AiPD: Autoinhibited Protein Database

O75113

Gene name	N4BP1
Protein name	NEDD4-binding protein 1
Names	N4BP1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9683
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

197-334 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

197-334 (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

2 structures for O75113

Entry ID	Method	Resolution	Chain	Position	Source
6Q3V	X-ray	188 A	A	8-193	PDB
AF-O75113-F1	Predicted				AlphaFoldDB

617 variants for O75113

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs369325022 CA280843166	3	A>S		No	ClinGen Ensembl
CA280843162 rs1022341121	5	A>E		No	ClinGen TOPMed
CA396104364 rs1405002788	6	V>L		No	ClinGen TOPMed
rs748471422 CA8045683	9	E>*		No	ClinGen ExAC gnomAD
CA396104338 rs1345563321	10	F>I		No	ClinGen TOPMed
CA396104330 rs1458658457	11	T>S		No	ClinGen TOPMed
rs1185835044 CA396104319	12	A>V		No	ClinGen gnomAD
rs1447981935 CA396104311	14	A>P		No	ClinGen TOPMed gnomAD
rs1447981935 CA396104312	14	A>S		No	ClinGen TOPMed gnomAD
CA396104307 rs1452683603	14	A>V		No	ClinGen TOPMed
CA8045681 rs548468094	17	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396104284 rs1265334921	18	E>Q		No	ClinGen gnomAD
rs1292350035 CA396104255	22	Q>R		No	ClinGen gnomAD
CA8045680 rs749479818	24	R>C		No	ClinGen ExAC gnomAD
CA396104243 rs749479818	24	R>G		No	ClinGen ExAC gnomAD
rs1227356455 CA396104239	24	R>L		No	ClinGen TOPMed
rs1269287068 CA396104230	26	R>C		No	ClinGen TOPMed gnomAD
CA396104231 rs1269287068	26	R>G		No	ClinGen TOPMed gnomAD
CA396104228 rs1354568291	26	R>H		No	ClinGen gnomAD
CA396104220 rs1327720608	27	I>M		No	ClinGen gnomAD
CA396104218 rs1288241591	28	E>Q		No	ClinGen gnomAD
rs1207235370 CA396104214	28	E>V		No	ClinGen TOPMed
CA396104208 rs1321044545	29	G>D		No	ClinGen gnomAD
rs1226891057 CA396104192	32	G>S		No	ClinGen gnomAD
CA396104184 rs1366749057	33	V>L		No	ClinGen gnomAD
rs1567450989 CA396104162	36	A>V		No	ClinGen Ensembl
CA280843153 rs1010002326 CA396104160	37	V>L		No	ClinGen TOPMed gnomAD
CA396104161 rs1010002326	37	V>M		No	ClinGen TOPMed gnomAD
rs750528237 CA8045677	38	L>F		No	ClinGen ExAC gnomAD
CA396104154 rs1177989820	38	L>H		No	ClinGen TOPMed
rs956664144 CA280843150	39	G>V		No	ClinGen TOPMed
CA396104144 rs1387758941	40	A>S		No	ClinGen TOPMed
rs1029948929 CA280843148	40	A>V		No	ClinGen TOPMed gnomAD
rs1597119013 CA396104140	41	L>P		No	ClinGen Ensembl
rs781336115 CA8045676	41	L>V		No	ClinGen ExAC TOPMed gnomAD
CA396104134 rs1446728552	42	G>E		No	ClinGen TOPMed
rs1198281268 CA396104131	43	A>T		No	ClinGen TOPMed gnomAD
rs1490518679 CA396104107	46	P>A		No	ClinGen TOPMed gnomAD
rs1269532187 CA396104105	46	P>R		No	ClinGen gnomAD
rs1490518679 CA396104109	46	P>S		No	ClinGen TOPMed gnomAD
rs1481976804 CA396104089	49	A>E		No	ClinGen TOPMed gnomAD
CA396104087 rs1481976804	49	A>V		No	ClinGen TOPMed gnomAD
rs1214898161 CA396104085	50	R>G		No	ClinGen gnomAD
CA396104083 rs1341064117	50	R>H		No	ClinGen gnomAD
CA396104078 rs1272657664	51	I>F		No	ClinGen gnomAD
CA8045673 rs763900128	54	Q>*		No	ClinGen ExAC gnomAD
CA8045672 rs762632574	55	L>P		No	ClinGen ExAC TOPMed
CA396104031 rs1410916859	58	A>S		No	ClinGen TOPMed
rs1354360886 CA396104028	58	A>V		No	ClinGen gnomAD
CA396104023 rs1005678486	59	Q>L		No	ClinGen TOPMed gnomAD
rs1005678486 CA280843140	59	Q>R		No	ClinGen TOPMed gnomAD
rs1411956500 CA396104016	60	E>G		No	ClinGen gnomAD
CA396104009 rs1423344551	61	A>E		No	ClinGen gnomAD
CA396104007 rs1423344551	61	A>V		No	ClinGen gnomAD
rs888210564 CA280843137	62	V>A		No	ClinGen TOPMed gnomAD
rs1422991574 CA396103999	63	H>Y		No	ClinGen TOPMed
rs757164355 CA8045658	69	I>V		No	ClinGen ExAC gnomAD
rs1295484146 CA395834280	72	I>T		No	ClinGen TOPMed
CA8045657 rs747015832	79	E>K		No	ClinGen ExAC TOPMed gnomAD
rs370038322 CA8045656	82	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs758278743 CA8045655	85	K>R		No	ClinGen ExAC gnomAD
CA8045654 rs752473927	88	H>R		No	ClinGen ExAC gnomAD
CA8045653 rs377202105	89	C>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA395834156 rs1288937772	89	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	91	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395834136 rs1206284734	92	V>I		No	ClinGen gnomAD
CA8045650 rs201703173	96	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1210587763 CA395834089	99	L>Q		No	ClinGen TOPMed
rs367661981 CA8045648	99	L>V		No	ClinGen ESP ExAC gnomAD
CA395834055 rs1453786054	104	Q>E		No	ClinGen gnomAD
CA280301284 rs903888380	104	Q>R		No	ClinGen TOPMed
CA395834047 rs1385271601	105	D>N		No	ClinGen gnomAD
CA8045646 rs538474015	105	D>V		No	ClinGen ExAC TOPMed gnomAD
CA395834048 rs1385271601	105	D>Y		No	ClinGen gnomAD
CA395834010 rs1453220663	110	L>P		No	ClinGen gnomAD
CA395834004 rs1316503743	111	C>S		No	ClinGen gnomAD
TCGA novel	112	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395833977 rs1159795267	115	I>T		No	ClinGen gnomAD
rs1054757941 CA280301272	115	I>V		No	ClinGen Ensembl
rs746036741 CA8045643	117	L>R		No	ClinGen ExAC gnomAD
rs1162727867 CA395833927	123	S>N		No	ClinGen TOPMed gnomAD
CA395833918 rs1389917878	124	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8045642 rs776693840	127	V>A		No	ClinGen ExAC gnomAD
TCGA novel	127	V>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1043807937 CA280301255	129	M>T		No	ClinGen TOPMed
