AiPD: Autoinhibited Protein Database

Q12979

Gene name	ABR
Protein name	Active breakpoint cluster region-related protein
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:29
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

19-91 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

19-91 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

1 structures for Q12979

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q12979-F1	Predicted				AlphaFoldDB

495 variants for Q12979

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1245741460 CA397520285	3	P>A		No	ClinGen TOPMed gnomAD
rs1157459319 CA397520283	3	P>Q		No	ClinGen TOPMed
rs1157459319 CA397520282	3	P>R		No	ClinGen TOPMed
rs1044492859 CA286745372	4	L>F		No	ClinGen TOPMed
TCGA novel	5	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397520263 rs1293170978	6	H>R		No	ClinGen TOPMed
rs553512508 CA397520257	7	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs553512508 CA8265778	7	R>Q		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA397520250 rs1477867556	8	G>D		No	ClinGen gnomAD
CA286745363 rs893842684	9	L>P		No	TOPMed gnomAD ClinGen
rs1329622318 CA397520237	11	R>C		No	ClinGen TOPMed
CA8265775 rs751457307	11	R>H		No	ClinGen ExAC gnomAD
CA397520210 rs1207544769	15	I>T		No	gnomAD ClinGen
rs1367358201 CA397520213	15	I>V		No	ClinGen gnomAD
rs780283858 CA8265707	21	N>K		No	ExAC gnomAD ClinGen
rs747789522 CA8265708	21	N>S		No	ClinGen ExAC gnomAD
rs1567799019 CA397519152	22	F>L		No	ClinGen Ensembl
rs1288306903 CA397519162	22	F>L		No	ClinGen TOPMed
rs750945345 CA8265705	25	G>R		No	ExAC TOPMed gnomAD ClinGen
rs765728859 CA8265704	26	T>M		No	ClinGen ExAC TOPMed gnomAD
CA397519109 rs753890821	27	D>E		No	ClinGen ExAC TOPMed gnomAD
CA8265701 rs764110029	28	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA397519097 rs1358267196	29	Y>C		No	ClinGen gnomAD
CA8265698 rs759362739	30	D>E		No	ClinGen ExAC TOPMed gnomAD
rs117732533 CA8265699	30	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1321990254 CA397519087	31	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
TCGA novel	32	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774501657 CA8265696	33	G>R		No	ExAC gnomAD ClinGen
rs1042545893 CA286756895	35	E>Q		No	TOPMed ClinGen
CA286756869 rs1008503724	38	K>E		No	ClinGen Ensembl
CA397519020 rs1406307487	40	P>L		No	ClinGen TOPMed gnomAD
CA286756851 rs142677383	40	P>S		No	ClinGen ESP TOPMed gnomAD
CA397519024 rs142677383	40	P>T		No	ESP TOPMed gnomAD ClinGen
rs573239507 CA8265693	41	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA8265692 rs769278427	42	E>G		No	ExAC gnomAD ClinGen
rs1350067450 CA397519014	42	E>K		No	ClinGen TOPMed
TCGA novel	44	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	45	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769785436 CA286756818	47	M>I		No	Ensembl ClinGen
rs747765883 CA8265691	47	M>V		No	ClinGen ExAC TOPMed gnomAD
rs780881065 CA8265690	48	P>L		No	ExAC TOPMed gnomAD ClinGen
rs1342814964 CA397518933	53	S>L		No	ClinGen gnomAD
rs752920858 CA8265682	56	M>V		No	ClinGen ExAC gnomAD
CA8265681 rs767775595	57	S>F		No	ExAC gnomAD ClinGen
rs747920827 CA8265680	58	P>L		No	ExAC gnomAD ClinGen
rs1301700003 CA397518900	59	Q>*		No	ClinGen gnomAD
rs141739875 CA397518896	59	Q>H		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1424536393 CA397518899	59	Q>R		No	ClinGen TOPMed gnomAD
CA397518887 rs1426803554	61	S>G		No	ClinGen gnomAD
CA8265675 rs148044433 COSM1387750	62	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs761378002 CA8265674	63	R>C		No	ClinGen ExAC TOPMed gnomAD
rs776186481 CA397518873	63	R>H		No	ExAC gnomAD ClinGen
rs776186481 CA8265673	63	R>P		No	ExAC gnomAD ClinGen
CA8265672 rs768332132	64	S>I		No	ExAC gnomAD ClinGen
rs369724938 CA8265671	66	G>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8265670 rs376759188	66	G>D		No	ESP ExAC TOPMed gnomAD ClinGen
CA397518856 rs369724938	66	G>S		No	ESP ExAC TOPMed gnomAD ClinGen
CA397518851 rs1351843803	67	G>A		No	ClinGen gnomAD
CA8265665 CA8265666 rs148912251	67	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs148912251 CA8265667	67	G>W		No	ESP ExAC TOPMed gnomAD ClinGen
CA286756618 rs780045390	68	G>E		No	Ensembl ClinGen
rs751794598 CA8265662	69	D>A		No	ClinGen ExAC
rs766403834	69	D>G	Variant assessed as Somatic; 4.875e-05 impact. [NCI-TCGA]	No	NCI-TCGA
CA397518844 rs755275951	69	D>H		No	ExAC TOPMed gnomAD ClinGen
