AiPD: Autoinhibited Protein Database

Q9NR19

Gene name	ACSS2 (ACAS2)
Protein name	Acetyl-coenzyme A synthetase, cytoplasmic
Names	CD163 antigen-like 1, Acetate--CoA ligase, Acetyl-CoA synthetase, ACS, AceCS, Acetyl-CoA synthetase 1, AceCS1, Acyl-CoA synthetase short-chain family member 2, Acyl-activating enzyme, Propionate--CoA ligase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55902
EC number	6.2.1.1: Acid--thiol ligases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-77 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-77 (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 Q9NR19

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9NR19-F1	Predicted				AlphaFoldDB

563 variants for Q9NR19

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA9825604 RCV000755123 rs59088485	496	V>A	Nonsyndromic cleft lip palate [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA408686967 rs1279065589	2	G>E		No	ClinGen TOPMed
CA313463696 rs866610613	2	G>W		No	ClinGen Ensembl
rs868794357 CA313463699	3	L>I		No	ClinGen Ensembl
CA9825123 rs758995393	7	R>Q		No	ClinGen ExAC gnomAD
rs748766067 CA9825122	7	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1365991599 CA408687010	9	R>Q		No	ClinGen gnomAD
rs866522476 CA313463717	10	S>I		No	ClinGen Ensembl
CA408687017 rs1388854975	10	S>R		No	ClinGen TOPMed gnomAD
rs1302623716 CA408687020	11	G>C		No	ClinGen TOPMed gnomAD
rs1376745535 CA408687021	11	G>D		No	ClinGen gnomAD
rs1302623716 CA408687018	11	G>S		No	ClinGen TOPMed gnomAD
rs1157198999 CA408687037	13	G>E		No	ClinGen gnomAD
CA408687033 rs1238070469	13	G>R		No	ClinGen gnomAD
CA408687034 rs1238070469	13	G>W		No	ClinGen gnomAD
rs1349205816 CA408687047	15	R>W		No	ClinGen TOPMed
rs1411440695 CA408687053	16	G>D		No	ClinGen TOPMed
CA313463719 rs1002793627	16	G>S		No	ClinGen TOPMed
rs974483217 CA313463720	17	Q>R		No	ClinGen TOPMed
rs1343172168 CA408687071	19	E>K		No	ClinGen TOPMed gnomAD
CA313463724 rs921573601	20	A>T		No	ClinGen TOPMed gnomAD
rs1221191748 CA408687081	20	A>V		No	ClinGen gnomAD
rs1032387407 CA408687085	21	G>*		No	ClinGen gnomAD
CA408687086 rs1418889032	21	G>E		No	ClinGen gnomAD
rs1032387407 CA313463736	21	G>R		No	ClinGen gnomAD
CA408687089 rs1303664140	22	A>T		No	ClinGen gnomAD
rs1192672353 CA408687117	26	A>V		No	ClinGen gnomAD
CA9825125 rs747486877	27	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1438946661 CA408687119	27	R>W		No	ClinGen gnomAD
CA408687123 rs1400761294	28	S>G		No	ClinGen gnomAD
rs776841902 CA9825127	29	W>C		No	ClinGen ExAC TOPMed gnomAD
rs771388973 CA408687134	29	W>L		No	ClinGen ExAC TOPMed gnomAD
rs771388973 CA9825126	29	W>S		No	ClinGen ExAC TOPMed gnomAD
rs1294423790 CA408687141	30	S>C		No	ClinGen gnomAD
rs1198200704 CA408687138	30	S>P		No	ClinGen TOPMed
rs746111837 CA9825128	32	P>L		No	ClinGen ExAC TOPMed gnomAD
rs940632186 CA313463770	34	E>G		No	ClinGen TOPMed
rs965269016 CA313463774	37	R>G		No	ClinGen gnomAD
rs976733074 CA313463776	37	R>H		No	ClinGen Ensembl
rs775580200 CA9825130	38	S>P		No	ClinGen ExAC gnomAD
CA408687197 rs1227783416	40	H>D		No	ClinGen TOPMed gnomAD
rs921087686 CA313463783	40	H>Q		No	ClinGen TOPMed gnomAD
CA9825131 rs146486104 RCV000962791	42	P>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA408687218 rs1368197605	43	S>W		No	ClinGen Ensembl
rs984380604 CA313463806	45	Q>R		No	ClinGen TOPMed gnomAD
rs909607996 CA313463810	48	R>G		No	ClinGen gnomAD
CA408687252 rs1413396382	49	E>K		No	ClinGen TOPMed
CA408687262 rs1196725581	50	L>Q		No	ClinGen gnomAD
rs1422463906 CA408687268	51	H>P		No	ClinGen TOPMed
rs764139474 CA9825132	52	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1223747729 CA408687279	53	R>C		No	ClinGen gnomAD
CA408687280 rs1470224956	53	R>H		No	ClinGen gnomAD
CA408687288 rs1442118622	54	S>F		No	ClinGen TOPMed
CA313463818 rs895525657	55	V>L		No	ClinGen TOPMed gnomAD
rs1178386329 CA408687308	57	E>D		No	ClinGen TOPMed
rs1456746771 CA408687319	59	R>Q		No	ClinGen TOPMed
CA408688018 rs1483937871	61	F>L		No	ClinGen gnomAD
CA408688087 rs1188279477	65	I>V		No	ClinGen gnomAD
rs757644302 CA9825145	67	K>T		No	ClinGen ExAC gnomAD
CA408688150 rs1441715187	68	E>A		No	ClinGen TOPMed
rs781621444 CA9825146	68	E>Q		No	ClinGen ExAC gnomAD
CA9825147 rs746176589	69	F>C		No	ClinGen ExAC gnomAD
rs1420867059 CA408688235	71	W>*		No	ClinGen gnomAD
CA408688257 rs1354566383	72	K>N		No	ClinGen TOPMed gnomAD
rs1338712729 CA408688266	73	T>A		No	ClinGen TOPMed
CA408688345 rs1453477111	76	P>S		No	ClinGen TOPMed
CA408688378 rs1443809525	77	G>V		No	ClinGen gnomAD
CA408688389 rs1405208734	78	P>A		No	ClinGen TOPMed
CA408688450 rs57031852	81	R>P		No	ClinGen TOPMed gnomAD
CA313466690 rs57031852	81	R>Q		No	ClinGen TOPMed gnomAD
CA9825149 rs60379405	81	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs768784749 CA313466692	82	Y>C		No	ClinGen ExAC gnomAD
CA9825150 rs768784749	82	Y>F		No	ClinGen ExAC gnomAD
TCGA novel	82	Y>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408688563 rs1468271250	86	V>E		No	ClinGen TOPMed
