AiPD: Autoinhibited Protein Database

Q14839

Gene name	CHD4
Protein name	Chromodomain-helicase-DNA-binding protein 4
Names	CHD-4, ATP-dependent helicase CHD4, Mi-2 autoantigen 218 kDa protein, Mi2-beta
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1108
EC number	3.6.4.12: Acting on ATP; involved in cellular and subcellular movement
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-165 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-165 (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

13 structures for Q14839

Entry ID	Method	Resolution	Chain	Position	Source
1MM2	NMR	-	A	446-501	PDB
1MM3	NMR	-	A	446-501	PDB
2EE1	NMR	-	A	618-674	PDB
2L5U	NMR	-	A	365-420	PDB
2L75	NMR	-	A	446-501	PDB
2N5N	NMR	-	A	145-225	PDB
4O9I	X-ray	260 A	X	499-677	PDB
6BGG	NMR	-	A	290-301	PDB
6Q3M	X-ray	252 A	A/B/C/D	444-679	PDB
6RYR	EM	310 A	W	1-1912	PDB
6RYU	EM	400 A	V/W	1-1912	PDB
8D4Y	X-ray	290 A	A/B	1380-1810	PDB
AF-Q14839-F1	Predicted				AlphaFoldDB

888 variants for Q14839

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001261727 rs1948698590	8	P>S	Moyamoya angiopathy with developmental delay [ClinVar]	Yes	ClinVar dbSNP
rs1948696599 RCV001252454	29	P>S	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
RCV001335797 rs751585626 CA6412562	80	R>Q	Sifrim-Hitz-Weiss syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1948594914 RCV001331857	149	K>I	Sifrim-Hitz-Weiss syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001254126 rs1948590484	213	S>G	Sifrim-Hitz-Weiss syndrome [ClinVar]	Yes	ClinVar dbSNP
CA232398721 rs375234607 RCV001261728	494	T>M	Moyamoya angiopathy with developmental delay [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
RCV001255698 rs1948453702	730	Q>R	Sifrim-Hitz-Weiss syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1948436363 RCV001263459	789	N>I	Sifrim-Hitz-Weiss syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001198908 rs1948434895	826	N>K	Sifrim-Hitz-Weiss syndrome [ClinVar]	Yes	ClinVar dbSNP
VAR_077146 rs886039916 RCV000257090 CA10588997	851	S>Y	Sifrim-Hitz-Weiss syndrome SIHIWES [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000520749 rs1555170507 RCV003128408	888	V>missing	CHD4-Related Disorder [ClinVar]	Yes	ClinVar dbSNP
rs1592273799 CA383587182 RCV001028101	993	N>S	Sifrim-Hitz-Weiss syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_077147	1003	G>D	SIHIWES [UniProt]	Yes	UniProt
RCV001266305 rs1948408037	1016	K>N	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs886039915 RCV000256595 VAR_077148 CA10588996 RCV000624678	1068	R>H	Sifrim-Hitz-Weiss syndrome Inborn genetic diseases SIHIWES [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1948400115 RCV001335798	1103	N>T	Sifrim-Hitz-Weiss syndrome [ClinVar]	Yes	ClinVar dbSNP
VAR_077149 rs886039917 CA10588998 RCV000257626	1127	R>Q	Sifrim-Hitz-Weiss syndrome SIHIWES; no effect on interaction with HDAC1; no effect on nuclear localization [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1592270989 RCV000988778 CA383582790	1135	L>V	Sifrim-Hitz-Weiss syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001264743 rs1948336129	1137	T>P	Sifrim-Hitz-Weiss syndrome [ClinVar]	Yes	ClinVar dbSNP
rs886039919 CA10589000 VAR_077150 RCV000257253	1148	W>L	Sifrim-Hitz-Weiss syndrome SIHIWES [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000256716 CA10588999 rs886039918 VAR_077151	1173	R>L	Sifrim-Hitz-Weiss syndrome SIHIWES; no effect on interaction with HDAC1; no effect on nuclear localization [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001266819 rs886039918 RCV001310987	1173	R>Q	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs1948327010 RCV001331853	1173	R>W	Sifrim-Hitz-Weiss syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1435884753 RCV001261686 CA383582020	1178	A>V	Moyamoya angiopathy with developmental delay [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001331854 rs1948326612	1180	V>G	Sifrim-Hitz-Weiss syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1948326461 RCV001331855	1183	R>H	Sifrim-Hitz-Weiss syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1377989582 CA383581444 RCV000622567	1220	K>T	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1060499583 RCV000477959 CA16616922	1249	Y>D	Sifrim-Hitz-Weiss syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1274210289 RCV001331856	1326	Q>L	Sifrim-Hitz-Weiss syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001263356 rs963028335 CA232386840	1515	R>H	Global developmental delay [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001331858 rs1948181408	1594	C>R	Sifrim-Hitz-Weiss syndrome [ClinVar]	Yes	ClinVar dbSNP
VAR_077152 rs201992075 CA6411419 RCV000257639	1608	V>I	Sifrim-Hitz-Weiss syndrome SIHIWES; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA6411361 RCV000624352 rs754279009	1654	P>T	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1229933151 RCV001261730 CA383565196	1741	I>V	Moyamoya angiopathy with developmental delay [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001261731 CA6411260 rs777021265	1758	Y>C	Moyamoya angiopathy with developmental delay [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001261732 rs1947956104	1880	P>S	Moyamoya angiopathy with developmental delay [ClinVar]	Yes	ClinVar dbSNP
rs201121936 CA6411171 RCV001291827	1890	R>L	Sifrim-Hitz-Weiss syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP
rs775138409 CA6412684	2	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1565622346 RCV000761817 CA383606208	2	A>V		No	ClinGen ClinVar Ensembl dbSNP
CA383606205 rs1419728062	3	S>A		No	ClinGen gnomAD
CA6412682 rs745607267	4	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1220173964 CA383606192	5	L>R		No	ClinGen TOPMed
rs777986787 CA6412678	8	P>L		No	ClinGen ExAC TOPMed gnomAD
rs777986787 CA6412679	8	P>R		No	ClinGen ExAC TOPMed gnomAD
rs748350791 CA6412676	9	S>F		No	ClinGen ExAC gnomAD
rs748350791 CA6412677	9	S>Y		No	ClinGen ExAC gnomAD
CA383606167 rs781428370	10	P>L		No	ClinGen ExAC gnomAD
CA6412675 rs781428370	10	P>R		No	ClinGen ExAC gnomAD
CA6412674 rs755349043	11	C>W		No	ClinGen ExAC TOPMed gnomAD
CA383606163 rs1320300442	11	C>Y		No	ClinGen gnomAD
CA383606154 rs1216024595	12	S>L		No	ClinGen gnomAD
CA6412673 rs751893060	13	A>S		No	ClinGen ExAC gnomAD
CA6412672 rs147397787	13	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA383606146 rs1164133287	14	G>D		No	ClinGen TOPMed
rs763513049 CA6412669	15	S>G		No	ClinGen ExAC gnomAD
rs1172764864 CA383606131	16	E>D		No	ClinGen gnomAD
rs775024529 CA6412667	16	E>G		No	ClinGen ExAC gnomAD
CA383606129 rs1429409017	17	E>K		No	ClinGen gnomAD
rs767174370 CA6412666	18	E>K		No	ClinGen ExAC gnomAD
CA6412664 rs774282876	19	D>G		No	ClinGen ExAC gnomAD
CA6412665 rs374378695	19	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs771049777 CA6412663	20	M>I		No	ClinGen ExAC gnomAD
rs1253488208 CA383606104	20	M>T		No	ClinGen gnomAD
rs1487695612 CA383606107	20	M>V		No	ClinGen gnomAD
CA6412662 rs749251148	21	D>N		No	ClinGen ExAC gnomAD
rs773161450 CA6412661	22	A>T		No	ClinGen ExAC gnomAD
rs1372572634 CA383606087	23	L>V		No	ClinGen gnomAD
CA6412659 rs748237657	24	L>F		No	ClinGen ExAC TOPMed gnomAD
rs781312737 CA6412658	25	N>K		No	ClinGen ExAC gnomAD
rs755191349 CA6412657	26	N>D		No	ClinGen ExAC TOPMed gnomAD
rs780413744 CA6412656	26	N>I		No	ClinGen ExAC TOPMed gnomAD
rs780413744 CA6412655	26	N>S		No	ClinGen ExAC TOPMed gnomAD
CA232404031 rs966361685	28	L>M		No	ClinGen gnomAD
rs966361685 CA383606056	28	L>V		No	ClinGen gnomAD
CA383606049 rs1395818002	29	P>H		No	ClinGen TOPMed gnomAD
rs1395818002 CA383606047	29	P>L		No	ClinGen TOPMed gnomAD
CA6412650 rs752218285	30	P>L		No	ClinGen ExAC TOPMed gnomAD
rs138912992 CA6412648	31	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs138912992 CA383606038	31	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs138912992 CA6412649	31	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA383606039 rs1178075414	31	P>S		No	ClinGen gnomAD
