AiPD: Autoinhibited Protein Database

O15381

Gene name	NVL
Protein name	Nuclear valosin-containing protein-like
Names	NVLp, Nuclear VCP-like protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4931
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

41-272 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

41-272 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

3 structures for O15381

Entry ID	Method	Resolution	Chain	Position	Source
2X8A	X-ray	260 A	A	574-845	PDB
6RO1	X-ray	307 A	B	167-216	PDB
AF-O15381-F1	Predicted				AlphaFoldDB

618 variants for O15381

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA1414603 rs756422352	2	K>T		No	ClinGen ExAC gnomAD
CA1414602 rs138268824	3	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1414601 rs138268824	3	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA38451292 rs917656646	3	P>S		No	ClinGen TOPMed
CA344707095 rs1317948604	4	R>G		No	ClinGen gnomAD
CA38451284 rs370596625	5	P>L		No	ClinGen ESP TOPMed
CA1414599 rs532380126	6	A>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1159208114 CA344707059	6	A>V		No	ClinGen gnomAD
rs150333766 CA1414597	7	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150333766 CA1414598	7	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs909775101 CA38451241	8	F>L		No	ClinGen gnomAD
CA344707042 rs1156675515	8	F>S		No	ClinGen TOPMed
CA38451254 rs909775101	8	F>V		No	ClinGen gnomAD
rs1190594628 CA344707035	9	V>L		No	ClinGen gnomAD
CA344707025 rs748035238	10	D>E		No	ClinGen ExAC TOPMed gnomAD
rs771604854 CA1414592	10	D>G		No	ClinGen ExAC gnomAD
rs772961167 CA1414594	10	D>N		No	ClinGen ExAC gnomAD
rs772961167 CA1414593	10	D>Y		No	ClinGen ExAC gnomAD
rs1261839979 CA344707017	11	N>K		No	ClinGen gnomAD
rs866327679 CA38451221	13	L>I		No	ClinGen Ensembl
CA1414590 rs778502158	13	L>R		No	ClinGen ExAC gnomAD
rs185167238 CA1414589	14	K>*		No	ClinGen 1000Genomes ExAC gnomAD
COSM3689376 rs749185581 CA1414588	16	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1328424986 CA344706986	16	R>P		No	ClinGen gnomAD
rs756301656 CA1414586	17	V>L		No	ClinGen ExAC gnomAD
CA38451214 rs1010929637	18	I>V		No	ClinGen gnomAD
CA1414584 rs781532764	19	Q>E		No	ClinGen ExAC gnomAD
rs757418898 CA1414583	19	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA344723288 rs1212525865	22	T>A		No	ClinGen TOPMed
TCGA novel	22	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1272024137 CA344723286	22	T>N		No	ClinGen TOPMed
CA344723289 rs1212525865	22	T>P		No	ClinGen TOPMed
CA1414567 rs746009895	23	S>G		No	ClinGen ExAC gnomAD
TCGA novel	25	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1414566 rs781068530	28	K>T		No	ClinGen ExAC gnomAD
rs1483889537 CA529124517	29	Y>*		No	ClinGen gnomAD
CA344723232 rs1160783912	29	Y>*		No	ClinGen gnomAD
rs374237316 CA1414565	32	I>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs374237316 CA344723213	32	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA1414564 rs201633430	34	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1414563 rs201633430	34	V>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1186110563 CA344723200	35	L>V		No	ClinGen gnomAD
CA38487213 rs896029248	36	A>V		No	ClinGen gnomAD
rs753042123 CA1414561	37	S>A		No	ClinGen ExAC gnomAD
CA38487184 rs112715810	41	R>G		No	ClinGen Ensembl
rs1476677736 CA344723153	42	V>L		No	ClinGen TOPMed
rs1351033365 CA344722173	45	I>V		No	ClinGen gnomAD
CA1414546 rs770877050	47	Y>C		No	ClinGen ExAC gnomAD
rs778022844 CA1414544	48	G>S		No	ClinGen ExAC gnomAD
rs758609557 CA1414543	48	G>V		No	ClinGen ExAC gnomAD
COSM904504 rs748581297 CA1414542	49	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs541886599 CA38480817	49	R>P		No	ClinGen gnomAD
rs541886599 CA344722128	49	R>Q		No	ClinGen gnomAD
rs1553337362 CA1414540	52	R>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA1414539 rs779188594	53	N>K		No	ClinGen ExAC gnomAD
CA344722049 rs1402992829	56	R>K		No	ClinGen gnomAD
rs755495436 CA1414538	57	I>T		No	ClinGen ExAC gnomAD
CA1414536 rs766874055	59	V>E		No	ClinGen ExAC gnomAD
CA1414537 COSM1491948 rs754254646	59	V>I	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	62	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	62	V>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344721903 rs1256408419	66	I>S		No	ClinGen gnomAD
rs188734539 CA1414523	66	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1383382504 CA344721866	69	E>G		No	ClinGen TOPMed
CA1414521 rs748317809	71	E>G		No	ClinGen ExAC TOPMed gnomAD
rs772289099 CA1414522	71	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1297312869 CA344721832	72	L>R		No	ClinGen TOPMed gnomAD
CA344721838 rs1463345676	72	L>V		No	ClinGen gnomAD