CA9825151 rs768795451	86	V>M		No	ClinGen ExAC TOPMed gnomAD
rs761827348 CA9825153 COSM1632254 COSM1632253	88	K>E	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA408688619 rs1601283737	90	K>E		No	ClinGen Ensembl
rs771840227 CA9825154	91	I>T		No	ClinGen ExAC gnomAD
CA408688690 rs4911163	92	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139489319 CA9825156	93	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1243022183 CA408688723	94	E>K		No	ClinGen TOPMed
rs766242037 CA9825157	96	M>I		No	ClinGen ExAC gnomAD
rs1157485038 CA408688781	96	M>V		No	ClinGen Ensembl
rs1210933452 CA408688834	98	G>A		No	ClinGen gnomAD
CA313466710 rs987971608	98	G>R		No	ClinGen Ensembl
CA313466729 rs60636358	105	Y>H		No	ClinGen Ensembl
rs57226725 CA9825161	107	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs976434947 CA313466747	110	R>*		No	ClinGen TOPMed gnomAD
rs976434947 CA408689092	110	R>G		No	ClinGen TOPMed gnomAD
CA9825163 rs757812388 COSM273858	110	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1319211666 CA408689142	112	V>I		No	ClinGen TOPMed gnomAD
CA9825165 rs370742820	113	H>R		No	ClinGen ExAC TOPMed gnomAD
CA9825164 rs781504991	113	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA408689186 rs1398746062	114	E>D		No	ClinGen TOPMed
CA408689175 rs1369586635	114	E>Q		No	ClinGen gnomAD
TCGA novel	116	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	119	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs140291665 CA9825166	119	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs780393103 CA9825167	121	V>A		No	ClinGen ExAC gnomAD
rs144026390 CA9825168	122	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768811930 CA9825170	124	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA408689364 rs1185661730	125	W>R		No	ClinGen TOPMed gnomAD
rs1464122167 CA408687707	126	E>G		No	ClinGen gnomAD
CA9825199 rs758470721	128	N>K		No	ClinGen ExAC gnomAD
CA9825198 rs149416954	128	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777891247 CA9825200	130	P>S		No	ClinGen ExAC gnomAD
rs746957154 CA9825201	131	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1352542401 CA408687738	131	G>R		No	ClinGen TOPMed gnomAD
CA408687741 rs1383096487	132	E>K		No	ClinGen gnomAD
TCGA novel	132	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA313461692 rs112876003	133	T>A		No	ClinGen TOPMed gnomAD
CA313461702 rs374812849	136	I>F		No	ClinGen ESP ExAC gnomAD
CA9825202 rs374812849	136	I>V		No	ClinGen ESP ExAC gnomAD
CA9825203 rs776598687	141	L>F		No	ClinGen ExAC gnomAD
rs1416244213 CA408687818	143	V>G		No	ClinGen TOPMed
COSM1411336 CA408687813 rs1281210208 COSM1411337	143	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1355492547 CA408687825	144	Q>H		No	ClinGen TOPMed
rs1406369402 CA408687819	144	Q>K		No	ClinGen Ensembl
rs183847650 CA313461722	146	C>Y		No	ClinGen 1000Genomes
CA408687842 rs1262677546	147	Q>*		No	ClinGen gnomAD
CA9825206 rs369200323	147	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369200323 CA408687844	147	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA408687853 rs1205450854	148	F>L		No	ClinGen gnomAD
rs1266608902 CA408687856	149	S>G		No	ClinGen TOPMed gnomAD
CA9825207 rs562270723	150	N>S		No	ClinGen ExAC TOPMed gnomAD
CA9825208 rs530201978	153	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763781277 CA9825209	153	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs761178819 CA9825210	154	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1427036847 CA408687912	156	G>D		No	ClinGen gnomAD
rs766834295 CA9825211	156	G>R		No	ClinGen ExAC gnomAD
rs761266966 CA9825227	157	I>T		No	ClinGen ExAC gnomAD
CA9825230 rs57262888	159	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs766981173 CA9825229	159	K>T		No	ClinGen ExAC gnomAD
CA9825231 rs760019903	160	G>R		No	ClinGen ExAC gnomAD
CA9825232 rs765529559	161	D>N		No	ClinGen ExAC TOPMed gnomAD
rs753037922 CA9825233	162	R>*		No	ClinGen ExAC TOPMed gnomAD
CA9825234 rs370686336	162	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs764326377 CA9825235	165	I>V		No	ClinGen ExAC gnomAD
rs377726493 CA9825236	167	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA408687991 rs1242168960	168	P>S		No	ClinGen TOPMed
rs757455210 CA9825237	169	M>V		No	ClinGen ExAC gnomAD
CA313461907 rs939230074	172	E>D		No	ClinGen TOPMed gnomAD
CA9825238 rs781417915	173	L>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	173	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	173	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA313461908 rs781417915	173	L>V		No	ClinGen ExAC TOPMed gnomAD
CA408688103 rs1402973410	175	V>M		No	ClinGen Ensembl
rs1202349667 CA408688184	179	A>T		No	ClinGen gnomAD
CA408688220 rs750444426	180	C>S		No	ClinGen ExAC gnomAD
rs750444426 CA9825239	180	C>Y		No	ClinGen ExAC gnomAD
CA9825240 COSM1580416 rs112012777 COSM1580415	181	A>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA313461911 rs956006658	182	R>C		No	ClinGen TOPMed gnomAD
COSM1244173 COSM1244172 CA313461915 rs946609628	182	R>H	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA408688264 rs946609628	182	R>L		No	ClinGen TOPMed gnomAD
