AiPD: Autoinhibited Protein Database

Q9UKW4

Gene name	VAV3
Protein name	Guanine nucleotide exchange factor VAV3
Names	VAV-3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10451
EC number
Protein Class

Descriptions

The Vav family is a group of tyrosine phosphorylation-dependent guanine nucleotide exchange factors (GEFs) that activate members of the Rac and Rho families of guanosine triphosphatases (GTPases) downstream of protein tyrosine kinases. When the tyrosine residues within the acidic (Ac) region are non-phosphorylated, the CH domain and Ac region occlude the GTPase-binding site within DH domain. The interaction is stabilized by the interaction between the hydroxyl group of Tyr174 within Ac region and GTPase binding site as well as the interaction between CH domain and DH-PH domains. The Y174F mutant displays constitutive and phosphorylation-independent catalytic activity. In addition to the N-terminal autoinhibitory regions, the truncation of C-terminal SH3 domain also relives the autoinhibition. C-terminal SH3 domain interacts with DH-PH domains and the intramolecular interaction occludes the GTPase-binding site of DH domain.

Autoinhibitory domains (AIDs)

788-847 (C-terminal SH3 domain) SS

Target domain	192-371 (DH domain)
Relief mechanism	Partner binding, PTM
Assay

AID

788-847 (C-terminal SH3 domain)

Target domain

192-371 (DH domain)

Relief mechanism

Partner binding (Putative mechanism, binding of PRR-containing proteins to C-terminal SH3 domain), PTM (Lck-mediated phosphorylation at Tyr174)

Assay

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

Aghazadeh B et al. (2000) "Structural basis for relief of autoinhibition of the Dbl homology domain of proto-oncogene Vav by tyrosine phosphorylation", Cell, 102, 625-33

Barreira M et al. (2014) "The C-terminal SH3 domain contributes to the intramolecular inhibition of Vav family proteins", Science signaling, 7, ra35

Yu B et al. (2010) "Structural and energetic mechanisms of cooperative autoinhibition and activation of Vav1", Cell, 140, 246-56

Rapley J et al. (2008) "Crucial structural role for the PH and C1 domains of the Vav1 exchange factor", EMBO reports, 9, 655-61

Autoinhibited structure

Activated structure

2 structures for Q9UKW4

Entry ID	Method	Resolution	Chain	Position	Source
2D86	NMR	-	A	1-130	PDB
AF-Q9UKW4-F1	Predicted				AlphaFoldDB

