AiPD: Autoinhibited Protein Database

Q7L0X2

Gene name	ERICH6 (C3orf44, FAM194A)
Protein name	Glutamate-rich protein 6
Names	Protein FAM194A
Species	Homo sapiens (Human)
KEGG Pathway	hsa:131831
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-220 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-220 (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 Q7L0X2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q7L0X2-F1	Predicted				AlphaFoldDB

609 variants for Q7L0X2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA85932983 rs879001645	2	A>T		No	ClinGen Ensembl
CA2665560 rs779874184	3	H>Q		No	ClinGen ExAC gnomAD
CA355013285 rs1161841159	4	L>*		No	ClinGen gnomAD
CA355013287 rs1161627612	4	L>V		No	ClinGen TOPMed
CA355013279 rs927008853	5	R>C		No	ClinGen TOPMed gnomAD
CA85932982 rs927008853	5	R>S		No	ClinGen TOPMed gnomAD
CA355013267 rs201978148	7	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201978148 CA2665558	7	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771142829 CA2665559	7	P>S		No	ClinGen ExAC gnomAD
rs566378378 CA355013259	8	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199862803 CA2665556	9	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs16862795 VAR_032893 CA2665555	9	G>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA355013241 rs1172494479	11	G>E		No	ClinGen gnomAD
CA2665554 rs781209272 CA355013245	11	G>R		No	ClinGen ExAC TOPMed gnomAD
CA2665553 rs755072602	12	D>H		No	ClinGen ExAC TOPMed gnomAD
CA2665552 rs367570666	13	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs367570666 CA355013230	13	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA355013213 rs1250857163	16	K>E		No	ClinGen gnomAD
rs1203979682 CA355013207	16	K>N		No	ClinGen gnomAD
rs1182629020 CA355013204	17	D>Y		No	ClinGen gnomAD
CA2665548 rs141568173	18	Q>*		No	ClinGen ESP ExAC
CA85932981 rs1001087745	18	Q>L		No	ClinGen Ensembl
CA355013191 rs1275821041	19	K>E		No	ClinGen gnomAD
rs1559924861 CA355013187	19	K>M		No	ClinGen Ensembl
TCGA novel	19	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA85932980 rs904110894	20	E>D		No	ClinGen gnomAD
CA2665545 rs761879495	21	S>*		No	ClinGen ExAC gnomAD
rs765060676 CA2665546	21	S>A		No	ClinGen ExAC gnomAD
rs761879495 CA355013175	21	S>L		No	ClinGen ExAC gnomAD
CA355013172 rs1559924826	22	E>Q		No	ClinGen Ensembl
CA2665540 rs771822304 CA355013147	25	L>*		No	ClinGen ExAC TOPMed gnomAD
CA2665541 rs774938568	25	L>V		No	ClinGen ExAC TOPMed gnomAD
rs151102130 CA2665537 CA355013131	27	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140978408 CA2665538	27	E>V		No	ClinGen ExAC TOPMed gnomAD
CA355013128 rs1175495936	28	E>*		No	ClinGen TOPMed
rs1386310387 CA355013127	28	E>A		No	ClinGen TOPMed gnomAD
CA355013124 rs1185824231	28	E>D		No	ClinGen TOPMed gnomAD
CA85932977 rs945574476	29	E>Q		No	ClinGen Ensembl
rs1391607229 CA547368996	30	E>*		No	ClinGen gnomAD
rs1483988849 CA355013111	30	E>G		No	ClinGen gnomAD
rs1483988849 CA355013110	30	E>V		No	ClinGen gnomAD
CA355013105 rs1371989538	31	E>*		No	ClinGen TOPMed
rs1289856842 CA355013097	32	E>*		No	ClinGen TOPMed
CA355013092 rs1481015147	32	E>D		No	ClinGen TOPMed
rs1235410646 CA355013096	32	E>V		No	ClinGen TOPMed gnomAD
rs1480262996 CA355013082	34	V>E		No	ClinGen TOPMed
CA355013080 rs1480262996	34	V>G		No	ClinGen TOPMed
CA85932975 rs565359091	34	V>L		No	ClinGen 1000Genomes ExAC TOPMed
rs565359091 CA2665532	34	V>M		No	ClinGen 1000Genomes ExAC TOPMed
rs1576568223 CA355013070	36	E>Q		No	ClinGen Ensembl
rs966732215 CA85932974	37	E>V		No	ClinGen TOPMed
CA2665530 rs1010915431	38	E>A		No	ClinGen gnomAD
rs1021406160 CA85932973	38	E>K		No	ClinGen Ensembl
rs1010915431 CA85932972	38	E>V		No	ClinGen gnomAD
CA355013048 rs1576568181	39	E>A		No	ClinGen Ensembl
CA355013042 rs1229826923	40	E>*		No	ClinGen gnomAD
CA85932970 rs758986117	41	V>E		No	ClinGen TOPMed gnomAD
rs758986117 CA2665522	41	V>G		No	ClinGen TOPMed gnomAD
CA2665525 rs748605787	41	V>M		No	ClinGen ExAC gnomAD
COSM1419905 rs1054395102 CA355013025	42	E>D	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA355013027 rs1363137892	42	E>V		No	ClinGen TOPMed
CA2665521 rs781677088	43	E>K		No	ClinGen ExAC gnomAD
CA85932968 rs1006647299	43	E>V		No	ClinGen Ensembl
rs1306703790 CA355013016	44	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA85932967 rs889644372	44	E>V		No	ClinGen Ensembl
CA2665517 rs1050781365	45	E>V		No	ClinGen TOPMed gnomAD
CA85932966 rs933783172	46	E>D		No	ClinGen TOPMed
rs1451786512 CA355013003	46	E>K		No	ClinGen TOPMed gnomAD
CA355012994 rs1202838776	47	E>*		No	ClinGen gnomAD
CA2665510 rs780129227	47	E>D		No	ClinGen ExAC TOPMed gnomAD
CA2665511 rs747162108	47	E>V		No	ClinGen ExAC
rs1490205881 CA2665507	48	V>E		No	ClinGen TOPMed
rs1490205881 CA355012986	48	V>G		No	ClinGen TOPMed
CA2665505 rs373770678	49	E>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750151107 CA2665503	51	E>K		No	ClinGen ExAC TOPMed gnomAD
CA355012966 rs1576568035	51	E>V		No	ClinGen Ensembl