CA38480673 rs148207074	73	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA
CA38480675 rs952565194	73	K>T		No	ClinGen TOPMed
TCGA novel	77	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1381422700 CA344721789	77	E>Q		No	ClinGen gnomAD
CA1414520 rs200417559	80	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1418925600 CA344721756	80	D>Y		No	ClinGen TOPMed gnomAD
rs981941431 CA344721750	81	E>*		No	ClinGen TOPMed gnomAD
rs981941431 CA38480666	81	E>K		No	ClinGen TOPMed gnomAD
CA38480664 rs368763094	82	H>Y		No	ClinGen ESP TOPMed gnomAD
TCGA novel	86	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755334742 CA1414518	86	R>S		No	ClinGen ExAC TOPMed gnomAD
rs749637734 CA1414517	87	A>S		No	ClinGen ExAC gnomAD
rs1181796378 CA344721694	89	Q>R		No	ClinGen gnomAD
rs973488620 CA38480626	90	G>D		No	ClinGen TOPMed
rs756639255 CA1414515	92	E>K		No	ClinGen ExAC gnomAD
TCGA novel	96	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774408900 CA1414473	98	E>K		No	ClinGen ExAC TOPMed gnomAD
CA1414472 COSM210128 rs768765566	99	S>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA344720807 rs1216415436	100	Y>S		No	ClinGen Ensembl
rs1443362172 CA344720766	103	D>E		No	ClinGen gnomAD
CA344720771 rs1212813346	103	D>G		No	ClinGen TOPMed gnomAD
CA344720774 rs1159431356	103	D>H		No	ClinGen TOPMed
rs141925881 CA1414471	104	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA1414470 rs775738426	107	M>I		No	ClinGen ExAC gnomAD
rs1203357561 CA344720724	107	M>V		No	ClinGen gnomAD
CA344720702 rs1319760507	108	E>D		No	ClinGen TOPMed
rs770158104 CA1414469	109	D>N		No	ClinGen ExAC gnomAD
rs746204972 CA344720680	110	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA1414468 rs746204972	110	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs771554968 CA1414466	112	D>H		No	ClinGen ExAC gnomAD
rs1015464671 CA38476425	113	P>L		No	ClinGen Ensembl
CA38473830 rs915096910	116	A>T		No	ClinGen TOPMed gnomAD
rs1240894569 CA344720129	119	M>R		No	ClinGen TOPMed
rs1572027339 CA344720109	121	S>G		No	ClinGen Ensembl
CA1414446 rs768250156	121	S>T		No	ClinGen ExAC TOPMed gnomAD
CA344720074 rs1157532796	124	L>M		No	ClinGen TOPMed gnomAD
CA344720060 rs1473777774	125	S>C		No	ClinGen gnomAD
rs1558341628 CA344720048	126	L>F		No	ClinGen Ensembl
rs374945513 CA1414442	127	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs377133784 CA1414443	127	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1414441 rs200984793	128	R>G		No	ClinGen ExAC TOPMed gnomAD
CA344720034 rs149707008	128	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1414439 rs149707008	128	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM904501 CA1414440 rs200984793	128	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs763909063 CA1414437	129	K>E		No	ClinGen ExAC gnomAD
CA1414436 rs758554937	131	N>D		No	ClinGen ExAC gnomAD
rs144983418 CA38473737 COSM110411	132	P>L	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1378925555 CA344719991	133	D>N		No	ClinGen TOPMed
CA1414435 rs200499785	135	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1414434 rs188779693	138	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1414433 rs759770026	139	P>T		No	ClinGen ExAC gnomAD
rs1293700540 CA344719918	140	E>D		No	ClinGen gnomAD
rs574344034 CA38473696	141	M>I		No	ClinGen Ensembl
CA1414432 rs777150957	142	E>K		No	ClinGen ExAC gnomAD
CA1414431 rs766803293	144	R>G		No	ClinGen ExAC TOPMed gnomAD
rs761086616 CA1414430	144	R>K		No	ClinGen ExAC gnomAD
CA344719861 rs1459271567	146	T>A		No	ClinGen gnomAD
CA38473665 rs922621173	146	T>S		No	ClinGen TOPMed
CA1414429 rs182870329	147	T>S		No	ClinGen 1000Genomes ExAC gnomAD
CA344719842 rs1176123753	148	S>Y		No	ClinGen gnomAD
CA344719832 rs1301808785	149	S>*		No	ClinGen TOPMed
rs1397089571 CA344719822	150	T>I		No	ClinGen TOPMed
rs772440453 CA1414428	151	P>R		No	ClinGen ExAC gnomAD
rs61729123 CA1414426	152	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1414427 rs748891622 COSM904500	152	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs745472011 CA1414424	153	I>V		No	ClinGen ExAC gnomAD
CA38473652 rs780994203	155	S>F		No	ClinGen ExAC gnomAD
CA1414423 rs780994203	155	S>Y		No	ClinGen ExAC gnomAD
CA1414422 rs757085359	156	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs746760463 CA1414421	158	G>A		No	ClinGen ExAC gnomAD
rs746760463 CA344719746	158	G>V		No	ClinGen ExAC gnomAD
rs1304487044 CA344719737	159	S>C		No	ClinGen TOPMed
rs866683945 CA38473636	161	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA1414418 rs752831124	164	T>N		No	ClinGen ExAC gnomAD
CA344719689 rs1301583930	164	T>S		No	ClinGen gnomAD
rs765354087 CA1414417	165	P>T		No	ClinGen ExAC gnomAD
CA344719650 rs1299141965	168	D>Y		No	ClinGen gnomAD