rs1453406876 CA395833884	130	A>T		No	ClinGen TOPMed
rs747054853 CA8045640	131	R>K		No	ClinGen ExAC gnomAD
CA395833865 rs1597096918	132	S>R		No	ClinGen Ensembl
CA395833833 rs1244409975	137	F>L		No	ClinGen TOPMed
CA8045638 rs758270673	139	K>N		No	ClinGen ExAC gnomAD
CA280301215 rs935938316	144	K>E		No	ClinGen Ensembl
CA8045637 rs747939394	145	E>G		No	ClinGen ExAC gnomAD
rs1247192852 CA395833751	148	P>R		No	ClinGen gnomAD
rs1295761497 CA395833748	149	S>G		No	ClinGen gnomAD
CA8045635 rs373573772	149	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8045634 rs367970276	150	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA8045633 rs765920247	151	Q>E		No	ClinGen ExAC gnomAD
rs755720455 CA8045632	154	S>A		No	ClinGen ExAC gnomAD
rs1425124427 CA395833694	156	V>A		No	ClinGen gnomAD
TCGA novel	160	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776029428 CA8045628	161	K>R		No	ClinGen ExAC TOPMed gnomAD
rs776029428 CA395833659	161	K>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	163	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1187770774 CA395833638	164	V>I		No	ClinGen gnomAD
rs759947250 CA8045626	168	A>E		No	ClinGen ExAC TOPMed gnomAD
CA8045624 rs771044794	170	N>S		No	ClinGen ExAC TOPMed gnomAD
CA395833577 rs1473744113	173	M>V		No	ClinGen TOPMed
TCGA novel	174	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1411824911 CA395833511	182	L>W		No	ClinGen TOPMed
CA8045621 rs772025469	185	E>*		No	ClinGen ExAC gnomAD
TCGA novel	185	E>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778802065 CA395833478	187	L>M		No	ClinGen ExAC TOPMed gnomAD
rs749035787 CA8045617	191	Q>H		No	ClinGen ExAC gnomAD
rs768484205 CA8045618	191	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs755665625 CA8045615	194	E>D		No	ClinGen ExAC gnomAD
CA8045614 rs780810678	195	N>S		No	ClinGen ExAC TOPMed gnomAD
rs780810678 CA8045613	195	N>T		No	ClinGen ExAC TOPMed gnomAD
rs563300953 CA8045611	196	L>R		No	ClinGen 1000Genomes ExAC gnomAD
CA280301003 rs571191958	200	G>R		No	ClinGen Ensembl
rs753294489 CA8045610	201	D>N		No	ClinGen ExAC gnomAD
rs1479209435 CA395833379	202	D>Y		No	ClinGen gnomAD
rs370683551 CA8045609	203	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA8045608 rs760035444	204	V>F		No	ClinGen ExAC gnomAD
CA395833362 rs1248982574	204	V>G		No	ClinGen gnomAD
rs974696338 CA280300986	205	I>T		No	ClinGen Ensembl
TCGA novel	205	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754090712 CA8045607	206	E>D		No	ClinGen ExAC gnomAD
CA395833343 rs1481129566	207	M>R		No	ClinGen gnomAD
CA395833339 rs1567432054	208	R>G		No	ClinGen Ensembl
rs766624682 CA8045606	210	S>F		No	ClinGen ExAC gnomAD
CA395833311 rs1322964128	212	Q>K		No	ClinGen gnomAD
CA8045604 rs773360459	212	Q>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	213	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395833288 rs1347329574	215	F>V		No	ClinGen gnomAD
CA8045602 rs761853391	217	Q>H		No	ClinGen ExAC gnomAD
CA8045603 rs751964629	217	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1189359354 CA395833264	218	N>K		No	ClinGen gnomAD
rs774343431 CA8045601	219	A>P		No	ClinGen ExAC gnomAD
rs79987532 CA8045600	220	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA395833253 rs79987532	220	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1176562911 CA395833231	224	N>S		No	ClinGen gnomAD
CA8045597 rs762654267	226	S>C		No	ClinGen ExAC TOPMed gnomAD
CA280300920 rs909568023	227	R>G		No	ClinGen TOPMed gnomAD
CA8045596 rs769519588	228	D>G		No	ClinGen ExAC gnomAD
CA395833198 rs1420121355	229	E>G		No	ClinGen gnomAD
rs982534478 CA280300914	231	V>I		No	ClinGen TOPMed
TCGA novel	233	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1251619387 CA395833171	233	Q>L		No	ClinGen TOPMed
rs1251619387 CA395833172	233	Q>R		No	ClinGen TOPMed
rs1434249655 CA395833164	234	E>A		No	ClinGen TOPMed
TCGA novel	235	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs982953063 CA280300912	236	A>S		No	ClinGen Ensembl
rs564038072 CA8045595	236	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8045594 rs780959827	237	R>G		No	ClinGen ExAC gnomAD
CA8045592 rs751101001	238	N>K		No	ClinGen ExAC gnomAD
CA8045593 rs756892350	238	N>S		No	ClinGen ExAC gnomAD
rs779575185 CA8045591	240	A>G		No	ClinGen ExAC gnomAD
CA8045590 rs374516858	241	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1450135720 CA395833107	243	P>L		No	ClinGen gnomAD
rs1308907621 CA395833110	243	P>S		No	ClinGen TOPMed gnomAD
CA395833091 rs1305942053	246	E>A		No	ClinGen TOPMed
rs1454168940 CA395833078	248	T>A		No	ClinGen TOPMed gnomAD
rs1382130699 CA395833041	253	T>S		No	ClinGen gnomAD
rs767725629 CA8045585	254	V>I		No	ClinGen ExAC TOPMed gnomAD
rs375706424 CA8045584	255	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs375706424 CA280300812	255	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs774357735 CA8045583	257	S>G		No	ClinGen ExAC gnomAD
CA8045582 rs768585096	258	S>L		No	ClinGen ExAC gnomAD
CA8045581 rs762761520	260	D>G		No	ClinGen ExAC gnomAD
rs775378344 CA8045580	261	V>A		No	ClinGen ExAC gnomAD
CA395832995 rs1411492247	261	V>M		No	ClinGen Ensembl
rs1329298741 CA395832986	262	L>P		No	ClinGen TOPMed
rs769515870 CA8045579	263	F>L		No	ClinGen ExAC gnomAD
rs772844228 CA280300770	265	P>A		No	ClinGen Ensembl
rs1231843229 CA395832961	266	I>T		No	ClinGen TOPMed
