AiPD: Autoinhibited Protein Database

Q12873

Gene name	CHD3
Protein name	Chromodomain-helicase-DNA-binding protein 3
Names	CHD-3, ATP-dependent helicase CHD3, Mi-2 autoantigen 240 kDa protein, Mi2-alpha, Zinc finger helicase, hZFH
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1107
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)

28-147 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

28-147 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

1 structures for Q12873

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q12873-F1	Predicted				AlphaFoldDB

1102 variants for Q12873

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs758150597 CA8362299 RCV001263357	71	R>C	Autism [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs777077851 COSM708770 RCV001252452 CA8362330	95	Y>C	lung Intellectual disability Variant assessed as Somatic; 0.0 impact. [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA397939261 RCV000714483 rs1567844992	457	E>*	Intellectual disability [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_081506	457	E>del	SNIBCPS [UniProt]	Yes	UniProt
rs1970056398 RCV001266549	823	R>W	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV000790867 VAR_081507 CA397940017 RCV001264633 rs1567855081 RCV000714484	886	H>R	Snijders Blok-Campeau syndrome Intellectual disability SNIBCPS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_081508 rs1567855669 RCV000722156 RCV000714485 CA397940231	915	L>F	Snijders Blok-Campeau syndrome Intellectual disability SNIBCPS; increased function in chromatin remodeling [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000714486 VAR_081509 rs1567855704 CA397940268 RCV000790868	921	E>K	Snijders Blok-Campeau syndrome Intellectual disability SNIBCPS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000714487 RCV000790869 rs1567856045 CA397940566 VAR_081510	961	G>E	Snijders Blok-Campeau syndrome Intellectual disability SNIBCPS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000585331 CA397940598 RCV001266354 rs1555611692 RCV001376041	966	R>Q	Snijders Blok-Campeau syndrome Variant assessed as Somatic; impact. Inborn genetic diseases [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
rs1064795892 CA16620643 COSM274532 RCV001265777 RCV001252453 RCV000845094 RCV000484709	966	R>W	CHD3-Related Disorder Snijders Blok-Campeau syndrome large_intestine Variant assessed as Somatic; impact. Inborn genetic diseases [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
CA397940614 rs1555611694 RCV000623838	969	K>E	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000790870 RCV001843537 VAR_081511 CA397940728 RCV000714489 rs1567856331	985	R>Q	Snijders Blok-Campeau syndrome Intellectual disability SNIBCPS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA397940726 RCV000722154 RCV000714488 RCV000622848 VAR_081512 rs1555611722	985	R>W	Snijders Blok-Campeau syndrome Intellectual disability Inborn genetic diseases SNIBCPS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs370985532 RCV001249394	1054	A>T	CHD3-Related Disorder [ClinVar]	Yes	ClinVar dbSNP
RCV000790871 rs1567859975 VAR_081513 RCV000714490	1109	G>missing	Snijders Blok-Campeau syndrome Intellectual disability SNIBCPS; unknown pathological significance [ClinVar, UniProt]	Yes	ClinVar UniProt dbSNP
rs1567859975 VAR_081513	1109	G>del	SNIBCPS; unknown pathological significance [UniProt]	Yes	UniProt dbSNP
CA891843610 RCV000714491 RCV000790872 VAR_081514 rs1567860075	1120	D>H	Snijders Blok-Campeau syndrome Intellectual disability SNIBCPS; the patient also carries a truncating variant in CIC; both variants may contribute to disease phenotype [ClinVar, UniProt]	Yes	ClinGen ClinVar Ensembl dbSNP UniProt
rs1970460175 RCV001254125	1120	D>V	Snijders Blok-Campeau syndrome [ClinVar]	Yes	ClinVar dbSNP
CA397941704 rs1567860112 RCV000714492 RCV002463725 RCV000790874 VAR_081515	1121	R>P	Snijders Blok-Campeau syndrome Global developmental delay Intellectual disability SNIBCPS; decreased function in chromatin remodeling; decreased ATPase activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_081516 RCV000714493 rs1567860640 RCV000790875 CA397941817	1136	T>I	Snijders Blok-Campeau syndrome Intellectual disability SNIBCPS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000623770 CA397941839 rs1555612459	1140	G>D	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1567860891 RCV000722157 CA397941954 RCV000714494 VAR_081517	1158	W>R	Snijders Blok-Campeau syndrome Intellectual disability SNIBCPS; highly decreased function in chromatin remodeling [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000714495 RCV001268208 CA397941968 RCV000790876 VAR_081518 rs754919272 RCV000850454	1159	N>K	Snijders Blok-Campeau syndrome Intellectual disability Marfanoid habitus and intellectual disability SNIBCPS; highly decreased function in chromatin remodeling [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
rs1567860919 RCV000714496 VAR_081519 RCV000790877 CA397941980	1161	H>R	Snijders Blok-Campeau syndrome Intellectual disability SNIBCPS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_081520 RCV001266103 RCV000714497 CA397942050 RCV000722153 rs1567861468 RCV001799697	1169	R>W	Snijders Blok-Campeau syndrome Intellectual disability Inborn genetic diseases SNIBCPS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1567861489 CA397942064 RCV000790878 VAR_081521 RCV000714498	1171	H>R	Snijders Blok-Campeau syndrome Intellectual disability SNIBCPS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001855425 CA397942069 RCV000714499 VAR_081522 RCV000722155 rs1567861501	1172	R>Q	Snijders Blok-Campeau syndrome Intellectual disability SNIBCPS; decreased function in chromatin remodeling; decreased ATPase activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1567861571 CA397942173 RCV000714500 RCV000790879 VAR_081523	1187	R>P	Snijders Blok-Campeau syndrome Intellectual disability SNIBCPS; unknown pathological significance; does not affect function in chromatin remodeling; no effect on ATPase activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_081524 CA397942674 RCV000714501 rs1567861894 RCV000790873	1236	L>P	Snijders Blok-Campeau syndrome Intellectual disability SNIBCPS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000790880 CA397944492 VAR_081525 RCV001266852 rs1567863732 RCV000714502	1342	R>Q	Snijders Blok-Campeau syndrome Intellectual disability Variant assessed as Somatic; impact. Inborn genetic diseases SNIBCPS [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
rs1971039767 RCV001330089	1530	R>T	Snijders Blok-Campeau syndrome [ClinVar]	Yes	ClinVar dbSNP
CA8363490 rs747936150 RCV001266130	1602	P>S	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs944479623 CA287497625 RCV001262606	1635	R>H	Snijders Blok-Campeau syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001330090 RCV002546369 rs200096964 CA8363539	1659	Q>R	Snijders Blok-Campeau syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA287498209 rs369558887 RCV001330091	1693	R>W	Snijders Blok-Campeau syndrome [ClinVar]	Yes	ClinGen ClinVar ESP dbSNP gnomAD
CA8363572 rs61738372 RCV001252451 RCV003166575	1697	R>Q	Intellectual disability Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000790881 rs1567877108 CA397950756 RCV000714504 VAR_081526	1881	R>L	Snijders Blok-Campeau syndrome Intellectual disability SNIBCPS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1567878511 RCV000714505	1935	F>missing	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
rs772172343 CA8362247	2	K>T		No	ClinGen ExAC gnomAD
rs931543 CA8362249	3	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs930797021 CA287551528	3	A>P		No	ClinGen TOPMed
rs930797021 CA397934193	3	A>T		No	ClinGen TOPMed
CA8362248 VAR_048728 rs931543	3	A>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8362250 rs758484620	6	T>A		No	ClinGen ExAC TOPMed gnomAD
rs773279100 CA8362251	7	V>L		No	ClinGen ExAC gnomAD
CA8362252 rs763101770	9	L>Q		No	ClinGen ExAC gnomAD
CA8362254 rs751952458	10	W>R		No	ClinGen ExAC gnomAD
CA397934243 rs1356327852	11	A>V		No	ClinGen TOPMed
rs759864597 CA8362255	12	R>T		No	ClinGen ExAC gnomAD
rs1361771986 CA397934251	13	S>G		No	ClinGen gnomAD
CA8362256 rs768063092	13	S>N		No	ClinGen ExAC gnomAD
TCGA novel	15	N>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8362257 rs753191510	15	N>S		No	ClinGen ExAC gnomAD
CA8362258 rs756575816	16	D>V		No	ClinGen ExAC gnomAD
rs777160422 CA8362260	20	I>T		No	ClinGen ExAC TOPMed gnomAD
CA287551560 rs939714081	20	I>V		No	ClinGen Ensembl
CA397934309 rs1241432342	21	S>F		No	ClinGen gnomAD
CA8362262 rs61740589	23	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745703255 CA8362264	24	P>L		No	ClinGen ExAC gnomAD
rs778672721 CA8362263	24	P>S		No	ClinGen ExAC TOPMed gnomAD
CA624712910 rs1185168169	25	G>*		No	ClinGen gnomAD
rs1300939887 CA397934332	25	G>E		No	ClinGen TOPMed
rs1345087266 CA397934349	28	W>*		No	ClinGen gnomAD
rs780204966 CA8362266	29	G>V		No	ClinGen ExAC gnomAD
rs554141813 CA8362267	30	D>G		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	31	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1014145499 CA287551577	31	R>W		No	ClinGen gnomAD
CA397934377 rs1428817399	32	M>I		No	ClinGen gnomAD
rs773191512 CA8362269	32	M>K		No	ClinGen ExAC gnomAD
CA8362268 rs768583485	32	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1054303002 CA287551839	35	K>E		No	ClinGen Ensembl
rs1597915617 CA397934466	35	K>R		No	ClinGen Ensembl
rs773838784 CA397934470	36	D>N		No	ClinGen gnomAD
CA287551845 rs773838784	36	D>Y		No	ClinGen gnomAD
rs1208427243 CA397934483	37	D>E		No	ClinGen TOPMed gnomAD
rs774624950 CA8362289	37	D>N		No	ClinGen ExAC gnomAD
rs759766418 CA8362290	38	I>F		No	ClinGen ExAC gnomAD
rs1442594390 CA397934487	38	I>T		No	ClinGen gnomAD
CA397934492 rs1230604252	39	R>Q		No	ClinGen TOPMed gnomAD
rs1481323439 CA397934496	40	L>V		No	ClinGen gnomAD
CA397934521 rs1381446423	42	P>L		No	ClinGen TOPMed gnomAD
rs1181115184 CA397934518	42	P>S		No	ClinGen TOPMed gnomAD
rs1489784633 CA397934542	44	A>T		No	ClinGen TOPMed
rs1597915858 CA397934586	47	V>G		No	ClinGen Ensembl
CA8362293 rs761069303	50	R>K		No	ClinGen ExAC gnomAD
CA397934644 rs1352897171	52	R>Q		No	ClinGen TOPMed gnomAD
CA397934656 rs1283091162	53	G>A		No	ClinGen TOPMed gnomAD
rs764553761 CA8362294	56	K>R		No	ClinGen ExAC gnomAD
CA8362295 rs777179750	57	Q>L		No	ClinGen ExAC gnomAD