CA85932965 rs918252544	52	E>V		No	ClinGen TOPMed
CA85932963 rs908152988	54	E>*		No	ClinGen TOPMed
rs753770853 CA2665496 COSM1039883	54	E>V	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1037073242 CA85932962	55	V>E		No	ClinGen TOPMed
CA2665494 rs372003402	55	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs775122034 CA2665487	56	V>M		No	ClinGen ExAC gnomAD
TCGA novel	56	V>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs573303855 CA2665484	56	V>E		No	ClinGen 1000Genomes TOPMed
rs908459135 CA355012917	59	E>*		No	ClinGen TOPMed
rs908459135 CA85932961	59	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1576567938 CA355012913	59	E>V		No	ClinGen Ensembl
CA85932960 rs867042205	60	L>*		No	ClinGen Ensembl
rs1190435014 CA355012909	60	L>V		No	ClinGen TOPMed
rs1409317512 CA2665478	61	V>G		No	ClinGen TOPMed gnomAD
rs868232013 CA85932959	62	G>E		No	ClinGen Ensembl
rs773899166 CA2665476	68	E>K		No	ClinGen ExAC gnomAD
rs950639693 CA85932958	69	A>V		No	ClinGen TOPMed
rs770087596 CA2665474	71	E>*		No	ClinGen ExAC TOPMed gnomAD
CA355012820 rs1335346403	73	F>S		No	ClinGen TOPMed
rs553066488 CA2665472	74	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs769212470 CA2665471	74	S>N		No	ClinGen ExAC gnomAD
rs190470373 CA2665470	75	E>*		No	ClinGen 1000Genomes ExAC gnomAD
CA2665469 rs190470373	75	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA2665467 rs139130808	77	Y>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA2665466 rs146177223	78	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1487375054 CA355012774	80	K>E		No	ClinGen TOPMed gnomAD
rs779012854 CA2665465	81	V>F		No	ClinGen ExAC TOPMed gnomAD
CA355012757 rs1223495710	82	T>R		No	ClinGen TOPMed
TCGA novel	82	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2665463 rs574602629	85	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2665462 rs764108990	86	D>H		No	ClinGen ExAC gnomAD
rs756168441 CA2665461	87	Y>*		No	ClinGen ExAC gnomAD
rs149284358 CA2665460	88	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA2665459 rs767004871	89	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs751161276 CA2665457	92	P>S		No	ClinGen ExAC gnomAD
rs766091049 CA355012681	93	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1012695543 CA85932957	93	D>G		No	ClinGen gnomAD
CA355012682 rs1012695543	93	D>V		No	ClinGen gnomAD
CA355012677 rs1156570720	94	V>M		No	ClinGen gnomAD
rs762154594 CA2665455	96	P>S		No	ClinGen ExAC TOPMed gnomAD
rs777031388 CA2665454	97	R>C		No	ClinGen ExAC gnomAD
rs769118289 CA2665453	98	L>V		No	ClinGen ExAC TOPMed gnomAD
rs761201834 CA2665452	99	A>D		No	ClinGen ExAC gnomAD
CA355012642 rs1266625328	100	S>N		No	ClinGen gnomAD
rs1559924216 CA355012634	101	I>T		No	ClinGen Ensembl
CA355012637 rs1466123180	101	I>V		No	ClinGen gnomAD
rs775879609 CA2665451	105	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1208414232 CA355012601	106	L>P		No	ClinGen gnomAD
rs1174773933 CA355012598	107	T>A		No	ClinGen TOPMed
rs568739457 CA2665450	107	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355012589 rs1257780006	108	S>F		No	ClinGen gnomAD
rs1032645497 CA85932953 COSM1471563	109	T>M	prostate [Cosmic]	No	ClinGen cosmic curated TOPMed
CA2665448 rs745939491	110	F>I		No	ClinGen ExAC gnomAD
CA2665447 rs575479401	110	F>L		No	ClinGen ExAC TOPMed gnomAD
rs113365967 CA2665446	111	V>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1296950570 CA355012576	111	V>L		No	ClinGen gnomAD
CA355012564 rs1363518042	113	S>C		No	ClinGen gnomAD
CA355012556 rs1289240737	114	Q>*		No	ClinGen TOPMed
CA2665445 rs200274951	114	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs777672193 CA2665444	115	S>N		No	ClinGen ExAC gnomAD
rs538312205 CA2665443	117	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA355012524 rs1304039414	119	T>A		No	ClinGen gnomAD
CA2665442 rs752622857	119	T>S		No	ClinGen ExAC gnomAD
CA355012511 rs1376973478	121	T>A		No	ClinGen gnomAD
rs780997150 CA2665441	121	T>R		No	ClinGen ExAC gnomAD
TCGA novel	122	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2665438 rs751092411	123	S>N		No	ClinGen ExAC gnomAD
rs980258894 CA85932952	124	A>T		No	ClinGen TOPMed
rs1258574439 CA355012478	126	P>S		No	ClinGen TOPMed gnomAD
CA2665435 rs375116331	129	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA355012452 rs1553755901	130	T>N		No	ClinGen Ensembl
rs1009723683 CA85932950	130	T>P		No	ClinGen Ensembl
rs141737555 CA2665434	133	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs964230699 CA85932776	136	F>L		No	ClinGen Ensembl
rs910174034 CA85932775	138	K>E		No	ClinGen Ensembl
CA355012366 rs1405708096	141	Q>R		No	ClinGen gnomAD
rs779496714 CA2665417	142	T>A		No	ClinGen ExAC gnomAD
rs984686716 CA85932774	142	T>I		No	ClinGen TOPMed gnomAD
CA355012347 rs1184376055	144	R>K		No	ClinGen gnomAD
rs764870982 CA2665414	146	D>G		No	ClinGen ExAC gnomAD
rs1026466062 CA85932773 CA355012308	147	M>I		No	ClinGen TOPMed gnomAD
CA355012310 rs1471482334	147	M>R		No	ClinGen TOPMed
