AiPD: Autoinhibited Protein Database

O60524

Gene name	NEMF
Protein name	Ribosome quality control complex subunit NEMF
Names	Antigen NY-CO-1, Nuclear export mediator factor, Serologically defined colon cancer antigen 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9147
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

708-916 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

708-916 (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 O60524

Entry ID	Method	Resolution	Chain	Position	Source
3J92	EM	360 A	u/v	1-501	PDB
AF-O60524-F1	Predicted				AlphaFoldDB

796 variants for O60524

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001267818 rs1892495985	412	N>missing	Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [ClinVar]	Yes	ClinVar dbSNP
rs1892495588 RCV001281347	413	P>missing	Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [ClinVar]	Yes	ClinVar dbSNP
VAR_085459	553	I>T	IDDSAPN; unknown pathological significance [UniProt]	Yes	UniProt
VAR_085460	671	R>del	IDDSAPN [UniProt]	Yes	UniProt
rs1891004545 RCV001267814	672	K>*	Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [ClinVar]	Yes	ClinVar dbSNP
VAR_085461	672	K>del	IDDSAPN [UniProt]	Yes	UniProt
rs864622015 RCV000204354	811	Q>missing	Malignant tumor of prostate [ClinVar]	Yes	ClinVar dbSNP
RCV001267813 CA7174884 rs766931948	870	R>*	Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
VAR_085462	870	R>del	IDDSAPN [UniProt]	Yes	UniProt
RCV001267816 rs1890664852	873	K>missing	Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [ClinVar]	Yes	ClinVar dbSNP
rs1890324880 RCV001267815	959	D>V*	Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [ClinVar]	Yes	ClinVar dbSNP
rs748663568 RCV001250470	1	M>L		No	ClinVar dbSNP
CA7175814 rs781720883	2	K>E		No	ClinGen ExAC
CA7175813 rs370275157	3	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs758653072 CA7175811	4	R>C		No	ClinGen ExAC TOPMed gnomAD
rs758653072 CA7175810	4	R>G		No	ClinGen ExAC TOPMed gnomAD
rs758653072 CA389752238	4	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1304825374 CA389752211	8	I>V		No	ClinGen TOPMed gnomAD
CA7175808 rs763919210	9	D>Y		No	ClinGen ExAC gnomAD
rs752640790 CA7175806	10	L>V		No	ClinGen ExAC TOPMed gnomAD
CA7175805 rs570423944	11	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA261249105 rs373973077	12	A>T		No	ClinGen ESP TOPMed gnomAD
rs1566719409 CA389752180	13	V>A		No	ClinGen Ensembl
CA7175801 rs774594319	13	V>I		No	ClinGen Ensembl
CA7175800 rs370578647	14	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs772839951 CA389752170	15	A>G		No	ClinGen ExAC TOPMed gnomAD
rs142087719 CA7175799	15	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs772839951 CA7175798	15	A>V		No	ClinGen ExAC TOPMed gnomAD
rs374703062 COSM1197457 CA7175770	20	S>R	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs757464378 CA7175769	26	V>I		No	ClinGen ExAC gnomAD
rs954979769 CA261248986	27	N>D		No	ClinGen Ensembl
rs140290029 CA7175768	27	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377005823 CA261248985	28	N>S		No	ClinGen ESP TOPMed gnomAD
CA389752046 rs1385000316	32	V>L		No	ClinGen TOPMed gnomAD
rs202164770 CA7175766	33	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs202164770 CA7175767	33	D>V		No	ClinGen 1000Genomes ExAC gnomAD
CA389752035 rs1193544882	34	N>D		No	ClinGen TOPMed
rs1257879096 CA389752032	34	N>S		No	ClinGen TOPMed
CA7175764 rs766275565	35	K>R		No	ClinGen ExAC gnomAD
CA261248984 rs994728463	36	T>A		No	ClinGen TOPMed gnomAD
rs1402708733 CA614277451	37	Y>*		No	ClinGen gnomAD
TCGA novel	37	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389752006 rs1258937693	38	L>F		No	ClinGen TOPMed gnomAD
CA7175762 rs749885374	40	R>H		No	ClinGen ExAC gnomAD
CA389751984 rs1314127462	42	Q>K		No	ClinGen gnomAD
CA261248970 rs922218987	44	P>L		No	ClinGen TOPMed gnomAD
CA7175747 rs779987650	48	A>V		No	ClinGen ExAC gnomAD
CA389751918 rs1370918741	49	T>I		No	ClinGen gnomAD
rs758291103 CA7175746	49	T>S		No	ClinGen ExAC gnomAD
CA389751896 rs1477835052	53	E>Q		No	ClinGen gnomAD
CA261248968 rs2168538	54	S>C		No	ClinGen Ensembl
rs376684939 CA7175743	55	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1304994732 CA389751879	56	I>V		No	ClinGen TOPMed
CA261248967 rs983240672	57	R>G		No	ClinGen TOPMed
CA389751850 rs1490798283	60	T>R		No	ClinGen gnomAD
TCGA novel	62	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389751827 rs1371175307	63	F>L		No	ClinGen TOPMed
CA261248966 rs950579312	65	W>G		No	ClinGen TOPMed gnomAD
CA7175741 rs761168212	66	P>L		No	ClinGen ExAC gnomAD
CA7175740 rs761168212	66	P>R		No	ClinGen ExAC gnomAD
TCGA novel	67	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7175738 rs768145574	68	N>H		No	ClinGen ExAC gnomAD
rs774707712 CA7175736	69	M>L		No	ClinGen ExAC TOPMed gnomAD
CA389751778 rs1259880534	70	M>I		No	ClinGen TOPMed
rs920680480 CA389751779	70	M>R		No	ClinGen gnomAD
rs920680480 CA261248964	70	M>T		No	ClinGen gnomAD
CA7175735 rs771110673	71	P>S		No	ClinGen ExAC gnomAD
CA7175734 rs749299041	72	S>P		No	ClinGen ExAC gnomAD
rs1332929376 CA389751764	73	S>G		No	ClinGen gnomAD
CA7175733 rs773534040	73	S>T		No	ClinGen ExAC gnomAD
CA389751748 rs1427979755	75	A>S		No	ClinGen TOPMed gnomAD
CA261248963 rs865879484	75	A>V		No	ClinGen Ensembl
CA7175730 rs369204585	76	M>I		No	ClinGen ESP ExAC gnomAD
CA261248961 rs373740402	76	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7175731 rs373740402	76	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1287202775 CA389635172	78	C>R		No	ClinGen gnomAD
CA389635162 rs1245610664	79	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA7175710 rs745616261	81	H>Y		No	ClinGen ExAC gnomAD
rs367682489 CA7175709	82	L>S		No	ClinGen ESP ExAC gnomAD
rs145109420 CA260725540	83	K>E		No	ClinGen ESP
rs1449642829 CA389635119	83	K>N		No	ClinGen gnomAD
rs1340513790 CA389635116	84	S>G		No	ClinGen gnomAD
rs201971042 CA7175708	84	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA7175706 rs780750748	85	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1478243057 CA389635061	87	L>*		No	ClinGen TOPMed
rs1423713491 CA389635050	88	V>I		No	ClinGen gnomAD
rs1383674476 CA389635041	89	S>G		No	ClinGen TOPMed gnomAD
rs1399793159 CA389635025	90	A>T		No	ClinGen TOPMed
rs879443386 CA260725508	91	K>E		No	ClinGen TOPMed gnomAD
rs1298709702 CA389635009	91	K>I		No	ClinGen TOPMed
rs752468647 CA7175704	92	Q>*		No	ClinGen ExAC gnomAD
rs973489427 CA260725501	92	Q>H		No	ClinGen TOPMed
CA389634984 rs1191039221	92	Q>R		No	ClinGen TOPMed gnomAD
rs200217277 CA7175703	93	L>H		No	ClinGen ExAC gnomAD
rs1285444363 CA389634959	94	G>S		No	ClinGen TOPMed
CA389634897 rs1357713324	98	I>T		No	ClinGen gnomAD
CA389634883 rs1289194345	100	D>N		No	ClinGen gnomAD
rs1245751179 CA389634792	104	G>E		No	ClinGen gnomAD
CA389634725 rs1273481825	106	D>G		No	ClinGen TOPMed
rs1269084177 CA389634672	109	A>G		No	ClinGen gnomAD
rs1269084177 CA389634675	109	A>V		No	ClinGen gnomAD
rs1207798677 CA389634598	113	I>L		No	ClinGen TOPMed gnomAD
CA389634582 rs1427991646	113	I>S		No	ClinGen gnomAD