CA383606037 rs1486120121	32	H>N		No	ClinGen Ensembl
CA6412646 rs766309247	32	H>P		No	ClinGen ExAC gnomAD
rs762788560 CA6412645	33	P>L		No	ClinGen ExAC TOPMed gnomAD
CA232401103 rs938695963	34	E>A		No	ClinGen TOPMed gnomAD
CA383605627 rs938695963	34	E>G		No	ClinGen TOPMed gnomAD
CA6412623 rs768750436	35	N>D		No	ClinGen ExAC gnomAD
CA383605593 rs1186427639	37	E>K		No	ClinGen gnomAD
rs1482187971 CA383605579	38	D>N		No	ClinGen TOPMed
CA383605564 rs1263270201	39	P>A		No	ClinGen gnomAD
CA232401088 rs866742950	39	P>L		No	ClinGen gnomAD
CA383605563 rs1263270201	39	P>S		No	ClinGen gnomAD
CA383605546 rs1266176133	41	E>K		No	ClinGen TOPMed gnomAD
CA6412619 rs746282447	42	D>G		No	ClinGen ExAC gnomAD
rs779321114 CA6412618	44	S>T		No	ClinGen ExAC gnomAD
CA6412617 rs771142773	46	T>I		No	ClinGen ExAC TOPMed gnomAD
CA383605470 rs1328273528	47	E>D		No	ClinGen gnomAD
rs143206689 CA6412614	48	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143206689 CA6412615	48	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143206689 CA6412613	48	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6412612 rs779921079	49	P>A		No	ClinGen ExAC gnomAD
rs1387004937 CA383605428	52	K>R		No	ClinGen gnomAD
CA6412611 rs374271955	53	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA383605416 rs1171745254	54	K>E		No	ClinGen TOPMed
CA232401019 rs746824737	57	P>L		No	ClinGen TOPMed gnomAD
CA383605389 rs746824737	57	P>R		No	ClinGen TOPMed gnomAD
rs765089487 CA6412609	58	K>R		No	ClinGen ExAC gnomAD
rs753831942 CA6412607	61	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs959477683 CA232401001	61	R>W		No	ClinGen TOPMed gnomAD
CA6412605 rs370822253	62	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1382699926 CA383605326	63	P>R		No	ClinGen TOPMed
rs775541121 CA6412604	66	P>L		No	ClinGen ExAC gnomAD
rs775541121 CA383605294	66	P>R		No	ClinGen ExAC gnomAD
CA383605278 rs1420802708	68	S>G		No	ClinGen gnomAD
rs759816295 CA6412602	68	S>N		No	ClinGen ExAC gnomAD
rs1341668018 CA383605270	68	S>R		No	ClinGen gnomAD
rs774371323 CA6412601	69	K>R		No	ClinGen ExAC gnomAD
CA232400962 rs981951635	70	R>C		No	ClinGen TOPMed gnomAD
rs377735756 CA6412600	70	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA383605254 rs377735756	70	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA6412599 rs749592811	71	Q>P		No	ClinGen ExAC gnomAD
rs969071125 CA232400943	72	K>E		No	ClinGen Ensembl
rs773894753 CA6412598	72	K>R		No	ClinGen ExAC gnomAD
CA383605230 rs1232329265	73	K>E		No	ClinGen TOPMed
rs770418446 CA6412597	73	K>R		No	ClinGen ExAC gnomAD
rs746573192 CA6412596	74	E>K		No	ClinGen ExAC TOPMed gnomAD
rs779720833 CA6412595	74	E>V		No	ClinGen ExAC TOPMed gnomAD
CA383605168 rs749142192	75	R>C		No	ClinGen ExAC gnomAD
rs749142192 CA6412568	75	R>G		No	ClinGen ExAC gnomAD
CA6412566 rs755840734	75	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6412567 rs755840734	75	R>L		No	ClinGen ExAC TOPMed gnomAD
CA6412564 rs149561722	79	C>G		No	ClinGen ESP ExAC TOPMed
rs149561722 CA383605134	79	C>R		No	ClinGen ESP ExAC TOPMed
rs1482228965 CA383605126	79	C>Y		No	ClinGen gnomAD
CA383605117 rs751585626	80	R>L		No	ClinGen ExAC TOPMed gnomAD
CA6412563 rs201440607	80	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA6412561 rs766680001	83	G>R		No	ClinGen ExAC TOPMed gnomAD
rs202139891 CA6412559	84	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1296702327 CA383605077	84	D>V		No	ClinGen gnomAD
rs1277059070 CA383605084	84	D>Y		No	ClinGen gnomAD
CA6412555 rs777330785	91	E>K		No	ClinGen ExAC gnomAD
rs769017025 CA6412554	93	V>L		No	ClinGen ExAC TOPMed gnomAD
CA383604981 rs769017025	93	V>M		No	ClinGen ExAC TOPMed gnomAD
CA6412553 rs759155947	97	E>K		No	ClinGen ExAC gnomAD
rs770418109 CA6412551	98	E>G		No	ClinGen ExAC gnomAD
CA232400532 rs949246400	99	V>L		No	ClinGen TOPMed
CA383604887 rs1389080999	101	L>P		No	ClinGen gnomAD
rs1402444433 CA383604892	101	L>V		No	ClinGen TOPMed gnomAD
CA6412550 rs138116135	102	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs150404906 CA6412549	102	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1592283381 CA383604880	103	S>T		No	ClinGen Ensembl
CA383604854 rs1420236020	106	E>G		No	ClinGen gnomAD
rs1294623983 CA383604847	107	G>D		No	ClinGen TOPMed
COSM942764 CA232400515 rs975815653 COSM1586680	109	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA383604802 rs1218545996	111	T>I		No	ClinGen gnomAD
CA383604798 rs1218545996	111	T>S		No	ClinGen gnomAD
CA6412547 rs747906347	112	P>L		No	ClinGen ExAC gnomAD
CA383604783 rs781255920	113	G>D		No	ClinGen ExAC TOPMed gnomAD
CA6412546 rs781255920	113	G>V		No	ClinGen ExAC TOPMed gnomAD
CA6412545 rs754857206	114	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs373847415 CA232400493	117	K>N		No	ClinGen ESP TOPMed gnomAD
CA6412543 rs779999675	119	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA6412541 rs1173487990	120	L>F		No	ClinGen TOPMed
rs1389198668 CA383604683	122	P>A		No	ClinGen gnomAD
CA6412539 rs549141497	122	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA6412538 rs371268726	124	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6412537 rs765530207	125	E>D		No	ClinGen ExAC gnomAD
CA383604652 rs1396469404	125	E>K		No	ClinGen gnomAD
rs1405054659 CA383604636	126	K>R		No	ClinGen TOPMed gnomAD
rs754152386 CA6412535	130	S>F		No	ClinGen ExAC gnomAD
rs761102450 CA6412533	132	R>G		No	ClinGen ExAC TOPMed gnomAD
rs776001431 CA6412532	132	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs761102450 CA232400455	132	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6412531 rs762401869	133	K>E		No	ClinGen ExAC gnomAD
rs762401869 CA6412530	133	K>Q		No	ClinGen ExAC gnomAD
rs1320680008 CA383604546	134	E>D		No	ClinGen TOPMed gnomAD
CA383604534 rs1229919546	135	E>D		No	ClinGen gnomAD
CA383604522 rs1276978668	136	E>D		No	ClinGen TOPMed
rs150832622 CA6412527 CA383604497 RCV000926788	138	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD ClinVar dbSNP
rs1458616696 CA383604492	139	E>*		No	ClinGen Ensembl
rs1639122 CA6412525 CA6412526 VAR_031674	139	E>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP
RCV001818645 rs74790047 CA6412521 RCV000888424	140	D>E		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP
CA383604478 rs1332517919	140	D>G		No	ClinGen TOPMed gnomAD
CA383604464 COSM1586681 rs1372894278 COSM942762	141	D>E	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA383604468 rs1432897757	141	D>G		No	ClinGen gnomAD
rs1293844195 CA383604462	142	D>H		No	ClinGen gnomAD
CA383604444 rs768429912	143	D>G		No	ClinGen ExAC gnomAD
CA6412518 rs768429912	143	D>V		No	ClinGen ExAC gnomAD
rs894630979 CA232400355	144	D>E		No	ClinGen gnomAD
rs1394252975 CA383604432	144	D>Y		No	ClinGen TOPMed
rs1358073566 CA383604391	146	K>E		No	ClinGen TOPMed
CA6412484 rs749506496	147	E>D		No	ClinGen ExAC TOPMed gnomAD
CA232400198 rs1016175546	150	S>L		No	ClinGen TOPMed
rs1232495370 CA383604217	153	Q>E		No	ClinGen gnomAD
rs192058128 CA6412480	156	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1286720724 CA383604014	164	D>G		No	ClinGen gnomAD
CA6412476 rs776192770	166	V>A		No	ClinGen ExAC gnomAD
rs776192770 CA6412475	166	V>G		No	ClinGen ExAC gnomAD
rs141366600 CA6412477	166	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA383603936 rs1369746463	169	E>G		No	ClinGen gnomAD
CA232400192 rs1002138474	173	R>Q		No	ClinGen TOPMed
CA6412473 rs770297208	180	A>T		No	ClinGen ExAC TOPMed gnomAD
CA6412472 rs775416082	184	F>C		No	ClinGen ExAC gnomAD
CA6412454 rs760392657	187	P>S		No	ClinGen ExAC gnomAD
CA383603588 rs1266083901	189	I>V		No	ClinGen gnomAD
CA6412451 rs759356507	197	A>V		No	ClinGen ExAC gnomAD
CA383603455 rs1413635991	199	S>P		No	ClinGen Ensembl
CA383603436 rs1357242435	200	K>R		No	ClinGen gnomAD