CA9825241 rs575752611	183	I>T		No	ClinGen ExAC TOPMed gnomAD
rs749073668 CA9825242	185	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1423542078 CA408688373	187	H>N		No	ClinGen gnomAD
CA9825243 rs768218171	189	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9825273 rs774798428	191	F>L		No	ClinGen ExAC gnomAD
rs1218133018 CA408688699	192	A>S		No	ClinGen gnomAD
CA9825275 rs371982555	195	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA9825274 rs371982555	195	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1188090775 CA408688804	197	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA9825277 rs143832046	200	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs753868628 CA9825279	202	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9825278 rs766341618	202	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1199256301 CA408688929	203	I>T		No	ClinGen TOPMed
CA408688978 rs1243216473	205	D>E		No	ClinGen gnomAD
CA408689100 rs1192307164	211	L>F		No	ClinGen gnomAD
rs1192307164 CA408689088	211	L>V		No	ClinGen gnomAD
rs752445483 CA9825282	212	I>M		No	ClinGen ExAC gnomAD
rs765017042 CA9825281	212	I>V		No	ClinGen ExAC TOPMed gnomAD
rs758068442 CA9825283	213	T>I		No	ClinGen ExAC
CA408689167 rs1158301843	214	T>R		No	ClinGen gnomAD
CA313462346 rs777958660	215	D>G		No	ClinGen Ensembl
TCGA novel	217	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1408505525 CA408689867	218	Y>C		No	ClinGen gnomAD
rs1159351175 CA408689862	218	Y>H		No	ClinGen TOPMed gnomAD
CA313462355 rs1035141067	219	R>G		No	ClinGen Ensembl
rs751285866 CA9825303	221	E>D		No	ClinGen ExAC gnomAD
TCGA novel	221	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9825302 rs763870941	221	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9825301 rs758227933	221	E>K		No	ClinGen ExAC TOPMed gnomAD
CA408689947 rs1444004108	224	V>E		No	ClinGen gnomAD
CA408689942 rs1333475263	224	V>M		No	ClinGen gnomAD
rs57043611 CA313462390	225	N>Y		No	ClinGen Ensembl
rs756804664 CA9825304	228	E>Q		No	ClinGen ExAC gnomAD
rs1334643686 CA408690011	228	E>V		No	ClinGen gnomAD
rs745330850 CA9825306	230	A>P		No	ClinGen ExAC gnomAD
CA9825307 rs148166087	231	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772634638 CA9825310	232	E>D		No	ClinGen ExAC TOPMed gnomAD
CA9825309 rs748637375	232	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA408690075 rs1182850525	233	A>D		No	ClinGen gnomAD
CA9825311 rs140958101	235	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9825312 rs568860603	235	Q>P		No	ClinGen ExAC gnomAD
TCGA novel	237	C>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408690132 rs1419950372	237	C>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9825313 rs771014417	238	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA9825331 rs747283889	241	G>S		No	ClinGen ExAC TOPMed gnomAD
rs962936073 CA313462579	241	G>V		No	ClinGen TOPMed
rs1167920499 CA408690270	243	P>L		No	ClinGen TOPMed gnomAD
CA313462597 rs201802207	243	P>S		No	ClinGen Ensembl
CA313462596 rs201802207	243	P>T		No	ClinGen Ensembl
CA408690292 rs1365243073	246	C>R		No	ClinGen TOPMed
CA408690313 rs1432542079	248	I>T		No	ClinGen TOPMed gnomAD
rs769918130 CA9825335	250	V>I		No	ClinGen ExAC gnomAD
CA408690330 rs1294090201	251	K>R		No	ClinGen gnomAD
CA408690339 rs61014667	252	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146376566 CA313462626	252	H>Y		No	ClinGen ESP TOPMed gnomAD
CA9825339 rs201041169	255	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs768438688 CA9825338	255	R>W		No	ClinGen ExAC TOPMed gnomAD
CA9825340 rs761566182	256	A>T		No	ClinGen ExAC gnomAD
rs1012769449 CA313462643	257	E>G		No	ClinGen TOPMed gnomAD
rs202132151 CA313462659	259	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs202132151 CA9825342	259	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9825343 rs760393289	260	M>R		No	ClinGen ExAC
rs765988627 CA9825344	261	G>V		No	ClinGen ExAC
CA9825345 rs753356876	262	D>A		No	ClinGen ExAC gnomAD
CA9825348 rs778189150 CA9825347	262	D>E		No	ClinGen ExAC
CA9825346 rs753356876	262	D>V		No	ClinGen ExAC gnomAD
rs1408664569 CA408690396	263	S>F		No	ClinGen TOPMed gnomAD
CA9825349 rs757629914	263	S>P		No	ClinGen ExAC gnomAD
rs746101673 CA9825352	264	T>I		No	ClinGen ExAC gnomAD
rs200209765 CA9825350	264	T>P		No	ClinGen ExAC gnomAD
CA313462767 rs1052317790	267	S>C		No	ClinGen TOPMed
CA408690420 rs1300807970	267	S>P		No	ClinGen gnomAD
rs769938114 CA9825355	268	P>L		No	ClinGen ExAC gnomAD
rs745681981	269	P>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs780140788 CA9825356	269	P>T		No	ClinGen ExAC gnomAD
rs1175161715 CA408690435	270	I>V		No	ClinGen gnomAD
CA408690460 rs1453512795	273	S>L		No	ClinGen gnomAD
CA9825357 rs749319988	273	S>P		No	ClinGen ExAC gnomAD
CA9825361 rs761807252	275	P>L		No	ClinGen ExAC
CA9825359 rs774197909	275	P>S		No	ClinGen ExAC gnomAD
rs770905099 CA9825402	279	I>N		No	ClinGen ExAC gnomAD
