AiPD: Autoinhibited Protein Database

Q14527

Gene name	HLTF (HIP116A, RNF80, SMARCA3, SNF2L3, ZBU1)
Protein name	Helicase-like transcription factor
Names	DNA-binding protein/plasminogen activator inhibitor 1 regulator, HIP116, RING finger protein 80, RING-type E3 ubiquitin transferase HLTF, SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 3, Sucrose nonfermenting protein 2-like 3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6596
EC number	2.3.2.27: Aminoacyltransferases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

158-231 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

158-231 (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

10 structures for Q14527

Entry ID	Method	Resolution	Chain	Position	Source
2MZN	NMR	-	A	51-171	PDB
4HRE	X-ray	279 A	G/H/K/L	26-39	PDB
4HRH	X-ray	300 A	C/D	26-39	PDB
4S0N	X-ray	150 A	A/B/C/D	55-180	PDB
4XZF	X-ray	138 A	A	58-174	PDB
4XZG	X-ray	240 A	A/B/C/D/E/F/G/H/I	57-174	PDB
5BNH	X-ray	170 A	A/D	55-175	PDB
5K5F	NMR	-	A	51-171	PDB
6KCS	X-ray	210 A	A	58-174	PDB
AF-Q14527-F1	Predicted				AlphaFoldDB