rs755275927 CA1414416	170	E>A		No	ClinGen ExAC gnomAD
CA1414415 rs537722770 COSM212328	172	G>E	pancreas breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA344719592 rs1464861745	173	W>*		No	ClinGen TOPMed gnomAD
CA1414413 rs761157002	179	P>A		No	ClinGen ExAC gnomAD
TCGA novel	180	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768070218 CA1414411	180	S>N		No	ClinGen ExAC gnomAD
rs377757688 CA344719513	180	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs750744570 CA1414412	180	S>R		No	ClinGen ExAC gnomAD
CA1414409 rs775003153	182	K>E		No	ClinGen ExAC gnomAD
CA344719462 rs1198624552	184	D>E		No	ClinGen gnomAD
CA344719468 rs1375953786	184	D>H		No	ClinGen gnomAD
TCGA novel	184	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1484126860 CA344719457	185	S>C		No	ClinGen gnomAD
CA344719453 rs1289262815	185	S>N		No	ClinGen TOPMed gnomAD
TCGA novel	187	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344719400 rs1572026279	189	D>A		No	ClinGen Ensembl
CA344719402 rs1318610991	189	D>Y		No	ClinGen Ensembl
rs1256348949 CA344719366	192	C>Y		No	ClinGen gnomAD
CA344719335 rs1353665760	193	E>V		No	ClinGen gnomAD
rs759014463 CA1414407	195	S>N		No	ClinGen ExAC gnomAD
rs1276228183 CA344719293	195	S>R		No	ClinGen gnomAD
rs1033454331 CA38473533	196	N>S		No	ClinGen TOPMed gnomAD
CA344719259 rs776316720	197	P>H		No	ClinGen ExAC TOPMed gnomAD
CA1414406 rs776316720	197	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA344719257 rs776316720	197	P>R		No	ClinGen ExAC TOPMed gnomAD
CA344719210 rs1381854775	200	P>S		No	ClinGen gnomAD
CA1414403 rs35056350	201	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1558340615 CA344719135	204	I>M		No	ClinGen Ensembl
rs35095827 CA1414402	204	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777473962 CA38471022	206	D>G		No	ClinGen Ensembl
rs746485148 CA1414382	206	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1158246270 CA344718929	209	D>A		No	ClinGen gnomAD
CA344718933 rs1425971380	209	D>Y		No	ClinGen TOPMed
rs1572016065 CA344718913	210	S>C		No	ClinGen Ensembl
CA344718693 rs1471505454 COSM414609	211	S>C	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA1414381 rs768706831	214	E>D		No	ClinGen ExAC gnomAD
rs1161204166 CA344718633	217	M>V		No	ClinGen TOPMed
rs769271430 CA38471016	218	K>Q		No	ClinGen gnomAD
CA1414379 rs780221566	219	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs185890200 CA1414380	219	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1414377 rs746035108	221	G>D		No	ClinGen ExAC TOPMed gnomAD
CA1414376 rs201576372	222	K>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757609902 CA1414375	224	K>N		No	ClinGen ExAC gnomAD
CA1414373 rs764652291	225	N>K		No	ClinGen ExAC gnomAD
CA1414374 rs751909298	225	N>S		No	ClinGen ExAC TOPMed gnomAD
rs376072933 CA1414371	226	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1330729491 CA344718499	229	K>E		No	ClinGen gnomAD
TCGA novel	230	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	231	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1414370 rs372647069	233	E>*		No	ClinGen ESP ExAC gnomAD
CA344718437 rs1319136880	234	D>N		No	ClinGen TOPMed gnomAD
CA1414369 rs138739288	234	D>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1414368 rs772783443	235	L>F		No	ClinGen ExAC gnomAD
rs1558335979 CA344718420	235	L>H		No	ClinGen Ensembl
rs1289761184 CA344718390	238	V>A		No	ClinGen TOPMed
rs1232910689 CA344718355	242	I>V		No	ClinGen TOPMed gnomAD
CA344718331 rs1159618075	244	A>P		No	ClinGen gnomAD
rs1477523323 CA344718321	245	V>I		No	ClinGen gnomAD
CA1414365 rs774221127	246	L>V		No	ClinGen ExAC TOPMed gnomAD
rs116571578 CA344718294	247	Q>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs116571578 CA1414363	247	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	248	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1208698117 CA344718283	248	K>R		No	ClinGen gnomAD
CA344718175 rs1202437958	254	G>E		No	ClinGen gnomAD
TCGA novel	255	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344718159 rs1274084265	256	E>K		No	ClinGen gnomAD
CA38470747 rs960001855	258	Q>H		No	ClinGen Ensembl
rs1226288965 CA344718121	258	Q>L		No	ClinGen gnomAD
rs866184955 CA38470739	260	S>F		No	ClinGen Ensembl
rs1367358147 CA344718103	260	S>T		No	ClinGen gnomAD
CA344718085 rs1298274863	261	N>S		No	ClinGen gnomAD
rs202032588 CA1414347	262	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344718066 rs1335935887	263	K>E		No	ClinGen gnomAD
CA1414345 rs762808272	266	D>N		No	ClinGen ExAC gnomAD
CA1414342 rs746002412	269	G>D		No	ClinGen ExAC TOPMed gnomAD
rs769757437 CA1414343	269	G>S		No	ClinGen ExAC gnomAD