CA7175698 rs763301133	114	I>V		No	ClinGen ExAC gnomAD
rs1298712628 CA389634540	116	L>P		No	ClinGen gnomAD
rs1404155639 CA389634523	117	Y>F		No	ClinGen gnomAD
rs1363484165 CA389634512	118	D>N		No	ClinGen gnomAD
CA260725457 rs199994624	119	R>G		No	ClinGen Ensembl
CA7175664 rs762810303	122	I>V		No	ClinGen ExAC gnomAD
rs1566705974 CA389634073	124	L>P		No	ClinGen Ensembl
rs769808409 CA7175662	127	Y>F		No	ClinGen ExAC gnomAD
rs1342124406 CA389634030	128	E>G		No	ClinGen TOPMed
rs747694791 CA7175661	128	E>K		No	ClinGen ExAC TOPMed gnomAD
rs768364929 CA7175659	130	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1594801112 CA389633988	132	L>*		No	ClinGen Ensembl
rs1421613526 CA389633965	134	I>T		No	ClinGen gnomAD
rs746695126 CA7175658	135	L>P		No	ClinGen ExAC gnomAD
CA7175656 COSM1369935 rs758729795	138	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1218581556 CA389633919	139	T>I		No	ClinGen gnomAD
CA389633897 rs746208387	141	E>D		No	ClinGen ExAC TOPMed gnomAD
CA7175654 rs779417201	142	A>P		No	ClinGen ExAC gnomAD
CA389633895 rs779417201	142	A>T		No	ClinGen ExAC gnomAD
CA260721360 rs900387216	144	D>G		No	ClinGen TOPMed
rs1353267457 CA389633668	144	D>Y		No	ClinGen Ensembl
CA389633634 rs1323673423	146	K>T		No	ClinGen gnomAD
rs1054509534 CA260721351	147	F>V		No	ClinGen Ensembl
CA7175651 rs753742777	150	R>C		No	ClinGen ExAC TOPMed gnomAD
rs753742777 CA389633573	150	R>G		No	ClinGen ExAC TOPMed gnomAD
rs756215934 CA7175650	150	R>H		No	ClinGen ExAC TOPMed gnomAD
CA389633533 rs1476260283	152	R>C		No	ClinGen TOPMed
rs752902504 CA7175649	152	R>H		No	ClinGen ExAC TOPMed gnomAD
CA389633480 COSM1197203 rs1365335205	157	H>R	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1422818951 CA389633453	159	R>T		No	ClinGen TOPMed
rs1464183238 CA389633447	160	A>T		No	ClinGen TOPMed
rs201796350 CA7175648	161	A>G		No	ClinGen 1000Genomes ExAC gnomAD
rs149602229 CA7175646	163	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA260721316 rs149602229	163	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7175647 rs149602229	163	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1594800955 CA389633417	163	P>T		No	ClinGen Ensembl
rs1427386160 CA389633376	166	T>A		No	ClinGen gnomAD
CA260721309 rs918691343	167	L>S		No	ClinGen TOPMed
CA260721308 rs918691343	167	L>W		No	ClinGen TOPMed
CA260721303 rs936069911	168	E>*		No	ClinGen Ensembl
rs761781582 CA7175644	169	R>W		No	ClinGen ExAC gnomAD
rs1189399036 CA389632657	171	T>A		No	ClinGen TOPMed
rs760123988 CA7175623	173	I>T		No	ClinGen ExAC gnomAD
TCGA novel	174	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1167369948 CA389632592	175	A>V		No	ClinGen gnomAD
CA7175622 rs775023963	176	S>N		No	ClinGen ExAC gnomAD
CA389632573 rs141547876	177	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7175620 rs141547876	177	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1445602120 CA389632563	178	P>R		No	ClinGen TOPMed gnomAD
rs1397600185 CA389632559	179	K>Q		No	ClinGen gnomAD
rs565611348 CA7175618	180	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA389632515 rs1170706468	182	L>P		No	ClinGen gnomAD
rs925271285 CA260718748	186	V>M		No	ClinGen TOPMed gnomAD
rs1251760381 CA389632395	192	P>A		No	ClinGen TOPMed gnomAD
COSM955978 rs1251760381 CA389632393	192	P>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs765968441 CA7175598	193	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs765968441 CA389631534	193	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA389631517 rs1443534081	195	P>T		No	ClinGen gnomAD
rs1261588011 CA389631512	196	A>T		No	ClinGen gnomAD
CA7175597 rs763262823	197	L>V		No	ClinGen ExAC gnomAD
rs1356254560 CA389631471	199	E>G		No	ClinGen gnomAD
rs1566698186 CA389631433	202	L>F		No	ClinGen Ensembl
rs1355137275 CA389631377	206	G>A		No	ClinGen TOPMed gnomAD
rs770219251 CA7175595	207	F>L		No	ClinGen ExAC TOPMed gnomAD
CA7175594 rs748744439	208	S>L		No	ClinGen ExAC TOPMed gnomAD
CA389631344 rs768893142	209	G>C		No	ClinGen ExAC TOPMed gnomAD
rs768893142 CA7175592	209	G>S		No	ClinGen ExAC TOPMed gnomAD
CA7175591 rs747059461	210	N>T		No	ClinGen ExAC gnomAD
rs372296872 CA7175590	213	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1308997988 CA389631278	214	D>G		No	ClinGen TOPMed
CA389631247 rs1165100174	216	K>N		No	ClinGen TOPMed gnomAD
rs777564998 CA7175587	216	K>T		No	ClinGen ExAC gnomAD
TCGA novel	217	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs76927287 CA7175586	218	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389630988 rs1180700393	221	D>V		No	ClinGen gnomAD
rs1482252103 CA389630969	222	I>T		No	ClinGen gnomAD
CA7175547 rs762256442	225	V>I		No	ClinGen ExAC gnomAD
rs764702053 CA7175545	226	L>V		No	ClinGen ExAC gnomAD
rs1242605193 CA389630861	227	V>L		No	ClinGen gnomAD
TCGA novel	228	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7175544 rs201741872	233	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1226631650 CA389630642	235	Y>*		No	ClinGen TOPMed gnomAD
rs142866731 CA7175543	235	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA389630630 rs1216081384	236	M>V		No	ClinGen TOPMed
CA7175542 rs772235153	239	T>P		No	ClinGen ExAC TOPMed gnomAD
rs759514593 CA7175541	240	S>A		No	ClinGen ExAC gnomAD
TCGA novel	240	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774656179 CA7175540	241	N>S		No	ClinGen ExAC gnomAD
rs371599477 CA7175516	247	Y>N		No	ClinGen ESP ExAC gnomAD
CA7175515 rs771200910	248	I>T		No	ClinGen ExAC TOPMed gnomAD
CA389629700 rs1421333440	248	I>V		No	ClinGen gnomAD
CA389629673 rs1293054031	250	Q>*		No	ClinGen TOPMed
rs537007186 CA7175514	253	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7175513 rs773420240	254	I>T		No	ClinGen ExAC gnomAD
rs1274531994 CA389629577	256	P>L		No	ClinGen TOPMed
CA389629583 rs1189684737	256	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
VAR_034488 CA7175512 rs3100906	257	S>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs3100906 CA389629574	257	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs3100906 CA389629572	257	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7175511 rs746780772	257	S>T		No	ClinGen ExAC gnomAD
CA7175510 rs754302053	261	D>G		No	ClinGen ExAC TOPMed gnomAD
CA389629480 rs1594787161	264	V>D		No	ClinGen Ensembl
CA260713202 rs946403839	264	V>F		No	ClinGen gnomAD
CA260713206 rs946403839	264	V>I		No	ClinGen gnomAD
rs894803692 CA260713197	265	E>Q		No	ClinGen TOPMed gnomAD
CA389629447 rs1300235089	266	D>E		No	ClinGen TOPMed gnomAD
rs1188475418 CA389629453	266	D>G		No	ClinGen TOPMed
rs745386712 CA7175508	267	I>M		No	ClinGen ExAC TOPMed gnomAD
CA389629443 rs1384721574	267	I>V		No	ClinGen gnomAD
rs143554120 CA7175507	269	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA389629423 rs1326024165	269	T>S		No	ClinGen gnomAD
CA389629363 rs372841817	270	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs372841817 CA7175485	270	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs755762269 CA7175483	276	F>L		No	ClinGen ExAC gnomAD
rs761772235 CA260713008	279	S>P		No	ClinGen Ensembl