783 variants for Q14527

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA354911612 rs1236776734	3	W>R		No	ClinGen gnomAD
rs1323935780 CA354911578	4	M>I		No	ClinGen gnomAD
rs1335001931 CA354911591	4	M>L		No	ClinGen TOPMed gnomAD
rs1388257797 CA354911571	5	F>I		No	ClinGen gnomAD
CA354911557 rs1559889331	5	F>L		No	ClinGen Ensembl
TCGA novel	6	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2659660 rs748957525	6	K>R		No	ClinGen ExAC gnomAD
rs929539624 CA85514931	7	R>G		No	ClinGen gnomAD
rs1243448379 CA354911362	7	R>S		No	ClinGen gnomAD
CA2659642 rs773798235	8	D>G		No	ClinGen ExAC gnomAD
rs1190422686 CA354911357	8	D>H		No	ClinGen gnomAD
CA85513687 rs981815980	9	P>A		No	ClinGen TOPMed
CA85513668 rs947820613	9	P>L		No	ClinGen Ensembl
CA2659641 rs770455904	10	V>F		No	ClinGen ExAC gnomAD
CA2659639 rs772965159	11	W>*		No	ClinGen ExAC TOPMed gnomAD
CA354911290 rs772965159	11	W>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	15	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1576634222 CA354911207	15	Q>R		No	ClinGen Ensembl
rs747472980 CA2659637	20	G>E		No	ClinGen ExAC gnomAD
CA85513586 rs989587270	22	H>Y		No	ClinGen Ensembl
CA354911071 rs1268269809	23	G>E		No	ClinGen gnomAD
CA2659635 rs772649048	23	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1420352778 CA354911029	26	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
COSM1209784 rs746401140 CA2659634	27	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
rs148566778 CA85513570	27	R>H		No	ClinGen ESP TOPMed
rs757455150 CA2659632	30	Y>C		No	ClinGen ExAC gnomAD
CA354910978 rs11559143	31	P>L		No	ClinGen gnomAD
CA85513548 rs11559143	31	P>R		No	ClinGen gnomAD
CA85513506 rs374007638	33	F>S		No	ClinGen ESP gnomAD
CA85513530 rs759681955	33	F>V		No	ClinGen Ensembl
CA354910927 rs1331648034	36	R>H		No	ClinGen TOPMed gnomAD
CA354910926 rs1331648034	36	R>P		No	ClinGen TOPMed gnomAD
CA85513501 rs61750366	42	V>F		No	ClinGen TOPMed gnomAD
rs755860159 CA2659628	43	I>M		No	ClinGen ExAC gnomAD
rs558512869 CA2659629	43	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA354910809 rs1237542155	44	P>L		No	ClinGen gnomAD
CA85513493 rs865947582	44	P>S		No	ClinGen Ensembl
CA354910789 rs1190048286	46	D>G		No	ClinGen gnomAD
CA85513480 rs978225172	51	S>G		No	ClinGen Ensembl
CA2659626 rs767234268	57	S>P		No	ClinGen ExAC gnomAD
rs1438830457 CA354910610	58	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	59	L>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354910569 rs1271153779	60	F>S		No	ClinGen gnomAD
rs372946042 CA2659624	61	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs765851385 CA2659623	62	S>N		No	ClinGen ExAC gnomAD
CA2659622 rs762506034	63	L>F		No	ClinGen ExAC TOPMed gnomAD
CA2659621 rs772734235	64	R>G		No	ClinGen ExAC gnomAD
TCGA novel	64	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764876584 CA2659620	65	G>D		No	ClinGen ExAC gnomAD
CA2659619 rs761384636	66	H>R		No	ClinGen ExAC gnomAD
rs1332300849 CA354910460	67	V>M		No	ClinGen gnomAD
CA2659617 rs772597752	69	G>A		No	ClinGen ExAC gnomAD
CA354910395 rs1559887695	70	L>P		No	ClinGen Ensembl
rs746348235 CA2659616	71	R>C		No	ClinGen ExAC gnomAD
rs1413943652 CA354910366	72	Y>C		No	ClinGen gnomAD
rs566709250 CA354910309	73	Y>*		No	ClinGen 1000Genomes gnomAD
rs1473912639 CA354910299	74	T>A		No	ClinGen gnomAD
COSM1752959 CA354910293 rs1559887664	74	T>M	urinary_tract [Cosmic]	No	ClinGen cosmic curated Ensembl
CA354910273 rs1454948009	75	G>R		No	ClinGen TOPMed
CA354910219 rs1182731556	76	V>E		No	ClinGen TOPMed gnomAD
rs148931618 CA2659614	76	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761488009 CA2659601	80	N>S		No	ClinGen ExAC gnomAD
CA85506156 rs13091100	83	V>G		No	ClinGen Ensembl
rs767973763 CA2659599	85	L>V		No	ClinGen ExAC TOPMed gnomAD
rs200783692 CA2659598	87	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA354908558 rs1452048359	87	R>Q		No	ClinGen gnomAD
rs901127621 CA85506152	88	D>V		No	ClinGen TOPMed
CA2659596 rs771501750	89	P>R		No	ClinGen ExAC gnomAD
rs1477038945 CA354908518	90	N>D		No	ClinGen TOPMed
rs1178865550 CA354908515	90	N>S		No	ClinGen TOPMed
CA354908501 rs1315698249	91	N>K		No	ClinGen TOPMed gnomAD
rs1438511925 CA354908469	93	Y>*		No	ClinGen TOPMed
rs1306858005 CA354908481	93	Y>H		No	ClinGen gnomAD
CA2659595 rs763388341	94	D>E		No	ClinGen ExAC gnomAD
CA354908442 rs1373562276	95	K>*		No	ClinGen TOPMed gnomAD
rs373511315 CA85506142	96	N>S		No	ClinGen ESP TOPMed gnomAD
CA354908355 rs1438243141	99	K>I		No	ClinGen TOPMed gnomAD
rs1369660600 CA354908288	102	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA354908277 rs1436912000	103	V>M		No	ClinGen gnomAD
rs143354201 CA2659593	105	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs781449206 CA2659591	108	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA354908057 rs1254517723	116	A>V		No	ClinGen Ensembl
rs376542154 CA2659589	117	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs201648572 CA2659587	120	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354908004 rs778457207	121	Y>C		No	ClinGen ExAC gnomAD
rs750359619 CA2659586	121	Y>N		No	ClinGen ExAC gnomAD
rs778457207 CA2659585	121	Y>S		No	ClinGen ExAC gnomAD
CA2659584 rs756768119	122	I>V		No	ClinGen ExAC TOPMed gnomAD
CA354907957 rs1576622538	124	D>G		No	ClinGen Ensembl
rs1279538293 CA354907907	127	L>W		No	ClinGen gnomAD
CA2659582 rs763908817	130	I>S		No	ClinGen ExAC gnomAD
CA354907864 rs1233970092	130	I>V		No	ClinGen gnomAD
rs1206592090 CA354907825	132	G>A		No	ClinGen TOPMed
CA2659566 rs756793557	133	V>I		No	ClinGen ExAC TOPMed gnomAD
CA354907724 rs1413949146	135	P>L		No	ClinGen gnomAD
rs753463193 CA2659565	135	P>T		No	ClinGen ExAC gnomAD
rs1396941938 CA354907712	137	G>D		No	ClinGen gnomAD
CA85504740 rs890855855	138	A>T		No	ClinGen TOPMed gnomAD
rs200515493 CA85504729	140	N>D		No	ClinGen 1000Genomes
rs549292058 CA2659563	140	N>S		No	ClinGen ExAC TOPMed gnomAD
rs373407601 CA2659562	141	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA354907668 rs1187854839	144	M>T		No	ClinGen TOPMed gnomAD
rs766792375 CA2659561	144	M>V		No	ClinGen ExAC gnomAD
CA2659560 rs758635626	145	P>R		No	ClinGen ExAC gnomAD
CA354907658 rs1253073099	146	L>M		No	ClinGen gnomAD
CA85504708 rs139358881	147	H>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139358881 CA2659559	147	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1576620495 CA917033848	148	M>TISE*		No	ClinGen Ensembl
rs765732600 CA2659558	148	M>V		No	ClinGen ExAC
CA917033846 rs1576620490	149	T>K		No	ClinGen Ensembl
rs1479470300 CA354907332	153	K>E		No	ClinGen gnomAD
CA85504692 rs1042835	154	E>K		No	ClinGen Ensembl
CA85504690 rs984473574	157	R>G		No	ClinGen gnomAD
rs1336213963 CA354907281	157	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs762370405 CA2659557	159	A>V		No	ClinGen ExAC TOPMed gnomAD
CA354907250 rs1256623777	160	V>I		No	ClinGen gnomAD
rs760917479 CA2659554	161	S>*		No	ClinGen ExAC gnomAD
rs374794722 CA85504647	162	D>E		No	ClinGen Ensembl
CA2659552 rs771912152	167	H>P		No	ClinGen ExAC TOPMed gnomAD
CA354907168 rs771912152	167	H>R		No	ClinGen ExAC TOPMed gnomAD
rs993878073 CA85504642	167	H>Y		No	ClinGen gnomAD
CA2659551 rs142709617	168	G>A		No	ClinGen ESP ExAC gnomAD
CA85504627 rs142709617	168	G>E		No	ClinGen ESP ExAC gnomAD
rs774189031 CA2659550	169	F>V		No	ClinGen ExAC gnomAD
rs1164888826 CA354907082	175	P>S		No	ClinGen gnomAD
CA2659528 rs769436707	179	G>*		No	ClinGen ExAC
rs1263847613 CA354906954	181	N>H		No	ClinGen gnomAD
rs199662968 CA2659527	181	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1280739194 CA354906915	185	G>C		No	ClinGen gnomAD
rs754636847 CA2659525	185	G>V		No	ClinGen ExAC TOPMed gnomAD
CA2659524 rs746643096	187	G>D		No	ClinGen ExAC TOPMed gnomAD
CA354906898 rs746643096	187	G>V		No	ClinGen ExAC TOPMed gnomAD
CA2659523 rs779176918	188	S>P		No	ClinGen ExAC TOPMed gnomAD
rs754355631 CA2659519	190	R>I		No	ClinGen ExAC gnomAD
rs1286188457 CA354906872	192	G>*		No	ClinGen TOPMed gnomAD
