AiPD: Autoinhibited Protein Database

Q8TF30

Gene name	WHAMM (KIAA1971, WHDC1)
Protein name	WASP homolog-associated protein with actin, membranes and microtubules
Names	WAS protein homology region 2 domain-containing protein 1, WH2 domain-containing protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:123720
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

441-641 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

441-641 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

2 structures for Q8TF30

Entry ID	Method	Resolution	Chain	Position	Source
5X1G	EM	450 A	C	513-546	PDB
AF-Q8TF30-F1	Predicted				AlphaFoldDB

751 variants for Q8TF30

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs2050659596 RCV001270231	245	P>L	Premature ovarian failure [ClinVar]	Yes	ClinVar dbSNP
CA7701378 rs770782158	3	D>E		No	ClinGen ExAC gnomAD
CA7701377 rs760542186	3	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1359358026 CA393314662	4	E>G		No	ClinGen TOPMed
CA7701379 rs776578702	4	E>K		No	ClinGen ExAC TOPMed gnomAD
rs776578702 CA393314655	4	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA393314669 rs1259758342	5	Q>K		No	ClinGen gnomAD
rs1464548306 CA393314681	6	P>S		No	ClinGen gnomAD
rs1194337086 CA393314692	7	D>G		No	ClinGen gnomAD
CA7701380 rs759497158	8	S>G		No	ClinGen ExAC gnomAD
CA393314702 rs1172538639	8	S>T		No	ClinGen TOPMed
CA393314722 rs1175123979	10	E>K		No	ClinGen TOPMed gnomAD
CA393314720 rs1175123979	10	E>Q		No	ClinGen TOPMed gnomAD
TCGA novel	11	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA273531012 rs1005091760	12	W>S		No	ClinGen TOPMed gnomAD
CA393314771 rs1364124404	14	P>A		No	ClinGen gnomAD
rs1455289861 CA393314774	14	P>L		No	ClinGen gnomAD
rs1455289861 CA393314773	14	P>R		No	ClinGen gnomAD
CA7701382 rs775032140	15	V>I		No	ClinGen ExAC gnomAD
rs1441051699 CA393314789	16	R>G		No	ClinGen TOPMed gnomAD
rs1441051699 CA393314791	16	R>W		No	ClinGen TOPMed gnomAD
rs1327300210 CA393314798	17	E>K		No	ClinGen TOPMed gnomAD
rs763784842 CA7701384	20	F>S		No	ClinGen ExAC TOPMed gnomAD
CA7701386 rs756921641	23	P>A		No	ClinGen ExAC TOPMed gnomAD
rs994927644 CA273531045	23	P>L		No	ClinGen TOPMed gnomAD
rs767823503 CA7701388	24	E>*		No	ClinGen ExAC TOPMed gnomAD
CA393314871 rs1329045760	24	E>G		No	ClinGen TOPMed gnomAD
CA393314864 rs767823503	24	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7701387 rs767823503	24	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs756583281 CA7701389	25	R>S		No	ClinGen ExAC gnomAD
CA393314876 rs1214452835	25	R>W		No	ClinGen gnomAD
CA393314896 rs1472896229	26	H>Q		No	ClinGen gnomAD
rs372706271 CA7701391	27	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7701390 rs780476146	27	R>W		No	ClinGen ExAC gnomAD
CA393314903 rs1305372770	28	L>M		No	ClinGen TOPMed
rs1156626966 CA393314956	33	A>V		No	ClinGen gnomAD
CA393314963 rs1461848054	34	W>*		No	ClinGen gnomAD
rs779054228 CA7701393 CA393314959	34	W>R		No	ClinGen ExAC gnomAD
rs1166506778 CA393314976	35	N>D		No	ClinGen gnomAD
rs1435322360 CA393314992	36	G>R		No	ClinGen TOPMed gnomAD
CA393314990 rs1435322360	36	G>S		No	ClinGen TOPMed gnomAD
CA393315002 rs1298447436	37	A>T		No	ClinGen gnomAD
CA393315014 rs1375067446	38	E>*		No	ClinGen gnomAD
rs1311824657 CA393315111	44	T>I		No	ClinGen TOPMed
CA393315114 rs1286825990	45	C>S		No	ClinGen gnomAD
CA7701398 rs375686831 CA393315137	46	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs776525483 CA7701396	46	H>R		No	ClinGen ExAC gnomAD
CA7701395 rs772443165	46	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA393315147 rs1159214489	47	D>E		No	ClinGen TOPMed
CA393315140 rs1319945554	47	D>N		No	ClinGen gnomAD
rs775343765 CA7701399	48	R>C		No	ClinGen ExAC gnomAD
CA393315159 rs1453022512	48	R>L		No	ClinGen TOPMed
rs763458110 CA7701402	50	A>P		No	ClinGen ExAC TOPMed gnomAD
rs763458110 CA7701401	50	A>T		No	ClinGen ExAC TOPMed gnomAD
CA273531178 rs970415592	52	Q>*		No	ClinGen TOPMed
rs1407548016 CA393315223	53	R>Q		No	ClinGen TOPMed gnomAD
rs750765805 CA7701406	54	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs551953623 CA7701409	57	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756530135 CA7701407	57	E>K		No	ClinGen ExAC
rs1259482739 CA393315274	58	G>R		No	ClinGen TOPMed
CA14123107 rs1247444112	59	A>V		No	ClinGen TOPMed
CA393315299 rs1170496711	60	R>G		No	ClinGen TOPMed gnomAD
CA393315303 rs1412491272	60	R>P		No	ClinGen TOPMed
rs1412491272 CA393315301	60	R>Q		No	ClinGen TOPMed
CA393315297 rs1170496711	60	R>W		No	ClinGen TOPMed gnomAD
CA393315316 rs1350521063	61	L>W		No	ClinGen gnomAD
rs755522670 CA7701414	63	P>S		No	ClinGen ExAC gnomAD
CA393315348 rs1474375677	64	E>K		No	ClinGen TOPMed
TCGA novel	66	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1596274323 CA393315408	68	K>E		No	ClinGen Ensembl
CA393315416 rs1415956423	68	K>T		No	ClinGen gnomAD
CA393315425 rs1194072050	69	P>A		No	ClinGen TOPMed
CA7701419 rs201191404	69	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	69	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372793888 CA7701420	71	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7701421 rs769540526	72	A>T		No	ClinGen ExAC gnomAD
TCGA novel	73	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749134987 CA7701423	74	S>F		No	ClinGen ExAC gnomAD
rs1212748317 CA393315503	75	P>Q		No	ClinGen gnomAD
rs1212748317 CA393315505	75	P>R		No	ClinGen gnomAD
rs1272993986 CA393315526	77	S>C		No	ClinGen TOPMed
CA393315561 rs1472413881	79	A>D		No	ClinGen gnomAD
rs11556470 CA273531383	79	A>S		No	ClinGen Ensembl
CA7701429 rs760380338	84	A>V		No	ClinGen ExAC gnomAD
rs1324116705 CA393315633	85	A>G		No	ClinGen TOPMed
CA393315631 rs1375668941	85	A>S		No	ClinGen gnomAD
rs1435806095 CA393315640	86	G>A		No	ClinGen TOPMed gnomAD
rs1435806095 CA393315639	86	G>E		No	ClinGen TOPMed gnomAD
CA393315638 rs1435806095	86	G>V		No	ClinGen TOPMed gnomAD
rs1289526565 CA393315670	91	H>P		No	ClinGen TOPMed gnomAD
rs1364096710 CA393315671	91	H>Q		No	ClinGen gnomAD
CA7701430 rs766593608	92	R>Q		No	ClinGen ExAC gnomAD
CA393315678 rs1466984664	93	Q>E		No	ClinGen TOPMed
CA393315686 rs1402730158	93	Q>L		No	ClinGen TOPMed
CA393315713 rs1297225532	95	A>V		No	ClinGen gnomAD
rs1348835157 CA393315755	98	W>*		No	ClinGen gnomAD
rs1168649949 CA393315772	99	P>L		No	ClinGen TOPMed
CA393315759 rs1188014858	99	P>T		No	ClinGen gnomAD
rs1475138616 CA393315778	100	P>S		No	ClinGen TOPMed
rs940663361 CA273531414	105	F>L		No	ClinGen TOPMed gnomAD
rs1455124105 CA393315866	106	P>L		No	ClinGen TOPMed
rs1252908414 CA393315867	107	R>G		No	ClinGen TOPMed
rs1276186328 CA393315935	110	P>L		No	ClinGen gnomAD