CA287551866 CA287551869 rs977948154	58	K>N		No	ClinGen TOPMed gnomAD
CA397934719 rs1404607058	59	E>A		No	ClinGen TOPMed
CA397934806 rs764841082	66	R>L		No	ClinGen ExAC gnomAD
CA8362297 COSM1387346 rs764841082	66	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA8362298 rs550038952	68	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397934836 rs1308796275	68	R>L		No	ClinGen TOPMed gnomAD
CA397934856 rs1567833092	70	K>T		No	ClinGen Ensembl
CA8362300 rs766019097	71	R>H		No	ClinGen ExAC TOPMed gnomAD
rs999597296 CA287552197	73	S>G		No	ClinGen TOPMed gnomAD
rs767350598 CA8362321	73	S>N		No	ClinGen ExAC gnomAD
CA397934990 rs1353073018	76	E>K		No	ClinGen gnomAD
CA8362323 rs756074044	78	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1011702964 CA287552200	80	E>Q		No	ClinGen TOPMed gnomAD
CA397935043 rs1357608946	81	R>G		No	ClinGen TOPMed gnomAD
CA287552205 rs1023066121	81	R>L		No	ClinGen TOPMed gnomAD
CA287552201 rs1023066121	81	R>P		No	ClinGen TOPMed gnomAD
rs1023066121 CA397935045	81	R>Q		No	ClinGen TOPMed gnomAD
rs1489471187 CA397935059	83	E>K		No	ClinGen gnomAD
rs745992945 CA397935090	85	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8362326 COSM3691902 rs758459375	85	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs745992945 CA8362325	85	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	88	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397935155 rs1597920193	90	S>R		No	ClinGen Ensembl
CA397935157 CA8362327 rs780206250	91	G>R		No	ClinGen ExAC TOPMed gnomAD
rs569669003 CA397935171	92	G>A		No	ClinGen 1000Genomes ExAC gnomAD
rs569669003 CA8362329	92	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA8362328 rs747258702	92	G>S		No	ClinGen ExAC gnomAD
rs1400757120 CA397935207	95	Y>H		No	ClinGen TOPMed
CA397935226 rs1397290052	96	G>A		No	ClinGen TOPMed gnomAD
rs1397290052 CA397935225	96	G>V		No	ClinGen TOPMed gnomAD
CA397935246 rs1487395776	98	G>E		No	ClinGen TOPMed
rs138306277 COSM1200965 CA8362333	98	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA8362334 rs765578621	99	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8362335 rs765578621	99	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA8362336 rs765578621	99	P>R		No	ClinGen ExAC TOPMed gnomAD
rs767034177 CA8362338	100	G>A		No	ClinGen ExAC gnomAD
CA397935265 rs767034177	100	G>D		No	ClinGen ExAC gnomAD
rs752525306 CA8362340	101	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs760436956 CA8362342	103	R>Q		No	ClinGen ExAC gnomAD
CA397935305 rs1256873985	104	R>K		No	ClinGen gnomAD
CA287552231 rs1047123204	105	R>G		No	ClinGen TOPMed gnomAD
CA397935352 rs1567835261	108	R>G		No	ClinGen Ensembl
rs143327592 CA8362343	108	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA397935374 rs1440112010	110	K>E		No	ClinGen gnomAD
rs1244841378 CA397935391	111	K>M		No	ClinGen gnomAD
CA397935386 rs1172729112	111	K>Q		No	ClinGen gnomAD
rs1382061552	111	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1467199008 CA397935402	112	E>G		No	ClinGen gnomAD
CA8362345 rs753770040	114	K>E		No	ClinGen ExAC gnomAD
rs376670741 CA8362346	114	K>M		No	ClinGen ESP ExAC TOPMed gnomAD
RCV001280730 rs376670741 CA397935428	114	K>T		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA287552249 rs938168299	115	T>I		No	ClinGen TOPMed gnomAD
CA397935462 rs1597920787	117	R>Q		No	ClinGen Ensembl
rs1053918168 CA287552262	118	R>Q		No	ClinGen TOPMed gnomAD
CA8362349 rs755261950	118	R>W		No	ClinGen ExAC TOPMed gnomAD
rs781534324 CA397935473	119	K>E		No	ClinGen ExAC gnomAD
CA8362350 rs781534324	119	K>Q		No	ClinGen ExAC gnomAD
rs748572297 CA8362351	120	K>N		No	ClinGen ExAC gnomAD
rs1338869203 CA397935493 COSM985425	120	K>R	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1239962375 CA397935500	121	G>R		No	ClinGen TOPMed gnomAD
rs1239962375 CA397935498	121	G>W		No	ClinGen TOPMed gnomAD
CA8362352 rs770273476	122	E>Q		No	ClinGen ExAC gnomAD
TCGA novel	122	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1192775971 CA397935543	124	D>E		No	ClinGen TOPMed gnomAD
CA397935556 rs1250977332 CA397935553	126	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
TCGA novel	127	Q>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	127	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8362373 rs779262703	130	V>M		No	ClinGen ExAC gnomAD
rs1384530957 CA397935626	131	E>D		No	ClinGen gnomAD
CA287552347 rs534825914	135	S>L		No	ClinGen Ensembl
CA8362375 rs771565667	135	S>T		No	ClinGen ExAC gnomAD
rs774913196 CA8362376	137	T>A		No	ClinGen ExAC gnomAD
rs138878893 CA8362377	141	T>A		No	ClinGen ExAC gnomAD
CA287552354 rs59664969	141	T>I		No	ClinGen Ensembl
rs1597922143 CA397935724	147	V>A		No	ClinGen Ensembl
rs1323386037 CA397935734	149	H>Y		No	ClinGen gnomAD
rs1487184225 CA397935773	154	E>A		No	ClinGen gnomAD
CA287552370 rs1016023880	157	H>Y		No	ClinGen gnomAD
rs773009765 CA8362382	158	T>M		No	ClinGen ExAC TOPMed gnomAD
CA8362383 rs759732280	169	M>I		No	ClinGen ExAC gnomAD
CA397935882 rs1426004764	169	M>L		No	ClinGen gnomAD
CA397935983 rs1309629017	182	M>V		No	ClinGen TOPMed gnomAD
rs959617972 CA287553337	184	K>E		No	ClinGen TOPMed
rs1597932891 CA397936011	185	M>K		No	ClinGen Ensembl
CA397936039 rs1346875076	187	T>A		No	ClinGen TOPMed gnomAD
TCGA novel	191	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	193	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1597933029 CA397936948	200	N>T		No	ClinGen Ensembl
CA8362404 rs764466556	205	S>A		No	ClinGen ExAC gnomAD
rs1239243780 CA397937027	206	A>V		No	ClinGen gnomAD
rs757433731 CA8362407	210	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs765531902 CA397937088	211	A>G		No	ClinGen ExAC TOPMed gnomAD
COSM437712 CA8362409 rs765531902	211	A>V	Variant assessed as Somatic; 4.736e-05 impact. endometrium breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA397937107 rs1369872273	213	A>V		No	ClinGen TOPMed
rs758932765 CA8362415	215	A>V		No	ClinGen ExAC gnomAD
rs780509597 CA8362416	216	A>P		No	ClinGen ExAC gnomAD
rs780509597 CA397937133	216	A>T		No	ClinGen ExAC gnomAD
rs754472134 CA8362418	218	A>V		No	ClinGen ExAC gnomAD
TCGA novel	219	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1433987082 CA397937196	222	E>K		No	ClinGen gnomAD
CA397937237 rs1195329131	225	S>L		No	ClinGen TOPMed
rs1276275805 CA397937252	227	A>T		No	ClinGen gnomAD
rs780964961 CA8362419	229	S>L		No	ClinGen ExAC TOPMed gnomAD
rs983245798 CA287553441	229	S>P		No	ClinGen TOPMed
CA8362422 rs551660142	230	S>L		No	ClinGen 1000Genomes ExAC gnomAD
CA287553453 rs941786534	231	A>T		No	ClinGen TOPMed gnomAD
rs771037852 CA8362425	232	T>A		No	ClinGen ExAC gnomAD
CA397937312 rs760900083	232	T>I		No	ClinGen ExAC TOPMed gnomAD
CA8362426 rs760900083	232	T>N		No	ClinGen ExAC TOPMed gnomAD
rs771037852 CA8362424	232	T>P		No	ClinGen ExAC gnomAD
CA287553460 rs1039173110	233	P>A		No	ClinGen TOPMed
rs1478440275 CA397937322	233	P>H		No	ClinGen gnomAD
rs1039173110 CA397937317	233	P>S		No	ClinGen TOPMed
CA8362429 rs768618853	234	I>L		No	ClinGen ExAC TOPMed gnomAD
CA397937326 rs768618853	234	I>V		No	ClinGen ExAC TOPMed gnomAD
CA397937335 rs1421646802	235	A>T		No	ClinGen gnomAD
rs761963029 CA8362433	237	S>P		No	ClinGen ExAC TOPMed gnomAD
rs763283640 CA8362436 CA397937352	238	G>R		No	ClinGen ExAC gnomAD
rs766932108 CA8362439	239	P>H		No	ClinGen ExAC TOPMed gnomAD
rs766932108 CA8362438	239	P>L		No	ClinGen ExAC TOPMed gnomAD
CA397937359 rs1325218074	239	P>S		No	ClinGen TOPMed gnomAD
CA397937361 rs138264899	240	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs138264899 CA8362440	240	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs150799852 CA8362442	241	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745968236	241	A>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs150799852 CA8362443	241	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749149678 CA8362445	242	L>P		No	ClinGen ExAC gnomAD
CA8362444 rs777453055	242	L>V		No	ClinGen ExAC gnomAD
rs1208434202 CA397937396	243	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8362447 rs778779035	243	P>S		No	ClinGen ExAC
rs776603926 CA397937411	245	P>A		No	ClinGen ExAC TOPMed gnomAD
CA8362450 rs776603926	245	P>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	246	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1194412020 CA397937442	247	A>D		No	ClinGen gnomAD
rs1489328006 CA397937437	247	A>P		No	ClinGen gnomAD
rs904018481 CA287553543	250	I>T		No	ClinGen TOPMed gnomAD
rs769960925 CA8362452	251	Q>H		No	ClinGen ExAC gnomAD
CA8362451 rs761921252	251	Q>R		No	ClinGen ExAC gnomAD
rs1201314910 CA397937497	252	P>S		No	ClinGen TOPMed gnomAD
rs773411857 CA8362453	253	P>L		No	ClinGen ExAC TOPMed gnomAD
rs773411857 CA397937514	253	P>R		No	ClinGen ExAC TOPMed gnomAD
CA8362454 rs763375312	254	P>S		No	ClinGen ExAC gnomAD
CA397937569 rs1332868250	258	A>V		No	ClinGen gnomAD
rs1197772018 CA397937709	266	P>L		No	ClinGen gnomAD
CA8362480 rs757000641	268	H>N		No	ClinGen ExAC gnomAD
rs369205747 CA8362481	268	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs746970749 CA8362485	271	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1640881 rs372716915 CA8362484	271	R>W	stomach [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs754814641 CA8362486	274	S>N		No	ClinGen ExAC TOPMed gnomAD
CA8362487 rs777856475	275	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	275	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8362488 rs749330456	276	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA397937837 rs1196723619	277	V>A		No	ClinGen TOPMed gnomAD
CA397937839 rs1196723619	277	V>G		No	ClinGen TOPMed gnomAD
CA8362489 rs771185332	277	V>M		No	ClinGen ExAC gnomAD
rs201932618 CA8362491 COSM239307	281	R>C	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs139173826 CA8362492	281	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs139173826 CA397937884	281	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8362493 rs775654737	282	K>E		No	ClinGen ExAC gnomAD
CA8362494 rs761263308	282	K>R		No	ClinGen ExAC
rs149936335 CA8362495	285	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs1258858288 CA397937926	285	R>W		No	ClinGen gnomAD
CA8362496 COSM1580705 rs201048464	287	K>N	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs761382967 CA8362497	289	M>I		No	ClinGen ExAC gnomAD
CA8362498 rs765039093	290	A>S		No	ClinGen ExAC gnomAD
CA397938046 rs1252486484	295	K>N		No	ClinGen TOPMed
RCV000678295 rs1567841825 CA397938050	296	L>P		No	ClinGen ClinVar Ensembl dbSNP
