOPMed gnomAD
rs1170889493 CA374773007	1160	S>G		No	ClinGen gnomAD
CA5222875 rs779810493	1160	S>N		No	ClinGen ExAC gnomAD
rs1459832193 CA374773014	1161	M>V		No	ClinGen gnomAD
CA374773023 rs1388992748	1162	Q>E		No	ClinGen TOPMed gnomAD
rs117152313 CA5222878	1164	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs771507565 CA5222880	1164	R>H	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs117152313 CA5222879	1164	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5222881 rs779125425	1166	G>S		No	ClinGen ExAC gnomAD
CA5222882 rs746181899	1169	P>S		No	ClinGen ExAC gnomAD
rs1340368374 CA374773070 COSM3847555	1170	T>P	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
rs747248236 CA5222885	1171	N>S		No	ClinGen ExAC gnomAD
CA5222886 rs768711677	1172	P>A		No	ClinGen ExAC gnomAD
CA374773143 rs1564238471	1180	N>S		No	ClinGen Ensembl
CA5222888 rs761629896	1181	G>S		No	ClinGen ExAC TOPMed gnomAD
rs765169272 CA5222889	1182	E>K		No	ClinGen ExAC gnomAD
CA374773164 rs746353386	1183	F>L		No	ClinGen Ensembl
rs949676383 CA199429331	1186	S>G		No	ClinGen TOPMed
rs773052471 CA5222890	1187	S>G		No	ClinGen ExAC
TCGA novel CA5222891 rs762766346	1188	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed gnomAD
CA5222892 rs766289018	1190	C>Y		No	ClinGen ExAC gnomAD

1 associated diseases with Q5VWQ8

Without disease ID

5 regional properties for Q5VWQ8

Type	Name	Position	InterPro Accession
domain	C2 domain	193 - 313	IPR000008
domain	Pleckstrin homology domain	73 - 204	IPR001849
domain	Ras GTPase-activating domain	320 - 657	IPR001936
domain	Disabled homolog 2-interacting protein, C-terminal domain	646 - 1159	IPR021887
conserved_site	Ras GTPase-activating protein, conserved site	519 - 533	IPR023152

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cell membrane ; Peripheral membrane protein Membrane Cell projection, dendrite	Localized in soma and dendrites of Purkinje cells as well as in scattered cell bodies in the molecular layer of the cerebellum (By similarity) Colocalizes with TIRAP at the plasma membrane Colocalizes with ARF6 at the plasma membrane and endocytic vesicles Translocates from the plasma membrane to the cytoplasm in response to TNF-alpha Phosphatidylinositol 4-phosphate (PtdIns4P) binding is essential for plasma membrane localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

12 GO annotations of cellular component

Name	Definition
AIP1-IRE1 complex	A protein complex consisting of IRE1 (inositol-requiring enzyme-1) bound to AIP1 (ASK1-interacting protein 1/DAB2-interacting protein).
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.
cerebellar mossy fiber	An axon arising from cerebellar projecting cells in the cochlea, vestibular nuclei, spinal cord, reticular formation, cerebellar nuclei and basilar pontine nuclei. Mossy fibers enter through all three cerebellar peduncles and send collaterals to the deep cerebellar nuclei, then branch in the white matter and terminate in the granule cell layer. Through this branching, a given mossy fiber can innervate several folia. Mossy fibers synapse on granule cells. The synaptic contacts are made at enlargements along the length of the mossy fiber called mossy fiber rosettes. The enlargements of the rosettes give the axons a mossy-looking appearance in Golgi stained preparations.
climbing fiber	The axon of inferior olive neuron that projects to the cerebellar cortex, largely via the inferior cerebellar peduncle. They range in diameter from 1-3 um and are myelinated until they enter the granule cell layer. They give off collaterals to the deep cerebellar nuclei. They synapse extensively with the dendrites of Purkinje cells in the molecular layer, where each fiber branches repeatedly to climb along the Purkinje cell dendritic tree. Each Purkinje cell is innervated by only a single climbing fiber.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
dendrite	A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
endocytic vesicle	A membrane-bounded intracellular vesicle formed by invagination of the plasma membrane around an extracellular substance. Endocytic vesicles fuse with early endosomes to deliver the cargo for further sorting.
neuronal cell body	The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
neuronal cell body membrane	The plasma membrane of a neuron cell body - excludes the plasma membrane of cell projections such as axons and dendrites.
parallel fiber	A parallel fiber results from the bifurcation of a cerebellar granule cell axon in the molecular layer into two diametrically opposed branches, that are oriented parallel to the long axis of the folium.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