648 variants for Q9UKW4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA978964 rs371748511	2	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs372314733 COSM1332291 CA978963	3	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA978962 rs372314733	3	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA341233444 rs1557951246	4	W>*		No	ClinGen Ensembl
rs146244286 CA978958	7	C>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA978957 rs141808723	8	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1314755081 CA341233398	10	W>*		No	ClinGen gnomAD
TCGA novel	13	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1474613129 CA341233378	13	H>R		No	ClinGen TOPMed
rs1451131003 CA341233364	15	K>*		No	ClinGen gnomAD
CA29215589 rs149133045	15	K>R		No	ClinGen ESP TOPMed gnomAD
CA341233355 rs1571203942	16	V>G		No	ClinGen Ensembl
CA341233358 rs756797270	16	V>L		No	ClinGen ExAC gnomAD
rs756797270 CA978955	16	V>M		No	ClinGen ExAC gnomAD
rs1480412933 CA341233354	17	L>M		No	ClinGen TOPMed
CA341233338 rs1174279331	19	T>I		No	ClinGen TOPMed
CA341233340 rs1174279331	19	T>N		No	ClinGen TOPMed
rs1557951159	20	N>KGRNEVMG*		No	Ensembl
rs753012567 CA978951	23	V>M		No	ClinGen ExAC TOPMed gnomAD
rs964672810 CA29215588	24	T>I		No	ClinGen TOPMed gnomAD
TCGA novel	25	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776813052 CA978948	25	W>C		No	ClinGen ExAC gnomAD
CA978949 RCV000881229 rs138170759	25	W>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA341233293 rs1485299075	26	D>E		No	ClinGen gnomAD
TCGA novel	26	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA978947 rs367976864	26	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs760718551 CA341233288	27	S>L		No	ClinGen ExAC gnomAD
CA978946 rs760718551	27	S>W		No	ClinGen ExAC gnomAD
CA341233279 rs1557951097	29	Q>*		No	ClinGen Ensembl
CA341233269 rs1571203840	30	V>G		No	ClinGen Ensembl
CA341233263 rs1353922241	31	F>S		No	ClinGen gnomAD
rs749053049 CA978943	33	L>V		No	ClinGen ExAC gnomAD
CA978942 rs558845667	34	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs760369450 CA978940	36	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1300083495 CA341233229	36	T>S		No	ClinGen gnomAD
CA341233228 rs781153582	37	L>F		No	ClinGen ExAC TOPMed gnomAD
CA978939 COSM1497411 rs781153582	37	L>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA341233221 rs1557951034	38	R>C		No	ClinGen Ensembl
CA341233212 rs1345999169	39	D>E		No	ClinGen TOPMed
CA978937 rs756775427	39	D>G		No	ClinGen ExAC gnomAD
rs1042893452 CA341233190	43	L>H		No	ClinGen TOPMed gnomAD
rs1042893452 CA29215587	43	L>P		No	ClinGen TOPMed gnomAD
CA978934 rs758004069	44	C>R		No	ClinGen ExAC gnomAD
CA29215585 rs1009383039	47	L>I		No	ClinGen TOPMed
CA978933 rs753063166	49	N>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA29215584 rs893645670	49	N>S		No	ClinGen TOPMed gnomAD
CA341233153 rs893645670	49	N>T		No	ClinGen TOPMed gnomAD
CA978931 rs201435660	50	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA341233148 rs201435660	50	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1489704053 CA341233142	51	R>P		No	ClinGen TOPMed gnomAD
CA341233143 rs1489704053	51	R>Q		No	ClinGen TOPMed gnomAD
CA29215583 rs145990462	51	R>W		No	ClinGen 1000Genomes
CA978930 rs536779442	52	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760740826 CA978928	53	H>R		No	ClinGen ExAC gnomAD
rs919664631 CA29215581	54	S>F		No	ClinGen TOPMed
CA978926 rs567648027	55	I>M		No	ClinGen 1000Genomes ExAC gnomAD
rs771926028	59	E>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA978924 rs767730321	60	I>M		No	ClinGen ExAC TOPMed
CA341233078 rs1388730850	61	N>S		No	ClinGen gnomAD
rs761968810 CA978923	63	R>K		No	ClinGen ExAC gnomAD
CA341233067 rs761968810	63	R>T		No	ClinGen ExAC gnomAD
rs1461436472 CA341233061	64	P>S		No	ClinGen gnomAD
CA29215579 rs759779685 CA978920	66	M>L		No	ClinGen ExAC gnomAD
rs1024853356 CA29215578	67	S>P		No	ClinGen gnomAD
CA341233033 rs1571203530	68	Q>R		No	ClinGen Ensembl
CA341232490 rs1415620138	70	L>F		No	ClinGen gnomAD
CA29205566 rs151122345	79	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA gnomAD
CA978891 rs144277684 COSM1232205	80	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs377515085 CA978888	82	C>Y		No	ClinGen ESP ExAC gnomAD
CA29205565 rs913037317	83	C>S		No	ClinGen Ensembl
rs1356071830 CA341232233	85	T>M		No	ClinGen gnomAD
rs374189962 CA978886	85	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA341232223 rs1208405978	86	F>I		No	ClinGen gnomAD
CA978884 rs763184927	86	F>Y		No	ClinGen ExAC TOPMed gnomAD
CA341232204 CA978883 rs753629432	87	G>R		No	ClinGen ExAC gnomAD
CA341232195 rs1368689777	87	G>V		No	ClinGen TOPMed
rs773013553 CA978881	88	M>R		No	ClinGen ExAC gnomAD
CA978880 rs773013553	88	M>T		No	ClinGen ExAC gnomAD
rs766061490 CA978882	88	M>V		No	ClinGen ExAC gnomAD
rs1553224090 CA341232112	92	E>G		No	ClinGen Ensembl
rs144018167 CA978879	93	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA978877 rs774017063	94	F>S		No	ClinGen ExAC gnomAD
rs377367526 CA978875	95	E>K		No	ClinGen ExAC gnomAD
CA341232028 rs1466441587	96	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA341232012 rs1405207669	98	D>G		No	ClinGen gnomAD
CA341232011 rs1405207669	98	D>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs577192703 CA978873	100	F>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs61761613 CA978871	103	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs61761613 CA978870	103	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs372445365 CA978868	103	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs372445365 COSM1320186 CA978869	103	R>L	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA341231975 rs1280298146	104	D>A		No	ClinGen TOPMed
CA341231978 rs1489401983	104	D>N		No	ClinGen gnomAD
TCGA novel	106	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200164437 CA29205564	106	G>V		No	ClinGen 1000Genomes gnomAD
CA341195648 rs1227078751	109	I>V		No	ClinGen gnomAD
rs757112604 CA978819	110	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1284355877 CA341195626	111	T>A		No	ClinGen TOPMed
rs751403502 CA978818	111	T>K		No	ClinGen ExAC gnomAD
CA978817 rs764063909	114	R>*		No	ClinGen ExAC TOPMed gnomAD
CA341195591 rs1570941771	114	R>Q		No	ClinGen Ensembl
CA341195561 COSM1332289 rs1296119424	117	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA341195556 rs758385220	117	R>L		No	ClinGen ExAC TOPMed gnomAD
CA978816 rs758385220	117	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA341195525 rs1271303241	120	I>T		No	ClinGen TOPMed
CA978814 rs764774718	120	I>V		No	ClinGen ExAC TOPMed gnomAD