rs1219131740 COSM1159104 CA395832963	266	I>V	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1000641101 CA280300769	267	N>H		No	ClinGen gnomAD
CA395832941 rs1351349481	269	L>P		No	ClinGen TOPMed gnomAD
CA8045577 rs776483975	270	T>A		No	ClinGen ExAC TOPMed gnomAD
rs992290489 CA280300735	270	T>N		No	ClinGen TOPMed gnomAD
rs992290489 CA395832937	270	T>S		No	ClinGen TOPMed gnomAD
CA8045576 rs372532426	271	P>S		No	ClinGen ESP ExAC gnomAD
rs200690525 CA280300718	272	D>A		No	ClinGen gnomAD
rs1042052777 CA280300703	272	D>E		No	ClinGen Ensembl
rs200690525 CA395832927	272	D>G		No	ClinGen gnomAD
rs1246491639 CA395832918	273	E>D		No	ClinGen gnomAD
CA8045574 rs777374134	274	E>G		No	ClinGen ExAC gnomAD
COSM86414 CA8045575 rs746518116	274	E>Q	ovary [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1382236629 CA395832908	275	A>S		No	ClinGen gnomAD
rs1273467538 CA395832902	276	L>F		No	ClinGen TOPMed
CA395832894 rs1387799712	277	S>C		No	ClinGen gnomAD
rs1488975945 CA395832897	277	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1301825012 CA395832889	278	N>S		No	ClinGen gnomAD
rs201620094 CA8045573	280	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749805282 CA8045572	281	I>T		No	ClinGen ExAC gnomAD
CA8045571 rs200436019	282	C>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA280300663 rs890311199	287	F>Y		No	ClinGen Ensembl
rs1474562681 CA395832817	288	S>C		No	ClinGen gnomAD
rs868189349 CA280300650	288	S>P		No	ClinGen Ensembl
CA8045569 rs756504966	292	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1193997528 CA395832777	294	H>Y		No	ClinGen gnomAD
CA8045568 rs750778005	295	T>A		No	ClinGen ExAC gnomAD
rs767743824 CA8045567	295	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA395832745 rs1392167361	298	Q>H		No	ClinGen TOPMed
rs1356032414 CA395832747	298	Q>R		No	ClinGen gnomAD
TCGA novel	299	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8045565 rs751670285	300	S>P		No	ClinGen ExAC gnomAD
rs764033856 CA8045564	304	V>A		No	ClinGen ExAC gnomAD
CA395832701 rs1428061183	305	Q>E		No	ClinGen TOPMed
rs376445814 CA8045562	305	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA395832690 rs759263199	306	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8045561 rs765206119 COSM1216561	306	E>G	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs776502147 CA8045559	307	G>E		No	ClinGen ExAC gnomAD
rs374281631 CA280300560	307	G>W		No	ClinGen Ensembl
CA8045558 rs770735248	308	E>*		No	ClinGen ExAC gnomAD
CA8045557 rs746607752	308	E>V		No	ClinGen ExAC gnomAD
rs1350699815 CA395832670	310	L>V		No	ClinGen TOPMed
rs373702319 CA8045555	312	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs377300415 CA8045553	313	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs747693106 CA8045554	313	A>T		No	ClinGen ExAC gnomAD
CA280300481 rs764718933	314	K>E		No	ClinGen TOPMed
rs1427249328 CA395832633	315	T>I		No	ClinGen gnomAD
TCGA novel	315	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781498181 CA8045550	317	A>S		No	ClinGen ExAC gnomAD
rs764371179 CA8045547	319	N>D		No	ClinGen ExAC TOPMed gnomAD
CA8045545 rs752763847	319	N>K		No	ClinGen ExAC
CA8045546 rs758464499	319	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8045544 rs759503293	321	I>K		No	ClinGen ExAC gnomAD
CA8045543 rs759503293	321	I>T		No	ClinGen ExAC gnomAD
CA280300427 rs200492810	321	I>V		No	ClinGen gnomAD
rs1294341873 CA395832579	325	S>P		No	ClinGen TOPMed
CA395832565 rs1567431738	327	S>P		No	ClinGen Ensembl
TCGA novel	327	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8045541 rs766323593	328	S>F		No	ClinGen ExAC TOPMed gnomAD
CA8045542 rs776586669	328	S>P		No	ClinGen ExAC gnomAD
CA8045540 rs760513551	329	A>S		No	ClinGen ExAC gnomAD
CA395832538 rs1335540247	331	S>F		No	ClinGen gnomAD
TCGA novel	332	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8045539 rs772809774	334	L>S		No	ClinGen ExAC gnomAD
rs771746235 CA8045538	335	S>N		No	ClinGen ExAC gnomAD
CA280300342 rs983009151	336	P>S		No	ClinGen Ensembl
rs1175832288 CA395832498	337	D>V		No	ClinGen TOPMed gnomAD
rs1470313633 CA395832493	338	I>V		No	ClinGen gnomAD
rs1429978559 CA395832468	341	T>S		No	ClinGen gnomAD
CA8045536 rs746933170	342	T>A		No	ClinGen ExAC TOPMed gnomAD
CA8045535 rs770235366	342	T>I		No	ClinGen ExAC gnomAD
rs746326634 CA8045534	345	M>L		No	ClinGen ExAC gnomAD
CA395832416 rs375906701	348	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA395832401 rs1202496952	351	V>I		No	ClinGen gnomAD
CA280300317 rs1039609903	353	F>V		No	ClinGen TOPMed
rs1323605305 CA395832355	357	M>T		No	ClinGen gnomAD
CA280300309 rs775473114	357	M>V		No	ClinGen Ensembl
rs777869490 CA8045530	361	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1350464100 CA395832312	363	I>S		No	ClinGen gnomAD
CA8045529 rs758578191	364	V>A		No	ClinGen ExAC
CA395832299 rs1280524473	365	E>G		No	ClinGen TOPMed gnomAD
rs752751073 CA8045528	366	K>E		No	ClinGen ExAC
CA8045527 rs778997251	367	V>G		No	ClinGen ExAC gnomAD
rs1166625416 CA395832288	367	V>I		No	ClinGen TOPMed
CA395832283 rs1308132098	368	I>L		No	ClinGen TOPMed gnomAD
rs753863624 CA8045525	370	V>L		No	ClinGen ExAC gnomAD
rs917419128 CA280300244	371	Y>C		No	ClinGen TOPMed gnomAD
CA8045524 rs766411853	372	G>R		No	ClinGen ExAC
rs760607771 CA8045523	373	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8045521 rs201253448	375	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA395832236 rs1407110638	375	T>I		No	ClinGen TOPMed gnomAD