20 GO annotations of molecular function

Name	Definition
14-3-3 protein binding	Binding to a 14-3-3 protein. A 14-3-3 protein is any of a large family of approximately 30kDa acidic proteins which exist primarily as homo- and heterodimers within all eukaryotic cells, and have been implicated in the modulation of distinct biological processes by binding to specific phosphorylated sites on diverse target proteins, thereby forcing conformational changes or influencing interactions between their targets and other molecules. Each 14-3-3 protein sequence can be roughly divided into three sections: a divergent amino terminus, the conserved core region and a divergent carboxy-terminus. The conserved middle core region of the 14-3-3s encodes an amphipathic groove that forms the main functional domain, a cradle for interacting with client proteins.
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
death receptor binding	Binding to a member of the death receptor (DR) family. The DR family falls within the tumor necrosis factor receptor superfamily and is characterized by a cytoplasmic region of ~80 residues termed the death domain (DD).
GTPase activator activity	Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.
identical protein binding	Binding to an identical protein or proteins.
kinase binding	Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group.
mitogen-activated protein kinase kinase binding	Binding to a mitogen-activated protein kinase kinase, a protein that can phosphorylate a MAP kinase.
mitogen-activated protein kinase kinase kinase binding	Binding to a mitogen-activated protein kinase kinase kinase, a protein that can phosphorylate a MAP kinase kinase.
phosphatidylinositol 3-kinase binding	Binding to a phosphatidylinositol 3-kinase, any enzyme that catalyzes the addition of a phosphate group to an inositol lipid at the 3' position of the inositol ring.
phosphatidylinositol 3-kinase regulatory subunit binding	Binding to a regulatory subunit of phosphatidylinositol 3-kinase. The regulatory subunit associates with the catalytic subunit to regulate both its activity and subcellular location.
phosphatidylinositol-3-phosphate binding	Binding to phosphatidylinositol-3-phosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 3' position.
phosphatidylinositol-4-phosphate binding	Binding to phosphatidylinositol-4-phosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' position.
protein homodimerization activity	Binding to an identical protein to form a homodimer.
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.
protein phosphatase 2A binding	Binding to protein phosphatase 2A.
protein serine/threonine kinase activator activity	Binds to and increases the activity of a protein serine/threonine kinase.
protein-containing complex binding	Binding to a macromolecular complex.
SH3 domain binding	Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins.
signaling adaptor activity	The binding activity of a molecule that brings together two or more molecules in a signaling pathway, permitting those molecules to function in a coordinated way. Adaptor molecules themselves do not have catalytic activity.
vascular endothelial growth factor receptor 2 binding	Binding to a vascular endothelial growth factor receptor 2.