rs1596274428 CA393315924	110	P>S		No	ClinGen Ensembl
rs995077046 CA273531447	111	E>Q		No	ClinGen TOPMed gnomAD
rs1055947919 CA273531474	112	L>P		No	ClinGen TOPMed gnomAD
rs1055947919 CA273531463	112	L>R		No	ClinGen TOPMed gnomAD
CA393316002 rs1011989724	113	D>E		No	ClinGen TOPMed gnomAD
CA393316006 rs1370237016 CA393316008	114	V>L		No	ClinGen TOPMed
CA273531489 rs1025110050	116	G>S		No	ClinGen TOPMed
CA393316085 rs1329828427	118	G>E		No	ClinGen TOPMed
rs970467770 CA273531506	119	A>T		No	ClinGen TOPMed
CA393316114 rs1463209335	120	W>R		No	ClinGen gnomAD
rs1187389367 CA393316182	124	L>I		No	ClinGen gnomAD
rs999166364 CA273531522	125	G>R		No	ClinGen TOPMed gnomAD
rs999166364 CA273531538	125	G>W		No	ClinGen TOPMed gnomAD
rs1395013129 CA393316271	127	W>R		No	ClinGen TOPMed
CA393316291 rs1174707574	128	A>T		No	ClinGen TOPMed gnomAD
CA273531540 rs957929021	131	W>C		No	ClinGen TOPMed gnomAD
rs1423413179 CA393316320	131	W>R		No	ClinGen gnomAD
CA393316345 rs1160543170	132	P>L		No	ClinGen gnomAD
CA393316357 rs1313924088	133	T>M		No	ClinGen TOPMed gnomAD
rs1596274483 CA393316362	134	R>C		No	ClinGen Ensembl
CA393316372 rs1319947331	135	A>E		No	ClinGen TOPMed gnomAD
CA393316371 rs1280288066	135	A>S		No	ClinGen TOPMed
CA393316375 rs1319947331	135	A>V		No	ClinGen TOPMed gnomAD
rs953370780 CA273531573	136	G>C		No	ClinGen TOPMed
CA393316379 rs1242178173	136	G>D		No	ClinGen TOPMed
rs1278787020 CA393316393	137	P>S		No	ClinGen TOPMed
rs987332112 CA273531583	139	E>*		No	ClinGen TOPMed gnomAD
CA393316426 rs1343044967	139	E>G		No	ClinGen TOPMed gnomAD
CA393316451 rs1443330840	140	A>G		No	ClinGen TOPMed gnomAD
rs1343963229 CA393316476	142	L>V		No	ClinGen gnomAD
rs1286344749 CA393316536	145	L>V		No	ClinGen TOPMed gnomAD
rs1326961430 CA393316553	146	C>R		No	ClinGen gnomAD
CA393316593 rs1206700501	147	G>E		No	ClinGen TOPMed gnomAD
TCGA novel	150	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393316647 rs1469536066	151	R>S		No	ClinGen gnomAD
rs1245754790 CA393316671	152	Y>C		No	ClinGen gnomAD
CA393316669 rs1245754790	152	Y>S		No	ClinGen gnomAD
CA393316720 rs1456066342	155	A>E		No	ClinGen gnomAD
CA393316705 rs1414900512	155	A>T		No	ClinGen gnomAD
rs1158562725 CA393316743	157	A>T		No	ClinGen TOPMed gnomAD
CA7701434 rs765884234	158	D>N		No	ClinGen ExAC TOPMed gnomAD
rs758606230 CA7701436	159	G>D		No	ClinGen ExAC gnomAD
rs1555412819 CA393316798	160	C>*		No	ClinGen Ensembl
rs1442714636 CA393316834	162	G>A		No	ClinGen gnomAD
rs1036305916 CA273531646	162	G>S		No	ClinGen TOPMed
rs1348586064 CA393316875	164	T>I		No	ClinGen TOPMed gnomAD
CA393316872 rs1348586064	164	T>R		No	ClinGen TOPMed gnomAD
CA393316883 rs1390391779	165	V>M		No	ClinGen gnomAD
rs1358131755 CA393316898	166	R>H		No	ClinGen TOPMed
rs1450886889 CA393316891	166	R>S		No	ClinGen gnomAD
CA393316922 rs1234091597	167	D>E		No	ClinGen TOPMed
CA393316926 rs1336382996	168	A>T		No	ClinGen gnomAD
CA393316982 rs930905345	170	F>L		No	ClinGen TOPMed gnomAD
rs757526203 CA7701439	171	P>L		No	ClinGen ExAC TOPMed gnomAD
rs757526203 CA393316990	171	P>R		No	ClinGen ExAC TOPMed gnomAD
rs751761714 CA7701438	171	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1254369074 CA393317014	173	E>D		No	ClinGen gnomAD
rs1415189568 CA393317033	175	G>A		No	ClinGen TOPMed
rs894734669 CA273531696	175	G>C		No	ClinGen TOPMed gnomAD
CA393317046 rs1473857153	176	A>V		No	ClinGen gnomAD
rs1161507120 CA393317053	177	A>T		No	ClinGen gnomAD
rs1390356321 CA393317068	178	D>E		No	ClinGen gnomAD
CA393317085 rs1596274630	180	E>K		No	ClinGen Ensembl
CA7701442 rs768459153	182	P>A		No	ClinGen ExAC TOPMed gnomAD
CA393317119 rs768459153	182	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1408976253 CA393317150	184	E>D		No	ClinGen gnomAD
CA393317158 rs1366213903	185	F>V		No	ClinGen gnomAD
CA393317170 rs1293904752	186	R>W		No	ClinGen gnomAD
rs1045917262 CA273531730	188	R>L		No	ClinGen TOPMed gnomAD
rs1045917262 CA393317194	188	R>P		No	ClinGen TOPMed gnomAD
rs778881520 CA393317198	189	A>D		No	ClinGen ExAC TOPMed gnomAD
CA7701444 rs778881520	189	A>G		No	ClinGen ExAC TOPMed gnomAD
CA7701443 rs778881520	189	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1339697705 CA393317204	190	L>F		No	ClinGen TOPMed gnomAD
CA393317208 rs1197115176	191	R>C		No	ClinGen gnomAD
rs999306695 CA393317209	191	R>H		No	ClinGen TOPMed gnomAD
CA273531741 rs999306695	191	R>P		No	ClinGen TOPMed gnomAD
CA7701445 rs771504244	192	A>P		No	ClinGen ExAC TOPMed gnomAD
CA393317220 rs1204890448	193	R>P		No	ClinGen gnomAD
rs772721482 CA7701446	194	W>L		No	ClinGen ExAC gnomAD
rs1258880133 CA393317222	194	W>R		No	ClinGen gnomAD
rs1030655101 CA273531760	195	V>A		No	ClinGen TOPMed gnomAD
CA7701448 rs770646642	197	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1170777972 CA393317280	198	D>E		No	ClinGen gnomAD
rs776828818 CA273531820	199	A>G		No	ClinGen ExAC TOPMed gnomAD
rs776828818 CA7701449	199	A>V		No	ClinGen ExAC TOPMed gnomAD
CA393317304 rs1428914123	201	L>V		No	ClinGen gnomAD
rs1428619365 CA393317327	203	Q>P		No	ClinGen TOPMed
rs76374995 CA7701458	205	I>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7701460 rs778685129	209	G>R		No	ClinGen ExAC TOPMed gnomAD
CA7701462 VAR_061721 rs35270670	212	N>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs577139349 CA7701463	213	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7701464 rs746567530	214	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1231518265 CA393296601	216	A>T		No	ClinGen gnomAD
TCGA novel	218	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7701466 rs770466478	218	M>V		No	ClinGen ExAC gnomAD
CA393296729 rs1266272829	220	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA393296782 rs1221809575	222	Q>E		No	ClinGen TOPMed
CA393296854 rs1194442664	223	E>G		No	ClinGen gnomAD
CA393296831 rs1432061555	223	E>K		No	ClinGen TOPMed gnomAD
CA273487785 rs922630157	224	E>G		No	ClinGen TOPMed
CA393296923 rs1197866789	225	D>E		No	ClinGen gnomAD
rs776006806 CA273487802	225	D>G		No	ClinGen ExAC gnomAD
rs776006806 CA7701470	225	D>V		No	ClinGen ExAC gnomAD
CA7701471 rs763518255	227	A>V		No	ClinGen ExAC gnomAD
rs1458707340 CA393296996	228	Y>*		No	ClinGen gnomAD
rs1156362001 CA393297027	229	Q>*		No	ClinGen gnomAD
CA7701472 rs764742690	229	Q>L		No	ClinGen ExAC gnomAD
CA393297128 rs1336629668	232	V>F		No	ClinGen TOPMed
TCGA novel	234	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7701475 rs190194464	234	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA393297239 rs1385499979	235	A>E		No	ClinGen gnomAD
CA393297256 rs1351680009	236	T>A		No	ClinGen gnomAD
CA393297253 rs1351680009	236	T>P		No	ClinGen gnomAD