CA397938055 rs1204648581	297	G>E		No	ClinGen TOPMed
rs750087267 CA8362499	298	L>F		No	ClinGen ExAC gnomAD
rs1388857040 CA397938074	301	G>C		No	ClinGen gnomAD
TCGA novel	303	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8362501 rs766209905	305	K>R		No	ClinGen ExAC TOPMed gnomAD
rs963882405 CA287553852	307	G>R		No	ClinGen Ensembl
CA8362502 rs751264217	308	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA287553856 rs996661018	308	S>P		No	ClinGen gnomAD
CA8362544 rs770377555	310	V>I		No	ClinGen ExAC TOPMed gnomAD
CA397938162 rs1196375257	312	Q>R		No	ClinGen TOPMed
rs762341187 CA8362546	313	S>N		No	ClinGen ExAC gnomAD
rs368622201 CA397938171	313	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA287554111 rs1042654149	314	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8362549 rs759396604	315	E>K		No	ClinGen ExAC gnomAD
rs767308697 CA8362550	316	G>V		No	ClinGen ExAC gnomAD
rs1204367567 CA397938197	317	P>L		No	ClinGen TOPMed
CA287554127 rs143999586	322	E>D		No	ClinGen ESP
CA397938233 rs1278846431	323	E>K		No	ClinGen TOPMed gnomAD
CA8362551 rs372355101	326	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA397938258 rs372355101	326	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8362552 rs760635105	328	S>T		No	ClinGen ExAC gnomAD
CA397938276 rs1408940606	329	G>C		No	ClinGen gnomAD
CA397938280 rs1213075584	330	S>R		No	ClinGen TOPMed
rs1414003058 CA397938286	330	S>R		No	ClinGen gnomAD
CA397938303 rs1251276602	333	S>G		No	ClinGen TOPMed gnomAD
CA8362554 rs750564352	334	A>P		No	ClinGen ExAC gnomAD
TCGA novel	335	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397938316 rs1597939455	335	S>P		No	ClinGen Ensembl
CA8362557 rs199898991	337	R>Q		No	ClinGen ExAC gnomAD
CA8362556 rs766690054	337	R>W		No	ClinGen ExAC gnomAD
rs755194124 CA8362558	338	P>L		No	ClinGen ExAC gnomAD
CA8362559 rs781708538	340	G>D		No	ClinGen ExAC
rs756687052 CA8362561	342	V>F		No	ClinGen ExAC gnomAD
rs778123554 COSM985432 CA8362562	343	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs138539483 CA8362564	343	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778123554 CA8362563	343	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1359151133 CA397938364	344	T>A		No	ClinGen TOPMed
CA397938404 rs1567843229	350	G>S		No	ClinGen Ensembl
rs1425079381 CA397938409	350	G>V		No	ClinGen TOPMed gnomAD
CA397938411 rs775301861	351	R>P		No	ClinGen ExAC TOPMed gnomAD
CA8362568 rs775301861	351	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs771669987 CA8362567	351	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs776428725 CA8362572	355	K>N		No	ClinGen ExAC gnomAD
CA8362570 rs760439208	355	K>R		No	ClinGen ExAC gnomAD
CA8362571 rs760439208	355	K>T		No	ClinGen ExAC gnomAD
TCGA novel	358	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751641156 CA8362575	359	V>I		No	ClinGen ExAC gnomAD
CA397938482 rs1360350671	361	G>S		No	ClinGen gnomAD
rs987887004 CA287554456	364	A>T		No	ClinGen gnomAD
CA397938516 rs1448788030	366	A>V		No	ClinGen TOPMed gnomAD
CA8362605 COSM473486 rs768307299	367	G>R	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8362607 rs747946918	368	E>K		No	ClinGen ExAC TOPMed gnomAD
CA397938532 rs1396246025	369	E>Q		No	ClinGen TOPMed
rs1597941375 CA397938552	371	V>G		No	ClinGen Ensembl
rs1156449264 CA397938588	376	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1411525253 CA397938611	379	Q>H		No	ClinGen TOPMed
rs1040667263 CA287554515	379	Q>R		No	ClinGen Ensembl
TCGA novel	385	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1216826638 CA397938674	388	G>S		No	ClinGen gnomAD
TCGA novel	391	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1264840360 CA397938695	391	I>V		No	ClinGen gnomAD
rs1178138055 CA397938751	399	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8362613 rs144356754	399	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA397938782 rs1383965928	404	V>I		No	ClinGen gnomAD
COSM1480129 CA8362616 rs551155540	407	D>H	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs765798605 CA8362617	411	D>H		No	ClinGen ExAC TOPMed gnomAD
rs765798605 CA397938829	411	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8362618 rs147796138	412	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1277849281 CA397938837	412	R>W		No	ClinGen gnomAD
CA397938841 rs1597941875	413	A>P		No	ClinGen Ensembl
rs1352044364 CA397938845	413	A>V		No	ClinGen TOPMed
CA397938866 rs1307830387	417	K>Q		No	ClinGen TOPMed
CA8362619 rs758844821	417	K>T		No	ClinGen ExAC gnomAD
CA397938883 rs1243593596	419	S>G		No	ClinGen gnomAD
CA397938902 rs1425412250	421	P>L		No	ClinGen TOPMed gnomAD
CA397938901 rs1425412250	421	P>R		No	ClinGen TOPMed gnomAD
rs779562081 CA8362620	421	P>S		No	ClinGen ExAC gnomAD
CA8362640 rs751080294	426	E>K		No	ClinGen ExAC gnomAD
rs141138068 CA287554930	428	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
RCV001255015 CA8362641 rs141138068	428	V>I		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs141138068 CA397938960	428	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8362642 rs767144411	432	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1198807479 CA397938999	433	K>R		No	ClinGen TOPMed
rs1208911597 CA397939003	434	E>K		No	ClinGen gnomAD
rs752402023 CA8362645	436	E>K		No	ClinGen ExAC gnomAD
CA8362648 rs777737440	439	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs958394916 CA287554946	439	Y>N		No	ClinGen TOPMed
TCGA novel	440	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370479830 CA287554964	440	E>K		No	ClinGen ESP TOPMed gnomAD
rs1311997751 CA397939051	440	E>V		No	ClinGen TOPMed
rs1376985813 CA397939067	441	E>D		No	ClinGen TOPMed
rs1462791209 CA397939063	441	E>G		No	ClinGen gnomAD
CA397939086 rs1288362875	443	G>R		No	ClinGen TOPMed gnomAD
CA8362650 rs757304805	447	G>A		No	ClinGen ExAC gnomAD
CA8362649 rs757304805	447	G>E		No	ClinGen ExAC gnomAD
rs375906970 CA8362651	449	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA397939206 rs1597944667 COSM1200968	452	E>D	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
CA397939197 rs1243731827	452	E>Q		No	ClinGen gnomAD
rs201016344 CA287555040	453	D>E		No	ClinGen Ensembl
TCGA novel	457	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1361068675 CA397939275	458	Y>H		No	ClinGen gnomAD
CA8362655 rs748391145	460	R>C		No	ClinGen ExAC gnomAD
TCGA novel	460	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769962813 CA8362656	461	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs769962813 COSM1324722 CA8362657	461	V>L	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA397939360 rs763283692	463	K>N		No	ClinGen ExAC TOPMed gnomAD
rs774919960 CA8362660	465	G>S		No	ClinGen ExAC TOPMed gnomAD
CA397939416 rs1178736550	470	C>G		No	ClinGen TOPMed
CA397939451 rs1164423485	473	A>T		No	ClinGen gnomAD
CA8362664 rs755867128	473	A>V		No	ClinGen ExAC gnomAD
CA397939543 rs1362499401	481	H>Y		No	ClinGen gnomAD
rs1597945104 CA397939579	484	N>T		No	ClinGen Ensembl
CA397939591 rs1215323034	485	P>S		No	ClinGen TOPMed
CA397939628 rs1242448613	489	D>H		No	ClinGen TOPMed
rs1246321241 CA397939668	492	N>S		No	ClinGen gnomAD
CA397939682 rs1318683309	493	G>A		No	ClinGen TOPMed
rs1284829346 CA397939679	493	G>S		No	ClinGen gnomAD
CA397939691 rs1314652089	494	E>G		No	ClinGen gnomAD
CA397939729 rs1263032491	497	C>Y		No	ClinGen gnomAD
TCGA novel	500	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	501	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8362693 rs752833740	504	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	506	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397939892 rs1330352516	508	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1330352516 CA397939891	508	R>G		No	ClinGen TOPMed gnomAD
TCGA novel	508	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1352542884 CA397939952	513	L>Q		No	ClinGen gnomAD
CA397939957 rs1597946261	514	H>Y		No	ClinGen Ensembl
CA8362695 rs777766454	517	W>G		No	ClinGen ExAC gnomAD
CA287491519 rs199833542	519	E>G		No	ClinGen gnomAD
rs1024324765 CA287491516	519	E>K		No	ClinGen TOPMed gnomAD
rs1024324765 CA397933730	519	E>Q		No	ClinGen TOPMed gnomAD
CA397933763 rs1306106132	521	P>R		No	ClinGen gnomAD
CA8362697 rs771014049	521	P>S		No	ClinGen ExAC TOPMed gnomAD
rs779370186 CA8362698	522	V>I		No	ClinGen ExAC gnomAD
CA8362700 rs772690169	525	P>S		No	ClinGen ExAC gnomAD
rs776133427 CA8362701	527	P>A		No	ClinGen ExAC TOPMed gnomAD
CA397933852 rs1036932687	527	P>L		No	ClinGen TOPMed
CA287491531 rs1036932687	527	P>R		No	ClinGen TOPMed
CA397933860 rs1480763016	528	Q>P		No	ClinGen gnomAD
TCGA novel	531	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	532	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761557613 CA287491541	538	P>A		No	ClinGen ExAC TOPMed gnomAD
CA397934016 rs200461939	538	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8362708 rs200461939	538	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs200461939 CA8362707	538	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs761557613 CA8362706	538	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8362710 rs201739166	539	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201739166 CA397934020	539	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201739166 CA8362709	539	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397934019 rs1401035171	539	P>S		No	ClinGen TOPMed
rs1476775959 CA397934023	540	R>C		No	ClinGen TOPMed
rs754854794 CA8362712	540	R>H		No	ClinGen ExAC TOPMed gnomAD
rs754854794 CA287491558	540	R>P		No	ClinGen ExAC TOPMed gnomAD
rs747299117	540	R>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	540	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777856397 CA8362713	541	P>H		No	ClinGen ExAC gnomAD
rs777856397 CA397934029	541	P>L		No	ClinGen ExAC gnomAD
CA397934057 rs1443131947	546	S>T		No	ClinGen TOPMed
CA8362715 rs757544586	548	R>*		No	ClinGen ExAC gnomAD
rs1294122439 CA397934166	561	H>R		No	ClinGen gnomAD
CA397934173 rs1490524250	562	C>Y		No	ClinGen gnomAD
CA397934420 rs1201209790	566	K>R		No	ClinGen TOPMed gnomAD
CA397934535 rs1385420740	572	I>V		No	ClinGen gnomAD
rs866315965 CA287492043	576	V>A		No	ClinGen Ensembl
rs1426104891 CA397934650	579	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA397934653 rs1156237135	579	R>Q		No	ClinGen gnomAD
CA287492049 rs866734769	583	R>Q		No	ClinGen Ensembl
rs1321788106 CA397934807	588	D>N		No	ClinGen gnomAD
CA287492054 rs61745102	589	E>D		No	ClinGen Ensembl
CA287492057 rs879061800	590	P>R		No	ClinGen Ensembl