rs184833826 CA1414341	272	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1414339 rs747186340	275	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1291976673 CA344717806	281	L>F		No	ClinGen gnomAD
rs368159089 CA1414317	282	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
COSM210127 CA1414316 rs772843150	285	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA1414315 rs143693597	285	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1414312 rs751101050	286	H>L		No	ClinGen ExAC gnomAD
CA1414313 rs751101050	286	H>P		No	ClinGen ExAC gnomAD
CA344717773 rs1350715412	286	H>Y		No	ClinGen gnomAD
rs752448705 CA1414309	287	P>L		No	ClinGen ExAC TOPMed gnomAD
CA1414310 rs758058823	287	P>T		No	ClinGen ExAC gnomAD
rs759424711 CA1414307	290	Y>C		No	ClinGen ExAC gnomAD
rs146061915 CA1414306	292	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1408992791 CA344717704	294	G>R		No	ClinGen TOPMed gnomAD
rs1408992791 CA344717706	294	G>S		No	ClinGen TOPMed gnomAD
CA1414303 rs12084919 VAR_048109	295	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA344717676 rs776427245	297	P>H		No	ClinGen ExAC TOPMed gnomAD
CA1414301 rs776427245	297	P>R		No	ClinGen ExAC TOPMed gnomAD
CA1414300 rs375233840	298	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA38469901 rs375233840	298	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA344717664 rs769102708	299	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1414298 rs769102708	299	R>G		No	ClinGen ExAC TOPMed gnomAD
CA344717663 rs971565927	299	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA38469899 rs971565927	299	R>L		No	ClinGen TOPMed gnomAD
rs749592623 CA1414297	304	H>L		No	ClinGen ExAC TOPMed gnomAD
CA1414295 rs770420360	307	P>S		No	ClinGen ExAC gnomAD
CA344717527 rs1319053246	311	K>M		No	ClinGen gnomAD
CA1414293 rs777361742	312	T>I		No	ClinGen ExAC TOPMed gnomAD
rs142913195 CA344717472	316	H>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142913195 CA1414292	316	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	318	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1414289 rs754854441	318	I>V		No	ClinGen ExAC gnomAD
rs546354933 CA1414288	320	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA38467590 rs762401653	322	L>I		No	ClinGen Ensembl
rs1443089829 CA344716753	323	D>A		No	ClinGen gnomAD
CA1414255 rs765659709	325	P>L		No	ClinGen ExAC gnomAD
TCGA novel	325	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1319728218 CA344716707	326	I>V		No	ClinGen gnomAD
CA344716685 rs1386803043	327	L>S		No	ClinGen gnomAD
CA344716652 rs1473008331	329	V>L		No	ClinGen gnomAD
CA1414254 rs759951346	330	A>S		No	ClinGen ExAC gnomAD
CA1414253 rs201749970	331	A>G		No	ClinGen ExAC gnomAD
CA38467560 rs572448581	332	P>T		No	ClinGen 1000Genomes
rs768373064 CA1414249	334	I>V		No	ClinGen ExAC gnomAD
CA344716548 rs1256903011	335	V>A		No	ClinGen gnomAD
CA38467537 rs910098710	337	G>R		No	ClinGen TOPMed
CA38467536 rs1028194574	338	V>G		No	ClinGen Ensembl
rs1571999424 CA344716480	342	S>A		No	ClinGen Ensembl
CA1414244 rs781255885	344	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA1414245 rs138668303	344	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA1414243 rs757074799	349	L>R		No	ClinGen ExAC gnomAD
CA344716387 rs1236589816	351	E>K		No	ClinGen TOPMed gnomAD
rs1270632254 CA344715614 CA344715617	355	S>*		No	ClinGen TOPMed gnomAD
CA1414219 rs146483979	357	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA1414221 rs777736808	357	A>T		No	ClinGen ExAC gnomAD
rs146483979 CA1414220	357	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
VAR_015890	359	C>G		No	UniProt
rs1333790659 CA344715580	359	C>S		No	ClinGen TOPMed gnomAD
rs377450954 CA1414218	360	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA344715548 rs1369475240	361	I>T		No	ClinGen gnomAD
rs754247655 CA1414216	363	I>V		No	ClinGen ExAC gnomAD
rs766608109 CA1414215	366	I>T		No	ClinGen ExAC gnomAD
CA344715465 rs1422275321	368	A>T		No	ClinGen gnomAD
CA1414214 rs199859247	369	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750938884 CA1414213	370	T>A		No	ClinGen ExAC gnomAD
rs750938884 CA344715445	370	T>P		No	ClinGen ExAC gnomAD
rs767995927 CA1414212	375	V>E		No	ClinGen ExAC gnomAD
TCGA novel	379	D>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1414210 rs774913075	382	R>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	388	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344715213 rs1439595372	390	T>A		No	ClinGen gnomAD
CA1414208 rs372427007	390	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA344715212 rs372427007	390	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1191069104 CA344715204	391	C>S		No	ClinGen TOPMed
rs776520900 CA1414207	393	D>N		No	ClinGen ExAC gnomAD
CA344715182 rs1233586590	393	D>V		No	ClinGen gnomAD
