AiPD: Autoinhibited Protein Database

O15068

Gene name	MCF2L (KIAA0362, OST)
Protein name	Guanine nucleotide exchange factor DBS
Names	DBL's big sister , MCF2-transforming sequence-like protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23263
EC number
Protein Class

Descriptions

MCF2 protein is the prototype member of a large family of guanine nucleotide exchange factors (GEFs) that modulates the Rho family of GTPases. Removal of the N-terminal region results in a significant increase of MCF2 activity. Specifically, the autoinhibitory region binds to the PH domain, and limits the access of Rho GTPases to the catalytic DH domain and masks the intracellular targeting function of the PH domain.

Autoinhibitory domains (AIDs)

419-481 (Autoinhibitory region) SS

Target domain	823-947 (PH domain)
Relief mechanism	Cleavage
Assay

AID

419-481 (Autoinhibitory region)

Target domain

823-947 (PH domain)

Relief mechanism

Cleavage (Truncation of an N-terminal autoinhibitory region)

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

Bi F et al. (2001) "Autoinhibition mechanism of proto-Dbl", Molecular and cellular biology, 21, 1463-74

Autoinhibited structure

Activated structure

1 structures for O15068

Entry ID	Method	Resolution	Chain	Position	Source
AF-O15068-F1	Predicted				AlphaFoldDB