CA393297316 rs1389791189	237	M>I		No	ClinGen TOPMed gnomAD
CA393297301 rs1566991038	237	M>R		No	ClinGen Ensembl
rs1230704970 CA393297288	237	M>V		No	ClinGen gnomAD
rs750594932 CA7701476	239	F>L		No	ClinGen ExAC gnomAD
rs372163888 CA7701477	240	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA393297485 rs764963210	241	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA393297538 rs1468602015	243	L>S		No	ClinGen TOPMed
rs941499991 CA273487839	245	P>T		No	ClinGen TOPMed
rs375335167 CA7701481	246	F>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs777814679 CA7701482	246	F>L		No	ClinGen ExAC TOPMed gnomAD
CA7701483 rs552944769	249	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756854838 CA7701484	250	R>*		No	ClinGen ExAC gnomAD
CA273487860 rs756914074	250	R>Q		No	ClinGen TOPMed
CA7701486 rs780627143	252	V>A		No	ClinGen ExAC TOPMed gnomAD
CA7701485 rs780569897	252	V>L		No	ClinGen ExAC gnomAD
rs905594453 CA393297861	253	A>E		No	ClinGen TOPMed gnomAD
CA393297858 rs1223288109	253	A>S		No	ClinGen TOPMed
rs905594453 CA273487890	253	A>V		No	ClinGen TOPMed gnomAD
rs769604866 CA7701487	254	T>I		No	ClinGen ExAC TOPMed gnomAD
CA7701488 rs775968039	255	L>S		No	ClinGen ExAC TOPMed gnomAD
rs1335078629 CA393297939	256	C>W		No	ClinGen TOPMed
rs1287079918 CA393297994	259	D>V		No	ClinGen gnomAD
CA393298026 rs1319374520	260	I>T		No	ClinGen TOPMed
rs201736265 CA7701489	260	I>V		No	ClinGen ESP TOPMed
rs1350377752 CA393298421	261	L>F		No	ClinGen gnomAD
rs1344569796 CA393299841	262	K>E		No	ClinGen gnomAD
CA393299854 rs1024870944	263	S>A		No	ClinGen TOPMed gnomAD
CA273488768 rs1024870944	263	S>P		No	ClinGen TOPMed gnomAD
CA7701506 rs757152458	265	D>E		No	ClinGen ExAC TOPMed gnomAD
CA393299884 rs1212090819	265	D>G		No	ClinGen TOPMed gnomAD
rs1482665692 CA393299893	266	E>Q		No	ClinGen gnomAD
rs1400273965 CA393299918	267	D>Y		No	ClinGen TOPMed
rs866163668 CA273488770	269	L>I		No	ClinGen gnomAD
CA393300000 rs1382956445	271	P>S		No	ClinGen TOPMed
TCGA novel	272	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393300019 rs1349531107	272	R>T		No	ClinGen gnomAD
CA393300042 rs1447221446	273	R>K		No	ClinGen TOPMed gnomAD
CA7701507 rs780701220	276	A>S		No	ClinGen ExAC TOPMed gnomAD
rs780701220 CA393300122	276	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7701508 rs745413775	276	A>V		No	ClinGen ExAC gnomAD
rs755809259 CA7701509	277	L>P		No	ClinGen ExAC gnomAD
CA7701511 rs749669732	278	E>G		No	ClinGen ExAC TOPMed gnomAD
CA7701512 rs180743841	280	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1433120302 CA393300241	282	E>K		No	ClinGen gnomAD
CA7701515 rs772488880	284	W>*		No	ClinGen ExAC TOPMed gnomAD
rs1220708071 CA393300324	285	T>A		No	ClinGen gnomAD
CA7701516 rs773309744	286	R>T		No	ClinGen ExAC gnomAD
rs1463290529 CA393300371	287	R>Q		No	ClinGen TOPMed gnomAD
CA7701518 rs771128163	287	R>W		No	ClinGen ExAC gnomAD
rs1291468894 CA393300394	288	A>D		No	ClinGen TOPMed
rs1187483491 CA393300402	289	E>K		No	ClinGen gnomAD
CA393300465 rs1478601443	291	A>D		No	ClinGen gnomAD
CA393300476 rs1566992605	292	V>L		No	ClinGen Ensembl
CA393300491 rs759754427	293	V>F		No	ClinGen ExAC TOPMed gnomAD
CA7701520 rs759754427	293	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7701521 rs540684855	295	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	298	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393300614 rs1220326725	299	T>I		No	ClinGen TOPMed
rs560377034 CA7701522	300	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761782440 CA7701523	303	F>I		No	ClinGen ExAC TOPMed gnomAD
rs1320191376 CA393300734	305	E>V		No	ClinGen gnomAD
CA7701524 rs376462838	306	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA273488830 rs376462838	306	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	307	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393300754 rs1272800048	307	V>I		No	ClinGen gnomAD
CA393300755 rs1272800048	307	V>L		No	ClinGen gnomAD
rs1596279465 CA393300798	309	A>T		No	ClinGen Ensembl
rs185190490 CA7701526	310	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393300990 rs1284209017	313	M>T		No	ClinGen gnomAD
CA393301006 rs1272005365	314	Q>*		No	ClinGen TOPMed
rs1288673880 CA393301114	320	D>G		No	ClinGen gnomAD
rs1226212388 CA393301111	320	D>N		No	ClinGen gnomAD
CA393301122 rs17400964	321	A>E		No	ClinGen ExAC gnomAD
CA7701536 rs17400964	321	A>V		No	ClinGen ExAC gnomAD
rs1254662267 CA393301143	324	F>S		No	ClinGen gnomAD
rs1340259657 CA393301168	328	A>P		No	ClinGen TOPMed
CA393301167 rs1340259657	328	A>T		No	ClinGen TOPMed
CA273489161 rs889047366	329	W>R		No	ClinGen TOPMed
rs1596280273 CA393301191	331	T>I		No	ClinGen Ensembl
rs368992874 CA7701538	333	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776701599 CA7701539	334	P>L		No	ClinGen ExAC TOPMed gnomAD
CA393301210 rs1369088139	335	R>G		No	ClinGen gnomAD
rs1336787161 CA393301213	335	R>T		No	ClinGen TOPMed
rs1473908968 CA393301235	338	K>T		No	ClinGen gnomAD
TCGA novel	339	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs994023152 CA273489171	339	L>P		No	ClinGen TOPMed
rs1055666 CA7701540	340	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1055666 CA273489175 VAR_033209	340	Q>K		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA393301248 rs1384805790	340	Q>R		No	ClinGen gnomAD
rs1430236233 CA393301254	341	L>P		No	ClinGen gnomAD
CA7701541 rs769936762	342	M>R		No	ClinGen ExAC gnomAD
rs769936762 CA7701542	342	M>T		No	ClinGen ExAC gnomAD
rs1170189381 CA393301257	342	M>V		No	ClinGen gnomAD
rs761574346 CA7701543	343	L>V		No	ClinGen ExAC TOPMed gnomAD
rs767489474 CA7701544	344	A>T		No	ClinGen ExAC gnomAD
rs750323619 CA7701545	345	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA273489200 rs750323619	345	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1055667 VAR_033210 CA273489204	345	R>Q		No	ClinGen UniProt TOPMed dbSNP gnomAD
TCGA novel	346	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1566993187 CA393301284	347	T>S		No	ClinGen Ensembl
rs760702411 CA7701547	348	L>V		No	ClinGen ExAC gnomAD
rs1470457653 CA393301301	350	L>I		No	ClinGen TOPMed
rs543102817 CA273489216	351	M>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA393301307 rs543102817	351	M>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs1277130551 CA393301318	352	R>K		No	ClinGen gnomAD
rs1486501463 CA393301319	352	R>S		No	ClinGen TOPMed
rs527851060 CA7701549	353	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA393301327 rs1276575656	354	K>E		No	ClinGen TOPMed
rs1185496290 CA393301380	357	C>Y		No	ClinGen gnomAD
