AiPD: Autoinhibited Protein Database

Q9H6S3

Gene name	EPS8L2 (EPS8R2, PP13181)
Protein name	Epidermal growth factor receptor kinase substrate 8-like protein 2
Names	EPS8-like protein 2, Epidermal growth factor receptor pathway substrate 8-related protein 2, EPS8-related protein 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:64787
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

410-518 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

410-518 (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

3 structures for Q9H6S3

Entry ID	Method	Resolution	Chain	Position	Source
1WWU	NMR	-	A	612-697	PDB
1WXB	NMR	-	A	495-549	PDB
AF-Q9H6S3-F1	Predicted				AlphaFoldDB

787 variants for Q9H6S3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs143833069 RCV000991938 RCV002549772 CA5787001	27	M>T	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001329915 rs1481107650 CA378961470	69	T>M	Hearing loss, autosomal recessive 106 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000501995 rs1554952193	247	V>missing	Hearing loss, autosomal recessive 106 [ClinVar]	Yes	ClinVar dbSNP
CA216939705 RCV001329916 rs940188070	260	N>S	Variant assessed as Somatic; 0.0 impact. Hearing loss, autosomal recessive 106 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
rs775248143 RCV003160119 RCV000991937 CA5787269	265	D>N	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1554952443 RCV000499522	339	S>missing	Hearing loss, autosomal recessive 106 [ClinVar]	Yes	ClinVar dbSNP
rs202247217 CA5786955	3	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs202247217 CA5786954	3	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5786956 rs762542419	4	S>A		No	ClinGen ExAC gnomAD
CA378954713 rs762542419	4	S>P		No	ClinGen ExAC gnomAD
CA378954747 rs1390378489	5	G>A		No	ClinGen gnomAD
rs375020679 CA5786958	5	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5786959 rs757231121	6	A>V		No	ClinGen ExAC TOPMed gnomAD
CA378954783 CA5786962 rs558489382	7	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC TOPMed gnomAD NCI-TCGA
rs558489382 CA5786961	7	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	8	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5786963 rs779200312	9	C>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs748260843 CA5786964	9	C>W		No	ClinGen ExAC TOPMed gnomAD
rs1380959408 CA378954962	11	P>A		No	ClinGen gnomAD
rs772212389 CA5786965	11	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1380959408 CA378954965	11	P>S		No	ClinGen gnomAD
CA5786967 rs747551317	12	G>S		No	ClinGen ExAC gnomAD
CA378955070 rs1217289321	14	T>I		No	ClinGen gnomAD
CA378955082 rs1459320754	15	N>S		No	ClinGen TOPMed
CA378955266 rs1220186047	16	G>S		No	ClinGen gnomAD
rs747090536 CA5786984	17	S>C		No	ClinGen ExAC TOPMed gnomAD
CA5786985 rs757263399	17	S>R		No	ClinGen ExAC gnomAD
rs1590045746 CA378955330	18	L>P		No	ClinGen Ensembl
CA216925299 rs959180926	19	G>S		No	ClinGen TOPMed gnomAD
CA378955367 rs746324962	20	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
RCV000991936 rs12283031 CA5786988	20	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5786987 rs746324962	20	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1590045767 CA378955446	21	S>A		No	ClinGen Ensembl
rs781565230 CA5786991	21	S>C		No	ClinGen ExAC TOPMed gnomAD
rs781565230 CA5786990	21	S>F		No	ClinGen ExAC TOPMed gnomAD
rs760648744 CA378955514	22	D>E		No	ClinGen ExAC TOPMed gnomAD
rs369128855 CA5786995	22	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs369128855 CA5786993	22	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs369128855 CA5786994	22	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1231695481 CA378955536	23	G>D		No	ClinGen TOPMed
rs184546589 CA5786997	23	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378955525 rs184546589	23	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1403100737 CA378955578	25	A>V		No	ClinGen TOPMed gnomAD
rs753552500 CA5786998	26	K>E		No	ClinGen ExAC gnomAD
rs758702698 CA5786999	26	K>M		No	ClinGen ExAC gnomAD
CA378955688 rs1435027837	28	S>N		No	ClinGen TOPMed gnomAD
CA5787002 rs757351065	29	P>L		No	ClinGen ExAC gnomAD
CA5787003 rs553614983	30	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA5787033 rs746494874	35	Q>P		No	ClinGen ExAC gnomAD
rs1367588112 CA378956476	36	R>G		No	ClinGen TOPMed
CA5787035 rs371399082	37	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5787036 rs759479219	38	K>N		No	ClinGen ExAC gnomAD
rs1306252573	38	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378956557 rs1307175480	39	Y>C		No	ClinGen gnomAD
rs769618001 CA5787037	40	S>C		No	ClinGen ExAC gnomAD
rs138277885 CA378956606	41	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767725231 CA5787040	42	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1590046526 CA378956668	43	N>S		No	ClinGen Ensembl
rs1200269060 CA5787041	44	V>I		No	ClinGen TOPMed
CA5787044 rs760681573 COSM3359378	45	I>T	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1479111972 CA378956770	46	M>R		No	ClinGen gnomAD
rs766430379 CA378956785	47	H>D		No	ClinGen ExAC gnomAD
rs1377383772 CA378956796	47	H>L		No	ClinGen gnomAD
rs200967975 CA5787046	47	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs766430379 CA5787045	47	H>Y		No	ClinGen ExAC gnomAD
CA5787048 rs779468624	48	E>G		No	ClinGen ExAC gnomAD
CA378956821 rs374333852	48	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA5787047 rs374333852	48	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA216926246 rs1015744955	49	T>A		No	ClinGen Ensembl
CA378956938 rs753096193	51	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA378956918 rs1296461905	51	Q>R		No	ClinGen gnomAD
CA5787051 rs777583989	52	Y>*		No	ClinGen ExAC gnomAD
CA5787050 rs758189540	52	Y>N		No	ClinGen ExAC gnomAD
CA378956983 rs922891230	53	H>L		No	ClinGen gnomAD
rs746624745 CA5787052	53	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA216926295 rs922891230	53	H>R		No	ClinGen gnomAD
CA378956971 rs1329073492	53	H>Y		No	ClinGen gnomAD
rs143848078 CA5787053	55	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1590052909 CA378961181	56	H>P		No	ClinGen Ensembl
rs1377267201 CA378961187	57	L>V		No	ClinGen gnomAD
CA378961195 rs1213202681	58	A>T		No	ClinGen gnomAD
rs774160453 CA5787079	60	F>L		No	ClinGen ExAC gnomAD
rs879316515 CA216938539	61	I>V		No	ClinGen Ensembl
CA216938542 rs978263219	62	M>I		No	ClinGen Ensembl
rs780112279 CA5787080	62	M>L		No	ClinGen ExAC TOPMed gnomAD
CA5787081 rs771170157	62	M>R		No	ClinGen ExAC gnomAD
rs780112279 CA378961303	62	M>V		No	ClinGen ExAC TOPMed gnomAD
rs865877602 CA216938548	66	E>G		No	ClinGen Ensembl
CA378961391 rs1274356081	67	A>T		No	ClinGen gnomAD
CA5787084 rs765361806	68	I>M		No	ClinGen ExAC TOPMed gnomAD
CA5787085 rs776174071	69	T>A		No	ClinGen ExAC gnomAD
CA5787087 rs764416603	72	D>E		No	ClinGen ExAC TOPMed gnomAD
CA5787089 rs756931416	73	D>N		No	ClinGen ExAC gnomAD
CA378961540 COSM1509722 rs756931416	73	D>Y	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