CA354906874 rs1286188457	192	G>R		No	ClinGen TOPMed gnomAD
CA354906867 rs1433194484	193	P>A		No	ClinGen TOPMed gnomAD
CA354906863 rs1392883245	193	P>R		No	ClinGen gnomAD
CA354906866 rs1433194484	193	P>S		No	ClinGen TOPMed gnomAD
rs140776452 CA2659516	195	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA85503761 rs924319831	196	S>N		No	ClinGen gnomAD
CA85503747 rs924319831	196	S>T		No	ClinGen gnomAD
rs1398254099 CA354906841	197	M>L		No	ClinGen TOPMed
rs752775424 CA2659515	198	P>L		No	ClinGen ExAC gnomAD
rs866288226 CA85503738	198	P>S		No	ClinGen Ensembl
CA354906827 rs1391604508	199	V>L		No	ClinGen TOPMed
TCGA novel	201	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	203	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	204	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1295665206 CA354906767	206	T>A		No	ClinGen TOPMed
CA354906766 rs1295665206	206	T>S		No	ClinGen TOPMed
rs751760699 CA2659512	207	T>A		No	ClinGen ExAC TOPMed gnomAD
CA354906734 rs1212768323	209	Q>E		No	ClinGen gnomAD
rs781158620 CA2659495	211	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1378952045 CA547365649	211	K>T		No	ClinGen gnomAD
CA354906383 rs1280534532	212	T>A		No	ClinGen gnomAD
TCGA novel	215	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1355929876 CA354906297	219	E>G		No	ClinGen gnomAD
CA354906259 rs1471825909	222	K>R		No	ClinGen TOPMed
CA85502259 rs770061207	223	E>*		No	ClinGen TOPMed gnomAD
CA85502261 rs770061207	223	E>K		No	ClinGen TOPMed gnomAD
CA2659492 rs766778303	224	D>G		No	ClinGen ExAC TOPMed gnomAD
CA354906220 rs1263843615	225	D>V		No	ClinGen gnomAD
TCGA novel	228	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2659490 CA354906185 rs763257592	228	H>Q		No	ClinGen ExAC gnomAD
CA354906187 rs1474169386	228	H>R		No	ClinGen gnomAD
CA85502253 rs916765974	230	M>R		No	ClinGen TOPMed
rs750295082 CA2659489	230	M>V		No	ClinGen ExAC TOPMed gnomAD
rs73164926 CA85502001	237	E>*		No	ClinGen ExAC gnomAD
rs780260800 CA2659472	237	E>G		No	ClinGen ExAC gnomAD
CA2659473 rs73164926	237	E>Q		No	ClinGen ExAC gnomAD
rs758736711 CA2659471	238	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1422892538 CA354906071	239	P>L		No	ClinGen TOPMed
rs1218547383 CA354906068	240	L>Q		No	ClinGen gnomAD
rs1342911927 CA354906055	242	P>L		No	ClinGen TOPMed gnomAD
rs765147389 CA2659469	242	P>S		No	ClinGen ExAC
CA354906046 rs1320636104	244	Q>E		No	ClinGen TOPMed
CA2659468 rs757018453	246	Q>E		No	ClinGen ExAC
CA354906019 rs1315559683	247	A>V		No	ClinGen gnomAD
rs760515982 CA2659464	250	W>S		No	ClinGen ExAC gnomAD
CA354905991 rs1432417346	251	M>I		No	ClinGen TOPMed
CA354905976 rs547894937	254	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA85501904 rs766981183	254	R>L		No	ClinGen ExAC TOPMed gnomAD
CA2659462 rs766981183	254	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2659463 rs547894937	254	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354905955 rs1384575711	257	S>N		No	ClinGen gnomAD
CA354905950 rs1366288035	258	K>Q		No	ClinGen gnomAD
TCGA novel	259	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1289422365 CA354905940	259	E>Q		No	ClinGen gnomAD
rs866936093 CA85501896	261	P>S		No	ClinGen Ensembl
CA354905920 rs1234343390	262	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA85501880 COSM1039727 rs140551459	264	W>R	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs770061848 CA2659459	267	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2659458 rs527812739	267	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA2659456 rs114322607 RCV000961494	269	D>G		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2659457 rs80336605	269	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2659454 rs140317783	271	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747488845 CA2659455	271	Y>H		No	ClinGen ExAC gnomAD
CA2659452 rs746102088	272	Y>C		No	ClinGen ExAC gnomAD
CA2659453 rs758503058	272	Y>H		No	ClinGen ExAC gnomAD
rs1212061206 CA354905840	274	T>A		No	ClinGen TOPMed gnomAD
CA2659451 rs779209951	274	T>I		No	ClinGen ExAC TOPMed gnomAD
rs757416768 CA2659450	275	I>M		No	ClinGen ExAC gnomAD
rs1576616403 CA354905835	275	I>V		No	ClinGen Ensembl
TCGA novel	279	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs562852118 CA2659449	281	K>T		No	ClinGen 1000Genomes ExAC gnomAD
CA2659445 rs143449509	282	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA2659446 rs752586644	282	D>G		No	ClinGen ExAC gnomAD
rs756113953 CA2659447	282	D>N		No	ClinGen ExAC TOPMed gnomAD
CA354905785 rs756113953	282	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs758983730 CA2659444	283	R>*		No	ClinGen ExAC TOPMed gnomAD
rs183401411 CA2659443	283	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA85501736 rs148726972	284	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs148726972 CA2659441	284	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1465706859 CA354905740 TCGA novel	285	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed gnomAD NCI-TCGA
CA354905736 rs1355298624	286	N>D		No	ClinGen gnomAD
CA354905731 rs777095963	286	N>S		No	ClinGen ExAC TOPMed gnomAD
rs777095963 CA2659440	286	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1476848956 CA354905688	289	G>*		No	ClinGen TOPMed gnomAD
rs1476848956 CA354905691	289	G>R		No	ClinGen TOPMed gnomAD
CA2659439 rs768864078	290	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA354905047 rs1328780190	300	K>R		No	ClinGen TOPMed
rs761055691 CA2659421	302	L>P		No	ClinGen ExAC gnomAD
rs772054660 CA2659422	302	L>V		No	ClinGen ExAC TOPMed gnomAD
rs775992341 CA2659420	303	T>M		No	ClinGen ExAC TOPMed
rs775992341 CA354904993	303	T>R		No	ClinGen ExAC TOPMed
rs1272815260 CA354904991	304	A>T		No	ClinGen gnomAD
CA2659418 rs760096548	305	I>V		No	ClinGen ExAC gnomAD
rs1318653422 CA354904937	307	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	307	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1243802454 CA354904923	308	I>V		No	ClinGen gnomAD
CA354904899 rs1309499121	309	L>I		No	ClinGen TOPMed gnomAD
rs2305868 CA2659416 VAR_052121	311	N>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1204025165 CA354904707	317	P>S		No	ClinGen TOPMed
CA2659414 rs139300020	318	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs749916690 CA85499301	320	I>N		No	ClinGen Ensembl
rs978747445 CA85499309	320	I>V		No	ClinGen TOPMed gnomAD
CA2659413 rs770003320	321	E>*		No	ClinGen ExAC gnomAD
rs147472587 CA85499284	322	R>G		No	ClinGen ESP TOPMed gnomAD
rs1576612209 CA354904627	322	R>T		No	ClinGen Ensembl
CA2659412 rs367685462	326	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000972395 rs74820266 CA2659395	332	Y>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA354904145 rs1265172645	333	N>H		No	ClinGen gnomAD
CA2659394 rs776444706	333	N>S		No	ClinGen ExAC gnomAD
CA354904106 rs1281378928	336	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	338	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2659392 COSM3846479 rs746982688	338	S>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA354904060 rs201380908	339	M>L		No	ClinGen ExAC TOPMed
CA85496037 rs113982014	339	M>T		No	ClinGen Ensembl
rs201380908 CA2659391	339	M>V		No	ClinGen ExAC TOPMed
CA2659390 rs61761956	340	K>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	342	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354903989 rs1274371121	344	N>K		No	ClinGen gnomAD
CA2659389 rs745426954	345	N>D		No	ClinGen ExAC TOPMed gnomAD
rs745426954 CA354903987	345	N>H		No	ClinGen ExAC TOPMed gnomAD
rs796441666 CA85496029	347	S>I		No	ClinGen TOPMed
rs778543884 CA2659388	348	E>K		No	ClinGen ExAC gnomAD
CA354903932 rs1276787633	349	K>R		No	ClinGen gnomAD
CA354903922 rs1576607695	350	A>P		No	ClinGen Ensembl
rs768012806 CA2659386	351	D>H		No	ClinGen ExAC gnomAD
rs768012806 CA2659385	351	D>N		No	ClinGen ExAC gnomAD
CA2659384 rs755238421	354	S>I		No	ClinGen ExAC gnomAD