rs374284589 CA9825404	281	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs776510598 CA9825403	281	W>R		No	ClinGen ExAC gnomAD
rs1600350212 CA408691161	282	N>K		No	ClinGen Ensembl
CA408691177 rs1568996276	283	Q>H		No	ClinGen Ensembl
rs1172539374 CA408691192	284	G>E		No	ClinGen gnomAD
CA408691227 rs1371242711	286	D>E		No	ClinGen gnomAD
CA313465367 rs762110542	286	D>N		No	ClinGen Ensembl
rs377509627 CA9825405	287	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA9825406 rs774885512	288	W>*		No	ClinGen ExAC gnomAD
CA408691245 rs1311270218	288	W>G		No	ClinGen gnomAD
CA408691258 rs1399974860	289	W>G		No	ClinGen TOPMed
rs1338899071 CA408691282	290	H>P		No	ClinGen TOPMed
CA9825407 rs762575072	290	H>Y		No	ClinGen ExAC gnomAD
rs768124613 CA9825408	292	L>F		No	ClinGen ExAC TOPMed gnomAD
CA408691330 rs1212727137	293	M>R		No	ClinGen gnomAD
TCGA novel	300	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000961695 rs61359113 CA9825410	300	C>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1161715064 CA408691464	301	E>G		No	ClinGen TOPMed
CA9825411 rs111590432	301	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1454168130 CA408691478	302	P>R		No	ClinGen gnomAD
rs202225735 CA9825412	302	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766394936 CA9825415	303	E>K		No	ClinGen ExAC TOPMed gnomAD
rs766394936 CA9825414	303	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA9825416 rs758614371	305	C>R		No	ClinGen ExAC gnomAD
CA408691529 rs1476831770	305	C>W		No	ClinGen TOPMed
rs1398837636 CA408691543	307	A>V		No	ClinGen TOPMed gnomAD
rs180979040 CA9825418	308	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1390923351 CA408691568	309	D>N		No	ClinGen gnomAD
CA408691598 rs1172046978	310	P>L		No	ClinGen gnomAD
TCGA novel	310	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1415962714 CA408691681	315	Y>*		No	ClinGen gnomAD
CA408691678 rs1197235782	315	Y>F		No	ClinGen TOPMed
rs745627480 CA9825421	317	S>R		No	ClinGen ExAC gnomAD
rs769454598 CA9825422	323	P>H		No	ClinGen ExAC gnomAD
rs779798790 CA9825423	324	K>N		No	ClinGen ExAC gnomAD
CA9825457 rs771447628	325	G>C		No	ClinGen ExAC gnomAD
CA408692394 rs1284486404	326	V>A		No	ClinGen gnomAD
TCGA novel	326	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777259588 CA9825458	327	V>I		No	ClinGen ExAC gnomAD
CA408692432 rs1219941249	329	T>I		No	ClinGen TOPMed
TCGA novel	329	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs59126805 CA9825459	330	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA313466074 rs149509417	333	Y>C		No	ClinGen ESP TOPMed
rs1325088345 CA408692491	334	M>T		No	ClinGen TOPMed
CA408692487 rs1392308716	334	M>V		No	ClinGen TOPMed gnomAD
rs375929217 CA9825462	336	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA9825461 rs375929217	336	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs200496887 CA9825463	337	V>L		No	ClinGen ExAC gnomAD
CA408692560 rs1333569365	339	T>I		No	ClinGen gnomAD
rs762024810 CA9825465	340	T>I		No	ClinGen ExAC gnomAD
CA9825467 rs60867847	342	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA408692620 rs1355195322	344	V>M		No	ClinGen gnomAD
rs755950285 CA9825468	345	F>V		No	ClinGen ExAC gnomAD
CA313466115 rs904792329	348	H>R		No	ClinGen Ensembl
rs1424206893 CA408692740	352	V>M		No	ClinGen TOPMed
CA408692779 rs1357167868	354	W>C		No	ClinGen gnomAD
CA9825470 rs753593352	356	T>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	358	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408692840 rs1365308488	359	I>V		No	ClinGen Ensembl
TCGA novel	360	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408692916 rs1250767480	363	T>I		No	ClinGen TOPMed
CA9825474 rs201418139	368	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA408693001 rs1185754934	369	T>I		No	ClinGen TOPMed gnomAD
CA9825477 rs770159592	370	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA9825476 rs181102979	370	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9825475 rs376839994	370	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1419452848 CA408693022	371	G>R		No	ClinGen gnomAD
TCGA novel	372	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408693057 rs1234422408	374	A>T		No	ClinGen TOPMed
rs1308225578 CA408693104	377	A>D		No	ClinGen TOPMed gnomAD
CA9825479 rs749720668	377	A>P		No	ClinGen ExAC gnomAD
CA408693107 rs1308225578	377	A>V		No	ClinGen TOPMed gnomAD
CA408693120 rs1301569310	378	T>I		No	ClinGen TOPMed
rs371238578 CA9825481	379	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA9825482 rs761930139	380	V>G		No	ClinGen ExAC
CA408693140 rs1160300983	380	V>I		No	ClinGen gnomAD
CA408693154 rs1341522239	381	L>S		No	ClinGen gnomAD
CA408693243 rs1358612988	383	E>G		No	ClinGen TOPMed
CA9825496 rs374259558	387	T>I		No	ClinGen ESP ExAC gnomAD
rs201529980 CA9825498	388	Y>*		No	ClinGen ExAC gnomAD
CA408693300 rs1345914883	388	Y>H		No	ClinGen gnomAD
rs553401428 CA9825499	389	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1414153201 CA408693317	389	P>S		No	ClinGen TOPMed
rs770989356 CA9825503	391	V>M		No	ClinGen ExAC TOPMed gnomAD