COSM244297 CA216938565 rs958133411	74	A>T	prostate [Cosmic]	No	ClinGen cosmic curated gnomAD
rs369412251 CA5787092	76	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs750022514 CA5787091	76	R>W		No	ClinGen ExAC TOPMed gnomAD
rs754917863 CA5787095	81	L>P		No	ClinGen ExAC gnomAD
rs778630600 CA5787096	82	S>R		No	ClinGen ExAC TOPMed gnomAD
CA378961934 rs1217154941	83	S>F		No	ClinGen TOPMed gnomAD
TCGA novel	84	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378962007 rs1308471011	85	E>G		No	ClinGen gnomAD
CA5787097 rs554819887	87	I>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs771695054 CA5787098	89	T>I		No	ClinGen ExAC TOPMed gnomAD
CA216938589 rs183629001	89	T>P		No	ClinGen 1000Genomes
CA378962317 rs1262349020	92	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA216938604 rs146495551	94	L>P		No	ClinGen ESP
CA378962380 rs1195778950	96	V>M		No	ClinGen gnomAD
rs139141867 CA5787102	97	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs775689751 CA378962453	98	D>H		No	ClinGen ExAC TOPMed gnomAD
rs775689751 CA5787103	98	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	98	D>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA216938630 rs754017021	99	Q>H		No	ClinGen Ensembl
rs763613823 CA5787104	100	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1297091850 CA378962606	101	L>Q		No	ClinGen gnomAD
CA5787107 rs150769913	102	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA378962642 rs767722803	102	R>P		No	ClinGen ExAC TOPMed gnomAD
CA5787108 rs767722803	102	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5787106 rs150769913	102	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs750104716 CA5787109	104	L>R		No	ClinGen ExAC gnomAD
CA5787111 rs760285785	106	I>M		No	ClinGen ExAC TOPMed gnomAD
CA5787112 rs753332879	107	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA216938659 rs915698835	109	Q>R		No	ClinGen TOPMed
rs1445935437 CA378963847	111	E>D		No	ClinGen TOPMed gnomAD
rs201129457 CA5787139	114	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA216938986 rs959635454 CA378964010	115	F>L		No	ClinGen TOPMed gnomAD
rs1012973631 CA216938989	118	P>L		No	ClinGen TOPMed
rs1590053329 CA378964099	119	T>P		No	ClinGen Ensembl
CA5787141 rs778824922	119	T>R		No	ClinGen ExAC gnomAD
rs1387458924 CA378964123	120	V>M		No	ClinGen TOPMed
rs1022643706 CA216938996	121	Q>R		No	ClinGen TOPMed
TCGA novel	122	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5787142 rs748734159	122	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1260194357 CA378964328	125	T>A		No	ClinGen TOPMed gnomAD
rs968838132 CA216939005	126	V>I		No	ClinGen TOPMed
rs773632598 CA5787144	127	L>F		No	ClinGen ExAC TOPMed gnomAD
CA216939009 rs773632598	127	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	128	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1421884673 CA378964390	128	N>S		No	ClinGen gnomAD
rs1193603753 CA378964377	128	N>Y		No	ClinGen TOPMed gnomAD
rs1168654741 CA378964439	129	Q>H		No	ClinGen gnomAD
rs1476598820 CA378964421	129	Q>R		No	ClinGen gnomAD
rs955864304 CA216939011	133	P>A		No	ClinGen TOPMed gnomAD
CA5787146 rs771226190	133	P>R		No	ClinGen ExAC gnomAD
rs1276227717 CA378964547	134	S>F		No	ClinGen gnomAD
rs1313642042 CA378964534	134	S>P		No	ClinGen gnomAD
CA5787148 rs376502072	136	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA5787149 rs764853873	136	L>P		No	ClinGen ExAC gnomAD
rs1212379658 CA378964639	138	L>I		No	ClinGen gnomAD
rs1212379658 CA378964640	138	L>V		No	ClinGen gnomAD
rs1487694394 CA378964661	139	V>A		No	ClinGen gnomAD
CA5787152 rs368598389 CA216939018	139	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA378964645 rs368598389	139	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA5787153 rs568385251	140	C>W		No	ClinGen 1000Genomes ExAC gnomAD
rs1440188017 CA378964728	142	D>G		No	ClinGen TOPMed gnomAD
rs757143018 CA5787154	143	S>L		No	ClinGen ExAC TOPMed gnomAD
CA5787155 rs767384396	145	Q>E		No	ClinGen ExAC gnomAD
rs754127157 CA5787156	145	Q>R		No	ClinGen ExAC gnomAD
rs1343985212 CA378964830	146	S>R		No	ClinGen TOPMed
CA378964882 rs1377255155	148	P>L		No	ClinGen gnomAD
rs1395692957 CA378964908	149	D>G		No	ClinGen gnomAD
rs755130479 CA5787157	149	D>H		No	ClinGen ExAC gnomAD
CA5787158 rs779103363	150	V>F		No	ClinGen ExAC gnomAD
CA378964956 rs1256542067	151	H>R		No	ClinGen TOPMed
rs1296253112 CA378964949	151	H>Y		No	ClinGen gnomAD
TCGA novel	154	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378965054 rs1349919033	155	C>*		No	ClinGen TOPMed gnomAD
CA216939048 rs934957546	156	D>G		No	ClinGen Ensembl
rs748168915 CA5787159	156	D>N		No	ClinGen ExAC gnomAD
CA378965167 rs1564975387	158	V>G		No	ClinGen Ensembl
rs1564975381 CA378965162	158	V>M		No	ClinGen Ensembl
CA378965202 rs1564975408	159	E>G		No	ClinGen Ensembl
rs909888133 CA216939057	159	E>K		No	ClinGen TOPMed
rs1274007862 CA378965341	160	A>V		No	ClinGen gnomAD
CA5787178 rs755290745	165	E>*		No	ClinGen ExAC TOPMed gnomAD
rs867054985 CA216939149	166	D>E		No	ClinGen gnomAD
rs1413509538 CA378965482	167	I>T		No	ClinGen TOPMed
rs1186681415 CA378965513	168	E>G		No	ClinGen gnomAD
rs1415664565 CA378965525	169	S>N		No	ClinGen gnomAD
CA378965529 CA216939155 rs955810683	169	S>R		No	ClinGen TOPMed gnomAD
rs976529477 CA216939159	170	A>S		No	ClinGen TOPMed gnomAD
CA378965585 rs1165434719	171	L>S		No	ClinGen gnomAD
rs765381407 CA5787179	172	A>S		No	ClinGen ExAC gnomAD
rs765381407 CA378965601	172	A>T		No	ClinGen ExAC gnomAD
CA216939165 rs200177008	172	A>V		No	ClinGen Ensembl
rs1299527577 CA378965616	173	D>H		No	ClinGen gnomAD
rs1373347549 CA378965712	175	R>G		No	ClinGen TOPMed gnomAD
CA378965722 rs1395000724	175	R>L		No	ClinGen gnomAD
CA216939186 rs866382650	176	L>M		No	ClinGen Ensembl
CA378965773 rs1209251004	177	G>D		No	ClinGen TOPMed
RCV001941889 rs779909774	178	K>missing		No	ClinVar dbSNP
CA216939196 rs1014864959	178	K>Q		No	ClinGen Ensembl
rs1354158434 CA378965816	178	K>R		No	ClinGen TOPMed gnomAD
rs749057351	179	K>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs758493990 CA5787183	180	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1274143689 CA378965861	180	M>L		No	ClinGen gnomAD
rs1317725617 CA378965896	181	R>G		No	ClinGen TOPMed gnomAD
rs973254815 CA216939206	182	P>L		No	ClinGen Ensembl
CA378965959 rs1253312306	182	P>S		No	ClinGen gnomAD
CA378965986 rs1480993355	183	Q>H		No	ClinGen gnomAD
CA378966028 rs1404683051	184	T>N		No	ClinGen TOPMed gnomAD
TCGA novel	185	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1255285578 CA378966039	185	L>Q		No	ClinGen gnomAD
rs1188601746 CA378966050	186	K>E		No	ClinGen gnomAD
CA216939405 rs866635808	186	K>N		No	ClinGen TOPMed gnomAD
rs916412500 CA216939210	186	K>R		No	ClinGen Ensembl
CA378966388 rs1379690730	187	G>E		No	ClinGen gnomAD
rs1242443820 CA378966364	187	G>R		No	ClinGen gnomAD
CA378966420 rs1254560181	188	H>P		No	ClinGen TOPMed gnomAD
rs1454330041 CA378966445	188	H>Q		No	ClinGen TOPMed gnomAD
CA378966417 rs1191299291	188	H>Y		No	ClinGen gnomAD
rs1157573688 CA378966474	190	E>K		No	ClinGen gnomAD
rs1407868772 CA378966532	192	I>V		No	ClinGen gnomAD