rs1405845352 CA397934875	592	P>S		No	ClinGen gnomAD
rs1405845352 CA397934861	592	P>T		No	ClinGen gnomAD
rs1295713625 CA397934879	593	L>M		No	ClinGen TOPMed
rs1338957986 CA397934882	593	L>P		No	ClinGen TOPMed gnomAD
rs1382390818 CA397934888	594	D>G		No	ClinGen TOPMed
CA8362740 rs755345554	595	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA8362739 rs747550371	595	Y>D		No	ClinGen ExAC gnomAD
CA397934894 rs755345554	595	Y>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	596	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1224309188 CA397934908	597	S>F		No	ClinGen TOPMed gnomAD
rs747768901 CA8362742	598	G>S		No	ClinGen ExAC TOPMed gnomAD
CA8362744 rs138976937	599	E>K		No	ClinGen ESP ExAC gnomAD
rs577325529 CA8362746	601	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA8362747 rs774228810	604	S>N		No	ClinGen ExAC TOPMed gnomAD
CA8362748 rs368773406	604	S>R		No	ClinGen ESP ExAC gnomAD
rs767237031 CA8362749	605	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1567849628 CA397935005	605	D>N		No	ClinGen Ensembl
rs759303159 CA8362752	607	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8362753 rs750700699	607	R>H		No	ClinGen ExAC TOPMed gnomAD
CA397935081 rs1327063144	609	V>G		No	ClinGen TOPMed gnomAD
rs368719593 CA8362755	611	D>E		No	ClinGen ESP ExAC gnomAD
CA8362754 rs376843101	611	D>Y		No	ClinGen ESP ExAC
COSM985440 rs767239315 CA287492103	612	P>L	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA287492108 rs1055934095	613	H>R		No	ClinGen TOPMed gnomAD
rs1597955789 CA397935216	618	E>K		No	ClinGen Ensembl
rs1321253482 CA397935234	619	E>K		No	ClinGen gnomAD
rs1225269331 CA397935290	622	Y>C		No	ClinGen TOPMed gnomAD
CA397935288 rs1225269331	622	Y>F		No	ClinGen TOPMed gnomAD
TCGA novel	623	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA287492113 rs923486409	623	R>G		No	ClinGen TOPMed
CA397935399 rs1224507155	629	E>Q		No	ClinGen Ensembl
CA287492121 rs1023623889	630	W>*		No	ClinGen Ensembl
CA8362758 rs781755922	632	T>S		No	ClinGen ExAC TOPMed gnomAD
rs377213049 CA8362761	633	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8362762 rs748967512	634	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA8362763 rs770374165	635	R>H		No	ClinGen ExAC TOPMed gnomAD
rs778403329 CA8362764	638	N>S		No	ClinGen ExAC TOPMed gnomAD
CA397936018 rs1363838053	640	S>R		No	ClinGen gnomAD
CA397936069 rs1426588278	644	K>R		No	ClinGen gnomAD
TCGA novel	647	Y>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	650	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8362780 rs753427196	655	D>Y		No	ClinGen ExAC gnomAD
rs756903420 CA8362781	657	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	666	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397936237 rs1244840147	667	E>G		No	ClinGen gnomAD
CA397936299 rs1221586517	675	E>G		No	ClinGen gnomAD
rs766746684 CA287492467	676	H>Q		No	ClinGen Ensembl
TCGA novel	678	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397936324 rs1485866049	678	Q>H		No	ClinGen gnomAD
rs1203886087	683	H>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	684	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1417355246 CA397936382	685	E>K		No	ClinGen TOPMed gnomAD
rs746854762 CA8362803	686	L>V		No	ClinGen ExAC gnomAD
rs1412548344 CA397936395	687	I>V		No	ClinGen gnomAD
TCGA novel	688	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA287492688 rs997933244	689	G>R		No	ClinGen TOPMed
CA397936426 rs1597961094	691	D>A		No	ClinGen Ensembl
CA8362804 rs754939048	692	P>A		No	ClinGen ExAC TOPMed gnomAD
rs569535363 CA8362805	692	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8362806 rs747932461	694	Q>K		No	ClinGen ExAC gnomAD
rs1448366643 CA397936450	695	P>S		No	ClinGen gnomAD
CA8362808 rs368101383	696	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1392580196 CA397936456	696	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1392580196 CA397936457	696	R>L		No	ClinGen TOPMed gnomAD
rs1330504097 CA397936460	697	K>E		No	ClinGen gnomAD
CA287492706 rs999606834	697	K>N		No	ClinGen Ensembl
CA397936459 rs1330504097	697	K>Q		No	ClinGen gnomAD
CA287492703 rs368914388	697	K>R		No	ClinGen Ensembl
CA8362809 rs376699870	698	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA287492737 rs867127032	700	K>E		No	ClinGen Ensembl
rs1261711985 CA397936485	700	K>N		No	ClinGen gnomAD
CA397936504 rs1314275629	703	K>E		No	ClinGen gnomAD
rs1011056372 CA287492740	703	K>R		No	ClinGen TOPMed
CA397936510 rs1402655987 COSM179911	704	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1211123180 CA397936533	707	G>S		No	ClinGen gnomAD
CA397936542 rs1250591178	708	D>G		No	ClinGen TOPMed
rs1481868087 CA397936555	710	P>L		No	ClinGen TOPMed
rs1232466883 CA397936559	711	P>A		No	ClinGen gnomAD
rs771984924 CA8362812	712	S>I		No	ClinGen ExAC TOPMed gnomAD
rs1479706091 CA397936563	712	S>R		No	ClinGen gnomAD
rs771984924 CA8362813	712	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1222792583 CA397936586	715	T>I		No	ClinGen TOPMed
CA8362814 rs760728006	716	N>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	717	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1248341053 CA397936624	719	T>I		No	ClinGen gnomAD
CA8362834 rs768758499	720	V>M		No	ClinGen ExAC TOPMed gnomAD
rs762324024 CA8362836	724	T>S		No	ClinGen ExAC gnomAD
CA397936678 rs1276632879	727	R>L		No	ClinGen TOPMed
CA397936676 rs1276632879	727	R>Q		No	ClinGen TOPMed
CA397936675 rs1597963273	727	R>W		No	ClinGen Ensembl
rs79977412 CA8362838	729	I>T		No	ClinGen ExAC gnomAD
CA287492975 rs373796359	729	I>V		No	ClinGen ESP
CA397936694 rs1352057621	730	T>I		No	ClinGen gnomAD
CA8362839 rs199851449	730	T>P		No	ClinGen 1000Genomes ExAC gnomAD
CA8362841 rs149562838	733	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397936734 rs1597963475	737	H>P		No	ClinGen Ensembl
rs942700349 CA287493013	738	M>I		No	ClinGen TOPMed
rs1298543382 CA397936742	738	M>T		No	ClinGen gnomAD
rs759045536 CA8362842	738	M>V		No	ClinGen ExAC TOPMed gnomAD
CA397937144 rs1384150975	769	I>M		No	ClinGen gnomAD
CA397937163 rs1597963721	771	T>P		No	ClinGen Ensembl
rs780284516 CA8362849	773	V>A		No	ClinGen ExAC
rs375871584 CA8362848	773	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8362851 rs369686403	776	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1244942176 CA397937436	786	G>V		No	ClinGen TOPMed gnomAD
rs771832962 CA8362879	792	A>V		No	ClinGen ExAC gnomAD
CA8362883 rs776577787	806	M>I		No	ClinGen ExAC gnomAD
rs1266388813 CA397937737	808	A>T		No	ClinGen TOPMed
CA8362886 rs750206690	814	V>M		No	ClinGen ExAC gnomAD
rs1409595554 CA397937874	817	T>M		No	ClinGen gnomAD
CA287493201 rs781033971	820	K>*		No	ClinGen Ensembl
rs752948131 CA8362889	824	A>G		No	ClinGen ExAC gnomAD
rs756135669 CA8362890	825	I>V		No	ClinGen ExAC gnomAD
CA8362891 rs576579516	827	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1207127823 CA397939109	832	S>T		No	ClinGen gnomAD
rs749734103 CA8362892	836	N>S		No	ClinGen ExAC gnomAD
CA397939265 rs1282175776	840	G>A		No	ClinGen TOPMed gnomAD
CA8362893 rs757697737	846	K>R		No	ClinGen ExAC gnomAD
CA397939361 rs1275083291	847	M>I		No	ClinGen gnomAD
CA397939447 rs1487831203	849	R>K		No	ClinGen gnomAD
rs1567854848 CA397939500	852	Q>E		No	ClinGen Ensembl
rs753844697 CA8362910	855	F>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	856	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1254844078 CA397939741	866	T>I		No	ClinGen TOPMed
CA397939795 rs1338188591	870	A>S		No	ClinGen gnomAD
rs1597966679 CA397939802	871	A>V		No	ClinGen Ensembl
rs780573521 CA8362915	876	R>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	877	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1274841350 CA397939893	878	A>V		No	ClinGen TOPMed
CA397940056 rs1384018272	891	N>K		No	ClinGen TOPMed gnomAD
TCGA novel	894	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA287493609 rs367555302	900	N>S		No	ClinGen ESP TOPMed gnomAD
rs751849363 CA8362937	902	Y>C		No	ClinGen ExAC gnomAD
CA397940150 rs1209726825	903	K>R		No	ClinGen gnomAD
rs1471400864 CA397940166	905	D>E		No	ClinGen TOPMed
rs926424490 CA287493617	905	D>G		No	ClinGen TOPMed
CA397940199 rs1450777961	910	L>P		No	ClinGen TOPMed
rs777268484 CA8362942	920	E>Q		No	ClinGen ExAC gnomAD
rs770837931 CA8362944	931	P>S		No	ClinGen ExAC gnomAD
CA397940337 rs770837931	931	P>T		No	ClinGen ExAC gnomAD
TCGA novel	932	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel CA397940363 rs1173523949	934	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
CA287493622 rs1056217344	935	N>H		No	ClinGen TOPMed gnomAD
TCGA novel	941	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA287493733 rs760907453	947	I>L		No	ClinGen Ensembl
rs1327994332 CA397940471	948	S>P		No	ClinGen gnomAD
CA8362960 rs748769546	951	D>H		No	ClinGen ExAC gnomAD
TCGA novel	967	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	971	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1451031861 CA397940672	976	M>I		No	ClinGen gnomAD
rs1597968877 CA397940683	978	A>T		No	ClinGen Ensembl
rs778673390 CA8362962	982	L>F		No	ClinGen ExAC gnomAD
rs771700787 CA8362964	984	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	987	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8362965 rs149882575	991	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA397940765 rs1334303794	991	M>V		No	ClinGen TOPMed
TCGA novel	1010	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746769482 CA8362987	1011	G>C		No	ClinGen ExAC gnomAD
CA287493880 rs920135208	1021	I>T		No	ClinGen Ensembl
rs369019964 CA8362991	1023	M>V		No	ClinGen ESP ExAC gnomAD
CA397941058 rs1440211421	1030	N>K		No	ClinGen gnomAD
CA397941055 rs1277397597	1030	N>T		No	ClinGen gnomAD
CA397941069 rs1189087091	1032	P>A		No	ClinGen gnomAD
CA8362993 rs759592183	1033	Y>F		No	ClinGen ExAC
rs1430045677 CA397941106	1037	V>A		No	ClinGen TOPMed
rs1410239914 CA397941103	1037	V>L		No	ClinGen TOPMed gnomAD
TCGA novel	1037	V>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397941113 rs1369690909	1039	A>T		No	ClinGen TOPMed
rs1168126684 CA397941124	1040	M>T		No	ClinGen TOPMed
rs1340847718 CA397941164	1044	K>R		No	ClinGen gnomAD
rs776971795 CA8363020	1049	A>T		No	ClinGen ExAC gnomAD
TCGA novel	1050	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370985532 CA8363021	1054	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs764913346 CA8363022	1054	A>V		No	ClinGen ExAC TOPMed
rs750075465 CA8363023	1056	I>T		No	ClinGen ExAC TOPMed gnomAD