rs1200274373 CA355012318	147	M>V		No	ClinGen TOPMed gnomAD
TCGA novel	149	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs192621655 CA2665411	150	M>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA85932772 rs1014322811	151	S>G		No	ClinGen TOPMed gnomAD
CA2665410 rs759999356	151	S>R		No	ClinGen ExAC gnomAD
rs766510891 CA2665408	152	I>T		No	ClinGen ExAC gnomAD
CA2665409 rs775022868	152	I>V		No	ClinGen ExAC TOPMed gnomAD
CA2665407 COSM1251842 rs377529313	153	D>N	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1322787863 CA354959674	156	I>N		No	ClinGen gnomAD
CA354959673 rs1322787863	156	I>T		No	ClinGen gnomAD
CA354959670 rs763115627	157	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2665389 rs763115627	157	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA2665387 rs78132193	158	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2665386 rs113419449	158	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs78132193 CA2665388	158	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1172551085 CA354959660	159	N>H		No	ClinGen gnomAD
CA354959658 rs1172551085	159	N>Y		No	ClinGen gnomAD
CA2665384 rs768275343	162	P>A		No	ClinGen ExAC gnomAD
CA354959635 rs1270698862	162	P>R		No	ClinGen TOPMed
CA2665383 rs371295876	166	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1015048069 CA85690849	167	S>L		No	ClinGen TOPMed gnomAD
rs1447217836 CA354959610	167	S>P		No	ClinGen gnomAD
rs377347256 CA2665380	171	E>D		No	ClinGen ESP ExAC gnomAD
CA2665378 rs756822036	172	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1476135138 CA354959577	172	E>K		No	ClinGen TOPMed
CA85690822 rs970741014	176	Q>*		No	ClinGen TOPMed gnomAD
rs1225938289 CA354959541	177	D>H		No	ClinGen gnomAD
CA85690819 rs1024074275	182	V>A		No	ClinGen Ensembl
TCGA novel	184	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752029105 CA2665373	184	S>L		No	ClinGen ExAC TOPMed gnomAD
CA2665358 rs777278887	185	R>K		No	ClinGen ExAC gnomAD
rs1306760910 CA354958895	187	K>I		No	ClinGen TOPMed gnomAD
rs565711125 CA2665356	188	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs545437917 CA354958892	188	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs545437917 CA2665357	188	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2665355 rs780528531	190	K>E		No	ClinGen ExAC gnomAD
rs774442299 CA2665354	192	K>E		No	ClinGen ExAC TOPMed gnomAD
CA2665353 rs750834382	195	P>H		No	ClinGen ExAC gnomAD
TCGA novel	195	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA85682444 rs112279628	196	E>K		No	ClinGen TOPMed gnomAD
CA354958841 rs112279628	196	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA354958834 rs201934751	197	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2665351 rs201934751	197	C>S	Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA354958831 rs1480181901	197	C>Y		No	ClinGen gnomAD
rs888888175 CA85682432	204	E>K		No	ClinGen Ensembl
CA354958537 rs1559917677	206	W>L		No	ClinGen Ensembl
CA354958518 rs1466429657	208	I>F		No	ClinGen TOPMed gnomAD
rs1266244631 CA354958508	208	I>S		No	ClinGen gnomAD
rs1238460465 CA354958487	210	P>T		No	ClinGen TOPMed gnomAD
rs1559917663 CA354958457	212	E>V		No	ClinGen Ensembl
CA2665334 COSM1536993 rs746306034	213	S>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2665331 rs749295166	214	K>*		No	ClinGen ExAC gnomAD
TCGA novel	216	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs530646116 CA2665330	218	L>*		No	ClinGen 1000Genomes ExAC gnomAD
CA354958381 rs1435292149	218	L>F		No	ClinGen gnomAD
rs556902138 CA85682097	219	Y>C		No	ClinGen gnomAD
TCGA novel	221	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354958342 rs1286573229	221	L>P		No	ClinGen gnomAD
TCGA novel	225	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749754476 CA2665314	226	D>G		No	ClinGen ExAC TOPMed gnomAD
CA2665313 rs778266148	227	F>L		No	ClinGen ExAC gnomAD
rs201144022 CA2665312	228	I>V		No	ClinGen ExAC TOPMed gnomAD
CA2665311 rs748285149	229	T>I		No	ClinGen ExAC gnomAD
CA2665310 rs149996868	231	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs267599648 CA85681998	232	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs751763525 CA2665308	233	P>T		No	ClinGen ExAC gnomAD
rs758145213 CA2665306	237	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs765329143 CA2665304	239	P>S		No	ClinGen ExAC gnomAD
rs143111501 CA2665301	242	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763620445 CA2665300	243	P>L		No	ClinGen ExAC gnomAD
rs1354715359 CA354958164	245	S>T		No	ClinGen gnomAD
CA2665299 rs760333454	246	I>V		No	ClinGen ExAC gnomAD
rs775026485 CA2665298	249	Y>C		No	ClinGen ExAC gnomAD
CA354958122 rs771270007	251	E>A		No	ClinGen ExAC TOPMed gnomAD
CA2665296 rs771270007	251	E>G		No	ClinGen ExAC TOPMed gnomAD
rs749656944 CA2665294	257	G>V		No	ClinGen ExAC gnomAD
CA354958073 rs773696172	258	I>S		No	ClinGen ExAC TOPMed gnomAD
rs773696172 CA2665293	258	I>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	259	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354958022 rs1278940904	263	E>D		No	ClinGen TOPMed gnomAD