rs371203483 CA978813	121	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA341195520 rs1557841898	121	A>T		No	ClinGen Ensembl
rs371203483 COSM267745 CA341195517	121	A>V	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA341195512 rs1187990718	122	L>*		No	ClinGen gnomAD
TCGA novel	122	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA978810 rs200980013	124	T>I		No	ClinGen ExAC TOPMed gnomAD
rs773583357 CA978809	125	G>R		No	ClinGen ExAC gnomAD
rs1227716058 CA341195457	127	R>W		No	ClinGen TOPMed gnomAD
rs760349042 CA978786	130	P>L		No	ClinGen ExAC gnomAD
rs750112835 CA978785	131	T>I		No	ClinGen ExAC gnomAD
TCGA novel	132	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341195189 rs1355361627	132	E>D		No	ClinGen TOPMed
CA341195181 rs1465021659	133	E>D		No	ClinGen gnomAD
CA341195183 rs1326547408	133	E>G		No	ClinGen gnomAD
CA341195149 rs1570938536	137	D>E		No	ClinGen Ensembl
CA978781 rs769047903	139	D>E		No	ClinGen ExAC gnomAD
CA978782 rs34318889 VAR_061800 RCV000969403	139	D>N		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs371302195 CA978780	140	I>V		No	ClinGen ExAC gnomAD
rs1340409870 CA341195110	143	G>C		No	ClinGen TOPMed
CA341195107 rs1196290292	143	G>V		No	ClinGen gnomAD
TCGA novel	147	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	148	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	149	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA978759 rs759747755	150	E>G		No	ClinGen ExAC gnomAD
rs776908186 CA978757	151	T>S		No	ClinGen ExAC gnomAD
CA978754 rs112263179	153	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA28555445 rs112263179	153	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs774039022 CA341194708	155	D>G		No	ClinGen ExAC gnomAD
rs774039022 CA978753	155	D>V		No	ClinGen ExAC gnomAD
CA341194691 rs1214720873	156	E>V		No	ClinGen gnomAD
rs1362300566	157	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341194669 rs1284488001	158	D>G		No	ClinGen TOPMed
rs749199443 CA978751	158	D>H		No	ClinGen ExAC gnomAD
rs1223884474 CA341194660 COSM893334	159	L>F	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA978750 rs780020621	160	Y>C		No	ClinGen ExAC gnomAD
CA341194651 rs1286061525	160	Y>H		No	ClinGen TOPMed gnomAD
rs1281927164 CA341194618	162	C>*		No	ClinGen gnomAD
rs1355503400 CA341194620	162	C>F		No	ClinGen gnomAD
TCGA novel	162	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1355503400 CA341194622	162	C>Y		No	ClinGen gnomAD
CA341194611 rs1450262021	163	V>I		No	ClinGen TOPMed
rs1383627748 CA341194600	164	Y>D		No	ClinGen gnomAD
rs776442902 CA28555403	165	G>E		No	ClinGen Ensembl
CA28555384 rs572741201	169	G>S		No	ClinGen TOPMed gnomAD
rs993480779 CA28555382	170	G>E		No	ClinGen TOPMed gnomAD
rs745373808 CA978747	170	G>R		No	ClinGen ExAC gnomAD
rs780840042 CA978746	172	V>I		No	ClinGen ExAC gnomAD
rs748713982 CA978745	174	E>G		No	ClinGen ExAC gnomAD
rs764336806 CA978743	175	D>E		No	ClinGen ExAC TOPMed gnomAD
CA28555345 rs866510598	177	M>I		No	ClinGen Ensembl
CA341194486 rs1422972149	179	A>S		No	ClinGen gnomAD
rs1191837957 CA341194468	181	E>D		No	ClinGen gnomAD
rs753243195 CA978741	182	A>T		No	ClinGen ExAC gnomAD
CA978740 rs765912873	183	H>R		No	ClinGen ExAC gnomAD
rs994664494 CA28555329	184	Q>P		No	ClinGen Ensembl
rs1326061982 CA341194081	186	K>R		No	ClinGen TOPMed
CA28553357 rs61761614	191	D>G		No	ClinGen gnomAD
rs140605941 CA978728	191	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs982899594 CA28553351	192	I>T		No	ClinGen Ensembl
rs1237040150 CA341194002	193	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs746621549 COSM227680 CA978727	193	R>Q	Variant assessed as Somatic; 0.0 impact. NS endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA341193992 rs1273356370	194	S>N		No	ClinGen gnomAD
rs777628963 CA978726	194	S>R		No	ClinGen ExAC gnomAD
CA978724 rs753116628	198	A>S		No	ClinGen ExAC gnomAD
rs1442322211 CA524905725	201	K>S		No	ClinGen gnomAD
rs755467373 CA978722	202	Q>R		No	ClinGen ExAC gnomAD
rs766341608 CA978720	203	T>A		No	ClinGen ExAC gnomAD
rs1333800522 CA341193883	204	E>K		No	ClinGen gnomAD
rs1282594059 COSM3975808 CA341193831	208	T>A	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1010856010 CA28553280	208	T>I		No	ClinGen TOPMed
CA341193819 rs1252494219	209	E>A		No	ClinGen TOPMed
rs1175214176 CA341193809	210	T>A		No	ClinGen gnomAD
TCGA novel	212	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341193776 rs1454668700	213	S>A		No	ClinGen gnomAD
CA978716 rs762676911	213	S>L		No	ClinGen ExAC gnomAD
CA978714 rs769677377	214	I>T		No	ClinGen ExAC TOPMed gnomAD
CA978715 rs775285750	214	I>V		No	ClinGen ExAC gnomAD
CA341193742 rs6583048	216	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770906376 CA978693	220	A>T		No	ClinGen ExAC TOPMed gnomAD
CA978692 rs760046318	222	L>P		No	ClinGen ExAC TOPMed gnomAD
COSM1332286 rs772875595 CA978691	224	R>G	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA341193677 rs1459473835	224	R>I		No	ClinGen gnomAD
CA28551110 rs375937748	225	F>V		No	ClinGen ESP TOPMed
TCGA novel	229	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1557833893 CA341193625	230	E>A		No	ClinGen Ensembl
CA341193610 rs1557833883	231	F>Y		No	ClinGen Ensembl
rs1286566361 CA341193598	232	D>G		No	ClinGen TOPMed
CA978688 COSM462522 rs531262645	236	I>M	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs1260118112 CA341193549	236	I>V		No	ClinGen gnomAD
CA341193528 rs1336984805	238	I>L		No	ClinGen TOPMed
CA341193513 rs1486392535	239	P>A		No	ClinGen gnomAD
CA978687 rs768894574	239	P>L		No	ClinGen ExAC gnomAD
CA28549387 rs953280938	240	E>D		No	ClinGen Ensembl
CA978664 rs576510723	242	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1393658531 CA341193388	243	K>R		No	ClinGen TOPMed gnomAD
rs1299581798 CA341193375	244	L>H		No	ClinGen gnomAD
rs149523730 CA978662	246	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201661016 CA978660	246	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs149523730 CA978661	246	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1557832636 CA341193323	249	M>I		No	ClinGen Ensembl
CA978659 rs747096737	249	M>V		No	ClinGen ExAC gnomAD
rs777801888 CA978658	250	Q>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	251	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA978657 rs758670130	253	H>R		No	ClinGen ExAC TOPMed gnomAD
CA341193270 COSM1688198 rs1308147421	254	D>N	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
rs766169217 CA978655	255	S>P		No	ClinGen ExAC gnomAD
rs370601141 CA978654	256	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1196621467 CA341193245	256	I>V		No	ClinGen gnomAD