CA378966602 rs369270282	193	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA5787218 rs369270282	193	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs998723580 CA378966643	195	R>G		No	ClinGen TOPMed gnomAD
rs781564437 CA5787219	195	R>P		No	ClinGen ExAC TOPMed gnomAD
CA378966653 rs781564437	195	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs998723580 CA216939413	195	R>W		No	ClinGen TOPMed gnomAD
CA216939422 rs1051208606	197	S>P		No	ClinGen TOPMed gnomAD
rs1051208606 CA378966683	197	S>T		No	ClinGen TOPMed gnomAD
CA378966710 rs1441701058	198	I>L		No	ClinGen gnomAD
rs1221822329 CA378966727	198	I>M		No	ClinGen TOPMed
rs1278982831 CA378966730	199	L>M		No	ClinGen TOPMed gnomAD
CA5787220 rs750896998	200	P>S		No	ClinGen ExAC TOPMed gnomAD
rs939429830 CA216939430	201	P>L		No	ClinGen TOPMed gnomAD
rs1323953516 CA378966801	202	P>L		No	ClinGen gnomAD
CA378966805 rs1320875947	203	Q>E		No	ClinGen gnomAD
rs1274632093 CA378966838	204	G>R		No	ClinGen gnomAD
CA378966886 rs1468683948	205	P>L		No	ClinGen gnomAD
CA5787222 rs201479451	206	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378966900 rs201479451	206	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378966960 rs1461221257	209	P>H		No	ClinGen TOPMed gnomAD
CA378966967 rs1461221257	209	P>L		No	ClinGen TOPMed gnomAD
rs948259806 CA216939442	209	P>T		No	ClinGen TOPMed gnomAD
CA378967010 rs1431005105	211	Q>R		No	ClinGen TOPMed
CA378967046 rs1462125465	213	R>H		No	ClinGen gnomAD
CA216939447 rs904131729	214	G>D		No	ClinGen TOPMed gnomAD
rs375898678 CA5787223	214	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378967075 rs1342558938	215	G>A		No	ClinGen TOPMed
CA378967074 rs1342558938	215	G>E		No	ClinGen TOPMed
CA378967064 rs1204207531	215	G>R		No	ClinGen TOPMed
rs1280062870 CA378967090	216	D>Y		No	ClinGen gnomAD
CA378967119 rs1590054022	217	S>T		No	ClinGen Ensembl
CA378967148 rs1354789697	218	P>L		No	ClinGen TOPMed gnomAD
rs1294849245 CA378967159	219	E>A		No	ClinGen gnomAD
CA378967152 rs1231206706	219	E>K		No	ClinGen gnomAD
rs747662675 CA5787226	222	N>T		No	ClinGen ExAC gnomAD
rs994747279 CA216939463	223	R>C		No	ClinGen Ensembl
rs771552139 CA5787227	223	R>H		No	ClinGen ExAC gnomAD
CA378967271 rs1204653238	224	V>M		No	ClinGen gnomAD
rs773044310 CA5787228	225	G>A		No	ClinGen ExAC TOPMed gnomAD
rs773044310 CA378967311	225	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1409647705 CA378967330	226	P>A		No	ClinGen TOPMed
rs1475138396 CA378967367	228	V>L		No	ClinGen gnomAD
rs1420390714 CA378967435	230	L>H		No	ClinGen gnomAD
CA216939482 rs563361645	231	S>T		No	ClinGen 1000Genomes
rs969250415 CA216939484	232	E>K		No	ClinGen TOPMed gnomAD
rs1269928374 CA378967536	234	G>R		No	ClinGen TOPMed gnomAD
rs1158036470 CA378967598	235	F>L		No	ClinGen TOPMed
rs767597522 CA216939537	236	R>H		No	ClinGen ExAC TOPMed gnomAD
rs767597522 CA5787237	236	R>P		No	ClinGen ExAC TOPMed gnomAD
rs548063340 CA5787238	237	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA378967644 rs1189395178	237	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA378967725 rs1175653866	239	E>D		No	ClinGen gnomAD
rs972700955 CA216939539	239	E>Q		No	ClinGen TOPMed gnomAD
CA378967741 rs1395791123	240	S>L		No	ClinGen gnomAD
rs1452915998 CA378967770	241	Q>E		No	ClinGen gnomAD
rs1297335579 CA378967839	243	E>G		No	ClinGen gnomAD
rs1156747513 CA378967815	243	E>K		No	ClinGen gnomAD
CA216939542 rs570982689	244	P>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs539991215 CA216939543	245	R>Q		No	ClinGen 1000Genomes TOPMed gnomAD
CA378967881 rs1023574847	246	A>S		No	ClinGen TOPMed gnomAD
CA216939547 rs1023574847	246	A>T		No	ClinGen TOPMed gnomAD
CA378967888 rs1303442466	246	A>V		No	ClinGen TOPMed gnomAD
CA378967892 rs1333444852	247	V>A		No	ClinGen gnomAD
rs375649174 CA5787240	247	V>M		No	ClinGen ESP ExAC TOPMed
CA5787242 rs755325006	249	A>T		No	ClinGen ExAC gnomAD
rs369919058 CA5787244	251	K>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA216939555 CA378968006 rs1035263570	251	K>N		No	ClinGen TOPMed gnomAD
CA378968015 rs1268062741	252	I>M		No	ClinGen gnomAD
rs1179556803 CA378968025	253	E>D		No	ClinGen gnomAD
CA216939561 rs11555483	254	K>E		No	ClinGen gnomAD
rs1164014190 CA378968075	256	T>A		No	ClinGen gnomAD
rs956516583 CA216939567	256	T>M		No	ClinGen TOPMed gnomAD
rs758045701 CA5787262	257	Q>H		No	ClinGen ExAC gnomAD
CA378968191 rs7635	258	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1173556170 CA378968174	258	I>V		No	ClinGen gnomAD
rs543575638 CA216939709	261	C>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5787265 rs756665887	262	A>T		No	ClinGen ExAC TOPMed gnomAD
rs144181589 CA5787266	263	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5787268 rs769620020 CA216939728	264	D>E		No	ClinGen ExAC TOPMed gnomAD
rs948764067 CA216939723	264	D>G		No	ClinGen Ensembl
rs1298018061 CA378968300	264	D>N		No	ClinGen gnomAD
rs748379705 CA5787270	266	I>T		No	ClinGen ExAC gnomAD
COSM3375942 rs772330893 CA5787271	267	E>D	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1308329158 CA378968363	268	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs928635668 CA216939741	268	W>C		No	ClinGen gnomAD
CA5787272 rs374243946	269	F>L		No	ClinGen ESP ExAC gnomAD
rs766514830 CA378968405	272	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5787275 rs777308094	272	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs766514830 CA5787274	272	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1444033270 CA378968429	274	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1248329849 CA378968436	275	K>E		No	ClinGen gnomAD
rs760086673 CA5787276	275	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1333380477 CA378968448	276	A>T		No	ClinGen TOPMed
CA378968458 rs1191261049	277	A>T		No	ClinGen gnomAD
TCGA novel	277	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763161283 CA5787280	278	E>D		No	ClinGen ExAC TOPMed gnomAD
rs753091122 CA5787278	278	E>K		No	ClinGen ExAC gnomAD
CA5787281 rs751125269	281	K>E		No	ClinGen ExAC gnomAD
CA216939777 rs898321793	281	K>R		No	ClinGen TOPMed gnomAD
CA5787282 rs756793071	283	L>V		No	ClinGen ExAC gnomAD
CA5787283 rs202056992	285	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs202056992 CA378969290	285	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA378969320 rs1301282148	286	R>Q		No	ClinGen TOPMed gnomAD
rs750411464 CA5787284	286	R>W		No	ClinGen ExAC gnomAD
rs1590054465 CA378969332	287	K>E		No	ClinGen Ensembl
CA5787285 rs377228410	287	K>N		No	ClinGen ESP ExAC gnomAD
rs1219674573 CA378969355 COSM1510103	288	K>R	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA5787286 rs779895659	289	G>R		No	ClinGen ExAC gnomAD
CA378969453 rs1025553208	292	K>M		No	ClinGen TOPMed
CA216939800 rs1025553208	292	K>R		No	ClinGen TOPMed
rs528913760 CA5787291	293	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1211442214 CA378969502	294	K>E		No	ClinGen gnomAD
CA5787293 rs771172702	295	K>R		No	ClinGen ExAC gnomAD
CA5787294 rs1554952298	296	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1407939950 CA378969589	297	P>R		No	ClinGen gnomAD