rs866170143 CA287494135	1057	K>E		No	ClinGen Ensembl
CA287494136 rs867026872	1058	S>L		No	ClinGen Ensembl
CA8363026 rs751473230	1063	M>L		No	ClinGen ExAC gnomAD
CA397941284 rs1211774961	1063	M>T		No	ClinGen TOPMed
rs1567857732 CA397941330	1070	R>G		No	ClinGen Ensembl
CA8363028 rs781335877	1070	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1392064473 CA397941359	1074	E>G		No	ClinGen TOPMed gnomAD
CA397941372 rs1231721156	1076	G>R		No	ClinGen TOPMed
CA397941386 rs1162533033	1078	R>*		No	ClinGen gnomAD
rs1343913646 CA397941394	1079	V>A		No	ClinGen gnomAD
TCGA novel	1079	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1083	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397941542 rs1188512432	1097	D>E		No	ClinGen gnomAD
CA397941559 rs1471451791	1100	G>S		No	ClinGen gnomAD
CA8363052 rs747064258	1103	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	1107	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771255294 CA287494685	1109	G>C		No	ClinGen Ensembl
CA397941649 rs1274980815	1113	A>S		No	ClinGen TOPMed
rs890188455 CA287494689	1113	A>V		No	ClinGen TOPMed
TCGA novel	1115	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397941686 rs1597977555	1119	I>L		No	ClinGen Ensembl
rs1350258866 CA397941693	1120	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8363075 rs746347255	1125	P>A		No	ClinGen ExAC TOPMed gnomAD
CA397941744 rs1453786552	1125	P>R		No	ClinGen TOPMed
rs1274009768 CA397941749	1126	G>A		No	ClinGen gnomAD
CA8363079 rs774094485	1137	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA397941823 rs1196766102	1137	R>L		No	ClinGen TOPMed
TCGA novel	1141	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1173118612 CA397941865	1144	N>S		No	ClinGen gnomAD
rs75299897 CA287494852	1152	I>S		No	ClinGen Ensembl
rs751715336 CA8363088	1152	I>V		No	ClinGen ExAC gnomAD
TCGA novel	1159	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA287494962 rs867862540	1172	R>W		No	ClinGen Ensembl
CA397942093 rs1597980372	1176	A>T		No	ClinGen Ensembl
CA397942099 rs1597980385	1177	N>H		No	ClinGen Ensembl
rs1402662316 CA397942105	1177	N>K		No	ClinGen gnomAD
CA287494967 rs946221977	1183	R>L		No	ClinGen Ensembl
TCGA novel	1183	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8363121 rs769694017	1188	A>G		No	ClinGen ExAC gnomAD
CA397942176 rs1314577386	1188	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1352452244 CA397942201	1192	E>Q		No	ClinGen gnomAD
rs762693054 CA8363123	1193	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
RCV000660653 rs1555612691	1202	M>missing		No	ClinVar dbSNP
RCV001311111 rs1970542838	1203	M>T		No	ClinVar dbSNP
CA397942362 rs1209357693	1207	L>V		No	ClinGen gnomAD
TCGA novel	1210	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775517469 CA8363125	1210	R>Q		No	ClinGen ExAC gnomAD
CA287494982 rs775581978 COSM985489	1210	R>W	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
TCGA novel	1218	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA287494989 rs868688609	1219	S>F		No	ClinGen Ensembl
CA397942532 rs1281134934	1224	E>Q		No	ClinGen TOPMed
CA397942566 rs765800908	1227	D>H		No	ClinGen ExAC gnomAD
rs765800908 CA8363130	1227	D>N		No	ClinGen ExAC gnomAD
rs766775771 CA8363133	1242	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA397943344 rs1297895876	1245	N>K		No	ClinGen TOPMed
rs1227382709 CA397943484	1257	N>D		No	ClinGen gnomAD
CA397943492 rs1342071788	1257	N>K		No	ClinGen TOPMed gnomAD
CA8363151 rs146583144	1257	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8363152 rs755334922	1258	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1259	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752365619 CA8363154	1261	A>S		No	ClinGen ExAC TOPMed gnomAD
COSM985495 CA397943528 rs752365619	1261	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1195683270 CA397943535	1261	A>V		No	ClinGen gnomAD
rs777268578 CA8363156	1262	R>W		No	ClinGen ExAC TOPMed gnomAD
CA397943609 rs1475696040	1269	D>N		No	ClinGen gnomAD
rs745637501 CA8363160	1270	A>T		No	ClinGen ExAC gnomAD
rs1391986647 CA397943633	1271	T>A		No	ClinGen gnomAD
CA397943690 rs1160138249	1276	V>M		No	ClinGen gnomAD
rs1328748603 CA397943737	1279	M>I		No	ClinGen TOPMed gnomAD
rs773416384 CA8363165	1279	M>V		No	ClinGen ExAC gnomAD
CA397943761 rs1228767165	1281	E>D		No	ClinGen gnomAD
CA8363167 rs150214574	1284	S>T		No	ClinGen ESP ExAC gnomAD
rs1451685142 CA397943834	1288	V>M		No	ClinGen gnomAD
rs1273986977 CA397943877	1292	V>I		No	ClinGen gnomAD
CA397943920 rs1198650914	1296	E>K		No	ClinGen TOPMed
CA8363170 rs767877300	1297	D>E		No	ClinGen ExAC gnomAD
CA397943945 rs1407463458	1298	K>E		No	ClinGen TOPMed gnomAD
CA287496243 rs997903953	1299	I>S		No	ClinGen gnomAD
CA397944011 rs997903953	1299	I>T		No	ClinGen gnomAD
CA397944022 rs1410414416	1300	E>G		No	ClinGen TOPMed gnomAD
CA8363207 rs778853591	1302	I>T		No	ClinGen ExAC gnomAD
CA287496250 rs138752707	1304	R>Q		No	ClinGen ESP TOPMed
CA397944196 rs1206448839	1315	P>H		No	ClinGen gnomAD
rs746005179 CA8363208	1324	H>Q		No	ClinGen ExAC gnomAD
CA8363209 rs772543789	1326	Y>C		No	ClinGen ExAC
CA397944328 rs1413897314	1327	E>A		No	ClinGen TOPMed
rs1597984968 CA397944323	1327	E>K		No	ClinGen Ensembl
rs1036613104 CA287496253	1335	R>Q		No	ClinGen TOPMed
CA397944421 rs1417621259	1335	R>W		No	ClinGen TOPMed gnomAD
CA397944540 rs1254366821	1347	V>I		No	ClinGen TOPMed gnomAD
rs559322845 CA397944585	1350	N>K		No	ClinGen 1000Genomes ExAC gnomAD
rs776281485 CA8363213	1353	A>V		No	ClinGen ExAC gnomAD
rs1401422088 CA397944649	1356	D>N		No	ClinGen gnomAD
rs1461150734 CA397944663	1357	Q>E		No	ClinGen gnomAD
CA397944746 rs1221570088	1358	D>E		No	ClinGen gnomAD
rs780103840 CA8363245	1362	E>Q		No	ClinGen ExAC gnomAD
CA397944819 rs1405887043	1364	S>L		No	ClinGen gnomAD
CA397944830 rs1199350980	1366	G>S		No	ClinGen TOPMed
CA8363248 rs781745065	1368	E>Q		No	ClinGen ExAC gnomAD
rs1249817210 CA397944898	1371	D>E		No	ClinGen TOPMed
CA397944926 rs1441034684	1374	F>V		No	ClinGen gnomAD
rs564692781 CA8363252	1375	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA287496525 rs993747779	1377	R>C		No	ClinGen TOPMed gnomAD
CA287496526 rs1026940014	1377	R>H		No	ClinGen gnomAD
rs536279451	1380	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1165994865 CA397945031	1381	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1465842909	1384	S>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1442539955 CA397945237	1389	R>Q		No	ClinGen gnomAD
CA397945276 rs1332216527	1394	K>R		No	ClinGen gnomAD
rs1405378133 CA397945321	1402	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8363271 rs749724796	1404	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1172903722 CA397945353	1407	I>T		No	ClinGen TOPMed gnomAD
CA397945426 rs1255106821	1413	N>S		No	ClinGen gnomAD
CA287496763 rs988899892	1418	K>R		No	ClinGen TOPMed
TCGA novel	1423	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1426	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000515479 CA397945580 rs1555613750	1427	W>*		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	1429	M>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1201946201 CA397945617	1430	P>S		No	ClinGen TOPMed
CA397945635 rs1363052414	1432	Q>P		No	ClinGen gnomAD
rs1270554534 CA397945662	1434	A>V		No	ClinGen gnomAD
rs1312680415 CA397945678	1436	T>S		No	ClinGen gnomAD
rs201727011 CA8363291	1441	V>G		No	ClinGen ExAC gnomAD
rs745547262 CA8363292	1442	R>G		No	ClinGen ExAC gnomAD
rs1210009700 CA397945761	1443	D>E		No	ClinGen gnomAD
CA8363295 rs779604288	1443	D>G		No	ClinGen ExAC gnomAD
rs1277961373 CA397945785	1446	G>C		No	ClinGen gnomAD
rs1597991437 CA397945810	1448	T>I		No	ClinGen Ensembl
rs757998630 CA287496790	1452	F>S		No	ClinGen Ensembl
rs746550117 CA8363296	1453	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA8363357 rs753731518	1454	A>T		No	ClinGen ExAC gnomAD
CA397945940 rs1359431103	1454	A>V		No	ClinGen TOPMed gnomAD
CA8363359 rs778846206	1460	M>T		No	ClinGen ExAC gnomAD
CA8363360 rs745707523 COSM985514	1461	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs200904309 CA397946103 CA397946102	1469	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs769780640 CA8363364	1470	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1405360009 CA397946127	1472	E>A		No	ClinGen TOPMed
rs773705442 COSM3820881 CA8363365	1476	D>N	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA
rs1179323033 CA397946190	1478	V>I		No	ClinGen gnomAD
CA8363368 rs773079818	1480	R>Q		No	ClinGen ExAC gnomAD
rs771529896 CA8363367	1480	R>W		No	ClinGen ExAC gnomAD
CA8363370 rs138883221	1485	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs138883221 CA287497076	1485	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA397946257 rs775142325	1485	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs775142325 CA8363371	1485	R>L		No	ClinGen ExAC TOPMed gnomAD
CA397946319 rs1159274479	1491	R>C		No	ClinGen TOPMed
rs1446965626 CA397946332	1492	I>T		No	ClinGen gnomAD
rs1362313231 CA397946327	1492	I>V		No	ClinGen TOPMed
rs535728192 CA287497085	1495	M>T		No	ClinGen 1000Genomes gnomAD
rs756894673 CA8363374	1498	V>I		No	ClinGen ExAC TOPMed gnomAD
rs757119865 CA8363375	1499	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1245305342 CA397946465	1502	V>M		No	ClinGen gnomAD
rs766274849 CA8363396	1507	H>R		No	ClinGen ExAC gnomAD
rs147395786 CA8363398	1509	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1186700361 CA397946552	1510	G>V		No	ClinGen gnomAD
rs574676236 CA8363399 COSM985518	1511	R>C	Variant assessed as Somatic; 0.0 impact. endometrium haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA8363400 rs749283113	1511	R>H		No	ClinGen ExAC TOPMed gnomAD
CA8363401 COSM179915 rs368103933	1515	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA397946613 rs1567868694	1519	P>L		No	ClinGen Ensembl
CA397946615 rs1296769852	1520	D>H		No	ClinGen gnomAD
rs202059923 CA8363403	1522	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1597996628 CA397946630	1522	S>N		No	ClinGen Ensembl
rs148451716 CA8363404	1523	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA397946639 rs1338921479	1523	A>V		No	ClinGen gnomAD
rs376704763 CA287497238	1524	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA397946649 rs1352931258	1525	S>A		No	ClinGen gnomAD
CA8363406 rs747440932	1525	S>F		No	ClinGen ExAC TOPMed gnomAD
CA397946647 rs1352931258	1525	S>T		No	ClinGen gnomAD
rs1287904338 CA397946653	1526	K>E		No	ClinGen TOPMed gnomAD