914 variants for O15068

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA7057724 rs776027444	5	W>R		No	ClinGen ExAC TOPMed gnomAD
rs761059421 CA7057725	6	R>T		No	ClinGen ExAC TOPMed gnomAD
rs778754914 CA388759691	11	K>N		No	ClinGen ExAC TOPMed gnomAD
CA388759686 rs1273826851	11	K>R		No	ClinGen TOPMed gnomAD
CA256415981 rs748150164	12	R>I		No	ClinGen Ensembl
TCGA novel	12	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388759712 rs1206667509	13	P>H		No	ClinGen TOPMed
rs1566626903 CA388759730	16	N>D		No	ClinGen Ensembl
rs1277422979 CA388759749	18	Y>C		No	ClinGen TOPMed gnomAD
CA388759769 rs772586901	21	P>L		No	ClinGen ExAC TOPMed gnomAD
rs772586901 CA7057728	21	P>R		No	ClinGen ExAC TOPMed gnomAD
CA7057730 rs766087469	22	Q>K		No	ClinGen ExAC gnomAD
TCGA novel	22	Q>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs9603799 CA7057732	23	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7057731 rs569294662	23	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752745702 CA7057734	25	N>S		No	ClinGen ExAC gnomAD
rs1395818441 CA388759803	27	A>S		No	ClinGen TOPMed
rs1439626241 CA388759808	28	K>E		No	ClinGen gnomAD
CA7057735 rs78490320	29	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7057736 rs777920076	32	T>M		No	ClinGen ExAC gnomAD
CA388759844 rs1594296790	33	D>H		No	ClinGen Ensembl
CA388759859 rs1369378660	35	Q>K		No	ClinGen TOPMed
rs757503852 CA7057738	36	I>T		No	ClinGen ExAC
TCGA novel	39	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1196888985 CA388759916	40	D>N		No	ClinGen gnomAD
rs775717849 CA7057742	41	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1213255372 CA388759942	42	I>L		No	ClinGen gnomAD
TCGA novel	45	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747611953 CA388759992	46	Q>*		No	ClinGen ExAC gnomAD
rs747611953 CA7057743	46	Q>K		No	ClinGen ExAC gnomAD
rs1419488369 CA388759996	46	Q>R		No	ClinGen TOPMed
CA388760005 rs1251454622	47	D>N		No	ClinGen TOPMed
rs768990447 CA7057744	48	T>I		No	ClinGen ExAC TOPMed gnomAD
CA7057746 rs534913827	49	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs534913827 CA7057745	49	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1193629957 CA388760030	49	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7057748 rs577746082	51	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs767476517 CA7057750	52	T>A		No	ClinGen ExAC gnomAD
CA7057751 rs193262371	52	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1384339126 CA388760081	53	A>T		No	ClinGen gnomAD
rs753973595 CA7057754	54	M>I		No	ClinGen ExAC gnomAD
rs542171405 CA7057753	54	M>T		No	ClinGen 1000Genomes ExAC gnomAD
CA256416156 rs975352453	54	M>V		No	ClinGen TOPMed
rs1566627041 CA388760127	56	T>I		No	ClinGen Ensembl
CA7058012 rs146840178	58	E>K		No	ClinGen ESP ExAC TOPMed
rs774773724 CA7058013	60	M>V		No	ClinGen ExAC gnomAD
rs887447318 CA256466618	62	Q>E		No	ClinGen Ensembl
rs181380349 CA7058014	64	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388767464 rs139777066	64	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA7058015 rs767998495	64	I>S		No	ClinGen ExAC
rs181380349 CA388767458	64	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761108440 CA7058017	65	V>A		No	ClinGen ExAC gnomAD
rs1479617086 CA388767467	65	V>L		No	ClinGen TOPMed
rs764620726 CA7058018	66	P>L		No	ClinGen ExAC gnomAD
CA7058020 rs757973919	67	L>H		No	ClinGen ExAC gnomAD
rs1299934453 CA388767494	68	C>S		No	ClinGen gnomAD
CA7058023 rs754554480	71	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7058024 rs780975418	73	Q>H		No	ClinGen ExAC gnomAD
rs945604398 CA256466667	74	D>G		No	ClinGen TOPMed gnomAD
rs532612552 CA7058025	74	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1316118130 CA388767595	75	Q>E		No	ClinGen gnomAD
CA7058026 rs144497036	79	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs777818682 CA7058027	79	R>H		No	ClinGen ExAC gnomAD
rs774507822 CA7058030	83	L>V		No	ClinGen ExAC TOPMed gnomAD
rs776029015 CA7058033	85	G>S		No	ClinGen ExAC TOPMed gnomAD
rs752463628 CA7058061 COSM1365559	87	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7058060 rs767003814	87	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA388769999 rs1426775817	89	Q>*		No	ClinGen gnomAD
rs982002885 CA256472638	90	D>G		No	ClinGen TOPMed gnomAD
CA7058063 rs763965380	90	D>H		No	ClinGen ExAC gnomAD
CA7058065 rs757292269	91	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1327501071 CA388770042	92	S>R		No	ClinGen gnomAD
CA388770053 rs779032423	93	P>L		No	ClinGen ExAC TOPMed gnomAD
rs779032423 CA7058066	93	P>R		No	ClinGen ExAC TOPMed gnomAD
CA388770068 rs1282674662	95	I>V		No	ClinGen gnomAD
TCGA novel	96	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779991619 CA7058069	100	Y>C		No	ClinGen ExAC gnomAD
CA7058072 rs371845283	101	P>L		No	ClinGen ESP ExAC gnomAD
rs768700375 CA7058071	101	P>S		No	ClinGen ExAC gnomAD
rs748418171 CA7058073	102	A>D		No	ClinGen ExAC gnomAD
rs748418171 CA7058074	102	A>G		No	ClinGen ExAC gnomAD
rs1490475073 CA388770146	102	A>T		No	ClinGen gnomAD
rs1478504633 CA388770174	104	S>G		No	ClinGen TOPMed gnomAD
CA388770179 rs763450173	104	S>I		No	ClinGen ExAC TOPMed gnomAD
rs763450173 CA7058076	104	S>N		No	ClinGen ExAC TOPMed gnomAD
rs35348545 CA7058079	105	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1475298689 CA388770185	105	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7058080 rs763614484	106	I>T		No	ClinGen ExAC gnomAD
CA7058081 rs753497671	107	P>L		No	ClinGen ExAC gnomAD
CA7058083 rs765108772	108	D>E		No	ClinGen ExAC gnomAD
rs1257290579 CA388770237	109	K>E		No	ClinGen TOPMed
rs1049545569 CA256472730	109	K>R		No	ClinGen TOPMed gnomAD
CA388770292 rs1401921160	113	N>H		No	ClinGen TOPMed gnomAD
CA7058084 rs750450679	114	V>I		No	ClinGen ExAC
CA388770320 rs1319298629	115	M>T		No	ClinGen TOPMed gnomAD
rs554580316 CA256472738	115	M>V		No	ClinGen 1000Genomes
rs1395006282 CA388770339	116	T>I		No	ClinGen TOPMed
CA388770400 rs1373602165	122	P>T		No	ClinGen TOPMed
CA388770419 rs1299531755	123	S>I		No	ClinGen TOPMed
CA7058281 rs369434363	127	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs372937886 CA7058283	130	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7058285 rs778205605	133	L>R		No	ClinGen ExAC gnomAD
rs749797611 CA7058286	134	V>M		No	ClinGen ExAC TOPMed gnomAD
CA388766004 rs1167850330	135	I>T		No	ClinGen gnomAD
CA388765997 rs1363243512	135	I>V		No	ClinGen TOPMed
CA388766033 rs1406232733	137	R>Q		No	ClinGen gnomAD
CA388766031 rs1368238188	137	R>W		No	ClinGen TOPMed gnomAD
CA7058287 rs771488258	138	R>*		No	ClinGen ExAC TOPMed gnomAD
rs1023288897 CA256446182	138	R>Q		No	ClinGen TOPMed gnomAD
CA388766054 rs768259190	139	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7058290 rs768259190	139	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7058289 rs143150757 COSM1586893	139	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA7058291 rs776390492	143	T>A		No	ClinGen ExAC TOPMed
CA388766126 rs773087124	145	V>L		No	ClinGen ExAC TOPMed gnomAD
rs773087124 CA7058294	145	V>M		No	ClinGen ExAC TOPMed gnomAD
CA7058295 rs762878116	147	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7058297 rs751605602	149	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs202067893 CA7058298	150	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA388766161 rs1428890653	151	R>C		No	ClinGen gnomAD
rs767778805 COSM1365562 CA7058299	151	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs199644323 CA7058302	153	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7058301 COSM1513540 rs199644323	153	A>T	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs141491899 CA388769137	154	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7058358 rs141491899	154	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7058360 rs763583495	157	P>L		No	ClinGen ExAC gnomAD
rs1202320296 CA388769215	158	A>E		No	ClinGen gnomAD
CA388769210 rs1340858927	158	A>S		No	ClinGen gnomAD
rs1594883765 CA388769227	159	N>T		No	ClinGen Ensembl
CA388769245 rs1451771096	160	L>P		No	ClinGen gnomAD
CA7058363 rs755718311	162	L>F		No	ClinGen ExAC gnomAD
CA7058364 rs763446044 COSM3417388	163	V>I	Variant assessed as Somatic; 4.688e-05 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA388769302 rs763446044	163	V>L		No	ClinGen ExAC TOPMed gnomAD
CA256457329 rs371407134	164	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA7058365 rs371407134	164	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs375295899 CA7058367	165	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs745705944 CA7058368	166	L>P		No	ClinGen ExAC gnomAD
CA388769336 rs1392937084	167	R>C		No	ClinGen gnomAD
rs1381955463 CA388769338	167	R>H		No	ClinGen TOPMed
TCGA novel	167	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1586891 rs935650846 CA256457343	168	P>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA7058373 rs768781714	169	T>M		No	ClinGen ExAC gnomAD
CA7058372 rs138170411	169	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7058376 rs770099558	170	G>D		No	ClinGen ExAC
rs150608077 CA7058375	170	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA256457358 rs372364697	174	R>G		No	ClinGen ESP TOPMed gnomAD
CA388769418 rs1487236173	175	T>A		No	ClinGen TOPMed
CA388769427 rs1208942637	176	L>F		No	ClinGen TOPMed gnomAD
CA388769429 rs1208942637	176	L>V		No	ClinGen TOPMed gnomAD
rs773534963 CA7058378	178	D>N		No	ClinGen ExAC gnomAD
rs763471280 CA7058381	179	I>M		No	ClinGen ExAC TOPMed gnomAD