rs1390182724 CA341193231	257	V>A		No	ClinGen TOPMed
rs1341589311 CA341193223	258	N>I		No	ClinGen TOPMed
CA341193181 rs1014598719 CA28549286	261	D>E		No	ClinGen gnomAD
rs767562603 CA978652	261	D>G		No	ClinGen ExAC gnomAD
CA341193174 rs1304125385	262	Q>P		No	ClinGen gnomAD
rs773932363 CA978650	264	L>F		No	ClinGen ExAC TOPMed gnomAD
CA978649 rs763612413	266	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA341193116 rs1206076487	267	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA341193070 rs1250841481	272	K>R		No	ClinGen TOPMed
rs1376410903 CA341193056	274	R>K		No	ClinGen gnomAD
rs1376410903 CA341193055	274	R>T		No	ClinGen gnomAD
TCGA novel	275	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772951746 CA28548173	279	G>R		No	ClinGen gnomAD
CA978628 rs768269706	282	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1234782166 CA341192380	283	S>N		No	ClinGen gnomAD
CA341192388 COSM1270165 rs1557831609	283	S>R	oesophagus [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1269988603 CA341192354	285	V>A		No	ClinGen gnomAD
CA341192358 rs1334997602	285	V>L		No	ClinGen TOPMed gnomAD
rs1334997602 CA341192362	285	V>M		No	ClinGen TOPMed gnomAD
rs1461652541 CA341192346	286	E>G		No	ClinGen TOPMed
rs764875137 CA978627	286	E>Q		No	ClinGen ExAC gnomAD
CA28548146 rs938606749	287	S>L		No	ClinGen Ensembl
rs1411247559 CA341192306	289	I>T		No	ClinGen TOPMed
CA341192311 rs1319613907	289	I>V		No	ClinGen TOPMed gnomAD
CA341192290 rs1392418711	290	S>F		No	ClinGen gnomAD
rs761216373 CA978623	293	D>V		No	ClinGen ExAC gnomAD
rs772183820 CA978621	297	K>E		No	ClinGen ExAC gnomAD
CA341192204 rs1170576398	298	T>I		No	ClinGen TOPMed
CA978619 rs7528153 VAR_033522	298	T>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs769017845 CA978618	299	K>E		No	ClinGen ExAC gnomAD
rs1371949484 CA341192172	301	D>V		No	ClinGen TOPMed
rs781100760 CA341192144	303	K>I		No	ClinGen ExAC gnomAD
rs781100760 CA978616	303	K>R		No	ClinGen ExAC gnomAD
rs1232592215 CA341192116	304	L>R		No	ClinGen Ensembl
rs1570919446 CA341192069	307	E>G		No	ClinGen Ensembl
CA341191077 rs1433936674	308	E>V		No	ClinGen gnomAD
CA28544447 rs953183155	309	C>F		No	ClinGen Ensembl
rs1433664571 CA341190996	313	A>S		No	ClinGen TOPMed gnomAD
rs868631849 CA28544440	316	G>R		No	ClinGen Ensembl
CA978587 rs750771007	317	K>R		No	ClinGen ExAC gnomAD
rs750771007 CA341190933	317	K>T		No	ClinGen ExAC gnomAD
rs1252178608 CA341190877	321	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs139065569 CA978586	321	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1282850137 CA341190845	323	L>F		No	ClinGen gnomAD
rs897955695 CA28544391	328	M>I		No	ClinGen TOPMed
CA978583 rs764254114	330	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA978582 rs763191415	330	R>H		No	ClinGen ExAC TOPMed gnomAD
CA341190626 rs1275401369	338	L>F		No	ClinGen TOPMed
TCGA novel	338	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA978580 rs769921886	339	Q>H		No	ClinGen ExAC gnomAD
rs1292946764 CA341190606	339	Q>R		No	ClinGen gnomAD
CA341189712 rs1428331751	342	V>I		No	ClinGen gnomAD
CA978559 rs771752347	343	K>R		No	ClinGen ExAC gnomAD
rs1188821427 CA341189675	344	H>R		No	ClinGen gnomAD
rs748006794 CA978557	348	P>A		No	ClinGen ExAC TOPMed gnomAD
rs372033225 CA978556	348	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs748006794 CA341189619	348	P>T		No	ClinGen ExAC TOPMed gnomAD
rs150986952 CA978554	349	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA978553 rs779397438	351	K>N		No	ClinGen ExAC gnomAD
CA341189561 rs1468257428	352	A>E		No	ClinGen TOPMed
rs755695998 CA978552	353	N>K		No	ClinGen ExAC gnomAD
rs745491802 CA978551	355	K>N		No	ClinGen ExAC gnomAD
CA978549 rs757627565	358	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs368558207 CA28541106	360	A>V		No	ClinGen Ensembl
rs1483287881 CA341188546	363	D>Y		No	ClinGen gnomAD
rs1279278788 CA341188476	365	A>V		No	ClinGen gnomAD
CA341188422 rs1208675911	367	Y>C		No	ClinGen gnomAD
rs368107036 CA978522	368	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs781742429 CA28539330	370	E>D		No	ClinGen TOPMed
CA978519 rs763860680	373	R>T		No	ClinGen ExAC gnomAD
CA341188228 rs1557823894 COSM1332285	374	D>G	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1289889056 CA341188150	378	L>F		No	ClinGen gnomAD
rs771896813 CA978518	379	R>C		No	ClinGen ExAC TOPMed gnomAD
rs771896813 CA978517	379	R>G		No	ClinGen ExAC TOPMed gnomAD
RCV000903568 CA978515 rs35313815	379	R>H		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA978516 rs35313815	379	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs934088012 CA28539241	381	I>F		No	ClinGen TOPMed
CA978514 rs776236582	387	S>A		No	ClinGen ExAC TOPMed gnomAD
rs1403610056 CA341187958	388	I>V		No	ClinGen TOPMed gnomAD
CA978513 rs746638661	389	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1269937070 CA341187832	394	P>A		No	ClinGen gnomAD
CA978492 rs772992671	395	V>A		No	ClinGen ExAC TOPMed gnomAD
CA28535499 rs373482800	397	L>P		No	ClinGen ESP TOPMed
CA978491 rs771906225	398	F>S		No	ClinGen ExAC gnomAD
rs369270144 CA978490	400	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs774815323 CA978489	400	R>P		No	ClinGen ExAC TOPMed gnomAD
rs774815323 CA341187768	400	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA28535492 COSM1688197 rs866678009	408	R>*	Variant assessed as Somatic; 0.0 impact. skin breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA978487 COSM172353 rs377138310	408	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA341187684 rs1189095186	409	I>V		No	ClinGen gnomAD
rs780546434 CA978486	410	T>I		No	ClinGen ExAC gnomAD
rs772000423 CA341187676	410	T>P		No	ClinGen Ensembl
rs772000423 CA28535486	410	T>S		No	ClinGen Ensembl
CA341187666 rs1250543549	411	T>A		No	ClinGen gnomAD
rs146885437 CA978484	414	K>E		No	ClinGen ESP ExAC gnomAD
CA28535429 rs372310293	415	H>Y		No	ClinGen ESP TOPMed
rs1367607002 CA341187586	418	Q>K		No	ClinGen TOPMed
rs1435927404 CA341187563	420	R>G		No	ClinGen TOPMed
rs761582168 CA28535405	420	R>T		No	ClinGen Ensembl
CA978457 rs753742185	421	H>Q		No	ClinGen ExAC gnomAD
CA28534239 rs911084284	421	H>R		No	ClinGen gnomAD
rs756156517 CA978455	422	I>N		No	ClinGen ExAC TOPMed gnomAD
CA978456 rs780113769	422	I>V		No	ClinGen ExAC TOPMed gnomAD
rs985384000 CA28534188	424	L>I		No	ClinGen Ensembl
TCGA novel	426	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1178106726 CA341187270	428	A>T		No	ClinGen gnomAD
rs1406545730 CA341187234	429	V>A		No	ClinGen gnomAD