CA313466457 rs1017668331	392	N>S		No	ClinGen TOPMed gnomAD
CA408693365 rs1017668331	392	N>T		No	ClinGen TOPMed gnomAD
CA9825505 rs759408653	393	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9825507 rs1555885983	393	R>H		No	ClinGen Ensembl
CA9825506 rs1555885983	393	R>P		No	ClinGen Ensembl
rs141802801 CA9825509	397	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9825510 rs752393225	397	I>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	399	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA313466473 rs61753541	400	K>E		No	ClinGen Ensembl
rs1166285332 CA408693456	400	K>I		No	ClinGen TOPMed
TCGA novel	401	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9825511 rs146190099	404	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1600354724 CA408693506	407	Y>C		No	ClinGen Ensembl
rs376950557 CA9825512	408	T>A		No	ClinGen ESP ExAC gnomAD
rs370167177 CA9825513	411	T>I		No	ClinGen ESP ExAC gnomAD
CA9825514 rs756784566	412	A>V		No	ClinGen ExAC gnomAD
rs780837244 CA9825515	414	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA313466490 rs58845949	414	R>H		No	ClinGen TOPMed gnomAD
rs754412224 CA9825516	417	M>L		No	ClinGen ExAC gnomAD
CA408693560 rs754412224	417	M>V		No	ClinGen ExAC gnomAD
TCGA novel	422	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9825517 rs755478287	422	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1237982969 CA408693610	424	V>I		No	ClinGen gnomAD
CA9825519 rs748416233	425	T>I		No	ClinGen ExAC gnomAD
CA408693626 rs1331221979	426	K>M		No	ClinGen gnomAD
CA408693644 rs1600355528	427	H>R		No	ClinGen Ensembl
CA313466689 rs923632062	427	H>Y		No	ClinGen TOPMed gnomAD
rs934925605 CA313466717	429	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs753221563 COSM1580417 COSM1580418 CA9825536	429	R>W	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs373884170 CA313466726	430	A>S		No	ClinGen ESP ExAC gnomAD
CA9825539 rs373884170	430	A>T		No	ClinGen ESP ExAC gnomAD
rs757428371 CA9825540	430	A>V		No	ClinGen ExAC gnomAD
CA9825541 rs781270440	431	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs1460702309 CA408693671	432	L>F		No	ClinGen gnomAD
rs970577813 CA313466741	432	L>V		No	ClinGen TOPMed
CA408693674 rs1310053453	433	Q>E		No	ClinGen gnomAD
rs745995258 CA9825542	433	Q>H		No	ClinGen ExAC gnomAD
rs1333937477 CA408693690	435	L>F		No	ClinGen TOPMed
COSM1580419 CA9825543 COSM1580420 rs769832485	435	L>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	438	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408693711 rs775356311	439	G>C		No	ClinGen ExAC gnomAD
rs775356311 CA9825544	439	G>S		No	ClinGen ExAC gnomAD
TCGA novel	440	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9825545 rs577466825	443	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	444	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1163749337 CA408693748	444	P>L		No	ClinGen gnomAD
CA9825547 rs774131612	445	E>*		No	ClinGen ExAC TOPMed gnomAD
CA408693749 rs774131612	445	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA9825548 rs761591395	447	W>*		No	ClinGen ExAC TOPMed gnomAD
rs1395872009 CA408693770	448	L>I		No	ClinGen TOPMed
TCGA novel	450	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753153922 CA9825553 COSM1592562 COSM1026129	452	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs765895564 CA9825552	452	R>W		No	ClinGen ExAC gnomAD
rs1177860432 CA408693856	455	G>D		No	ClinGen TOPMed
CA9825555 rs144061380	456	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9825556 rs144061380	456	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA9825557 rs757594360	456	A>V		No	ClinGen ExAC gnomAD
CA408693873 rs1170749059	457	Q>*		No	ClinGen gnomAD
CA408693871 rs1170749059	457	Q>E		No	ClinGen gnomAD
rs373930264 CA9825558	458	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA9825559 rs746077019	458	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1357205434 CA408693911	460	P>A		No	ClinGen TOPMed gnomAD
rs1357205434 CA408693910	460	P>T		No	ClinGen TOPMed gnomAD
CA313466796 rs150951175	461	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9825561 rs780114513	462	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	463	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408693958 rs1360706307	464	T>A		No	ClinGen gnomAD
TCGA novel	465	F>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1432184379 CA408693986	466	W>*		No	ClinGen gnomAD
CA408693999 rs1309270603	467	Q>E		No	ClinGen TOPMed
rs1435374127 CA408694110	472	G>D		No	ClinGen gnomAD
CA408694108 rs1365252670	472	G>S		No	ClinGen gnomAD
rs1237652976 CA408694126	473	H>Q		No	ClinGen TOPMed
CA9825579 rs753911778	473	H>R		No	ClinGen ExAC gnomAD
CA9825580 rs754979041	474	M>V		No	ClinGen ExAC gnomAD
CA9825581 rs779038706	477	P>R		No	ClinGen ExAC gnomAD
CA9825582 rs200628498	481	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA408694249 rs1327770577	484	M>T		No	ClinGen gnomAD
rs1320135868 CA408694245	484	M>V		No	ClinGen gnomAD