rs149372771 CA7058383	180	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149372771 CA7058382	180	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	183	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA256457394 rs375114237	184	N>S		No	ClinGen ESP TOPMed gnomAD
rs753251608 CA7058384	185	R>I		No	ClinGen ExAC gnomAD
rs559985784 CA256457404	187	D>E		No	ClinGen TOPMed
TCGA novel	190	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1370338642 CA388769606	191	K>Q		No	ClinGen gnomAD
rs758252641	193	P>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA388769631 rs1388763001	193	P>A		No	ClinGen gnomAD
CA7058387 COSM1365565 rs750060795	193	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs750060795 CA388769634	193	P>R		No	ClinGen ExAC gnomAD
rs545261434 CA7058424	194	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA7058425 rs762623744	199	S>F		No	ClinGen ExAC gnomAD
CA7058427 rs563320301	200	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA388770026 rs1315190759	201	P>S		No	ClinGen Ensembl
rs767276869 CA7058430	202	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1232485217 CA388770052	203	L>I		No	ClinGen TOPMed
rs374604350 CA7058431	204	H>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs146376009 CA388770074	204	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1666744 rs764301327 CA7058434	204	H>Q	eye [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs146376009 CA7058432	204	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs142948956 CA7058435	205	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139692565 CA256465329	206	Y>*		No	ClinGen ESP ExAC gnomAD
CA7058438 rs144351365	207	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs114065146 CA256465331	208	D>G		No	ClinGen 1000Genomes
rs780405019 CA7058439	208	D>N		No	ClinGen ExAC gnomAD
rs74949017 CA7058440	209	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7058443 rs748844765	212	L>R		No	ClinGen ExAC gnomAD
CA7058446 rs759172305	214	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs775385500 CA7058448	221	D>N		No	ClinGen ExAC gnomAD
CA7058449 rs760519627	222	Y>H		No	ClinGen ExAC gnomAD
rs202150098 CA7058450	222	Y>S		No	ClinGen ExAC gnomAD
rs1488044681 CA388770332	223	C>*		No	ClinGen gnomAD
rs1413210536 CA388770329	223	C>Y		No	ClinGen TOPMed
rs753816503 CA7058451	225	S>F		No	ClinGen ExAC gnomAD
rs1566830256 CA388770353	225	S>T		No	ClinGen Ensembl
rs148787300 CA7058453	226	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7058452 rs148787300 RCV000908208	226	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM1649019 rs1249854544 CA388770367	226	R>W	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
TCGA novel	227	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7058454 rs750620975	227	W>S		No	ClinGen ExAC TOPMed gnomAD
CA7058456 rs201672761	229	C>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388770407 rs201672761	229	C>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7058457 rs374546993	230	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs755313548 CA7058458	231	R>C		No	ClinGen ExAC TOPMed gnomAD
rs142521453 CA7058459	231	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs770362075	232	T>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA7058460 rs376533695	232	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA7058490 rs374638058	233	A>G		No	ClinGen ESP ExAC gnomAD
rs759707293 CA7058492	234	I>M		No	ClinGen ExAC TOPMed gnomAD
CA7058491 rs372033279	234	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA256465803 rs1003563436	235	E>K		No	ClinGen TOPMed gnomAD
rs753146067 CA388771161	238	A>S		No	ClinGen ExAC TOPMed gnomAD
rs753146067 CA7058494	238	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7058496 rs778406253	240	M>T		No	ClinGen ExAC gnomAD
CA388771212 rs1369432489	242	K>E		No	ClinGen gnomAD
rs746282844 CA256465834	243	Q>*		No	ClinGen TOPMed
CA388771228 rs746282844	243	Q>E		No	ClinGen TOPMed
CA7058497 rs376518005	244	T>M	Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs376518005 CA256465839	244	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1345140129 CA388771288	246	Q>*		No	ClinGen gnomAD
rs1194937587 CA388771309	247	M>L		No	ClinGen TOPMed
CA7058499 rs150925091	250	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1274951868 CA388771397	251	F>L		No	ClinGen TOPMed gnomAD
CA256465881 rs953604623	252	G>R		No	ClinGen Ensembl
rs1283043204 CA388771416	253	T>S		No	ClinGen TOPMed
rs144305393 CA7058501	254	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144305393 CA388771435	254	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	256	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388771530 rs1479206570	259	E>D		No	ClinGen gnomAD
CA388771523 rs1270814772	259	E>G		No	ClinGen TOPMed
TCGA novel	261	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780674022 CA7058502	262	N>D		No	ClinGen ExAC gnomAD
CA256465898 rs1038007669	262	N>S		No	ClinGen TOPMed
rs368858019 CA7058505	264	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs368858019 CA7058504	264	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA7058506 rs374362212	266	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA388771640 rs374362212	266	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel CA388771669 rs1594904456	268	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
CA388771704 rs1594904492	271	L>P		No	ClinGen Ensembl
rs759580777 CA388771721	272	C>*		No	ClinGen ExAC TOPMed gnomAD
rs1169139099 CA388771714	272	C>Y		No	ClinGen TOPMed
CA7058510 rs376965246	273	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1209407265 CA388771793	277	K>N		No	ClinGen TOPMed
CA7058513 rs764302488	277	K>R		No	ClinGen ExAC TOPMed gnomAD
CA388771800 rs1368653152	278	K>E		No	ClinGen gnomAD
rs1230483480 CA388771806	278	K>R		No	ClinGen gnomAD
rs754386722 CA7058514	279	D>Y		No	ClinGen ExAC gnomAD
CA7058515 rs757786867	280	K>Q		No	ClinGen ExAC gnomAD
CA7058517 rs373112614	281	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1586889 rs373112614 CA7058516	281	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA388771868 rs1453699022	282	K>R		No	ClinGen gnomAD
CA388772257 rs1171246300	284	D>G		No	ClinGen gnomAD
rs765051788 CA7058582	286	R>S		No	ClinGen ExAC gnomAD
CA256466919 rs1026816761	291	E>V		No	ClinGen Ensembl
rs750222460 CA7058583	292	G>V		No	ClinGen ExAC gnomAD
CA256466934 rs952688172	295	V>I		No	ClinGen TOPMed gnomAD
CA256466938 rs1006796407	299	L>H		No	ClinGen Ensembl
rs779911619 CA7058585	300	R>G		No	ClinGen ExAC gnomAD
rs1361315772 CA388772452	302	L>P		No	ClinGen Ensembl
CA7058587 rs147786310	304	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1234159203 CA388772470	304	A>S		No	ClinGen gnomAD
rs1594909724 CA388772531	309	P>L		No	ClinGen Ensembl
CA7058588 rs781360637	310	S>I		No	ClinGen ExAC gnomAD
rs748402721 CA388772593 CA7058589	314	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1229493713 CA388772591	314	D>G		No	ClinGen TOPMed gnomAD
rs770099680 CA7058590	317	D>N		No	ClinGen ExAC gnomAD
rs749672543 CA256466960	318	N>K		No	ClinGen ExAC TOPMed gnomAD
CA7058593 rs771325190	319	Q>*		No	ClinGen ExAC TOPMed
rs768179675 CA7058596	322	V>A		No	ClinGen ExAC gnomAD
RCV000974476 CA7058595 rs143965865	322	V>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA388772697 rs1169327298	323	Q>R		No	ClinGen gnomAD
CA7058597 rs776083009	324	R>T		No	ClinGen ExAC gnomAD
CA7058623 rs759374472	325	L>F		No	ClinGen ExAC gnomAD
CA388773647 rs1475552333	328	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs548959082 CA7058625	330	N>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1258494957 CA388773665	330	N>T		No	ClinGen gnomAD
rs561285154 CA7058626	331	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs754031767 CA7058628	333	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA388773698 rs754031767	333	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1186204557 CA388773712	334	A>T		No	ClinGen gnomAD
rs368669893 CA7058629	334	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs974105540 CA256468683	335	A>V		No	ClinGen TOPMed
rs1159017287 CA388773741	337	D>H		No	ClinGen gnomAD
CA388773740 rs1159017287 COSM3376482	337	D>N	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1047262347 CA256468707	343	H>L		No	ClinGen TOPMed gnomAD
CA388773816 rs1047262347	343	H>R		No	ClinGen TOPMed gnomAD
CA388773814 rs1261365006	343	H>Y		No	ClinGen TOPMed
CA7058631 rs746284062	349	Q>K		No	ClinGen ExAC gnomAD
CA7058633 rs149106318	350	C>F		No	ClinGen ESP ExAC gnomAD
CA7058632 rs758744706	350	C>R		No	ClinGen ExAC gnomAD
CA388773889 rs1373769097	354	R>Q		No	ClinGen gnomAD
CA256468738 rs886825193	354	R>W		No	ClinGen TOPMed
CA388773915 rs200776921	357	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA388773929 rs1304698201	359	G>V		No	ClinGen gnomAD
rs1313450189 CA388773935	360	F>C		No	ClinGen gnomAD
CA388773940 rs1566839016	361	R>Q		No	ClinGen Ensembl
rs772722164 CA256468739	361	R>W		No	ClinGen TOPMed gnomAD
CA7058672 rs751960337	368	D>E		No	ClinGen ExAC gnomAD
CA7058673 rs771679692	369	A>S		No	ClinGen ExAC gnomAD
rs771679692 CA388774212	369	A>T		No	ClinGen ExAC gnomAD
rs77496669 CA7058674	370	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388774242 rs1370364254	372	Q>E		No	ClinGen gnomAD
rs745549893 CA7058677	374	I>R		No	ClinGen ExAC gnomAD
CA256471208 rs754668596	378	T>I		No	ClinGen TOPMed gnomAD
rs866315171 CA256471215	379	D>E		No	ClinGen Ensembl
rs1166367072 CA388774330	380	I>V		No	ClinGen gnomAD
CA7058679 rs779834890	381	G>S		No	ClinGen ExAC TOPMed gnomAD
CA7058681 rs768328228	383	S>R		No	ClinGen ExAC gnomAD