rs983997038 CA260712995	281	H>Y		No	ClinGen Ensembl
CA7175481 rs781472160	282	S>L		No	ClinGen ExAC gnomAD
CA7175479 rs752049814	283	Q>K		No	ClinGen ExAC gnomAD
CA7175477 rs758492270	284	C>R		No	ClinGen ExAC gnomAD
rs1202591815 CA389629145	285	P>L		No	ClinGen gnomAD
rs1254658615 CA389629157	285	P>T		No	ClinGen gnomAD
CA7175476 rs750460266	286	Y>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	288	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	289	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1028912182 COSM955976 CA260712968	289	F>L	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA7175475 rs765446304	289	F>S		No	ClinGen ExAC gnomAD
CA7175474 rs761882952	290	E>D		No	ClinGen ExAC TOPMed
rs996673326 CA260712089	295	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	298	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs267603993 CA260712022	301	S>F		No	ClinGen gnomAD
COSM284842 rs974746740 CA260712012	302	K>N	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA260711983 rs1040947423	303	I>K		No	ClinGen TOPMed gnomAD
CA7175446 rs766434258	305	G>D		No	ClinGen ExAC TOPMed gnomAD
CA7175447 rs141989587	305	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389628781 rs1293266442	308	I>M		No	ClinGen TOPMed
CA389628784 rs1415746219	308	I>T		No	ClinGen TOPMed
rs563898727 CA7175445	308	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs773281430 CA7175444	314	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA7175443 rs769229852	315	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA7175416 rs562068169	316	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs774742234 CA7175414	319	A>P		No	ClinGen ExAC gnomAD
rs774742234 CA389628657	319	A>T		No	ClinGen ExAC gnomAD
CA7175412 rs749341570	321	K>R		No	ClinGen ExAC gnomAD
COSM955973 CA7175410 rs756145153	327	R>*	Variant assessed as Somatic; 0.0002777 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs756145153 CA389628601	327	R>G		No	ClinGen ExAC gnomAD
CA389628599 rs748423148	327	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7175409 COSM1225013 rs748423148 RCV001250467	327	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs1353175491 CA389628571	331	E>G		No	ClinGen gnomAD
COSM172497 CA7175407 rs147568381	331	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA389628550 rs1374747858	334	L>*		No	ClinGen gnomAD
rs1302772380 CA389628523	338	Q>*		No	ClinGen gnomAD
rs1446354141 CA389628519	338	Q>H		No	ClinGen gnomAD
CA7175405 rs765087109	341	Q>R		No	ClinGen ExAC gnomAD
CA7175386 rs778823374	343	I>L		No	ClinGen ExAC gnomAD
CA7175385 rs756994949	343	I>M		No	ClinGen ExAC gnomAD
CA389628445 rs1472802239	343	I>T		No	ClinGen gnomAD
CA260709732 rs778823374	343	I>V		No	ClinGen ExAC gnomAD
rs1168971949 CA389628395	347	K>R		No	ClinGen TOPMed
rs763913521 CA7175383	351	I>V		No	ClinGen ExAC gnomAD
rs755644167 CA7175382	353	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1419880974 CA389628307	354	N>H		No	ClinGen gnomAD
rs1467195256 CA389628300	354	N>I		No	ClinGen TOPMed
CA389628266 TCGA novel rs1003276858	357	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed gnomAD
rs1003276858 CA260709654	357	I>V		No	ClinGen TOPMed gnomAD
rs773872800 CA7175378	361	A>V		No	ClinGen ExAC TOPMed gnomAD
rs766808622 CA7175377	363	Q>R		No	ClinGen ExAC gnomAD
rs763208222 CA7175376	364	V>I		No	ClinGen ExAC TOPMed
rs1211840030 CA389628159	365	V>F		No	ClinGen gnomAD
CA389628151 rs1293355551	366	R>*		No	ClinGen TOPMed
COSM257971 CA260709618 rs866428459	366	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA389628058 rs1218485111	373	I>L		No	ClinGen gnomAD
TCGA novel	375	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	375	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs576948878 CA7175372	376	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA7175373 rs576948878	376	T>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1262561378 CA389627947	381	I>M		No	ClinGen TOPMed
rs1324663076 CA389627949	381	I>T		No	ClinGen TOPMed gnomAD
rs1007099059 CA260709595	382	V>A		No	ClinGen Ensembl
rs1438050117 CA389627925	383	K>N		No	ClinGen TOPMed gnomAD
rs200483683 CA260709588	385	A>S		No	ClinGen 1000Genomes
rs1566691008 CA389627894	386	Q>R		No	ClinGen Ensembl
CA389627843 rs1165544940	390	D>H		No	ClinGen gnomAD
TCGA novel	390	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs574753872 CA7175369	394	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs747320286 CA7175370	394	S>R		No	ClinGen ExAC TOPMed gnomAD
rs770808083 CA7175368	395	A>V		No	ClinGen ExAC TOPMed gnomAD
CA260709552 rs1010864530	396	I>V		No	ClinGen TOPMed
CA7175367 rs748986642	397	K>R		No	ClinGen ExAC gnomAD
CA260709524 rs1054094115	400	K>R		No	ClinGen gnomAD
rs752617306 CA7175364	405	H>R		No	ClinGen ExAC gnomAD
CA7175363 rs780748874	406	V>I		No	ClinGen ExAC TOPMed gnomAD
rs185928315 CA7175362	407	T>R		No	ClinGen 1000Genomes ExAC gnomAD
CA389627585 rs1319509077	407	T>S		No	ClinGen TOPMed gnomAD
CA7175360 rs765901949	408	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1302199957 CA389627533	409	L>P		No	ClinGen gnomAD
rs201348677 CA7175359	411	R>G		No	ClinGen ExAC TOPMed gnomAD
rs750691069 CA7175358	411	R>K		No	ClinGen ExAC gnomAD
CA7175338 rs762233448	412	N>I		No	ClinGen ExAC gnomAD
rs762233448 CA389627429	412	N>S		No	ClinGen ExAC gnomAD
rs754443002 CA7175337	413	P>Q		No	ClinGen ExAC gnomAD
CA389627371 CA260709273 rs985916082	415	L>F		No	ClinGen gnomAD
rs568374976 CA7175336	415	L>S		No	ClinGen 1000Genomes ExAC gnomAD
CA260709272 rs1020309875	416	L>V		No	ClinGen TOPMed
CA260709247 rs142944154	417	S>*		No	ClinGen ESP TOPMed
CA389627312 rs1183179658	419	E>G		No	ClinGen gnomAD
CA7175334 rs775366174	419	E>K		No	ClinGen ExAC gnomAD
rs148555859 CA260709218	420	E>K		No	ClinGen ESP TOPMed
CA389627277 rs1423671630	421	D>V		No	ClinGen gnomAD
CA7175333 rs767622146	422	D>G		No	ClinGen ExAC gnomAD
CA7175332 rs759745007	423	D>V		No	ClinGen ExAC gnomAD
CA389627197 rs1280554725	425	D>V		No	ClinGen TOPMed gnomAD
CA7175330 rs774526855	427	D>G		No	ClinGen ExAC TOPMed gnomAD
CA389627145 rs1354701334	428	V>A		No	ClinGen gnomAD
rs1239689750 CA389627149	428	V>F		No	ClinGen TOPMed gnomAD
CA389627153 rs1239689750	428	V>I		No	ClinGen TOPMed gnomAD
rs776585002 CA7175328	429	N>D		No	ClinGen ExAC TOPMed gnomAD
CA7175327 rs776585002	429	N>H		No	ClinGen ExAC TOPMed gnomAD
CA7175326 rs201753626	429	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1317906496 CA389627109	430	V>G		No	ClinGen TOPMed gnomAD
rs867929233 CA260709157	431	E>*		No	ClinGen Ensembl
rs1399089913 CA389627085	432	K>Q		No	ClinGen TOPMed gnomAD
TCGA novel	433	N>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1336231557 CA389626998	435	T>I		No	ClinGen TOPMed
CA260709139 rs1051765273	436	E>Q		No	ClinGen TOPMed
rs779484089 CA7175324	437	P>S		No	ClinGen ExAC gnomAD
rs757918646 CA7175323	438	P>S		No	ClinGen ExAC gnomAD
CA389626918 rs1257856164	440	G>E		No	ClinGen gnomAD
CA7175321 rs762812340	440	G>R		No	ClinGen ExAC gnomAD
CA389626900 rs1444857575	441	K>E		No	ClinGen gnomAD