rs1349511072 CA344715177	394	D>N		No	ClinGen gnomAD
rs757749584 CA1414192	400	A>G		No	ClinGen ExAC gnomAD
CA1414193 rs768081420	400	A>T		No	ClinGen ExAC gnomAD
rs1571978801 CA344714881	401	T>I		No	ClinGen Ensembl
rs1157253197 CA344714849	403	R>Q		No	ClinGen TOPMed gnomAD
rs549802292 CA1414191	403	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1190698630 CA344714837	404	V>G		No	ClinGen gnomAD
rs34631151 CA1414189 VAR_048110	404	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs34631151 CA344714846	404	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776169583 CA38458814	408	G>E		No	ClinGen ExAC TOPMed gnomAD
rs776169583 CA1414188	408	G>V		No	ClinGen ExAC TOPMed gnomAD
rs765996353 CA344714747	410	T>I		No	ClinGen ExAC gnomAD
rs765996353 CA1414186	410	T>N		No	ClinGen ExAC gnomAD
CA344714742 COSM904497 rs1467851571	411	N>D	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA1414184 rs773133873	412	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1414185 rs773133873	412	R>G		No	ClinGen ExAC gnomAD
CA38458752 rs757319956	412	R>L		No	ClinGen TOPMed
CA38458757 rs757319956	412	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs772190566 CA1414182	413	P>R		No	ClinGen ExAC gnomAD
CA1414181 rs748073138	414	D>G		No	ClinGen ExAC gnomAD
CA344714700 rs1465971407	415	S>*		No	ClinGen TOPMed
CA1414178 rs201713614	416	L>*		No	ClinGen ExAC TOPMed gnomAD
rs1442248207 COSM1689909 CA344714677	417	D>E	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs376111723 CA1414177	422	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1414176 rs746278047 COSM246149	422	R>H	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs746278047 CA1414175	422	R>L		No	ClinGen ExAC TOPMed gnomAD
rs781514862 CA344714619	423	A>E		No	ClinGen ExAC TOPMed gnomAD
CA1414174 rs781514862	423	A>V		No	ClinGen ExAC TOPMed gnomAD
CA344714585 rs1396943068	426	F>S		No	ClinGen gnomAD
TCGA novel	427	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344714561 rs754458829	428	R>*		No	ClinGen ExAC gnomAD
rs753321668 CA1414169	428	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA344714507 rs1188061336	433	G>R		No	ClinGen gnomAD
rs376103318 CA38458636	434	I>V		No	ClinGen ESP gnomAD
rs1236565988 CA344714471	436	D>E		No	ClinGen gnomAD
rs766011486 CA1414168	439	S>C		No	ClinGen ExAC gnomAD
CA1414151 rs747315495	443	I>V		No	ClinGen ExAC gnomAD
TCGA novel	444	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1394361154 CA344713916	444	L>P		No	ClinGen gnomAD
rs972036348 CA38454758	447	L>F		No	ClinGen TOPMed
rs1462431232 CA344713868	447	L>S		No	ClinGen gnomAD
rs1393534744 CA344713816	450	K>R		No	ClinGen gnomAD
CA1414149 rs747880576	451	L>YV*		No	ClinGen ExAC
rs778254320 CA1414150	452	R>W		No	ClinGen ExAC TOPMed gnomAD
rs758937157 CA1414147	454	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1180947943 CA344713759	454	P>S		No	ClinGen gnomAD
rs753343821 CA1414146	455	Q>E		No	ClinGen ExAC gnomAD
rs779589900 CA344713744	455	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs779589900 CA1414145	455	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs755757900 COSM425421 CA1414144	456	A>T	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA344713696 rs1212215529	458	D>Y		No	ClinGen gnomAD
rs1337356203 CA344713654	460	C>G		No	ClinGen gnomAD
CA344713629 rs1571961439	461	H>R		No	ClinGen Ensembl
rs750125811 CA1414143	464	H>R		No	ClinGen ExAC TOPMed gnomAD
COSM1601700 rs746255336 CA1414142	465	L>V	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs761708058 CA1414141	466	T>S		No	ClinGen ExAC gnomAD
CA1414140 rs751397692	468	G>V		No	ClinGen ExAC
rs374779596 CA1414138	470	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA38454657 rs112890149	472	A>S		No	ClinGen Ensembl
rs1344594414 CA344713463	472	A>V		No	ClinGen TOPMed
CA344713451 rs1462841736	474	L>I		No	ClinGen gnomAD
TCGA novel	474	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344713439 rs1400408901	475	M>V		No	ClinGen TOPMed
rs781353254 CA38454653	479	R>*		No	ClinGen TOPMed gnomAD
CA1414136 rs769948002	479	R>L		No	ClinGen ExAC TOPMed gnomAD
CA1414137 rs769948002	479	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1414135 rs759564036	481	A>T		No	ClinGen ExAC gnomAD
CA344713346 rs1192249775	483	M>T		No	ClinGen TOPMed gnomAD
CA344713350 rs1252955686	483	M>V		No	ClinGen TOPMed gnomAD
rs1254018411 CA344713324	484	C>W		No	ClinGen gnomAD
CA1414132 rs199638209	484	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778183674 CA1414131	485	A>T		No	ClinGen ExAC gnomAD
rs986157970 CA38454585	487	N>D		No	ClinGen gnomAD
rs373000328 CA1414129	487	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	490	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1264798875 CA344713247	491	M>I		No	ClinGen TOPMed