CA397518843 rs755275951	69	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8265663 rs755275951	69	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1359056519 CA397518838	70	G>S		No	ClinGen TOPMed
CA8265660 rs766287106	70	G>V		No	ExAC gnomAD ClinGen
rs765186007 COSM975184 CA8265657	71	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs765186007 CA8265658	71	V>L		No	ClinGen ExAC TOPMed gnomAD
rs761278027 CA8265656	73	P>A		No	ClinGen ExAC gnomAD
rs200197150 CA8265655	73	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA286756568 rs367632894	74	T>P		No	ClinGen ESP TOPMed
CA8265653 rs760322811	75	P>L		No	ClinGen ExAC gnomAD
COSM1520202 CA397518814 rs1353956639	75	P>T	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA8265652 rs775066636	76	P>S		No	ExAC gnomAD ClinGen
rs771344833 CA8265651	77	E>D		No	ExAC gnomAD ClinGen
CA8265650 rs753184815	78	G>A		No	ExAC TOPMed gnomAD ClinGen
rs1199034139 CA397518797	78	G>R		No	gnomAD ClinGen
CA8265649 rs778184872	79	L>M		No	ClinGen ExAC gnomAD
TCGA novel	79	L>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs866285630 CA286756506	80	A>S		No	ClinGen TOPMed gnomAD
COSM1630041 rs866285630 CA397518788	80	A>T	liver [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs967178824 CA286756494	81	P>T		No	ClinGen Ensembl
CA286735148 rs975763782	83	V>L		No	ClinGen Ensembl
CA286735144 rs962601920	84	E>A		No	ClinGen TOPMed
rs767876190 CA8265546	88	G>A		No	ExAC TOPMed gnomAD ClinGen
rs767876190 CA8265547	88	G>V		No	ExAC TOPMed gnomAD ClinGen
CA286735135 rs112754721	91	M>T		No	ClinGen Ensembl
TCGA novel	92	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	96	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1387725 rs1348343552 CA397515259	97	S>L	large_intestine [Cosmic]	No	gnomAD ClinGen cosmic curated
CA286735078 rs140462166	102	S>R		No	ClinGen ESP TOPMed gnomAD
rs547338113 CA286735075	102	S>R		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs765419742 CA8265540	103	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA397515173 rs1319940257	109	Q>H		No	TOPMed gnomAD ClinGen
rs146820192 CA8265536	112	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8265535 rs775482525	114	L>F		No	ClinGen ExAC TOPMed gnomAD
rs780344076 CA8265507	119	P>S		No	ClinGen ExAC gnomAD
COSM437896 CA397513649 rs1274518801	124	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic]	No	gnomAD ClinGen cosmic curated NCI-TCGA
CA397513583 rs1275121267	130	V>M		No	ClinGen TOPMed gnomAD
rs1280818614 CA397513504	135	Q>H		No	ClinGen Ensembl
CA397513471 rs1404889196	138	T>A		No	ClinGen gnomAD
CA397513382 rs764346535	145	D>E		No	ExAC TOPMed gnomAD ClinGen
CA397513352 rs1177500218	149	I>M		No	ClinGen gnomAD
rs760436295 CA8265500	149	I>V		No	ClinGen ExAC gnomAD
rs752559501 CA8265499	154	Y>C		No	ClinGen ExAC gnomAD
rs767382607 CA8265498	157	L>V		No	ClinGen ExAC gnomAD
CA8265497 rs149810087	158	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA397513244 rs1234076741	164	W>L		No	gnomAD ClinGen
TCGA novel rs1201795825 CA397513218	167	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
CA397513224 rs1597769705	167	Q>K		No	Ensembl ClinGen
CA8265495 rs770625027	168	V>I		No	ExAC TOPMed gnomAD ClinGen
CA397513201 rs762524025	170	M>R		No	ClinGen ExAC TOPMed gnomAD
CA8265494 rs762524025	170	M>T		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	172	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8265492 rs769505234	175	Q>R		No	ClinGen ExAC gnomAD
CA8265491 rs747710707	177	L>V		No	ExAC gnomAD ClinGen
TCGA novel	178	A>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs950372697 CA286723135	179	S>T		No	ClinGen TOPMed gnomAD
TCGA novel	180	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	180	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs184612861 CA397512612	182	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs184612861 CA8265465	182	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA397512589 rs1442296253	185	K>I		No	gnomAD ClinGen
CA286723123 rs926047083	187	F>I		No	ClinGen TOPMed
CA397512571 rs1205426601	188	V>L		No	gnomAD ClinGen
CA397512566 rs1228586339	189	D>N		No	TOPMed ClinGen
CA624318473 rs1353663915	193	V>A		No	ClinGen gnomAD
CA397512518 rs1214217161	193	V>I		No	gnomAD ClinGen
rs1343486624 CA397512489	195	L>R		No	TOPMed ClinGen
rs1293195949 CA397512459	198	A>P		No	gnomAD ClinGen
rs1293195949 CA397512455	198	A>T		No	ClinGen gnomAD
rs754864144 CA8265458	201	C>S		No	ClinGen ExAC gnomAD
rs369963768 CA8265457	204	S>A		No	ClinGen ESP ExAC gnomAD
rs1286932500 CA397512334	206	N>K		No	ClinGen gnomAD