TCGA novel	360	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753090876 CA7701552	361	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1388040279 CA393301466	363	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	364	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1461277762 CA393301477	364	E>K		No	ClinGen gnomAD
rs1173130833 CA393301508	366	Q>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	367	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1412316647 CA393301544	368	K>R		No	ClinGen gnomAD
CA393301609 rs1246393496	369	M>T		No	ClinGen gnomAD
CA393301627 rs1427773690	370	E>G		No	ClinGen gnomAD
CA7701557 rs781205230	371	D>N		No	ClinGen ExAC gnomAD
CA393301650 rs1435138537	372	L>I		No	ClinGen TOPMed
rs1043205359 CA273489495	373	P>T		No	ClinGen TOPMed gnomAD
rs34040560 CA273489499	374	E>D		No	ClinGen Ensembl
CA393301691 rs1476962067	375	Q>*		No	ClinGen gnomAD
CA393301694 rs1462822919	375	Q>P		No	ClinGen TOPMed
CA393301734 rs1350249191	378	N>D		No	ClinGen TOPMed
CA393301749 rs1566993813	379	T>A		No	ClinGen Ensembl
CA393301756 rs1175125006	379	T>I		No	ClinGen TOPMed gnomAD
CA393301763 rs1388660062	380	N>D		No	ClinGen gnomAD
rs1318172868 CA393301782	381	V>A		No	ClinGen gnomAD
CA393301778 rs1445640751	381	V>I		No	ClinGen gnomAD
rs1383781192 CA393301790	382	V>L		No	ClinGen gnomAD
TCGA novel	384	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	387	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1566993862 CA393301877	388	Q>K		No	ClinGen Ensembl
CA393301881 rs1404966334	388	Q>P		No	ClinGen TOPMed
CA273489500 rs889913644	393	Q>E		No	ClinGen TOPMed
rs1190631346 CA393301940	393	Q>R		No	ClinGen TOPMed
CA716283436 rs1187157889	397	Y>*		No	ClinGen TOPMed
rs1247970568 CA393301983	397	Y>H		No	ClinGen TOPMed
rs1283410629 CA393302065	400	K>N		No	ClinGen TOPMed gnomAD
CA273489506 rs1017742708	403	I>L		No	ClinGen TOPMed
CA273489514 rs376519807	403	I>T		No	ClinGen Ensembl
rs1333367112 CA393302176	405	K>R		No	ClinGen gnomAD
rs563056953 CA393302209	406	N>K		No	ClinGen 1000Genomes TOPMed gnomAD
CA393302308 rs1228513744	410	L>M		No	ClinGen TOPMed
CA7701559 rs770045554	410	L>R		No	ClinGen ExAC gnomAD
CA393302357 rs997572327	412	T>I		No	ClinGen TOPMed gnomAD
rs997572327 CA273489520 COSM1237224	412	T>S	parathyroid [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA7701560 rs775646211	414	Q>E		No	ClinGen ExAC gnomAD
CA7701561 rs749533003	414	Q>P		No	ClinGen ExAC gnomAD
CA393302451 rs1247779933	417	S>T		No	ClinGen gnomAD
CA393302495 rs1431389886	419	K>E		No	ClinGen gnomAD
TCGA novel	420	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393302526 rs1596281282	420	R>K		No	ClinGen Ensembl
TCGA novel	420	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393302553 rs1412579580	422	I>T		No	ClinGen gnomAD
rs752223805 CA7701572	427	D>G		No	ClinGen ExAC gnomAD
rs375268779 CA7701573	428	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA393303940 rs375268779	428	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	429	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1198965890 CA393303955	429	V>I		No	ClinGen TOPMed
CA7701574 rs764388785	431	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA393304015 rs746998593 COSM3420668	432	Y>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA393304002 rs1249155736	432	Y>H		No	ClinGen gnomAD
rs1366349548 CA393304034	433	D>E		No	ClinGen gnomAD
rs369333852 CA7701576	433	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs369333852 CA7701577	433	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA393304064 rs1423196207	435	C>F		No	ClinGen TOPMed gnomAD
TCGA novel	435	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs893915186 CA273490511	437	N>I		No	ClinGen TOPMed
CA393304142 rs1163273750	440	E>K		No	ClinGen gnomAD
CA393304163 rs1371717959	441	L>F		No	ClinGen gnomAD
rs548968156 CA7701579	443	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs548968156 CA393304197	443	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7701578 rs745958082	443	V>I		No	ClinGen ExAC gnomAD
TCGA novel	443	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA273490521 rs749422986	446	C>F		No	ClinGen ExAC TOPMed gnomAD
CA393304248 rs749422986	446	C>S		No	ClinGen ExAC TOPMed gnomAD
CA7701582 rs749422986	446	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs770976533 CA7701587	452	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1483329888 CA393304318	453	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	453	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776497350 CA7701588	455	N>H		No	ClinGen ExAC TOPMed gnomAD
rs891617852 TCGA novel CA273490532	456	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
CA393304340 rs1240902988	456	L>S		No	ClinGen gnomAD
rs1359258569 CA393304375	461	L>F		No	ClinGen TOPMed
CA393304419 rs1431991770	467	Q>*		No	ClinGen gnomAD
rs759520524 CA7701589	468	L>R		No	ClinGen ExAC gnomAD
CA7701591 rs775085129	470	S>A		No	ClinGen ExAC
rs762550826 CA7701592	472	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7701593 rs763774688	472	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs762550826 CA393304450	472	R>W		No	ClinGen ExAC TOPMed gnomAD
CA7701595 rs762236027	476	C>F		No	ClinGen ExAC gnomAD
rs1019214708 CA273490543	476	C>S		No	ClinGen TOPMed
TCGA novel	477	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393304486 rs1566995686	478	K>E		No	ClinGen Ensembl
CA7701596 rs767877077	478	K>R		No	ClinGen ExAC gnomAD
rs750842386 CA7701597	479	R>I		No	ClinGen ExAC gnomAD
rs1272276869 CA393304505	481	S>A		No	ClinGen gnomAD
rs1237850589 CA393304511	482	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs779958716 CA7701599	483	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs377327374 CA7701598	483	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753992111 CA7701600	484	S>R		No	ClinGen ExAC gnomAD
rs752908173 CA7701621	487	D>N		No	ClinGen ExAC gnomAD
TCGA novel	488	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7701623 rs371826949	489	C>R		No	ClinGen ESP ExAC gnomAD
CA273491547 rs375485788	490	K>E		No	ClinGen ESP TOPMed gnomAD
CA7701624 rs745713007	491	E>A		No	ClinGen ExAC gnomAD
rs769594107 CA7701625	492	N>D		No	ClinGen ExAC TOPMed gnomAD
CA393305279 rs769594107	492	N>H		No	ClinGen ExAC TOPMed gnomAD
CA393305318 rs746536863	494	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7701627 rs746536863	494	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs777215796 CA7701626	494	R>W		No	ClinGen ExAC TOPMed gnomAD
CA7701628 rs768100137	495	F>Y		No	ClinGen ExAC gnomAD
CA7701632 rs199867688	501	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA7701633 rs113378787	504	I>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1322772716 CA393305480	504	I>L		No	ClinGen gnomAD