rs1370742074 COSM904495 CA344713206	495	E>K	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1439050670 CA344713194	496	Q>E		No	ClinGen TOPMed gnomAD
CA38454560 rs935967653	497	Q>R		No	ClinGen Ensembl
rs139575589 CA1414127	501	P>R		No	ClinGen ESP ExAC gnomAD
rs749890415 CA1414125	505	D>E		No	ClinGen ExAC TOPMed gnomAD
CA1414123 rs781060160	507	P>L		No	ClinGen ExAC
CA38454493 rs757511937	511	V>F		No	ClinGen Ensembl
rs200066624 CA38454488	511	V>G		No	ClinGen TOPMed
rs967997824 CA38454486	512	Q>H		No	ClinGen Ensembl
CA1414121 rs751450518	515	R>G		No	ClinGen ExAC gnomAD
CA1414120 rs141166869	515	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA344712906 rs1378661578	517	G>E		No	ClinGen gnomAD
CA1414119 rs758088142	518	T>N		No	ClinGen ExAC TOPMed gnomAD
rs765025745 CA1414117	520	P>L		No	ClinGen ExAC gnomAD
CA1414116 rs201616896	521	T>A		No	ClinGen ExAC TOPMed gnomAD
CA344712809 rs1485410085	524	T>I		No	ClinGen TOPMed gnomAD
rs766412688 CA1414092	530	R>S		No	ClinGen ExAC gnomAD
TCGA novel	532	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773501407 CA38453312	532	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs773501407 CA1414090	532	L>R		No	ClinGen ExAC TOPMed gnomAD
rs202007160 CA1414089	534	L>*		No	ClinGen ExAC TOPMed gnomAD
rs1558308683 CA344712185	536	R>S		No	ClinGen Ensembl
rs1328826678 CA344712128	541	L>V		No	ClinGen gnomAD
rs368441092 CA1414088	543	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	544	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344712051 rs932286844	546	M>K		No	ClinGen TOPMed gnomAD
rs932286844 CA38453281	546	M>T		No	ClinGen TOPMed gnomAD
CA1414087 rs774568676	547	Q>R		No	ClinGen ExAC gnomAD
rs756362376 CA38453270	548	G>R		No	ClinGen Ensembl
CA344712017 rs1461187720	549	L>P		No	ClinGen gnomAD
rs769336839 CA1414086	550	C>Y		No	ClinGen ExAC
CA1414085 rs143207798	551	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA344711968 rs1190268368	554	N>D		No	ClinGen gnomAD
CA1414084 rs776100750	557	I>T		No	ClinGen ExAC TOPMed gnomAD
CA1414082 rs746445908	560	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1279222448 CA344711853	564	Q>P		No	ClinGen gnomAD
CA1414079 rs748032835	567	A>D		No	ClinGen ExAC gnomAD
CA1414078 rs778654546	571	G>D		No	ClinGen ExAC gnomAD
CA344711766 rs1228508966	572	F>L		No	ClinGen gnomAD
rs1372068083 CA344711743	574	T>A		No	ClinGen gnomAD
CA1414077 rs754945868	578	V>G		No	ClinGen ExAC gnomAD
rs201811533 CA38453231	579	T>I		No	ClinGen Ensembl
CA344711657 rs753800587	582	D>G		No	ClinGen ExAC TOPMed gnomAD
CA344711663 rs1332580993	582	D>N		No	ClinGen gnomAD
rs753800587 CA1414076	582	D>V		No	ClinGen ExAC TOPMed gnomAD
CA1414075 rs779914340	588	D>V		No	ClinGen ExAC TOPMed gnomAD
CA1414074 rs756226427	590	R>K		No	ClinGen ExAC gnomAD
rs1406165211 CA344711516	592	E>D		No	ClinGen TOPMed gnomAD
rs1408182002 CA344711508	593	L>V		No	ClinGen TOPMed gnomAD
CA344711482 rs1471178438	595	M>I		No	ClinGen gnomAD
CA1414073 rs750469349	595	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1010228282 CA38453214	596	A>T		No	ClinGen TOPMed
CA38453208 rs891825511	596	A>V		No	ClinGen TOPMed
rs1283647706 CA344711457	597	I>M		No	ClinGen Ensembl
CA1414051 rs751853764	599	A>V		No	ClinGen ExAC TOPMed gnomAD
rs764354516 CA1414050	601	V>I		No	ClinGen ExAC TOPMed gnomAD
rs763414115 CA1414049	602	R>C		No	ClinGen ExAC TOPMed gnomAD
CA344711324 rs763414115	602	R>G		No	ClinGen ExAC TOPMed gnomAD
rs753106429 CA1414048	602	R>H		No	ClinGen ExAC TOPMed gnomAD
rs753106429 CA344711319	602	R>L		No	ClinGen ExAC TOPMed gnomAD
CA344711325 rs763414115	602	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1312369652 CA344711309	603	N>S		No	ClinGen gnomAD
CA1414046 rs759937562	604	P>T		No	ClinGen ExAC gnomAD
CA344711294 rs1571949605	605	D>N		No	ClinGen Ensembl
rs545701394 CA1414044	606	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
CA344711247 rs1473333807	608	K>R		No	ClinGen gnomAD
CA344711237 rs1252087274	609	A>S		No	ClinGen TOPMed gnomAD
CA344711211 rs1265152083	611	G>V		No	ClinGen TOPMed
CA344711206 rs1432560641	612	L>S		No	ClinGen TOPMed
rs768296314 CA1414041	615	P>L		No	ClinGen ExAC gnomAD
CA1414042 rs774002053	615	P>S		No	ClinGen ExAC TOPMed gnomAD
CA1414040 rs749142618	618	V>I		No	ClinGen ExAC gnomAD
CA344711126 rs1427598245	620	L>V		No	ClinGen TOPMed
rs1307354834 CA344711091	623	P>L		No	ClinGen gnomAD
rs556124314 CA344711094	623	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs556124314 CA1414038	623	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA38452046 rs375520661	625	G>V		No	ClinGen ESP
CA1414037 rs745825009	626	C>R		No	ClinGen ExAC gnomAD
CA344710996 rs1413031993	632	A>E		No	ClinGen TOPMed gnomAD