rs768154770 CA8363407	1527	R>C		No	ClinGen ExAC gnomAD
CA8363408 rs776370829	1527	R>H		No	ClinGen ExAC TOPMed gnomAD
CA397946663 rs776370829	1527	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1425154829 CA397946673	1529	S>F		No	ClinGen TOPMed gnomAD
CA397946685 rs1597996908	1531	A>S		No	ClinGen Ensembl
CA8363410 rs769436591	1532	S>A		No	ClinGen ExAC gnomAD
rs772927430 CA8363411	1533	S>C		No	ClinGen ExAC gnomAD
rs762974616 CA397946709	1535	T>I		No	ClinGen ExAC TOPMed gnomAD
rs762974616 CA8363412	1535	T>N		No	ClinGen ExAC TOPMed gnomAD
CA287497271 rs553388796	1537	T>M		No	ClinGen Ensembl
rs1193842515 CA397946720	1537	T>S		No	ClinGen TOPMed
CA8363413 rs766478008	1541	T>I		No	ClinGen ExAC TOPMed gnomAD
CA397946745 rs766478008	1541	T>S		No	ClinGen ExAC TOPMed gnomAD
CA397946748 rs1231930593	1542	P>A		No	ClinGen Ensembl
CA287497284 rs1034505202	1548	N>S		No	ClinGen TOPMed
rs764171230 CA8363416	1550	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA287497288 rs960431387	1551	C>R		No	ClinGen TOPMed
CA8363418 rs757259099	1555	P>S		No	ClinGen ExAC gnomAD
rs755506653 CA8363442	1559	A>G		No	ClinGen ExAC gnomAD
rs752113805 CA8363441	1559	A>T		No	ClinGen ExAC gnomAD
rs1347714931 CA397946875	1560	P>L		No	ClinGen TOPMed
CA8363443 rs781610390	1561	S>C		No	ClinGen ExAC gnomAD
CA397946877 rs781610390	1561	S>G		No	ClinGen ExAC gnomAD
rs748576169 CA8363444	1564	G>R		No	ClinGen ExAC gnomAD
CA397946917 rs1172937277	1566	G>V		No	ClinGen gnomAD
CA8363446 rs375896180	1567	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs770485352 CA8363448	1569	T>I		No	ClinGen ExAC gnomAD
CA8363450 rs199768991	1570	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA8363451 rs199768991	1570	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs774087352 CA8363449	1570	P>S		No	ClinGen ExAC gnomAD
rs933768079 CA287497387	1572	E>A		No	ClinGen TOPMed
rs775242396 CA8363452	1574	E>K		No	ClinGen ExAC gnomAD
TCGA novel	1578	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs139484082 CA8363453	1579	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1160718822 CA397947004	1580	E>K		No	ClinGen TOPMed
rs143122467 CA8363454	1581	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1581	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1406828485 CA397947020	1582	K>E		No	ClinGen TOPMed
CA8363455 rs372490885	1582	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1582	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375597707 CA287497410	1583	P>S		No	ClinGen ESP TOPMed gnomAD
CA8363456 rs762876493	1584	E>D		No	ClinGen ExAC gnomAD
TCGA novel	1584	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1463892141 CA397947047	1586	N>D		No	ClinGen Ensembl
rs766477734 CA8363457	1586	N>S		No	ClinGen ExAC gnomAD
CA8363458 rs751650978	1587	S>N		No	ClinGen ExAC gnomAD
rs146879057 CA8363459	1589	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA287497429 rs1043347280	1590	G>E		No	ClinGen TOPMed
CA287497431 rs1052874069	1591	E>K		No	ClinGen gnomAD
rs1052874069 CA287497430	1591	E>Q		No	ClinGen gnomAD
CA8363461 rs773741525	1592	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1162732075 CA397947097	1593	M>I		No	ClinGen TOPMed gnomAD
rs1404905899 CA397947093	1593	M>L		No	ClinGen gnomAD
TCGA novel	1594	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8363488 COSM179917 rs551749460	1597	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs1239296394 CA397947155	1600	P>S		No	ClinGen TOPMed gnomAD
TCGA novel	1601	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1178098165 CA397947159	1601	S>G		No	ClinGen gnomAD
rs747936150 CA397947167	1602	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1158956018 CA397947192	1606	L>F		No	ClinGen TOPMed gnomAD
CA8363491 rs771147785	1606	L>P		No	ClinGen ExAC gnomAD
rs1158956018 CA397947191	1606	L>V		No	ClinGen TOPMed gnomAD
rs774463931 CA287497543	1609	R>G		No	ClinGen ExAC TOPMed gnomAD
rs759598225 CA8363493	1609	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs774463931 CA8363492	1609	R>W		No	ClinGen ExAC TOPMed gnomAD
CA287497561 rs868768563	1610	L>M		No	ClinGen Ensembl
rs771073572 CA8363495	1610	L>P		No	ClinGen ExAC TOPMed gnomAD
rs771073572 CA8363494	1610	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1597999521 CA397947216	1611	E>G		No	ClinGen Ensembl
CA397947213 rs1445451061	1611	E>K		No	ClinGen gnomAD
CA287497582 rs866012106	1612	P>T		No	ClinGen Ensembl
rs761248064 CA8363496	1613	R>K		No	ClinGen ExAC gnomAD
rs1355998285 CA397947244	1615	I>T		No	ClinGen TOPMed
CA397947242 rs1468050775	1615	I>V		No	ClinGen TOPMed
rs1170876967 CA397947252	1616	P>L		No	ClinGen TOPMed
rs1280506667 CA397947254	1617	L>V		No	ClinGen gnomAD
rs1427912486 CA397947263	1618	E>A		No	ClinGen TOPMed
CA397947266 rs1344679635	1619	D>N		No	ClinGen gnomAD
CA397947271 rs1217823762	1619	D>V		No	ClinGen TOPMed gnomAD
TCGA novel	1620	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1597999763 CA397947287	1621	V>G		No	ClinGen Ensembl
rs1281078302 RCV001255113 CA397947282	1621	V>M		No	ClinGen ClinVar dbSNP gnomAD
TCGA novel	1622	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397947302 rs1567870624	1624	V>E		No	ClinGen Ensembl
CA397947304 rs1567870624	1624	V>G		No	ClinGen Ensembl
rs764744887 CA8363497	1624	V>L		No	ClinGen ExAC TOPMed gnomAD
rs764744887 CA397947300	1624	V>M		No	ClinGen ExAC TOPMed gnomAD
rs762116258 CA8363499	1626	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1168820633 CA397947337	1629	E>G		No	ClinGen Ensembl
CA8363502 rs758113276	1630	P>S		No	ClinGen ExAC gnomAD
rs1476956311 CA397947353	1631	E>D		No	ClinGen gnomAD
rs1192675022 CA397947363	1633	G>E		No	ClinGen gnomAD
rs534366813 CA8363503	1635	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1307471209 CA397947381	1636	G>E		No	ClinGen TOPMed
rs1401753022 CA397947392	1638	R>G		No	ClinGen gnomAD
TCGA novel	1639	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1056265737 CA287497724	1643	T>A		No	ClinGen gnomAD
rs1354200713 CA397947443	1643	T>I		No	ClinGen gnomAD
rs752585420 CA8363526	1644	E>G		No	ClinGen ExAC gnomAD
CA397947456 rs1292241915	1645	S>L		No	ClinGen gnomAD
CA397947455 rs1292241915	1645	S>W		No	ClinGen gnomAD
CA8363528 rs146616544	1646	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs749147376 CA8363529	1649	E>Q		No	ClinGen ExAC gnomAD
rs758665200 CA397947484	1650	R>M		No	ClinGen ExAC TOPMed gnomAD
CA8363532 rs375492899 CA8363531	1650	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758665200 CA8363530	1650	R>T		No	ClinGen ExAC TOPMed gnomAD
rs1193842302 CA397947487	1651	G>E		No	ClinGen TOPMed gnomAD
rs368192625 CA8363534	1651	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8363535 rs748588194	1652	E>K		No	ClinGen ExAC gnomAD
CA8363537 rs201161801	1655	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397947536 rs1315723710	1658	G>E		No	ClinGen gnomAD
rs1248242661 CA397947533	1658	G>R		No	ClinGen gnomAD
CA8363540 rs765964328	1661	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1262227496 CA397947565	1662	R>T		No	ClinGen gnomAD
rs760647788 CA397947568	1663	E>K		No	ClinGen TOPMed gnomAD
rs760647788 CA287497760	1663	E>Q		No	ClinGen TOPMed gnomAD
rs774001960 CA8363541	1665	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1020787613 CA287497780	1666	E>K		No	ClinGen TOPMed gnomAD
rs529492744 CA8363543	1667	G>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1668	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs956967754 CA287497853	1668	E>K		No	ClinGen gnomAD
rs1454511156 CA397948033	1670	G>E		No	ClinGen TOPMed gnomAD
rs937659914 CA287497877	1671	D>V		No	ClinGen TOPMed
TCGA novel	1673	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397948216 rs1298854987	1680	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs149185282 CA8363564	1682	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8363563 rs149185282	1682	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759179869 CA8363562	1682	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1971195837 RCV001092403	1685	R>*		No	ClinVar dbSNP
rs763890842 CA8363566	1685	R>P		No	ClinGen ExAC TOPMed gnomAD
rs763890842 CA287498152	1685	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA397948276 rs1253634225	1686	P>Q		No	ClinGen gnomAD
CA397948282 rs1340040540	1687	G>R		No	ClinGen TOPMed
rs375249634 CA287498192	1688	P>R		No	ClinGen ESP
CA8363569 rs757045751	1688	P>S		No	ClinGen ExAC TOPMed gnomAD
rs765110699 CA8363570	1689	R>Q		No	ClinGen ExAC gnomAD
rs1227797666 CA397948319	1690	D>G		No	ClinGen TOPMed
CA397948350 COSM3403345 rs1317429846	1693	R>Q	Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1423167462 CA397948374	1695	N>S		No	ClinGen TOPMed gnomAD
rs1426884513 CA397948387	1696	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA397948381 rs1340080414	1696	G>R		No	ClinGen TOPMed
rs750291304 CA8363571 COSM985527	1697	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs61738372 CA287498212	1697	R>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1698	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8363573 rs781506178	1698	R>Q		No	ClinGen ExAC gnomAD
rs752667381 CA8363574	1701	K>N		No	ClinGen ExAC gnomAD
CA8363575 rs756228318	1703	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8363576 rs778182369	1705	P>T		No	ClinGen ExAC gnomAD
CA397948503 rs1337917410	1706	R>L		No	ClinGen TOPMed gnomAD
CA397948505 rs1337917410 COSM1494088	1706	R>Q	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA287498239 rs903965338	1706	R>W		No	ClinGen TOPMed gnomAD
rs1163650701 CA397948522	1708	M>V		No	ClinGen TOPMed
CA8363577 rs749795882	1710	N>S		No	ClinGen ExAC gnomAD
rs80199415 CA287498270	1713	D>N		No	ClinGen Ensembl
rs751074240 CA8363602	1725	N>S		No	ClinGen ExAC gnomAD
CA397948831 rs1358218895	1728	R>Q		No	ClinGen TOPMed gnomAD
CA397948830 rs1159456316	1728	R>W		No	ClinGen gnomAD
rs776250229 CA8363605	1731	I>V		No	ClinGen ExAC TOPMed gnomAD
CA397948899 rs1453924635 COSM174799	1733	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs773212331 CA8363608	1735	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1285268450 CA397948928	1736	L>V		No	ClinGen gnomAD
CA8363609 rs144309626	1737	N>D		No	ClinGen 1000Genomes ExAC gnomAD
CA8363610 rs201309725	1737	N>S		No	ClinGen ExAC gnomAD
CA8363611 rs751372443	1739	I>V		No	ClinGen ExAC gnomAD
CA397949043 rs1177869677	1745	D>E		No	ClinGen gnomAD
CA397949053 rs1231090974	1746	Y>C		No	ClinGen gnomAD
CA397949055 rs1231090974	1746	Y>F		No	ClinGen gnomAD