CA8265455 rs758358070	206	N>S		No	ClinGen ExAC TOPMed gnomAD
CA397512227 rs1418907371	213	E>D		No	ClinGen gnomAD
TCGA novel	214	E>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs911295690 CA286766787	217	V>M		No	TOPMed ClinGen
CA397520127 rs1331677745	218	K>E		No	ClinGen TOPMed
rs763225920 CA8265427	222	D>N		No	ExAC TOPMed gnomAD ClinGen
CA397520089 rs1392616252	223	S>C		No	gnomAD ClinGen
CA286766782 rs1039759840	225	D>Y		No	ClinGen TOPMed gnomAD
TCGA novel	227	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770182453 CA8265426	228	T>M		No	ClinGen ExAC TOPMed gnomAD
rs770182453 CA8265425	228	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1477272022 CA397520026	232	M>I		No	gnomAD ClinGen
CA397520030 rs1213465126	232	M>T		No	ClinGen TOPMed
CA397519843 rs1204693893	237	Y>*		No	ClinGen gnomAD
CA286762583 rs767566925	242	R>P		No	ExAC TOPMed gnomAD ClinGen
CA8265379 rs767566925	242	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA397519812 rs1567704830	242	R>W		No	ClinGen Ensembl
rs1374085424 CA397519809	243	V>I		No	ClinGen gnomAD
CA8265378 rs759690652	245	R>Q		No	ExAC gnomAD ClinGen
rs759628716 CA8265361	261	H>R		No	ExAC gnomAD ClinGen
CA8265360 rs774620959	262	P>L		No	ExAC gnomAD ClinGen
CA286761806 rs371171124	263	D>Y		No	ESP ClinGen
rs769587173 CA8265356	265	P>A		No	ExAC gnomAD ClinGen
CA397519654 rs1320114447	265	P>L		No	gnomAD ClinGen
rs769587173 CA8265357	265	P>S		No	ExAC gnomAD ClinGen
CA397519613 rs1296203288	272	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
rs779655290 CA8265351	272	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs758130211 CA8265350	274	S>F		No	ClinGen ExAC gnomAD
CA397519590 rs1243704767	276	N>Y		No	TOPMed ClinGen
rs200320950 CA286761777	277	F>L		No	1000Genomes ClinGen
CA397519555 rs1170790426	281	I>V		No	ClinGen gnomAD
CA8265347 rs756479674	282	N>S		No	ExAC gnomAD ClinGen
rs781719678 CA8265345 COSM158833	283	E>K	breast [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
CA286761754 rs1041881758	284	D>N		No	TOPMed ClinGen
rs766375955 CA8265342	286	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ExAC ClinGen NCI-TCGA
rs370800607 CA8265340	288	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8265339 COSM178095 rs761667866	288	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs761667866 CA8265338	288	R>L		No	ExAC TOPMed gnomAD ClinGen
rs566755443 CA8265337	289	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1346045995 CA397519458	296	K>N		No	ClinGen gnomAD
TCGA novel	297	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771659347 CA8265333	298	E>D		No	ClinGen ExAC
rs768956905	299	T>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
COSM1651303 CA397519424 COSM986461 rs1403369396	300	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	gnomAD ClinGen cosmic curated NCI-TCGA
CA397519422 rs1288414926	300	R>Q		No	TOPMed ClinGen
CA397519405 rs1179310609	303	V>M		No	ClinGen gnomAD
CA286759841 rs565986609	306	G>A		No	1000Genomes gnomAD ClinGen
rs565986609 CA397519382	306	G>D		No	ClinGen 1000Genomes gnomAD
rs1461559861 CA397519369	308	L>P		No	ClinGen gnomAD
rs1247707075 CA397519352	311	V>M		No	TOPMed ClinGen
rs1171948549 CA397519320	315	S>F		No	ClinGen gnomAD
CA397519317 rs1198624778	316	R>Q		No	TOPMed gnomAD ClinGen
rs1380234066 CA397519298	319	R>Q		No	TOPMed ClinGen
CA397519300 rs1261297224	319	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM1387715 CA8265303 rs778794313	321	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs942699942 CA286759834	323	L>F		No	TOPMed ClinGen
rs942699942 CA397519275	323	L>V		No	TOPMed ClinGen
rs1350209470 CA397519220	331	A>V		No	TOPMed ClinGen
rs1438348769 CA397519183	336	T>I		No	TOPMed ClinGen
CA8265273 rs765959248	340	K>R		No	ClinGen ExAC gnomAD
CA286757513 rs979875163	341	H>R		No	Ensembl ClinGen
CA8265271 rs376427826	343	Q>E		No	ESP ExAC TOPMed gnomAD ClinGen
rs1487249575 CA397518681	350	I>V		No	ClinGen gnomAD
TCGA novel	352	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1287224005 CA397518663	353	A>T		No	gnomAD ClinGen
rs772380138 CA8265267	356	V>A		No	ClinGen ExAC gnomAD
CA8265268 rs775866326	356	V>L		No	ExAC TOPMed gnomAD ClinGen
CA397518645 rs775866326	356	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1220893785 CA397518631	358	P>S		No	ClinGen gnomAD
TCGA novel	359	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	359	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8265265 rs774689437	360	P>T		No	ClinGen ExAC gnomAD