rs200181110 CA978453	430	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA978451 rs367543372	431	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	432	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	436	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA28534087 rs373676319	436	G>D		No	ClinGen ESP ExAC gnomAD
rs373676319 CA978450	436	G>V		No	ClinGen ESP ExAC gnomAD
rs763283776 CA978449	437	D>E		No	ClinGen ExAC gnomAD
rs770175849 CA978447	439	Y>*		No	ClinGen ExAC gnomAD
rs1239760036 CA341187015	439	Y>C		No	ClinGen gnomAD
rs1230468234 CA341186853	445	I>M		No	ClinGen gnomAD
TCGA novel	446	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	447	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341186825 rs1330021691	447	L>R		No	ClinGen gnomAD
rs777135549 CA341186820	448	Q>*		No	ClinGen ExAC gnomAD
rs777135549 CA978444	448	Q>K		No	ClinGen ExAC gnomAD
CA341186802 rs1570891142	449	Q>*		No	ClinGen Ensembl
CA978443 rs770975808	449	Q>P		No	ClinGen ExAC gnomAD
CA28534053 rs936552092	450	Y>*		No	ClinGen Ensembl
rs747122607 CA978442	452	I>L		No	ClinGen ExAC TOPMed gnomAD
CA341186744 rs1440825480	452	I>M		No	ClinGen TOPMed
CA341186751 rs1304538582	452	I>R		No	ClinGen gnomAD
TCGA novel	452	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747122607 CA341186755	452	I>V		No	ClinGen ExAC TOPMed gnomAD
CA978441 rs778040461	453	A>G		No	ClinGen ExAC TOPMed gnomAD
CA28534051 rs972772455	453	A>T		No	ClinGen Ensembl
CA978439 rs749056634	454	N>S		No	ClinGen ExAC gnomAD
CA341186689 rs7340007	456	P>H		No	ClinGen TOPMed gnomAD
rs7340007 CA28533990	456	P>L		No	ClinGen TOPMed gnomAD
CA341186687 rs1364830850	457	T>A		No	ClinGen gnomAD
CA978438 rs779951393	458	T>I		No	ClinGen ExAC TOPMed gnomAD
CA978435 rs781060592 COSM1317713	459	D>E	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1426296728 CA341186673	459	D>G		No	ClinGen gnomAD
rs1024673344 CA28533952	460	K>*		No	ClinGen Ensembl
TCGA novel	460	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	461	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1557817990 CA341186661	461	E>A		No	ClinGen Ensembl
CA978433 rs751081942	461	E>K		No	ClinGen ExAC gnomAD
CA978432 rs763772345	462	N>D		No	ClinGen ExAC gnomAD
rs762553183 CA978431	462	N>K		No	ClinGen ExAC gnomAD
TCGA novel	464	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	465	W>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs17229654 CA978406	466	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1557817594 CA916257393	467	Y>*		No	ClinGen Ensembl
rs1464221135 CA341186005	467	Y>C		No	ClinGen TOPMed
rs769050659 CA978401	470	Y>*		No	ClinGen ExAC gnomAD
CA978402 rs774704288	470	Y>F		No	ClinGen ExAC gnomAD
rs931133394 CA28533378	470	Y>H		No	ClinGen TOPMed
CA978403 rs774704288	470	Y>S		No	ClinGen ExAC gnomAD
rs745647446 CA978400	471	L>P		No	ClinGen ExAC gnomAD
rs776251733 CA978399	472	I>F		No	ClinGen ExAC gnomAD
rs770783606 CA978398	472	I>N		No	ClinGen ExAC
rs1176817010 CA341185927	473	H>R		No	ClinGen gnomAD
rs1268374019 CA341185931	473	H>Y		No	ClinGen TOPMed gnomAD
CA978397 rs746864641	474	T>I		No	ClinGen ExAC gnomAD
CA341185912 rs746864641	474	T>S		No	ClinGen ExAC gnomAD
rs377080778 CA978396	475	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	476	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341185864 rs1342709987	478	N>D		No	ClinGen TOPMed gnomAD
rs1255327035 CA341185860	478	N>S		No	ClinGen gnomAD
CA341185836 rs1570889999	480	L>V		No	ClinGen Ensembl
rs1313407781 CA341185767	483	Y>*		No	ClinGen gnomAD
CA978394 rs747713918	484	C>R		No	ClinGen ExAC gnomAD
CA341185736 rs1408797467	485	K>R		No	ClinGen gnomAD
TCGA novel	486	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs562928533 CA28533336	487	K>Q		No	ClinGen gnomAD
CA978392 rs754662679	490	K>R		No	ClinGen ExAC gnomAD
rs753555981 CA978391	492	K>Q		No	ClinGen ExAC gnomAD
CA341185496 rs1570889892	495	E>K		No	ClinGen Ensembl
rs1378228835 CA341185467	496	Q>R		No	ClinGen gnomAD
CA978388 rs750893620	498	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1037337938 CA28533300	500	A>T		No	ClinGen gnomAD
rs750852069 CA978367	502	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA341232685 rs1207630853	503	N>S		No	ClinGen gnomAD
rs757801131 CA978365	504	I>R		No	ClinGen ExAC TOPMed gnomAD
CA978366 rs150972869	504	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1459621591 CA341232660	507	D>G		No	ClinGen TOPMed
CA341232653 rs1294382526	508	Y>D		No	ClinGen TOPMed
rs1282715737 CA341232647	509	A>T		No	ClinGen gnomAD
CA341232644 rs1247638432	509	A>V		No	ClinGen gnomAD
CA341232628 rs1341649361	511	S>F		No	ClinGen gnomAD
CA341232629 rs1341649361	511	S>Y		No	ClinGen gnomAD
CA978363 rs764213147	512	N>S		No	ClinGen ExAC gnomAD
CA978360 rs765553642	515	D>E		No	ClinGen ExAC
rs1321493053 CA341232590	516	F>L		No	ClinGen TOPMed gnomAD
CA978359 rs760363086	517	K>E		No	ClinGen ExAC gnomAD
CA341232586 rs1240151580	517	K>R		No	ClinGen TOPMed
rs771882352 CA341232562	520	T>I		No	ClinGen ExAC TOPMed gnomAD
CA978357 rs771882352	520	T>N		No	ClinGen ExAC TOPMed gnomAD
CA29200800 rs79783202	522	T>N		No	ClinGen Ensembl
CA341232546 rs1570788059	523	R>*		No	ClinGen Ensembl
CA978356 rs372568687	523	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA978355 rs372568687	523	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs767980901 CA978354	524	V>I		No	ClinGen ExAC gnomAD
rs748889679 CA978353	525	T>I		No	ClinGen ExAC TOPMed gnomAD
CA978351 rs769529524	526	S>F		No	ClinGen ExAC TOPMed gnomAD
CA978350 rs745550018	532	M>V		No	ClinGen ExAC gnomAD
CA341232439 rs1212072836	534	L>P		No	ClinGen gnomAD
CA341232434 rs1357459277	535	R>K		No	ClinGen gnomAD
rs919682230 CA29200769	536	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1342936108 CA341232380	537	T>A		No	ClinGen gnomAD
CA978334 rs775028212	539	Y>F		No	ClinGen ExAC gnomAD
TCGA novel	540	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1437411989 CA341232340	540	Q>H		No	ClinGen gnomAD
rs769211364 CA978333	544	C>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs191384646 CA978332	544	C>S		No	ClinGen 1000Genomes ExAC gnomAD
rs191384646 CA978331	544	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	546	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA978330 rs771418063	549	A>V	Variant assessed as Somatic; 0.0002319 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs972927294 CA29200768	550	R>K		No	ClinGen Ensembl
rs756431391 CA29200767 COSM893325	551	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1168987060 CA341232207	553	K>T		No	ClinGen TOPMed
CA978327 rs758982224	555	C>Y		No	ClinGen ExAC gnomAD
CA29200766 rs1025059378	557	G>E		No	ClinGen gnomAD
rs150870743 CA29200765	561	N>S		No	ClinGen ESP TOPMed