CA383603344 rs1156927798	204	V>I		No	ClinGen TOPMed
rs1242641410 CA383603251	210	R>W		No	ClinGen gnomAD
CA6412450 rs774481284	211	E>G		No	ClinGen ExAC gnomAD
rs1592282681 CA383603209	212	F>V		No	ClinGen Ensembl
rs1592282675 CA383603133	216	N>T		No	ClinGen Ensembl
CA383603099 rs1363453873	218	F>L		No	ClinGen gnomAD
CA383603021 rs1325878497	223	G>V		No	ClinGen gnomAD
CA383602988 rs1592282660	226	V>G		No	ClinGen Ensembl
CA383602968 rs1390952876	228	A>G		No	ClinGen gnomAD
rs1169134011 CA383602914	233	A>V		No	ClinGen gnomAD
CA383602904 rs1592282626	234	V>G		No	ClinGen Ensembl
rs781341074 CA6412444	236	V>M		No	ClinGen ExAC gnomAD
rs1592282615 CA383602873	237	V>G		No	ClinGen Ensembl
CA6412442 rs747340253	238	E>Q		No	ClinGen ExAC gnomAD
CA6412441 rs200253186	240	M>T		No	ClinGen ExAC gnomAD
CA232400068 rs989061413	241	V>G		No	ClinGen Ensembl
rs1592282588 CA383602805	242	T>I		No	ClinGen Ensembl
rs1592282599 CA383602812	242	T>P		No	ClinGen Ensembl
rs1266921042 CA383602747	247	A>V		No	ClinGen gnomAD
rs368236345 CA383602735	248	P>L		No	ClinGen ESP TOPMed gnomAD
rs368236345 CA232400033	248	P>Q		No	ClinGen ESP TOPMed gnomAD
rs1370771813 CA383602724	249	P>L		No	ClinGen gnomAD
CA6412437 rs375481328	250	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6412435 rs767257985	251	P>A		No	ClinGen ExAC TOPMed gnomAD
CA6412434 rs759444267	251	P>H		No	ClinGen ExAC TOPMed gnomAD
rs751395634 CA383602704	252	P>A		No	ClinGen ExAC gnomAD
CA383602702 rs1322428031	252	P>L		No	ClinGen gnomAD
CA6412433 rs751395634	252	P>T		No	ClinGen ExAC gnomAD
CA6412431 rs766029032	253	V>A		No	ClinGen ExAC gnomAD
CA383602668 rs1592282500	255	V>G		No	ClinGen Ensembl
rs762951792 CA6412430	255	V>L		No	ClinGen ExAC gnomAD
rs769937640 CA6412428	257	I>V		No	ClinGen ExAC gnomAD
rs1254024057 CA383602653 COSM1704975 COSM1704976	258	R>C	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1254024057 CA383602654	258	R>G		No	ClinGen TOPMed
CA383602595 RCV001310988 rs1478217768	266	K>R		No	ClinGen ClinVar dbSNP gnomAD
CA383602572 rs1268339310	268	P>S		No	ClinGen gnomAD
rs145435159 CA6412402	269	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1285390883 CA383602553	271	R>Q		No	ClinGen gnomAD
CA6412401 rs771560867	271	R>W		No	ClinGen ExAC gnomAD
rs747719184 CA6412400	272	R>T		No	ClinGen ExAC gnomAD
CA383602534 rs1339766143	274	P>S		No	ClinGen gnomAD
rs1334633750 CA383602526	275	K>R		No	ClinGen TOPMed gnomAD
CA6412399 rs148588653	276	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375091307 CA6412398	277	S>G		No	ClinGen ESP ExAC gnomAD
rs1565618163 CA383602515	277	S>I		No	ClinGen Ensembl
CA6412397 rs746694342	278	P>S		No	ClinGen ExAC gnomAD
rs779549418 CA6412396	279	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1182449827 CA383602502	279	R>H		No	ClinGen gnomAD
CA383602503 rs1182449827	279	R>L		No	ClinGen gnomAD
rs940372793 CA232399749	281	P>L		No	ClinGen TOPMed gnomAD
CA6412394 rs750177796	283	A>G		No	ClinGen ExAC gnomAD
CA383602459 rs1191100400	286	P>A		No	ClinGen gnomAD
CA383602453 rs1465630628	287	K>E		No	ClinGen gnomAD
COSM1476841 COSM431714 CA383602387 rs1314696153	296	I>M	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1228342695 CA383602364	300	G>D		No	ClinGen gnomAD
rs757195889 CA6412392	300	G>S		No	ClinGen ExAC gnomAD
CA6412391 rs753712557	302	G>D		No	ClinGen ExAC gnomAD
rs267603638 CA232399722	303	S>F		No	ClinGen Ensembl
COSM942756 CA383602098 rs1437274383 COSM1586684	305	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA6412389 rs760698915	305	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6412388 rs775834050	306	K>E		No	ClinGen ExAC gnomAD
CA383602052 rs1269921869	309	S>L		No	ClinGen TOPMed
CA6412354 rs774873519	314	D>Y		No	ClinGen ExAC gnomAD
rs866728153 CA232399272	315	L>F		No	ClinGen TOPMed
rs1372455822 CA383601965	318	E>K		No	ClinGen TOPMed
rs771541830 CA6412353	319	S>F		No	ClinGen ExAC gnomAD
rs745540978 CA6412352	321	F>C		No	ClinGen ExAC gnomAD
rs1468078805 CA383601937	322	D>N		No	ClinGen gnomAD
rs770766385 CA6412350	322	D>V		No	ClinGen ExAC gnomAD
rs1468078805 CA383601935	322	D>Y		No	ClinGen gnomAD
CA383601920 rs1485434659	324	A>S		No	ClinGen gnomAD
rs1279632350 CA383601912	325	S>T		No	ClinGen gnomAD
rs777754553 CA6412348	326	I>M		No	ClinGen ExAC gnomAD
CA232399210 rs922117666	327	N>I		No	ClinGen Ensembl
rs936172107 CA232399211	327	N>Y		No	ClinGen TOPMed
CA383601884 rs1426710056	329	Y>C		No	ClinGen TOPMed gnomAD
CA383601885 rs1426710056	329	Y>S		No	ClinGen TOPMed gnomAD
rs974810676 CA232399209	330	S>F		No	ClinGen Ensembl
CA383601868 rs1251225540	332	S>P		No	ClinGen gnomAD
rs1299427567 CA383601858	333	D>V		No	ClinGen TOPMed
rs752624787 CA6412346	334	G>V		No	ClinGen ExAC
rs781138057 CA6412345	335	S>P		No	ClinGen ExAC gnomAD
rs201534121 CA383601845	336	T>A		No	ClinGen ExAC TOPMed gnomAD
rs201534121 CA6412344	336	T>P		No	ClinGen ExAC TOPMed gnomAD
rs751877653 CA6412342	338	R>C		No	ClinGen ExAC gnomAD
rs1202748112 CA383601830	338	R>H		No	ClinGen TOPMed gnomAD
CA383601825 rs1189436309	339	S>G		No	ClinGen TOPMed
CA383601822 rs1321221196	339	S>I		No	ClinGen gnomAD
CA383601826 rs1189436309	339	S>R		No	ClinGen TOPMed
CA383601808 rs1270212341	341	R>H		No	ClinGen gnomAD
rs1335229538 CA383601804	342	S>G		No	ClinGen gnomAD
rs763477403 CA6412340	342	S>N		No	ClinGen ExAC TOPMed gnomAD
rs765576027 CA6412338	343	R>C		No	ClinGen ExAC gnomAD
rs1336675110 CA383601796	343	R>H		No	ClinGen gnomAD
CA383601777 rs1565617550	346	L>F		No	ClinGen Ensembl
rs771507071 CA6412335	348	T>I		No	ClinGen ExAC gnomAD
CA6412334 rs774036270	349	T>I		No	ClinGen ExAC TOPMed gnomAD
CA6412333 rs774036270	349	T>N		No	ClinGen ExAC TOPMed gnomAD
rs770570083 CA6412332	351	K>R		No	ClinGen ExAC TOPMed gnomAD
rs867213835 CA232399149	353	K>N		No	ClinGen TOPMed gnomAD
rs144876223 CA6412309	355	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1182958622 CA383601717	355	G>S		No	ClinGen gnomAD
CA383601690 rs1315784989	357	E>A		No	ClinGen gnomAD
rs1592281423 CA383601694	357	E>K		No	ClinGen Ensembl
rs780281349 CA6412306	359	V>M		No	ClinGen ExAC gnomAD
rs1592281404 CA383601663	361	A>G		No	ClinGen Ensembl
CA6412304 rs746112629	362	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1592281379 CA383601585	371	D>N		No	ClinGen Ensembl
CA383601523 rs1592281361	375	V>G		No	ClinGen Ensembl
rs528161710 CA6412302	375	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA383601480 rs1184340091	378	Q>H		No	ClinGen TOPMed
rs1480848940 CA383601429	383	I>V		No	ClinGen gnomAD
rs756628084 CA6412299	390	R>H		No	ClinGen ExAC gnomAD
CA383601344 rs756628084	390	R>L		No	ClinGen ExAC gnomAD
rs765907058 CA6412297	400	D>N		No	ClinGen ExAC gnomAD
rs1337837256 CA383601199	401	M>I		No	ClinGen gnomAD
rs1565617287 CA383601191	402	E>G		No	ClinGen Ensembl
rs377488166 CA6412295	406	E>K		No	ClinGen ESP ExAC gnomAD
CA383601122 rs1333764520	408	K>Q		No	ClinGen gnomAD
rs1329450548 CA383601048	413	H>R		No	ClinGen gnomAD
rs111256213 CA232398798	417	E>D		No	ClinGen Ensembl
rs760521781 CA6412272	419	I>T		No	ClinGen ExAC gnomAD
CA383600922 rs1437046635	422	E>G		No	ClinGen gnomAD
CA6412271 rs372747762	424	K>E		No	ClinGen ESP ExAC gnomAD
CA383600901 rs1265725344	425	E>G		No	ClinGen Ensembl
CA383600896 rs1398991397	426	D>N		No	ClinGen gnomAD
CA6412268 rs147387698	428	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs147387698 CA6412267	428	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA383600822 rs1280585417	436	E>D		No	ClinGen TOPMed
rs770181976 CA6412264	436	E>V		No	ClinGen ExAC gnomAD
rs1315086872 CA383600813	438	G>W		No	ClinGen TOPMed
CA6412263 rs748505910	441	L>F		No	ClinGen ExAC TOPMed gnomAD
CA6412261 rs751939837	442	E>D		No	ClinGen ExAC TOPMed gnomAD
CA232398745 rs969972577	442	E>K		No	ClinGen TOPMed
RCV000513163 CA383600758 rs1555174358	446	D>N		No	ClinGen ClinVar Ensembl dbSNP
CA383600750 rs1293254931	447	H>D		No	ClinGen gnomAD