CA7058683 rs555485471	385	A>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1399581616 CA388774380	385	A>T		No	ClinGen TOPMed
CA7058682 rs555485471	385	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA7058686 rs762987954	386	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA7058685 rs141493325	386	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs146333822 CA7058687	388	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7058689 rs759949237	389	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs774543076 CA7058688	389	H>R		No	ClinGen ExAC gnomAD
CA388774444 rs1207383838	391	L>M		No	ClinGen gnomAD
CA388774474 rs1395191081	393	D>E		No	ClinGen TOPMed gnomAD
rs200960110 CA7058690	394	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7058691 rs142970403	395	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs756539848 CA7058692	397	F>L		No	ClinGen ExAC gnomAD
CA256471347 rs758359071	398	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7058694 rs758359071	398	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA7058696 rs779923137	400	K>N		No	ClinGen ExAC gnomAD
CA7058695 rs757972824	400	K>R		No	ClinGen ExAC gnomAD
CA7058728 rs761184684	403	V>G		No	ClinGen ExAC gnomAD
TCGA novel	404	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388775146 rs1278390158	404	A>V		No	ClinGen gnomAD
CA7058731 rs146112954	405	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1047271180 CA256471764	406	E>D		No	ClinGen gnomAD
rs140013835 CA7058732	406	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1195410477 CA388775168	408	A>S		No	ClinGen gnomAD
CA388775166 rs1195410477	408	A>T		No	ClinGen gnomAD
CA388775171 rs1253157739	408	A>V		No	ClinGen gnomAD
CA7058733 rs201067980	409	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs887354520 CA256471765	409	R>W		No	ClinGen TOPMed gnomAD
rs759066012 CA7058734	410	A>D		No	ClinGen ExAC gnomAD
CA7058735 rs368226394	414	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA388775203 rs1396212263	415	G>S		No	ClinGen TOPMed gnomAD
CA7058739 rs552237695	416	E>K		No	ClinGen ExAC TOPMed gnomAD
CA388775250 rs1566847093	419	I>L		No	ClinGen Ensembl
CA7058741 rs144161603	419	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs745990182 CA7058742	420	G>R		No	ClinGen ExAC TOPMed gnomAD
CA7058744 rs139530619	421	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000888083 rs117508840 CA7058743	421	N>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1250606504 CA388775292	423	H>D		No	ClinGen gnomAD
rs145260894 CA7058746	425	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201603170 CA7058747	425	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7058749 rs770255718	426	V>A		No	ClinGen ExAC TOPMed gnomAD
CA256471811 rs770255718	426	V>G		No	ClinGen ExAC TOPMed gnomAD
CA256471817 rs557301290	430	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA256471821 rs889988810	430	R>H		No	ClinGen TOPMed gnomAD
CA7058750 rs557301290	430	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1234881787 CA388775379	431	P>L		No	ClinGen TOPMed
TCGA novel	433	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1464337399 CA388775402	433	C>Y		No	ClinGen gnomAD
rs74926660 CA7058753	437	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs367959410 CA7058754	437	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA7058752 rs74926660 RCV000949369	437	R>W		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7058756 rs753680105	438	H>R		No	ClinGen ExAC gnomAD
CA388775474 rs1295038433	440	C>G		No	ClinGen gnomAD
rs1326725332 CA388775513	443	F>C		No	ClinGen TOPMed
TCGA novel rs1234863000 CA388775509	443	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
CA388775525 rs142444839	445	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7058758 rs142444839	445	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780137211 CA7058762	446	E>D		No	ClinGen ExAC gnomAD
CA388775539 rs372263942	447	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs577649571 CA7058763	447	I>N		No	ClinGen 1000Genomes ExAC gnomAD
rs941609273 CA256471905	448	A>E		No	ClinGen TOPMed
CA7058766 rs374855101	448	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7058765 rs374855101	448	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1477062440 CA388775545	449	R>K		No	ClinGen gnomAD
rs1190558415 CA388775557	451	R>G		No	ClinGen TOPMed gnomAD
rs773598641 CA388775560	451	R>M		No	ClinGen ExAC gnomAD
CA7058767 rs773598641	451	R>T		No	ClinGen ExAC gnomAD
rs1052686069 CA256471938	452	G>E		No	ClinGen TOPMed gnomAD
rs563320730 CA7058769	452	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7058770 rs563320730	452	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	453	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1288545212 CA388775573	454	L>F		No	ClinGen gnomAD
rs367795945 CA7058772	455	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA388775592 rs1594940253	457	S>T		No	ClinGen Ensembl
TCGA novel	460	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145619176 CA256471978	462	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7058775 rs138339540	462	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145619176 CA7058774	462	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs750353648 CA7058776	463	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7058777 rs201412482	463	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388775630 rs201412482	463	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7058779 rs751741111	466	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1198591326 CA388775732	468	M>T		No	ClinGen gnomAD
CA7058818 rs760655483	468	M>V		No	ClinGen ExAC TOPMed gnomAD
CA7058819 rs764442744	471	C>Y		No	ClinGen ExAC gnomAD
CA388775816 rs1469904341	473	E>K		No	ClinGen gnomAD
COSM1586883 CA7058820 rs753938625	475	I>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA7058821 rs748158374	476	Y>*		No	ClinGen ExAC gnomAD
rs977752387 CA256472591	481	Q>H		No	ClinGen Ensembl
rs1029324504 CA256472594	482	P>T		No	ClinGen TOPMed
rs199856433 CA256472596	483	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199856433 CA7058822	483	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388776034 rs1464856461	486	C>R		No	ClinGen gnomAD
TCGA novel	490	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1566849849 CA388776130	491	G>D		No	ClinGen Ensembl
CA7058825 rs758947165	491	G>S		No	ClinGen ExAC gnomAD
CA256472607 rs936405302	492	A>V		No	ClinGen TOPMed
rs1444035689 CA388776174	494	A>T		No	ClinGen TOPMed
rs770872135 CA388776270	499	I>M		No	ClinGen ExAC TOPMed gnomAD
CA388776274 rs1318236335	500	E>A		No	ClinGen TOPMed
CA388776294 rs1337644578	501	K>T		No	ClinGen gnomAD
rs974286494 CA256472620	502	F>L		No	ClinGen TOPMed
CA388776355 rs1394561763	504	E>D		No	ClinGen gnomAD
CA7058834 rs772194442	506	G>S		No	ClinGen ExAC TOPMed gnomAD
CA7058835 rs755155999	507	A>T		No	ClinGen ExAC TOPMed gnomAD
rs760812522 CA7058836	507	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1566850177 CA388776397	508	E>K		No	ClinGen Ensembl
CA388776452 rs1401311462	512	Q>R		No	ClinGen TOPMed
rs1173032101 CA388776481	514	L>F		No	ClinGen TOPMed
CA388776485 rs1408030241	514	L>P		No	ClinGen TOPMed
CA7058838 RCV000957193 rs116760356	515	N>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1191300008 CA388776497	515	N>S		No	ClinGen TOPMed gnomAD
rs151147187 CA388776507	516	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765411448 CA7058840	516	A>T		No	ClinGen ExAC gnomAD
rs151147187 CA7058841	516	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766980247 CA7058843	518	Y>F		No	ClinGen ExAC gnomAD
CA388776528 rs1318604666	519	K>*		No	ClinGen gnomAD
rs748980830 CA7058847	522	E>D		No	ClinGen ExAC gnomAD
rs199990494 CA7058845	522	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs532784981 CA7058846	522	E>V		No	ClinGen 1000Genomes ExAC
CA7058848 rs757018846	527	Q>K		No	ClinGen ExAC gnomAD
CA7058849 rs139393934	529	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA388776657 rs139393934	529	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs745721943 CA7058851	530	M>I		No	ClinGen ExAC gnomAD
rs1037420873 CA256472727	530	M>V		No	ClinGen TOPMed
rs369170724 CA7058879	531	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1376284376 CA388777198	531	E>G		No	ClinGen gnomAD
CA388777191 rs1332562721	531	E>K		No	ClinGen gnomAD
rs769761739 CA256473472	532	H>N		No	ClinGen Ensembl
rs149169648 CA388777217	533	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7058882 rs149169648	533	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388777227 COSM1365568 rs761420211	534	R>*	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7058884 rs373448735	534	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7058887 rs779731261	537	F>L		No	ClinGen ExAC gnomAD
rs758022585 CA7058886	537	F>L		No	ClinGen ExAC gnomAD
rs1374340847 CA388777262	537	F>S		No	ClinGen TOPMed
CA7058888 rs751372396	541	A>T		No	ClinGen ExAC gnomAD
CA7058889 CA388777322 rs531557786	542	S>R		No	ClinGen 1000Genomes ExAC gnomAD
CA388777354 rs1439790242	545	E>K		No	ClinGen TOPMed
CA256473521 rs370479953	549	R>C		No	ClinGen ESP TOPMed gnomAD
CA7058892 rs544102223	549	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs544102223 CA256473530	549	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1172057682 CA388777422	550	R>G		No	ClinGen gnomAD
rs1400267537 CA388777436	551	Q>K		No	ClinGen gnomAD
rs777792984 CA7058894	552	A>P		No	ClinGen ExAC TOPMed gnomAD
rs777792984 CA7058893	552	A>T		No	ClinGen ExAC TOPMed gnomAD
CA388777453 rs1409740494	553	S>N		No	ClinGen TOPMed