CA7175319 rs764667364	442	K>N		No	ClinGen ExAC gnomAD
rs1367820032 CA389626835	444	K>T		No	ClinGen TOPMed
CA7175317 rs756519437	445	Q>K		No	ClinGen ExAC gnomAD
rs767534791 CA7175316	445	Q>L		No	ClinGen ExAC gnomAD
rs767534791 CA7175315	445	Q>R		No	ClinGen ExAC gnomAD
rs759590920 CA389626794	447	N>D		No	ClinGen ExAC TOPMed gnomAD
rs759590920 CA7175312	447	N>H		No	ClinGen ExAC TOPMed gnomAD
rs956304072 CA260709011	449	Q>K		No	ClinGen Ensembl
TCGA novel	450	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766550213 CA7175310	453	P>H		No	ClinGen ExAC gnomAD
TCGA novel	454	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs562373491 CA7175309	455	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	456	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7175308 rs776356236	457	K>R		No	ClinGen ExAC gnomAD
rs376060040 CA389626596	458	P>A		No	ClinGen ESP ExAC gnomAD
CA7175306 rs376060040	458	P>T		No	ClinGen ESP ExAC gnomAD
rs1392995911 CA389626565	460	L>F		No	ClinGen gnomAD
rs1167718162 CA389626558	460	L>H		No	ClinGen TOPMed gnomAD
rs144853025 CA7175305	461	V>I		No	ClinGen ESP ExAC TOPMed
CA389626538 rs1462368162	462	D>A		No	ClinGen gnomAD
CA7175304 rs771529080	464	D>E		No	ClinGen ExAC TOPMed gnomAD
rs778737901 CA7175302	467	L>S		No	ClinGen ExAC TOPMed gnomAD
rs371405135 CA7175300	470	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA389626409 rs1192377585	471	A>V		No	ClinGen gnomAD
rs778066469 CA7175299	472	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1372491765 CA389626388	473	A>V		No	ClinGen TOPMed
CA389626381 rs1474372659	474	K>E		No	ClinGen TOPMed
CA389625842 rs1423256061	476	Y>C		No	ClinGen TOPMed
CA7175277 rs770078192	476	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs748507280 CA389625832	477	Y>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	479	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389625795 rs1374903031	482	Y>C		No	ClinGen TOPMed
CA260708594 rs113269165	483	A>T		No	ClinGen Ensembl
rs1373215427 CA389625779	485	K>E		No	ClinGen TOPMed gnomAD
rs1333610775 CA389625760	487	T>R		No	ClinGen TOPMed
rs955613709 CA260708553	489	K>R		No	ClinGen Ensembl
TCGA novel	491	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758437197 CA7175271	491	V>I		No	ClinGen ExAC gnomAD
CA260708521 rs766652077	494	A>V		No	ClinGen Ensembl
CA7175269 rs765448676	495	E>K		No	ClinGen ExAC gnomAD
rs370101877 CA7175255	497	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs777884603 CA389625668	499	K>M		No	ClinGen ExAC gnomAD
rs777884603 CA7175254	499	K>R		No	ClinGen ExAC gnomAD
CA7175253 rs777884603	499	K>T		No	ClinGen ExAC gnomAD
rs1276417088 CA389625626	505	T>R		No	ClinGen TOPMed
CA7175250 rs745923647	507	Q>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	512	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389625560 rs1188773182	513	Q>E		No	ClinGen gnomAD
CA7175248 rs757444188	513	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM3728188 rs779009062 CA7175249	513	Q>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA389625543 rs1566686910	514	T>I		No	ClinGen Ensembl
rs1337416142 CA389625518	516	T>I		No	ClinGen TOPMed gnomAD
rs1337416142 CA389625521	516	T>N		No	ClinGen TOPMed gnomAD
rs1396277902 CA389625509	517	S>C		No	ClinGen gnomAD
rs753993048 CA7175247	517	S>P		No	ClinGen ExAC gnomAD
rs755924519 CA260706242	518	I>M		No	ClinGen TOPMed gnomAD
rs1165251189 CA389625502	518	I>V		No	ClinGen Ensembl
rs767486880 CA389625468	520	K>R		No	ClinGen ExAC gnomAD
rs767486880 CA7175246	520	K>T		No	ClinGen ExAC gnomAD
CA7175245 rs140163252	521	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7175243 rs534498135	524	V>I		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	527	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	530	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389623749 rs1218623287	534	I>F		No	ClinGen TOPMed
CA389623752 rs1218623287	534	I>V		No	ClinGen TOPMed
rs1261799108 CA389623711	536	S>L		No	ClinGen TOPMed
rs756826473 CA7175204	537	E>Q		No	ClinGen ExAC gnomAD
rs753281525 CA7175203	538	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1416180972 CA389623600	545	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs760379976 CA7175200 COSM144404	545	R>Q	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1473602253 CA389623593	546	D>N		No	ClinGen gnomAD
TCGA novel	546	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	549	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1368652354 CA389623536	551	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA389623465 rs1249284030	561	G>R		No	ClinGen gnomAD
CA7175175 rs763619847	562	D>V		No	ClinGen ExAC gnomAD
CA389623440 rs1437738889	563	I>V		No	ClinGen gnomAD
TCGA novel	570	H>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389623389 rs1427447466	570	H>R		No	ClinGen gnomAD
CA260691657 COSM3386568 rs201808827	576	V>I	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes
rs1566673615 CA389623319	580	P>S		No	ClinGen Ensembl
rs925696830 CA389623311	581	T>I		No	ClinGen TOPMed gnomAD
CA260691653 rs925696830	581	T>R		No	ClinGen TOPMed gnomAD
CA389622365 rs1230199540	583	E>V		No	ClinGen gnomAD
CA389622359 rs1210880858	584	P>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs368872377 CA7175157	584	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7175154 rs374912149	586	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA389622350 rs1230689510	586	P>T		No	ClinGen gnomAD
rs1232321523 CA389622341	587	P>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1293016661 CA389622343	587	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1293016661 CA389622344	587	P>T		No	ClinGen TOPMed gnomAD
rs764224132 CA7175153	588	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7175152 rs373601628	596	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7175151 rs576349163	597	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749035018 CA7175149	598	L>F		No	ClinGen ExAC TOPMed gnomAD
CA389622221 rs1566665129	605	D>E		No	ClinGen Ensembl
rs769661161 CA7175147	607	R>*		No	ClinGen ExAC gnomAD
rs748102288 CA7175146	607	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1420441856 CA389622187	609	I>V		No	ClinGen TOPMed
CA7175145 rs370320203	610	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7175144 rs754476684	610	T>I		No	ClinGen ExAC TOPMed gnomAD
CA260686047 rs878931810	612	A>V		No	ClinGen TOPMed gnomAD
CA389622116 rs1485578771	614	W>*		No	ClinGen gnomAD
CA7175142 rs779800254	616	Y>C		No	ClinGen ExAC gnomAD
rs1465704409 CA389622070	617	H>P		No	ClinGen gnomAD
rs1413223587 CA389622068	617	H>Q		No	ClinGen TOPMed gnomAD
rs1161966984 CA389622061	618	H>Y		No	ClinGen TOPMed gnomAD
TCGA novel	619	Q>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1170633421 CA389621241	623	T>A		No	ClinGen gnomAD
CA7175119 rs553749740	623	T>R		No	ClinGen 1000Genomes ExAC gnomAD
CA7175118 rs779489384	626	T>A		No	ClinGen ExAC gnomAD
CA7175117 rs533823333	628	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA389621151 rs1176966525	631	T>A		No	ClinGen gnomAD