CA395832237 COSM1258639 rs1407110638	375	T>S	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
TCGA novel	376	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1047178684 CA395832216	378	L>F		No	ClinGen TOPMed gnomAD
rs1240948982 CA395832213	379	L>V		No	ClinGen gnomAD
rs773756441 CA8045519	382	E>Q		No	ClinGen ExAC gnomAD
rs768206096 CA8045518	383	E>D		No	ClinGen ExAC gnomAD
rs762420428 CA8045517	384	I>T		No	ClinGen ExAC gnomAD
rs929689401 CA280300189	387	E>G		No	ClinGen TOPMed
TCGA novel	387	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777178441 CA8045516	391	F>C		No	ClinGen ExAC TOPMed gnomAD
rs1212970828 CA395832128	391	F>L		No	ClinGen gnomAD
rs777178441 CA395832125	391	F>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	391	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8045515 rs771369230	392	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8045514 rs747378708	395	R>G		No	ClinGen ExAC gnomAD
CA395832088 COSM971066 rs1229411447	396	E>G	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1357739463 CA395832061	400	G>D		No	ClinGen gnomAD
CA8045511 rs748447995	402	V>G		No	ClinGen ExAC TOPMed gnomAD
rs573971402 CA8045512	402	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs573971402 CA395832052	402	V>M		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	404	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8045509 rs755173536	406	T>A		No	ClinGen ExAC TOPMed gnomAD
rs755173536 CA395832025	406	T>S		No	ClinGen ExAC TOPMed gnomAD
rs375248922 CA8045508	407	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1484353784 CA395832017	407	N>S		No	ClinGen TOPMed
CA395831981 rs1162588466	412	K>T		No	ClinGen gnomAD
CA8045506 rs756053080	413	G>D		No	ClinGen ExAC gnomAD
rs1474728066 CA395831971	414	V>I		No	ClinGen TOPMed
CA8045504 rs761492532	415	Y>D		No	ClinGen ExAC gnomAD
rs761492532 CA8045503	415	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA280300078 rs372052207	416	S>R		No	ClinGen ESP TOPMed
CA8045502 rs751267480	417	S>R		No	ClinGen ExAC gnomAD
rs1455621420 CA395831940	418	T>I		No	ClinGen TOPMed
rs368364716 CA8045501	419	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8045500 rs762461289	421	L>F		No	ClinGen ExAC gnomAD
CA395831902 rs1449590931	424	D>V		No	ClinGen TOPMed
CA8045497 rs761195723	425	S>T		No	ClinGen ExAC gnomAD
CA8045496 rs773566179	426	T>P		No	ClinGen ExAC TOPMed gnomAD
rs967793901 CA280300001	427	P>L		No	ClinGen TOPMed gnomAD
CA395831878 rs1278811199	428	K>N		No	ClinGen gnomAD
rs772522903 CA8045495	430	T>R		No	ClinGen ExAC gnomAD
rs748454863 CA8045494	434	T>A		No	ClinGen ExAC gnomAD
rs748454863 CA395831841	434	T>P		No	ClinGen ExAC gnomAD
CA395831827 rs1458160210	436	Q>E		No	ClinGen gnomAD
CA395831806 CA280299955 rs1020163265	438	M>I		No	ClinGen TOPMed gnomAD
rs1421106117 CA395831808	438	M>T		No	ClinGen TOPMed gnomAD
CA280299960 rs926810213	438	M>V		No	ClinGen TOPMed gnomAD
rs768944213 CA8045492	441	K>E		No	ClinGen ExAC gnomAD
CA8045491 CA8045490 rs556981007	441	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA395831781 rs1423700152 COSM257482	442	F>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1195155665 CA395831771	444	Q>*		No	ClinGen gnomAD
rs777170154	444	Q>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1008838605 CA280299945	446	P>S		No	ClinGen gnomAD
rs745593084 CA280299941	448	K>E		No	ClinGen Ensembl
CA395831717 rs1208134722	452	K>E		No	ClinGen TOPMed
CA8045487 rs780962229	453	P>A		No	ClinGen ExAC gnomAD
CA8045486 rs780962229	453	P>S		No	ClinGen ExAC gnomAD
rs1249899396 CA395831704	454	C>R		No	ClinGen gnomAD
CA8045485 rs778155469	454	C>W		No	ClinGen ExAC TOPMed gnomAD
CA395831702 rs1204056031	454	C>Y		No	ClinGen gnomAD
CA395831693 rs1483757884	455	T>I		No	ClinGen gnomAD
CA395831682 rs1221716973	457	N>S		No	ClinGen gnomAD
rs1343566891 CA395831668	459	R>K		No	ClinGen TOPMed gnomAD
rs751253626 CA8045484	460	I>M		No	ClinGen ExAC TOPMed gnomAD
CA8045483 rs763739892	462	T>I		No	ClinGen ExAC gnomAD
rs1029743046 CA280299889	462	T>S		No	ClinGen TOPMed
CA395831639 rs1157860798	463	F>L		No	ClinGen TOPMed
COSM1189270 rs1425803921 CA395831633	464	R>I	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA8045481 rs758005215	464	R>S		No	ClinGen ExAC TOPMed gnomAD
CA8045480 rs752226610	468	I>V		No	ClinGen ExAC TOPMed gnomAD
CA395831601 rs1374447316	469	E>D		No	ClinGen TOPMed
CA395831578 rs1461196581	472	H>L		No	ClinGen gnomAD
rs1400527296 CA395831565	474	V>I		No	ClinGen gnomAD
rs996034486 CA280299837	475	W>C		No	ClinGen Ensembl
rs758933861 CA8045478	475	W>G		No	ClinGen ExAC gnomAD
rs1429277977 CA395831553	476	G>R		No	ClinGen TOPMed gnomAD
CA395831554 rs1429277977	476	G>S		No	ClinGen TOPMed gnomAD
rs773832503 CA8045477	477	S>T		No	ClinGen ExAC gnomAD
CA8045476 rs767895000	480	N>S		No	ClinGen ExAC TOPMed gnomAD
rs762254198 CA8045475	481	Y>F		No	ClinGen ExAC
rs1248832948 CA395831519	481	Y>N		No	ClinGen gnomAD
rs371090316 CA8045474	482	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8045472 rs371090316	482	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	486	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8045469 rs749476691	486	D>Y		No	ClinGen ExAC gnomAD
TCGA novel	488	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs537036559 CA8045468	490	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA280299749 rs898912510	494	P>S		No	ClinGen Ensembl