rs1413031993 CA344710993	632	A>V		No	ClinGen TOPMed gnomAD
rs151245412 CA1414014	637	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA1414011 rs758732725	640	G>A		No	ClinGen ExAC TOPMed gnomAD
CA38449256 rs758732725	640	G>E		No	ClinGen ExAC TOPMed gnomAD
rs777976394 CA1414012	640	G>R		No	ClinGen ExAC TOPMed gnomAD
CA1414009 rs370519985	642	N>D		No	ClinGen ESP ExAC gnomAD
rs755307913 CA1414008	642	N>S		No	ClinGen ExAC gnomAD
CA1414006 rs147736516	644	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1414005 rs147736516	644	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1240784406 CA344710554	645	S>P		No	ClinGen gnomAD
CA344710542 rs1370053866	647	K>E		No	ClinGen gnomAD
CA38449219 rs1036059304	647	K>N		No	ClinGen gnomAD
rs1474985425 CA344710539	647	K>R		No	ClinGen TOPMed
CA344710528 rs1458607832	649	P>A		No	ClinGen gnomAD
TCGA novel	650	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1414004 rs144521437	653	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	654	M>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344710465 rs1287872090	654	M>T		No	ClinGen gnomAD
rs958523399 CA38446887	655	Y>F		No	ClinGen TOPMed
CA38446885 rs868327976	659	S>I		No	ClinGen Ensembl
rs759203303 CA1413980	661	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1413978 rs766307554	663	V>G		No	ClinGen ExAC gnomAD
CA344708523 rs1278162011	663	V>M		No	ClinGen gnomAD
rs760493438 CA1413977	664	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA38446861 rs1003745185	665	Q>E		No	ClinGen TOPMed
TCGA novel	667	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA38446839 rs183678662	669	R>*		No	ClinGen 1000Genomes TOPMed gnomAD
rs561323445 CA1413975	669	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs967421031 CA38446830	671	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs149269387 CA344708364	671	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA344708359 rs774470691	672	N>D		No	ClinGen ExAC TOPMed gnomAD
CA1413973 rs774470691	672	N>H		No	ClinGen ExAC TOPMed gnomAD
CA344708300 rs1305744982	675	P>L		No	ClinGen TOPMed
CA344708298 rs1305744982	675	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA344708292 rs1348506236	676	C>R		No	ClinGen TOPMed
CA38446812 rs1009495118	678	I>L		No	ClinGen TOPMed
rs1403464363 CA344708265	678	I>T		No	ClinGen gnomAD
rs1167706235 COSM904492 CA344708256	679	F>L	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA1413971 rs369288815	683	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1389057103 CA344708182 COSM343558	684	D>V	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA1413969 rs770159077	686	L>V		No	ClinGen ExAC gnomAD
rs746165228 CA1413968	689	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA344708127 rs1189605352	689	R>Q		No	ClinGen TOPMed gnomAD
CA38446800 rs1053830445	693	R>*		No	ClinGen TOPMed gnomAD
CA38446790 rs376797399	693	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1413966 rs376797399	693	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA1413942 rs754525510	697	A>S		No	ClinGen ExAC gnomAD
CA1413941 rs754525510	697	A>T		No	ClinGen ExAC gnomAD
TCGA novel	699	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1571890072 CA344707401	699	V>I		No	ClinGen Ensembl
rs367715317 CA1413940	700	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA1413939 rs779916902	700	R>Q		No	ClinGen ExAC gnomAD
CA1413938 rs755811576	701	V>M		No	ClinGen ExAC gnomAD
rs925878628 CA38442472	703	N>S		No	ClinGen Ensembl
CA344707359 rs1192810693	706	L>P		No	ClinGen gnomAD
rs1476892394 CA344707356	707	T>P		No	ClinGen gnomAD
rs767454090 CA1413936	708	E>D		No	ClinGen ExAC
CA1413934 rs751531560	709	M>I		No	ClinGen ExAC TOPMed gnomAD
CA1413935 rs373578510	709	M>L		No	ClinGen ESP ExAC gnomAD
CA1413933 rs763872322	710	D>E		No	ClinGen ExAC gnomAD
rs1445989914 CA344707332	710	D>G		No	ClinGen gnomAD
rs1443346532 CA344707294	714	A>V		No	ClinGen TOPMed
rs775536853 CA1413931	717	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA344707261 rs1310576684	717	Q>L		No	ClinGen gnomAD
rs759721857 CA1413929	718	V>F		No	ClinGen ExAC gnomAD
CA344707251 rs1571889747	718	V>G		No	ClinGen Ensembl
rs776791758 CA1413928	721	M>R		No	ClinGen ExAC gnomAD
CA1413927 rs200199510	722	A>P		No	ClinGen ExAC gnomAD
rs1326016816 CA344707200	722	A>V		No	ClinGen gnomAD
rs1571889690 CA344707191	723	A>G		No	ClinGen Ensembl
CA1413924 rs148245753	727	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA344707149 rs1487588569	727	P>S		No	ClinGen gnomAD
rs1571889610 CA344707140	728	D>H		No	ClinGen Ensembl
rs199771667 CA1413878	732	P>S		No	ClinGen ExAC gnomAD
CA38476173 rs1055544851	737	P>S		No	ClinGen TOPMed gnomAD
CA344719180 rs1388135190	738	G>C		No	ClinGen gnomAD