CA397518616 rs1567691523	361	E>K		No	Ensembl ClinGen
CA397518602 rs2262150	362	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs116573390 CA8265262	363	S>C		No	1000Genomes ExAC gnomAD ClinGen
rs770142607 CA8265261	367	P>R		No	ExAC gnomAD ClinGen
TCGA novel	368	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1031521465 CA286757463	368	Q>P		No	ClinGen Ensembl
TCGA novel	368	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1172525903 CA397518553	370	H>Y		No	gnomAD ClinGen
CA397518521 rs751551730	374	D>E		No	ClinGen ExAC gnomAD
CA397518513 rs779846384	375	H>Q		No	ExAC gnomAD ClinGen
CA397518517 rs1300363445	375	H>Y		No	gnomAD ClinGen
rs967577654 CA286757431	382	M>I		No	TOPMed ClinGen
CA8265255 rs758302898	382	M>V		No	ExAC gnomAD ClinGen
CA286757421 rs997501760	386	A>T		No	Ensembl ClinGen
CA397518433 rs1197675578	386	A>V		No	gnomAD ClinGen
rs749942730 CA8265254	387	L>F		No	ExAC gnomAD ClinGen
CA397518407 rs1259648365	390	E>G		No	ClinGen gnomAD
CA286750116 rs977469246	396	A>D		No	ClinGen Ensembl
CA397517946 rs1175362308	396	A>T		No	gnomAD ClinGen
CA8265233 rs753554883	397	N>S		No	ClinGen ExAC gnomAD
CA286750093 rs1018693116	402	R>Q		No	Ensembl ClinGen
CA286750097 rs979862986	402	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
CA397517898 rs1309789718	403	A>D		No	gnomAD ClinGen
CA397517891 rs370160445	404	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8265230 rs751874199	404	I>T		No	ClinGen ExAC gnomAD
CA8265231 rs760316843	404	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1567672326 CA397517889	405	E>Q		No	Ensembl ClinGen
rs763390696 CA8265228	406	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM2882921 CA8265227 rs773829536 COSM2882922	406	R>H	upper_aerodigestive_tract [Cosmic]	No	ExAC gnomAD ClinGen cosmic curated
CA8265226 rs770031170	410	K>M		No	ClinGen ExAC gnomAD
rs1288296894 CA397517844	411	M>I		No	gnomAD ClinGen
CA8265220 rs552608098	422	S>T		No	ClinGen 1000Genomes ExAC gnomAD
CA8265219 rs534401648	422	S>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1295761896 CA397517744	426	P>L		No	gnomAD ClinGen
rs953182864 CA286750049	430	H>Y		No	Ensembl ClinGen
CA8265217 rs181164986	431	N>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs756819541 CA8265215	432	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM178091 rs200250455 CA286750022	432	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs757864475 CA8265189	436	S>C		No	ClinGen ExAC gnomAD
rs1461888633 CA397517390	446	E>*		No	gnomAD ClinGen
rs1254912323 CA397517322	450	W>C		No	ClinGen TOPMed
CA286749244 rs865963971	453	A>T		No	ClinGen gnomAD
rs367877272 CA8265183	454	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1458910074 CA397517254	455	Q>H		No	gnomAD ClinGen
rs774163265 CA8265182	455	Q>R		No	ExAC gnomAD ClinGen
CA397517249 rs1178227568	456	K>E		No	TOPMed ClinGen
rs1236176339 CA397517223	458	Q>*		No	ClinGen gnomAD
rs1597594563 CA397517202	459	K>E		No	Ensembl ClinGen
rs1158276410 CA397516539	464	A>D		No	TOPMed gnomAD ClinGen
CA8265156 rs542131864	475	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1263838307 CA397516449	478	S>C		No	gnomAD ClinGen
CA397516434 rs1218085010	480	F>C		No	ClinGen gnomAD
CA397516425 rs1189901369	481	K>N		No	gnomAD ClinGen
CA397516394 rs1283104576	486	H>R		No	gnomAD ClinGen
CA397516385 rs1210117948	487	N>T		No	ClinGen gnomAD
rs1437008538 CA397516379	488	I>N		No	ClinGen TOPMed
rs1231868390 CA397516345	493	N>S		No	gnomAD ClinGen
rs771481181	495	D>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs140254855 CA397516305 CA397516306	496	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA286747105 rs895989364	497	D>N		No	ClinGen TOPMed gnomAD
rs895989364 CA397516303	497	D>Y		No	ClinGen TOPMed gnomAD
rs1172696767 CA397516297	498	E>K		No	ClinGen gnomAD
CA8265134 rs773646538	499	S>F		No	ClinGen ExAC TOPMed gnomAD
CA397516284 rs1393630002	500	P>T		No	ClinGen TOPMed
rs1172594390 CA397516274	501	G>A		No	gnomAD ClinGen
rs1478009092 CA397516267	502	L>R		No	ClinGen TOPMed
rs748693757 CA8265132	503	Y>C		No	ExAC TOPMed gnomAD ClinGen
CA8265133 rs573129548	503	Y>H		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA397516202 rs1435336473 COSM145046	510	V>I	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	TOPMed ClinGen cosmic curated NCI-TCGA
rs1322344838 CA397516145	514	K>E		No	ClinGen TOPMed
TCGA novel	514	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs34169260 CA8265128 VAR_057186	517	K>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs758675874 CA8265127	518	Q>K		No	ClinGen ExAC gnomAD