rs1358590819 CA383600695	454	V>L		No	ClinGen gnomAD
rs1269823730 CA383600621	461	L>V		No	ClinGen gnomAD
CA6412254 rs752531665	466	T>I		No	ClinGen ExAC gnomAD
CA383600529 rs1592280934	466	T>P		No	ClinGen Ensembl
CA6412252 rs187920601	474	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1419328055 CA383600356	479	P>A		No	ClinGen gnomAD
rs1185160288 CA383600313	482	E>Q		No	ClinGen gnomAD
CA6412250 rs766504203	483	I>N		No	ClinGen ExAC
CA383600248 rs1270632767	485	N>S		No	ClinGen TOPMed gnomAD
rs769989060 CA6412247	492	R>C		No	ClinGen ExAC gnomAD
CA383600077 rs1289461596	492	R>H		No	ClinGen gnomAD
rs375234607 CA383600045	494	T>R		No	ClinGen ESP TOPMed gnomAD
rs1487044499 CA383599273	495	C>S		No	ClinGen gnomAD
RCV000782073 CA383599255 rs1226303367	496	P>A		No	ClinGen ClinVar TOPMed dbSNP
CA232396582 rs867146838	500	G>S		No	ClinGen Ensembl
CA6412212 rs758272043	504	K>N		No	ClinGen ExAC gnomAD
rs868530865 CA232396569	505	I>S		No	ClinGen Ensembl
rs753240551 CA232396568	507	I>T		No	ClinGen Ensembl
rs1248874069 CA383599069	509	K>Q		No	ClinGen gnomAD
rs750321093 CA6412211	511	G>S		No	ClinGen ExAC TOPMed gnomAD
CA6412210 rs765319548	511	G>V		No	ClinGen ExAC TOPMed gnomAD
CA383598967 rs1216957553	515	S>P		No	ClinGen TOPMed gnomAD
CA6412208 rs754096136	516	P>L		No	ClinGen ExAC TOPMed gnomAD
CA383598932 rs1277837082	517	T>I		No	ClinGen TOPMed gnomAD
CA232396510 rs1020122261	519	V>L		No	ClinGen TOPMed
rs918342140 CA232396503	520	P>L		No	ClinGen gnomAD
CA383598889 rs1156336984	521	R>Q		No	ClinGen gnomAD
CA6412206 rs761162911	521	R>W		No	ClinGen ExAC gnomAD
rs1446302277 CA383598879	522	P>L		No	ClinGen gnomAD
rs1368158728 CA383598867	523	P>L		No	ClinGen TOPMed gnomAD
CA6412205 rs775734371	523	P>S		No	ClinGen ExAC TOPMed gnomAD
rs752750067 CA6412204	524	D>A		No	ClinGen ExAC TOPMed gnomAD
CA232396476 rs1037971289	525	A>T		No	ClinGen Ensembl
rs941049824 CA232396460	525	A>V		No	ClinGen Ensembl
rs774951254 CA6412202	526	D>G		No	ClinGen ExAC gnomAD
rs760156045 CA6412203	526	D>N		No	ClinGen ExAC
rs926986340 CA232396445	527	P>A		No	ClinGen Ensembl
CA6412201 rs769479484	527	P>H		No	ClinGen ExAC gnomAD
rs371336037 CA6412200	528	N>S		No	ClinGen ExAC TOPMed gnomAD
CA6412198 rs567879649	529	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6412195 rs758136003	531	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1244201059 CA383598761	532	P>S		No	ClinGen TOPMed gnomAD
CA383598712 rs1216296809	536	E>G		No	ClinGen TOPMed
rs750405242 CA6412194	543	F>V		No	ClinGen ExAC gnomAD
rs969702116 CA232396411	544	F>L		No	ClinGen TOPMed gnomAD
rs778787649 CA6412193	544	F>L		No	ClinGen ExAC gnomAD
CA6412190 rs764178833	559	S>C		No	ClinGen ExAC gnomAD
rs1039661613 CA232396397	561	L>M		No	ClinGen TOPMed
rs372697811 CA6412163	566	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs760200517 CA6412161	568	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs1592279312 CA383598213	569	V>G		No	ClinGen Ensembl
rs1337410899 CA383598207	570	M>K		No	ClinGen gnomAD
CA6412158 rs745467712	576	R>Q		No	ClinGen ExAC gnomAD
CA383598113 rs1468793092	580	M>V		No	ClinGen TOPMed
rs1278852168 CA383598050	585	S>F		No	ClinGen gnomAD
rs774138764 CA6412157	586	G>W		No	ClinGen ExAC gnomAD
RCV000782027 CA383598009 rs1565615605	589	G>A		No	ClinGen ClinVar Ensembl dbSNP
rs1428899806 CA383597994	591	D>G		No	ClinGen gnomAD
rs749205441 CA6412155	592	E>A		No	ClinGen ExAC gnomAD
rs981885839 CA232396248	593	E>K		No	ClinGen TOPMed
CA6412154 rs777748998	595	S>G		No	ClinGen ExAC gnomAD
CA383597950 rs1364851454	595	S>T		No	ClinGen gnomAD
CA232396244 rs201738406	596	R>Q		No	ClinGen Ensembl
rs756192147 CA6412153	598	R>Q		No	ClinGen ExAC gnomAD
CA383597892 rs144662304	600	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1302527751 CA383597860	603	P>S		No	ClinGen TOPMed gnomAD
rs1020384975 CA232396238	608	M>L		No	ClinGen TOPMed
CA383597792 rs1449182984	609	E>Q		No	ClinGen gnomAD
CA383597770 rs1565615563	610	E>D		No	ClinGen Ensembl
rs751788491 CA6412149	611	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6412148 rs766869323	613	Y>F		No	ClinGen ExAC gnomAD
rs369228909 CA6412147	614	R>C		No	ClinGen ExAC gnomAD
rs1441230212 CA383597717	614	R>H		No	ClinGen TOPMed
CA383597702 rs1279705701	615	Y>C		No	ClinGen TOPMed
CA232396234 rs905528569	617	I>V		No	ClinGen Ensembl
rs1592279196 CA383597649	618	K>N		No	ClinGen Ensembl
CA383597626 rs1592279181	620	E>K		No	ClinGen Ensembl
CA383597519 rs1565615515	625	H>Y		No	ClinGen Ensembl
CA383597487 rs1374578320	626	R>*		No	ClinGen gnomAD
CA383597482 rs759218992	627	I>L		No	ClinGen ExAC gnomAD
CA383597478 rs1223972111	627	I>T		No	ClinGen TOPMed
CA6412141 rs759218992	627	I>V		No	ClinGen ExAC gnomAD
rs1168601176 CA383596547	633	D>E		No	ClinGen TOPMed
rs780481387 CA6412113	633	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1399566098 CA383596535	634	K>R		No	ClinGen TOPMed
CA383596469 rs200657308	637	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6412111 rs746008542	638	V>I		No	ClinGen ExAC gnomAD
CA232394715 rs1052367083	639	H>Y		No	ClinGen TOPMed gnomAD
CA383596341 rs1356961959	645	R>Q		No	ClinGen TOPMed
CA383596319 rs1303850591	646	D>E		No	ClinGen gnomAD
rs1592277122 CA383596330	646	D>G		No	ClinGen Ensembl
CA383596299 rs1404806824	648	P>L		No	ClinGen gnomAD
CA383596227 rs1206041232	652	A>V		No	ClinGen TOPMed
CA383596221 rs1482583979	653	S>A		No	ClinGen TOPMed
rs867972941 CA232394713	654	W>L		No	ClinGen Ensembl
CA383596137 rs1565614195	658	D>H		No	ClinGen Ensembl
rs757516960 CA6412109	660	E>Q		No	ClinGen ExAC gnomAD
CA6412107 rs778223209	665	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1270348065 CA383596048	665	D>N		No	ClinGen gnomAD
CA6412106 rs751060480 CA6412105	667	F>L		No	ClinGen ExAC TOPMed gnomAD
CA232394674 rs931742693	668	K>R		No	ClinGen TOPMed
CA6412104 rs765752721	672	W>C		No	ClinGen ExAC gnomAD
CA232394646 rs996040591	674	H>Q		No	ClinGen TOPMed
rs995007482 CA232394057	678	M>L		No	ClinGen TOPMed
rs774702950 CA6412063	679	R>K		No	ClinGen ExAC gnomAD
CA383595826 rs1200147946	680	G>C		No	ClinGen gnomAD
rs771132265 CA6412062	680	G>V		No	ClinGen ExAC TOPMed gnomAD
CA383595820 rs1216633894	681	E>G		No	ClinGen gnomAD
rs1948470527 RCV001344385	684	R>*		No	ClinVar dbSNP
rs377238334 CA6412061	684	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6412060 rs773573339	685	P>S		No	ClinGen ExAC gnomAD
rs770106384 CA6412059	686	G>V		No	ClinGen ExAC gnomAD
rs748735931 CA6412058	688	K>R		No	ClinGen ExAC gnomAD
rs1592276286 CA383595750	689	L>F		No	ClinGen Ensembl
rs1290066088 CA383595709	693	K>E		No	ClinGen gnomAD
CA383595692 rs1419830123	695	R>W		No	ClinGen gnomAD
rs745353327 CA6412055	697	L>S		No	ClinGen ExAC gnomAD
CA6412054 rs778428775	698	E>Q		No	ClinGen ExAC gnomAD
CA383595645 rs1385566956	700	P>A		No	ClinGen gnomAD
CA383595622 rs1186578941	702	E>G		No	ClinGen gnomAD
rs201224992 CA6412053	703	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1055200091 CA232394022	705	T>A		No	ClinGen TOPMed gnomAD
CA6412030 rs777539073	709	T>A		No	ClinGen ExAC gnomAD
rs981819804 CA232393718	709	T>I		No	ClinGen Ensembl
rs754880034 CA6412026	722	T>A		No	ClinGen ExAC
rs1289871058 CA383594585	735	N>S		No	ClinGen TOPMed
rs762033904 CA6412020	738	R>C		No	ClinGen ExAC gnomAD
CA6412019 rs776864024	740	S>C		No	ClinGen ExAC gnomAD
rs1555171299 CA383594418 RCV000512877	750	A>V		No	ClinGen ClinVar Ensembl dbSNP
RCV000522910 rs1555171293 CA383594417	751	D>N		No	ClinGen ClinVar Ensembl dbSNP
CA383594272 rs1565613098	761	T>I		No	ClinGen Ensembl
CA383594263 rs1309662556	762	A>V		No	ClinGen gnomAD
CA6412012 rs747774721	765	L>V		No	ClinGen ExAC gnomAD
CA6411979 rs374451881	775	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs757337711 CA6411978	777	P>L		No	ClinGen ExAC gnomAD
rs1355877221 CA383593871	782	A>S		No	ClinGen gnomAD
rs1355877221 CA383593877	782	A>T		No	ClinGen gnomAD