CA8045467 rs769957961	495	S>F		No	ClinGen ExAC gnomAD
rs1322897125 CA395831416	497	A>T		No	ClinGen gnomAD
CA395831413 rs1207644403	497	A>V		No	ClinGen TOPMed
CA8045466 rs745933167	500	S>N		No	ClinGen ExAC TOPMed
CA395831383 rs1255384532	502	K>R		No	ClinGen gnomAD
TCGA novel	503	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395831379 rs1233857378	503	E>K		No	ClinGen gnomAD
TCGA novel	505	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395831361 rs1304645492	505	N>S		No	ClinGen gnomAD
CA8045464 rs757074482	512	S>L		No	ClinGen ExAC gnomAD
CA395831306 rs1310071052	513	S>R		No	ClinGen gnomAD
rs1449921616 CA395831293	515	Q>R		No	ClinGen gnomAD
rs1037889854 CA280299687	516	P>L		No	ClinGen TOPMed
CA280299698 rs1005434447	516	P>S		No	ClinGen TOPMed gnomAD
rs571576035 CA280299657	519	P>L		No	ClinGen 1000Genomes TOPMed
rs758166796 CA8045461	519	P>T		No	ClinGen ExAC gnomAD
rs1362525441 CA395831267	520	L>V		No	ClinGen gnomAD
CA280299656 rs940335018	523	E>*		No	ClinGen Ensembl
TCGA novel	523	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1158835111 CA395831238	524	N>S		No	ClinGen gnomAD
rs778531981 CA8045459	526	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1382457041 CA395831214	527	H>Q		No	ClinGen gnomAD
CA8045458 rs201358817	528	Q>K		No	ClinGen 1000Genomes ExAC TOPMed
rs753227329 CA8045457	528	Q>R		No	ClinGen ExAC gnomAD
rs768074629 CA8045456	532	P>S		No	ClinGen ExAC gnomAD
rs1368335869 CA395831175	533	L>F		No	ClinGen TOPMed
rs201705111 CA8045455	535	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764606022 CA8045453	536	N>S		No	ClinGen ExAC gnomAD
TCGA novel	538	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395831147 rs200098399	538	M>L		No	ClinGen 1000Genomes ExAC TOPMed
rs775924891 CA8045451	538	M>T		No	ClinGen ExAC gnomAD
CA8045452 rs200098399	538	M>V		No	ClinGen 1000Genomes ExAC TOPMed
TCGA novel	539	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8045450 rs549178712	540	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA395831127 rs868677269	541	A>P		No	ClinGen gnomAD
CA280299604 rs868677269	541	A>S		No	ClinGen gnomAD
rs759663443 CA8045449	544	K>R		No	ClinGen ExAC
rs368563685 CA8045448	545	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8045446 rs374454235	545	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8045447 rs374454235	545	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1295617124 CA395831081	548	C>G		No	ClinGen TOPMed
rs184021900 CA8045443	549	C>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1056792613 CA280299578	549	C>R		No	ClinGen TOPMed gnomAD
rs184021900 CA395831073	549	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8045441 rs532795660	551	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8045442 rs532795660	551	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs781303949 CA8045440	552	P>S		No	ClinGen ExAC TOPMed
CA280299556 rs373692452	553	H>N		No	ClinGen ESP TOPMed gnomAD
rs377648598 CA8045439	553	H>R		No	ClinGen ESP ExAC
CA8045437 rs374064585	554	S>C		No	ClinGen ESP ExAC
rs1362825817 CA395831046	554	S>P		No	ClinGen gnomAD
CA8045436 rs752155881	557	N>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8045435 rs764697607	558	C>R		No	ClinGen ExAC gnomAD
CA395831013 rs1369208407	559	S>P		No	ClinGen gnomAD
rs200650848 CA8045434	560	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753055285 CA8045433	562	S>F		No	ClinGen ExAC gnomAD
rs1215770873 CA395830981	564	P>L		No	ClinGen gnomAD
rs765525051 CA8045432	564	P>S		No	ClinGen ExAC gnomAD
rs776887410 COSM971058 CA8045430	565	M>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1219926018 CA395830967	566	P>L		No	ClinGen gnomAD
rs1219926018 CA395830968	566	P>R		No	ClinGen gnomAD
TCGA novel	566	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8045429 rs368975224	567	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1246418033 CA395830957	568	P>L		No	ClinGen gnomAD
CA395830949 rs1324164950	569	Q>H		No	ClinGen gnomAD
rs1403957712 CA395830953	569	Q>P		No	ClinGen TOPMed
rs773190623 CA8045427	572	P>R		No	ClinGen ExAC TOPMed gnomAD
CA8045428 rs760739473	572	P>S		No	ClinGen ExAC gnomAD
rs540782433 CA8045425	573	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA8045426 rs771937642	573	S>T		No	ClinGen ExAC gnomAD
CA395830921 rs1391799731	575	T>A		No	ClinGen TOPMed gnomAD
rs201779428 CA8045424	575	T>S		No	ClinGen 1000Genomes ExAC TOPMed
CA280299404 rs375737753	576	D>E		No	ClinGen ESP TOPMed
CA395830917 rs1460565999	576	D>N		No	ClinGen gnomAD
rs1194413429 CA395830904	578	R>G		No	ClinGen gnomAD
CA280299380 rs976808760	578	R>K		No	ClinGen TOPMed gnomAD
rs748943460 CA8045422	579	S>L		No	ClinGen ExAC TOPMed gnomAD
CA395830878 rs1290226917	582	P>L		No	ClinGen gnomAD
CA8045419 rs201209953	583	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs755756184 CA8045420	583	S>T		No	ClinGen ExAC gnomAD
TCGA novel	584	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395830871 rs1272427199	584	D>N		No	ClinGen TOPMed
CA8045418 rs778439794	585	H>R		No	ClinGen ExAC gnomAD
CA8045417 rs375205611	586	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA280299332 rs367947146	586	I>V		No	ClinGen ESP TOPMed gnomAD
rs1436294971 CA395830847	587	D>A		No	ClinGen TOPMed gnomAD
rs1205224472 CA395830848	587	D>H		No	ClinGen TOPMed gnomAD
rs753125536 CA8045416	588	S>C		No	ClinGen ExAC gnomAD