CA85679889 rs542080384	263	E>G		No	ClinGen 1000Genomes gnomAD
CA85679894 rs1002352445	263	E>K		No	ClinGen Ensembl
rs1233668883 CA354957997	266	E>D		No	ClinGen gnomAD
CA85679862 rs113746092	267	T>P		No	ClinGen 1000Genomes ESP TOPMed
CA2665271 rs113746092	267	T>S		No	ClinGen 1000Genomes ESP TOPMed
rs1242721037 CA354957961	272	E>A		No	ClinGen TOPMed
rs1559916024 CA354957936	275	G>D		No	ClinGen Ensembl
CA2665268 CA2665266 rs199606951	276	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2665263 rs780306628	277	D>G		No	ClinGen ExAC gnomAD
CA2665264 rs556312892	277	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs556312892 CA2665265	277	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	278	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2665261 rs529540902	280	A>E		No	ClinGen ExAC TOPMed gnomAD
CA354957906 rs1479200927	281	F>I		No	ClinGen TOPMed gnomAD
CA354957903 rs1180210386	281	F>Y		No	ClinGen TOPMed
rs1393253072 CA354957895	282	F>S		No	ClinGen TOPMed
rs777576823 CA2665257	286	D>E		No	ClinGen ExAC gnomAD
rs142979002 CA2665258	286	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142979002 CA2665259	286	D>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA354957864 rs755644907	287	V>F		No	ClinGen ExAC gnomAD
rs755644907 CA2665256	287	V>I		No	ClinGen ExAC gnomAD
rs1444824397 CA354957855	288	S>F		No	ClinGen TOPMed gnomAD
CA354957835 rs1360371081	291	P>L		No	ClinGen TOPMed
rs1354089971 CA354957682	295	A>D		No	ClinGen gnomAD
rs1410829326 CA354957641	298	C>F		No	ClinGen TOPMed gnomAD
CA354957643 rs1410829326	298	C>S		No	ClinGen TOPMed gnomAD
CA2665234 rs758713173	299	I>F		No	ClinGen ExAC gnomAD
CA354957627 rs1168796356	299	I>M		No	ClinGen gnomAD
rs757608734 CA2665233	303	N>H		No	ClinGen ExAC gnomAD
rs764626921 CA2665231	306	D>E		No	ClinGen ExAC gnomAD
CA85678654 rs750598169	306	D>G		No	ClinGen Ensembl
CA2665230 rs573554616	307	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1415576139 CA354957498	308	I>T		No	ClinGen TOPMed gnomAD
CA354957489 rs1483348905	309	Y>C		No	ClinGen gnomAD
rs890009600 CA85678643	309	Y>H		No	ClinGen gnomAD
CA354957471 rs767646036	310	E>D		No	ClinGen ExAC gnomAD
CA2665229 rs776085189	310	E>V		No	ClinGen ExAC gnomAD
CA354957458 rs373206648	311	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1273699650 CA354957467	311	E>K		No	ClinGen TOPMed
rs774710133 CA2665226	312	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs138246191 CA85678626 COSM110452	313	I>K	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1255718590 CA354957409	314	K>I		No	ClinGen TOPMed
rs1332859425 CA354957357	317	P>H		No	ClinGen gnomAD
CA2665224 rs749078568	317	P>S		No	ClinGen ExAC TOPMed gnomAD
rs772844415 CA2665223	318	P>L		No	ClinGen ExAC
rs769654490 CA2665222	319	K>E		No	ClinGen ExAC
rs1293200658 CA354957313	320	A>G		No	ClinGen gnomAD
rs564125362 CA85678600	320	A>S		No	ClinGen Ensembl
rs1293200658 CA354957317	320	A>V		No	ClinGen gnomAD
rs781114643 CA2665219	321	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1319156577 CA354957254	324	A>S		No	ClinGen gnomAD
rs1198304586 CA900618405	325	I>*		No	ClinGen TOPMed
rs754482562 CA2665218	325	I>T		No	ClinGen ExAC gnomAD
rs1441992630 CA354957239	325	I>V		No	ClinGen gnomAD
rs1414943857 CA354957216	326	D>E		No	ClinGen gnomAD
rs746584101 CA2665217	326	D>H		No	ClinGen ExAC TOPMed gnomAD
rs746584101 CA85678584	326	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA2665215 rs758022731	327	P>L		No	ClinGen ExAC gnomAD
CA2665216 rs553424477	327	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA354957161 rs1389893844	328	H>R		No	ClinGen gnomAD
CA2665214 rs146843204	329	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs764314530 CA2665213	329	A>V		No	ClinGen ExAC gnomAD
CA354957076 rs1469475649	330	A>V		No	ClinGen gnomAD
rs753077973 CA2665211	332	G>S		No	ClinGen ExAC gnomAD
CA2665210 rs768204778	333	S>N		No	ClinGen ExAC TOPMed gnomAD
CA354956972 rs1423110201	334	E>K		No	ClinGen TOPMed
rs1161732331 CA354956952	335	V>A		No	ClinGen TOPMed gnomAD
CA85678532 rs369799148	336	D>G		No	ClinGen ESP
CA2665208 rs143930696	336	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA85678531 rs957699283	337	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA354956840 rs766598728	338	L>H		No	ClinGen ExAC TOPMed gnomAD
rs766598728 CA2665207	338	L>R		No	ClinGen ExAC TOPMed gnomAD
rs763038481 CA2665206	341	K>E		No	ClinGen ExAC gnomAD
TCGA novel	342	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354956743 rs1302418769	342	E>G		No	ClinGen TOPMed
CA2665203 rs574120461	347	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA2665179 rs771414919	349	Q>*		No	ClinGen ExAC gnomAD
CA354956501 rs1453764843	349	Q>R		No	ClinGen TOPMed
CA354956461 rs1279149670	351	Q>R		No	ClinGen gnomAD