CA383593783 rs1592274912	786	T>I		No	ClinGen Ensembl
rs1409893925 CA383593761	788	I>V		No	ClinGen TOPMed
CA383593572 rs1289621105	796	M>I		No	ClinGen TOPMed
CA232393026 rs568006107	799	P>S		No	ClinGen 1000Genomes
CA383593477 rs1592274879	801	M>L		No	ClinGen Ensembl
CA6411970 rs764706475	802	Y>H		No	ClinGen ExAC gnomAD
rs1405192813 CA383593410	804	V>I		No	ClinGen gnomAD
CA383593377 rs1161155760	806	Y>C		No	ClinGen gnomAD
rs746594662 CA6411966	811	D>Y		No	ClinGen ExAC
CA6411965 rs775293840	817	R>Q		No	ClinGen ExAC gnomAD
CA383592949 rs1221985211	826	N>D		No	ClinGen gnomAD
CA6411960 rs778878369	826	N>S		No	ClinGen ExAC gnomAD
CA383592907 rs1287981541	828	I>V		No	ClinGen gnomAD
rs1050753393 CA232392981	832	K>R		No	ClinGen Ensembl
CA383592722 rs1318884344	834	A>V		No	ClinGen gnomAD
rs933562750 CA232392976	836	R>C		No	ClinGen Ensembl
rs558343040 CA383592486	839	K>I		No	ClinGen 1000Genomes ExAC gnomAD
rs558343040 CA6411946	839	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA232392921 rs538196314	840	E>Q		No	ClinGen Ensembl
CA6411944 rs760341012	842	S>C		No	ClinGen ExAC gnomAD
rs1465105953 CA383592441	842	S>P		No	ClinGen TOPMed
rs775099272 CA6411943	843	V>L		No	ClinGen ExAC TOPMed gnomAD
CA232392916 rs199575698	859	M>V		No	ClinGen TOPMed gnomAD
rs774214001 CA383592027	861	I>F		No	ClinGen ExAC gnomAD
rs774214001 CA6411940	861	I>V		No	ClinGen ExAC gnomAD
rs1237797698 CA383591969	863	G>A		No	ClinGen gnomAD
CA383591934 rs770916644	865	I>L		No	ClinGen ExAC TOPMed gnomAD
CA383591919 rs1488707441	865	I>T		No	ClinGen gnomAD
CA6411939 rs770916644	865	I>V		No	ClinGen ExAC TOPMed gnomAD
CA383591861 rs1484361313	867	W>*		No	ClinGen gnomAD
rs150460854 CA232392911	869	C>G		No	ClinGen ESP TOPMed
rs1209703530 CA383591814	870	L>H		No	ClinGen TOPMed
CA383591785 rs1288827890	871	I>S		No	ClinGen gnomAD
rs1310931317 CA383591791	871	I>V		No	ClinGen gnomAD
rs748435011 CA6411935	875	A>S		No	ClinGen ExAC gnomAD
rs748435011 CA383591718	875	A>T		No	ClinGen ExAC gnomAD
CA383591624 rs1380935492	879	K>E		No	ClinGen gnomAD
CA383591555 rs1199052957	881	N>S		No	ClinGen TOPMed gnomAD
rs755447776 CA383591511 CA6411933	882	Q>H		No	ClinGen ExAC TOPMed gnomAD
RCV000480500 CA16619584 rs1064795878	887	R>W		No	ClinGen ClinVar Ensembl dbSNP
rs202233858 CA6411919	893	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1291678650 CA383591021	896	H>Y		No	ClinGen TOPMed
rs1483734685 CA383589156	908	N>S		No	ClinGen TOPMed
CA383588963 rs1488224189	919	L>F		No	ClinGen gnomAD
rs1211971264 CA383588945	920	T>I		No	ClinGen gnomAD
CA383588928 rs1265651561	921	P>L		No	ClinGen gnomAD
rs1489050642 CA383588942	921	P>T		No	ClinGen gnomAD
rs1064795757 RCV000482594 CA16619583	923	R>S		No	ClinGen ClinVar Ensembl dbSNP
rs141170312 CA232392727	925	H>Y		No	ClinGen ESP
rs1300281149 CA383588444	937	I>T		No	ClinGen gnomAD
RCV001171564 rs1948418309	954	M>I		No	ClinVar dbSNP
CA232392594 rs76359472	957	R>Q		No	ClinGen Ensembl
rs1592274093 CA383587997	958	L>V		No	ClinGen Ensembl
CA383587974 rs1592274084	959	K>Q		No	ClinGen Ensembl
rs199827281 CA6411886	960	A>T		No	ClinGen 1000Genomes ExAC gnomAD
RCV000419342 rs1057520911 CA16606376	966	M>K		No	ClinGen ClinVar Ensembl dbSNP
CA6411862 rs779545095	997	L>F		No	ClinGen ExAC
CA6411861 rs758014481	998	N>S		No	ClinGen ExAC TOPMed gnomAD
rs750043969 CA6411860	1000	R>*		No	ClinGen ExAC gnomAD
RCV000486916 rs1064794693	1017	K>missing		No	ClinVar dbSNP
rs1592273770 CA383586727	1020	N>T		No	ClinGen Ensembl
rs868286738 CA232392338	1022	P>S		No	ClinGen Ensembl
rs140410250 CA6411855	1030	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1369291416 CA383586376	1032	A>S		No	ClinGen TOPMed gnomAD
CA232392221 rs902695654	1034	K>Q		No	ClinGen Ensembl
RCV001172059 rs1948405987	1037	N>D		No	ClinVar dbSNP
CA383586226 rs1248197493	1039	M>T		No	ClinGen gnomAD
rs763108838 CA6411830	1040	Y>F		No	ClinGen ExAC gnomAD
rs1271554021 CA383585985	1048	A>V		No	ClinGen gnomAD
rs770143808 CA6411828	1049	S>C		No	ClinGen ExAC gnomAD
CA383585891 rs1272393961	1052	L>S		No	ClinGen gnomAD
CA383585860 rs1370403796	1053	L>S		No	ClinGen gnomAD
rs1187887015 CA383585830	1055	L>Q		No	ClinGen TOPMed
rs1264906886 CA383585719	1060	K>R		No	ClinGen TOPMed
CA383585634 rs1436254365	1064	E>*		No	ClinGen gnomAD
rs1369778252 CA383585627	1064	E>V		No	ClinGen gnomAD
CA232392198 rs1010994085	1065	G>D		No	ClinGen TOPMed
rs1176443003 CA383585493	1071	I>V		No	ClinGen TOPMed
CA6411802 rs748943517	1080	D>E		No	ClinGen ExAC gnomAD
rs1161664570 CA383585198	1084	D>E		No	ClinGen TOPMed
rs1348507173 CA383585157	1088	H>D		No	ClinGen TOPMed
CA383585125 rs1424218379	1090	G>S		No	ClinGen TOPMed
rs1948400672 RCV001174893	1095	R>C		No	ClinVar dbSNP
rs1308430527 CA383585064	1095	R>H		No	ClinGen gnomAD
CA383585007 rs1447338247	1100	I>V		No	ClinGen gnomAD
rs1299788328 CA383584878	1111	R>H		No	ClinGen gnomAD
CA6411772 rs769769680	1115	P>L		No	ClinGen ExAC gnomAD
CA6411770 rs745966223	1116	G>D		No	ClinGen ExAC gnomAD
rs1407404832 CA383582716	1142	I>T		No	ClinGen TOPMed
rs867637409 CA232388763	1151	H>Y		No	ClinGen Ensembl
CA383582155 rs1305046519	1171	I>V		No	ClinGen gnomAD
rs1565608957	1186	Q>P		No	Ensembl
rs761303485 CA6411735	1210	M>V		No	ClinGen ExAC gnomAD
rs1064796896 RCV000483734	1220	K>missing		No	ClinVar dbSNP
rs1377989582 CA383581442	1220	K>I		No	ClinGen TOPMed
CA383581403 rs1469032891	1224	E>G		No	ClinGen TOPMed
CA383581310 rs1336276662	1232	T>A		No	ClinGen TOPMed gnomAD
rs1299074409 CA383581199	1238	N>S		No	ClinGen TOPMed gnomAD
CA232388368 rs1030672608	1239	K>R		No	ClinGen Ensembl
rs776708445 CA6411701	1240	E>D		No	ClinGen ExAC gnomAD
rs769135264 CA6411700	1244	S>G		No	ClinGen ExAC gnomAD
CA383580966 rs1371509409	1256	R>W		No	ClinGen TOPMed
rs1398787153 CA383580874	1262	Q>R		No	ClinGen TOPMed
rs1334173385 CA383580862	1263	D>G		No	ClinGen gnomAD
CA383580866 rs1214385251	1263	D>H		No	ClinGen gnomAD
rs771203360 CA232388356	1264	E>D		No	ClinGen Ensembl
CA383580425 rs1327576213	1291	E>G		No	ClinGen gnomAD
rs776709332 CA6411683	1297	E>V		No	ClinGen ExAC gnomAD
rs1408144763 CA383577893	1298	V>I		No	ClinGen TOPMed gnomAD
CA6411682 rs768776001	1300	R>Q		No	ClinGen ExAC gnomAD
rs1342499555 CA383577859	1300	R>W		No	ClinGen TOPMed
rs760904570 CA6411681	1302	I>V		No	ClinGen ExAC gnomAD
CA383577522 rs1179022334	1319	R>W		No	ClinGen gnomAD
rs746423034 CA6411678	1323	E>D		No	ClinGen ExAC gnomAD
rs1274210289 CA383577400	1326	Q>R		No	ClinGen TOPMed
rs1345560849 CA383577384	1327	E>G		No	ClinGen TOPMed
CA383577329 rs374465950	1331	R>G		No	ClinGen ESP ExAC gnomAD
CA232387147 rs76527521	1344	N>S		No	ClinGen Ensembl
CA6411673 rs754606238	1351	E>Q		No	ClinGen ExAC gnomAD
CA383576930 rs1373342418	1352	D>E		No	ClinGen gnomAD
RCV001280738 rs1948225767	1353	R>Q		No	ClinVar dbSNP
rs749752548 CA6411656	1355	W>C		No	ClinGen ExAC gnomAD
rs1282915466 CA383576310	1357	D>G		No	ClinGen gnomAD
rs1414111870 CA383576197	1361	D>N		No	ClinGen gnomAD
CA383576155 CA383576164 rs1449254414	1362	N>K		No	ClinGen TOPMed gnomAD
rs768178662 CA6411654	1365	D>N		No	ClinGen ExAC gnomAD
rs1290450080 CA383576034	1368	V>M		No	ClinGen gnomAD
CA232387121 rs917553097	1371	E>G		No	ClinGen TOPMed gnomAD
CA6411653 rs746685075	1375	E>K		No	ClinGen ExAC gnomAD
CA383575833 rs1352766283	1380	R>H		No	ClinGen TOPMed
rs141631228 CA6411652	1383	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA6411633 rs775086431	1383	A>V		No	ClinGen ExAC gnomAD
CA6411632 rs771875799	1385	R>C		No	ClinGen ExAC gnomAD
CA383575712 rs1565605991	1385	R>H		No	ClinGen Ensembl
rs745481056 CA6411631	1386	R>K		No	ClinGen ExAC gnomAD
CA383575681 rs1236709688	1388	S>G		No	ClinGen gnomAD
CA383575615 rs1445064001	1393	R>Q		No	ClinGen gnomAD
rs1385229724 CA383575584	1395	D>E		No	ClinGen gnomAD
CA6411603 rs758495195	1428	I>V		No	ClinGen ExAC gnomAD
CA383575064 rs1224621906	1431	Y>H		No	ClinGen TOPMed