rs1482547399 CA389621117	634	S>G		No	ClinGen gnomAD
CA7175114 rs756179990	636	M>V		No	ClinGen ExAC gnomAD
rs1189083924 CA389621067	637	I>V		No	ClinGen TOPMed
CA260682903 rs376684272	641	K>N		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA389620934 rs1332320024	642	N>D		No	ClinGen gnomAD
rs751799199 CA7175092	642	N>S		No	ClinGen ExAC TOPMed gnomAD
CA7175090 rs761513442	645	P>S		No	ClinGen ExAC TOPMed gnomAD
CA260682876 rs962039209	646	P>A		No	ClinGen TOPMed
rs753615096 CA7175089	646	P>H		No	ClinGen ExAC gnomAD
CA389620865 rs1300779234	647	S>L		No	ClinGen gnomAD
CA389620809 rs1227998597	651	M>I		No	ClinGen TOPMed
CA260682819 rs984830194	651	M>V		No	ClinGen TOPMed
rs372419427 CA7175085	652	G>A		No	ClinGen ESP ExAC gnomAD
rs775540532 CA7175086	652	G>R		No	ClinGen ExAC gnomAD
CA389620785 rs1249815454	653	F>Y		No	ClinGen TOPMed
rs529283566 CA260682807	654	S>G		No	ClinGen TOPMed
CA389620774 rs529283566	654	S>R		No	ClinGen TOPMed
rs759069254 CA7175084	654	S>T		No	ClinGen ExAC gnomAD
rs538027812 CA7175064	659	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs538027812 CA7175065	659	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA389620644 rs1249813371	660	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7175063 rs148240881	660	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1189042978 CA389620542	667	H>R		No	ClinGen gnomAD
CA260682649 rs375152000	668	Q>R		No	ClinGen TOPMed
rs765802022 RCV001250469 CA7175062	671	R>*		No	ClinGen ClinVar ExAC dbSNP
COSM1369930 rs369742269 CA7175061	671	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA7175058 rs748468795	680	M>T		No	ClinGen ExAC gnomAD
CA7175057 rs777123161	682	T>I		No	ClinGen ExAC gnomAD
rs747504296 CA7175055	684	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1299007967 CA389620273	685	S>G		No	ClinGen TOPMed gnomAD
rs868745802 CA260682609	686	C>F		No	ClinGen Ensembl
rs889577949 CA260682601	687	T>A		No	ClinGen TOPMed gnomAD
CA7175054 rs780249578	687	T>I		No	ClinGen ExAC gnomAD
rs889577949 CA389620236	687	T>P		No	ClinGen TOPMed gnomAD
CA7175053 rs758380991	688	S>G		No	ClinGen ExAC TOPMed gnomAD
rs892673487 CA260682593	688	S>N		No	ClinGen gnomAD
rs778955451 CA7175051	690	L>V		No	ClinGen ExAC TOPMed gnomAD
CA389620176 rs1258986120	691	I>M		No	ClinGen TOPMed
CA260682581 rs1001120544	691	I>V		No	ClinGen Ensembl
CA7175049 rs752476488	692	S>L		No	ClinGen ExAC gnomAD
rs756004311 CA7175050	692	S>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	694	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1244791221 CA389620118	694	E>D		No	ClinGen gnomAD
CA260682532 rs904070766	694	E>G		No	ClinGen gnomAD
CA389620100 rs1490592928	695	M>T		No	ClinGen gnomAD
rs142290871 CA7175048	695	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7175046 rs558739252	698	L>I		No	ClinGen 1000Genomes ExAC gnomAD
rs538511705 CA7175045	698	L>S		No	ClinGen 1000Genomes ExAC gnomAD
rs762320543 CA7175044	699	D>H		No	ClinGen ExAC gnomAD
rs1446630004 CA389619295	700	G>A		No	ClinGen TOPMed gnomAD
rs749840942 CA7175025	701	G>R		No	ClinGen ExAC gnomAD
rs1470217099 CA389619253 COSM3401330	703	T>M	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA389619254 rs1470217099	703	T>R		No	ClinGen TOPMed gnomAD
CA389619250 rs1156656023	704	S>G		No	ClinGen gnomAD
rs753460004 CA7175021	705	S>R		No	ClinGen ExAC gnomAD
rs1408978332 CA389619216	706	D>G		No	ClinGen gnomAD
CA389619178 rs1471859486	708	D>E		No	ClinGen gnomAD
CA7175020 rs764495128	708	D>V		No	ClinGen ExAC TOPMed gnomAD
CA389619176 rs1239216558	709	K>E		No	ClinGen gnomAD
rs1594742757 CA389619168	709	K>R		No	ClinGen Ensembl
rs776097520 CA7175018	711	E>G		No	ClinGen ExAC gnomAD
rs760903394 CA7175019	711	E>Q		No	ClinGen ExAC gnomAD
CA7175017 rs772393353	712	H>Y		No	ClinGen ExAC gnomAD
CA7175016 rs759677526	714	T>I		No	ClinGen ExAC gnomAD
CA260680694 rs759677526	714	T>S		No	ClinGen ExAC gnomAD
CA7175015 rs774632556 COSM955970	716	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs771102945 CA7175014	718	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1181682018 CA389619050	718	V>I		No	ClinGen TOPMed
rs1437449358 CA389619021	720	L>P		No	ClinGen TOPMed
CA389619008 rs1453344737	721	M>R		No	ClinGen gnomAD
rs146943011 CA7175013	721	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA389618954 rs1161367030	725	D>G		No	ClinGen TOPMed
CA7175012 rs778092077	725	D>H		No	ClinGen ExAC TOPMed
rs778092077 CA389618961	725	D>Y		No	ClinGen ExAC TOPMed
rs768526186 CA7175011	726	Q>*		No	ClinGen ExAC TOPMed
rs768526186 CA389618944	726	Q>E		No	ClinGen ExAC TOPMed
rs753561734 CA7175009	728	D>A		No	ClinGen ExAC gnomAD
rs753561734 CA260680629	728	D>G		No	ClinGen ExAC gnomAD
CA7175010 rs746711593	728	D>N		No	ClinGen ExAC gnomAD
rs550304107 CA260680617	729	I>V		No	ClinGen 1000Genomes
CA389618878 rs1594742649	731	L>F		No	ClinGen Ensembl
CA260680575 rs910039028	732	Q>H		No	ClinGen Ensembl
CA7175007 rs750367198	732	Q>K		No	ClinGen ExAC gnomAD
CA389618861 rs1392182469	732	Q>R		No	ClinGen gnomAD
CA260680565 rs919658270	733	S>G		No	ClinGen TOPMed
CA7175006 rs367786729	734	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA260680545 rs111622604	735	R>K		No	ClinGen Ensembl
CA7175004 rs753515235	736	D>G		No	ClinGen ExAC gnomAD
rs756506472 CA7175002	738	L>V		No	ClinGen ExAC gnomAD
rs1316070542 CA389618797	739	N>Y		No	ClinGen TOPMed
rs1049155367 CA260680534	743	I>M		No	ClinGen Ensembl
CA260680536 rs866029040	743	I>V		No	ClinGen Ensembl
CA7175000 rs767912987	744	Q>R		No	ClinGen ExAC TOPMed
CA260680533 rs200366621	747	S>G		No	ClinGen Ensembl
CA7174997 rs530556867	751	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	752	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389618687 rs1341439576	754	Y>C		No	ClinGen TOPMed gnomAD
CA260680521 rs201819692	755	E>D		No	ClinGen Ensembl
CA7174995 rs763086979	756	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1205159500 CA389618675	756	E>Q		No	ClinGen TOPMed
rs1292683427 CA389618628	762	D>G		No	ClinGen gnomAD
TCGA novel	762	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	762	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389618617 rs1443446166	764	V>I		No	ClinGen TOPMed
CA260680489 rs148821260 CA389618583	768	K>N		No	ClinGen ESP gnomAD
rs1434646863 CA389618586	768	K>R		No	ClinGen gnomAD
CA389618574 rs1184815254	770	E>K		No	ClinGen TOPMed
TCGA novel	773	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147048207 CA7174993	773	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748384684 CA7174992	774	T>I		No	ClinGen ExAC gnomAD
CA7174991 rs775212690	779	D>V		No	ClinGen ExAC gnomAD
CA7174990 rs771866967	781	T>A		No	ClinGen ExAC gnomAD
rs745857189 CA7174989	781	T>I		No	ClinGen ExAC gnomAD
rs1487339174 CA389618490	782	I>T		No	ClinGen gnomAD
rs1189810308 CA389618493	782	I>V		No	ClinGen gnomAD
CA389618481 rs1270577550	783	D>E		No	ClinGen gnomAD
rs778777377 CA7174988	784	L>F		No	ClinGen ExAC TOPMed gnomAD
CA260680424 rs760263981	784	L>M		No	ClinGen TOPMed gnomAD
rs756795071 CA7174987	785	S>P		No	ClinGen ExAC TOPMed gnomAD