CA354903870 rs755238421	354	S>T		No	ClinGen ExAC gnomAD
CA2659365 rs755783896	356	D>G		No	ClinGen ExAC gnomAD
CA2659382 rs752107703	356	D>N		No	ClinGen ExAC
rs758864585 CA2659362	357	A>G		No	ClinGen ExAC gnomAD
CA2659363 COSM1039722 rs535340588	357	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA354903639 rs1279972174	360	C>Y		No	ClinGen gnomAD
rs979613201 CA85494834	361	S>N		No	ClinGen TOPMed gnomAD
VAR_052122 COSM4157356 RCV000962058 rs2228257 CA2659360	362	E>Q	thyroid [Cosmic]	No	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA354903605 rs1183393906	365	S>G		No	ClinGen gnomAD
CA2659359 rs761814742	366	I>V		No	ClinGen ExAC gnomAD
rs1354402366 CA354903573	369	I>S		No	ClinGen TOPMed
rs1354402366 CA354903574	369	I>T		No	ClinGen TOPMed
CA354903570 rs1182787520	370	K>E		No	ClinGen gnomAD
rs548457763 CA85494808	372	K>E		No	ClinGen 1000Genomes TOPMed gnomAD
rs764359762 CA2659357	372	K>T		No	ClinGen ExAC
CA354903540 rs1576606079	374	K>E		No	ClinGen Ensembl
CA354903523 rs1576606064	376	R>C		No	ClinGen Ensembl
RCV000972394 CA2659355 rs111239765	376	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1442786076 CA354903516	377	M>I		No	ClinGen TOPMed
rs148206552 CA2659353 CA354903520	377	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs148206552 CA2659354	377	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1235679521 CA354903511	378	S>*		No	ClinGen TOPMed
rs61755303 CA85494730	378	S>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2659352 rs61755303 RCV000958330	378	S>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs201963102 CA2659351	379	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354903502 rs1283287172	380	L>M		No	ClinGen gnomAD
rs748872340 CA2659350	383	S>F		No	ClinGen ExAC gnomAD
CA2659349 rs200887794	384	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2659348 rs773811328 COSM3392116	384	R>H	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA85494654 COSM3660253 rs773811328	384	R>L	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA2659347 rs200083068	385	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1350404635 CA354903464	386	K>R		No	ClinGen TOPMed gnomAD
CA354903459 rs1166827125	387	R>*		No	ClinGen gnomAD
rs1403454539 CA354903458	387	R>K		No	ClinGen gnomAD
rs1559870881 CA354922195	390	T>A		No	ClinGen Ensembl
rs201773782 CA85548332	390	T>S		No	ClinGen 1000Genomes
CA85548327 rs373405860	391	A>V		No	ClinGen ESP TOPMed gnomAD
rs759817076 CA2659316	392	V>L		No	ClinGen ExAC gnomAD
rs1173503610 CA354922170	393	Q>*		No	ClinGen gnomAD
rs781631030 CA85548317	395	I>M		No	ClinGen TOPMed
CA2659315 rs751446434	395	I>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	400	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766239958 CA2659314	400	S>L		No	ClinGen ExAC TOPMed gnomAD
CA85548314 rs1032816070	401	E>K		No	ClinGen TOPMed
rs763011294 CA2659313	403	I>T		No	ClinGen ExAC TOPMed gnomAD
CA354922051 rs1428900559	404	E>*		No	ClinGen TOPMed
rs1257902386 CA354922030	406	S>G		No	ClinGen TOPMed gnomAD
rs1470901859 CA354922005	408	L>V		No	ClinGen TOPMed
rs553371369 CA2659312	409	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA85548307 rs200736972	409	P>S		No	ClinGen 1000Genomes
CA2659310 rs201653124	412	M>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354921960 rs201653124	412	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1362143929 CA354921947	413	K>T		No	ClinGen TOPMed
CA354921939 rs1316004681	414	G>S		No	ClinGen gnomAD
rs763554421 CA2659289	414	G>V		No	ClinGen ExAC gnomAD
CA2659288 rs760340950	416	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs551321462 CA2659286	418	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2659285 rs140350337	419	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2659284 rs773431408	420	Q>*		No	ClinGen ExAC gnomAD
rs990225126 CA85548222	420	Q>L		No	ClinGen TOPMed gnomAD
CA85548219 rs956088673	423	T>I		No	ClinGen Ensembl
rs1187733088 CA354921782	426	R>M		No	ClinGen TOPMed gnomAD
rs751841073 CA2659283	427	A>S		No	ClinGen ExAC gnomAD
CA354921775 TCGA novel rs751841073	427	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA ExAC gnomAD
COSM1209787 rs138658648 CA2659282	427	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA2659259 rs746039113	430	G>V		No	ClinGen ExAC TOPMed gnomAD
CA2659257 rs756943593	431	S>T		No	ClinGen ExAC gnomAD
CA2659255 rs777754346	432	S>F		No	ClinGen ExAC gnomAD
CA2659254 rs756028921	433	K>E		No	ClinGen ExAC gnomAD
rs554357628 CA2659253	434	V>I		No	ClinGen ExAC gnomAD
CA2659252 rs78525660	435	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759260915 CA2659251	436	E>K		No	ClinGen ExAC gnomAD
rs751117048 CA2659250	437	D>N		No	ClinGen ExAC TOPMed gnomAD
CA2659249 rs765642061	437	D>V		No	ClinGen ExAC gnomAD
CA354921568 rs1425611268	438	V>E		No	ClinGen gnomAD
rs1474956706 CA354921548	439	A>V		No	ClinGen gnomAD
CA354921534 rs1322710910	441	A>T		No	ClinGen TOPMed
CA2659248 rs762154956	442	C>R		No	ClinGen ExAC gnomAD
CA2659247 rs777122403	442	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA85547864 rs773367079	446	S>A		No	ClinGen Ensembl
rs1199400307 CA354921453	446	S>L		No	ClinGen TOPMed
rs761233854 CA2659245	449	P>R		No	ClinGen ExAC gnomAD
CA354921398 rs1320645105	450	T>I		No	ClinGen gnomAD
CA354921394 rs1256647609	451	T>A		No	ClinGen gnomAD
CA2659244 rs775745147	453	K>T		No	ClinGen ExAC TOPMed gnomAD
rs201128683 CA85547850	455	M>T		No	ClinGen 1000Genomes
rs1456664238 CA354921314	455	M>V		No	ClinGen TOPMed
CA354921261 rs1380053706	457	K>E		No	ClinGen gnomAD
TCGA novel	458	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2659242 rs771995196	458	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1446788728 CA354921244	458	K>R		No	ClinGen gnomAD
rs1041988647 CA85547837	459	G>*		No	ClinGen TOPMed gnomAD
CA354921234 rs1041988647	459	G>R		No	ClinGen TOPMed gnomAD
CA2659207 rs754933188	460	A>D		No	ClinGen ExAC gnomAD
rs781060662 CA2659208	460	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1480336916 CA354920915	461	C>W		No	ClinGen gnomAD
rs1388460387 CA354920911	462	A>V		No	ClinGen TOPMed
rs758156939 CA2659204	465	G>E		No	ClinGen ExAC gnomAD
CA2659205 rs779585789	465	G>R		No	ClinGen ExAC TOPMed gnomAD
CA85546035 rs957070470	466	S>*		No	ClinGen Ensembl
rs750049721 CA2659203	466	S>A		No	ClinGen ExAC gnomAD
rs764564890 CA2659202	467	K>R		No	ClinGen ExAC gnomAD
CA2659201 rs756479170	468	K>Q		No	ClinGen ExAC gnomAD
rs1269678779 CA354920868	469	T>N		No	ClinGen TOPMed
rs746288848 CA85546016	469	T>P		No	ClinGen TOPMed gnomAD
CA2659200 rs753106222	470	D>Y		No	ClinGen ExAC gnomAD
CA85546011 rs554588734	471	V>A		No	ClinGen 1000Genomes
CA354920858 rs1329425436	471	V>F		No	ClinGen TOPMed
rs760061545 CA2659198	473	E>*		No	ClinGen ExAC TOPMed gnomAD
rs760061545 CA2659199	473	E>K		No	ClinGen ExAC TOPMed gnomAD
rs760061545 CA354920847	473	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA354920834 rs1401541078	475	P>T		No	ClinGen gnomAD
CA354920828 rs1360215708	476	R>G		No	ClinGen gnomAD
CA2659197 rs774330706	477	T>A		No	ClinGen ExAC TOPMed gnomAD
CA354920818 rs1460123249	477	T>R		No	ClinGen gnomAD
rs766438860 CA2659195	480	I>M		No	ClinGen ExAC TOPMed gnomAD
rs763182508 CA2659194	481	I>T		No	ClinGen ExAC gnomAD
CA2659193 rs202243174	483	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs151046571 CA2659192	483	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	483	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354920757 rs1185551597	487	L>F		No	ClinGen gnomAD
rs1559866690 CA354920751	488	S>N		No	ClinGen Ensembl
rs768516413 CA2659189	490	W>*		No	ClinGen ExAC gnomAD
CA2659190 rs776468657	490	W>*		No	ClinGen ExAC TOPMed gnomAD
CA85545975 rs998792177	491	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA2659188 rs746925328	491	I>V		No	ClinGen ExAC TOPMed gnomAD
CA354920083 rs1313183454	495	G>*		No	ClinGen gnomAD
CA354920059 rs1245414543	497	H>Y		No	ClinGen gnomAD
rs1377714488 CA354920042	498	I>V		No	ClinGen gnomAD