rs1328079255 CA388777463	555	K>Q		No	ClinGen gnomAD
TCGA novel	557	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA256473543 rs1014575987	557	L>R		No	ClinGen TOPMed
CA388777483 rs1391534597	558	A>T		No	ClinGen TOPMed gnomAD
CA388777489 rs1200589052	559	A>T		No	ClinGen TOPMed
CA388777505 rs995025509	561	Q>P		No	ClinGen gnomAD
rs995025509 CA256473551	561	Q>R		No	ClinGen gnomAD
CA7058896 rs373297897	562	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1316041355 CA388777527	565	V>M		No	ClinGen TOPMed gnomAD
CA7058900 rs761219530	567	P>L		No	ClinGen ExAC TOPMed gnomAD
CA388777620 rs1263357448	573	E>K		No	ClinGen gnomAD
rs766014830 CA7058904	574	A>T		No	ClinGen ExAC TOPMed gnomAD
rs911820782 CA256473614	578	S>L		No	ClinGen Ensembl
CA388777676 rs1566852867	578	S>T		No	ClinGen Ensembl
rs1167640172 CA388777691	579	P>R		No	ClinGen TOPMed gnomAD
CA256473621 rs976747933	579	P>S		No	ClinGen TOPMed gnomAD
TCGA novel	579	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7058907 rs780916625	580	C>Y		No	ClinGen ExAC gnomAD
rs752662363 CA7058908	581	P>L		No	ClinGen ExAC gnomAD
rs940875433 CA256473634	583	P>S		No	ClinGen TOPMed gnomAD
TCGA novel	584	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368347132 CA7058937	586	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7058936 rs375646135	586	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1586879 CA7058938 rs183892240	587	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA7058939 rs764174855	588	G>V		No	ClinGen ExAC TOPMed gnomAD
CA256474555 rs938519704	589	S>T		No	ClinGen gnomAD
rs1436795794 CA388777966	590	E>A		No	ClinGen TOPMed gnomAD
rs1436926149 CA388777971	590	E>D		No	ClinGen gnomAD
rs1378744198 CA388777963	590	E>K		No	ClinGen gnomAD
rs894480249 CA256474559	591	N>D		No	ClinGen TOPMed gnomAD
rs894480249 CA388777974	591	N>Y		No	ClinGen TOPMed gnomAD
CA256474563 rs948663878	592	S>A		No	ClinGen TOPMed gnomAD
CA388777989 rs1358360530	592	S>Y		No	ClinGen gnomAD
CA7058942 rs767216487	593	S>N		No	ClinGen ExAC TOPMed gnomAD
CA7058943 rs145119738	594	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753750003 CA7058946	595	E>D		No	ClinGen ExAC TOPMed gnomAD
rs549114108 CA7058945	595	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs145034791 CA7058947	596	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA388778039 rs1320436525	597	G>A		No	ClinGen TOPMed gnomAD
CA388778036 rs750570892	597	G>C		No	ClinGen ExAC TOPMed gnomAD
CA7058949 rs750570892	597	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1320436525 CA388778041	597	G>V		No	ClinGen TOPMed gnomAD
rs370451593 CA7058950	598	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	599	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388778053 rs1230682721	599	L>I		No	ClinGen TOPMed
CA388778067 rs200280099	600	R>L		No	ClinGen 1000Genomes ExAC gnomAD
CA7058952 rs200280099	600	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1458583423 CA388778063	600	R>W		No	ClinGen gnomAD
CA388778069 rs1340365048	601	R>G		No	ClinGen TOPMed
CA7058953 rs755420880	601	R>K		No	ClinGen ExAC TOPMed gnomAD
CA7058955 rs748430788	604	Y>H		No	ClinGen ExAC gnomAD
CA7058956 rs767682120	604	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs200142815 CA388778112	605	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7058958 rs200142815	605	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs778131865 CA7058957	605	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs756616118 CA256474643	606	R>K		No	ClinGen TOPMed gnomAD
rs756616118 CA388778121	606	R>M		No	ClinGen TOPMed gnomAD
rs760281460 CA388778131	607	A>G		No	ClinGen ExAC gnomAD
rs775144196 CA7058960	607	A>T		No	ClinGen ExAC TOPMed gnomAD
rs760281460 CA7058961	607	A>V		No	ClinGen ExAC gnomAD
CA388778134 rs1388975255	608	K>E		No	ClinGen TOPMed
rs1388975255 CA388778132	608	K>Q		No	ClinGen TOPMed
rs1163508791 CA388778137	608	K>T		No	ClinGen TOPMed
CA256474924 rs763935551	611	M>V		No	ClinGen gnomAD
rs756520977 CA7058990	612	S>T		No	ClinGen ExAC gnomAD
TCGA novel	614	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388778244 rs779374828	615	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7058994 rs779374828	615	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7058993 rs142144978 RCV000898735	615	R>W		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	616	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746584526 CA7058995	618	R>C		No	ClinGen ExAC gnomAD
rs1286949454 CA388778262	618	R>H		No	ClinGen TOPMed gnomAD
CA7058998 rs140378410	619	G>S		No	ClinGen ESP ExAC gnomAD
rs769664710 CA7058999	620	S>A		No	ClinGen ExAC gnomAD
CA388778273 rs1443002372	620	S>L		No	ClinGen gnomAD
CA256474979 rs11840035	621	A>S		No	ClinGen gnomAD
rs535420300 CA7059000	621	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7059003 rs774428094	622	G>A		No	ClinGen ExAC TOPMed
rs951306675 CA256475010	622	G>R		No	ClinGen gnomAD
CA388778280 rs951306675	622	G>W		No	ClinGen gnomAD
rs767444942 CA7059006	623	E>*		No	ClinGen ExAC gnomAD
rs775811522 CA7059007	625	E>*		No	ClinGen ExAC
rs1404793405 CA388778316	627	S>N		No	ClinGen TOPMed gnomAD
CA388778317 rs1404793405	627	S>T		No	ClinGen TOPMed gnomAD
CA7059010 rs754255363	632	R>H		No	ClinGen ExAC TOPMed gnomAD
rs754255363 CA388778348	632	R>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	633	R>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388779179 rs1267564860	634	H>Y		No	ClinGen gnomAD
CA388779209 rs1198671571	635	V>M		No	ClinGen gnomAD
CA388779278 rs1479090593	636	M>T		No	ClinGen gnomAD
rs773432986 CA256480670	637	S>I		No	ClinGen TOPMed gnomAD
CA388779300 rs773432986	637	S>N		No	ClinGen TOPMed gnomAD
rs773432986 CA388779299	637	S>T		No	ClinGen TOPMed gnomAD
rs1423032486 CA388779335	639	L>I		No	ClinGen gnomAD
TCGA novel	640	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376879927 CA7059032	641	D>H		No	ClinGen ESP ExAC gnomAD
CA388779420 rs1391793357	643	E>K		No	ClinGen TOPMed gnomAD
CA388779421 rs1391793357	643	E>Q		No	ClinGen TOPMed gnomAD
rs1301137982 CA388779461	644	R>P		No	ClinGen gnomAD
rs902748756 CA256480679	644	R>W		No	ClinGen gnomAD
CA256480681 rs865828325	645	A>D		No	ClinGen Ensembl
CA388779507 rs1219189890	647	V>M		No	ClinGen gnomAD
rs1183309155 CA388779618	650	L>M		No	ClinGen TOPMed
CA388779655 rs1389410391	651	L>R		No	ClinGen TOPMed gnomAD
CA7059035 rs146542168	653	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7059067 rs771270275	658	A>S		No	ClinGen ExAC TOPMed gnomAD
CA388780129 rs771270275	658	A>T		No	ClinGen ExAC TOPMed gnomAD
rs867885814 CA256481197	658	A>V		No	ClinGen gnomAD
rs776338234 CA7059072	659	A>E		No	ClinGen ExAC TOPMed gnomAD
rs760158165 CA7059070	659	A>S		No	ClinGen ExAC TOPMed gnomAD
CA7059069 rs760158165	659	A>T		No	ClinGen ExAC TOPMed gnomAD
rs776338234 CA7059071	659	A>V		No	ClinGen ExAC TOPMed gnomAD
CA388780189 rs1240098062	661	M>I		No	ClinGen gnomAD
CA388780244 rs1178196080	664	P>S		No	ClinGen gnomAD
rs1478915082 CA388780271	666	M>I		No	ClinGen TOPMed
rs201634776 CA7059076	668	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388780302 rs1204368766	669	L>F		No	ClinGen TOPMed
CA7059079 rs781098186	673	G>D		No	ClinGen ExAC gnomAD
CA7059080 rs748294925	675	H>P		No	ClinGen ExAC gnomAD
CA7059081 rs182260800	676	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1302388170 CA388780370	678	K>T		No	ClinGen gnomAD
CA7059082 rs777875371	679	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1222145570 CA388780378	679	D>V		No	ClinGen gnomAD
rs777875371 CA388780375	679	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA388780384 rs1278252713	680	V>F		No	ClinGen TOPMed
CA388780429 rs1458230912	686	E>A		No	ClinGen gnomAD
rs1594975068 CA388780446	688	I>S		No	ClinGen Ensembl
rs774902502 CA7059085	689	Y>C		No	ClinGen ExAC gnomAD
CA388780474 rs1324353181	692	H>Y		No	ClinGen TOPMed
rs1191613064 CA388780481	693	N>D		No	ClinGen gnomAD
rs746219258 CA7059086	694	R>W		No	ClinGen ExAC gnomAD
CA7059119 rs772659493	695	I>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	698	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772578655 CA7059120	699	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1486047077 CA388780534	699	E>K		No	ClinGen TOPMed gnomAD
CA7059121 rs757213665	703	Y>C		No	ClinGen ExAC gnomAD
rs779286020 CA7059122	704	T>P		No	ClinGen ExAC TOPMed gnomAD
rs979041110 CA256481971	706	C>F		No	ClinGen Ensembl
TCGA novel	708	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1232895506 CA388780604	709	L>V		No	ClinGen TOPMed
CA7059123 rs750624260	714	F>L		No	ClinGen ExAC gnomAD
rs947620519 CA256481979	715	L>V		No	ClinGen TOPMed
CA388780653 rs1246122679	716	E>D		No	ClinGen TOPMed
CA388780646 rs1441140606	716	E>K		No	ClinGen gnomAD
rs758863800 CA7059125	717	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7059124 rs758863800	717	R>T		No	ClinGen ExAC gnomAD
rs1260718269 CA388780750	718	M>V		No	ClinGen gnomAD
rs367816724 CA7059150	719	E>K		No	ClinGen ESP ExAC gnomAD
rs2281723 CA388780839	724	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1249434622 CA388780841	725	E>K		No	ClinGen gnomAD
CA256482387 rs201890906	726	K>Q		No	ClinGen 1000Genomes
CA7059153 rs771776117	733	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7059154 rs774936427	733	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs761881625 CA7059158	741	C>F		No	ClinGen ExAC gnomAD
rs1348608224 CA388781065	741	C>W		No	ClinGen TOPMed
CA7059160 rs150220613	743	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA7059161 rs763122027	745	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7059178 rs769920720	750	C>R		No	ClinGen ExAC TOPMed gnomAD