rs745449756 CA2665178	352	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs144597450 CA2665176	352	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2665177 rs144597450	352	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2665175 rs748980736	353	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA354956395 rs539788084	356	H>N		No	ClinGen ExAC gnomAD
CA2665174 rs539788084	356	H>Y		No	ClinGen ExAC gnomAD
CA85678344 rs995746863	358	A>T		No	ClinGen Ensembl
CA85678311 rs1037222999	359	I>T		No	ClinGen TOPMed gnomAD
CA85678316 rs898662804	359	I>V		No	ClinGen gnomAD
CA354956307 rs1463685739	360	I>T		No	ClinGen gnomAD
rs755408766 CA2665172	360	I>V		No	ClinGen ExAC TOPMed gnomAD
CA354956286 rs1371577016	361	S>*		No	ClinGen gnomAD
rs752047559 CA2665171	361	S>P		No	ClinGen ExAC TOPMed
rs551821428 CA2665169	363	E>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1475599976 CA354956241	364	Q>*		No	ClinGen gnomAD
CA2665168 rs750568655	365	T>I		No	ClinGen ExAC gnomAD
rs750568655 CA2665167	365	T>S		No	ClinGen ExAC gnomAD
TCGA novel	366	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2665166 COSM206333 rs765350689	367	F>L	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA354956111 COSM206333 rs1576553831	367	F>L	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs368823691 CA2665165	368	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA85678278 rs754077814	369	E>K		No	ClinGen ExAC TOPMed gnomAD
rs754077814 CA2665164	369	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs763815823 CA2665163	369	E>V		No	ClinGen ExAC gnomAD
rs948661867 CA85678270	370	D>E		No	ClinGen TOPMed gnomAD
rs1249297013 CA354956054	370	D>V		No	ClinGen gnomAD
CA354956065 rs1481384803	370	D>Y		No	ClinGen gnomAD
rs1234785073 TCGA novel CA354955149	372	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
rs578028416 COSM1162196 CA2665135	374	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA2665134 rs747343551	374	R>H		No	ClinGen ExAC TOPMed gnomAD
CA354955133 rs578028416	374	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1320371720 CA354955100	376	K>R		No	ClinGen gnomAD
rs1424996771 CA354955085	377	T>A		No	ClinGen TOPMed
CA354955073 rs1380983435	377	T>I		No	ClinGen gnomAD
TCGA novel	377	T>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	378	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772349194 CA2665132	379	S>Y		No	ClinGen ExAC gnomAD
CA354955030 CA354955031 rs557979825	380	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746332306 CA2665131	380	Y>C		No	ClinGen ExAC gnomAD
CA354954959 rs1171429668	383	S>P		No	ClinGen gnomAD
TCGA novel	383	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777951014 CA2665127	384	V>E		No	ClinGen ExAC gnomAD
rs374414297 COSM3846502 CA2665128	384	V>L	breast [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA354954950 rs374414297	384	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs370382166 CA2665125	385	D>G		No	ClinGen ESP ExAC gnomAD
rs756368694 CA2665126	385	D>N		No	ClinGen ExAC gnomAD
TCGA novel	387	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	389	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1262453091 CA354954831	391	I>M		No	ClinGen gnomAD
CA85676984 rs1038318712	391	I>T		No	ClinGen TOPMed
CA354954818 rs1161812571	393	D>G		No	ClinGen TOPMed
TCGA novel	394	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780983077 CA2665123	394	D>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	394	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754732866 CA2665122	395	I>V		No	ClinGen ExAC gnomAD
TCGA novel	398	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762660621 CA2665120	399	F>S		No	ClinGen ExAC gnomAD
CA354954768 rs1271952128	400	Q>R		No	ClinGen gnomAD
TCGA novel	400	Q>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2665119 COSM3719648 rs762527505	403	N>K	Variant assessed as Somatic; 4.666e-05 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA2665118 rs749990583	404	S>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	404	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2665116 rs376065474	405	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs950690492 CA85676952	405	N>S		No	ClinGen TOPMed gnomAD
rs950690492 CA354954735	405	N>T		No	ClinGen TOPMed gnomAD
rs1228837557 CA354954720	407	S>A		No	ClinGen TOPMed
rs1419820501 CA354954671	414	R>Q		No	ClinGen TOPMed gnomAD
CA2665112 rs759886862	414	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	416	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771477819 CA2665110	417	C>Y		No	ClinGen ExAC gnomAD
rs781452740 CA2665085	420	V>F		No	ClinGen ExAC TOPMed gnomAD
CA354954254 rs1273848454	423	N>I		No	ClinGen gnomAD
CA354954229 rs768798506	425	L>H		No	ClinGen ExAC TOPMed gnomAD
rs768798506 CA2665084	425	L>R		No	ClinGen ExAC TOPMed gnomAD
CA2665083 rs73003074	426	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA354954190 rs779941644	429	H>N		No	ClinGen ExAC gnomAD
rs562643112 CA2665081	429	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779941644 CA2665082	429	H>Y		No	ClinGen ExAC gnomAD