CA8265126 rs750591980	519	S>L		No	ClinGen ExAC gnomAD
CA397516047 rs1232469724	520	A>T		No	ClinGen TOPMed
CA286742655 rs137975056	531	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
COSM2148988 CA397515054 rs1256042037 COSM2148989	532	G>S	central_nervous_system Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1162047435 CA397514969	544	R>G		No	ClinGen TOPMed
CA397514958 rs1459432464	545	D>E		No	TOPMed ClinGen
rs1262700906 CA397514964	545	D>N		No	ClinGen TOPMed gnomAD
rs777008848 CA8265097	546	T>I		No	ExAC TOPMed gnomAD ClinGen
rs545589156 CA397514938	547	A>G		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs545589156 CA8265096	547	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA397514923 rs1474439776 CA397514925	548	E>D		No	TOPMed gnomAD ClinGen
TCGA novel	548	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1234928649 CA397514899	550	K>R		No	gnomAD ClinGen
CA397514879 rs1353420135	551	W>*		No	gnomAD ClinGen
CA397514757 rs1312322759	554	E>K		No	gnomAD ClinGen
rs760013191 CA8265057	556	E>Q		No	ClinGen ExAC gnomAD
CA397514716 rs1376955842	556	E>V		No	ClinGen Ensembl
rs1268993200 CA397514698	558	E>K		No	TOPMed ClinGen
rs1392343056 CA397514613	564	S>A		No	gnomAD ClinGen
rs1392343056 CA397514615	564	S>P		No	gnomAD ClinGen
rs1412625705 CA397514583	567	I>N		No	TOPMed ClinGen
rs773367465 CA8265053	572	K>E		No	ClinGen ExAC gnomAD
CA8265049 rs748358073	579	V>L		No	ExAC ClinGen
rs1473497076 CA397514486	580	N>K		No	ClinGen TOPMed
rs776309356 CA8265047	581	K>R		No	ClinGen ExAC TOPMed gnomAD
CA8265046 rs768473124	582	D>Y		No	ClinGen ExAC gnomAD
rs746989301 CA8265045	583	N>D		No	ClinGen ExAC TOPMed gnomAD
CA8265043 rs758277238	584	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	585	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1409607684 CA397514447	586	I>F		No	ClinGen TOPMed
rs1413547389 CA397514439	587	V>A		No	TOPMed ClinGen
rs542189987 CA8265040	587	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8265038 rs753507914	589	K>N		No	ExAC gnomAD ClinGen
rs1240200180 CA397514425	589	K>R		No	ClinGen gnomAD
rs1305454768 CA397514418	590	I>N		No	gnomAD ClinGen
rs1376620495 CA397514411	591	M>K		No	gnomAD ClinGen
CA397514410 rs1376620495	591	M>T		No	ClinGen gnomAD
CA8265036 rs767814602	597	Q>*		No	ExAC gnomAD ClinGen
CA8264987 rs760937665	599	D>Y		No	ClinGen ExAC gnomAD
rs1414236516 CA397518335	601	Q>H		No	ClinGen gnomAD
CA8264983 rs773956624	603	V>A		No	ExAC gnomAD ClinGen
CA8264984 rs759310881	603	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA397518312 rs1276620298	605	T>N		No	TOPMed ClinGen
rs770902392 CA8264982	606	K>R		No	ClinGen ExAC TOPMed gnomAD
CA286762001 rs769285645	607	N>S		No	gnomAD ClinGen
CA8264981 rs368841815	609	H>Y		No	ClinGen ESP ExAC gnomAD
CA8264980 rs200395437	610	T>M		No	ExAC TOPMed gnomAD ClinGen
CA8264978 rs747841898	612	V>M		No	ClinGen ExAC TOPMed gnomAD
CA397518250 rs1247891711	614	E>G		No	TOPMed ClinGen
CA397518246 rs1471419068	615	M>L		No	ClinGen TOPMed
TCGA novel	615	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397518232 CA397518231 rs141106809	616	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776417075 CA8264977	616	N>S		No	ClinGen ExAC gnomAD
rs746240169 CA8264975	617	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8264942 rs367883541	622	F>Y		No	ESP ExAC TOPMed gnomAD ClinGen
rs1251353428 CA397518165	624	M>I		No	ClinGen TOPMed
CA397518171 rs1389195791	624	M>V		No	gnomAD ClinGen
rs1462543067 CA397518154	626	F>L		No	ClinGen TOPMed gnomAD
rs1462543067 CA397518152	626	F>V		No	TOPMed gnomAD ClinGen
rs1449037249 CA397518141	627	T>I		No	gnomAD ClinGen
rs1166826720 CA397518145	627	T>P		No	ClinGen gnomAD
TCGA novel	628	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776303770 CA8264941	629	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs763675399 CA8264940	629	R>Q		No	ExAC gnomAD ClinGen
CA397518116 rs1179049036	631	M>I		No	ClinGen TOPMed gnomAD
rs760419374 CA8264939	631	M>V		No	ExAC gnomAD ClinGen
rs199603504 CA286761499	632	S>I		No	1000Genomes gnomAD ClinGen
rs138839291 CA8264937	637	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	641	Q>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs79335790 CA286761465	641	Q>E		No	1000Genomes gnomAD ClinGen
CA286761459 rs778887869	641	Q>R		No	ClinGen Ensembl
rs1442412743 CA397518042	642	T>I		No	TOPMed ClinGen
rs1597358774 CA397518041	643	G>S		No	ClinGen Ensembl