CA388781456 rs1358254634	750	C>Y		No	ClinGen gnomAD
rs1435006313 CA388781482	754	L>M		No	ClinGen TOPMed gnomAD
CA388781490 rs763138412	755	D>A		No	ClinGen ExAC gnomAD
CA7059180 rs763138412	755	D>G		No	ClinGen ExAC gnomAD
CA388781495 rs1206174261	756	H>D		No	ClinGen gnomAD
TCGA novel	756	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7059183 rs759721293	759	S>R		No	ClinGen ExAC gnomAD
CA388781536 rs1594988066	762	S>P		No	ClinGen Ensembl
rs1594988083 CA388781544	763	Y>S		No	ClinGen Ensembl
TCGA novel	765	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1454844396 CA388781579	769	Q>*		No	ClinGen gnomAD
rs1594988169 CA388781618	774	Y>S		No	ClinGen Ensembl
CA7059217 rs770834333	782	L>M		No	ClinGen ExAC gnomAD
rs1428022808 CA388781707	785	S>N		No	ClinGen gnomAD
CA388781714 rs1172167779	786	R>K		No	ClinGen TOPMed gnomAD
CA388781727 rs1231300019	788	C>R		No	ClinGen TOPMed
rs1441026981 CA388781735	789	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1297973213 CA388781743	790	G>R		No	ClinGen gnomAD
rs777037470 CA7059224	798	L>R		No	ClinGen ExAC gnomAD
TCGA novel	799	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388781831 rs1457914124	803	G>D		No	ClinGen TOPMed
rs1396295113 CA388781836	804	I>L		No	ClinGen TOPMed
rs578097205 CA256482996	804	I>M		No	ClinGen Ensembl
rs765665137 CA7059226	807	A>D		No	ClinGen ExAC gnomAD
rs1417624641 CA388781861	808	V>A		No	ClinGen TOPMed
rs767096369 CA7059229	808	V>M		No	ClinGen ExAC gnomAD
CA256483017 rs905475934	812	M>I		No	ClinGen TOPMed
rs755883591 CA7059232	815	I>V		No	ClinGen ExAC gnomAD
rs763829216 CA7059233	816	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	816	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7059234 rs753645601	817	I>V		No	ClinGen ExAC TOPMed gnomAD
CA256483026 rs1053530583	818	T>N		No	ClinGen gnomAD
rs556331202 CA7059236	819	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs947895738	821	D>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA388781948 rs947895738	821	D>E		No	ClinGen gnomAD
TCGA novel	821	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7059237 rs745776300	821	D>N		No	ClinGen ExAC gnomAD
rs760278618 CA7059267	825	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1182546340 CA388782952	826	D>E		No	ClinGen gnomAD
rs143748702 CA7059269	826	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA388783020 rs1476701408	830	L>P		No	ClinGen TOPMed
CA256483513 rs1052941073 TCGA novel	832	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA388783042 rs1211537230	832	M>T		No	ClinGen TOPMed
CA388783072 rs1385038743	834	G>C		No	ClinGen gnomAD
rs868237345 CA256483522	835	S>L		No	ClinGen Ensembl
CA388783104 rs1275905258	836	F>L		No	ClinGen TOPMed
CA388783133 rs1409425872	837	S>N		No	ClinGen gnomAD
rs750299577 CA7059272	838	V>I		No	ClinGen ExAC TOPMed gnomAD
rs766316400 CA7059275	841	D>N		No	ClinGen ExAC TOPMed gnomAD
CA7059276 rs751450973	846	H>R		No	ClinGen ExAC gnomAD
rs755082560 CA7059277	848	K>R		No	ClinGen ExAC gnomAD
rs1277904208 CA388783303	850	K>M		No	ClinGen TOPMed
CA388783304 rs1415966532	850	K>N		No	ClinGen TOPMed
CA7059280 rs756420452	853	A>G		No	ClinGen ExAC
CA7059281 rs777856833	855	F>L		No	ClinGen ExAC gnomAD
CA388783350 rs777856833	855	F>V		No	ClinGen ExAC gnomAD
rs1413962754 CA388783384	858	M>V		No	ClinGen TOPMed
CA7059282 rs749679798	860	R>W		No	ClinGen ExAC TOPMed gnomAD
CA7059286 rs772434144	866	E>K		No	ClinGen ExAC
rs1464222403 CA388783513	867	K>T		No	ClinGen TOPMed
CA7059288 rs761223082	872	C>G		No	ClinGen ExAC gnomAD
rs769490761 CA7059289	879	G>R		No	ClinGen ExAC
CA7059290 rs772681346	880	E>*		No	ClinGen ExAC gnomAD
rs762758514 CA7059291	881	G>R		No	ClinGen ExAC
rs1595001139 CA388783762	882	Y>D		No	ClinGen Ensembl
rs1302447983 CA388783827	885	A>V		No	ClinGen gnomAD
rs1476156601 CA388783831	886	P>A		No	ClinGen TOPMed
TCGA novel	886	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM3688623 CA7059292 rs766123730	889	S>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs767344772 CA7059295	892	Q>H		No	ClinGen ExAC gnomAD
CA7059294 rs759521210	892	Q>R		No	ClinGen ExAC gnomAD
rs752892445 CA7059296	895	N>H		No	ClinGen ExAC gnomAD
CA388783983 rs1437877817	895	N>S		No	ClinGen TOPMed
rs1595003031 CA388784063	896	M>R		No	ClinGen Ensembl
CA388784086 rs1265393249	898	A>V		No	ClinGen gnomAD
CA7059327 rs777313549	899	V>I		No	ClinGen ExAC TOPMed gnomAD
CA388784118 rs201162083	901	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7059328 rs201162083	901	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770639443 CA7059329	902	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA388784176 rs745692431	904	N>K		No	ClinGen ExAC TOPMed gnomAD
rs201499217 CA7059332	905	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs775533280 CA7059333	906	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1362675002 CA388784299	912	F>L		No	ClinGen gnomAD
rs1317635526 CA388784316	913	E>K		No	ClinGen TOPMed gnomAD
rs1317635526 CA388784318	913	E>Q		No	ClinGen TOPMed gnomAD
rs760575369 CA7059334	916	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA7059336 rs201538160	918	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs761914469 CA7059337	918	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1566875775 CA388784441	919	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs758821476 CA7059340	920	E>K		No	ClinGen ExAC TOPMed gnomAD
rs775143779 CA256483815	921	E>Q		No	ClinGen Ensembl
rs143370145 CA256483821	924	I>V		No	ClinGen ESP TOPMed gnomAD
rs199551610 CA7059343	925	V>I		No	ClinGen ExAC TOPMed gnomAD
CA388784535 rs199551610	925	V>L		No	ClinGen ExAC TOPMed gnomAD
rs751937624 CA388784611	927	A>E		No	ClinGen ExAC gnomAD
CA7059359 rs766610547	927	A>S		No	ClinGen ExAC gnomAD
CA7059360 rs751937624	927	A>V		No	ClinGen ExAC gnomAD
TCGA novel	928	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7059364 rs372881311	931	E>A		No	ClinGen ESP ExAC gnomAD
rs753156751 CA7059363	931	E>K		No	ClinGen ExAC TOPMed gnomAD
CA256484153 rs753156751	931	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA7059367 rs369943277	935	A>S		No	ClinGen ExAC TOPMed gnomAD
CA7059366 rs369943277	935	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7059368 rs779688395	935	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA388784714 rs1179749713	938	N>H		No	ClinGen Ensembl
CA256484175 rs909454423	938	N>S		No	ClinGen Ensembl
CA7059370 rs768521064	941	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs867793427 CA256484177 COSM1586873	941	R>W	large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1481372663 CA388784765	942	K>E		No	ClinGen gnomAD
CA388784796 rs1407031131	945	T>P		No	ClinGen TOPMed
rs1407031131 CA388784799	945	T>S		No	ClinGen TOPMed
CA388784852 rs1427917634	949	Q>H		No	ClinGen TOPMed gnomAD
rs1595007352 CA388784866	951	C>G		No	ClinGen Ensembl
CA388784871 rs1431116904	951	C>Y		No	ClinGen gnomAD
CA388784891 rs1172033106	953	E>K		No	ClinGen gnomAD
CA388784961 rs1186229843	955	S>I		No	ClinGen gnomAD
rs1186229843 CA388784960	955	S>T		No	ClinGen gnomAD
CA388784992 rs1202781594	957	H>Q		No	ClinGen gnomAD
CA7059403 rs765953097	957	H>R		No	ClinGen ExAC gnomAD
CA388784994 rs751090894	958	R>G		No	ClinGen ExAC TOPMed gnomAD
rs754735255 CA7059405 COSM1586871	958	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs751090894 CA7059404	958	R>W		No	ClinGen ExAC TOPMed gnomAD
CA7059406 rs565147618	959	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA388785018 rs1213586828	960	L>R		No	ClinGen gnomAD
CA388785079 rs1251563738	965	S>N		No	ClinGen gnomAD
rs1218997932 CA388785097	966	L>R		No	ClinGen TOPMed
CA388785100 rs1566877745	967	P>A		No	ClinGen Ensembl
rs779103260 CA7059412	969	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1284376087 CA388785122	969	P>T		No	ClinGen gnomAD
rs772282948 CA7059414	971	P>L		No	ClinGen ExAC gnomAD
rs772282948 CA388785151	971	P>Q		No	ClinGen ExAC gnomAD
rs747395065 CA7059416	972	T>N		No	ClinGen ExAC TOPMed gnomAD
CA256484331 rs1055718219	973	S>N		No	ClinGen gnomAD
rs776828901 CA7059418	974	T>A		No	ClinGen ExAC gnomAD
rs1413300081 CA388785169	974	T>I		No	ClinGen gnomAD
rs776828901 CA388785165	974	T>P		No	ClinGen ExAC gnomAD
rs1280835995 CA388785476	976	P>L		No	ClinGen gnomAD
CA388785494 rs1452297368	979	G>E		No	ClinGen gnomAD
TCGA novel	981	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767593475 CA256484786	982	R>K		No	ClinGen Ensembl
CA388785514 rs1324952136	982	R>S		No	ClinGen TOPMed
CA7059443 rs775112710	984	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1168999772 CA388785531	985	K>E		No	ClinGen gnomAD
rs1453605039 CA388785535	985	K>M		No	ClinGen TOPMed
CA388785545 rs1389262989	986	K>N		No	ClinGen gnomAD
CA7059444 rs760427532	990	R>K		No	ClinGen ExAC gnomAD
rs1334387358 CA388785590	993	D>A		No	ClinGen TOPMed
rs752687768 CA256484791	993	D>E		No	ClinGen TOPMed gnomAD
rs1334387358 CA388785591	993	D>G		No	ClinGen TOPMed
CA388785612 rs139444736	996	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1327836301 CA388785627	999	G>*		No	ClinGen gnomAD
rs750317392 CA388785639	1000	Y>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1000	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs72663547 CA7059450	1001	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7059451 rs72663547	1001	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs72663547 CA7059452	1001	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755294674 CA388785659	1004	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1024460261 CA256484808	1004	A>T		No	ClinGen TOPMed gnomAD