CA8363612 rs760933320	1748	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1239126572 CA397949100	1750	A>S		No	ClinGen TOPMed gnomAD
rs1239126572 CA397949097	1750	A>T		No	ClinGen TOPMed gnomAD
rs1598005408 CA397949121	1752	I>V		No	ClinGen Ensembl
CA8363613 rs764343442	1754	L>F		No	ClinGen ExAC gnomAD
CA397949153 rs1467861490	1754	L>R		No	ClinGen gnomAD
rs764343442 CA8363614	1754	L>V		No	ClinGen ExAC gnomAD
CA397949258 rs1394994913	1759	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs776853409 CA8363637	1767	A>T		No	ClinGen ExAC TOPMed gnomAD
rs761816620 CA8363638	1768	Q>K		No	ClinGen ExAC gnomAD
rs1159837319 CA397949433	1772	I>N		No	ClinGen gnomAD
TCGA novel	1772	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397949468 rs1305260716	1774	E>D		No	ClinGen gnomAD
CA397949455 rs1403479740	1774	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA397949493 rs1346354454	1778	T>A		No	ClinGen gnomAD
CA8363641 rs200555446	1779	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1780	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1450231981 CA397949526	1781	N>K		No	ClinGen Ensembl
rs961701028 CA287498842	1781	N>S		No	ClinGen Ensembl
rs1215022909 CA397949579	1785	F>L		No	ClinGen gnomAD
rs1250198874 CA397949622	1789	K>Q		No	ClinGen TOPMed
CA397949704 rs1487730047	1795	R>Q	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1443276023 CA397949835	1802	Q>K		No	ClinGen gnomAD
CA8363656 rs765417103	1803	A>V		No	ClinGen ExAC gnomAD
CA8363657 rs773301679	1811	R>W		No	ClinGen ExAC gnomAD
CA397949958 rs1336103222	1813	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA397949971 rs1598008328	1815	Y>S		No	ClinGen Ensembl
rs555731106 CA287499053	1817	N>T		No	ClinGen 1000Genomes
rs1262168423 CA397949997	1819	S>L		No	ClinGen TOPMed gnomAD
rs1391622314 CA397950002	1820	Q>H		No	ClinGen TOPMed gnomAD
rs766849668 CA8363659	1820	Q>P		No	ClinGen ExAC
CA287499063 rs766849668	1820	Q>R		No	ClinGen ExAC
CA8363660 rs752113004	1822	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1260665617 CA397950022	1823	A>V		No	ClinGen gnomAD
CA8363662 rs767975917	1824	H>P		No	ClinGen ExAC gnomAD
CA397950068 rs1418898769	1830	H>L		No	ClinGen gnomAD
rs1365782473 CA397950075	1831	A>G		No	ClinGen gnomAD
rs1365782473 CA397950074	1831	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1470611701 CA397950080	1832	R>H		No	ClinGen gnomAD
CA397950091 rs755801203	1834	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8363664 rs755801203	1834	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1470988757 CA397950094	1834	A>V		No	ClinGen gnomAD
rs1395649367 CA397950096	1835	E>K		No	ClinGen TOPMed gnomAD
CA397950110 rs1308816944	1837	E>K		No	ClinGen gnomAD
rs1336019039 CA397950122	1838	C>S		No	ClinGen gnomAD
rs778845701 CA8363668	1841	E>A		No	ClinGen ExAC gnomAD
CA397950137 rs1313938382	1841	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1257143311 CA397950162	1844	Q>*		No	ClinGen gnomAD
rs867361811 CA287499095	1847	S>Y		No	ClinGen Ensembl
rs866348643 CA287499099	1849	E>*		No	ClinGen Ensembl
rs1253016230 CA397950207	1850	S>L		No	ClinGen gnomAD
CA397950213 rs1199041657	1852	A>T		No	ClinGen gnomAD
rs958179836 CA287499101	1852	A>V		No	ClinGen gnomAD
CA397950222 rs1177217803	1853	G>A		No	ClinGen gnomAD
rs1236684965 CA397950225	1854	N>D		No	ClinGen gnomAD
rs1372453055 CA397950230	1854	N>K		No	ClinGen gnomAD
rs1306914502 CA397950244	1856	P>R		No	ClinGen TOPMed
rs1396874797 CA397950256	1858	N>S		No	ClinGen gnomAD
rs944136166 CA287499132	1860	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1307429658 CA397950275	1861	L>P		No	ClinGen gnomAD
rs1225803868 CA397950292	1864	V>I		No	ClinGen gnomAD
CA8363710 rs374915623	1874	D>N		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs1323732714 CA397950716	1876	K>R		No	ClinGen TOPMed
CA397950731 rs1598013566	1878	D>A		No	ClinGen Ensembl
CA8363713 rs780823319	1879	V>M		No	ClinGen ExAC TOPMed gnomAD
CA8363715 rs757378178	1880	T>P		No	ClinGen ExAC gnomAD
CA397950777 rs1289202835	1884	A>T		No	ClinGen gnomAD
CA8363717 rs377081442	1885	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1203599231 CA397950812	1888	R>G		No	ClinGen gnomAD
CA397950814 rs1230899870	1888	R>Q		No	ClinGen gnomAD
rs1481419677 CA397950824	1889	I>T		No	ClinGen gnomAD
CA8363719 rs775779961	1890	P>A		No	ClinGen ExAC TOPMed gnomAD
rs769257772 CA287499956	1891	P>A		No	ClinGen ExAC TOPMed gnomAD
CA8363721 rs769257772	1891	P>S		No	ClinGen ExAC TOPMed gnomAD
rs769257772 CA8363722	1891	P>T		No	ClinGen ExAC TOPMed gnomAD
CA397950854 rs1221578557	1893	A>G		No	ClinGen TOPMed
CA397950850 rs1415473359	1893	A>T		No	ClinGen gnomAD
CA8363723 rs762260094	1894	A>T		No	ClinGen ExAC TOPMed gnomAD
CA397950871 COSM985538 rs1412058339	1895	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA8363726 rs762660322	1898	M>T		No	ClinGen ExAC gnomAD
CA397950909 rs1221787653	1900	E>Q		No	ClinGen TOPMed gnomAD
CA8363727 rs765857922 COSM1200966	1901	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA397950926 rs1345633943	1902	S>G		No	ClinGen gnomAD
rs751126466 CA397950962	1906	R>W		No	ClinGen ExAC TOPMed gnomAD
COSM985540 rs200004902 CA8363729	1912	T>M	lung endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA397951028 CA397951027 rs1205575996	1913	E>D		No	ClinGen gnomAD
rs1267798996 CA397951039	1915	H>Y		No	ClinGen gnomAD
CA397951047 rs1340227920	1916	P>A		No	ClinGen gnomAD
CA8363732 rs377747033	1916	P>L		No	ClinGen ESP ExAC gnomAD
rs151264225 CA8363735	1918	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs778076197 CA8363761	1920	Y>S		No	ClinGen ExAC
CA287500326 rs977129868	1921	P>L		No	ClinGen TOPMed gnomAD
rs868762561 CA287500311	1921	P>R		No	ClinGen Ensembl
rs749681638 CA8363762	1921	P>S		No	ClinGen ExAC gnomAD
rs201169642 CA8363764	1922	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201169642 CA287500332	1922	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8363766 rs771611554	1923	G>D		No	ClinGen ExAC gnomAD
CA8363767 rs774924497	1925	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA8363769 rs764168193	1926	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA287500357 rs1045243480	1927	T>I		No	ClinGen TOPMed
CA8363770 rs753648357	1928	P>T		No	ClinGen ExAC gnomAD
CA8363771 rs561278276	1929	P>L	Variant assessed as Somatic; 9.256e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA8363772 rs561278276	1929	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA287500388 rs773081698 CA8363775	1932	G>R		No	ClinGen ExAC TOPMed gnomAD
rs756569009 CA8363777	1933	A>T		No	ClinGen ExAC TOPMed gnomAD
CA8363778 rs140448992	1933	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8363780 rs757648980	1934	A>D		No	ClinGen ExAC gnomAD
rs1296602483 CA397951265	1935	F>V		No	ClinGen TOPMed
rs374465330 CA8363783	1937	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA397951315 rs1202587117	1938	A>E		No	ClinGen TOPMed gnomAD
rs1482536453 CA397951311	1938	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA397951319 rs1202587117	1938	A>V		No	ClinGen TOPMed gnomAD
rs369604836 CA8363785	1939	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs776712947 CA8363789	1940	V>I		No	ClinGen ExAC TOPMed gnomAD
rs776712947 CA8363788 CA287500454	1940	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8363790 rs199825581	1941	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1942	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8363792 rs201498151	1942	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8363791 rs201498151	1942	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397951390 rs1472986834	1943	L>P		No	ClinGen gnomAD
CA8363793 rs767659654	1944	A>T		No	ClinGen ExAC gnomAD
rs138945661 CA8363795	1945	A>T	Variant assessed as Somatic; 9.244e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8363797 rs754341443	1946	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1350706581 CA397951464	1948	A>D		No	ClinGen gnomAD
rs1309516500 CA397951459	1948	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8363798 rs757766809	1949	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1567878882 CA397951547	1953	M>K		No	ClinGen Ensembl
CA8363799 rs779318804	1954	P>R		No	ClinGen ExAC gnomAD
CA8363801 rs758029410	1959	I>T		No	ClinGen ExAC gnomAD
rs368758448 CA8363822	1962	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1963	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747639418 CA8363825	1965	G>D		No	ClinGen ExAC gnomAD
CA397951783 RCV000523079 rs1162303531	1965	G>S		No	ClinGen ClinVar dbSNP gnomAD
rs147004540 CA8363827	1966	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8363826 rs201611412	1966	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1433454689 CA397951832	1968	V>L		No	ClinGen gnomAD
CA8363830 rs774192352	1969	L>V		No	ClinGen ExAC gnomAD
CA8363832 rs760868360	1971	K>R		No	ClinGen ExAC gnomAD
rs768910172 CA8363833	1972	K>E		No	ClinGen ExAC TOPMed
rs768305286	1972	K>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1329089782	1973	E>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
RCV000480289 CA16620644 rs1064795926	1973	E>Q		No	ClinGen ClinVar Ensembl dbSNP
CA397951933 rs1310909264	1974	K>E		No	ClinGen gnomAD
CA287500946 rs559842563 COSM3717744	1976	M>I	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes gnomAD
CA8363834 rs138058125	1977	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1260153651 CA397951996	1979	A>T		No	ClinGen TOPMed gnomAD
rs750901518 CA8363837	1981	V>A		No	ClinGen ExAC
CA397952018 rs1248531611	1981	V>L		No	ClinGen TOPMed gnomAD
CA8363839 rs372395250	1984	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1233103221 CA397952083	1985	L>Q		No	ClinGen TOPMed
CA397952079 rs1157762692	1985	L>V		No	ClinGen gnomAD
CA8363841 rs148625731	1987	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8363840 rs752010370	1987	R>W		No	ClinGen ExAC TOPMed gnomAD
CA397952150 rs1567880340	1989	E>D		No	ClinGen Ensembl
rs781361149 CA8363842	1989	E>V		No	ClinGen ExAC TOPMed gnomAD
CA397952162 rs1325744232	1990	P>L		No	ClinGen TOPMed
RCV001311112 rs1971670741	1991	R>*		No	ClinVar dbSNP
CA8363843 rs141550862	1991	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs777405455 CA8363845	1993	G>R		No	ClinGen ExAC TOPMed gnomAD
CA397952239 rs1598019593	1995	V>G		No	ClinGen Ensembl
CA397952250 rs1381655882	1996	I>F		No	ClinGen gnomAD
rs1306527244 CA397952310	2000	D>N		No	ClinGen TOPMed gnomAD
CA397952314 rs1306527244	2000	D>Y		No	ClinGen TOPMed gnomAD