CA8264931 rs768587878	646	G>S		No	ClinGen ExAC gnomAD
rs1226279916 CA397518004	648	K>N		No	TOPMed ClinGen
CA397518006 rs1361765760	648	K>R		No	TOPMed ClinGen
CA397517996 rs1429266892	649	I>M		No	ClinGen gnomAD
rs1053331988 CA286761417	650	S>C		No	Ensembl ClinGen
CA397517993 rs537675832	650	S>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs537675832 CA8264930	650	S>N		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA8264928 rs758586333	651	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1376820145 CA397517977	653	T>A		No	gnomAD ClinGen
COSM4139994 rs750218616 CA8264927 COSM4139995	653	T>M	ovary [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
rs1448135482 CA397517972	654	K>E		No	TOPMed ClinGen
CA8264773 rs772320352	655	R>Q		No	ClinGen ExAC gnomAD
rs776045570 CA397517697	655	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs779303661 CA8264771	657	R>C	Variant assessed as Somatic; 4.64e-05 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA8264770 rs757718318	657	R>H		No	ExAC TOPMed gnomAD ClinGen
CA8264768 rs777784810	659	K>T		No	ClinGen ExAC gnomAD
rs367546807 CA8264767	663	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8264764 rs754712200	664	V>A		No	ClinGen ExAC gnomAD
CA8264765 rs372963142	664	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8264763 rs547181906	665	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA397517608 rs1273391318	665	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1201662163 CA397517593	667	C>S		No	ClinGen TOPMed
TCGA novel	669	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397517564 rs1226115460	671	V>G		No	ClinGen gnomAD
rs766229075 CA286759995 CA8264762	671	V>L		No	ExAC TOPMed gnomAD ClinGen
CA397517551 rs1284471446	673	K>R		No	gnomAD ClinGen
CA286759974 rs1035244499	674	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	675	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370318024 COSM1189352 CA8264757	677	E>K	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs370318024 CA8264758	677	E>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA286759929 rs760908673	684	I>V		No	Ensembl ClinGen
CA8264755 rs759825091	686	G>A		No	ClinGen ExAC
CA8264753 rs200785190 COSM1589361 COSM986413	687	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs749775499 CA8264752	688	A>T		No	ClinGen ExAC gnomAD
rs1182628162 CA397517355	689	T>M		No	gnomAD ClinGen
rs769863141 CA8264750	693	A>V		No	ExAC gnomAD ClinGen
rs1335555554 CA397517263	696	A>V		No	TOPMed ClinGen
CA8264746 rs751339591	697	V>I		No	ExAC TOPMed gnomAD ClinGen
CA397517233 rs750354403	699	D>H		No	ExAC TOPMed gnomAD ClinGen
COSM708488 rs750354403 CA8264743 COSM1646868	699	D>N	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs775869569 CA8264711	701	N>S		No	ClinGen ExAC TOPMed gnomAD
CA397517145 rs1473364890	704	D>V		No	gnomAD ClinGen
rs745691043 CA8264709	707	L>R		No	ClinGen ExAC gnomAD
rs1212801531 CA397517108	708	M>I		No	gnomAD ClinGen
rs770657882 CA286758941	708	M>T		No	ClinGen gnomAD
TCGA novel	709	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8264708 rs778803380	710	S>T		No	ExAC TOPMed gnomAD ClinGen
CA397517024 rs1567561265	714	I>M		No	ClinGen Ensembl
rs1229164215 CA397517014	715	N>S		No	ClinGen gnomAD
rs376689300 CA8264705	718	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs1304384646 CA397516955	720	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1567561146 CA397516946	721	L>V		No	Ensembl ClinGen
rs370232881 CA8264701	725	F>L		No	1000Genomes ExAC gnomAD ClinGen
CA8264700 rs750806526	726	R>W		No	ClinGen ExAC gnomAD
CA8264699 rs765563189	728	L>R		No	ExAC ClinGen
rs1460369847 CA397516841	730	E>K		No	ClinGen gnomAD
TCGA novel	730	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8264695 rs201350298	731	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1331364351 CA397516813	732	L>F		No	ClinGen gnomAD
rs1331364351 CA397516815	732	L>I		No	ClinGen gnomAD
rs1567560910 CA397516804	733	L>F		No	ClinGen Ensembl
rs1259062143 CA397516787	734	T>R		No	ClinGen gnomAD
rs1266582845 CA397516782	735	D>Y		No	ClinGen TOPMed
CA8264692 COSM1651307 COSM986405 rs200228390	736	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA397516726 rs1314604359	739	P>L		No	ClinGen TOPMed gnomAD
CA397516729 rs1314604359	739	P>Q		No	TOPMed gnomAD ClinGen
rs1450251042 CA397516697	742	M>L		No	gnomAD ClinGen
CA397516696 rs1450251042	742	M>V		No	gnomAD ClinGen
CA397516657 rs1381915640	745	I>V		No	gnomAD ClinGen
rs762808385 CA8264671	746	A>V		No	ClinGen ExAC gnomAD