CA9825585 rs746685443	487	G>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	488	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746863807 CA9825602	491	F>S		No	ClinGen ExAC TOPMed gnomAD
CA408694421 rs1452478600	494	F>S		No	ClinGen gnomAD
CA408694432 rs1250867153	495	G>D		No	ClinGen gnomAD
CA408694443 rs1568999425	496	V>I		No	ClinGen Ensembl
rs1184299367 CA408694456	497	A>S		No	ClinGen gnomAD
TCGA novel	497	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA313467159 rs930713244	498	P>S		No	ClinGen TOPMed gnomAD
CA313467173 rs1049574776	500	I>V		No	ClinGen gnomAD
CA9825605 rs745504008	502	N>K		No	ClinGen ExAC gnomAD
rs774923327 CA9825607	504	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA9825609 rs772525484	505	G>R		No	ClinGen ExAC TOPMed gnomAD
CA9825610 rs537752065	506	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA313467224 rs955635187	506	E>Q		No	ClinGen TOPMed
TCGA novel	507	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372652815 CA9825611	507	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA9825612 rs766636356	509	E>Q		No	ClinGen ExAC gnomAD
rs759623142 CA9825614	511	E>D		No	ClinGen ExAC gnomAD
rs59116442 CA9825615	512	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9825616 rs752787424	513	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1227972934 CA408694819	513	E>G		No	ClinGen gnomAD
rs1339810045 CA408694859	515	Y>F		No	ClinGen gnomAD
rs919947840 CA313468138	517	V>M		No	ClinGen TOPMed
TCGA novel	520	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408695823 rs1324465329	521	P>S		No	ClinGen gnomAD
rs1377448000 CA408695872	523	P>L		No	ClinGen gnomAD
rs757084938 CA9825638	526	M>T		No	ClinGen ExAC TOPMed gnomAD
CA408695923 rs1202398973	527	R>C		No	ClinGen TOPMed gnomAD
CA9825639 rs767366802	527	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs375346989 CA313468143	528	T>K		No	ClinGen ESP TOPMed gnomAD
CA9825640 rs60299071	529	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA313468147 rs60299071	529	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1318697771 CA408695973	530	Y>C		No	ClinGen gnomAD
rs1186720435 CA408696001	532	N>S		No	ClinGen gnomAD
rs754546126 CA9825644	534	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9825645 rs370804534	535	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA9825646 rs747577313	535	R>H		No	ClinGen ExAC gnomAD
rs747577313 CA408696067	535	R>L		No	ClinGen ExAC gnomAD
CA9825647 rs771306432	537	E>K		No	ClinGen ExAC gnomAD
CA9825648 rs114973052	538	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1307128288 CA408696141	539	T>A		No	ClinGen TOPMed
CA408696158 rs1465824587	540	Y>C		No	ClinGen gnomAD
rs1265751893 CA408696150	540	Y>D		No	ClinGen gnomAD
CA408696155 rs1465824587	540	Y>S		No	ClinGen gnomAD
CA9825649 rs746286796	543	K>*		No	ClinGen ExAC gnomAD
CA313468193 rs867087873	545	P>L		No	ClinGen TOPMed gnomAD
CA9825650 rs530608402	548	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1376866457 CA408696282	548	Y>H		No	ClinGen TOPMed
CA313468245 rs201826736	551	G>A		No	ClinGen Ensembl
CA9825652 rs763201560	552	D>E		No	ClinGen ExAC TOPMed gnomAD
CA408696343 rs1201538340	552	D>V		No	ClinGen gnomAD
rs768795904 CA9825653	553	G>S		No	ClinGen ExAC gnomAD
rs768719024 CA9825672	553	G>V		No	ClinGen ExAC gnomAD
CA9825674 rs761846257	556	R>Q		No	ClinGen ExAC gnomAD
CA9825673 COSM185800 rs774600970	556	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1283297000 CA408697561	559	D>N		No	ClinGen TOPMed
CA408697595 rs1181773751	561	Y>C		No	ClinGen TOPMed gnomAD
CA9825675 rs772177672	565	T>I		No	ClinGen ExAC TOPMed gnomAD
CA408697668 rs1244663199	566	G>S		No	ClinGen TOPMed
CA9825677 rs779093164	568	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1600368083 CA408697703	568	I>V		No	ClinGen Ensembl
rs1428052681 CA408697728	569	D>V		No	ClinGen gnomAD
CA408697734 rs1342569680	570	D>N		No	ClinGen gnomAD
rs368193617 CA9825681	571	M>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA9825679 rs753593432	571	M>L		No	ClinGen ExAC gnomAD
CA9825680 rs368193617	571	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA408697775 rs1302143681	573	N>S		No	ClinGen gnomAD
CA408697780 rs1164268952	574	V>I		No	ClinGen TOPMed
TCGA novel	576	G>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9825695 rs746967908	580	S>N		No	ClinGen ExAC gnomAD
CA408697839 rs1314536810	581	T>I		No	ClinGen TOPMed gnomAD
rs770899119 CA9825696	582	A>T		No	ClinGen ExAC gnomAD
rs1600369115 CA408697878	587	A>V		No	ClinGen Ensembl
CA408697881 rs1463559405	588	L>F		No	ClinGen TOPMed gnomAD
TCGA novel	588	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs914417974 CA313474351	589	V>A		No	ClinGen TOPMed
TCGA novel	589	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408697902 rs1210855733	591	H>R		No	ClinGen gnomAD
CA9825698 rs759310107	592	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1242849536 CA408697906	592	E>K		No	ClinGen gnomAD
CA408697907 rs1242849536	592	E>Q		No	ClinGen gnomAD