rs1332633442 CA383574996	1435	P>S		No	ClinGen gnomAD
CA383574928 rs1317986638	1438	A>V		No	ClinGen TOPMed
CA232387042 rs779121504	1440	T>S		No	ClinGen Ensembl
CA6411599 rs767196536	1445	V>I		No	ClinGen ExAC gnomAD
rs767196536 CA6411598	1445	V>L		No	ClinGen ExAC gnomAD
rs770630218 CA6411595	1446	R>K		No	ClinGen ExAC
rs1166928092 CA383574699	1452	S>*		No	ClinGen gnomAD
rs372219150 CA6411594	1453	E>D		No	ClinGen ESP ExAC gnomAD
rs1592265978 CA383574629	1456	F>V		No	ClinGen Ensembl
rs1362648020 CA383572943	1460	V>I		No	ClinGen gnomAD
rs1349218555 CA383572850	1463	F>S		No	ClinGen gnomAD
CA232386944 rs766008460	1464	M>T		No	ClinGen Ensembl
rs1321427698 CA383572797	1465	R>W		No	ClinGen gnomAD
CA6411568 rs780227031	1477	T>S		No	ClinGen ExAC gnomAD
CA383572258 rs1194324794	1491	H>L		No	ClinGen gnomAD
CA383572101 rs1245059412	1499	M>R		No	ClinGen gnomAD
CA383572104 rs1245059412	1499	M>T		No	ClinGen gnomAD
CA383572028 rs1438928727	1503	R>C		No	ClinGen gnomAD
CA383572024 rs1274325266	1503	R>H		No	ClinGen gnomAD
rs761393792 CA6411554	1506	V>I		No	ClinGen ExAC gnomAD
rs776444643 CA6411553	1507	Q>R		No	ClinGen ExAC gnomAD
rs775278280 CA6411550	1512	V>I		No	ClinGen ExAC TOPMed gnomAD
rs200017158 CA6411549	1515	R>C		No	ClinGen ExAC TOPMed gnomAD
rs972279442 CA232386839	1518	M>I		No	ClinGen gnomAD
rs1225030771 CA383571659	1520	E>K		No	ClinGen gnomAD
rs776080022 CA232386836	1522	A>S		No	ClinGen Ensembl
rs745941658 CA6411548	1522	A>V		No	ClinGen ExAC gnomAD
rs774516204 CA6411547	1527	N>D		No	ClinGen ExAC gnomAD
CA383571599 rs1565605163	1528	K>N		No	ClinGen Ensembl
rs771299383 CA6411546	1529	K>M		No	ClinGen ExAC TOPMed gnomAD
rs1401423455 CA383571584	1530	M>I		No	ClinGen gnomAD
CA6411543 rs778322862	1531	S>F		No	ClinGen ExAC gnomAD
rs550852941 CA6411542	1535	S>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1181692352 CA383571544	1537	S>P		No	ClinGen gnomAD
rs990829830 CA383571539	1538	P>A		No	ClinGen TOPMed
rs531136785 CA6411541	1538	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs990829830 CA232386823	1538	P>S		No	ClinGen TOPMed
rs1592265107 CA383571527	1540	T>P		No	ClinGen Ensembl
CA383571519 rs1329170985	1541	P>R		No	ClinGen TOPMed gnomAD
CA6411540 rs755444102	1541	P>S		No	ClinGen ExAC TOPMed gnomAD
CA6411539 rs755444102	1541	P>T		No	ClinGen ExAC TOPMed gnomAD
rs375106320 CA232386818	1542	T>I		No	ClinGen ESP TOPMed
CA383571512 rs568631475	1543	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1016423925 CA232386814	1543	P>L		No	ClinGen TOPMed
rs568631475 CA6411537	1543	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756946348 CA6411536	1544	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1490469028 CA383571500	1545	T>S		No	ClinGen Ensembl
rs1227587996 CA383571493	1546	P>R		No	ClinGen gnomAD
CA383571489 rs1377238928	1547	G>R		No	ClinGen gnomAD
COSM1363730 COSM1363731 CA383571491 rs1377238928	1547	G>W	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs764010606 CA6411534	1549	T>A		No	ClinGen ExAC gnomAD
CA6411533 rs760383433	1549	T>M		No	ClinGen ExAC gnomAD
rs775288338 CA6411532	1552	N>S		No	ClinGen ExAC TOPMed gnomAD
rs767371202 CA6411531	1553	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1164516240 CA383571436	1555	A>V		No	ClinGen TOPMed gnomAD
CA6411530 rs759471021	1556	P>A		No	ClinGen ExAC gnomAD
rs774602116 CA6411529	1556	P>L		No	ClinGen ExAC
rs1308724810 CA383571414	1559	P>L		No	ClinGen TOPMed
CA383571417 rs1422112976	1559	P>S		No	ClinGen gnomAD
CA383571413 rs1592265005	1560	A>T		No	ClinGen Ensembl
CA383571408 rs1565605016	1560	A>V		No	ClinGen Ensembl
rs754606685 CA6411469	1562	D>G		No	ClinGen ExAC TOPMed gnomAD
rs754606685 CA383571321	1562	D>V		No	ClinGen ExAC TOPMed gnomAD
rs749512768 CA232386715	1564	I>R		No	ClinGen TOPMed gnomAD
rs1456618856 CA383571240	1567	E>K		No	ClinGen gnomAD
rs1164775045 CA383571224	1568	E>K		No	ClinGen gnomAD
CA383571048 rs1466443462	1576	S>N		No	ClinGen gnomAD
rs1373628550 CA383571020	1577	I>V		No	ClinGen TOPMed
rs1248687013 CA383570989	1578	E>G		No	ClinGen gnomAD
CA383570967 rs1292568643	1579	G>A		No	ClinGen gnomAD
CA6411467 rs746810026	1579	G>R		No	ClinGen ExAC gnomAD
CA6411466 rs779943343	1580	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1356031766 CA383570897	1582	E>K		No	ClinGen gnomAD
CA383570883 rs1285532393	1583	V>I		No	ClinGen TOPMed
rs960717003 CA232386706	1585	S>F		No	ClinGen TOPMed
CA6411465 rs758439369	1585	S>P		No	ClinGen ExAC gnomAD
CA383570840 rs1366977058	1586	T>A		No	ClinGen gnomAD
rs750355009 CA6411464	1587	A>D		No	ClinGen ExAC TOPMed gnomAD
rs750355009 CA383570821	1587	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6411463 rs765295381	1588	P>S		No	ClinGen ExAC TOPMed gnomAD
rs376011163 CA232386700	1589	E>Q		No	ClinGen ESP
rs757358084 CA6411462	1590	T>I		No	ClinGen ExAC gnomAD
CA383570763 rs561803347	1592	I>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6411461 rs561803347	1592	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA383570641 rs200530735	1595	T>A		No	ClinGen 1000Genomes gnomAD
CA232386662 rs904678204	1595	T>I		No	ClinGen TOPMed gnomAD
CA232386664 rs200530735	1595	T>S		No	ClinGen 1000Genomes gnomAD
rs201417262 CA232386660	1596	Q>*		No	ClinGen 1000Genomes
rs763316829 CA6411429	1597	A>S		No	ClinGen ExAC gnomAD
rs776309576 CA6411428	1597	A>V		No	ClinGen ExAC gnomAD
rs768247783 CA6411427	1598	P>S		No	ClinGen ExAC TOPMed gnomAD
rs746720098 CA6411426	1599	A>V		No	ClinGen ExAC gnomAD
rs775280935 CA6411425	1600	P>S		No	ClinGen ExAC gnomAD
CA383570559 rs1350840992	1601	A>S		No	ClinGen TOPMed gnomAD
rs771561972 CA6411424	1602	S>L		No	ClinGen ExAC gnomAD
rs201471909 CA6411422	1604	D>N		No	ClinGen ExAC TOPMed gnomAD
rs201471909 CA6411423	1604	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA232386651 rs376175590	1605	E>K		No	ClinGen ESP
rs201992075 CA383570401	1608	V>L		No	ClinGen ExAC TOPMed gnomAD
rs889175642 CA232386641	1611	P>L		No	ClinGen gnomAD
rs756171975 CA6411418	1611	P>S		No	ClinGen ExAC gnomAD
rs752982860 CA6411417	1612	P>R		No	ClinGen ExAC gnomAD
rs1423169880 CA383570300	1612	P>S		No	ClinGen gnomAD
CA6411416 rs781396205	1614	G>R		No	ClinGen ExAC gnomAD
CA6411413 rs766609805	1615	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1479444482 CA383570244	1616	E>K		No	ClinGen gnomAD
rs1238781984 CA383570216	1617	K>R		No	ClinGen gnomAD
rs756243539 CA6411412	1618	V>A		No	ClinGen ExAC TOPMed gnomAD
CA6411411 rs193226938	1620	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA383570131 rs1260747143	1622	E>A		No	ClinGen gnomAD
rs1592264277 CA383570112	1623	V>G		No	ClinGen Ensembl
CA383570125 rs1230119526	1623	V>M		No	ClinGen TOPMed gnomAD
CA232386633 rs142136215	1624	K>R		No	ClinGen 1000Genomes ESP gnomAD
CA383570082 rs1221930105	1625	E>G		No	ClinGen gnomAD
rs763767059 CA6411410	1625	E>K		No	ClinGen ExAC TOPMed gnomAD
CA383570064 rs1411964736	1626	R>K		No	ClinGen TOPMed
rs1174245842 CA383570057	1626	R>S		No	ClinGen TOPMed
rs775086346 CA383570006	1629	E>D		No	ClinGen ExAC TOPMed
CA6411409 rs760270237	1629	E>K		No	ClinGen ExAC gnomAD
rs1303582400 CA383570007	1629	E>V		No	ClinGen gnomAD
CA232386628 rs927971629	1631	M>I		No	ClinGen TOPMed
CA6411407 rs771783234	1631	M>V		No	ClinGen ExAC TOPMed gnomAD
CA383569980 rs1339610557	1632	E>K		No	ClinGen TOPMed gnomAD
rs774243580 CA6411405 RCV000419572	1634	E>D		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA6411404 rs770611625	1635	P>S		No	ClinGen ExAC gnomAD
rs866968846 CA232386622	1636	K>Q		No	ClinGen Ensembl
rs750234213 CA232385860	1637	G>D		No	ClinGen gnomAD
rs749279386 CA6411403	1637	G>S		No	ClinGen ExAC TOPMed gnomAD
rs747311928 CA6411367	1640	D>A		No	ClinGen ExAC gnomAD
CA6411368 rs768593929	1640	D>N		No	ClinGen ExAC gnomAD
rs758638879 CA6411365	1641	V>A		No	ClinGen ExAC TOPMed gnomAD
CA6411366 rs780147580	1641	V>I		No	ClinGen ExAC TOPMed gnomAD
CA6411364 rs746260563	1645	E>D		No	ClinGen ExAC gnomAD