CA341232088 rs1180556075 COSM1232206	563	G>D	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	569	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750635192 CA978302	570	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA978301 rs777567411	570	Q>H		No	ClinGen ExAC gnomAD
rs752487364 CA29198971	573	L>F		No	ClinGen gnomAD
rs200312853 CA29198970	574	K>R		No	ClinGen Ensembl
CA978299 rs141477879	575	L>R		No	ClinGen ESP ExAC TOPMed
CA978282 rs781335635	579	R>Q		No	ClinGen ExAC gnomAD
CA978283 rs375932837	579	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA978279 COSM1600471 COSM1600470 rs780335876	584	R>*	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA978280 rs780335876	584	R>G		No	ClinGen ExAC TOPMed gnomAD
CA978276 rs368084503	584	R>L		No	ClinGen ESP TOPMed gnomAD
CA978277 rs368084503	584	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs1003316974 CA29198474	585	R>I		No	ClinGen TOPMed gnomAD
rs1487401595 CA341230185	588	K>Q		No	ClinGen gnomAD
rs1270697072 CA341230155	590	V>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs923179203 CA29198472	590	V>M		No	ClinGen TOPMed
CA341232983 rs1386203017	595	P>S		No	ClinGen gnomAD
rs764378586 CA978249	597	M>L		No	ClinGen ExAC gnomAD
CA29194021 rs1022824857	598	Q>K		No	ClinGen gnomAD
rs1185265316 CA341232947	600	I>V		No	ClinGen gnomAD
rs1445960441 CA341232941	601	R>G		No	ClinGen gnomAD
CA978247 rs775962467	601	R>K		No	ClinGen ExAC gnomAD
rs1288885749 CA341232937	601	R>S		No	ClinGen gnomAD
CA978245 rs149049672	602	N>I		No	ClinGen ESP ExAC gnomAD
rs149049672 CA978246	602	N>S		No	ClinGen ESP ExAC gnomAD
CA978244 rs374251192	603	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA978243 rs199768177	604	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747142681 CA978242	605	G>A		No	ClinGen ExAC gnomAD
rs1264229536 CA341232901	607	P>L		No	ClinGen gnomAD
CA341232900 rs1248759131	608	P>S		No	ClinGen gnomAD
rs1347425056 CA341232892	609	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs904799312 CA29194019	610	A>T		No	ClinGen TOPMed gnomAD
CA341232880 rs1424399015	611	L>P		No	ClinGen TOPMed gnomAD
CA341232875 rs768563869	612	H>P		No	ClinGen ExAC gnomAD
CA978240 rs768563869	612	H>R		No	ClinGen ExAC gnomAD
rs1296898369 CA341232878	612	H>Y		No	ClinGen gnomAD
rs998737191 CA29194018	613	E>A		No	ClinGen Ensembl
rs144957554 CA978238	614	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745842085 CA29194017	615	P>L		No	ClinGen ExAC gnomAD
rs745842085 CA978236	615	P>R		No	ClinGen ExAC gnomAD
TCGA novel	616	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_051998 CA978234 rs12410676	616	P>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM48841 CA978233 rs751209838	618	Q>E	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA978232 VAR_033523 rs12403266	618	Q>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs910569448 CA29194016	619	L>I		No	ClinGen Ensembl
CA978231 rs572339667	620	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
COSM1270163 CA978228 COSM1270164 rs765664381	622	G>R	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1557727461 CA341232809	623	D>V		No	ClinGen Ensembl
CA341232805 rs1225387693	624	T>A		No	ClinGen gnomAD
COSM1232207 CA978225 COSM1232208 rs144725884	625	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1221717447 CA341232785	627	L>I		No	ClinGen gnomAD
CA29194014 rs982913403	630	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1359864036 TCGA novel CA341232767	630	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed gnomAD
rs773551161 CA978223	631	D>E		No	ClinGen ExAC gnomAD
rs142082399 CA978224	631	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA978222 rs146124612	632	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA341232740 rs1330312412	634	S>N		No	ClinGen gnomAD
CA341232739 rs1330312412	634	S>T		No	ClinGen gnomAD
TCGA novel	635	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341232713 rs749056764	638	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs749056764 CA978221	638	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1570621317 CA341230102	640	R>I		No	ClinGen Ensembl
rs1233961425 CA341230091	641	N>S		No	ClinGen gnomAD
TCGA novel	642	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	645	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs576499843 CA341229997	647	V>A		No	ClinGen gnomAD
CA29191275 rs576499843	647	V>G		No	ClinGen gnomAD
CA29191274 rs1029062171	648	G>*		No	ClinGen Ensembl
CA978189 rs770897183	652	S>N		No	ClinGen ExAC TOPMed gnomAD
CA341229891 rs1164128225	653	D>G		No	ClinGen TOPMed
rs1570621250 CA341229852	655	V>I		No	ClinGen Ensembl
rs1204501050 COSM342300 CA341229780	657	P>L	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1460292362 CA341229769	658	C>S		No	ClinGen TOPMed
CA341229727 rs1324008947	659	P>A		No	ClinGen gnomAD
CA341229725 rs1324008947	659	P>S		No	ClinGen gnomAD
CA341229687 rs1427354502	660	C>F		No	ClinGen TOPMed gnomAD
CA341229702 rs1427354502	660	C>Y		No	ClinGen TOPMed gnomAD
rs751722264	661	V>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	666	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1242147056 CA341231884	668	S>F		No	ClinGen TOPMed
rs759222206 CA978172	669	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs138334746 RCV000952854 CA978171	671	P>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA341231753 rs1197522576	672	W>C		No	ClinGen TOPMed
CA29189742 rs867841038	674	A>S		No	ClinGen Ensembl
CA978152 rs767109206	678	E>K		No	ClinGen ExAC gnomAD
TCGA novel	679	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1352797205 CA341231675	680	L>W		No	ClinGen gnomAD
rs758600345 CA978151	681	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs964389512 CA29189741	681	Q>R		No	ClinGen Ensembl
CA978150 rs752873859	682	A>T		No	ClinGen ExAC gnomAD
rs773120840 CA978147	684	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1017345987 CA29189740	684	T>S		No	ClinGen TOPMed
rs139894223 COSM200725 CA978145	685	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1570594369 CA341231622	686	L>I		No	ClinGen Ensembl
CA29189738 rs1025532758	688	N>H		No	ClinGen TOPMed
CA341231598 rs1249049106	688	N>S		No	ClinGen gnomAD
CA341231579 rs1307786991	690	V>I		No	ClinGen TOPMed gnomAD
CA341231566 rs1282212425	691	N>S		No	ClinGen gnomAD
CA978143 rs768070977	692	S>T		No	ClinGen ExAC gnomAD
rs1241477196 CA341231544	693	T>N		No	ClinGen TOPMed
rs370166897 CA29189737	695	L>I		No	ClinGen ESP
rs1284522417 CA341231503	697	R>K		No	ClinGen gnomAD
CA341231484 rs1310191330	699	R>K		No	ClinGen TOPMed