67 GO annotations of biological process

Name	Definition
angiogenesis	Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.
cell cycle	The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division.
cell motility involved in cerebral cortex radial glia guided migration	The movement of a cell along the process of a radial glial cell involved in cerebral cortex glial-mediated radial migration.
cellular response to epidermal 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 an epidermal growth factor stimulus.
cellular response to interleukin-1	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 an interleukin-1 stimulus.
cellular response to lipopolysaccharide	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 lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria.
cellular response to tumor necrosis 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 tumor necrosis factor stimulus.
cellular response to unfolded protein	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 an unfolded protein 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.
endothelial cell apoptotic process	Any apoptotic process in an endothelial cell. An endothelial cell comprises the outermost layer or lining of anatomical structures and can be squamous or cuboidal.
extrinsic apoptotic signaling pathway via death domain receptors	The series of molecular signals in which a signal is conveyed from the cell surface to trigger the apoptotic death of a cell. The pathway starts with a ligand binding to a death domain receptor on the cell surface, and ends when the execution phase of apoptosis is triggered.
I-kappaB phosphorylation	The process of introducing a phosphate group into an inhibitor of kappa B (I-kappaB) protein. Phosphorylation of I-kappaB targets I-kappaB for ubiquitination and proteasomal degradation, thus releasing bound NF-kappaB dimers, which can translocate to the nucleus to bind DNA and regulate transcription.
inflammatory response	The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced in response to a stimulus indicating endoplasmic reticulum (ER) stress, and ends when the execution phase of apoptosis is triggered. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen.
layer formation in cerebral cortex	The detachment of cells from radial glial fibers at the appropriate time when they cease to migrate and form distinct layer in the cerebral cortex.
negative regulation of angiogenesis	Any process that stops, prevents, or reduces the frequency, rate or extent of angiogenesis.
negative regulation of canonical Wnt signaling pathway	Any process that decreases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.
negative regulation of cell population proliferation	Any process that stops, prevents or reduces the rate or extent of cell proliferation.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of endothelial cell migration	Any process that decreases the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium.
negative regulation of epidermal growth factor receptor signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of epidermal growth factor receptor signaling pathway activity.
negative regulation of epithelial cell migration	Any process that stops, prevents, or reduces the frequency, rate or extent of epithelial cell migration.
negative regulation of epithelial cell proliferation	Any process that stops, prevents or reduces the rate or extent of epithelial cell proliferation.
negative regulation of epithelial to mesenchymal transition	Any process that decreases the rate, frequency, or extent of epithelial to mesenchymal transition. Epithelial to mesenchymal transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell.
negative regulation of ERK1 and ERK2 cascade	Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
negative regulation of fibroblast proliferation	Any process that stops, prevents, or reduces the frequency, rate or extent of multiplication or reproduction of fibroblast cells.
negative regulation of G0 to G1 transition	A cell cycle process that stops, prevents, or reduces the rate or extent of the transition from the G0 quiescent state to the G1 phase.
negative regulation of GTPase activity	Any process that stops or reduces the rate of GTP hydrolysis by a GTPase.
negative regulation of I-kappaB kinase/NF-kappaB signaling	Any process that stops, prevents, or reduces the frequency, rate or extent of -kappaB kinase/NF-kappaB signaling.
negative regulation of MAP kinase activity	Any process that stops, prevents, or reduces the frequency, rate or extent of MAP kinase activity.
negative regulation of NF-kappaB transcription factor activity	Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of the transcription factor NF-kappaB.
negative regulation of phosphatidylinositol 3-kinase activity	Any process that stops, prevents, or reduces the frequency, rate or extent of phosphatidylinositol 3-kinase activity.
negative regulation of phosphatidylinositol 3-kinase signaling	Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade.
negative regulation of protein catabolic process	Any process that stops, prevents or reduces the frequency, rate or extent of protein catabolic process.
negative regulation of protein phosphorylation	Any process that stops, prevents or reduces the rate of addition of phosphate groups to amino acids within a protein.
negative regulation of protein serine/threonine kinase activity	Any process that decreases the rate, frequency, or extent of protein serine/threonine kinase activity.
negative regulation of Ras protein signal transduction	Any process that stops, prevents, or reduces the frequency, rate or extent of Ras protein signal transduction.
negative regulation of toll-like receptor 4 signaling pathway	Any process that stops, prevents, or reduces the frequency, rate, or extent of toll-like receptor 4 signaling pathway.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