rs755294674 CA7059453	1004	A>V		No	ClinGen ExAC TOPMed gnomAD
CA388785666 rs1184211034	1005	P>L		No	ClinGen gnomAD
rs748560276 CA7059455	1008	K>E		No	ClinGen ExAC TOPMed gnomAD
rs748560276 CA7059456	1008	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA388785687 rs1189406318	1009	P>H		No	ClinGen gnomAD
rs1189406318 CA388785689	1009	P>L		No	ClinGen gnomAD
rs1448976704 CA388785686	1009	P>S		No	ClinGen gnomAD
rs199888522 CA256484818	1011	E>K		No	ClinGen TOPMed gnomAD
rs1330839434 CA388785699	1011	E>V		No	ClinGen TOPMed
CA7059567 rs766760570	1015	G>D		No	ClinGen ExAC gnomAD
CA388785726 rs1395160420	1015	G>S		No	ClinGen TOPMed
CA7059566 rs766760570	1015	G>V		No	ClinGen ExAC gnomAD
rs950600099 CA256488120	1016	W>*		No	ClinGen TOPMed gnomAD
rs760048466 CA7059568	1016	W>C		No	ClinGen ExAC gnomAD
rs767942691 CA7059569	1017	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA388786484 rs1437730483	1018	K>R		No	ClinGen gnomAD
CA7059570 rs369396614	1019	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA7059572 rs764843176	1020	S>F		No	ClinGen ExAC gnomAD
rs764843176 CA388786508	1020	S>Y		No	ClinGen ExAC gnomAD
CA7059573 rs201634018	1022	S>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1209259842 CA388786540	1023	L>Q		No	ClinGen gnomAD
TCGA novel	1024	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7059575 rs376729854	1024	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA256488152 rs952511836	1028	D>G		No	ClinGen Ensembl
CA256488151 rs1026662989	1028	D>N		No	ClinGen Ensembl
rs373733350 CA7059577	1029	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs12429945 CA7059579 CA388786622	1030	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs547927498 CA7059580	1031	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs547927498 CA388786638	1031	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388786658 rs1441005311	1033	S>A		No	ClinGen TOPMed
CA388786682 rs1162090344	1034	S>R		No	ClinGen TOPMed gnomAD
CA256488183 rs867217390	1035	A>E		No	ClinGen Ensembl
rs1324626147 CA388786686	1035	A>T		No	ClinGen TOPMed
CA7059582 rs749547050	1037	E>K		No	ClinGen ExAC gnomAD
CA388786728 rs1426905851	1038	Q>E		No	ClinGen TOPMed
CA7059585 rs377031449	1041	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs774700714 CA7059584	1041	S>T		No	ClinGen ExAC gnomAD
rs372650754 CA7059588	1043	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs749848889 CA388786806	1044	A>S		No	ClinGen ExAC TOPMed gnomAD
CA7059590 rs749848889	1044	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7059592 rs766126600	1046	E>K		No	ClinGen ExAC gnomAD
CA7059593 rs751460704 COSM3813451	1047	D>N	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs370005143 CA7059595	1048	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs370005143 CA7059594	1048	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA256488227 rs560170392	1049	G>R		No	ClinGen TOPMed gnomAD
CA388786874 rs1595043452	1050	L>V		No	ClinGen Ensembl
CA388786904 rs1217238187	1052	P>R		No	ClinGen TOPMed
rs1355297444 CA388786913	1053	K>R		No	ClinGen TOPMed
CA7059597 rs755956476	1054	K>E		No	ClinGen ExAC TOPMed gnomAD
CA388774721 rs1332287687	1057	P>A		No	ClinGen gnomAD
rs866854077 CA256443130	1057	P>Q		No	ClinGen Ensembl
rs750439970 CA7059642	1058	G>C		No	ClinGen ExAC gnomAD
rs1268324695 CA388774760	1061	T>A		No	ClinGen gnomAD
rs1447956581 CA388774763	1061	T>M		No	ClinGen gnomAD
CA388774773 rs1207272921	1062	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1240866230 CA388774769	1062	V>L		No	ClinGen gnomAD
CA7059646 rs367714228	1063	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7059645 rs367714228	1063	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388774790 rs1417218207	1064	A>E		No	ClinGen TOPMed gnomAD
CA388774793 rs1417218207	1064	A>V		No	ClinGen TOPMed gnomAD
CA388774806 rs1161680725	1065	D>E		No	ClinGen TOPMed gnomAD
rs958465746 CA256443191	1066	H>Y		No	ClinGen TOPMed gnomAD
TCGA novel	1067	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs559538608 CA256443196	1067	E>K		No	ClinGen 1000Genomes TOPMed gnomAD
CA388774839 rs1156664146	1068	K>N		No	ClinGen gnomAD
rs1430624824 CA388774843	1069	G>R		No	ClinGen gnomAD
rs748688570 CA7059648	1070	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1391178034 CA388774852	1070	G>R		No	ClinGen TOPMed
CA388774860 rs1311786331	1071	P>A		No	ClinGen gnomAD
CA7059649 rs770365504	1071	P>H		No	ClinGen ExAC gnomAD
rs1431399991 CA388774872	1072	D>E		No	ClinGen TOPMed
CA388774870 rs1177880951	1072	D>G		No	ClinGen TOPMed
rs774002517 CA388774867	1072	D>N		No	ClinGen ExAC gnomAD
rs774002517 CA7059650	1072	D>Y		No	ClinGen ExAC gnomAD
rs1373680404 CA388774880	1073	A>E		No	ClinGen gnomAD
rs745364826 CA7059651	1073	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7059653 rs774981406	1074	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA256443213 rs778665601	1075	R>C		No	ClinGen gnomAD
rs760556135 CA7059654	1075	R>P		No	ClinGen ExAC gnomAD
CA256443230 rs924587033	1076	V>L		No	ClinGen TOPMed gnomAD
CA7059656 rs776358205	1078	S>N		No	ClinGen ExAC gnomAD
rs371497316 CA7059657 CA7059658	1078	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750562138 CA7059659	1079	G>A		No	ClinGen ExAC TOPMed gnomAD
rs750562138 CA388774930	1079	G>E		No	ClinGen ExAC TOPMed gnomAD
rs768269006 CA388774942 CA256443247	1080	D>E		No	ClinGen TOPMed gnomAD
rs917684203 CA256443245	1080	D>G		No	ClinGen gnomAD
CA388774936 rs1426970953	1080	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA388774934 rs1426970953	1080	D>Y		No	ClinGen TOPMed gnomAD
rs766665721 CA7059661	1081	V>A		No	ClinGen ExAC TOPMed gnomAD
CA7059660 rs182853129	1081	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1328939711 CA388774967	1083	E>G		No	ClinGen gnomAD
CA388774978 rs1439536442	1084	L>P		No	ClinGen gnomAD
TCGA novel	1085	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388774980 rs1295418577	1085	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA7059664 rs530497098	1087	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388775693 rs1235412556	1088	G>D		No	ClinGen gnomAD
CA388775702 rs1346341028	1089	D>N		No	ClinGen TOPMed gnomAD
CA388775701 rs1346341028	1089	D>Y		No	ClinGen TOPMed gnomAD
CA7059668 rs756749366	1090	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7059667 rs756749366	1090	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1437503981 CA388775735	1091	G>S		No	ClinGen gnomAD
rs771449609 CA7059670	1093	W>*		No	ClinGen ExAC gnomAD
rs779440993 CA7059689	1095	V>A		No	ClinGen ExAC TOPMed gnomAD
CA256443458 rs958997601	1095	V>L		No	ClinGen Ensembl
CA388775929 rs1325700240	1098	P>L		No	ClinGen gnomAD
rs1368588968 CA388775921	1098	P>S		No	ClinGen TOPMed
CA256443479 rs1025122849	1099	T>I		No	ClinGen TOPMed gnomAD
CA256443481 rs373454262	1101	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA7059690 rs373454262	1101	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA388775993 rs1319571306	1102	K>N		No	ClinGen TOPMed gnomAD
RCV000909131 rs376350190 CA7059691	1103	E>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs780804066 CA7059692	1104	G>C		No	ClinGen ExAC gnomAD
CA388776048 rs1335786450	1105	W>*		No	ClinGen gnomAD
rs140657264 CA7059695	1107	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140657264 CA7059694	1107	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7059697 rs372446369	1108	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA256443515 rs932657044	1109	S>G		No	ClinGen TOPMed
CA388776106 rs1261037952	1109	S>N		No	ClinGen TOPMed gnomAD
rs1307483683 CA388776115	1109	S>R		No	ClinGen TOPMed
rs770834645 CA7059699	1110	S>G		No	ClinGen ExAC gnomAD
rs867942982 CA388776128	1110	S>N		No	ClinGen TOPMed
CA7059698 rs770834645	1110	S>R		No	ClinGen ExAC gnomAD
CA256443520 rs867942982	1110	S>T		No	ClinGen TOPMed
rs1348614939 CA388776146	1111	L>R		No	ClinGen TOPMed
rs1474571134 CA388776162	1112	S>F		No	ClinGen gnomAD
CA388776151 rs1566894069	1112	S>P		No	ClinGen Ensembl
CA7059705 rs767900174	1113	V>F		No	ClinGen ExAC TOPMed gnomAD
rs767900174 CA7059704	1113	V>I		No	ClinGen ExAC TOPMed gnomAD
CA7059703 rs767900174	1113	V>L		No	ClinGen ExAC TOPMed gnomAD
CA388776209 rs1159502581	1114	R>L		No	ClinGen gnomAD
rs764573090 CA7059706	1114	R>W		No	ClinGen ExAC gnomAD
CA388776222 rs1291220607	1115	L>F		No	ClinGen TOPMed
rs779465002 CA7059709	1116	G>C		No	ClinGen ExAC gnomAD
rs751084047 CA7059710	1116	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1414188061 CA388776247	1117	P>L		No	ClinGen TOPMed gnomAD
rs1414188061 CA388776245	1117	P>R		No	ClinGen TOPMed gnomAD
CA7059711 rs754457603	1118	S>F		No	ClinGen ExAC gnomAD
rs1259907246 CA388776269	1119	G>D		No	ClinGen gnomAD
CA388776263 rs1239576508	1119	G>S		No	ClinGen gnomAD
rs747820597 CA7059713	1120	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1250328156 CA388776280	1120	S>P		No	ClinGen TOPMed gnomAD
rs769380256 CA7059714	1122	Q>H		No	ClinGen ExAC gnomAD
CA388776306 rs1212976416	1122	Q>R		No	ClinGen gnomAD
rs777436276 CA7059715	1123	C>W		No	ClinGen ExAC gnomAD
rs1037224252 CA256443589	1123	C>Y		No	ClinGen TOPMed
rs547009109 CA7059716	1124	L>V		No	ClinGen ExAC gnomAD
rs1269567119 CA388776328	1125	S>G		No	ClinGen TOPMed
CA256443609 rs945464893	1125	S>N		No	ClinGen gnomAD
CA388776339 rs770830052	1125	S>R		No	ClinGen ExAC TOPMed gnomAD
CA388776346 rs1488291934	1126	S>N		No	ClinGen TOPMed
CA388776362 rs1188371125	1127	S>L		No	ClinGen Ensembl