CA978142 rs748907634	700	T>N		No	ClinGen ExAC gnomAD
CA978141 rs775352646	701	K>E		No	ClinGen ExAC gnomAD
rs770273229 CA978140	704	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1238411066 CA341231382	705	E>D		No	ClinGen TOPMed
CA978138 rs781755295	705	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs151104546 COSM1583205 COSM893320 CA978139	705	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA978137 rs757743124	706	Y>C		No	ClinGen ExAC gnomAD
rs747494332 CA978136	707	A>E		No	ClinGen ExAC gnomAD
rs1294649530 CA341231355	707	A>T		No	ClinGen TOPMed
CA978135 rs777853487	708	I>V		No	ClinGen ExAC gnomAD
rs566485511 CA978134	709	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1178478034 CA341231309	710	I>V		No	ClinGen gnomAD
TCGA novel	714	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	717	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341231105 rs1262142372	718	H>R		No	ClinGen gnomAD
rs755336967 CA29189681	719	I>T		No	ClinGen TOPMed gnomAD
CA978113 rs754077861	719	I>V		No	ClinGen ExAC gnomAD
CA978110 rs751504688	721	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1445895132 CA341231050	723	T>A		No	ClinGen gnomAD
CA978109 rs763990917	723	T>I		No	ClinGen ExAC gnomAD
rs1445895132 CA341231049	723	T>P		No	ClinGen gnomAD
CA978108 rs762497588	725	D>N		No	ClinGen ExAC TOPMed gnomAD
CA341231016 rs1228837177	726	G>D		No	ClinGen TOPMed
rs764863269 CA978106	730	I>V		No	ClinGen ExAC TOPMed gnomAD
CA978105 rs759208923	731	A>T		No	ClinGen ExAC gnomAD
rs1360200088 CA341230926	735	K>E		No	ClinGen gnomAD
CA341230909 rs1570592833	736	F>C		No	ClinGen Ensembl
rs761002099 CA978102	736	F>L		No	ClinGen ExAC gnomAD
TCGA novel	736	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341230903 rs1225435322	737	K>*		No	ClinGen TOPMed gnomAD
TCGA novel	741	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341230034 rs17229705	741	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA978083 rs183715673	741	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA341230010 rs1408463816	742	L>F		No	ClinGen gnomAD
TCGA novel	742	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341229995 rs1170890777	743	V>M		No	ClinGen gnomAD
rs1427561277 CA341229979	744	E>K		No	ClinGen gnomAD
CA341229930 rs1156741758	746	Y>C		No	ClinGen gnomAD
rs1165504165 CA341229901	748	H>Y		No	ClinGen TOPMed
CA978081 rs762248588	749	H>N		No	ClinGen ExAC gnomAD
CA978080 rs774841724	750	S>T		No	ClinGen ExAC gnomAD
CA978079 rs768711543	753	E>D		No	ClinGen ExAC gnomAD
CA978078 rs749420036	754	G>A		No	ClinGen ExAC gnomAD
CA341229801 rs1439583090	755	F>I		No	ClinGen TOPMed gnomAD
rs1439583090 CA341229798	755	F>L		No	ClinGen TOPMed gnomAD
TCGA novel	759	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA29189046 rs891490780	760	T>R		No	ClinGen TOPMed
CA341229708 rs1301756062	761	T>A		No	ClinGen TOPMed
CA341229706 rs1301756062	761	T>S		No	ClinGen TOPMed
CA341229689 rs1203196715	762	L>R		No	ClinGen gnomAD
rs1392531112 CA341229663	764	F>V		No	ClinGen TOPMed
rs746128104 CA978075	764	F>Y		No	ClinGen ExAC TOPMed gnomAD
rs777377166 CA978074	767	K>E		No	ClinGen ExAC gnomAD
CA341229581 rs1247544330	771	H>D		No	ClinGen TOPMed
CA978072 rs748095487	773	A>S		No	ClinGen ExAC TOPMed gnomAD
CA341229551 rs1336978728	773	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	774	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1183656153 CA341229544	774	G>E		No	ClinGen gnomAD
CA978071 rs78276319	775	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA978070 rs560463720	776	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA29189044 rs936570789	776	R>K		No	ClinGen gnomAD
CA341229510 rs540470156	777	G>C		No	ClinGen 1000Genomes TOPMed
CA29189043 rs540470156	777	G>R		No	ClinGen 1000Genomes TOPMed
rs781339214 CA978068	779	R>K		No	ClinGen ExAC gnomAD
CA978066 rs755673779	780	A>G		No	ClinGen ExAC TOPMed gnomAD
CA978067 rs765941028	780	A>S		No	ClinGen ExAC gnomAD
TCGA novel	781	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA29186657 rs778618745	785	L>I		No	ClinGen Ensembl
CA978036 rs771315794	791	G>D		No	ClinGen ExAC gnomAD
CA978034 rs774235876	794	I>V		No	ClinGen ExAC gnomAD
CA978032 rs749112269	795	A>T		No	ClinGen ExAC gnomAD
rs142668144 CA978029	796	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA978030 rs769172437	796	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA341228435 rs1329116208	797	Y>C		No	ClinGen TOPMed
CA341228438 rs1269293342	797	Y>H		No	ClinGen TOPMed
COSM1497422 CA978028 COSM1497423 rs780713869	798	D>E	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	799	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	799	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1191800558 CA341228400	802	R>K		No	ClinGen gnomAD
CA978026 rs751226349	803	D>G		No	ClinGen ExAC gnomAD
CA978024 rs758868025	804	M>R		No	ClinGen ExAC TOPMed gnomAD
rs758868025 CA341228384	804	M>T		No	ClinGen ExAC TOPMed gnomAD
rs753133381 CA978023	805	R>K		No	ClinGen ExAC gnomAD
rs374819145 CA978022	806	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs531549477 CA978021	808	S>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1570539170 CA341228360	808	S>T		No	ClinGen Ensembl
TCGA novel	810	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753925092 CA978019	813	D>N		No	ClinGen ExAC gnomAD
CA341228325 rs1447121827	813	D>V		No	ClinGen TOPMed gnomAD
TCGA novel	815	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341228307 rs1405612242	816	K>E		No	ClinGen gnomAD
rs1175487906 CA341228301	816	K>N		No	ClinGen TOPMed gnomAD
rs1468017000 CA341228298	817	I>F		No	ClinGen TOPMed gnomAD
RCV000921879 CA978018 rs142245622	819	T>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs760922354 CA978017	827	W>G		No	ClinGen ExAC gnomAD
rs773571766 CA978016	827	W>S		No	ClinGen ExAC gnomAD
CA978015 rs768330479	828	R>G		No	ClinGen ExAC
rs1405092927 CA341228206	830	E>K		No	ClinGen gnomAD
CA341228189 rs370762482	832	N>S		No	ClinGen ESP ExAC gnomAD
CA978012 rs370762482	832	N>T		No	ClinGen ESP ExAC gnomAD
CA29186654 rs914413460	834	R>G		No	ClinGen TOPMed gnomAD
rs745828611 CA978010	834	R>K		No	ClinGen ExAC gnomAD
COSM1667766 CA341228148 rs1425932974 COSM1667765	837	W>*	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
COSM1667766 rs1257368915 CA341228145 COSM1667765	837	W>*	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA977996 rs767828054	842	Y>C		No	ClinGen ExAC gnomAD
rs761975073 CA977995	844	E>D		No	ClinGen ExAC gnomAD
rs1313191438 CA341228082	846	D>E		No	ClinGen gnomAD
CA341228086 rs1299943304	846	D>N		No	ClinGen TOPMed gnomAD
CA341228078 rs1247187274	847	E>*		No	ClinGen gnomAD