negative regulation of vascular endothelial growth factor receptor signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of vascular endothelial growth factor receptor signaling pathway activity.
negative regulation of vascular endothelial growth factor signaling pathway	Any process that stops, prevents or reduces the frequency, rate or extent of vascular endothelial growth factor signaling pathway.
neuron projection morphogenesis	The process in which the anatomical structures of a neuron projection are generated and organized. A neuron projection is any process extending from a neural cell, such as axons or dendrites.
positive regulation of apoptotic process	Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process.
positive regulation of apoptotic signaling pathway	Any process that activates or increases the frequency, rate or extent of apoptotic signaling pathway.
positive regulation of dendrite development	Any process that activates or increases the frequency, rate or extent of dendrite development.
positive regulation of IRE1-mediated unfolded protein response	Any process that activates or increases the frequency, rate or extent of the IRE1-mediated unfolded protein response.
positive regulation of JNK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the JNK cascade.
positive regulation of JUN kinase activity	Any process that activates or increases the frequency, rate or extent of JUN kinase activity.
positive regulation of MAPK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of neuron migration	Any process that activates or increases the frequency, rate or extent of neuron migration.
positive regulation of neuron projection development	Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
positive regulation of proteasomal protein catabolic process	Any process that activates or increases the frequency, rate or extent of proteasomal protein catabolic process.
positive regulation of protein catabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds.
positive regulation of protein serine/threonine kinase activity	Any process that increases the rate, frequency, or extent of protein serine/threonine kinase activity.
positive regulation of protein-containing complex assembly	Any process that activates or increases the frequency, rate or extent of protein complex assembly.
positive regulation of synapse maturation	Any process that increases the extent of synapse maturation, the process that organizes a synapse so that it attains its fully functional state.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
protein catabolic process	The chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds.
reelin-mediated signaling pathway	The series of molecular signals initiated by the binding of reelin (a secreted glycoprotein) to a receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
regulation of cell cycle	Any process that modulates the rate or extent of progression through the cell cycle.
regulation of GTPase activity	Any process that modulates the rate of GTP hydrolysis by a GTPase.
regulation of I-kappaB kinase/NF-kappaB signaling	Any process that modulates I-kappaB kinase/NF-kappaB signaling.
regulation of p38MAPK cascade	Any process that modulates the frequency, rate or extent of p38MAPK cascade.
regulation of protein-containing complex assembly	Any process that modulates the frequency, rate or extent of protein complex assembly.
tube formation	Creation of the central hole of a tube in an anatomical structure through which gases and/or liquids flow.
vascular endothelial growth factor receptor-2 signaling pathway	The series of molecular signals initiated by a ligand binding to a vascular endothelial growth factor receptor-2 (VEGFR-2) on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P21359	NF1	Neurofibromin	Homo sapiens (Human)	PR
O95294	RASAL1	RasGAP-activating-like protein 1	Homo sapiens (Human)	PR
Q86YV0	RASAL3	RAS protein activator like-3	Homo sapiens (Human)	PR
Q3UHC7	Dab2ip	Disabled homolog 2-interacting protein	Mus musculus (Mouse)	PR
Q6P730	Dab2ip	Disabled homolog 2-interacting protein	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MSAGGSARKS	TGRSSYYYRL	LRRPRLQRQR	SRSRSRTRPA	RESPQERPGS	RRSLPGSLSE
70	80	90	100	110	120
KSPSMEPSAA	TPFRVTGFLS	RRLKGSIKRT	KSQPKLDRNH	SFRHILPGFR	SAAAAAADNE
130	140	150	160	170	180
RSHLMPRLKE	SRSHESLLSP	SSAVEALDLS	MEEEVVIKPV	HSSILGQDYC	FEVTTSSGSK
190	200	210	220	230	240
CFSCRSAAER	DKWMENLRRA	VHPNKDNSRR	VEHILKLWVI	EAKDLPAKKK	YLCELCLDDV
250	260	270	280	290	300
LYARTTGKLK	TDNVFWGEHF	EFHNLPPLRT	VTVHLYRETD	KKKKKERNSY	LGLVSLPAAS
310	320	330	340	350	360
VAGRQFVEKW	YPVVTPNPKG	GKGPGPMIRI	KARYQTITIL	PMEMYKEFAE	HITNHYLGLC
370	380	390	400	410	420
AALEPILSAK	TKEEMASALV	HILQSTGKVK	DFLTDLMMSE	VDRCGDNEHL	IFRENTLATK
430	440	450	460	470	480
AIEEYLKLVG	QKYLQDALGE	FIKALYESDE	NCEVDPSKCS	AADLPEHQGN	LKMCCELAFC
490	500	510	520	530	540
KIINSYCVFP	RELKEVFASW	RQECSSRGRP	DISERLISAS	LFLRFLCPAI	MSPSLFNLLQ
550	560	570	580	590	600
EYPDDRTART	LTLIAKVTQN	LANFAKFGSK	EEYMSFMNQF	LEHEWTNMQR	FLLEISNPET
610	620	630	640	650	660
LSNTAGFEGY	IDLGRELSSL	HSLLWEAVSQ	LEQSIVSKLG	PLPRILRDVH	TALSTPGSGQ
670	680	690	700	710	720
LPGTNDLAST	PGSGSSSISA	GLQKMVIEND	LSGLIDFTRL	PSPTPENKDL	FFVTRSSGVQ
730	740	750	760	770	780
PSPARSSSYS	EANEPDLQMA	NGGKSLSMVD	LQDARTLDGE	AGSPAGPDVL	PTDGQAAAAQ
790	800	810	820	830	840
LVAGWPARAT	PVNLAGLATV	RRAGQTPTTP	GTSEGAPGRP	QLLAPLSFQN	PVYQMAAGLP
850	860	870	880	890	900
LSPRGLGDSG	SEGHSSLSSH	SNSEELAAAA	KLGSFSTAAE	ELARRPGELA	RRQMSLTEKG
910	920	930	940	950	960
GQPTVPRQNS	AGPQRRIDQP	PPPPPPPPPA	PRGRTPPNLL	STLQYPRPSS	GTLASASPDW
970	980	990	1000	1010	1020
VGPSTRLRQQ	SSSSKGDSPE	LKPRAVHKQG	PSPVSPNALD	RTAAWLLTMN	AQLLEDEGLG
1030	1040	1050	1060	1070	1080
PDPPHRDRLR	SKDELSQAEK	DLAVLQDKLR	ISTKKLEEYE	TLFKCQEETT	QKLVLEYQAR
1090	1100	1110	1120	1130	1140
LEEGEERLRR	QQEDKDIQMK	GIISRLMSVE	EELKKDHAEM	QAAVDSKQKI	IDAQEKRIAS
1150	1160	1170	1180
LDAANARLMS	ALTQLKERYS	MQARNGISPT	NPTKLQITEN	GEFRNSSNC