No associated diseases with O15068

4 regional properties for O15068

Type	Name	Position	InterPro Accession
domain	CRIB domain	74 - 132	IPR000095
domain	Protein kinase domain	269 - 520	IPR000719
active_site	Serine/threonine-protein kinase, active site	384 - 396	IPR008271
binding_site	Protein kinase, ATP binding site	275 - 298	IPR017441

Functions

		Description
EC Number
Subcellular Localization	[Isoform 5]: Cytoplasm Cell membrane ; Peripheral membrane protein ; Cytoplasmic side ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 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.
endomembrane system	A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles.
extracellular space	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
extrinsic component of cytoplasmic side of plasma membrane	The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to its cytoplasmic surface, but not integrated into the hydrophobic region.
extrinsic component of membrane	The component of a membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

2 GO annotations of molecular function

Name	Definition
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.
phosphatidylinositol binding	Binding to an inositol-containing glycerophospholipid, i.e. phosphatidylinositol (PtdIns) and its phosphorylated derivatives.

3 GO annotations of biological process

Name	Definition
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
positive regulation of Rho protein signal transduction	Any process that activates or increases the frequency, rate or extent of Rho protein signal transduction.
regulation of small GTPase mediated signal transduction	Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q86YR7	MCF2L2	Probable guanine nucleotide exchange factor MCF2L2	Homo sapiens (Human)	SS
O75962	TRIO	Triple functional domain protein	Homo sapiens (Human)	EV
O60229	KALRN	Kalirin	Homo sapiens (Human)	SS
Q86VW2	ARHGEF25	Rho guanine nucleotide exchange factor 25	Homo sapiens (Human)	EV
P10911	MCF2	Proto-oncogene DBL	Homo sapiens (Human)	EV
Q0KL02	Trio	Triple functional domain protein	Mus musculus (Mouse)	SS
A2CG49	Kalrn	Kalirin	Mus musculus (Mouse)	SS
Q64096	Mcf2l	Guanine nucleotide exchange factor DBS	Mus musculus (Mouse)	SS
F1M0Z1	Trio	Triple functional domain protein	Rattus norvegicus (Rat)	SS
P97924	Kalrn	Kalirin	Rattus norvegicus (Rat)	SS
Q63406	Mcf2l	Guanine nucleotide exchange factor DBS	Rattus norvegicus (Rat)	SS
Q1LUA6	trio	Triple functional domain protein	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MFDCWRFILC	KRPGSNSYSS	PQRPNEAKKE	ETDHQIDVSD	VIRLVQDTPE	ATAMATDEIM
70	80	90	100	110	120
HQDIVPLCAA	DIQDQLKKRF	AYLSGGRGQD	GSPVITFPDY	PAFSEIPDKE	FQNVMTYLTS
130	140	150	160	170	180
IPSLQDAGIG	FILVIDRRRD	KWTSVKASVL	RIAASFPANL	QLVLVLRPTG	FFQRTLSDIA
190	200	210	220	230	240
FKFNRDDFKM	KVPVIMLSSV	PDLHGYIDKS	QLTEDLGGTL	DYCHSRWLCQ	RTAIESFALM
250	260	270	280	290	300
VKQTAQMLQS	FGTELAETEL	PNDVQSTSSV	LCAHTEKKDK	AKEDLRLALK	EGHSVLESLR
310	320	330	340	350	360
ELQAEGSEPS	VNQDQLDNQA	TVQRLLAQLN	ETEAAFDEFW	AKHQQKLEQC	LQLRHFEQGF
370	380	390	400	410	420
REVKAILDAA	SQKIATFTDI	GNSLAHVEHL	LRDLASFEEK	SGVAVERARA	LSLDGEQLIG
430	440	450	460	470	480
NKHYAVDSIR	PKCQELRHLC	DQFSAEIARR	RGLLSKSLEL	HRRLETSMKW	CDEGIYLLAS
490	500	510	520	530	540
QPVDKCQSQD	GAEAALQEIE	KFLETGAENK	IQELNAIYKE	YESILNQDLM	EHVRKVFQKQ
550	560	570	580	590	600
ASMEEVFHRR	QASLKKLAAR	QTRPVQPVAP	RPEALAKSPC	PSPGIRRGSE	NSSSEGGALR
610	620	630	640	650	660
RGPYRRAKSE	MSESRQGRGS	AGEEEESLAI	LRRHVMSELL	DTERAYVEEL	LCVLEGYAAE
670	680	690	700	710	720
MDNPLMAHLL	STGLHNKKDV	LFGNMEEIYH	FHNRIFLREL	ENYTDCPELV	GRCFLERMED
730	740	750	760	770	780
FQIYEKYCQN	KPRSESLWRQ	CSDCPFFQEC	QRKLDHKLSL	DSYLLKPVQR	ITKYQLLLKE
790	800	810	820	830	840
MLKYSRNCEG	AEDLQEALSS	ILGILKAVND	SMHLIAITGY	DGNLGDLGKL	LMQGSFSVWT
850	860	870	880	890	900
DHKRGHTKVK	ELARFKPMQR	HLFLHEKAVL	FCKKREENGE	GYEKAPSYSY	KQSLNMAAVG
910	920	930	940	950	960
ITENVKGDAK	KFEIWYNARE	EVYIVQAPTP	EIKAAWVNEI	RKVLTSQLQA	CREASQHRAL
970	980	990	1000	1010	1020
EQSQSLPLPA	PTSTSPSRGN	SRNIKKLEER	KTDPLSLEGY	VSSAPLTKPP	EKGKGWSKTS
1030	1040	1050	1060	1070	1080
HSLEAPEDDG	GWSSAEEQIN	SSDAEEDGGL	GPKKLVPGKY	TVVADHEKGG	PDALRVRSGD
1090	1100	1110	1120	1130
VVELVQEGDE	GLWYVRDPTT	GKEGWVPASS	LSVRLGPSGS	AQCLSSSGKA	HVPRAHP