rs183905953 CA260680414	788	Q>P		No	ClinGen 1000Genomes
rs776893688 CA260679568	791	R>S		No	ClinGen ExAC gnomAD
CA389618125 rs1354045636 COSM3419828	794	Q>H	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1566658734 CA389618138	794	Q>R		No	ClinGen Ensembl
CA7174971 rs776857492	797	A>P		No	ClinGen ExAC TOPMed gnomAD
rs776857492 CA7174970	797	A>T		No	ClinGen ExAC TOPMed gnomAD
CA389618045 rs1312807281	799	K>E		No	ClinGen gnomAD
rs1228064308 CA389618035	799	K>I		No	ClinGen gnomAD
CA389618036 rs1228064308	799	K>R		No	ClinGen gnomAD
rs1309326354 CA389618018	800	E>A		No	ClinGen gnomAD
rs768575692 CA389618026	800	E>K		No	ClinGen TOPMed gnomAD
rs768575692 CA7174968	800	E>Q		No	ClinGen TOPMed gnomAD
CA260679496 rs548744392	801	E>D		No	ClinGen 1000Genomes TOPMed gnomAD
rs559066176 CA7174967	801	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA389618006 rs1594741393	801	E>Q		No	ClinGen Ensembl
CA389617967 rs1301620298	803	S>A		No	ClinGen gnomAD
TCGA novel	804	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389617948 rs1451358571	804	N>S		No	ClinGen TOPMed
rs1197231795 CA389617932	805	S>F		No	ClinGen TOPMed
rs779844487 CA260679345	806	S>C		No	ClinGen Ensembl
rs1181192474 CA389617828	807	D>E		No	ClinGen gnomAD
CA7174947 rs189851166	807	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1446436684 CA389617767	810	S>L		No	ClinGen gnomAD
CA389617761 rs1594741082	811	Q>E		No	ClinGen Ensembl
CA389617707 rs780721239	813	R>L		No	ClinGen ExAC TOPMed gnomAD
CA389617710 rs780721239	813	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7174943 rs780721239	813	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1369929 rs374748527 CA7174944	813	R>W	large_intestine haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA7174940 rs780602247	815	H>Y		No	ClinGen ExAC gnomAD
CA7174939 rs758810702	817	S>T		No	ClinGen ExAC gnomAD
CA389617637 rs1433452295	819	K>E		No	ClinGen gnomAD
rs1328579265 CA389617633	819	K>T		No	ClinGen gnomAD
rs1174910074 CA389617056	823	E>K		No	ClinGen gnomAD
rs777872743 CA7174914	825	K>E		No	ClinGen ExAC gnomAD
TCGA novel	827	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1175636531 CA389617005	829	L>H		No	ClinGen TOPMed gnomAD
rs1175636531 CA389617004	829	L>P		No	ClinGen TOPMed gnomAD
CA7174910 rs146851949	830	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs140761202 CA7174912	830	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140761202 CA7174911	830	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7174909 rs758140977	831	S>N		No	ClinGen ExAC gnomAD
CA260675622 rs1011946772	832	D>N		No	ClinGen Ensembl
rs896324434 CA389616947	838	A>E		No	ClinGen TOPMed gnomAD
COSM955967 rs896324434 CA260675604	838	A>V	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA389616935 rs1267106038	840	E>A		No	ClinGen TOPMed gnomAD
rs1374905310 CA389616928	841	G>*		No	ClinGen gnomAD
TCGA novel	841	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7174903 rs760225357	842	K>N		No	ClinGen ExAC gnomAD
CA389616914 rs1380479025	843	D>N		No	ClinGen gnomAD
CA389616893 rs1388667340	845	E>D		No	ClinGen TOPMed
CA389616896 rs1216439737	845	E>G		No	ClinGen Ensembl
CA7174902 rs540270515	847	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA389616884 rs1566654737	847	E>Q		No	ClinGen Ensembl
TCGA novel	848	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389616862 CA7174901 rs771796069	850	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1413613622 CA389616854	851	H>P		No	ClinGen TOPMed
CA389616846 rs1331595906	852	I>T		No	ClinGen TOPMed
rs745498098 CA7174900	853	E>G		No	ClinGen ExAC gnomAD
CA260675550 rs929922337	855	H>Y		No	ClinGen Ensembl
rs1129858 CA260675548	856	Q>*		No	ClinGen Ensembl
CA7174898 rs146152795	856	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1296808961 CA389616803	858	T>A		No	ClinGen TOPMed
CA7174894 rs142838359	860	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778206827 CA7174896	860	K>R		No	ClinGen ExAC gnomAD
rs148504688 CA7174892	862	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs373183386 CA7174893	862	V>I		No	ClinGen ESP ExAC gnomAD
CA7174891 rs751696039	863	A>G		No	ClinGen ExAC TOPMed gnomAD
CA389616748 rs751696039	863	A>V		No	ClinGen ExAC TOPMed gnomAD
CA389616734 rs1213247152	864	A>V		No	ClinGen gnomAD
rs753855370 CA7174888	865	V>G		No	ClinGen ExAC gnomAD
CA7174889 rs756950161	865	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs544061075 CA7174886	866	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
CA260675353 rs942060856	868	M>V		No	ClinGen TOPMed
rs1439039801 CA389616686	869	K>Q		No	ClinGen gnomAD
rs1453227464 CA389616685	869	K>T		No	ClinGen gnomAD
rs1465427410 COSM955965 CA389616675	870	R>Q	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs917503243 CA260675352	871	G>R		No	ClinGen TOPMed
rs1286869093 CA389616655	872	Q>R		No	ClinGen gnomAD
CA389615284 rs1429498313	875	K>R		No	ClinGen gnomAD
CA389615266 rs1198280668	876	M>I		No	ClinGen gnomAD
rs1424843865 CA389615278	876	M>V		No	ClinGen gnomAD
TCGA novel	879	M>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	879	M>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7174863 rs773450836	879	M>T		No	ClinGen ExAC gnomAD
CA7174862 rs554810200	881	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1129834 CA260669165	881	E>K		No	ClinGen Ensembl
CA260669136 rs866975566	883	Y>*		No	ClinGen Ensembl
rs1270472891 CA389615180	883	Y>H		No	ClinGen gnomAD
CA7174860 rs769832049	884	K>R		No	ClinGen ExAC TOPMed gnomAD
CA389615134 rs1480306196	885	D>E		No	ClinGen gnomAD
rs773630347 CA7174859	889	E>D		No	ClinGen ExAC gnomAD
rs1249549742 CA389615087	889	E>G		No	ClinGen gnomAD
rs1307880546 CA389615065	890	D>E		No	ClinGen gnomAD
CA7174858 rs770108322	891	R>C		No	ClinGen ExAC TOPMed gnomAD
rs770108322 CA389615061	891	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1221954941 CA389615060	891	R>H		No	ClinGen gnomAD
rs748304897 CA260669104	894	I>T		No	ClinGen gnomAD
TCGA novel	898	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389614862 rs1566648337	906	E>Q		No	ClinGen Ensembl
CA389614836 rs1363880865	908	K>E		No	ClinGen gnomAD
CA260668955 rs976299077	908	K>N		No	ClinGen Ensembl
CA7174844 rs780954215	911	K>T		No	ClinGen ExAC TOPMed gnomAD
rs527924490 CA7174841	913	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs750055129 CA7174839	915	G>R		No	ClinGen ExAC gnomAD
CA7174836 rs777198287	918	K>N		No	ClinGen ExAC gnomAD
CA7174837 rs762123944	918	K>R		No	ClinGen ExAC TOPMed gnomAD
CA389614698 rs1419658401	919	D>A		No	ClinGen gnomAD
rs768988729 CA7174835	919	D>N		No	ClinGen ExAC gnomAD
CA7174833 rs775501194	920	E>K		No	ClinGen ExAC gnomAD
rs1462505480 CA389614671	921	P>R		No	ClinGen gnomAD
rs1311540542 CA389614675	921	P>S		No	ClinGen TOPMed
rs767212051 RCV001250471	923	K>missing		No	ClinVar dbSNP
CA389614654 rs746145546	923	K>N		No	ClinGen ExAC
rs1243490637 CA389614647	924	K>I		No	ClinGen gnomAD
rs149383082 CA7174829	925	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1239857520 RCV001250466 CA389614632	926	P>L		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1262629391 CA389614635	926	P>S		No	ClinGen gnomAD