1 associated diseases with Q12873

[MIM: 618205]: Snijders Blok-Campeau syndrome (SNIBCPS)

An autosomal dominant neurodevelopmental disorder characterized by intellectual disability with a wide range of severity, developmental delay, and impaired speech and language skills. Speech-related problems include dysarthria, speech apraxia, oromotor problems, and stuttering. Additional clinical features are macrocephaly, characteristic facial features such as prominent forehead and hypertelorism, hypotonia, and joint laxity. {ECO:0000269|PubMed:29463886, ECO:0000269|PubMed:30397230}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal dominant neurodevelopmental disorder characterized by intellectual disability with a wide range of severity, developmental delay, and impaired speech and language skills. Speech-related problems include dysarthria, speech apraxia, oromotor problems, and stuttering. Additional clinical features are macrocephaly, characteristic facial features such as prominent forehead and hypertelorism, hypotonia, and joint laxity. {ECO:0000269|PubMed:29463886, ECO:0000269|PubMed:30397230}. Note=The disease is caused by variants affecting the gene represented in this entry.

17 regional properties for Q12873

Type	Name	Position	InterPro Accession
domain	SNF2, N-terminal	755 - 1034	IPR000330
domain	Chromo/chromo shadow domain	506 - 593	IPR000953-1
domain	Chromo/chromo shadow domain	629 - 678	IPR000953-2
domain	Helicase, C-terminal	1062 - 1229	IPR001650
domain	Zinc finger, PHD-type	381 - 424	IPR001965-1
domain	Zinc finger, PHD-type	458 - 501	IPR001965-2
conserved_site	DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site	878 - 887	IPR002464
domain	CHD subfamily II, SANT-like domain	1363 - 1519	IPR009462
domain	Domain of unknown function DUF1087	1293 - 1357	IPR009463
domain	CHD, C-terminal 2	1737 - 1882	IPR012957
domain	CHD, N-terminal	148 - 201	IPR012958
domain	Helicase superfamily 1/2, ATP-binding domain	732 - 944	IPR014001
conserved_site	Zinc finger, PHD-type, conserved site	382 - 423	IPR019786
domain	Zinc finger, PHD-finger	379 - 426	IPR019787-1
domain	Zinc finger, PHD-finger	456 - 503	IPR019787-2
conserved_site	Chromo domain, conserved site	649 - 668	IPR023779
domain	Chromo domain	632 - 682	IPR023780

Functions

		Description
EC Number	3.6.4.12	Acting on ATP; involved in cellular and subcellular movement
Subcellular Localization	Nucleus, PML body Nucleus Cytoplasm, cytoskeleton, microtubule organizing center, centrosome	Associates with centrosomes in interphase and mitosis (PubMed:17626165) Localizes to sites of DNA damage (PubMed:28977666)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
centriolar satellite	A small (70-100 nm) cytoplasmic granule that contains a number of centrosomal proteins; centriolar satellites traffic toward microtubule minus ends and are enriched near the centrosome.
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.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.
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.
PML body	A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection.

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.
helicase activity	Catalysis of the reaction: ATP + H2O = ADP + phosphate, to drive the unwinding of a DNA or RNA helix.
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.
RNA binding	Binding to an RNA molecule or a portion thereof.
transcription cis-regulatory region binding	Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon.
zinc ion binding	Binding to a zinc ion (Zn).

10 GO annotations of biological process

Name	Definition
centrosome cycle	The cell cycle process in which centrosome duplication and separation takes place. The centrosome cycle can operate with a considerable degree of independence from other processes of the cell cycle.
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 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 DNA-templated transcription	Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
regulation of stem cell differentiation	Any process that modulates the frequency, rate or extent of stem cell differentiation.
spindle organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the spindle, the array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during DNA segregation and serves to move the duplicated chromosomes apart.

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
Q14839	CHD4	Chromodomain-helicase-DNA-binding protein 4	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
MKAADTVILW	ARSKNDQLRI	SFPPGLCWGD	RMPDKDDIRL	LPSALGVKKR	KRGPKKQKEN
70	80	90	100	110	120
KPGKPRKRKK	RDSEEEFGSE	RDEYREKSES	GGSEYGTGPG	RKRRRKHREK	KEKKTKRRKK
130	140	150	160	170	180
GEGDGGQKQV	EQKSSATLLL	TWGLEDVEHV	FSEEDYHTLT	NYKAFSQFMR	PLIAKKNPKI
190	200	210	220	230	240
PMSKMMTILG	AKWREFSANN	PFKGSAAAVA	AAAAAAAAAV	AEQVSAAVSS	ATPIAPSGPP
250	260	270	280	290	300
ALPPPPAADI	QPPPIRRAKT	KEGKGPGHKR	RSKSPRVPDG	RKKLRGKKMA	PLKIKLGLLG
310	320	330	340	350	360
GKRKKGGSYV	FQSDEGPEPE	AEESDLDSGS	VHSASGRPDG	PVRTKKLKRG	RPGRKKKKVL
370	380	390	400	410	420
GCPAVAGEEE	VDGYETDHQD	YCEVCQQGGE	IILCDTCPRA	YHLVCLDPEL	DRAPEGKWSC
430	440	450	460	470	480
PHCEKEGVQW	EAKEEEEEYE	EEGEEEGEKE	EEDDHMEYCR	VCKDGGELLC	CDACISSYHI
490	500	510	520	530	540
HCLNPPLPDI	PNGEWLCPRC	TCPVLKGRVQ	KILHWRWGEP	PVAVPAPQQA	DGNPDVPPPR
550	560	570	580	590	600
PLQGRSEREF	FVKWVGLSYW	HCSWAKELQL	EIFHLVMYRN	YQRKNDMDEP	PPLDYGSGED
610	620	630	640	650	660
DGKSDKRKVK	DPHYAEMEEK	YYRFGIKPEW	MTVHRIINHS	VDKKGNYHYL	VKWRDLPYDQ
670	680	690	700	710	720
STWEEDEMNI	PEYEEHKQSY	WRHRELIMGE	DPAQPRKYKK	KKKELQGDGP	PSSPTNDPTV
730	740	750	760	770	780
KYETQPRFIT	ATGGTLHMYQ	LEGLNWLRFS	WAQGTDTILA	DEMGLGKTIQ	TIVFLYSLYK
790	800	810	820	830	840
EGHTKGPFLV	SAPLSTIINW	EREFQMWAPK	FYVVTYTGDK	DSRAIIRENE	FSFEDNAIKG
850	860	870	880	890	900
GKKAFKMKRE	AQVKFHVLLT	SYELITIDQA	ALGSIRWACL	VVDEAHRLKN	NQSKFFRVLN
910	920	930	940	950	960
GYKIDHKLLL	TGTPLQNNLE	ELFHLLNFLT	PERFNNLEGF	LEEFADISKE	DQIKKLHDLL
970	980	990	1000	1010	1020
GPHMLRRLKA	DVFKNMPAKT	ELIVRVELSP	MQKKYYKYIL	TRNFEALNSR	GGGNQVSLLN
1030	1040	1050	1060	1070	1080
IMMDLKKCCN	HPYLFPVAAM	ESPKLPSGAY	EGGALIKSSG	KLMLLQKMLR	KLKEQGHRVL
1090	1100	1110	1120	1130	1140
IFSQMTKMLD	LLEDFLDYEG	YKYERIDGGI	TGALRQEAID	RFNAPGAQQF	CFLLSTRAGG
1150	1160	1170	1180	1190	1200
LGINLATADT	VIIFDSDWNP	HNDIQAFSRA	HRIGQANKVM	IYRFVTRASV	EERITQVAKR
1210	1220	1230	1240	1250	1260
KMMLTHLVVR	PGLGSKAGSM	SKQELDDILK	FGTEELFKDE	NEGENKEEDS	SVIHYDNEAI
1270	1280	1290	1300	1310	1320
ARLLDRNQDA	TEDTDVQNMN	EYLSSFKVAQ	YVVREEDKIE	EIEREIIKQE	ENVDPDYWEK
1330	1340	1350	1360	1370	1380
LLRHHYEQQQ	EDLARNLGKG	KRVRKQVNYN	DAAQEDQDNQ	SEYSVGSEEE	DEDFDERPEG
1390	1400	1410	1420	1430	1440
RRQSKRQLRN	EKDKPLPPLL	ARVGGNIEVL	GFNTRQRKAF	LNAVMRWGMP	PQDAFTTQWL
1450	1460	1470	1480	1490	1500
VRDLRGKTEK	EFKAYVSLFM	RHLCEPGADG	SETFADGVPR	EGLSRQQVLT	RIGVMSLVKK
1510	1520	1530	1540	1550	1560
KVQEFEHING	RWSMPELMPD	PSADSKRSSR	ASSPTKTSPT	TPEASATNSP	CTSKPATPAP
1570	1580	1590	1600	1610	1620
SEKGEGIRTP	LEKEEAENQE	EKPEKNSRIG	EKMETEADAP	SPAPSLGERL	EPRKIPLEDE
1630	1640	1650	1660	1670	1680
VPGVPGEMEP	EPGYRGDREK	SATESTPGER	GEEKPLDGQE	HRERPEGETG	DLGKREDVKG
1690	1700	1710	1720	1730	1740
DRELRPGPRD	EPRSNGRREE	KTEKPRFMFN	IADGGFTELH	TLWQNEERAA	ISSGKLNEIW
1750	1760	1770	1780	1790	1800
HRRHDYWLLA	GIVLHGYARW	QDIQNDAQFA	IINEPFKTEA	NKGNFLEMKN	KFLARRFKLL
1810	1820	1830	1840	1850	1860
EQALVIEEQL	RRAAYLNLSQ	EPAHPAMALH	ARFAEAECLA	ESHQHLSKES	LAGNKPANAV
1870	1880	1890	1900	1910	1920
LHKVLNQLEE	LLSDMKADVT	RLPATLSRIP	PIAARLQMSE	RSILSRLASK	GTEPHPTPAY
1930	1940	1950	1960	1970	1980
PPGPYATPPG	YGAAFSAAPV	GALAAAGANY	SQMPAGSFIT	AATNGPPVLV	KKEKEMVGAL
1990
VSDGLDRKEP	RAGEVICIDD