CA5787299 rs143190988	298	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs143190988 CA5787298	298	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA216940027 rs774082959	300	G>D		No	ClinGen gnomAD
rs1564977010 CA378969842	300	G>S		No	ClinGen Ensembl
CA5787370 rs534982611	301	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1304041291 CA378969867	302	L>H		No	ClinGen gnomAD
rs139209466 CA378969911	305	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs139209466 CA5787374	305	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs761604917 CA378969938	307	R>L		No	ClinGen ExAC TOPMed gnomAD
rs761604917 CA5787377	307	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5787376 rs751399249	307	R>W		No	ClinGen ExAC TOPMed gnomAD
rs577820383 CA5787381	308	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5787380 rs577820383	308	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs557789113 CA5787379	308	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5787383 rs377767118	309	P>H		No	ClinGen ExAC TOPMed gnomAD
CA378969985 rs1163722155	311	E>A		No	ClinGen gnomAD
CA5787385 rs747338886	312	G>C		No	ClinGen ExAC TOPMed gnomAD
CA216940069 rs556776277	312	G>D		No	ClinGen 1000Genomes
rs747338886 CA378969993	312	G>S		No	ClinGen ExAC TOPMed gnomAD
CA378970010 rs1277966927	313	E>D		No	ClinGen TOPMed
CA378970004 rs1325940257	313	E>G		No	ClinGen TOPMed
rs771269989 CA5787386	313	E>K		No	ClinGen ExAC gnomAD
CA378970035 rs1590054798	315	I>V		No	ClinGen Ensembl
rs761405492 CA216940075	316	D>N		No	ClinGen gnomAD
CA378970080 rs1306740024	317	C>R		No	ClinGen gnomAD
CA378970126 rs1352685871	319	Q>E		No	ClinGen gnomAD
CA5787388 rs151294547	321	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5787390 rs775129163	323	L>P		No	ClinGen ExAC gnomAD
CA216940078 rs374778020	323	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1247268544 CA378970249	324	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1170812702 CA378970293	326	N>I		No	ClinGen gnomAD
rs774290772 CA5787393	328	L>Q		No	ClinGen ExAC gnomAD
rs1293203079 CA378970472	329	A>V		No	ClinGen TOPMed
rs1248787173 CA378970480	330	K>E		No	ClinGen TOPMed
rs778467660 CA5787431	330	K>N		No	ClinGen ExAC gnomAD
rs868322295 CA216940215	334	H>N		No	ClinGen TOPMed gnomAD
rs868322295 CA216940216	334	H>Y		No	ClinGen TOPMed gnomAD
rs772958476 CA5787434	335	I>L		No	ClinGen ExAC gnomAD
rs746821396 CA5787435	336	Q>R		No	ClinGen ExAC gnomAD
rs1210245734 CA378970624	337	N>D		No	ClinGen gnomAD
rs770664319 CA378970633	337	N>K		No	ClinGen ExAC TOPMed gnomAD
CA378970638 rs1327849729	338	P>S		No	ClinGen TOPMed
CA216940270 rs140568715	339	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs775721082 CA5787437	339	S>T		No	ClinGen ExAC gnomAD
CA378970672 rs1365953557	340	A>T		No	ClinGen TOPMed
rs529495486 CA5787439	340	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs528336256 CA378970682	341	A>P		No	ClinGen ExAC gnomAD
rs528336256 CA5787441	341	A>S		No	ClinGen ExAC gnomAD
rs528336256 CA5787442	341	A>T		No	ClinGen ExAC gnomAD
rs750908288 CA5787443	341	A>V		No	ClinGen ExAC gnomAD
rs766824390 CA5787445	342	E>K		No	ClinGen ExAC gnomAD
CA378970746 rs1162110790	344	V>A		No	ClinGen gnomAD
rs1435895025 CA378970740	344	V>L		No	ClinGen TOPMed gnomAD
CA378970742 rs1435895025	344	V>M		No	ClinGen TOPMed gnomAD
rs754634551 CA216940298	345	H>Q		No	ClinGen TOPMed gnomAD
rs1415211461 CA378970774	345	H>Y		No	ClinGen gnomAD
rs182315048 CA378970813	346	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378970831 rs1490305208	347	L>F		No	ClinGen TOPMed
CA5787449 rs150473321	348	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1326844042 CA378970837	348	F>V		No	ClinGen gnomAD
rs534711728 CA5787451 CA5787450	349	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	350	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1218814780 CA378970924	351	L>P		No	ClinGen TOPMed gnomAD
rs147750566 CA5787453	352	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1489715427 CA378970977	353	L>P		No	ClinGen gnomAD
rs751072821 CA5787487	354	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs374961305 CA5787486	354	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs142316225 CA216940486	355	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs142316225 CA5787489	355	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5787488 rs756697402	355	V>I		No	ClinGen ExAC TOPMed gnomAD
CA378971165 rs1239502120	356	N>T		No	ClinGen gnomAD
TCGA novel	357	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs995037946 CA216940491	357	T>I		No	ClinGen TOPMed
CA378971193 rs995037946	357	T>N		No	ClinGen TOPMed
rs369273038 CA5787491	358	C>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs564943748 CA5787492	358	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM230210 CA5787493 rs779687045	360	G>D	NS [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1388403883 CA378971288	360	G>S		No	ClinGen gnomAD
CA5787494 rs748464471	361	P>L		No	ClinGen ExAC gnomAD
rs1169164551 CA378971312	361	P>S		No	ClinGen gnomAD
CA5787495 rs758548435	362	D>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	362	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs968762041 CA216940497	363	I>V		No	ClinGen TOPMed gnomAD
rs777310402 CA5787499	364	A>T		No	ClinGen ExAC TOPMed gnomAD
CA378971415 rs1366771966	364	A>V		No	ClinGen gnomAD
CA5787500 COSM1356760 rs746329487	365	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs770244044 CA5787501	365	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	365	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1344748037 CA378971428	366	S>Y		No	ClinGen gnomAD
rs139076159 CA5787503	367	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs373172978 CA5787506	369	C>G		No	ClinGen ESP ExAC gnomAD
rs1564977698 CA378971464	369	C>Y		No	ClinGen Ensembl
rs750420447 CA5787508	370	P>L		No	ClinGen ExAC gnomAD
CA5787507 rs766979324	370	P>T		No	ClinGen ExAC gnomAD
CA378971486 rs1377063673	371	L>M		No	ClinGen gnomAD
CA378971495 rs1476909897	371	L>R		No	ClinGen gnomAD
CA216940517 rs11555484	372	L>F		No	ClinGen gnomAD
CA378971505 rs1425651425	372	L>P		No	ClinGen TOPMed gnomAD
rs11555484 CA378971499	372	L>V		No	ClinGen gnomAD
CA5787509 rs755995594	374	R>*		No	ClinGen ExAC gnomAD
CA378971524 rs755995594	374	R>G		No	ClinGen ExAC gnomAD
rs149377131 CA5787510	374	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs149377131 CA216940523	374	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs954133421 CA216940532	376	A>G		No	ClinGen Ensembl
rs1390167260 CA378971553	376	A>S		No	ClinGen gnomAD
TCGA novel	376	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5787513 rs778165540	377	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1330972759 CA378971594	378	D>E		No	ClinGen gnomAD
CA378971576 rs1564977750	378	D>N		No	ClinGen Ensembl
rs747196483 CA5787515	379	F>L		No	ClinGen ExAC gnomAD
rs143726463 CA216940558	380	L>P		No	ClinGen ESP gnomAD
CA5787517 rs377264227	381	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5787518 rs770206850	381	R>H		No	ClinGen ExAC gnomAD