CA354954170 rs1205364456	430	Y>*		No	ClinGen gnomAD
rs1478120088 CA354954174	430	Y>C		No	ClinGen TOPMed
rs1559912311 CA354954168	431	K>E		No	ClinGen Ensembl
CA354954153 rs1188182857	432	H>R		No	ClinGen TOPMed
rs11919896 VAR_032894 CA2665080	433	G>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA354954141 rs1444064154	434	S>G		No	ClinGen gnomAD
CA85674177 rs948670445	439	S>P		No	ClinGen Ensembl
CA354954059 rs1164795342	441	P>L		No	ClinGen TOPMed
CA85674135 rs753339778	442	D>E		No	ClinGen ExAC TOPMed gnomAD
rs148599589 CA2665078	442	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755682421 CA2665075	443	G>A		No	ClinGen ExAC gnomAD
rs763772352 CA2665076	443	G>R		No	ClinGen ExAC gnomAD
CA354954042 rs755682421	443	G>V		No	ClinGen ExAC gnomAD
rs573779176 CA2665072	444	T>K		No	ClinGen 1000Genomes ExAC gnomAD
rs766662670 CA2665073	444	T>S		No	ClinGen ExAC gnomAD
rs373107226 CA2665071	445	T>A		No	ClinGen ESP ExAC TOPMed
CA2665070 rs748873285	446	Q>*		No	ClinGen ExAC gnomAD
CA85674105 rs748873285	446	Q>K		No	ClinGen ExAC gnomAD
CA85674084 rs903159409	447	I>V		No	ClinGen TOPMed
rs761919387 CA2665069	448	F>L		No	ClinGen ExAC gnomAD
rs776530429 CA2665068	448	F>S		No	ClinGen ExAC gnomAD
rs761919387 CA354953999	448	F>V		No	ClinGen ExAC gnomAD
CA2665052 rs765662643	451	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1395902447 CA354953657	451	S>P		No	ClinGen gnomAD
rs777204422 CA2665050	454	L>I		No	ClinGen ExAC TOPMed gnomAD
rs1240918830 CA354953634	455	A>D		No	ClinGen gnomAD
rs13064394 CA2665048	455	A>P		No	ClinGen ExAC gnomAD
CA85671625 rs13064394	455	A>S		No	ClinGen ExAC gnomAD
CA354953635 rs13064394	455	A>T		No	ClinGen ExAC gnomAD
CA2665046 rs201176430	458	R>*		No	ClinGen 1000Genomes ExAC
COSM1039876 CA2665044 rs143964947	458	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs773979173 CA2665043	460	P>S		No	ClinGen ExAC gnomAD
rs773979173 CA85671605	460	P>T		No	ClinGen ExAC gnomAD
CA2665041 CA2665042 rs115739010	461	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777833032 CA354953591	462	K>N		No	ClinGen ExAC TOPMed
rs769280027 CA2665039	463	V>A		No	ClinGen ExAC gnomAD
CA354953576 rs780791444	465	G>C		No	ClinGen ExAC gnomAD
CA2665037 rs780791444	465	G>S		No	ClinGen ExAC gnomAD
rs374844031 CA85671565	467	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs754582814 CA2665036	467	T>I		No	ClinGen ExAC gnomAD
rs1399156131 CA354953551	469	I>V		No	ClinGen gnomAD
rs1385924179 CA354953545 COSM1419903	470	V>I	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA354953537 rs1375760377	471	Q>E		No	ClinGen gnomAD
CA354953503 rs1457072853	473	D>G		No	ClinGen TOPMed
CA2665034 rs779084613	473	D>H		No	ClinGen ExAC gnomAD
CA2665032 rs200581445	475	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1171201569 CA354953447	478	P>A		No	ClinGen gnomAD
CA354953443 rs1446438134	478	P>L		No	ClinGen TOPMed
rs1283737155 CA354953439	479	A>S		No	ClinGen TOPMed
TCGA novel	479	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1422105376 CA354953378	484	L>P		No	ClinGen gnomAD
CA354953374 rs1576547929	485	D>Y		No	ClinGen Ensembl
CA354953353 rs1193492890	486	S>Y		No	ClinGen gnomAD
CA2665030 rs374852781	487	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA354953340 rs1259988575	487	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2665029 rs760818240	490	S>G		No	ClinGen ExAC gnomAD
CA354953307 rs1482052536	490	S>T		No	ClinGen TOPMed gnomAD
rs1255099858 CA354953291	491	S>F		No	ClinGen gnomAD
rs767738267 CA2665027	492	C>F		No	ClinGen ExAC gnomAD
CA2665028 rs199684997	492	C>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2665026 rs534216030 COSM320268	493	Y>C	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1049393562 CA85671524	494	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1448734941 CA354953255	495	P>T		No	ClinGen TOPMed
CA354953243 rs1217889695	496	N>H		No	ClinGen gnomAD
rs149475266 CA2665025	496	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2665024 rs779408210	497	G>*		No	ClinGen ExAC TOPMed gnomAD
rs1394126614 CA354953225	497	G>E		No	ClinGen gnomAD
TCGA novel	499	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773001250 CA2665023	499	V>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA354953206 rs773001250	499	V>I		No	ClinGen ExAC gnomAD
rs773001250 CA2665022	499	V>L		No	ClinGen ExAC gnomAD
rs138143583 CA2665005	500	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA2665004 rs79104645	501	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	502	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2665003 rs769595863	503	I>V		No	ClinGen ExAC gnomAD
rs1471003796 CA354952722	504	N>S		No	ClinGen TOPMed gnomAD
TCGA novel	506	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA85670271 rs747841256	510	Y>*		No	ClinGen Ensembl
CA85670266 rs936994555	513	Q>H		No	ClinGen TOPMed gnomAD
CA354952649 rs1268848623	515	G>R		No	ClinGen TOPMed gnomAD
CA354952650 rs1268848623	515	G>S		No	ClinGen TOPMed gnomAD