CA393305481 rs1322772716	504	I>V		No	ClinGen gnomAD
CA393305490 rs1267397945	505	R>G		No	ClinGen gnomAD
CA7701634 rs766789725	505	R>T		No	ClinGen ExAC TOPMed gnomAD
rs1183028931 CA619009088	506	Y>*		No	ClinGen gnomAD
rs777210128 CA7701635	508	R>C		No	ClinGen ExAC TOPMed gnomAD
CA393305542 rs777210128	508	R>G		No	ClinGen ExAC TOPMed gnomAD
CA273491608 rs371348951	508	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA7701636 rs371348951	508	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7701637 rs371348951	508	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1158250210 CA393305571	510	H>Y		No	ClinGen gnomAD
CA393305599 rs1414794068	512	S>G		No	ClinGen gnomAD
rs1426378797 CA393305618	513	I>V		No	ClinGen gnomAD
CA393305640 rs1161372462	514	Q>R		No	ClinGen gnomAD
CA7701639 rs375826719	515	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs558677733 CA393305757 CA7701655	518	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393305749 rs1455635653	518	D>N		No	ClinGen TOPMed
CA273491704 rs940248969	520	I>T		No	ClinGen TOPMed
CA393305816 rs1382549694	522	E>K		No	ClinGen gnomAD
rs147529123 CA7701657	523	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368856304 CA393305854	524	E>A		No	ClinGen gnomAD
CA273491711 rs368856304	524	E>G		No	ClinGen gnomAD
CA393305900 rs1195302138	526	K>R		No	ClinGen gnomAD
CA273491715 rs1002347924	531	I>F		No	ClinGen TOPMed gnomAD
CA393306066 rs1194997498	531	I>N		No	ClinGen gnomAD
rs376930709 CA273491717	533	Q>*		No	ClinGen ESP TOPMed
CA273491721 rs1055449556	534	E>Q		No	ClinGen TOPMed gnomAD
CA393306172 rs1475020628	535	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs534949478 CA7701659	535	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1210910579 CA393306205	537	K>E		No	ClinGen TOPMed
rs1407725623 CA393306234	538	T>I		No	ClinGen TOPMed gnomAD
rs894256315 CA273491740	541	R>*		No	ClinGen TOPMed
CA393306278 rs1335750243 COSM286532	541	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1383140127 CA393306321	544	S>P		No	ClinGen gnomAD
rs1383140127 CA393306319	544	S>T		No	ClinGen gnomAD
rs1320611902 CA393306337	545	F>L		No	ClinGen gnomAD
CA393306385 rs1221752575	547	D>G		No	ClinGen gnomAD
rs1325838489 CA393306376	547	D>N		No	ClinGen gnomAD
rs142422388 CA7701671	549	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7701672 rs202123845	549	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA7701674 rs746280641	550	L>V		No	ClinGen ExAC gnomAD
CA393308247 rs1305199982	553	S>F		No	ClinGen gnomAD
rs1240192656 CA393308260	554	V>A		No	ClinGen gnomAD
CA393308254 rs1239412693	554	V>F		No	ClinGen TOPMed
rs770408193 CA7701675	555	R>*		No	ClinGen ExAC gnomAD
rs776203471 CA7701676	555	R>Q		No	ClinGen ExAC gnomAD
CA393308339 rs1401168020	557	T>A		No	ClinGen TOPMed
CA393308342 rs1401168020	557	T>P		No	ClinGen TOPMed
rs376612448 CA273493373 COSM965773	558	S>C	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
CA7701679 rs774330356	558	S>P		No	ClinGen ExAC gnomAD
rs767776490 CA7701681	560	S>*		No	ClinGen ExAC gnomAD
rs762068646 CA7701680	560	S>P		No	ClinGen ExAC gnomAD
rs571137233 CA7701682	562	P>H		No	ClinGen 1000Genomes ExAC gnomAD
CA7701683 rs533737183	563	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393308538 rs1464703371	565	P>R		No	ClinGen TOPMed
CA393308542 rs1184617067	566	N>H		No	ClinGen gnomAD
CA393308587 rs1159314068	568	P>T		No	ClinGen TOPMed
CA7701684 rs765023264	569	S>N		No	ClinGen ExAC gnomAD
rs1292659616 CA393308646	570	D>Y		No	ClinGen TOPMed gnomAD
CA393308732 rs1423099258	573	Q>*		No	ClinGen gnomAD
rs1379006113 CA393308739	573	Q>R		No	ClinGen TOPMed
CA273493403 rs950758328	574	Q>H		No	ClinGen TOPMed
CA273493414 rs933307696	575	M>I		No	ClinGen Ensembl
rs752620554 CA7701685	575	M>T		No	ClinGen ExAC gnomAD
TCGA novel	575	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1355609600 CA393308838	576	C>F		No	ClinGen gnomAD
rs1566998855 CA393308880	578	P>S		No	ClinGen Ensembl
TCGA novel	578	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7701687 rs777294199	580	S>F		No	ClinGen ExAC TOPMed gnomAD
rs368773640 CA7701689	581	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	581	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7701690 rs375024672	582	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7701691 rs146422343	582	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1201863846 CA393309048	585	V>G		No	ClinGen TOPMed gnomAD
CA273493441 rs1043211899	585	V>L		No	ClinGen Ensembl
CA7701693 rs780589835	586	I>V		No	ClinGen ExAC gnomAD
CA393309073 rs1596288941	587	H>P		No	ClinGen Ensembl
rs139061517 RCV000954747 CA7701694	588	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs139061517 CA393309096	588	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139061517 CA7701695	588	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA393309154 rs1240883127	590	S>F		No	ClinGen gnomAD
rs761860635 CA7701697	594	R>G		No	ClinGen ExAC gnomAD
rs772280898 CA7701698	595	G>D		No	ClinGen ExAC TOPMed gnomAD
CA7701699 rs773358687	596	V>I		No	ClinGen ExAC gnomAD
TCGA novel	597	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200208288 CA7701702	599	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA393309383 rs1165551675	601	A>G		No	ClinGen TOPMed
rs763987009 CA7701704	601	A>P		No	ClinGen ExAC TOPMed gnomAD
rs1458864275 CA393309400	602	G>C		No	ClinGen TOPMed
CA273493504 rs1024621710	606	S>N		No	ClinGen Ensembl
rs1289191235 CA393309522	608	K>*		No	ClinGen gnomAD
TCGA novel	608	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1364017235 CA393309525	608	K>R		No	ClinGen gnomAD
CA393309590 rs1185889922	610	Q>E		No	ClinGen TOPMed
CA393309593 rs1212790809	610	Q>P		No	ClinGen gnomAD
CA7701705 rs751067153	613	H>Y		No	ClinGen ExAC gnomAD
rs1596289011 CA393309707	615	N>H		No	ClinGen Ensembl
CA7701706 rs372538979	616	I>V		No	ClinGen ESP ExAC gnomAD
CA7701707 rs370036421	617	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1460546047 CA393309780	618	V>I		No	ClinGen gnomAD
rs1460546047 CA393309783	618	V>L		No	ClinGen gnomAD
rs1192425296 CA393309820	619	Q>R		No	ClinGen TOPMed
CA393309835 rs1209891319	620	V>F		No	ClinGen gnomAD
TCGA novel	621	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750049728 CA7701708	622	V>I		No	ClinGen ExAC gnomAD
rs1185327540 CA393309910	623	P>A		No	ClinGen gnomAD
CA7701711 rs749664072	625	G>R		No	ClinGen ExAC gnomAD
CA393310049 rs1268797389	629	H>R		No	ClinGen TOPMed
CA273493592 rs555445830	630	S>C		No	ClinGen 1000Genomes