rs774067035 CA5787520	382	G>C		No	ClinGen ExAC TOPMed gnomAD
rs774067035 CA216940584	382	G>R		No	ClinGen ExAC TOPMed gnomAD
CA5787521 rs774067035	382	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1449758656 CA378971700	386	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA378971747 rs1222879260	389	M>V		No	ClinGen TOPMed
CA378971772 rs767069074	390	S>*		No	ClinGen ExAC TOPMed gnomAD
rs767069074 CA5787524	390	S>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	390	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1413796631 CA378971797	392	W>L		No	ClinGen gnomAD
rs1156501659 CA378971792	392	W>R		No	ClinGen gnomAD
CA378971810 rs1457455834	393	E>K		No	ClinGen TOPMed gnomAD
CA5787527 rs760169630	395	L>P		No	ClinGen ExAC gnomAD
rs753763343 CA5787529	397	E>D		No	ClinGen ExAC TOPMed gnomAD
CA216940630 CA378971895 rs987396784	398	S>R		No	ClinGen TOPMed gnomAD
CA5787530 rs141743910	399	W>S		No	ClinGen ESP ExAC gnomAD
rs1286663744 CA378971916	400	M>L		No	ClinGen TOPMed gnomAD
CA378971926 rs1331411094	400	M>T		No	ClinGen gnomAD
TCGA novel	401	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5787532 rs376500453	401	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs765096109 CA5787531	401	R>W		No	ClinGen ExAC TOPMed gnomAD
rs200418050 CA5787533	403	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs200418050 CA216940640	403	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5787534 rs781407969	403	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1590055506 CA378972471	405	E>G		No	ClinGen Ensembl
CA216940785 rs989243676	405	E>K		No	ClinGen TOPMed gnomAD
CA5787558 rs755470393	407	P>L		No	ClinGen ExAC gnomAD
rs867079557 CA216940788	407	P>S		No	ClinGen Ensembl
CA378972502 rs748530276	408	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5787561 rs772435446	408	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs748530276 CA378972503	408	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1315773526 CA378972512	409	E>G		No	ClinGen gnomAD
rs200209713 CA378972523	410	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs200209713 CA5787562	410	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA5787563 rs377604658	411	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1299781998 CA378972559	412	V>A		No	ClinGen gnomAD
rs1254039951 CA378972569	413	P>L		No	ClinGen gnomAD
rs776268694 CA5787565	413	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs759615652 CA378972571	414	L>I		No	ClinGen ExAC TOPMed gnomAD
CA5787566 rs759615652	414	L>V		No	ClinGen ExAC TOPMed gnomAD
rs10902205 CA378972618 CA378972619	415	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5787567 rs769866383	415	Y>C		No	ClinGen ExAC gnomAD
CA5787569 rs762870818	416	V>M		No	ClinGen ExAC TOPMed gnomAD
rs750658410 CA5787571	418	K>N		No	ClinGen ExAC gnomAD
rs763916663 CA5787570	418	K>R		No	ClinGen ExAC gnomAD
rs766431718 CA5787573	422	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1337065241 CA378972771	424	E>D		No	ClinGen TOPMed
CA378972779 rs1256825303	425	P>L		No	ClinGen TOPMed gnomAD
CA378972775 rs1471051396	425	P>S		No	ClinGen gnomAD
rs373162269 CA5787576	426	P>S		No	ClinGen ESP ExAC gnomAD
rs753165091 CA5787578	427	V>E		No	ClinGen ExAC gnomAD
rs753165091 CA5787577	427	V>G		No	ClinGen ExAC gnomAD
CA378972790 rs1387957094	427	V>M		No	ClinGen TOPMed gnomAD
CA378972808 rs1362496303	429	V>M		No	ClinGen gnomAD
rs778179402 CA5787579	430	L>P		No	ClinGen ExAC gnomAD
rs1313759203 CA378972846	432	E>K		No	ClinGen TOPMed gnomAD
CA378972863 rs1454081873	433	A>T		No	ClinGen TOPMed
CA378972868 rs1223715606	433	A>V		No	ClinGen gnomAD
rs1267179274 CA378972875	434	P>S		No	ClinGen gnomAD
CA378972887 rs1242198783	435	W>*		No	ClinGen TOPMed gnomAD
CA378972884 rs1209999276	435	W>R		No	ClinGen gnomAD
rs975172054 CA216940897	437	V>M		No	ClinGen TOPMed
rs756930610 CA5787581	438	E>K		No	ClinGen ExAC gnomAD
rs745393219 CA5787583	441	A>V		No	ClinGen ExAC gnomAD
CA216940917 rs952488248	444	P>L		No	ClinGen TOPMed gnomAD
rs1455851809 CA378973032	445	I>M		No	ClinGen TOPMed gnomAD
rs1411579027 CA378973020	445	I>V		No	ClinGen gnomAD
rs775607895 CA378973037	446	E>*		No	ClinGen ExAC TOPMed gnomAD
rs775607895 CA5787585	446	E>K		No	ClinGen ExAC TOPMed gnomAD
rs775607895 CA5787586	446	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs749248354 CA5787606	448	V>M		No	ClinGen ExAC TOPMed gnomAD
rs768640571 CA378973179	449	S>N		No	ClinGen ExAC TOPMed gnomAD
rs768640571 CA5787607	449	S>T		No	ClinGen ExAC TOPMed gnomAD
CA5787608 rs774101637	453	R>*		No	ClinGen ExAC TOPMed gnomAD
rs371425662 CA5787609	453	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA378973239 rs1238856059	454	Q>H		No	ClinGen TOPMed
CA378973254 rs1376990776	456	I>T		No	ClinGen TOPMed
CA5787610 rs771818982	456	I>V		No	ClinGen ExAC gnomAD
rs776882190 CA5787611	458	N>H		No	ClinGen ExAC gnomAD
rs759733773 CA5787612	458	N>I		No	ClinGen ExAC gnomAD
rs1323935659 CA378973273	459	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA378973288 rs1450033956	461	K>R		No	ClinGen TOPMed
CA5787613 rs769920220	464	P>T		No	ClinGen ExAC gnomAD
CA5787615 rs762876409	465	T>A		No	ClinGen ExAC gnomAD
CA5787616 rs142895363	466	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA5787617 rs147420345	468	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5787619 rs762278579 COSM1703323	469	T>I	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs750154367 CA5787621	470	P>S		No	ClinGen ExAC gnomAD
rs60889456 RCV000991935 CA5787624	471	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs60889456 CA5787625	471	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1445355706 CA378973383	471	P>T		No	ClinGen gnomAD
rs777531540 CA5787631	473	D>G		No	ClinGen ExAC gnomAD
rs780857388	473	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA378973406 rs1247320251	473	D>N		No	ClinGen gnomAD
CA378973451 rs1216635136	478	V>I		No	ClinGen gnomAD
CA378973461 rs1442018305	479	S>G		No	ClinGen gnomAD
CA378973467 rs1202038335	479	S>I		No	ClinGen gnomAD
CA378973484 rs1461863314	481	P>L		No	ClinGen gnomAD
rs1245026471 CA378973480	481	P>S		No	ClinGen gnomAD
TCGA novel	482	H>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA216941364 rs937596404	483	T>P		No	ClinGen TOPMed
CA5787634 rs200341896	484	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA378973527 rs1388307743	485	R>G		No	ClinGen gnomAD
CA378973528 rs1210851189	485	R>K		No	ClinGen gnomAD
CA378973643 rs1201233215	486	G>A		No	ClinGen gnomAD
rs1489843649 CA378973641	486	G>R		No	ClinGen gnomAD
rs1201233215 CA378973644	486	G>V		No	ClinGen gnomAD
CA5787662 rs759101308	493	M>I		No	ClinGen ExAC TOPMed gnomAD
CA5787661 rs776399035	493	M>T		No	ClinGen ExAC gnomAD
CA378973693 rs1356715934	494	A>T		No	ClinGen TOPMed
rs928512677 CA216942648	494	A>V		No	ClinGen TOPMed
CA5787664 rs752208423	495	K>E		No	ClinGen ExAC gnomAD
CA5787665 rs757847920	496	Y>H		No	ClinGen ExAC gnomAD