TCGA novel	499	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148916691 CA2659169	503	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA354919964 rs1396349199	503	H>Y		No	ClinGen gnomAD
CA2659167 rs775429236	504	L>F		No	ClinGen ExAC gnomAD
rs760546650 CA2659168	504	L>M		No	ClinGen ExAC gnomAD
CA354919950 rs760546650	504	L>V		No	ClinGen ExAC gnomAD
TCGA novel	506	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354919904 rs1161257427	507	Y>C		No	ClinGen TOPMed gnomAD
CA354919903 rs1161257427	507	Y>F		No	ClinGen TOPMed gnomAD
rs1443522734 CA354919889	508	V>F		No	ClinGen TOPMed gnomAD
rs1443522734 CA354919893	508	V>I		No	ClinGen TOPMed gnomAD
TCGA novel	509	Y>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1380409505 CA354919875	509	Y>S		No	ClinGen gnomAD
rs1210280419 CA354919799	514	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs147909210 CA2659164	515	I>T		No	ClinGen ESP ExAC gnomAD
rs892618174 CA85542931	515	I>V		No	ClinGen TOPMed
rs770747485 CA2659163	518	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1238919995 CA354919741	519	A>D		No	ClinGen TOPMed
CA2659161 rs372248167	519	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1348665281 CA354919733	520	L>V		No	ClinGen TOPMed gnomAD
CA2659160 rs374678894	521	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs746769623 CA85542923	522	S>*		No	ClinGen Ensembl
rs371668196 CA85542920	523	K>I		No	ClinGen ESP TOPMed
rs1236905732 CA354919660	524	Q>R		No	ClinGen gnomAD
rs1438936855 CA354919564 COSM325498	530	T>A	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs561426745 CA2659157	530	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1171277005 CA354919534	532	N>H		No	ClinGen TOPMed
rs1329905995 CA354919518	533	I>V		No	ClinGen TOPMed gnomAD
CA85542899 rs1004130708	535	T>A		No	ClinGen TOPMed
CA354919436 rs1335546241	537	D>G		No	ClinGen TOPMed
TCGA novel	537	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2659153 rs140954450	538	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs140954450 CA2659154	538	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs756263932 CA2659130	540	T>I		No	ClinGen ExAC gnomAD
CA2659129 rs372432234	541	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA354918848 CA85542367 rs903832804	542	G>R		No	ClinGen TOPMed gnomAD
CA85542365 rs1044143973	544	S>C		No	ClinGen Ensembl
rs767380569 CA2659128	544	S>N		No	ClinGen ExAC gnomAD
rs867194444 CA85542356	545	P>L		No	ClinGen Ensembl
CA354918781 rs1191259032	546	L>S		No	ClinGen gnomAD
CA85542350 rs913178874	551	W>*		No	ClinGen Ensembl
CA354918696 rs1433006563	553	R>T		No	ClinGen TOPMed
rs1576587501 CA354918666	556	L>P		No	ClinGen Ensembl
rs1256977754 CA354918657	557	D>G		No	ClinGen gnomAD
CA85542347 rs988565115	559	G>R		No	ClinGen Ensembl
rs75188919 CA85542346	560	H>L		No	ClinGen 1000Genomes gnomAD
CA354918622 rs75188919	560	H>R		No	ClinGen 1000Genomes gnomAD
rs150072566 CA2659124	562	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3380432 rs772575050 CA2659123	563	R>*	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA354918594 rs1271618745 COSM275472	563	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1576587444 CA354918586	564	N>D		No	ClinGen Ensembl
CA354918567 rs1325444289	566	N>D		No	ClinGen gnomAD
CA2659122 rs202199103	569	Q>*		No	ClinGen ExAC gnomAD
CA354918516 rs1403884774	569	Q>H		No	ClinGen gnomAD
CA354918519 rs1454059203	569	Q>P		No	ClinGen gnomAD
rs1335972051 CA354918510	570	T>A		No	ClinGen TOPMed gnomAD
CA354918499 rs1465993973	571	K>E		No	ClinGen TOPMed gnomAD
rs775858234 CA2659120	573	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2659118 rs746381891	575	D>V		No	ClinGen ExAC gnomAD
CA354918451 rs1559862174	576	L>F		No	ClinGen Ensembl
CA2659116 rs779466153	577	E>D		No	ClinGen ExAC gnomAD
TCGA novel	580	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA85542303 rs984899893	582	W>R		No	ClinGen TOPMed gnomAD
CA85541944 rs566426235	588	P>L		No	ClinGen 1000Genomes
rs779674644 CA2659088	588	P>S		No	ClinGen ExAC gnomAD
rs1396506955 CA354918286	590	Q>R		No	ClinGen TOPMed
CA2659085 rs750273899	596	L>F		No	ClinGen ExAC
CA2659084 rs764811304	597	W>C		No	ClinGen ExAC gnomAD
CA354918186 rs1441258648	599	L>F		No	ClinGen gnomAD
rs1441258648 CA354918187	599	L>V		No	ClinGen gnomAD
rs1324577380 CA354918169	601	S>P		No	ClinGen TOPMed
TCGA novel	604	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2659082 rs753335244	608	F>V		No	ClinGen ExAC gnomAD
CA2659081 rs763782961	609	I>F		No	ClinGen ExAC TOPMed gnomAD
rs760286020 CA2659080	610	D>G		No	ClinGen ExAC TOPMed gnomAD
rs968650034 CA85541916	610	D>H		No	ClinGen Ensembl
TCGA novel	612	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354918043 rs1393264365	613	W>*		No	ClinGen Ensembl
CA354918051 rs1576586435	613	W>R		No	ClinGen Ensembl
rs1365116156 CA354918028	614	W>*		No	ClinGen gnomAD
rs766828338 CA85541907	615	H>R		No	ClinGen Ensembl
CA2659079 rs769261535	617	T>K		No	ClinGen ExAC gnomAD
CA354917982 rs1402505250	619	Q>*		No	ClinGen gnomAD
COSM206081 CA354917966 rs1406505473	620	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs771148946 CA2659078	624	M>V		No	ClinGen ExAC TOPMed
CA354917925 rs1478616976	625	G>R		No	ClinGen gnomAD
rs763528995 CA2659077	627	E>G		No	ClinGen ExAC gnomAD
CA2659076 rs184046773	629	G>E		No	ClinGen 1000Genomes ExAC gnomAD
rs371233960 CA2659055	632	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA2659054 rs201978472	632	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs889937209 CA85540973	633	L>V		No	ClinGen Ensembl
CA2659053 rs762372116	634	Q>R		No	ClinGen ExAC gnomAD
CA354917796 rs1559860506	638	K>*		No	ClinGen Ensembl
CA354917777 rs1576584323	640	I>V		No	ClinGen Ensembl
CA2659051 rs776873058	644	R>I		No	ClinGen ExAC gnomAD
rs776873058 CA354917735	644	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	652	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2659047 rs772327180	653	K>N		No	ClinGen ExAC gnomAD
rs775646317 CA2659048	653	K>R		No	ClinGen ExAC gnomAD
rs1049052447 CA85540942	655	V>F		No	ClinGen Ensembl
rs369671613 CA2659046	657	E>A		No	ClinGen ESP ExAC TOPMed
CA2659044 rs757214237	658	L>I		No	ClinGen ExAC gnomAD
rs377004804 CA2659043	659	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA354917574 rs1187446674	660	E>A		No	ClinGen gnomAD
CA2659041 rs755554282	661	R>C		No	ClinGen ExAC TOPMed gnomAD
CA85540898 rs897246384	661	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs752246801 CA354917560	662	K>E		No	ClinGen ExAC
rs752246801 CA2659040	662	K>Q		No	ClinGen ExAC
TCGA novel	665	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs137866464 CA2659039	665	I>V		No	ClinGen ESP ExAC gnomAD
CA354917506 rs1265497064	666	Q>L		No	ClinGen TOPMed
CA354917482 rs1460788931	668	I>F		No	ClinGen gnomAD
CA354917484 COSM3660251 rs1460788931	668	I>V	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	669	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2659036 rs765649881	671	S>*		No	ClinGen ExAC gnomAD
CA354917446 rs765649881	671	S>L		No	ClinGen ExAC gnomAD
CA85540868 rs766002591	672	D>N		No	ClinGen Ensembl
rs762423430 CA2659034	672	D>V		No	ClinGen ExAC gnomAD
TCGA novel	672	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1290248026 CA354917434	673	E>K		No	ClinGen TOPMed
rs1183360685 CA354917409	674	E>D		No	ClinGen TOPMed
rs777212216 CA2659033	675	R>G		No	ClinGen ExAC gnomAD
CA2659032 rs764697623	675	R>T		No	ClinGen ExAC gnomAD
CA2659029 rs772226314	677	I>M		No	ClinGen ExAC gnomAD
rs146224624 CA2659030	677	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA2659028 rs746059934	679	Q>H		No	ClinGen ExAC gnomAD
CA354917309 rs1460773293	680	S>P		No	ClinGen gnomAD
rs561083562 CA85540800	682	K>I		No	ClinGen 1000Genomes
CA2659027 rs774149457	685	G>S		No	ClinGen ExAC gnomAD
CA354917211 rs1369098670	687	A>D		No	ClinGen TOPMed