CA354952645 rs1207929799	515	G>V		No	ClinGen gnomAD
rs1326152397 CA354952644	516	N>H		No	ClinGen TOPMed
rs1355584346 CA354952640	516	N>S		No	ClinGen TOPMed gnomAD
rs1351752369 CA354952611	520	A>G		No	ClinGen gnomAD
rs1240966345 CA354952615	520	A>T		No	ClinGen gnomAD
CA85670247 rs267599647 COSM36580	521	W>*	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA354952588 rs1559909623	523	W>L		No	ClinGen Ensembl
CA85670242 rs113861391	524	S>P		No	ClinGen Ensembl
rs1441723913 CA354952562	527	I>T		No	ClinGen gnomAD
rs746591761 CA2664999	527	I>V		No	ClinGen ExAC gnomAD
CA85670241 rs920257669	530	S>L		No	ClinGen TOPMed
CA354952524 rs1373195780	533	V>A		No	ClinGen gnomAD
rs774987695 CA2664998	534	S>A		No	ClinGen ExAC gnomAD
rs1386652297 CA354952513	535	F>S		No	ClinGen gnomAD
CA2664997 rs771799576	537	P>S		No	ClinGen ExAC gnomAD
CA2664996 rs372213685	540	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA354952478 rs748598903	541	A>P		No	ClinGen ExAC gnomAD
rs748598903 CA2664992	541	A>T		No	ClinGen ExAC gnomAD
rs781781666 CA2664991	542	L>S		No	ClinGen ExAC TOPMed gnomAD
CA85670187 rs142941844	543	N>S		No	ClinGen ESP TOPMed gnomAD
rs373184930 CA2664990	544	R>C		No	ClinGen ExAC TOPMed gnomAD
rs373184930 CA2664989	544	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2664988 rs138919004 COSM236099	544	R>H	Variant assessed as Somatic; 0.0 impact. autonomic_ganglia haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs373184930 COSM728750 CA354952460	544	R>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1254302345 CA354952456	545	Y>H		No	ClinGen TOPMed gnomAD
rs758596449 CA2664987	546	I>V		No	ClinGen ExAC gnomAD
rs150155678 CA2664986	547	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA354952432 rs1487223525	548	V>D		No	ClinGen TOPMed gnomAD
rs114572143 CA2664984	549	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2664983 rs199929972	549	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354952416 rs199929972	549	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA85670168 rs114572143	549	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA85670163 rs148079036	550	I>L		No	ClinGen ESP TOPMed gnomAD
CA85670160 rs530849908	550	I>T		No	ClinGen Ensembl
CA354952412 rs148079036	550	I>V		No	ClinGen ESP TOPMed gnomAD
TCGA novel	551	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764071357 CA2664982	552	E>Q		No	ClinGen ExAC gnomAD
rs143717273 CA2664979 CA2664980	555	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2664981 rs760076837	555	K>R		No	ClinGen ExAC gnomAD
rs140595078 CA2664978	558	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1360227249 CA354952286	559	T>I		No	ClinGen gnomAD
CA354952288 rs1360227249	559	T>S		No	ClinGen gnomAD
CA2664977 rs774153717	561	L>P		No	ClinGen ExAC gnomAD
rs770279340 CA2664976	562	A>S		No	ClinGen ExAC TOPMed gnomAD
rs770279340 CA354952264	562	A>T		No	ClinGen ExAC TOPMed gnomAD
CA354952242 COSM1693587 rs1224869992	563	M>I	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
TCGA novel	564	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354952229 rs1170273150	564	G>D		No	ClinGen gnomAD
CA354952235 rs1403955832	564	G>R		No	ClinGen gnomAD
CA2664974 rs199602127	565	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
rs1331790794 CA354952217	565	Q>R		No	ClinGen gnomAD
rs1195667751 CA354952206	566	Q>*		No	ClinGen TOPMed gnomAD
rs1211366577 CA354952171	568	R>S		No	ClinGen gnomAD
rs1262137082 CA354952175	568	R>T		No	ClinGen gnomAD
rs924327465 CA85670094	570	S>G		No	ClinGen Ensembl
TCGA novel	570	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2664973 rs748697448	571	V>A		No	ClinGen ExAC gnomAD
rs1276848949 CA354952121	573	T>I		No	ClinGen gnomAD
rs1041787424 CA85670080	575	V>G		No	ClinGen TOPMed gnomAD
rs1332750294 CA354951644	577	L>P		No	ClinGen gnomAD
CA354951639 rs1444016910	578	P>S		No	ClinGen gnomAD
rs762725398 CA2664956	579	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1576543582 CA354951632	579	N>T		No	ClinGen Ensembl
rs1165480628 CA354951622	581	E>K		No	ClinGen gnomAD
rs1272096219 CA354951612	582	E>K		No	ClinGen TOPMed
CA2664954 rs573956581	583	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	586	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2664952 rs370274830	587	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1642131 CA85665637 rs964055410	587	R>Q	Variant assessed as Somatic; 0.0 impact. stomach [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs146862720 CA85665635	588	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA2664951 rs201669374	588	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs1445975990 CA354951577	588	Y>H		No	ClinGen TOPMed
CA2664948 rs757432539	589	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2664949 rs757432539	589	V>L		No	ClinGen ExAC TOPMed gnomAD
CA354951564 rs1418770929	590	S>T		No	ClinGen TOPMed
CA2664947 rs754085799	591	G>E		No	ClinGen ExAC gnomAD