rs916782498 CA383568264	1645	E>K		No	ClinGen TOPMed
rs916782498 CA232385854	1645	E>Q		No	ClinGen TOPMed
rs1430036042 CA383568246	1646	E>Q		No	ClinGen gnomAD
rs1176209357 CA383568227	1647	K>R		No	ClinGen TOPMed
RCV000949353 CA6411363 VAR_031675 rs35512811	1648	S>L		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1252215917 CA383568179	1651	D>G		No	ClinGen gnomAD
CA6411362 rs757879181	1651	D>N		No	ClinGen ExAC gnomAD
rs757879181 CA383568181	1651	D>Y		No	ClinGen ExAC gnomAD
CA232385849 rs939413746	1653	T>I		No	ClinGen gnomAD
CA383568163 rs754279009	1654	P>A		No	ClinGen ExAC TOPMed gnomAD
CA383568161 rs754279009	1654	P>S		No	ClinGen ExAC TOPMed gnomAD
CA383568146 rs1382913568	1655	I>T		No	ClinGen TOPMed
VAR_031676 rs16932768 CA232385847	1655	I>V		No	ClinGen UniProt TOPMed dbSNP
rs376470845 CA6411360	1656	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs186231319 CA232385843	1658	E>K		No	ClinGen 1000Genomes
rs577673920 CA6411358	1659	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA383568077 rs1207769809	1660	K>E		No	ClinGen gnomAD
rs1057523969 CA16606372 RCV000427736	1660	K>R		No	ClinGen ClinVar Ensembl dbSNP
rs1254420390 CA383567915	1662	E>D		No	ClinGen TOPMed
rs1313730906 CA383567932	1662	E>K		No	ClinGen gnomAD
rs1449749952 CA383567814	1666	E>K		No	ClinGen gnomAD
rs1555162035 CA383567794	1667	E>K		No	ClinGen Ensembl
rs1354897374 CA383567724	1668	E>D		No	ClinGen TOPMed
rs201047688 CA383567752	1668	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6411327 rs201047688	1668	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774714132 CA6411323	1671	E>D		No	ClinGen ExAC gnomAD
CA383567566 rs1384914534	1674	L>F		No	ClinGen gnomAD
rs200783211 CA232385762	1675	Q>R		No	ClinGen Ensembl
CA6411321 rs771213563	1679	T>N		No	ClinGen ExAC gnomAD
CA383567476 rs1592261387	1680	P>T		No	ClinGen Ensembl
rs770231226 CA383567440	1681	K>N		No	ClinGen ExAC TOPMed gnomAD
CA6411319 rs778146868	1681	K>R		No	ClinGen ExAC gnomAD
rs997909423 CA232385761	1682	D>N		No	ClinGen TOPMed
CA6411317 rs748658269	1683	L>P		No	ClinGen ExAC TOPMed gnomAD
CA383567327 rs1210885324	1686	E>D		No	ClinGen TOPMed gnomAD
CA6411315 rs567609607	1692	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1592261340 CA383567180	1692	I>V		No	ClinGen Ensembl
rs778552421 CA6411313	1695	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6411312 rs756887409	1695	R>H		No	ClinGen ExAC TOPMed gnomAD
CA383566880 rs1297741330	1702	D>E		No	ClinGen gnomAD
rs1592261058 CA383566026	1709	H>P		No	ClinGen Ensembl
rs368689531 CA6411294	1709	H>Y		No	ClinGen ESP ExAC
CA383565971 rs1592261051	1712	W>G		No	ClinGen Ensembl
rs1328445791 CA383565901	1714	N>K		No	ClinGen gnomAD
CA383565857 rs1592261040	1716	E>G		No	ClinGen Ensembl
rs1408225667 CA383565843	1717	R>G		No	ClinGen gnomAD
CA383565830 rs1490071463	1717	R>L		No	ClinGen TOPMed gnomAD
CA383565839 rs1408225667	1717	R>W		No	ClinGen gnomAD
CA6411293 rs756900931	1718	A>P		No	ClinGen ExAC gnomAD
CA383565810 rs1365557297	1718	A>V		No	ClinGen TOPMed
rs1406056405 CA383565770	1721	V>A		No	ClinGen TOPMed
rs753507739 CA383565745	1722	T>N		No	ClinGen ExAC gnomAD
rs753507739 CA6411292	1722	T>S		No	ClinGen ExAC gnomAD
rs1012548730 CA232385722	1723	K>R		No	ClinGen Ensembl
rs1305371836 CA383565702	1724	K>T		No	ClinGen TOPMed
CA6411290 rs755937437	1725	T>N		No	ClinGen ExAC TOPMed
rs1184854692 CA383565614	1727	E>*		No	ClinGen gnomAD
CA383565473 rs1483827834	1731	R>Q		No	ClinGen gnomAD
CA6411288 rs767578728	1732	R>W		No	ClinGen ExAC gnomAD
rs1592260974 CA383565410	1734	D>A		No	ClinGen Ensembl
rs766446926 CA6411285	1739	A>G		No	ClinGen ExAC gnomAD
CA383565247 rs1280164330	1739	A>T		No	ClinGen gnomAD
CA383565232 rs766446926	1739	A>V		No	ClinGen ExAC gnomAD
rs773468760 CA6411283	1740	G>S		No	ClinGen ExAC TOPMed gnomAD
CA383565052 rs1450687927	1744	H>R		No	ClinGen TOPMed
rs758499850 CA6411264	1756	P>S		No	ClinGen ExAC gnomAD
CA6411263 rs750402336	1757	R>C		No	ClinGen ExAC TOPMed gnomAD
CA383564829 rs761984548	1757	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6411262 rs761984548	1757	R>L		No	ClinGen ExAC TOPMed gnomAD
CA6411261 rs761984548	1757	R>P		No	ClinGen ExAC TOPMed gnomAD
rs761229855 CA6411258	1761	L>F		No	ClinGen ExAC gnomAD
CA6411257 rs769476360	1762	N>S		No	ClinGen ExAC TOPMed gnomAD
rs772550482 CA6411254	1768	E>D		No	ClinGen ExAC gnomAD
CA6411253 rs377173786	1769	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA6411252 rs747768498	1770	N>K		No	ClinGen ExAC TOPMed gnomAD
CA6411251 rs781178939	1771	R>C		No	ClinGen ExAC gnomAD
CA383564624 rs1357321435	1771	R>H		No	ClinGen gnomAD
rs1173586842 CA383564590	1774	F>S		No	ClinGen gnomAD
rs1361950865 CA383564571	1777	I>L		No	ClinGen gnomAD
rs868070133 CA232385708	1784	R>*		No	ClinGen Ensembl
CA383564477 rs1438981469	1784	R>Q		No	ClinGen gnomAD
rs1285427931 CA383636528	1792	A>S		No	ClinGen gnomAD
rs1480327213 CA383636384	1800	R>C		No	ClinGen gnomAD
rs763955970 CA6411218	1801	R>Q		No	ClinGen ExAC gnomAD
CA383636302 rs1212836850	1804	Y>C		No	ClinGen TOPMed gnomAD
CA6411217 rs764906304	1807	M>T		No	ClinGen ExAC gnomAD
CA383636203 rs1323225696	1808	S>A		No	ClinGen TOPMed
rs761412156 CA6411216	1811	P>A		No	ClinGen ExAC TOPMed gnomAD
CA383636092 rs1221991952	1813	H>N		No	ClinGen TOPMed gnomAD
rs768443881 CA6411214	1814	P>L		No	ClinGen ExAC TOPMed gnomAD
CA6411215 rs776221745	1814	P>S		No	ClinGen ExAC gnomAD
rs1328634134 CA383636056	1815	S>T		No	ClinGen TOPMed
rs760215670 CA6411213	1817	A>V		No	ClinGen ExAC gnomAD
rs771751856 CA6411211	1819	N>D		No	ClinGen ExAC gnomAD
rs1467994359 CA383635959	1820	T>A		No	ClinGen gnomAD
rs1592256810 CA383635954	1820	T>S		No	ClinGen Ensembl
CA383635943 rs1365355127	1821	R>H		No	ClinGen gnomAD
CA383635889 rs1271091451	1824	E>D		No	ClinGen gnomAD
rs770801247 CA6411208	1836	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1453110013 CA383635671	1838	E>D		No	ClinGen TOPMed
rs976112669 CA232434235	1838	E>Q		No	ClinGen TOPMed
CA6411207 rs749395335	1838	E>V		No	ClinGen ExAC gnomAD
rs777793297 CA6411206	1840	M>V		No	ClinGen ExAC TOPMed
CA6411205 rs756396113	1842	G>E		No	ClinGen ExAC gnomAD
CA6411203 rs781660578	1844	K>N		No	ClinGen ExAC gnomAD
CA6411177 rs750954893	1861	L>P		No	ClinGen ExAC gnomAD
rs763763367 CA6411176	1862	S>N		No	ClinGen ExAC gnomAD
rs755584570 CA6411175	1866	A>T		No	ClinGen ExAC gnomAD
rs1289802988 CA383635411	1868	V>A		No	ClinGen TOPMed
rs1224226364 CA383635404	1869	T>I		No	ClinGen gnomAD
rs1224226364 CA383635405	1869	T>S		No	ClinGen gnomAD
rs1046714373 CA232432977	1876	A>T		No	ClinGen TOPMed gnomAD
CA383635358 rs1490981256	1877	R>L		No	ClinGen Ensembl
CA383635360 rs1490981256	1877	R>Q		No	ClinGen Ensembl
rs975819202 CA232432975	1878	I>T		No	ClinGen TOPMed gnomAD
CA6411172 rs759190742	1882	A>S		No	ClinGen ExAC gnomAD
rs1226641208 CA383635275	1890	R>C		No	ClinGen gnomAD
CA383635274 rs201121936	1890	R>H		No	ClinGen 1000Genomes ExAC TOPMed
rs1304779069 CA383635257	1893	L>I		No	ClinGen gnomAD
rs773125129 CA6411168	1895	R>C		No	ClinGen ExAC TOPMed gnomAD
rs769701672 CA383635238	1895	R>H		No	ClinGen ExAC gnomAD
rs769701672 CA6411167	1895	R>L		No	ClinGen ExAC gnomAD
rs768790200 CA6411164	1898	N>S		No	ClinGen ExAC gnomAD
CA6411163 rs747202436	1899	R>W		No	ClinGen ExAC gnomAD
CA6411162 rs780624598	1900	A>T		No	ClinGen ExAC gnomAD
CA6411161 rs143443554	1900	A>V		No	ClinGen ESP ExAC gnomAD
CA6411159 rs779301809	1902	E>D		No	ClinGen ExAC gnomAD
CA383635165 rs1267665030	1902	E>K		No	ClinGen gnomAD
CA6411158 rs546642856	1903	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs546642856 CA6411157	1903	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6411155 rs754677171	1904	T>I		No	ClinGen ExAC gnomAD
CA6411156 rs780725564	1904	T>S		No	ClinGen ExAC
rs1195130913 CA383635091	1907	Q>*		No	ClinGen gnomAD
CA383634935 rs1404333221	1912	Q>E		No	ClinGen TOPMed gnomAD