COSM1592560 CA408697913 rs1202966100 COSM1026131	593	A>T	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA408697918 rs1444654828	593	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA9825700 rs775012077	594	V>I		No	ClinGen ExAC TOPMed gnomAD
rs762610058 CA9825701	595	A>G		No	ClinGen ExAC TOPMed gnomAD
CA408697958 rs1410628617	600	V>A		No	ClinGen gnomAD
CA9825702 rs199960234	600	V>M		No	ClinGen ExAC gnomAD
CA9825703 rs45486997	601	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9825704 rs756796073	606	V>A		No	ClinGen ExAC gnomAD
CA408697993 rs1345479489	606	V>M		No	ClinGen gnomAD
rs1600369306 CA408698002	607	K>R		No	ClinGen Ensembl
rs754381719 CA408698008	608	G>D		No	ClinGen ExAC TOPMed gnomAD
CA9825705 rs767041380	608	G>S		No	ClinGen ExAC TOPMed gnomAD
CA9825706 rs754381719	608	G>V		No	ClinGen ExAC TOPMed gnomAD
rs17850882 CA313474397	615	V>F		No	ClinGen Ensembl
rs755363402 CA9825707	616	T>I		No	ClinGen ExAC TOPMed
TCGA novel	616	T>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408698076 rs1327165785	618	C>Y		No	ClinGen gnomAD
rs371439681 CA408698085	619	D>A		No	ClinGen ESP TOPMed
rs371439681 CA313474408	619	D>V		No	ClinGen ESP TOPMed
CA408698088 rs1406777510	620	G>S		No	ClinGen TOPMed
CA408698100 rs1335803848	621	H>Y		No	ClinGen TOPMed
CA9825709 rs748328241	622	T>I		No	ClinGen ExAC gnomAD
CA9825710 rs758594236	625	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1451315074 CA408698196	628	T>N		No	ClinGen gnomAD
rs376823511 CA9825713	629	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA9825715 rs770987285	633	K>R		No	ClinGen ExAC gnomAD
TCGA novel	634	Q>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776619853 CA9825716	634	Q>H		No	ClinGen ExAC gnomAD
rs1361352105 CA408698427	639	I>T		No	ClinGen gnomAD
CA9825726 rs754303246	642	I>T		No	ClinGen ExAC TOPMed gnomAD
CA9825725 rs767129219	642	I>V		No	ClinGen ExAC gnomAD
TCGA novel	643	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1482056196 CA408698512	643	A>V		No	ClinGen gnomAD
rs1183878646 CA408698531	644	T>I		No	ClinGen gnomAD
TCGA novel	645	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755452302 CA9825727	646	D>A		No	ClinGen ExAC gnomAD
rs1364409251 CA408698567	647	Y>H		No	ClinGen TOPMed
rs1179759861 CA408698617	649	Q>R		No	ClinGen gnomAD
TCGA novel	650	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408698674 rs1386644805	652	P>A		No	ClinGen TOPMed gnomAD
CA408698680 rs1424884217	652	P>H		No	ClinGen gnomAD
CA9825730 rs758672345	653	G>A		No	ClinGen ExAC gnomAD
CA9825729 rs141522623	653	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA313474703 rs141522623	653	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1423196225 CA408698737	655	P>S		No	ClinGen Ensembl
CA313474724 rs977249507	657	T>P		No	ClinGen TOPMed
rs778031362 CA9825731	658	R>C	Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9825732 rs200708044	658	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA9825733 rs200708044	658	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs781192715 CA9825734	659	S>L		No	ClinGen ExAC gnomAD
CA9825750 rs566694933	660	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA9825751 rs757422212	663	M>I		No	ClinGen ExAC gnomAD
TCGA novel	663	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408698937 rs1283189673	664	R>W		No	ClinGen TOPMed
TCGA novel	665	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372698999 CA9825752	665	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9825753 rs750558216	666	V>A		No	ClinGen ExAC gnomAD
rs555249896 CA9825757	668	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA9825756 rs199994014	668	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1229262823 CA408699017	669	K>N		No	ClinGen gnomAD
rs60098280 CA313474822	670	I>F		No	ClinGen gnomAD
rs1344300409 CA408699033	670	I>T		No	ClinGen TOPMed gnomAD
rs1264509322 CA408699062	672	Q>H		No	ClinGen gnomAD
rs778789107 CA9825758	672	Q>R		No	ClinGen ExAC gnomAD
CA313474836 rs565890354	678	G>R		No	ClinGen TOPMed gnomAD
CA408699177 rs1448361231	680	M>I		No	ClinGen gnomAD
CA408699169 rs1600371886	680	M>T		No	ClinGen Ensembl
rs1194430223 CA408699188	681	S>F		No	ClinGen gnomAD
TCGA novel	682	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1477355430 CA408699245	687	S>A		No	ClinGen gnomAD
CA408699244 rs1477355430	687	S>P		No	ClinGen gnomAD
rs1282759700 CA408699250	688	V>I		No	ClinGen TOPMed
CA9825763 rs760294223	689	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA408699272 rs1600371982	691	H>P		No	ClinGen Ensembl
CA9825766 rs776073180	695	H>D		No	ClinGen ExAC TOPMed gnomAD
CA408699299 rs776073180	695	H>N		No	ClinGen ExAC TOPMed gnomAD
CA9825765 rs776073180	695	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA9825767 rs59803261	696	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9825768 rs376543322	696	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs762136124 CA9825769	697	C>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	699	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1285068457 CA408699321	699	T>P		No	ClinGen gnomAD