rs770651808 CA2659026	687	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	689	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354916966 rs1366995249	694	N>T		No	ClinGen gnomAD
rs754246572 CA2659014	695	E>D		No	ClinGen ExAC gnomAD
CA85538229 rs968346014	696	G>W		No	ClinGen TOPMed
rs1338438692 CA354916922	700	A>E		No	ClinGen TOPMed
rs371921090 CA2659011	701	H>Y		No	ClinGen ESP ExAC gnomAD
rs141615958 CA2659009	703	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1490905268 CA354916868	705	V>F		No	ClinGen TOPMed gnomAD
rs759686520 CA2659008	707	G>V		No	ClinGen ExAC TOPMed gnomAD
COSM1536561 CA354916844 rs1209383794	708	L>V	lung Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	710	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774486076 CA2659007	710	L>R		No	ClinGen ExAC gnomAD
CA354916814 rs1576579493	711	R>T		No	ClinGen Ensembl
rs1559857812 CA354916807	712	L>V		No	ClinGen Ensembl
CA354916799 rs1316779588	713	R>Q		No	ClinGen TOPMed gnomAD
CA2659006 rs546076312	713	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2659005 rs762795085	714	Q>H		No	ClinGen ExAC gnomAD
rs1576579458 CA354916780	715	I>L		No	ClinGen Ensembl
CA2659004 rs772967707	715	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1215353387 CA354916756	717	C>*		No	ClinGen TOPMed
rs1347081968 CA354916761	717	C>R		No	ClinGen gnomAD
CA354916721 rs1300871493	720	Y>*		No	ClinGen gnomAD
CA2659002 rs769657734	723	T>K		No	ClinGen ExAC gnomAD
rs1260580509 CA354916691	724	N>D		No	ClinGen TOPMed
rs1451549761 CA354916676	725	A>V		No	ClinGen gnomAD
CA354916672 rs780582388	726	V>L		No	ClinGen ExAC TOPMed gnomAD
rs780582388 CA2659000	726	V>M		No	ClinGen ExAC TOPMed gnomAD
CA354916667 rs1176963196	727	S>T		No	ClinGen gnomAD
CA2658999 rs138717471	729	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143125997 CA2658997	730	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA354916613 rs1433076825	732	S>L		No	ClinGen TOPMed
rs149074331 CA2658996	733	G>R		No	ClinGen ESP ExAC
rs763129433 CA2658987	734	N>I		No	ClinGen ExAC TOPMed gnomAD
CA2658986 rs773014724	734	N>K		No	ClinGen ExAC gnomAD
rs887689749 CA85537661	735	D>V		No	ClinGen TOPMed gnomAD
rs767087362 CA85537643	736	T>I		No	ClinGen gnomAD
CA85537650 rs767087362	736	T>K		No	ClinGen gnomAD
TCGA novel	738	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2658984 rs761660478	739	E>K		No	ClinGen ExAC gnomAD
TCGA novel	741	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs113869632 CA85537623	743	K>E		No	ClinGen Ensembl
rs1460341600 CA354916428	743	K>T		No	ClinGen gnomAD
rs1275299948 CA354916408	745	I>L		No	ClinGen TOPMed gnomAD
CA2658981 rs746571034	745	I>M		No	ClinGen ExAC TOPMed gnomAD
CA354916398 rs1196689183	746	R>K		No	ClinGen gnomAD
rs1339727875 CA354916388	747	K>E		No	ClinGen gnomAD
TCGA novel	748	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354916377 rs1252696194	748	M>V		No	ClinGen gnomAD
rs1576578718 CA354916333	752	L>V		No	ClinGen Ensembl
rs745466555 CA2658978	755	G>D		No	ClinGen ExAC gnomAD
rs778009036 CA2658977	757	D>G		No	ClinGen ExAC gnomAD
rs778009036 CA354916288	757	D>V		No	ClinGen ExAC gnomAD
rs1392961597 CA354916267	759	E>G		No	ClinGen TOPMed
TCGA novel	760	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354916248 rs1421282107	761	A>S		No	ClinGen TOPMed
CA2658976 rs34622270 RCV000969461	762	I>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA354916217 rs1338557881	764	L>P		No	ClinGen gnomAD
CA354916172 rs1333335022	769	V>A		No	ClinGen gnomAD
CA354916155 rs1398964604	771	V>A		No	ClinGen gnomAD
rs370415771 CA2658972	774	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs755454529 CA2658973	774	H>Y		No	ClinGen ExAC gnomAD
rs1443341521 CA354916113	775	C>W		No	ClinGen gnomAD
CA354916119 rs1185424493	775	C>Y		No	ClinGen gnomAD
CA2658971 rs368373271	776	A>T		No	ClinGen ESP ExAC gnomAD
rs1183071645 CA354915552	776	A>V		No	ClinGen gnomAD
CA354915533 rs1340968991	777	H>Q		No	ClinGen TOPMed gnomAD
CA2658968 rs765375275	777	H>R		No	ClinGen ExAC gnomAD
CA2658969 rs750592920	777	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs761727214 CA2658967	778	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA354915456 rs1242755088	782	P>L		No	ClinGen TOPMed
rs764134229 CA354915461	782	P>S		No	ClinGen ExAC gnomAD
rs764134229 CA2658965	782	P>T		No	ClinGen ExAC gnomAD
rs371028097 CA2658964	786	Q>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371028097 CA2658963	786	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	787	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354915384 rs1270217853	787	V>L		No	ClinGen gnomAD
CA354915364 rs1337335645	788	I>L		No	ClinGen TOPMed gnomAD
CA354915361 rs1337335645	788	I>V		No	ClinGen TOPMed gnomAD
rs201520168 CA2658961	791	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA85537481 rs374590360	792	Q>*		No	ClinGen Ensembl
CA354915304 rs1221009552	792	Q>H		No	ClinGen TOPMed
rs866816750 CA85536436	793	P>T		No	ClinGen Ensembl
TCGA novel	796	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs956141723 CA85536433	797	C>Y		No	ClinGen gnomAD
rs773709485 CA2658938	798	P>S		No	ClinGen ExAC gnomAD
rs1410319819 CA354915160	799	L>F		No	ClinGen gnomAD
rs770654993 CA2658937	800	C>R		No	ClinGen ExAC gnomAD
CA354915155 rs1480951737	800	C>Y		No	ClinGen gnomAD
CA354915148 rs1429620238	801	R>G		No	ClinGen gnomAD
rs1485169056 CA354915143	801	R>K		No	ClinGen TOPMed
rs748851681 CA2658936	802	N>D		No	ClinGen ExAC gnomAD
rs1185124549 CA354915135	802	N>S		No	ClinGen TOPMed
rs61750365 CA2658934	804	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2658935 rs777075595	804	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1215812614 CA354915104	805	H>P		No	ClinGen TOPMed gnomAD
rs1215812614 CA354915105	805	H>R		No	ClinGen TOPMed gnomAD
rs1448725109 CA354915098	806	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA354915088 rs1266160734	807	D>N		No	ClinGen gnomAD
CA85536412 rs997740414	808	N>D		No	ClinGen Ensembl
CA354915045 rs1207918573	810	L>F		No	ClinGen gnomAD
rs747370512 CA2658933	812	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs61750364 CA2658931	814	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771135031 CA85536396	815	E>D		No	ClinGen Ensembl
CA85536397 rs1017867093	815	E>Q		No	ClinGen TOPMed gnomAD
TCGA novel	816	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372238111 CA2658929	819	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA85536382 rs372238111	819	R>G		No	ClinGen ESP ExAC gnomAD
VAR_029265 rs2229361 CA2658928	819	R>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2658926 rs753953247	820	D>G		No	ClinGen ExAC gnomAD
rs757526301 CA2658927	820	D>N		No	ClinGen ExAC gnomAD
rs921884302 CA85536357	821	S>G		No	ClinGen TOPMed
TCGA novel	822	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1311087897 CA354914937	822	E>K		No	ClinGen TOPMed
CA2658923 rs1382647867	824	K>N		No	ClinGen TOPMed
rs74927267 CA354914905	824	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2658925 rs74927267	824	K>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756036645 CA2658921	827	M>T		No	ClinGen ExAC
rs752525526 CA2658920	828	E>*		No	ClinGen ExAC gnomAD
CA354914849 rs1424016504	828	E>D		No	ClinGen gnomAD
CA2658919 rs767609362	829	W>*		No	ClinGen ExAC gnomAD
CA354914837 rs1476089988	830	T>A		No	ClinGen gnomAD
CA85536326 rs958140776	830	T>K		No	ClinGen TOPMed gnomAD
rs554839264 COSM1039715 CA2658918	832	S>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA
rs1461677947 CA354914803	834	K>E		No	ClinGen gnomAD
rs751112077 CA2658917	834	K>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	836	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354914735 rs1206933942	836	N>K		No	ClinGen gnomAD
TCGA novel	836	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354914724 COSM1039714 rs1340227885	837	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA354914695 rs749377680	840	H>Q		No	ClinGen ExAC gnomAD