CA5787667 rs369088154	497	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs369088154 CA5787668	497	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5787669 rs149900433	503	F>L		No	ClinGen ESP ExAC
rs373356998 CA5787670	506	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs755156774 CA5787671	506	R>L		No	ClinGen ExAC TOPMed gnomAD
rs755156774 CA5787672	506	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5787676 CA5787675 rs772241586	509	N>K		No	ClinGen ExAC TOPMed gnomAD
CA5787673 rs770107761	509	N>S		No	ClinGen ExAC gnomAD
rs771388674 CA5787677	510	E>K		No	ClinGen ExAC gnomAD
rs759877698 CA5787679	512	S>L		No	ClinGen ExAC gnomAD
CA378973809 rs1193717985	513	V>L		No	ClinGen gnomAD
CA378973808 rs1193717985	513	V>M		No	ClinGen gnomAD
CA378973814 rs1340427889	514	L>I		No	ClinGen gnomAD
CA216942660 rs148552233	515	K>N		No	ClinGen ESP
rs1252303916 CA378973831	516	D>G		No	ClinGen gnomAD
CA378973828 rs1246103704	516	D>N		No	ClinGen gnomAD
CA378973841 rs768233960	517	E>D		No	ClinGen TOPMed
rs1564979232 CA378973852	519	L>P		No	ClinGen Ensembl
rs770158052 CA5787699	521	V>M		No	ClinGen ExAC gnomAD
TCGA novel	521	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1462669028 CA378974502	524	D>E		No	ClinGen gnomAD
rs983271016 CA216942820	525	G>C		No	ClinGen Ensembl
CA5787700 rs775170562	526	R>G		No	ClinGen ExAC TOPMed gnomAD
CA378974518 rs1404001039	526	R>L		No	ClinGen gnomAD
CA5787701 rs184903112	528	W>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1375311858 CA378974558	530	K>E		No	ClinGen gnomAD
CA216942822 rs963452480	531	L>M		No	ClinGen Ensembl
CA5787702 rs768220741	532	R>H		No	ClinGen ExAC TOPMed gnomAD
CA5787703 rs549326536	534	R>L		No	ClinGen 1000Genomes ExAC gnomAD
CA5787704 rs549326536	534	R>P		No	ClinGen 1000Genomes ExAC gnomAD
rs569301635 CA378974633	535	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA216942827 rs941486166	536	G>S		No	ClinGen TOPMed
rs377042373 CA5787706	537	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs982350211 CA216942828	537	Q>R		No	ClinGen Ensembl
CA378974677 rs1208215548	539	G>A		No	ClinGen TOPMed gnomAD
CA378974689 rs1325053965	540	Y>C		No	ClinGen gnomAD
CA5787710 rs753030452	541	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5787709 rs753030452	541	V>M		No	ClinGen ExAC TOPMed gnomAD
rs757313139 CA5787713	543	C>*		No	ClinGen ExAC gnomAD
CA5787712 rs751605806	543	C>R		No	ClinGen ExAC gnomAD
rs781582829 CA5787714	546	L>V		No	ClinGen ExAC TOPMed gnomAD
CA216942836 rs1052534284	549	A>V		No	ClinGen TOPMed
CA216942838 rs893931311	551	P>Q		No	ClinGen gnomAD
rs780391325 CA5787717	552	E>K		No	ClinGen ExAC gnomAD
rs201169986 CA5787718	553	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	555	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5787721 rs761257702	556	A>V		No	ClinGen ExAC TOPMed gnomAD
CA378974929 rs1373730132	557	P>L		No	ClinGen TOPMed
CA5787723 rs773075093	557	P>S		No	ClinGen ExAC TOPMed gnomAD
CA216942850 rs1004755633	558	F>S		No	ClinGen Ensembl
CA5787726 rs753695203	559	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA378975042 rs1483428126	561	A>T		No	ClinGen TOPMed
rs376984228 CA5787747	562	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5787748 rs376984228	562	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376984228 CA378975058	562	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774493052 CA5787750	563	Q>*		No	ClinGen ExAC gnomAD
rs1238562853 CA378975095	564	K>N		No	ClinGen gnomAD
CA5787751 rs762088691 CA378975124	566	W>C		No	ClinGen ExAC gnomAD
CA5787752 rs767567602	567	G>V		No	ClinGen ExAC TOPMed gnomAD
CA378975152 rs1590057898	569	A>T		No	ClinGen Ensembl
rs1233495582 CA378975165	570	S>G		No	ClinGen TOPMed gnomAD
rs1233495582 CA378975164	570	S>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1307966140 CA378975180	571	P>L		No	ClinGen TOPMed
CA5787755 rs766899522	572	T>P		No	ClinGen ExAC
CA5787756 rs754308715	573	H>P		No	ClinGen ExAC gnomAD
rs1445173956 CA378975232	575	L>P		No	ClinGen gnomAD
CA216942943 rs1052911296	575	L>V		No	ClinGen TOPMed gnomAD
CA378975243 rs1411271516	576	P>L		No	ClinGen TOPMed gnomAD
rs755381444 CA5787757	576	P>S		No	ClinGen ExAC TOPMed gnomAD
rs779325145 CA5787758	577	P>L		No	ClinGen ExAC gnomAD
rs1413596780 CA378975252	577	P>S		No	ClinGen TOPMed
TCGA novel	578	S>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs539848608 CA5787759	578	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378975309 rs1385528498	580	P>L		No	ClinGen gnomAD
rs1385528498 CA378975304	580	P>Q		No	ClinGen gnomAD
CA378975306 rs1385528498	580	P>R		No	ClinGen gnomAD
CA378975302 rs1338147350	580	P>S		No	ClinGen TOPMed gnomAD
rs370072010 CA5787760	581	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA378975326 rs1360363684	581	G>V		No	ClinGen gnomAD
rs746540401 CA5787762	583	K>R		No	ClinGen ExAC gnomAD
rs770526607 CA5787763	585	E>K		No	ClinGen ExAC TOPMed gnomAD
rs760872248 CA5787793	587	M>I		No	ClinGen ExAC
rs773469114 CA216943011	587	M>L		No	ClinGen ExAC TOPMed gnomAD
CA378975512 rs1179001186	587	M>R		No	ClinGen TOPMed gnomAD
rs1179001186 CA378975509	587	M>T		No	ClinGen TOPMed gnomAD
rs773469114 CA5787792	587	M>V		No	ClinGen ExAC TOPMed gnomAD
rs904985382 CA216943016	589	H>Y		No	ClinGen gnomAD
rs1384997705 CA378975579	590	M>I		No	ClinGen gnomAD
rs776697676 CA216943020	590	M>L		No	ClinGen ExAC TOPMed gnomAD
rs776697676 CA5787795	590	M>V		No	ClinGen ExAC TOPMed gnomAD
CA378975587 rs1423191096	591	D>G		No	ClinGen TOPMed gnomAD
rs759555926 CA378975615	592	E>D		No	ClinGen ExAC gnomAD
CA378975621 rs1564980329	593	V>F		No	ClinGen Ensembl
rs1488611893 CA378975662	594	N>K		No	ClinGen gnomAD
CA378975650 rs1264595364	594	N>T		No	ClinGen gnomAD
rs541174333 CA216943023	595	D>N		No	ClinGen 1000Genomes gnomAD
CA216943025 rs368269394	596	E>Q		No	ClinGen ESP TOPMed gnomAD
CA5787798 rs765795590	598	I>F		No	ClinGen ExAC TOPMed gnomAD
rs753108796 CA378975730	598	I>S		No	ClinGen ExAC TOPMed gnomAD
rs753108796 CA5787799	598	I>T		No	ClinGen ExAC TOPMed gnomAD
CA5787800 rs763418775	599	R>G		No	ClinGen ExAC gnomAD
CA378975742 rs1314367331	599	R>Q		No	ClinGen TOPMed gnomAD
rs1357210133 CA378975765	600	K>N		No	ClinGen TOPMed gnomAD
CA5787801 rs764347141	604	I>N		No	ClinGen ExAC gnomAD
CA378975877 rs1193769875	606	A>G		No	ClinGen TOPMed gnomAD
rs1193769875 CA378975878	606	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs976017389 CA216943037	607	Q>E		No	ClinGen TOPMed gnomAD
CA378975897 rs1179794073	607	Q>R		No	ClinGen gnomAD
CA216943039 rs751317615	608	P>A		No	ClinGen ExAC gnomAD
CA5787802 rs751317615	608	P>S		No	ClinGen ExAC gnomAD
rs756971984 CA378975934	609	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA5787803 rs756971984	609	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1369723535 CA378975958	610	R>S		No	ClinGen TOPMed
rs1461649278 CA378976020	613	R>H		No	ClinGen TOPMed gnomAD
CA5787806 rs755535370	614	V>M		No	ClinGen ExAC gnomAD
TCGA novel	616	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378976101 rs1336168554	616	R>P		No	ClinGen gnomAD
CA378976133 rs1590058185	617	S>N		No	ClinGen Ensembl
rs780079769 CA5787807	617	S>R		No	ClinGen ExAC gnomAD