rs769196684 CA393310092	631	K>R		No	ClinGen ExAC TOPMed gnomAD
rs769196684 CA7701713	631	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1160074473 CA393310114	632	S>Y		No	ClinGen TOPMed gnomAD
CA393310121 rs1263543640 COSM3944288	633	S>N	ovary [Cosmic]	No	ClinGen cosmic curated TOPMed
rs373866868 CA7701714	635	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1318283147 CA393310200	637	S>L		No	ClinGen TOPMed
rs1279103912 CA393310233	640	P>T		No	ClinGen TOPMed
CA393310262 rs1322425008	641	P>R		No	ClinGen gnomAD
TCGA novel	642	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393310282 rs1285877202	642	P>L		No	ClinGen TOPMed gnomAD
CA7701722 rs771179228	643	P>L		No	ClinGen ExAC gnomAD
CA393310285 rs1319175398	643	P>S		No	ClinGen gnomAD
TCGA novel	644	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1566999123 CA393310288	644	P>T		No	ClinGen Ensembl
rs903804731 CA273493612	645	P>L		No	ClinGen TOPMed
rs1490645432 CA393310330	646	P>L		No	ClinGen TOPMed gnomAD
CA393310332 rs1490645432	646	P>Q		No	ClinGen TOPMed gnomAD
CA273493628 rs866573844	647	P>L		No	ClinGen Ensembl
CA7701729 rs764087976	647	P>T		No	ClinGen ExAC
rs774087548 CA7701732	648	P>Q		No	ClinGen ExAC
rs578236256 CA7701736	649	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393310387 rs578236256	649	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7701738 rs375991281	650	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA7701740 rs766009905	651	P>S		No	ClinGen ExAC gnomAD
CA7701744 rs779351608	652	P>L		No	ClinGen ExAC TOPMed gnomAD
rs755234406 CA7701743	652	P>S		No	ClinGen ExAC gnomAD
CA7701747 rs374419638	653	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7701750 rs747135888	654	P>A		No	ClinGen ExAC gnomAD
rs541715240 CA7701751	654	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs542625941 CA7701755	656	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7701754 rs542625941	656	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200933790 CA7701757	657	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200933790 CA7701756	657	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1370647732 CA393310503	657	P>T		No	ClinGen gnomAD
rs1386693272 CA393310529	658	P>H		No	ClinGen gnomAD
CA7701759 rs760333556	658	P>S		No	ClinGen ExAC gnomAD
rs750551364	658	P>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA393310537 rs1301339208	659	L>F		No	ClinGen TOPMed
CA7701762 rs753376796	660	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7701763 rs201723993	660	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs201723993 CA393310558	660	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA273493753 rs753376796	660	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1234822643 CA393310575	661	A>V		No	ClinGen gnomAD
rs199528498 CA7701766	664	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1389907627 CA393310688	668	A>V		No	ClinGen gnomAD
CA393310711 rs1410054662	670	T>A		No	ClinGen TOPMed gnomAD
rs757217502 CA7701770	672	Q>H		No	ClinGen ExAC gnomAD
rs551108747 CA7701771	675	G>A		No	ClinGen 1000Genomes ExAC gnomAD
rs551108747 CA393310863	675	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs770096808 COSM965782 CA7701773	677	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs746026792 CA7701772	677	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA393310938 rs1400600686	678	A>V		No	ClinGen gnomAD
rs1313574228 CA393310966	680	V>A		No	ClinGen gnomAD
CA393310953 rs1439701599	680	V>M		No	ClinGen TOPMed
rs772135289 CA7701776	683	D>A		No	ClinGen ExAC gnomAD
rs1473681597 CA393311050	684	Q>*		No	ClinGen TOPMed
CA7701777 rs373672470	686	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs3814281 CA7701778 VAR_033211	686	R>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs3814281 CA393311089	686	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA393311120 rs1385273011	688	L>P		No	ClinGen gnomAD
CA393311155 rs776234348	690	C>W		No	ClinGen ExAC TOPMed gnomAD
CA7701779 rs770300757	690	C>Y		No	ClinGen ExAC gnomAD
rs200988242 CA393311158	691	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200988242 CA7701781	691	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA393311222 rs1475673420	695	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs764985595 CA7701782	696	R>*		No	ClinGen ExAC TOPMed gnomAD
CA7701783 rs753042412	696	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs763375138 CA7701784	697	P>A		No	ClinGen ExAC gnomAD
rs185943199 CA7701785	698	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7701786 rs752003684	698	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA393311320 rs1381848457	700	S>F		No	ClinGen TOPMed
rs567571420 CA7701788	702	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393311341 rs1340419921	702	E>K		No	ClinGen gnomAD
CA273493858 rs924942916	703	S>G		No	ClinGen TOPMed gnomAD
rs1566999455 CA393311364	703	S>N		No	ClinGen Ensembl
rs750566602 CA7701789	705	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7701792 rs780491539	706	C>F		No	ClinGen ExAC gnomAD
rs756278014 CA7701790	706	C>R		No	ClinGen ExAC gnomAD
rs780491539 CA7701791	706	C>Y		No	ClinGen ExAC gnomAD
CA7701816 rs763626038	709	S>C		No	ClinGen ExAC gnomAD
rs763626038 CA273494828	709	S>F		No	ClinGen ExAC gnomAD
CA7701819 rs369317992	710	M>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs369317992 CA273494851	710	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7701818 rs764707979	710	M>V		No	ClinGen ExAC TOPMed gnomAD
rs552489284 CA7701820	711	D>V		No	ClinGen 1000Genomes ExAC gnomAD
rs903000540 CA273494860	712	E>D		No	ClinGen TOPMed
CA393312875 rs1454643539	712	E>K		No	ClinGen gnomAD
rs1359217029 CA393312901	713	V>A		No	ClinGen gnomAD
rs1160590872 CA393312888	713	V>M		No	ClinGen gnomAD
CA7701822 rs565989700 CA7701821	714	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs372782750 CA273494877	715	A>S		No	ClinGen ESP TOPMed
CA393312982 rs1347541176	715	A>V		No	ClinGen TOPMed gnomAD
rs1173238678 CA393312994	716	S>A		No	ClinGen TOPMed gnomAD
CA7701824 rs768347524	716	S>F		No	ClinGen ExAC gnomAD
rs1033087182 CA273494897	717	L>I		No	ClinGen TOPMed
rs774568642 CA7701825	718	R>G		No	ClinGen ExAC
rs1306751840 CA393313021	718	R>K		No	ClinGen gnomAD
CA393313044 rs1567000322	719	H>R		No	ClinGen Ensembl
rs762305261 CA7701826	720	G>S		No	ClinGen ExAC TOPMed gnomAD
rs767778140 CA7701827	720	G>V		No	ClinGen ExAC TOPMed gnomAD
rs773714019 CA7701828	721	R>T		No	ClinGen ExAC gnomAD
CA393313104 rs1208666877	722	A>T		No	ClinGen TOPMed gnomAD
CA7701831 rs754013874	723	P>L		No	ClinGen ExAC TOPMed gnomAD
CA393313132 rs754013874	723	P>R		No	ClinGen ExAC TOPMed gnomAD