TCGA novel	748	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA286757867 rs112557411	753	K>R		No	TOPMed ClinGen
CA397516134 rs1169628654	754	E>K		No	ClinGen gnomAD
CA397516113 COSM1740361 rs1476670673 COSM1740360	755	N>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
CA397516032 rs1239048419	762	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA397516033 rs1239048419	762	R>G		No	ClinGen TOPMed gnomAD
CA286757838 rs947843944	762	R>H		No	TOPMed gnomAD ClinGen
CA286757833 rs866805902	765	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs768149117 CA8264666	768	N>S		No	ExAC gnomAD ClinGen
CA286757826 rs1000829691	769	L>I		No	ClinGen TOPMed
CA397515975 rs1462501757	770	I>F		No	ClinGen TOPMed
CA397515970 rs1269576823	771	T>S		No	ClinGen gnomAD
CA397515958 rs1233302117	772	F>L		No	gnomAD ClinGen
rs1332279418 CA397515956	773	L>I		No	ClinGen gnomAD
CA397515935 rs1299962540	776	L>P		No	ClinGen TOPMed
CA8264661 rs538789271	777	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs904773976 CA286757806	777	E>Q		No	TOPMed ClinGen
CA397515923 rs1395929002	778	H>P		No	ClinGen TOPMed
CA8264638 rs557404617 COSM1611048 COSM1611047	784	E>K	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs919753148 CA286755678	787	P>T		No	TOPMed ClinGen
rs758684367 CA8264636	793	L>P		No	ClinGen ExAC gnomAD
CA397515799 rs1295318968	794	H>N		No	TOPMed ClinGen
CA8264635 rs750604293	795	N>K		No	ExAC gnomAD ClinGen
CA8264633 rs761608419	799	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1389407389 CA397515757	800	F>L		No	gnomAD ClinGen
CA286755645 rs201200681	808	S>A		No	ClinGen 1000Genomes
rs1425780090 CA397515699	810	V>L		No	ClinGen gnomAD
rs374114883 CA8264627	811	E>D		No	ESP ExAC TOPMed gnomAD ClinGen
rs771480321 CA8264628	811	E>K		No	ExAC ClinGen
rs1450702193 CA397515663	815	H>R		No	TOPMed ClinGen
rs1040562685 CA286755624	815	H>Y		No	ClinGen TOPMed gnomAD
rs535062055 CA286755607	817	T>I		No	Ensembl ClinGen
CA8264623 rs781645642	818	S>L		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	819	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8264621 COSM3958994 COSM3958995 rs747439385	820	A>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs1290212782 CA397515603	824	S>F		No	ClinGen gnomAD
CA397515602 rs1247135407	825	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA397515594 rs1318020920	826	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
CA286755568 rs111816976	827	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	Ensembl ClinGen NCI-TCGA
rs145999759 CA286755563	829	A>V		No	ClinGen ESP TOPMed gnomAD
rs1356178583 CA397515535	832	Q>H		No	ClinGen TOPMed gnomAD
CA397515525 rs1388338528	834	L>F		No	TOPMed ClinGen
rs1168189627 CA397515514	836	Y>H		No	gnomAD ClinGen
rs191116738 CA397515480 CA286754813	840	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397515478 rs1425190699	841	P>A		No	gnomAD ClinGen
CA286754802 rs867637236	841	P>H		No	ClinGen gnomAD
rs769136114 CA286754791	842	P>H		No	ExAC gnomAD ClinGen
CA8264603 rs769136114	842	P>R		No	ExAC gnomAD ClinGen
CA397515472 rs1267794219	842	P>S		No	ClinGen gnomAD
rs750897785	843	I>F	Variant assessed as Somatic; 5.682e-05 impact. [NCI-TCGA]	No	NCI-TCGA
rs750897785	843	I>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA397515461 rs1253468577	844	S>A		No	gnomAD ClinGen
CA8264598 rs772563422	844	S>F		No	ExAC TOPMed gnomAD ClinGen
rs978314955 CA286754742	845	F>L		No	TOPMed gnomAD ClinGen
CA8264594 rs757511977	846	A>P		No	ClinGen ExAC TOPMed gnomAD
CA8264595 rs757511977	846	A>T		No	ExAC TOPMed gnomAD ClinGen
CA286754724 rs965620977	850	R>Q		No	TOPMed gnomAD ClinGen
CA8264592 rs373385043	850	R>W		No	ClinGen ExAC TOPMed gnomAD
rs868321988 CA286754709	851	N>K		No	ClinGen Ensembl
rs755872294 CA8264591	851	N>T		No	ExAC gnomAD ClinGen
rs1481241214 CA397515420	851	N>Y		No	ClinGen TOPMed
rs1177937585 CA397515396	855	F>L		No	gnomAD ClinGen
CA397515394 rs1467809649	855	F>Y		No	gnomAD ClinGen
rs1182389765 CA397515386	856	S>Y		No	ClinGen gnomAD
rs1480582957 CA397515375	858	D>G		No	TOPMed gnomAD ClinGen
CA8264587 rs751168415	858	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA286754673 rs751168415	858	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA8264585 rs545347241	859	V>A		No	1000Genomes ExAC gnomAD ClinGen
rs865958326 CA286754660	859	V>L		No	ClinGen TOPMed gnomAD
rs865958326 CA286754661	859	V>M		No	TOPMed gnomAD ClinGen
CA397515363 rs1374161560	860	V>L		No	TOPMed ClinGen