rs1359694893 CA389614631	927	Q>E		No	ClinGen gnomAD
rs568568779 CA7174828	929	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs568568779 CA389614611	929	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA389614591 rs1174911644	933	Q>*		No	ClinGen gnomAD
CA389614587 rs1566648104	933	Q>R		No	ClinGen Ensembl
rs781025991 CA7174826	934	R>S		No	ClinGen ExAC TOPMed
rs1181093185 CA389614574	935	V>D		No	ClinGen TOPMed
CA260668876 rs967801605	936	S>P		No	ClinGen TOPMed gnomAD
CA7174825 rs754934181	937	D>E		No	ClinGen ExAC gnomAD
TCGA novel	938	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1566648051 CA389614549	939	I>N		No	ClinGen Ensembl
CA260668875 rs1023789938	939	I>V		No	ClinGen Ensembl
rs548814149 CA7174824	941	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1430530086 CA389614534	941	K>R		No	ClinGen TOPMed
TCGA novel	942	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7174821 rs370695496	944	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1430643637 CA389614492	946	L>P		No	ClinGen TOPMed gnomAD
rs1384028122 CA389614475	948	V>I		No	ClinGen gnomAD
CA7174819 rs138770555	949	I>V		No	ClinGen ESP ExAC
rs561516416 CA260668852	951	H>R		No	ClinGen Ensembl
rs757629295 CA7174818 COSM416681	951	H>Y	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs754215594 CA7174817	953	L>V		No	ClinGen ExAC gnomAD
rs1192184683 CA389614363	956	F>S		No	ClinGen TOPMed gnomAD
CA389614365 rs1385688865	956	F>V		No	ClinGen gnomAD
rs199687916 CA7174814	959	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs376310576 CA7174815	959	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs767732115 CA7174813	960	D>N		No	ClinGen ExAC gnomAD
CA389614293 rs960815339	962	H>N		No	ClinGen TOPMed
rs112960941 CA260668822	962	H>R		No	ClinGen Ensembl
CA260668823 rs960815339	962	H>Y		No	ClinGen TOPMed
rs1594722061 CA389614267	963	D>E		No	ClinGen Ensembl
CA7174812 rs774722348	964	D>H		No	ClinGen ExAC TOPMed gnomAD
CA7174811 rs774722348	964	D>N		No	ClinGen ExAC TOPMed gnomAD
rs774722348 CA260668813	964	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA7174795 rs768073884	966	E>G		No	ClinGen ExAC gnomAD
rs751753650 CA7174793	967	E>D		No	ClinGen ExAC gnomAD
rs201822948 CA7174794	967	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1406251954 CA389613539	971	D>N		No	ClinGen gnomAD
CA7174792 rs766533134	972	Q>R		No	ClinGen ExAC gnomAD
CA260666862 rs912199190	973	Q>E		No	ClinGen gnomAD
CA7174791 rs763130474	975	N>I		No	ClinGen ExAC TOPMed gnomAD
rs1408101630 CA389613487	976	E>K		No	ClinGen gnomAD
CA389612983 rs1183458139	977	E>G		No	ClinGen TOPMed gnomAD
rs1173634285 CA389612966	978	N>S		No	ClinGen TOPMed
CA389612967 rs1173634285	978	N>T		No	ClinGen TOPMed
CA7174771 rs765440681	981	D>G		No	ClinGen ExAC gnomAD
CA389612858 rs1442619283	985	G>A		No	ClinGen gnomAD
rs761925992 CA7174770	985	G>S		No	ClinGen ExAC TOPMed gnomAD
rs771825020 CA7174768	989	P>S		No	ClinGen ExAC gnomAD
CA7174767 rs759519377	990	E>D		No	ClinGen ExAC gnomAD
CA7174766 rs377083463	992	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA260665824 rs377083463	992	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs374009933 CA7174764	994	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs777307504 CA7174763	997	I>V		No	ClinGen ExAC gnomAD
rs1485372239 CA389612569	999	I>V		No	ClinGen TOPMed gnomAD
CA389612554 rs1198697162	1000	C>Y		No	ClinGen TOPMed
TCGA novel	1001	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs941365726 CA260665806	1001	A>V		No	ClinGen Ensembl
CA389612498 rs1344830849	1003	Y>*		No	ClinGen gnomAD
rs143624357 CA7174762	1004	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1594714331 CA389612484	1004	T>I		No	ClinGen Ensembl
rs375963447 CA7174761	1007	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs955479027 CA260665770	1008	N>Y		No	ClinGen gnomAD
CA7174747 rs774280041	1011	Y>C		No	ClinGen ExAC gnomAD
CA7174745 rs762788295	1012	K>Q		No	ClinGen ExAC gnomAD
rs1566643309 CA389612242	1014	K>R		No	ClinGen Ensembl
rs969728048 CA260665671	1016	T>S		No	ClinGen Ensembl
rs1231416868 CA389612167	1019	V>M		No	ClinGen TOPMed gnomAD
rs1428302016 CA389612153	1020	Q>*		No	ClinGen gnomAD
rs1417749990 CA389612131	1021	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	1022	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772970976 CA7174721	1025	A>V		No	ClinGen ExAC gnomAD
CA260665492 rs865802326	1026	A>T		No	ClinGen Ensembl
CA389611960 rs1594713568	1026	A>V		No	ClinGen Ensembl
CA389611070 rs1391383940	1029	A>V		No	ClinGen gnomAD
CA7174716 CA389610941 rs192550021	1034	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389610959 rs1448007352	1034	M>L		No	ClinGen gnomAD
CA7174717 rs768480680	1034	M>T		No	ClinGen ExAC gnomAD
CA7174715 rs188828470	1035	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7174713 rs746410310	1036	S>A		No	ClinGen ExAC gnomAD
rs367709510 CA7174712	1036	S>F		No	ClinGen ESP ExAC gnomAD
rs757334319 CA7174711	1037	K>R		No	ClinGen ExAC TOPMed gnomAD
rs533718357 CA389610822	1039	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7174710 rs533718357	1039	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs985774635 CA260665445	1040	T>I		No	ClinGen TOPMed gnomAD
CA389610816 rs985774635	1040	T>K		No	ClinGen TOPMed gnomAD
CA389610789 rs1202050412	1041	A>G		No	ClinGen gnomAD
TCGA novel	1044	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA260665429 rs910451770	1046	L>S		No	ClinGen Ensembl
rs1446003588 CA389610658	1046	L>V		No	ClinGen TOPMed
CA389610616 rs1306805503	1047	F>L		No	ClinGen TOPMed
CA7174707 rs756397264	1047	F>L		No	ClinGen ExAC gnomAD
rs1315146260 CA389610608	1048	R>C		No	ClinGen gnomAD
CA7174706 rs752834822	1048	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA389610585 rs1241461482 COSM3690083	1049	S>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1210712056 CA389610563	1050	V>A		No	ClinGen gnomAD
rs147005875 CA7174704	1050	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs147005875 CA389610568	1050	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA389610421 rs1265506198	1053	T>I		No	ClinGen gnomAD
rs750242922 CA7174683	1054	D>G		No	ClinGen ExAC gnomAD
rs1290232152 CA389610344	1056	S>P		No	ClinGen gnomAD
CA389610282 rs1212099232	1059	I>F		No	ClinGen gnomAD
rs1487646844 CA389610231	1061	G>D		No	ClinGen TOPMed
rs1357534492 CA389610183	1064	K>Q		No	ClinGen gnomAD
rs1184234661 CA389610142	1065	V>M		No	ClinGen TOPMed
CA260665171 rs879309624	1067	A>T		No	ClinGen Ensembl
CA7174679 rs753802462	1067	A>V		No	ClinGen ExAC gnomAD
rs763720420 CA7174678	1069	N>S		No	ClinGen ExAC gnomAD
rs374211480 CA260665148	1070	L>F		No	ClinGen ESP
CA260665143 rs1026491339	1071	L>V		No	ClinGen gnomAD
CA389609992 rs1426711060	1072	N>H		No	ClinGen TOPMed
CA389609969 rs1321540195	1073	V>I		No	ClinGen gnomAD
TCGA novel	1075	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1167096923 CA389609856	1077	K>L		No	ClinGen gnomAD
rs752399876 CA7174676	1077	K>Q		No	ClinGen ExAC gnomAD