rs753125536 CA395830838	588	S>F		No	ClinGen ExAC gnomAD
CA8045415 rs765566430	590	V>F		No	ClinGen ExAC gnomAD
CA395830812 rs1263353731	593	V>F		No	ClinGen TOPMed gnomAD
CA280299311 rs773639525	596	F>C		No	ClinGen Ensembl
rs755335517 CA8045414 COSM273563	597	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1567431070 CA395830775	598	D>E		No	ClinGen Ensembl
rs754074641 CA8045413	599	T>A		No	ClinGen ExAC gnomAD
rs766610191 CA8045412	599	T>S		No	ClinGen ExAC gnomAD
CA8045411 rs760755930	601	K>N		No	ClinGen ExAC gnomAD
rs767475965 CA8045409	602	I>M		No	ClinGen ExAC gnomAD
rs773207025 CA8045410	602	I>T		No	ClinGen ExAC gnomAD
TCGA novel	602	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA280299193 rs967382812	603	P>L		No	ClinGen gnomAD
CA8045407 rs774323575	604	Y>C		No	ClinGen ExAC gnomAD
CA8045408 rs542809110	604	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
rs768375626 CA8045406	605	K>Q		No	ClinGen ExAC gnomAD
CA8045405 rs374571601	609	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1567431035	610	N>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8045404 rs370537177	614	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs200353639 CA280299120	615	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs200353639 CA8045403	615	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs200353639 CA395830671	615	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1277003141 CA395830638	620	I>V		No	ClinGen gnomAD
rs748639228 CA8045400 CA395830626	622	I>L		No	ClinGen ExAC TOPMed gnomAD
rs748639228 CA8045399	622	I>V		No	ClinGen ExAC TOPMed gnomAD
CA395830610 rs1376455025	624	G>E		No	ClinGen gnomAD
CA8045397 rs755355322	629	I>V		No	ClinGen ExAC gnomAD
CA8045396 rs754172315	630	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	632	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM971054 rs776388321 CA8045381	636	F>L	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs770627131 CA8045380 COSM971054 CA280293563	636	F>L	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC gnomAD NCI-TCGA
rs1336087496 CA395829395	636	F>S		No	ClinGen gnomAD
COSM971052 CA395829337 rs1189665791	640	R>C	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA395829332 rs1278710284	640	R>H		No	ClinGen gnomAD
TCGA novel	641	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779299806 CA8045378	642	I>F		No	ClinGen ExAC
CA8045377 rs769139262	643	A>T		No	ClinGen ExAC TOPMed gnomAD
CA395829288 rs1432338879	644	I>V		No	ClinGen TOPMed
rs1384027196 CA395829254	646	V>A		No	ClinGen gnomAD
rs756450120 CA8045373	647	E>Q		No	ClinGen ExAC gnomAD
rs750684263 CA8045371	652	L>F		No	ClinGen ExAC gnomAD
CA395829182 rs1391867751	653	G>R		No	ClinGen TOPMed
CA8045370 rs781388174	656	N>S		No	ClinGen ExAC gnomAD
CA8045369 rs757343448	657	I>F		No	ClinGen ExAC gnomAD
rs199510508 CA8045368	658	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA8045364 rs377500906	668	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA280293482 rs973085558	668	R>H		No	ClinGen TOPMed gnomAD
TCGA novel	670	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759397187 CA8045363	672	V>I		No	ClinGen ExAC gnomAD
CA8045347 rs752744531	676	H>Y		No	ClinGen ExAC gnomAD
CA8045346 rs765249622	679	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1463402058 CA395828981	680	Q>H		No	ClinGen TOPMed
CA280291838 rs1017652860	681	L>V		No	ClinGen Ensembl
CA395828969 rs1188455677	682	Q>L		No	ClinGen Ensembl
rs753620752 CA8045344	684	L>V		No	ClinGen ExAC gnomAD
rs1394452448 CA395828946	686	I>V		No	ClinGen TOPMed
TCGA novel	691	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8045343 rs765977185	695	V>D		No	ClinGen ExAC gnomAD
rs1359894345 CA395828874	697	G>R		No	ClinGen TOPMed
rs1026204652 CA280291813	700	I>V		No	ClinGen TOPMed
rs760325019 CA8045342	703	H>R		No	ClinGen ExAC gnomAD
CA395828198 rs1458307727	708	L>P		No	ClinGen gnomAD
rs748177634 CA8045326	708	L>V		No	ClinGen ExAC gnomAD
COSM352003 CA8045322 rs766244485	712	A>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8045320 rs750158798	713	D>E		No	ClinGen ExAC gnomAD
rs144195793 CA8045319	716	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs144195793 CA8045318	716	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA395828138 rs1377137148	718	I>V		No	ClinGen gnomAD
CA280289233 rs149338916	720	V>L		No	ClinGen 1000Genomes
rs773787911 CA8045317	725	F>C		No	ClinGen ExAC gnomAD
TCGA novel	725	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760656911 CA280289217	730	N>I		No	ClinGen Ensembl
TCGA novel	730	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765768037 CA8045316	732	S>L		No	ClinGen ExAC gnomAD
rs1169865503 CA395828025	734	S>C		No	ClinGen TOPMed
CA8045315 rs759991200	738	I>V		No	ClinGen ExAC gnomAD
rs776970232 CA8045314	739	I>F		No	ClinGen ExAC gnomAD
CA395827988 rs1459650879	739	I>M		No	ClinGen TOPMed
CA395827990 rs1369063310	739	I>T		No	ClinGen TOPMed
rs776970232 CA395827992	739	I>V		No	ClinGen ExAC gnomAD
CA8045313 rs771390924	740	T>I		No	ClinGen ExAC gnomAD
CA8045311 rs773493128	741	K>N		No	ClinGen ExAC TOPMed gnomAD
rs747318507 CA8045312	741	K>Q		No	ClinGen ExAC gnomAD
CA8045287 rs768925721	746	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1481971178 CA395827928	747	T>R		No	ClinGen TOPMed
rs376326345 CA395827920	748	F>L		No	ClinGen ESP ExAC gnomAD
CA395827918 rs1269544715	749	V>M		No	ClinGen TOPMed