No associated diseases with Q9UKW4

3 regional properties for Q9UKW4

Type	Name	Position	InterPro Accession
domain	Interferon regulatory factor, DNA-binding domain	17 - 130	IPR001346
domain	Interferon regulatory factor-3	249 - 418	IPR019471
conserved_site	Interferon regulatory factor, conserved site	42 - 75	IPR019817

Functions

		Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
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.
immunological synapse	An area of close contact between a lymphocyte (T-, B-, or natural killer cell) and a target cell formed through the clustering of particular signaling and adhesion molecules and their associated membrane rafts on both the lymphocyte and the target cell and facilitating activation of the lymphocyte, transfer of membrane from the target cell to the lymphocyte, and in some situations killing of the target cell through release of secretory granules and/or death-pathway ligand-receptor interaction.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

4 GO annotations of molecular function

Name	Definition
epidermal growth factor receptor binding	Binding to an epidermal growth factor receptor.
GTPase activator activity	Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.
guanyl-nucleotide exchange factor activity	Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions.
metal ion binding	Binding to a metal ion.

19 GO annotations of biological process

Name	Definition
angiogenesis	Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.
B cell receptor signaling pathway	The series of molecular signals initiated by the cross-linking of an antigen receptor on a B cell.
cell migration	The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues.
DNA damage response	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 stimulus indicating damage to its DNA from environmental insults or errors during metabolism.
Fc-epsilon receptor signaling pathway	The series of molecular signals initiated by the binding of the Fc portion of immunoglobulin E (IgE) to an Fc-epsilon receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. The Fc portion of an immunoglobulin is its C-terminal constant region.
Fc-gamma receptor signaling pathway involved in phagocytosis	An Fc-gamma receptor signaling pathway that contributes to the endocytic engulfment of external particulate material by phagocytes.
integrin-mediated signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to an integrin on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
lamellipodium assembly	Formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell.
neutrophil chemotaxis	The directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding.
platelet activation	A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug.
positive regulation of B cell proliferation	Any process that activates or increases the rate or extent of B cell proliferation.
positive regulation of cell adhesion	Any process that activates or increases the frequency, rate or extent of cell adhesion.
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	Any process that activates or increases the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B.
regulation of cell size	Any process that modulates the size of a cell.
regulation of GTPase activity	Any process that modulates the rate of GTP hydrolysis by a GTPase.
regulation of small GTPase mediated signal transduction	Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.
response to xenobiotic stimulus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
small GTPase-mediated signal transduction	The series of molecular signals in which a small monomeric GTPase relays a signal.
vesicle fusion	Fusion of the membrane of a transport vesicle with its target membrane.

8 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9NHV9	Vav	Protein vav	Drosophila melanogaster (Fruit fly)	SS
P15498	VAV1	Proto-oncogene vav	Homo sapiens (Human)	EV SS
P52735	VAV2	Guanine nucleotide exchange factor VAV2	Homo sapiens (Human)	SS
P27870	Vav1	Proto-oncogene vav	Mus musculus (Mouse)	EV
Q60992	Vav2	Guanine nucleotide exchange factor VAV2	Mus musculus (Mouse)	SS
Q9R0C8	Vav3	Guanine nucleotide exchange factor VAV3	Mus musculus (Mouse)	SS
P54100	Vav1	Proto-oncogene vav	Rattus norvegicus (Rat)	SS
Q45FX5	vav-1	Protein vav-1	Caenorhabditis elegans	SS

10	20	30	40	50	60
MEPWKQCAQW	LIHCKVLPTN	HRVTWDSAQV	FDLAQTLRDG	VLLCQLLNNL	RAHSINLKEI
70	80	90	100	110	120
NLRPQMSQFL	CLKNIRTFLT	ACCETFGMRK	SELFEAFDLF	DVRDFGKVIE	TLSRLSRTPI
130	140	150	160	170	180
ALATGIRPFP	TEESINDEDI	YKGLPDLIDE	TLVEDEEDLY	DCVYGEDEGG	EVYEDLMKAE
190	200	210	220	230	240
EAHQPKCPEN	DIRSCCLAEI	KQTEEKYTET	LESIEKYFMA	PLKRFLTAAE	FDSVFINIPE
250	260	270	280	290	300
LVKLHRNLMQ	EIHDSIVNKN	DQNLYQVFIN	YKERLVIYGQ	YCSGVESAIS	SLDYISKTKE
310	320	330	340	350	360
DVKLKLEECS	KRANNGKFTL	RDLLVVPMQR	VLKYHLLLQE	LVKHTTDPTE	KANLKLALDA
370	380	390	400	410	420
MKDLAQYVNE	VKRDNETLRE	IKQFQLSIEN	LNQPVLLFGR	PQGDGEIRIT	TLDKHTKQER
430	440	450	460	470	480
HIFLFDLAVI	VCKRKGDNYE	MKEIIDLQQY	KIANNPTTDK	ENKKWSYGFY	LIHTQGQNGL
490	500	510	520	530	540
EFYCKTKDLK	KKWLEQFEMA	LSNIRPDYAD	SNFHDFKMHT	FTRVTSCKVC	QMLLRGTFYQ
550	560	570	580	590	600
GYLCFKCGAR	AHKECLGRVD	NCGRVNSGEQ	GTLKLPEKRT	NGLRRTPKQV	DPGLPKMQVI
610	620	630	640	650	660
RNYSGTPPPA	LHEGPPLQLQ	AGDTVELLKG	DAHSLFWQGR	NLASGEVGFF	PSDAVKPCPC
670	680	690	700	710	720
VPKPVDYSCQ	PWYAGAMERL	QAETELINRV	NSTYLVRHRT	KESGEYAISI	KYNNEAKHIK
730	740	750	760	770	780
ILTRDGFFHI	AENRKFKSLM	ELVEYYKHHS	LKEGFRTLDT	TLQFPYKEPE	HSAGQRGNRA
790	800	810	820	830	840
GNSLLSPKVL	GIAIARYDFC	ARDMRELSLL	KGDVVKIYTK	MSANGWWRGE	VNGRVGWFPS

TYVEEDE