No associated diseases with Q12979

6 regional properties for Q12979

Type	Name	Position	InterPro Accession
domain	C2 domain	484 - 613	IPR000008
domain	Rho GTPase-activating protein domain	647 - 845	IPR000198
domain	Dbl homology (DH) domain	91 - 284	IPR000219
conserved_site	Guanine-nucleotide dissociation stimulator, CDC24, conserved site	232 - 257	IPR001331
domain	Pleckstrin homology domain	301 - 461	IPR001849
domain	Active breakpoint cluster region-related protein, PH domain	277 - 460	IPR037865

Functions

		Description
EC Number
Subcellular Localization	Cell projection, dendritic spine Cell projection, axon Synapse
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
anchoring junction	A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
axon	The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
dendritic spine	A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity.
glutamatergic synapse	A synapse that uses glutamate as a neurotransmitter.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
Schaffer collateral - CA1 synapse	A synapse between the Schaffer collateral axon of a CA3 pyramidal cell and a CA1 pyramidal cell.

2 GO annotations of molecular function

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

4 GO annotations of biological process

Name	Definition
activation of GTPase activity	Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP.
modulation of chemical synaptic transmission	Any process that modulates the frequency or amplitude of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. Amplitude, in this case, refers to the change in postsynaptic membrane potential due to a single instance of synaptic transmission.
regulation of small GTPase mediated signal transduction	Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.
small GTPase mediated signal transduction	The series of molecular signals in which a small monomeric GTPase relays a signal.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q6ZUM4	ARHGAP27	Rho GTPase-activating protein 27	Homo sapiens (Human)	PR
A2AB59	Arhgap27	Rho GTPase-activating protein 27	Mus musculus (Mouse)	PR
Q5SSL4	Abr	Active breakpoint cluster region-related protein	Mus musculus (Mouse)	PR
Q6TLK4	Arhgap27	Rho GTPase-activating protein 27	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MEPLSHRGLP	RLSWIDTLYS	NFSYGTDEYD	GEGNEEQKGP	PEGSETMPYI	DESPTMSPQL
70	80	90	100	110	120
SARSQGGGDG	VSPTPPEGLA	PGVEAGKGLE	MRKLVLSGFL	ASEEIYINQL	EALLLPMKPL
130	140	150	160	170	180
KATATTSQPV	LTIQQIETIF	YKIQDIYEIH	KEFYDNLCPK	VQQWDSQVTM	GHLFQKLASQ
190	200	210	220	230	240
LGVYKAFVDN	YKVALETAEK	CSQSNNQFQK	ISEELKVKGP	KDSKDSHTSV	TMEALLYKPI
250	260	270	280	290	300
DRVTRSTLVL	HDLLKHTPVD	HPDYPLLQDA	LRISQNFLSS	INEDIDPRRT	AVTTPKGETR
310	320	330	340	350	360
QLVKDGFLVE	VSESSRKLRH	VFLFTDVLLC	AKLKKTSAGK	HQQYDCKWYI	PLADLVFPSP
370	380	390	400	410	420
EESEASPQVH	PFPDHELEDM	KMKISALKSE	IQKEKANKGQ	SRAIERLKKK	MFENEFLLLL
430	440	450	460	470	480
NSPTIPFRIH	NRNGKSYLFL	LSSDYERSEW	REAIQKLQKK	DLQAFVLSSV	ELQVLTGSCF
490	500	510	520	530	540
KLRTVHNIPV	TSNKDDDESP	GLYGFLHVIV	HSAKGFKQSA	NLYCTLEVDS	FGYFVSKAKT
550	560	570	580	590	600
RVFRDTAEPK	WDEEFEIELE	GSQSLRILCY	EKCYDKTKVN	KDNNEIVDKI	MGKGQIQLDP
610	620	630	640	650	660
QTVETKNWHT	DVIEMNGIKV	EFSMKFTSRD	MSLKRTPSKK	QTGVFGVKIS	VVTKRERSKV
670	680	690	700	710	720
PYIVRQCVEE	VEKRGIEEVG	IYRISGVATD	IQALKAVFDA	NNKDILLMLS	DMDINAIAGT
730	740	750	760	770	780
LKLYFRELPE	PLLTDRLYPA	FMEGIALSDP	AAKENCMMHL	LRSLPDPNLI	TFLFLLEHLK
790	800	810	820	830	840
RVAEKEPINK	MSLHNLATVF	GPTLLRPSEV	ESKAHLTSAA	DIWSHDVMAQ	VQVLLYYLQH
850
PPISFAELKR	NTLYFSTDV