No associated diseases with Q9NR19

4 regional properties for Q9NR19

Type	Name	Position	InterPro Accession
domain	AMP-dependent synthetase/ligase domain	115 - 574	IPR000873
conserved_site	AMP-binding, conserved site	313 - 324	IPR020845
domain	AMP-binding enzyme, C-terminal domain	583 - 661	IPR025110
domain	Acetyl-coenzyme A synthetase, N-terminal domain	47 - 107	IPR032387

Functions

		Description
EC Number	6.2.1.1	Acid--thiol ligases
Subcellular Localization	Cytoplasm, cytosol Cytoplasm Nucleus	Glucose deprivation results in its AMPK-dependent phosphorylation and subsequent nuclear translocation (PubMed:28552616) Phosphorylation at Ser-659, leads to exposure of its nuclear localization signal which is required for its interaction with KPNA1 and subsequent translocation to the nucleus (PubMed:28552616) Found in the cytoplasm in undifferentiated neurons and upon differentiation, translocates to nucleus (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 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.
mitochondrial matrix	The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation.

4 GO annotations of molecular function

Name	Definition
acetate-CoA ligase activity	Catalysis of the reaction: ATP + acetate + CoA = AMP + diphosphate + acetyl-CoA.
AMP binding	Binding to AMP, adenosine monophosphate.
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
propionate-CoA ligase activity	Catalysis of the reaction: ATP + propanoate + CoA = AMP + diphosphate + propanoyl-CoA.

4 GO annotations of biological process

Name	Definition
acetyl-CoA biosynthetic process	The chemical reactions and pathways resulting in the formation of acetyl-CoA, a derivative of coenzyme A in which the sulfhydryl group is acetylated.
acetyl-CoA biosynthetic process from acetate	The chemical reactions and pathways resulting in the formation of acetyl-CoA from acetate, either directly or via acetylphosphate.
ethanol oxidation	An ethanol metabolic process in which ethanol is converted to acetyl-CoA via acetaldehyde and acetate.
lipid biosynthetic process	The chemical reactions and pathways resulting in the formation of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent.

8 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q68CK6	ACSM2B	Acyl-coenzyme A synthetase ACSM2B, mitochondrial	Homo sapiens (Human)	PR
Q08AH3	ACSM2A	Acyl-coenzyme A synthetase ACSM2A, mitochondrial	Homo sapiens (Human)	PR
Q9D2R0	Aacs	Acetoacetyl-CoA synthetase	Mus musculus (Mouse)	PR
Q8K0L3	Acsm2	Acyl-coenzyme A synthetase ACSM2, mitochondrial	Mus musculus (Mouse)	PR
Q9QXG4	Acss2	Acetyl-coenzyme A synthetase, cytoplasmic	Mus musculus (Mouse)	PR
Q9JMI1	Aacs	Acetoacetyl-CoA synthetase	Rattus norvegicus (Rat)	PR
O70490	Acsm2	Acyl-coenzyme A synthetase ACSM2, mitochondrial	Rattus norvegicus (Rat)	PR
Q84P17	AAE18	Probable acyl-activating enzyme 18, peroxisomal	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MGLPEERVRS	GSGSRGQEEA	GAGGRARSWS	PPPEVSRSAH	VPSLQRYREL	HRRSVEEPRE
70	80	90	100	110	120
FWGDIAKEFY	WKTPCPGPFL	RYNFDVTKGK	IFIEWMKGAT	TNICYNVLDR	NVHEKKLGDK
130	140	150	160	170	180
VAFYWEGNEP	GETTQITYHQ	LLVQVCQFSN	VLRKQGIQKG	DRVAIYMPMI	PELVVAMLAC
190	200	210	220	230	240
ARIGALHSIV	FAGFSSESLC	ERILDSSCSL	LITTDAFYRG	EKLVNLKELA	DEALQKCQEK
250	260	270	280	290	300
GFPVRCCIVV	KHLGRAELGM	GDSTSQSPPI	KRSCPDVQIS	WNQGIDLWWH	ELMQEAGDEC
310	320	330	340	350	360
EPEWCDAEDP	LFILYTSGST	GKPKGVVHTV	GGYMLYVATT	FKYVFDFHAE	DVFWCTADIG
370	380	390	400	410	420
WITGHSYVTY	GPLANGATSV	LFEGIPTYPD	VNRLWSIVDK	YKVTKFYTAP	TAIRLLMKFG
430	440	450	460	470	480
DEPVTKHSRA	SLQVLGTVGE	PINPEAWLWY	HRVVGAQRCP	IVDTFWQTET	GGHMLTPLPG
490	500	510	520	530	540
ATPMKPGSAT	FPFFGVAPAI	LNESGEELEG	EAEGYLVFKQ	PWPGIMRTVY	GNHERFETTY
550	560	570	580	590	600
FKKFPGYYVT	GDGCQRDQDG	YYWITGRIDD	MLNVSGHLLS	TAEVESALVE	HEAVAEAAVV
610	620	630	640	650	660
GHPHPVKGEC	LYCFVTLCDG	HTFSPKLTEE	LKKQIREKIG	PIATPDYIQN	APGLPKTRSG
670	680	690	700
KIMRRVLRKI	AQNDHDLGDM	STVADPSVIS	HLFSHRCLTI	Q