rs769553106 CA8045284	750	G>R		No	ClinGen ExAC
rs1278107646 CA395827891	753	F>L		No	ClinGen gnomAD
CA8045282 rs780805094	756	P>L		No	ClinGen ExAC gnomAD
rs756188975 CA8045280	757	D>N		No	ClinGen ExAC gnomAD
rs777388793 CA8045279	761	G>R		No	ClinGen ExAC gnomAD
CA8045278 rs757913128	763	S>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	766	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395827804 rs752687078	766	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8045277 rs752687078	766	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8045275 rs761037186	769	E>D		No	ClinGen ExAC gnomAD
CA8045276 rs766939547	769	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1169830035 CA395827772	771	L>F		No	ClinGen gnomAD
rs1409625854 CA395827752	774	E>K		No	ClinGen TOPMed
TCGA novel	779	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8045254 rs750957574	780	M>I		No	ClinGen ExAC gnomAD
CA395827173 rs1238273899	780	M>L		No	ClinGen gnomAD
rs371577144 CA8045255	780	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8045253 rs768125167	781	Q>K		No	ClinGen ExAC gnomAD
rs1597088266 CA395827164	781	Q>P		No	ClinGen Ensembl
rs762282239 CA8045252	782	P>S		No	ClinGen ExAC TOPMed gnomAD
CA280284969 rs1015131408	784	L>R		No	ClinGen gnomAD
rs751908308 CA8045251	785	S>G		No	ClinGen ExAC gnomAD
rs764444094 CA8045250	785	S>N		No	ClinGen ExAC gnomAD
CA395827118 rs1175239155	789	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA395827113 rs1417491290	790	V>M		No	ClinGen gnomAD
rs1567424083 CA395827105	791	G>C		No	ClinGen Ensembl
CA8045249 rs763040334	791	G>V		No	ClinGen ExAC gnomAD
CA395827094 rs1178779510	792	M>I		No	ClinGen gnomAD
rs1470879129 CA395827079	794	D>E		No	ClinGen TOPMed gnomAD
CA280284917 rs1010455229	795	P>L		No	ClinGen TOPMed
CA395827071 rs1236278165	796	S>G		No	ClinGen gnomAD
rs1443444017 CA395827050	798	R>S		No	ClinGen gnomAD
CA395827043 rs890299500	800	P>S		No	ClinGen TOPMed gnomAD
CA280284880 rs890299500	800	P>T		No	ClinGen TOPMed gnomAD
rs1597088218 CA395827032	802	T>P		No	ClinGen Ensembl
CA395827015 rs775762206	804	A>E		No	ClinGen ExAC TOPMed gnomAD
CA8045248 rs775762206	804	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1378614326 CA395827009	805	A>G		No	ClinGen TOPMed
rs375239847 COSM1318583 CA8045246	812	P>L	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA395826961 rs1286993054	812	P>S		No	ClinGen gnomAD
rs772941241 CA8045242	814	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8045241 rs148110587	814	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772941241 CA280284857	814	R>W		No	ClinGen ExAC TOPMed gnomAD
CA395826950 rs1314507052	815	I>L		No	ClinGen gnomAD
CA8045240 rs747796282	817	G>R		No	ClinGen ExAC
CA280284810 rs941706825	818	A>V		No	ClinGen TOPMed
rs1440438299 CA395826923	819	P>S		No	ClinGen gnomAD
CA8045238 rs754505839	820	S>*		No	ClinGen ExAC gnomAD
CA395826917 rs754505839	820	S>L		No	ClinGen ExAC gnomAD
CA8045239 rs778622949	820	S>P		No	ClinGen ExAC gnomAD
CA395826910 rs1159344834	821	S>I		No	ClinGen gnomAD
CA395826902 rs1348348476	822	H>L		No	ClinGen TOPMed
rs1411019922 CA395826893	823	W>*		No	ClinGen gnomAD
rs781766300 CA8045236	825	P>H		No	ClinGen ExAC TOPMed gnomAD
rs781766300 CA395826880	825	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1205118945 CA395826858	828	P>L		No	ClinGen TOPMed
CA395826856 rs1234178860	829	H>D		No	ClinGen TOPMed
CA395826854 rs1597088154	829	H>P		No	ClinGen Ensembl
CA8045234 rs751998307	835	A>V		No	ClinGen ExAC TOPMed gnomAD
CA280284771 rs1032231099	837	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA395826793 rs1211473217	839	L>F		No	ClinGen gnomAD
CA280284749 rs999425050	843	L>P		No	ClinGen TOPMed
CA395826751 COSM703637 rs1411077446	845	M>I	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA280284739 rs752932974	845	M>L		No	ClinGen ExAC TOPMed gnomAD
CA8045231 rs752932974	845	M>V		No	ClinGen ExAC TOPMed gnomAD
rs765438718 CA8045230	847	A>P		No	ClinGen ExAC TOPMed gnomAD
rs765438718 CA395826742	847	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1040893709 CA280284693	852	A>V		No	ClinGen TOPMed gnomAD
CA280284682 rs375076343	853	E>K		No	ClinGen ESP TOPMed gnomAD
CA395826694 rs1295050845	854	T>S		No	ClinGen gnomAD
rs759535052 CA8045228	855	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1289178389 CA395826685	856	E>K		No	ClinGen gnomAD
CA8045226 rs766322797	859	E>A		No	ClinGen ExAC gnomAD
rs1347684605 CA395826648	861	L>P		No	ClinGen gnomAD
CA8045225 rs760653621	867	D>E		No	ClinGen ExAC gnomAD
rs771829560 CA8045223	869	E>G		No	ClinGen ExAC gnomAD
COSM435309 rs773100602 CA8045224	869	E>Q	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA
rs747961360 CA8045222	874	I>T		No	ClinGen ExAC gnomAD
CA280284625 rs927570784	876	Q>E		No	ClinGen TOPMed
rs1369972680 CA395826543	877	I>V		No	ClinGen TOPMed
rs920819190 CA280284611	883	Y>D		No	ClinGen TOPMed
rs1420709997 CA395826496	884	M>V		No	ClinGen gnomAD
CA8045219 rs748840043	887	L>I		No	ClinGen ExAC TOPMed gnomAD
CA280284569 rs968702888	887	L>P		No	ClinGen TOPMed gnomAD
CA395826464 rs1222494249	888	N>S		No	ClinGen gnomAD
rs779663403 CA8045218	889	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8045216 rs747562200	892	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	893	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with O75113