rs372129397 CA354914692	841	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs372129397 CA2658899	841	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs367867563 CA2658897	844	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2658896 rs781092650	849	N>D		No	ClinGen ExAC gnomAD
rs201738138 CA85535998	850	P>L		No	ClinGen 1000Genomes
CA354914600 rs1482912928	850	P>T		No	ClinGen Ensembl
CA354914586 CA2658895 rs754965743	852	I>L		No	ClinGen ExAC gnomAD
CA354914577 rs1368254012	853	K>T		No	ClinGen gnomAD
CA2658893 rs766336556	855	L>F		No	ClinGen ExAC TOPMed gnomAD
rs751394762 CA2658894	855	L>M		No	ClinGen ExAC gnomAD
rs762428846 CA2658892	856	V>F		No	ClinGen ExAC gnomAD
rs1162627848 CA354914544	858	S>F		No	ClinGen gnomAD
TCGA novel	865	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2658887 rs772271334	867	I>M		No	ClinGen ExAC gnomAD
CA2658889 rs775857943	867	I>R		No	ClinGen ExAC gnomAD
CA2658888 rs775857943	867	I>T		No	ClinGen ExAC gnomAD
CA2658886 rs760096395	870	P>L		No	ClinGen ExAC gnomAD
rs147683321 CA2658871	873	A>V		No	ClinGen ESP ExAC gnomAD
CA2658870 rs756920042	875	G>E		No	ClinGen ExAC gnomAD
CA2658867 rs759872382	879	T>P		No	ClinGen ExAC gnomAD
rs142925682 CA2658866	880	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2658865 rs766833541	880	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA354914393 rs766833541	880	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1385730568 CA354914390	881	L>V		No	ClinGen gnomAD
rs748385990 CA2658861	885	M>I		No	ClinGen ExAC gnomAD
rs769936829 CA2658862	885	M>R		No	ClinGen ExAC TOPMed gnomAD
CA2658863 rs769936829	885	M>T		No	ClinGen ExAC TOPMed gnomAD
rs763512201 CA2658864	885	M>V		No	ClinGen ExAC TOPMed gnomAD
CA354914356 rs776775910	886	A>D		No	ClinGen ExAC gnomAD
CA2658860 rs776775910	886	A>V		No	ClinGen ExAC gnomAD
CA2658859 rs768902155	887	Q>R		No	ClinGen ExAC gnomAD
rs746821765 CA354914340 COSM3427194	888	K>N	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1467787302 CA354914343	888	K>R		No	ClinGen gnomAD
CA2658857 rs560250697	889	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA2658855 rs745750885	890	R>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	892	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1278792910 CA547365718	894	I>R*		No	ClinGen gnomAD
CA354914293 rs1411804075	895	Q>H		No	ClinGen TOPMed
rs148553300 CA354914296	895	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs148553300 CA2658853	895	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA354914274 rs1313494832	898	Q>K		No	ClinGen gnomAD
CA354914263 rs1357565078	899	N>I		No	ClinGen gnomAD
TCGA novel	899	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1187265622 CA354914258	900	T>P		No	ClinGen gnomAD
CA2658851 rs191712038	900	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354914254 rs763700041	901	E>*		No	ClinGen ExAC gnomAD
CA2658850 rs763700041	901	E>K		No	ClinGen ExAC gnomAD
CA2658849 rs755757366	903	G>R		No	ClinGen ExAC gnomAD
CA354914238 rs1212060177	903	G>V		No	ClinGen Ensembl
TCGA novel	904	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751898526 CA2658848	906	T>A		No	ClinGen ExAC TOPMed gnomAD
rs751898526 CA354914225	906	T>P		No	ClinGen ExAC TOPMed gnomAD
CA354914220 rs1231953816	907	I>L		No	ClinGen gnomAD
CA354914219 COSM1693575 rs1231953816	907	I>V	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	909	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2658845 rs201754257	911	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA85535471 rs1008387257	915	G>S		No	ClinGen TOPMed
CA354914162 rs1559854856	916	G>R		No	ClinGen Ensembl
rs1337209610 CA354914139	919	L>F		No	ClinGen TOPMed gnomAD
rs1212356198 CA354914134	920	N>T		No	ClinGen TOPMed
CA2658843 rs762034774	922	S>C		No	ClinGen ExAC TOPMed gnomAD
rs776742173 CA2658842	924	A>T		No	ClinGen ExAC TOPMed gnomAD
rs768794352 CA2658841	926	R>*		No	ClinGen ExAC TOPMed gnomAD
rs768794352 CA85535465	926	R>G		No	ClinGen ExAC TOPMed gnomAD
rs747207862 COSM281722 CA2658840	926	R>Q	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs775165370 CA2658839	927	V>M		No	ClinGen ExAC gnomAD
rs745662926 CA2658837	928	F>L		No	ClinGen ExAC gnomAD
CA2658838 rs771792275	928	F>S		No	ClinGen ExAC TOPMed gnomAD
CA354914093 rs1166732532	928	F>V		No	ClinGen gnomAD
rs778875566 CA2658836	929	L>I		No	ClinGen ExAC gnomAD
rs1168907769 CA354914088	929	L>S		No	ClinGen TOPMed
CA354914063 rs1454465830	932	P>L		No	ClinGen TOPMed gnomAD
CA354913368 rs1386465044	936	P>R		No	ClinGen TOPMed gnomAD
rs1354494404 CA354913338	938	A>V		No	ClinGen Ensembl
rs1187782477 CA354913314	940	D>Y		No	ClinGen gnomAD
rs1576568530 CA354913268	942	C>Y		No	ClinGen Ensembl
rs760815478 CA2658821	944	D>N		No	ClinGen ExAC gnomAD
CA354913209 rs1485955325	946	C>R		No	ClinGen gnomAD
rs1426192701 CA354913175	947	H>R		No	ClinGen TOPMed
CA354913128 rs1472074511	950	G>R		No	ClinGen gnomAD
CA2658818 rs759371992	953	Q>H		No	ClinGen ExAC gnomAD
rs888240142 CA85532399	954	E>K		No	ClinGen Ensembl
CA2658816 rs144849497	956	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2658817 rs576351600	956	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA2658814 rs777160310	957	I>N		No	ClinGen ExAC gnomAD
CA2658815 rs749198473	957	I>V		No	ClinGen ExAC gnomAD
CA354913007 rs1559851665	958	T>S		No	ClinGen Ensembl
rs1398418494 CA354912995	959	K>E		No	ClinGen TOPMed
TCGA novel	959	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149848386 CA354912440	960	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs975948107 CA85530352	961	I>V		No	ClinGen Ensembl
TCGA novel	962	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200400145 CA2658786	965	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs910317137 CA85530340	967	E>K		No	ClinGen TOPMed gnomAD
rs910317137 CA354912376	967	E>Q		No	ClinGen TOPMed gnomAD
CA354912364 rs1158817119	968	E>*		No	ClinGen gnomAD
CA85530338 rs974226480	970	M>V		No	ClinGen TOPMed
CA2658785 rs746603930	974	Q>*		No	ClinGen ExAC gnomAD
CA354912298 rs746603930	974	Q>K		No	ClinGen ExAC gnomAD
rs961591832 CA85530294	974	Q>R		No	ClinGen TOPMed
rs1395648939 CA354912278	975	N>K		No	ClinGen gnomAD
rs779427720 CA2658782	977	K>E		No	ClinGen ExAC TOPMed gnomAD
CA354912256 rs1456792129	977	K>R		No	ClinGen TOPMed gnomAD
CA354912247 rs146181227	978	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA2658781 rs146181227	978	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1189181913 CA354912212	981	A>V		No	ClinGen gnomAD
CA2658777 rs778397992	984	A>D		No	ClinGen ExAC gnomAD
CA2658778 rs749606859	984	A>T		No	ClinGen ExAC gnomAD
rs1313062957 CA354912166	986	G>A		No	ClinGen gnomAD
rs1207861224 CA354912171	986	G>R		No	ClinGen gnomAD
CA2658776 rs144381721	987	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354912136 rs983187075	990	P>A		No	ClinGen TOPMed gnomAD
rs983187075 CA354912135	990	P>S		No	ClinGen TOPMed gnomAD
CA85530237 rs983187075	990	P>T		No	ClinGen TOPMed gnomAD
rs200936969 CA2658775	991	N>I		No	ClinGen 1000Genomes ExAC gnomAD
CA354912121 rs200936969	991	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs767533371 CA85530194	992	A>G		No	ClinGen ExAC TOPMed gnomAD
rs767533371 CA2658774	992	A>V		No	ClinGen ExAC TOPMed gnomAD
CA2658771 rs766582722	994	E>D		No	ClinGen ExAC gnomAD
rs751712990 CA2658772	994	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs751712990 CA354912095	994	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA354912076 rs1359432256	995	M>I		No	ClinGen gnomAD
CA2658770 rs762863740	995	M>L		No	ClinGen ExAC gnomAD
CA354912067 rs1177825906	996	K>R		No	ClinGen gnomAD
CA2658768 rs765251306	1001	N>D		No	ClinGen ExAC TOPMed gnomAD
CA85530143 rs1029949009	1002	E>Q		No	ClinGen TOPMed
CA85530130 rs761607385	1005	T>I		No	ClinGen ExAC TOPMed gnomAD
rs761607385 CA2658767	1005	T>K		No	ClinGen ExAC TOPMed gnomAD
rs951766943 CA85530113	1007	I>F		No	ClinGen Ensembl
CA2658766 rs776295631	1008	D>Y		No	ClinGen ExAC gnomAD
rs768217018 CA2658765	1010	L>Q		No	ClinGen ExAC gnomAD