1 associated diseases with O60524

[MIM: 619099]: Intellectual developmental disorder with speech delay and axonal peripheral neuropathy (IDDSAPN)

An autosomal recessive disorder characterized by mild global developmental delay, mild to moderate intellectual disability, motor impairment, unsteady or ataxic gait, and severe speech delay apparent in the first years of life. Signs of a peripheral axonal neuropathy, including progressive distal muscle weakness and atrophy of the lower limbs, foot and hand deformities, and dysarthria, are observed in most patients. Some patients may have autistic features or attention deficit-hyperactivity disorder. {ECO:0000269|PubMed:27431290, ECO:0000269|PubMed:32934225, ECO:0000269|PubMed:33048237}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive disorder characterized by mild global developmental delay, mild to moderate intellectual disability, motor impairment, unsteady or ataxic gait, and severe speech delay apparent in the first years of life. Signs of a peripheral axonal neuropathy, including progressive distal muscle weakness and atrophy of the lower limbs, foot and hand deformities, and dysarthria, are observed in most patients. Some patients may have autistic features or attention deficit-hyperactivity disorder. {ECO:0000269|PubMed:27431290, ECO:0000269|PubMed:32934225, ECO:0000269|PubMed:33048237}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for O60524

Type	Name	Position	InterPro Accession
domain	Trichohyalin-plectin-homology domain	143 - 480	IPR043597

Functions

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

3 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.
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.
RQC complex	A multiprotein complex that forms a stable complex with large ribosomal subunits (60S in eukaryotes and 50S in prokaryotes) containing stalled polypeptides and triggers their degradation (ribosomal quality control). In budding yeast, this complex includes Cdc48p, Rkr1p, Tae2p, Rqc1p, Npl4p and Ufd1p proteins.

2 GO annotations of molecular function

Name	Definition
ribosomal large subunit binding	Binding to a large ribosomal subunit.
tRNA binding	Binding to a transfer RNA.

5 GO annotations of biological process

Name	Definition
CAT tailing	The C-terminal elongation of 60S-anchored stalled nascent polypeptide chains with untemplated alanine and threonine tails (CAT tails). CAT tails participate in the recognition of stalled nascent chains by the ribosome quality control sytem.
nuclear export	The directed movement of substances out of the nucleus.
protein-containing complex assembly	The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex.
rescue of stalled ribosome	A process of translational elongation that takes place when a ribosome has stalled during translation, and results in freeing the ribosome from the stalled translation complex.
ribosome-associated ubiquitin-dependent protein catabolic process	The chemical reactions and pathways resulting in the breakdown of a protein or peptide encoded by an aberrant message and associated with a stalled ribosome. Degradation is initiated by the covalent attachment of a ubiquitin group, or multiple ubiquitin groups, to the ribosome-associated protein.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9VBX1	Clbn	Ribosome quality control complex subunit NEMF homolog	Drosophila melanogaster (Fruit fly)	PR
Q8CCP0	Nemf	Ribosome quality control complex subunit NEMF	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MKSRFSTIDL	RAVLAELNAS	LLGMRVNNVY	DVDNKTYLIR	LQKPDFKATL	LLESGIRIHT
70	80	90	100	110	120
TEFEWPKNMM	PSSFAMKCRK	HLKSRRLVSA	KQLGVDRIVD	FQFGSDEAAY	HLIIELYDRG
130	140	150	160	170	180
NIVLTDYEYV	ILNILRFRTD	EADDVKFAVR	ERYPLDHARA	AEPLLTLERL	TEIVASAPKG
190	200	210	220	230	240
ELLKRVLNPL	LPYGPALIEH	CLLENGFSGN	VKVDEKLETK	DIEKVLVSLQ	KAEDYMKTTS
250	260	270	280	290	300
NFSGKGYIIQ	KREIKPSLEA	DKPVEDILTY	EEFHPFLFSQ	HSQCPYIEFE	SFDKAVDEFY
310	320	330	340	350	360
SKIEGQKIDL	KALQQEKQAL	KKLDNVRKDH	ENRLEALQQA	QEIDKLKGEL	IEMNLQIVDR
370	380	390	400	410	420
AIQVVRSALA	NQIDWTEIGL	IVKEAQAQGD	PVASAIKELK	LQTNHVTMLL	RNPYLLSEEE
430	440	450	460	470	480
DDDVDGDVNV	EKNETEPPKG	KKKKQKNKQL	QKPQKNKPLL	VDVDLSLSAY	ANAKKYYDHK
490	500	510	520	530	540
RYAAKKTQKT	VEAAEKAFKS	AEKKTKQTLK	EVQTVTSIQK	ARKVYWFEKF	LWFISSENYL
550	560	570	580	590	600
IIGGRDQQQN	EIIVKRYLTP	GDIYVHADLH	GATSCVIKNP	TGEPIPPRTL	TEAGTMALCY
610	620	630	640	650	660
SAAWDARVIT	SAWWVYHHQV	SKTAPTGEYL	TTGSFMIRGK	KNFLPPSYLM	MGFSFLFKVD
670	680	690	700	710	720
ESCVWRHQGE	RKVRVQDEDM	ETLASCTSEL	ISEEMEQLDG	GDTSSDEDKE	EHETPVEVEL
730	740	750	760	770	780
MTQVDQEDIT	LQSGRDELNE	ELIQEESSED	EGEYEEVRKD	QDSVGEMKDE	GEETLNYPDT
790	800	810	820	830	840
TIDLSHLQPQ	RSIQKLASKE	ESSNSSDSKS	QSRRHLSAKE	RREMKKKKLP	SDSGDLEALE
850	860	870	880	890	900
GKDKEKESTV	HIETHQNTSK	NVAAVQPMKR	GQKSKMKKMK	EKYKDQDEED	RELIMKLLGS
910	920	930	940	950	960
AGSNKEEKGK	KGKKGKTKDE	PVKKQPQKPR	GGQRVSDNIK	KETPFLEVIT	HELQDFAVDD
970	980	990	1000	1010	1020
PHDDKEEQDL	DQQGNEENLF	DSLTGQPHPE	DVLLFAIPIC	APYTTMTNYK	YKVKLTPGVQ
1030	1040	1050	1060	1070
KKGKAAKTAL	NSFMHSKEAT	AREKDLFRSV	KDTDLSRNIP	GKVKVSAPNL	LNVKRK