rs370759791 CA5787808	619	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs994206566 CA216943048	620	V>A		No	ClinGen TOPMed
CA378976194 rs1224788752	620	V>M		No	ClinGen gnomAD
CA5787811 rs747873495	621	S>T		No	ClinGen ExAC gnomAD
CA5787812 rs771156788	622	Q>L		No	ClinGen ExAC gnomAD
rs1202408840 CA378976259	623	P>L		No	ClinGen TOPMed gnomAD
CA378976294 rs1460332597	625	T>I		No	ClinGen gnomAD
CA378976286 rs1260740554	625	T>S		No	ClinGen gnomAD
TCGA novel	626	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5787814 rs759696313	626	Y>C		No	ClinGen ExAC gnomAD
rs1425968455 CA378976343 COSM545068	627	E>D	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1191503355 CA378976329	627	E>K		No	ClinGen gnomAD
rs776117901 CA5787817	629	G>S		No	ClinGen ExAC gnomAD
rs1251958919 CA378976373	630	P>S		No	ClinGen TOPMed
rs762216678 CA5787821	631	D>E		No	ClinGen ExAC gnomAD
rs1303428385 CA378976383	631	D>N		No	ClinGen gnomAD
TCGA novel	631	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1380250447 CA378976396 COSM3810380	632	E>K	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA378976398 rs1380250447	632	E>Q		No	ClinGen gnomAD
rs1482105040 CA378976420	634	R>C		No	ClinGen TOPMed
rs1482105040 CA378976419	634	R>G		No	ClinGen TOPMed
CA378976430 rs1222546058	635	A>T		No	ClinGen gnomAD
CA216943059 rs1023760057	636	W>C		No	ClinGen TOPMed
CA378976439 rs1590058244	636	W>R		No	ClinGen Ensembl
rs1286175826 CA378976476	639	A>T		No	ClinGen TOPMed
rs750070154 CA5787823	639	A>V		No	ClinGen ExAC gnomAD
CA5787826 rs765791947	640	K>M		No	ClinGen ExAC gnomAD
rs765791947 CA5787825	640	K>R		No	ClinGen ExAC gnomAD
CA5787827 rs754877967	641	A>S	Variant assessed as Somatic; 0.000128 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA216943067 rs1044926801	642	F>V		No	ClinGen Ensembl
CA216943069 rs969566910	645	R>P		No	ClinGen TOPMed gnomAD
CA378976549 rs969566910	645	R>Q		No	ClinGen TOPMed gnomAD
CA378976544 rs1485830085	645	R>W		No	ClinGen gnomAD
rs1415755262 CA378976624	646	I>V		No	ClinGen gnomAD
CA5787849 rs777533697	647	V>L		No	ClinGen ExAC TOPMed gnomAD
CA378976638 rs777533697	647	V>M		No	ClinGen ExAC TOPMed gnomAD
CA378976669 rs1466676181	649	N>T		No	ClinGen gnomAD
CA378976727 rs1415148168	652	I>V		No	ClinGen TOPMed gnomAD
CA5787851 CA378976768 rs756300713	655	G>R		No	ClinGen ExAC TOPMed gnomAD
rs756300713 CA378976769	655	G>W		No	ClinGen ExAC TOPMed gnomAD
rs1282767984 CA378976792	656	P>L		No	ClinGen gnomAD
CA216943124 rs1015712380	657	Q>H		No	ClinGen Ensembl
TCGA novel	659	F>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1272638759 CA378976829	659	F>L		No	ClinGen gnomAD
rs1316312731 CA378976851	659	F>L		No	ClinGen gnomAD
rs768821477 CA378976862	660	S>F		No	ClinGen ExAC gnomAD
CA5787854 rs768821477	660	S>Y		No	ClinGen ExAC gnomAD
CA5787856 rs775047399	661	L>F		No	ClinGen ExAC gnomAD
rs1201734989 CA378976870	661	L>H		No	ClinGen gnomAD
rs775047399 CA5787855	661	L>I		No	ClinGen ExAC gnomAD
rs961484864 CA216943130	663	K>E		No	ClinGen TOPMed gnomAD
rs773451623 CA5787859	665	E>G		No	ClinGen ExAC gnomAD
rs1478618919 CA378976917	665	E>K		No	ClinGen gnomAD
rs202235680 CA378976959 CA5787860	667	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378976953 rs1469712875	667	K>R		No	ClinGen gnomAD
rs765971127 CA5787861	668	K>I		No	ClinGen ExAC gnomAD
rs1449137564 CA378976979	669	V>M		No	ClinGen gnomAD
CA216943137 rs766624240	670	C>S		No	ClinGen Ensembl
rs1449653961 CA378977002	670	C>Y		No	ClinGen TOPMed
rs1283585064 CA378977013	671	G>S		No	ClinGen TOPMed gnomAD
CA216943141 rs764708981	672	E>*		No	ClinGen ExAC gnomAD
rs948690368 CA216943145 CA216943143	672	E>D		No	ClinGen TOPMed gnomAD
rs764708981 CA5787864	672	E>K		No	ClinGen ExAC gnomAD
rs752692927 CA5787865	673	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA378977058 rs1280571942	674	G>R		No	ClinGen TOPMed gnomAD
CA378977056 rs1280571942	674	G>S		No	ClinGen TOPMed gnomAD
CA378977084 rs1214753726	676	R>C		No	ClinGen gnomAD
rs768521279 CA216943149	676	R>L		No	ClinGen Ensembl
CA378977099 rs1590058563	677	V>G		No	ClinGen Ensembl
rs757034596 CA5787869	677	V>M		No	ClinGen ExAC gnomAD
rs754064084 CA5787871	679	S>R		No	ClinGen ExAC gnomAD
rs755167354 CA5787872	680	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1173836498 CA378977145	680	Q>R		No	ClinGen gnomAD
rs555378040 CA5787873	681	L>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs368622557 CA5787875	682	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA378977178 rs1402073198	682	T>S		No	ClinGen gnomAD
CA378977199 rs1272341640	683	M>I		No	ClinGen TOPMed
CA5787876 rs372614859	683	M>T		No	ClinGen ESP ExAC gnomAD
rs879145256 CA216943163	683	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs747365856 CA5787877	684	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA5787879 rs777229058	685	K>E		No	ClinGen ExAC TOPMed gnomAD
CA5787880 rs777229058	685	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA5787881 rs759915269	685	K>T		No	ClinGen ExAC TOPMed gnomAD
CA378977228 rs1244345328	686	A>T		No	ClinGen TOPMed gnomAD
CA5787882 rs572265087	686	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs557981070 CA5787884	688	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1369205491 CA378977578	692	Q>R		No	ClinGen gnomAD
rs781623636 CA5787916	695	S>T		No	ClinGen ExAC gnomAD
rs1336067091 CA378977655	700	L>V		No	ClinGen gnomAD
COSM467390 rs756437745 CA5787918	701	M>I	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA378977669 rs1397490450	701	M>K		No	ClinGen gnomAD
rs1325435615 CA378977682	702	N>S		No	ClinGen gnomAD
CA378977690 rs1216460757	703	K>E		No	ClinGen gnomAD
rs147871566 CA5787920	705	H>N		No	ClinGen ESP ExAC gnomAD
CA216943257 rs925012761 CA378977745	707	M>I		No	ClinGen TOPMed gnomAD
CA216943255 rs764376416	707	M>L		No	ClinGen ExAC TOPMed gnomAD
CA5787921 rs764376416	707	M>V		No	ClinGen ExAC TOPMed gnomAD
rs773916269 CA5787922	708	N>Y		No	ClinGen ExAC gnomAD
CA5787923 rs747551754	710	R>K		No	ClinGen ExAC gnomAD
rs140464832 CA5787925	711	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140464832 CA5787924 RCV000910903	711	R>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5787929 CA5787927 rs202059125	711	R>S		No	ClinGen ExAC TOPMed gnomAD
rs140464832 CA5787926	711	R>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378977791 CA5787931 rs764159379	712	G>R		No	ClinGen ExAC TOPMed gnomAD
CA378977795 rs1321755953	712	G>V		No	ClinGen TOPMed
CA5787930 rs764159379	712	G>W		No	ClinGen ExAC TOPMed gnomAD
CA378977802 rs1404984166	713	E>A		No	ClinGen TOPMed
CA378977798 rs1467540063	713	E>K		No	ClinGen gnomAD
rs1564981057	713	E>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA216943268 rs764456761	714	D>E		No	ClinGen gnomAD
rs750904845 CA5787934	714	D>G		No	ClinGen ExAC gnomAD
rs369916973 CA5787933	714	D>N		No	ClinGen ESP ExAC gnomAD
rs1340761180 CA378977820	715	S>G		No	ClinGen gnomAD
CA5787935 rs201776164	715	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1298600237 CA378977841	716	S>Y		No	ClinGen gnomAD