1 regional properties for O75113

Type	Name	Position	InterPro Accession
domain	Ribonuclease Zc3h12a-like, NYN domain	617 - 769	IPR021869

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytosol Nucleus Nucleus, nucleolus Nucleus, PML body	Primarily localizes to the nucleolus Also localizes to the PML nuclear bodies, when desumoylated
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 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.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
PML body	A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection.

3 GO annotations of molecular function

Name	Definition
mRNA binding	Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns.
ribonuclease activity	Catalysis of the hydrolysis of phosphodiester bonds in chains of RNA.
ubiquitin binding	Binding to ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation.

7 GO annotations of biological process

Name	Definition
cellular response to UV	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers.
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
negative regulation of cytokine production	Any process that stops, prevents, or reduces the rate of production of a cytokine.
negative regulation of proteasomal ubiquitin-dependent protein catabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome.
negative regulation of protein ubiquitination	Any process that stops, prevents, or reduces the frequency, rate or extent of the addition of ubiquitin groups to a protein.
negative regulation of viral genome replication	Any process that stops, prevents, or reduces the frequency, rate or extent of viral genome replication.
regulation of innate immune response	Any process that modulates the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9P2P1	NYNRIN	Protein NYNRIN	Homo sapiens (Human)	PR
Q8R2N0	Ccdc59	Thyroid transcription factor 1-associated protein 26	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAARAVLDEF	TAPAEKAELL	EQSRGRIEGL	FGVSLAVLGA	LGAEEPLPAR	IWLQLCGAQE
70	80	90	100	110	120
AVHSAKEYIK	GICEPELEER	ECYPKDMHCI	FVGAESLFLK	SLIQDTCADL	CILDIGLLGI
130	140	150	160	170	180
RGSAEAVVMA	RSHIQQFVKL	FENKENLPSS	QKESEVKREF	KQFVEAHADN	YTMDLLILPT
190	200	210	220	230	240
SLKKELLTLT	QGEENLFETG	DDEVIEMRDS	QQTEFTQNAA	TGLNISRDET	VLQEEARNKA
250	260	270	280	290	300
GTPVSELTKQ	MDTVLSSSPD	VLFDPINGLT	PDEEALSNER	ICQKRRFSDS	EERHTKKQFS
310	320	330	340	350	360
LENVQEGEIL	HDAKTLAGNV	IADLSDSSAD	SENLSPDIKE	TTEEMEYNIL	VNFFKTMGYS
370	380	390	400	410	420
QEIVEKVIKV	YGPSTEPLLL	LEEIEKENKR	FQEDREFSAG	TVYPETNKTK	NKGVYSSTNE
430	440	450	460	470	480
LTTDSTPKKT	QAHTQQNMVE	KFSQLPFKVE	AKPCTSNCRI	NTFRTVPIEQ	KHEVWGSNQN
490	500	510	520	530	540
YICNTDPETD	GLSPSVASPS	PKEVNFVSRG	ASSHQPRVPL	FPENGLHQQP	EPLLPNNMKS
550	560	570	580	590	600
ACEKRLGCCS	SPHSKPNCST	LSPPMPLPQL	LPSVTDARSA	GPSDHIDSSV	TGVQRFRDTL
610	620	630	640	650	660
KIPYKLELKN	EPGRTDLKHI	VIDGSNVAIT	HGLKKFFSCR	GIAIAVEYFW	KLGNRNITVF
670	680	690	700	710	720
VPQWRTRRDP	NVTEQHFLTQ	LQELGILSLT	PARMVFGERI	ASHDDRFLLH	LADKTGGIIV
730	740	750	760	770	780
TNDNFREFVN	ESVSWREIIT	KRLLQYTFVG	DIFMVPDDPL	GRSGPRLEEF	LQKEVCLRDM
790	800	810	820	830	840
QPLLSALPNV	GMFDPSFRVP	GTQAASTSHQ	PPTRIQGAPS	SHWLPQQPHF	PLLPALPSLQ
850	860	870	880	890
QNLPMPAQRS	SAETNELREA	LLKIFPDSEQ	RLKIDQILVA	HPYMKDLNAL	SAMVLD