rs371266223 CA7701830	723	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7701832 rs755226643	724	L>V		No	ClinGen ExAC gnomAD
CA7701834 rs751303140	725	R>Q		No	ClinGen ExAC gnomAD
rs185529473 CA7701833	725	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7701836 rs757006327	726	K>N		No	ClinGen ExAC gnomAD
CA393313173 rs1567000371	726	K>R		No	ClinGen Ensembl
rs965771913 CA273494941	728	E>*		No	ClinGen gnomAD
CA7701837 rs200865698	728	E>A		No	ClinGen 1000Genomes ExAC gnomAD
CA7701838 rs371095351	730	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371095351 CA7701839	730	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1596290709 CA393313274	730	P>S		No	ClinGen Ensembl
rs1192128024 CA393313290	731	A>T		No	ClinGen Ensembl
CA7701841 rs748855464 COSM197079	731	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1596290741 CA393313310	732	V>G		No	ClinGen Ensembl
CA393313304 rs1470086514	732	V>L		No	ClinGen TOPMed
rs773987785 CA7701843	733	R>C		No	ClinGen ExAC TOPMed gnomAD
CA393313319 rs367653487	733	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7701844 rs367653487	733	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772437342 CA7701845	734	P>L		No	ClinGen ExAC gnomAD
CA393313339 rs1243474507	735	P>L		No	ClinGen gnomAD
rs1319784977 CA393313333	735	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1481315013 CA393313346	736	H>N		No	ClinGen gnomAD
rs386785864 CA273494979	736	H>P		No	ClinGen Ensembl
CA7701847 rs11259953 VAR_051489	736	H>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs11259954 CA7701848 VAR_051490	736	H>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs11259953 CA393313349	736	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7701850 rs367857647	737	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA7701851 rs367857647	737	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs180758302 CA7701852	737	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758570876 CA7701853 COSM1478404	739	I>V	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA7701854 rs199695328	740	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs375517957 CA7701856	742	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1596290836 CA393313393	743	I>F		No	ClinGen Ensembl
rs1596290841 CA393313400	744	L>R		No	ClinGen Ensembl
CA393313404 rs1596290851	745	A>P		No	ClinGen Ensembl
CA273495038 rs1047030255	746	A>S		No	ClinGen Ensembl
TCGA novel	747	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766435750 CA7701858	747	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1395433938 CA393313421	748	R>W		No	ClinGen gnomAD
CA393313440 rs1158723900	750	G>V		No	ClinGen gnomAD
rs1596290871 CA393313444	751	V>G		No	ClinGen Ensembl
CA393313451 rs1346023955	752	K>R		No	ClinGen gnomAD
CA393313455 rs1216192056	753	L>M		No	ClinGen gnomAD
CA7701861 rs541083213	753	L>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA393313466 rs1008396356	754	K>N		No	ClinGen gnomAD
rs1204738903 CA393313471	755	K>R		No	ClinGen gnomAD
rs1239635773 CA393313480	756	V>A		No	ClinGen gnomAD
CA273495053 rs1041206840	758	P>S		No	ClinGen gnomAD
rs747433519 CA7701864	759	D>V		No	ClinGen ExAC gnomAD
CA7701865 rs771558757	760	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA393313511 rs1596290918	761	G>A		No	ClinGen Ensembl
rs760129663 CA7701867	763	N>D		No	ClinGen ExAC TOPMed gnomAD
CA393313523 rs1190916800	763	N>K		No	ClinGen TOPMed
rs1596290926 CA393313520	763	N>T		No	ClinGen Ensembl
TCGA novel	764	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA273495057 rs185206135	768	P>L		No	ClinGen 1000Genomes
rs769862081 CA7701869	768	P>S		No	ClinGen ExAC gnomAD
CA7701870 rs775462676	769	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1567000620 CA393313566	770	S>C		No	ClinGen Ensembl
CA7701872 rs764271482	772	R>I		No	ClinGen ExAC gnomAD
CA7701873 COSM965784 rs200546799	773	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7701875 rs200330037	773	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7701876 rs200330037	773	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200546799 CA7701874	773	R>S		No	ClinGen ExAC TOPMed gnomAD
CA273495076 rs955542820	774	T>A		No	ClinGen TOPMed gnomAD
rs1345573346 CA393313595	775	S>G		No	ClinGen TOPMed gnomAD
CA393313596 rs1225013029	775	S>N		No	ClinGen gnomAD
CA393313594 rs1345573346	775	S>R		No	ClinGen TOPMed gnomAD
CA393313610 rs754906676	777	L>F		No	ClinGen ExAC TOPMed gnomAD
rs754906676 CA7701877	777	L>V		No	ClinGen ExAC TOPMed gnomAD
CA7701879 rs778457503	778	E>Q		No	ClinGen ExAC gnomAD
rs967295908 CA273495081	779	R>G		No	ClinGen Ensembl
CA7701880 rs369272117	779	R>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs758051915 CA7701881	780	S>G		No	ClinGen ExAC gnomAD
CA7701882 rs373764791	780	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA393313659 rs1423256872	781	I>M		No	ClinGen TOPMed gnomAD
rs746660734 CA7701883	781	I>V		No	ClinGen ExAC gnomAD
rs781706778 CA7701885	783	A>P		No	ClinGen ExAC TOPMed gnomAD
rs781706778 CA7701886	783	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7701887 rs770241644	784	A>T		No	ClinGen ExAC gnomAD
rs775615505 CA7701888 COSM197081	784	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs768787863 CA7701890	785	L>F		No	ClinGen ExAC
CA7701891 rs774498426	786	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA393313769 rs1272726610	789	K>E		No	ClinGen gnomAD
rs762045848 CA7701892	789	K>R		No	ClinGen ExAC gnomAD
rs974303002 CA273495117	790	R>K		No	ClinGen TOPMed
CA393313796 rs1308093910	791	V>L		No	ClinGen gnomAD
CA393313838 rs376698866	795	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376698866 CA7701893	795	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376698866 CA393313842	795	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1223967797 CA393313858	796	E>G		No	ClinGen gnomAD
rs753675960 CA7701895	797	E>D		No	ClinGen ExAC gnomAD
CA393313945 rs1490538463	800	D>E		No	ClinGen gnomAD
CA393313955 rs1223775502	801	E>G		No	ClinGen gnomAD
rs759499815 CA393313964	802	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA7701896 rs759499815	802	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA273495143 rs931392355	802	Q>R		No	ClinGen gnomAD
rs945951389 CA273495149	803	D>A		No	ClinGen Ensembl
rs1596291099 CA393314000	804	P>S		No	ClinGen Ensembl
rs752244443 CA7701898	805	G>A		No	ClinGen ExAC gnomAD
rs765148641 CA7701897	805	G>S		No	ClinGen ExAC gnomAD
CA273495158 rs752244443	805	G>V		No	ClinGen ExAC gnomAD
rs114783122 CA273495165	806	Q>*		No	ClinGen 1000Genomes
rs1567000822 CA393314087	809	G>S		No	ClinGen Ensembl