No associated diseases with Q14527

1 regional properties for Q14527

Type	Name	Position	InterPro Accession
domain	NAD(P)-binding domain	90 - 293	IPR016040

Functions

		Description
EC Number	2.3.2.27	Aminoacyltransferases
Subcellular Localization	Cytoplasm Nucleus Nucleus, nucleolus Nucleus, nucleoplasm	Nuclear localization is stimulated by progesterone
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.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nuclear matrix	The dense fibrillar network lying on the inner side of the nuclear membrane.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
RNA polymerase II transcription regulator complex	A transcription factor complex that acts at a regulatory region of a gene transcribed by RNA polymerase II.

10 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP-dependent activity, acting on DNA	Catalytic activity that acts to modify DNA, driven by ATP hydrolysis.
ATP-dependent chromatin remodeler activity	An activity, driven by ATP hydrolysis, that modulates the contacts between histones and DNA, resulting in a change in chromosome architecture within the nucleosomal array, leading to chromatin remodeling.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
helicase activity	Catalysis of the reaction: ATP + H2O = ADP + phosphate, to drive the unwinding of a DNA or RNA helix.
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	Catalysis of the hydrolysis of any acid anhydride which contains phosphorus.
RNA binding	Binding to an RNA molecule or a portion thereof.
ubiquitin protein ligase activity	Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues.
ubiquitin protein ligase binding	Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins.
zinc ion binding	Binding to a zinc ion (Zn).

5 GO annotations of biological process

Name	Definition
DNA repair	The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway.
mRNA transcription by RNA polymerase II	The cellular synthesis of messenger RNA (mRNA) from a DNA template by RNA polymerase II, originating at an RNA polymerase II promoter.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
protein ubiquitination	The process in which one or more ubiquitin groups are added to a protein.
regulation of neurogenesis	Any process that modulates the frequency, rate or extent of neurogenesis, the generation of cells in the nervous system.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q6PCN7	Hltf	Helicase-like transcription factor	Mus musculus (Mouse)	PR
Q9M1I1	At3g54460	F-box protein At3g54460	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MSWMFKRDPV	WKYLQTVQYG	VHGNFPRLSY	PTFFPRFEFQ	DVIPPDDFLT	SDEEVDSVLF
70	80	90	100	110	120
GSLRGHVVGL	RYYTGVVNNN	EMVALQRDPN	NPYDKNAIKV	NNVNGNQVGH	LKKELAGALA
130	140	150	160	170	180
YIMDNKLAQI	EGVVPFGANN	AFTMPLHMTF	WGKEENRKAV	SDQLKKHGFK	LGPAPKTLGF
190	200	210	220	230	240
NLESGWGSGR	AGPSYSMPVH	AAVQMTTEQL	KTEFDKLFED	LKEDDKTHEM	EPAEAIETPL
250	260	270	280	290	300
LPHQKQALAW	MVSRENSKEL	PPFWEQRNDL	YYNTITNFSE	KDRPENVHGG	ILADDMGLGK
310	320	330	340	350	360
TLTAIAVILT	NFHDGRPLPI	ERVKKNLLKK	EYNVNDDSMK	LGGNNTSEKA	DGLSKDASRC
370	380	390	400	410	420
SEQPSISDIK	EKSKFRMSEL	SSSRPKRRKT	AVQYIESSDS	EEIETSELPQ	KMKGKLKNVQ
430	440	450	460	470	480
SETKGRAKAG	SSKVIEDVAF	ACALTSSVPT	TKKKMLKKGA	CAVEGSKKTD	VEERPRTTLI
490	500	510	520	530	540
ICPLSVLSNW	IDQFGQHIKS	DVHLNFYVYY	GPDRIREPAL	LSKQDIVLTT	YNILTHDYGT
550	560	570	580	590	600
KGDSPLHSIR	WLRVILDEGH	AIRNPNAQQT	KAVLDLESER	RWVLTGTPIQ	NSLKDLWSLL
610	620	630	640	650	660
SFLKLKPFID	REWWHRTIQR	PVTMGDEGGL	RRLQSLIKNI	TLRRTKTSKI	KGKPVLELPE
670	680	690	700	710	720
RKVFIQHITL	SDEERKIYQS	VKNEGRATIG	RYFNEGTVLA	HYADVLGLLL	RLRQICCHTY
730	740	750	760	770	780
LLTNAVSSNG	PSGNDTPEEL	RKKLIRKMKL	ILSSGSDEEC	AICLDSLTVP	VITHCAHVFC
790	800	810	820	830	840
KPCICQVIQN	EQPHAKCPLC	RNDIHEDNLL	ECPPEELARD	SEKKSDMEWT	SSSKINALMH
850	860	870	880	890	900
ALTDLRKKNP	NIKSLVVSQF	TTFLSLIEIP	LKASGFVFTR	LDGSMAQKKR	VESIQCFQNT
910	920	930	940	950	960
EAGSPTIMLL	SLKAGGVGLN	LSAASRVFLM	DPAWNPAAED	QCFDRCHRLG	QKQEVIITKF
970	980	990	1000
IVKDSVEENM	LKIQNKKREL	AAGAFGTKKP	NADEMKQAKI	NEIRTLIDL