1 associated diseases with Q14839

[MIM: 617159]: Sifrim-Hitz-Weiss syndrome (SIHIWES)

An autosomal dominant syndrome characterized by intellectual disability, variable congenital defects affecting cardiac, skeletal, and urogenital systems. Short stature, macrocephaly, hearing impairment, and facial dysmorphism are present in some patients. {ECO:0000269|PubMed:27479907, ECO:0000269|PubMed:27616479}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal dominant syndrome characterized by intellectual disability, variable congenital defects affecting cardiac, skeletal, and urogenital systems. Short stature, macrocephaly, hearing impairment, and facial dysmorphism are present in some patients. {ECO:0000269|PubMed:27479907, ECO:0000269|PubMed:27616479}. Note=The disease is caused by variants affecting the gene represented in this entry.

17 regional properties for Q14839

Type	Name	Position	InterPro Accession
domain	SNF2, N-terminal	744 - 1024	IPR000330
domain	Chromo/chromo shadow domain	499 - 586	IPR000953-1
domain	Chromo/chromo shadow domain	620 - 677	IPR000953-2
domain	Helicase, C-terminal	1051 - 1203	IPR001650
domain	Zinc finger, PHD-type	372 - 415	IPR001965-1
domain	Zinc finger, PHD-type	451 - 494	IPR001965-2
conserved_site	DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site	868 - 877	IPR002464
domain	CHD subfamily II, SANT-like domain	1366 - 1523	IPR009462
domain	Domain of unknown function DUF1087	1289 - 1353	IPR009463
domain	CHD, C-terminal 2	1726 - 1871	IPR012957
domain	CHD, N-terminal	164 - 217	IPR012958
domain	Helicase superfamily 1/2, ATP-binding domain	722 - 934	IPR014001
conserved_site	Zinc finger, PHD-type, conserved site	373 - 414	IPR019786-1
conserved_site	Zinc finger, PHD-type, conserved site	452 - 493	IPR019786-2
domain	Zinc finger, PHD-finger	370 - 417	IPR019787-1
domain	Zinc finger, PHD-finger	449 - 496	IPR019787-2
domain	Chromo domain	623 - 673	IPR023780

Functions

		Description
EC Number	3.6.4.12	Acting on ATP; involved in cellular and subcellular movement
Subcellular Localization	Nucleus Cytoplasm, cytoskeleton, microtubule organizing center, centrosome	Associates with centrosomes in interphase (By similarity) Localizes to sites of DNA damage in a manner dependent on ZMYND8 and ZNF687 (PubMed:27732854, PubMed:28977666)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

10 GO annotations of cellular component

Name	Definition
centrosome	A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle.
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
chromosome, telomeric region	The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres).
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.
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.
NuRD complex	An approximately 2 MDa multi-subunit complex that exhibits ATP-dependent chromatin remodeling activity in addition to histone deacetylase (HDAC) activity, and has been shown to establish transcriptional repression of a number of target genes in vertebrates, invertebrates and fungi. Amongst its subunits, the NuRD complex contains histone deacetylases, histone binding proteins and Mi-2-like proteins.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.
RNA polymerase II transcription regulator complex	A transcription factor complex that acts at a regulatory region of a gene transcribed by RNA polymerase II.

11 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity	Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
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.
chromatin binding	Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
DNA helicase activity	Unwinding of a DNA helix, driven by ATP hydrolysis.
histone binding	Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription.
histone deacetylase binding	Binding to histone deacetylase.
RNA polymerase II-specific DNA-binding transcription factor binding	Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription.
transcription coregulator binding	Binding to a transcription coregulator, a protein involved in regulation of transcription via protein-protein interactions with transcription factors and other transcription regulatory proteins. Cofactors do not bind DNA directly, but rather mediate protein-protein interactions between regulatory transcription factors and the basal transcription machinery.
zinc ion binding	Binding to a zinc ion (Zn).

9 GO annotations of biological process

Name	Definition
chromatin remodeling	A dynamic process of chromatin reorganization resulting in changes to chromatin structure. These changes allow DNA metabolic processes such as transcriptional regulation, DNA recombination, DNA repair, and DNA replication.
histone deacetylation	The modification of histones by removal of acetyl groups.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of gene expression	Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
positive regulation of DNA-templated transcription	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
regulation of cell fate specification	Any process that mediates the adoption of a specific fate by a cell.
regulation of stem cell differentiation	Any process that modulates the frequency, rate or extent of stem cell differentiation.
terminal button organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a terminal button. A terminal button is the terminal inflated portion of the axon, containing the specialized apparatus necessary to release neurotransmitters.

8 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O16102	Chd3	Chromodomain-helicase-DNA-binding protein 3	Drosophila melanogaster (Fruit fly)	PR
O14646	CHD1	Chromodomain-helicase-DNA-binding protein 1	Homo sapiens (Human)	PR
Q12873	CHD3	Chromodomain-helicase-DNA-binding protein 3	Homo sapiens (Human)	PR
Q8TDI0	CHD5	Chromodomain-helicase-DNA-binding protein 5	Homo sapiens (Human)	PR
A2A8L1	Chd5	Chromodomain-helicase-DNA-binding protein 5	Mus musculus (Mouse)	PR
Q6PDQ2	Chd4	Chromodomain-helicase-DNA-binding protein 4	Mus musculus (Mouse)	PR
D3ZD32	Chd5	Chromodomain-helicase-DNA-binding protein 5	Rattus norvegicus (Rat)	PR
Q22516	chd-3	Chromodomain-helicase-DNA-binding protein 3 homolog	Caenorhabditis elegans	PR

10	20	30	40	50	60
MASGLGSPSP	CSAGSEEEDM	DALLNNSLPP	PHPENEEDPE	EDLSETETPK	LKKKKKPKKP
70	80	90	100	110	120
RDPKIPKSKR	QKKERMLLCR	QLGDSSGEGP	EFVEEEEEVA	LRSDSEGSDY	TPGKKKKKKL
130	140	150	160	170	180
GPKKEKKSKS	KRKEEEEEED	DDDDSKEPKS	SAQLLEDWGM	EDIDHVFSEE	DYRTLTNYKA
190	200	210	220	230	240
FSQFVRPLIA	AKNPKIAVSK	MMMVLGAKWR	EFSTNNPFKG	SSGASVAAAA	AAAVAVVESM
250	260	270	280	290	300
VTATEVAPPP	PPVEVPIRKA	KTKEGKGPNA	RRKPKGSPRV	PDAKKPKPKK	VAPLKIKLGG
310	320	330	340	350	360
FGSKRKRSSS	EDDDLDVESD	FDDASINSYS	VSDGSTSRSS	RSRKKLRTTK	KKKKGEEEVT
370	380	390	400	410	420
AVDGYETDHQ	DYCEVCQQGG	EIILCDTCPR	AYHMVCLDPD	MEKAPEGKWS	CPHCEKEGIQ
430	440	450	460	470	480
WEAKEDNSEG	EEILEEVGGD	LEEEDDHHME	FCRVCKDGGE	LLCCDTCPSS	YHIHCLNPPL
490	500	510	520	530	540
PEIPNGEWLC	PRCTCPALKG	KVQKILIWKW	GQPPSPTPVP	RPPDADPNTP	SPKPLEGRPE
550	560	570	580	590	600
RQFFVKWQGM	SYWHCSWVSE	LQLELHCQVM	FRNYQRKNDM	DEPPSGDFGG	DEEKSRKRKN
610	620	630	640	650	660
KDPKFAEMEE	RFYRYGIKPE	WMMIHRILNH	SVDKKGHVHY	LIKWRDLPYD	QASWESEDVE
670	680	690	700	710	720
IQDYDLFKQS	YWNHRELMRG	EEGRPGKKLK	KVKLRKLERP	PETPTVDPTV	KYERQPEYLD
730	740	750	760	770	780
ATGGTLHPYQ	MEGLNWLRFS	WAQGTDTILA	DEMGLGKTVQ	TAVFLYSLYK	EGHSKGPFLV
790	800	810	820	830	840
SAPLSTIINW	EREFEMWAPD	MYVVTYVGDK	DSRAIIRENE	FSFEDNAIRG	GKKASRMKKE
850	860	870	880	890	900
ASVKFHVLLT	SYELITIDMA	ILGSIDWACL	IVDEAHRLKN	NQSKFFRVLN	GYSLQHKLLL
910	920	930	940	950	960
TGTPLQNNLE	ELFHLLNFLT	PERFHNLEGF	LEEFADIAKE	DQIKKLHDML	GPHMLRRLKA
970	980	990	1000	1010	1020
DVFKNMPSKT	ELIVRVELSP	MQKKYYKYIL	TRNFEALNAR	GGGNQVSLLN	VVMDLKKCCN
1030	1040	1050	1060	1070	1080
HPYLFPVAAM	EAPKMPNGMY	DGSALIRASG	KLLLLQKMLK	NLKEGGHRVL	IFSQMTKMLD
1090	1100	1110	1120	1130	1140
LLEDFLEHEG	YKYERIDGGI	TGNMRQEAID	RFNAPGAQQF	CFLLSTRAGG	LGINLATADT
1150	1160	1170	1180	1190	1200
VIIYDSDWNP	HNDIQAFSRA	HRIGQNKKVM	IYRFVTRASV	EERITQVAKK	KMMLTHLVVR
1210	1220	1230	1240	1250	1260
PGLGSKTGSM	SKQELDDILK	FGTEELFKDE	ATDGGGDNKE	GEDSSVIHYD	DKAIERLLDR
1270	1280	1290	1300	1310	1320
NQDETEDTEL	QGMNEYLSSF	KVAQYVVREE	EMGEEEEVER	EIIKQEESVD	PDYWEKLLRH
1330	1340	1350	1360	1370	1380
HYEQQQEDLA	RNLGKGKRIR	KQVNYNDGSQ	EDRDWQDDQS	DNQSDYSVAS	EEGDEDFDER
1390	1400	1410	1420	1430	1440
SEAPRRPSRK	GLRNDKDKPL	PPLLARVGGN	IEVLGFNARQ	RKAFLNAIMR	YGMPPQDAFT
1450	1460	1470	1480	1490	1500
TQWLVRDLRG	KSEKEFKAYV	SLFMRHLCEP	GADGAETFAD	GVPREGLSRQ	HVLTRIGVMS
1510	1520	1530	1540	1550	1560
LIRKKVQEFE	HVNGRWSMPE	LAEVEENKKM	SQPGSPSPKT	PTPSTPGDTQ	PNTPAPVPPA
1570	1580	1590	1600	1610	1620
EDGIKIEENS	LKEEESIEGE	KEVKSTAPET	AIECTQAPAP	ASEDEKVVVE	PPEGEEKVEK
1630	1640	1650	1660	1670	1680
AEVKERTEEP	METEPKGAAD	VEKVEEKSAI	DLTPIVVEDK	EEKKEEEEKK	EVMLQNGETP
1690	1700	1710	1720	1730	1740
KDLNDEKQKK	NIKQRFMFNI	ADGGFTELHS	LWQNEERAAT	VTKKTYEIWH	RRHDYWLLAG
1750	1760	1770	1780	1790	1800
IINHGYARWQ	DIQNDPRYAI	LNEPFKGEMN	RGNFLEIKNK	FLARRFKLLE	QALVIEEQLR
1810	1820	1830	1840	1850	1860
RAAYLNMSED	PSHPSMALNT	RFAEVECLAE	SHQHLSKESM	AGNKPANAVL	HKVLKQLEEL
1870	1880	1890	1900	1910
LSDMKADVTR	LPATIARIPP	VAVRLQMSER	NILSRLANRA	PEPTPQQVAQ	QQ