No associated diseases with Q8TF30

3 regional properties for Q8TF30

Type	Name	Position	InterPro Accession
domain	WH2 domain	739 - 756	IPR003124
domain	JMY/WHAMM, middle domain	78 - 442	IPR031738
domain	JMY/WHAMM, N-terminal	5 - 54	IPR031808

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Endoplasmic reticulum-Golgi intermediate compartment Cytoplasmic vesicle membrane Golgi apparatus, cis-Golgi network	Localized to a perinuclear compartment near the microtubule-organizing center (MTOC) Also detected on tubulo-vesicular structures in the cell periphery that frequently localized along microtubules
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic vesicle membrane	The lipid bilayer surrounding a cytoplasmic vesicle.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endoplasmic reticulum-Golgi intermediate compartment membrane	The lipid bilayer surrounding any of the compartments of the endoplasmic reticulum (ER)-Golgi intermediate compartment system.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
microtubule	Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle.

4 GO annotations of molecular function

Name	Definition
actin binding	Binding to monomeric or multimeric forms of actin, including actin filaments.
Arp2/3 complex binding	Binding to an Arp2/3 complex, a protein complex that contains two actin-related proteins, Arp2 and Arp3, and five novel proteins (ARPC1-5).
microtubule binding	Binding to a microtubule, a filament composed of tubulin monomers.
small GTPase binding	Binding to a small monomeric GTPase.

8 GO annotations of biological process

Name	Definition
actin filament organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments. Includes processes that control the spatial distribution of actin filaments, such as organizing filaments into meshworks, bundles, or other structures, as by cross-linking.
actin filament reorganization	A process that is carried out at the cellular level which results in dynamic structural changes to the arrangement of actin filaments.
Arp2/3 complex-mediated actin nucleation	The actin nucleation process in which actin monomers combine to form a new branch on the side of an existing actin filament; mediated by the Arp2/3 protein complex and its interaction with other proteins.
endoplasmic reticulum to Golgi vesicle-mediated transport	The directed movement of substances from the endoplasmic reticulum (ER) to the Golgi, mediated by COP II vesicles. Small COP II coated vesicles form from the ER and then fuse directly with the cis-Golgi. Larger structures are transported along microtubules to the cis-Golgi.
focal adhesion assembly	The aggregation and bonding together of a set of components to form a focal adhesion, a complex of intracellular signaling and structural proteins that provides a structural link between the internal actin cytoskeleton and the ECM, and also function as a locus of signal transduction activity.
lamellipodium assembly	Formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell.
plasma membrane tubulation	A membrane tubulation process occurring in a plasma membrane.
positive regulation of actin nucleation	Any process that activates or increases the frequency, rate or extent of actin nucleation, the initial step in the formation of an actin filament in which actin monomers combine to form a new filament.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MEDEQPDSLE	GWVPVREGLF	AEPERHRLRF	LVAWNGAEGK	FAVTCHDRTA	QQRRLREGAR
70	80	90	100	110	120
LGPEPEPKPE	AAVSPSSWAG	LLSAAGLRGA	HRQLAALWPP	LERCFPRLPP	ELDVGGGGAW
130	140	150	160	170	180
GLGLGLWALL	WPTRAGPGEA	ALQELCGQLE	RYLGAAADGC	GGATVRDALF	PAEGGAADCE
190	200	210	220	230	240
SPREFRERAL	RARWVEADAR	LRQVIQGHGK	ANTMVALMNV	YQEEDEAYQE	LVTVATMFFQ
250	260	270	280	290	300
YLLQPFRAMR	EVATLCKLDI	LKSLDEDDLG	PRRVVALEKE	AEEWTRRAEE	AVVSIQDITV
310	320	330	340	350	360
NYFKETVKAL	AGMQKEMEQD	AKRFGQAAWA	TAIPRLEKLQ	LMLARETLQL	MRAKELCLNH
370	380	390	400	410	420
KRAEIQGKME	DLPEQEKNTN	VVDELEIQFY	EIQLELYEVK	FEILKNEEIL	LTTQLDSLKR
430	440	450	460	470	480
LIKEKQDEVV	YYDPCENPEE	LKVIDCVVGL	QDDKNLEVKE	LRRQCQQLES	KRGRICAKRA
490	500	510	520	530	540
SLRSRKDQCK	ENHRFRLQQA	EESIRYSRQH	HSIQMKRDKI	KEEEQKKKEW	INQERQKTLQ
550	560	570	580	590	600
RLRSFKDKRL	AQSVRNTSGS	EPVAPNLPSD	LSQQMCLPAS	HAVSVIHPSS	RKTRGVPLSE
610	620	630	640	650	660
AGNVKSPKCQ	NCHGNIPVQV	FVPVGDQTHS	KSSEELSLPP	PPPPPPPPPP	PPPPPPPPLR
670	680	690	700	710	720
ALSSSSQAAT	HQNLGFRAPV	KDDQPRPLVC	ESPAERPRDS	LESFSCPGSM	DEVLASLRHG
730	740	750	760	770	780
RAPLRKVEVP	AVRPPHASIN	EHILAAIRQG	VKLKKVHPDL	GPNPSSKPTS	NRRTSDLERS
790	800
IKAALQRIKR	VSADSEEDSD	EQDPGQWDG