rs1247965774 CA354951547	593	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs755866281 CA2664945	594	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA354951520 rs1311091059	597	L>P		No	ClinGen gnomAD
rs1194455365 CA354951511	599	S>G		No	ClinGen TOPMed gnomAD
CA2664944 rs752675931	600	L>F		No	ClinGen ExAC TOPMed gnomAD
rs759085313 CA2664942	601	I>M		No	ClinGen ExAC gnomAD
CA2664943 rs767414222	601	I>V		No	ClinGen ExAC gnomAD
CA2664940 rs537767158	603	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs373884223 CA2664939	604	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs34137455 VAR_062240 COSM3781102 CA2664938	604	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2664937 rs370477652	605	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA85665479 rs200586444	605	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA85665484 rs200586444	605	R>L		No	ClinGen TOPMed gnomAD
CA354951466 rs1395712025	607	F>L		No	ClinGen gnomAD
CA354951446 rs1193020305	609	K>T		No	ClinGen gnomAD
CA354951434 rs1355923398	611	E>V		No	ClinGen TOPMed
CA354951429 rs1254468070	612	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs867921730 CA85665471	613	C>F		No	ClinGen gnomAD
rs1487771440 CA354951421	613	C>G		No	ClinGen gnomAD
rs1487771440 CA354951422	613	C>R		No	ClinGen gnomAD
rs1216954603 CA354951414	614	V>M		No	ClinGen gnomAD
rs1258643092 CA354951407	615	N>T		No	ClinGen TOPMed
rs1205240633 CA354951390	617	P>L		No	ClinGen TOPMed
rs761000346 CA2664935	617	P>S		No	ClinGen ExAC gnomAD
CA2664933 rs538734191	619	S>G		No	ClinGen 1000Genomes ExAC gnomAD
CA354951357 rs1301324535	622	W>*		No	ClinGen gnomAD
rs1365391243 CA354951319	627	Q>*		No	ClinGen TOPMed gnomAD
CA2664931 rs746408431	628	P>L		No	ClinGen ExAC
rs1274252462 CA354951313	628	P>T		No	ClinGen gnomAD
CA354951305 rs1559906895	629	S>F		No	ClinGen Ensembl
rs778920165 CA2664929	630	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	632	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs141939387 CA2664928	634	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA354951273 rs1419283283	634	L>R		No	ClinGen TOPMed gnomAD
CA2664927 rs749446499	637	K>T		No	ClinGen ExAC
CA354951236 rs1178295769	641	L>F		No	ClinGen gnomAD
CA2664926 rs756422560	642	C>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	645	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2664925 rs755925643	646	G>D		No	ClinGen ExAC gnomAD
CA354951195 rs1187557888	647	I>V		No	ClinGen gnomAD
CA354951162 rs781071028	651	I>K		No	ClinGen ExAC TOPMed gnomAD
CA2664923 rs781071028	651	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1338535167 CA354951153	652	M>I		No	ClinGen gnomAD
rs1432774838 CA354951156	652	M>K		No	ClinGen gnomAD
CA2664922 rs754912907	653	K>R		No	ClinGen ExAC gnomAD
rs751555079 CA2664921	654	T>A		No	ClinGen ExAC gnomAD
CA354951141 rs1396317705	654	T>K		No	ClinGen gnomAD
rs1376900813 CA354951135	655	I>K		No	ClinGen gnomAD
rs1487746424 CA354951131	656	R>G		No	ClinGen gnomAD
rs375788396 CA85665280	659	I>K		No	ClinGen ExAC TOPMed gnomAD
CA354951105 rs145408985	659	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375788396 CA2664919	659	I>T		No	ClinGen ExAC TOPMed gnomAD
CA2664916 rs199868192	661	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA2664917 rs750072815	661	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1342321633 CA354951083	662	E>D		No	ClinGen gnomAD
TCGA novel	663	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2664915 rs761066945	663	I>N		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q7L0X2

1 regional properties for Q7L0X2

Type	Name	Position	InterPro Accession
domain	AP2/ERF domain	49 - 112	IPR001471

Functions

		Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

No GO annotations of cellular component

Name	Definition
No GO annotations for cellular component

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5W0A0	ERICH6B	Glutamate-rich protein 6B	Homo sapiens (Human)	PR
Q5XI56	Erich6	Glutamate-rich protein 6	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MAHLRSPSGF	GDPGKKDQKE	SEEELEEEEE	EEEVEEEEEE	VEEEEEEVEE	EEEEVVEEEL
70	80	90	100	110	120
VGEEQELEAP	ETFSEEYLWK	VTDIGDYDDD	FPDVRPRLAS	IVSPSLTSTF	VPSQSATSTE
130	140	150	160	170	180
TPSASPPSST	SSHKSFPKIF	QTFRKDMSEM	SIDRNIHRNL	SPGIPVSVQT	EESWLQDLSD
190	200	210	220	230	240
KVQSRKKASK	EKAEPECLAS	KLREKWVINP	EESKLNILYE	LEFKEDFITL	FEPSLRTLPS
250	260	270	280	290	300
IGPPSILAYK	EESSNLGINF	KDEEEETSPK	CEFCGSDLRA	FFSNVDVSSE	PKGHASCCIA
310	320	330	340	350	360
FQNLIDYIYE	EQIKTKPPKA	ELIAIDPHAA	HGSEVDRLKA	KEKALQRKQE	QRMARHFAII
370	380	390	400	410	420
SREQTHFSED	DSKRLKTISY	QLSVDIPEKQ	IIDDIVFDFQ	LRNSNMSIIC	CDSRIACGKV
430	440	450	460	470	480
VRNELLEKHY	KHGSKFLTSF	PDGTTQIFYP	SGNLAIIRVP	NKVNGFTCIV	QEDMPTNPAI
490	500	510	520	530	540
LAVLDSSGRS	SCYHPNGNVW	VYINILGGQY	SDQAGNRIRA	WNWSNSITSS	PFVSFKPVFL
550	560	570	580	590	600
ALNRYIGVRI	LEQDKISITF	LAMGQQARIS	VGTKVKLPNP	EEIPILRYVS	GDDLLLLASL
610	620	630	640	650	660
IKIRRLFHKL	EGCVNFPSSQ	VWEKLKQPSY	LSSLSLKLIA	LCHSSGIKQD	IMKTIRNIIN

EEI