No associated diseases with Q9H6S3

4 regional properties for Q9H6S3

Type	Name	Position	InterPro Accession
domain	GNAT domain	398 - 549	IPR000182
domain	Elp3/MiaA/NifB-like, radical SAM core domain	91 - 353	IPR006638
domain	Radical SAM	38 - 548	IPR007197
domain	Radical SAM, C-terminal extension	314 - 394	IPR032432

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cell projection, stereocilium	Localizes at the tips of the stereocilia of the inner and outer hair cells
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated 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.
ruffle membrane	The portion of the plasma membrane surrounding a ruffle.
stereocilium bundle	A bundle of cross-linked stereocilia, arranged around a kinocilium on the apical surface of a sensory hair cell (e.g. a neuromast, auditory or vestibular hair cell). Stereocilium bundles act as mechanosensory organelles by responding to fluid motion or fluid pressure changes.
stereocilium tip	A distinct compartment at the tip of a stereocilium, distal to the site of attachment to the apical cell surface. It consists of a dense matrix bridging the barbed ends of the stereocilium actin filaments with the overlying plasma membrane, is dynamic compared to the shaft, and is required for stereocilium elongation.
vesicle	Any small, fluid-filled, spherical organelle enclosed by membrane.

2 GO annotations of molecular function

Name	Definition
actin binding	Binding to monomeric or multimeric forms of actin, including actin filaments.
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.

5 GO annotations of biological process

Name	Definition
positive regulation of ruffle assembly	Any process that activates or increases the frequency, rate or extent of ruffle assembly.
regulation of catalytic activity	Any process that modulates the activity of an enzyme.
regulation of Rho protein signal transduction	Any process that modulates the frequency, rate or extent of Rho protein signal transduction.
Rho protein signal transduction	The series of molecular signals within the cell that are mediated by a member of the Rho family of proteins switching to a GTP-bound active state.
sensory perception of sound	The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound.

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8TE68	EPS8L1	Epidermal growth factor receptor kinase substrate 8-like protein 1	Homo sapiens (Human)	PR
Q8TE67	EPS8L3	Epidermal growth factor receptor kinase substrate 8-like protein 3	Homo sapiens (Human)	PR
Q08509	Eps8	Epidermal growth factor receptor kinase substrate 8	Mus musculus (Mouse)	PR
Q8R5F8	Eps8l1	Epidermal growth factor receptor kinase substrate 8-like protein 1	Mus musculus (Mouse)	PR
Q91WL0	Eps8l3	Epidermal growth factor receptor kinase substrate 8-like protein 3	Mus musculus (Mouse)	PR
Q99K30	Eps8l2	Epidermal growth factor receptor kinase substrate 8-like protein 2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MSQSGAVSCC	PGATNGSLGR	SDGVAKMSPK	DLFEQRKKYS	NSNVIMHETS	QYHVQHLATF
70	80	90	100	110	120
IMDKSEAITS	VDDAIRKLVQ	LSSKEKIWTQ	EMLLQVNDQS	LRLLDIESQE	ELEDFPLPTV
130	140	150	160	170	180
QRSQTVLNQL	RYPSVLLLVC	QDSEQSKPDV	HFFHCDEVEA	ELVHEDIESA	LADCRLGKKM
190	200	210	220	230	240
RPQTLKGHQE	KIRQRQSILP	PPQGPAPIPF	QHRGGDSPEA	KNRVGPQVPL	SEPGFRRRES
250	260	270	280	290	300
QEEPRAVLAQ	KIEKETQILN	CALDDIEWFV	ARLQKAAEAF	KQLNQRKKGK	KKGKKAPAEG
310	320	330	340	350	360
VLTLRARPPS	EGEFIDCFQK	IKLAINLLAK	LQKHIQNPSA	AELVHFLFGP	LDLIVNTCSG
370	380	390	400	410	420
PDIARSVSCP	LLSRDAVDFL	RGHLVPKEMS	LWESLGESWM	RPRSEWPREP	QVPLYVPKFH
430	440	450	460	470	480
SGWEPPVDVL	QEAPWEVEGL	ASAPIEEVSP	VSRQSIRNSQ	KHSPTSEPTP	PGDALPPVSS
490	500	510	520	530	540
PHTHRGYQPT	PAMAKYVKIL	YDFTARNANE	LSVLKDEVLE	VLEDGRQWWK	LRSRSGQAGY
550	560	570	580	590	600
VPCNILGEAR	PEDAGAPFEQ	AGQKYWGPAS	PTHKLPPSFP	GNKDELMQHM	DEVNDELIRK
610	620	630	640	650	660
ISNIRAQPQR	HFRVERSQPV	SQPLTYESGP	DEVRAWLEAK	AFSPRIVENL	GILTGPQLFS
670	680	690	700	710
LNKEELKKVC	GEEGVRVYSQ	LTMQKAFLEK	QQSGSELEEL	MNKFHSMNQR	RGEDS