rs765634292	745	F>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA1413873 rs199945670	746	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1413870 rs770658918	747	G>S		No	ClinGen ExAC gnomAD
rs746674528 CA1413869	749	P>L		No	ClinGen ExAC TOPMed gnomAD
CA1413867 rs571963590	750	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA1413866 rs571963590	750	P>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	750	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1193067768 CA344719025	752	A>T		No	ClinGen gnomAD
CA1413865 rs778885446 COSM1689908	754	R>C	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA1413864 rs754893559	754	R>H		No	ClinGen ExAC TOPMed gnomAD
CA344719001 rs1571827435	756	A>T		No	ClinGen Ensembl
rs753996402 CA1413863	757	I>V		No	ClinGen ExAC gnomAD
rs779964708 CA1413862	760	T>I		No	ClinGen ExAC gnomAD
CA344718934 rs1254039947	762	T>S		No	ClinGen gnomAD
rs1464888347 CA344718910	763	K>N		No	ClinGen TOPMed gnomAD
rs781625478 CA1413840	765	G>A		No	ClinGen ExAC TOPMed gnomAD
rs781625478 CA344716103	765	G>D		No	ClinGen ExAC TOPMed gnomAD
CA1413841 rs745959835	765	G>S		No	ClinGen ExAC gnomAD
CA1413839 rs752011815	769	P>L		No	ClinGen ExAC TOPMed gnomAD
rs752011815 CA1413838	769	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs758743396 CA1413836	770	L>P		No	ClinGen ExAC gnomAD
CA344716045 rs764585473	770	L>V		No	ClinGen ExAC TOPMed gnomAD
CA344716034 rs1366701836	771	D>N		No	ClinGen gnomAD
rs753155888 CA1413835	772	A>T		No	ClinGen ExAC gnomAD
CA344715999 rs1571769570	773	D>E		No	ClinGen Ensembl
TCGA novel	773	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1413834 rs765707473	774	V>L		No	ClinGen ExAC gnomAD
rs1237329085 CA344715956	776	L>F		No	ClinGen TOPMed gnomAD
CA344715929 rs1196466408	778	A>G		No	ClinGen gnomAD
CA1413833 rs76700603	779	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344715864 rs1208775137	783	L>F		No	ClinGen gnomAD
rs370357965 CA1413831	784	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1339155 rs761421541 CA1413830	784	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs773949630 CA1413829	788	Y>C		No	ClinGen ExAC gnomAD
rs768455674 CA1413828	789	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1476838416 CA344714893	790	G>A		No	ClinGen gnomAD
CA344714897 rs1476838416	790	G>V		No	ClinGen gnomAD
TCGA novel	791	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344714823 rs763801026	793	L>F		No	ClinGen ExAC TOPMed gnomAD
CA1413811 rs763801026	793	L>V		No	ClinGen ExAC TOPMed gnomAD
CA38463084 rs923136062	794	S>A		No	ClinGen Ensembl
COSM1218126 CA344714734 rs201381012	798	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs201381012 CA1413809	798	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1293784387 CA344714731	798	R>Q		No	ClinGen TOPMed
rs562758967 CA38463049	802	I>L		No	ClinGen TOPMed
CA38463044 rs562758967	802	I>V		No	ClinGen TOPMed
TCGA novel	803	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1413808 rs775337393	804	A>S		No	ClinGen ExAC TOPMed gnomAD
rs140573935 CA38463015	806	R>G		No	ClinGen ESP TOPMed gnomAD
rs1558230340 CA344714607	807	Q>*		No	ClinGen Ensembl
rs759550830 CA1413805	808	E>K		No	ClinGen ExAC gnomAD
CA344714572 rs1285376212	809	M>V		No	ClinGen gnomAD
rs751246154 CA1413804	814	S>G		No	ClinGen ExAC TOPMed gnomAD
rs751246154 CA344714480	814	S>R		No	ClinGen ExAC TOPMed gnomAD
CA344714469 rs1339930028	814	S>T		No	ClinGen gnomAD
CA344714458 rs1448872445	815	G>R		No	ClinGen TOPMed
CA1413784 rs372135543	819	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA344714009 rs1420913252	821	L>I		No	ClinGen gnomAD
TCGA novel	821	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748433468 CA1413782	822	K>E		No	ClinGen ExAC gnomAD
rs1272631309 CA344713985	823	V>I		No	ClinGen TOPMed
CA1413781 rs199692832	825	H>R		No	ClinGen 1000Genomes ExAC
CA344713815 rs1204633434	830	E>A		No	ClinGen gnomAD
CA38461538 rs928344076	830	E>D		No	ClinGen TOPMed
rs375107802 CA1413780	830	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA344713743 rs1256337532	833	K>E		No	ClinGen gnomAD
CA1413779 rs749650801	833	K>R		No	ClinGen ExAC gnomAD
CA344713664 rs1281858721	836	R>K		No	ClinGen gnomAD
rs75579846 CA38461523	838	S>F		No	ClinGen Ensembl
rs144005997 CA1413777	839	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs754651531 CA1413754	843	D>E		No	ClinGen ExAC gnomAD
CA1413755 rs778682297	843	D>V		No	ClinGen ExAC gnomAD
rs776139032 CA38458641	844	Q>H		No	ClinGen Ensembl
CA1413753 rs753722096	845	I>V		No	ClinGen ExAC gnomAD
rs1419548017 CA344712911	846	M>I		No	ClinGen gnomAD
rs535508556 CA38458626	847	Y>D		No	ClinGen ExAC gnomAD
rs535508556 CA1413752	847	Y>H		No	ClinGen ExAC gnomAD
CA1413750 rs750385827	849	R>C		No	ClinGen ExAC TOPMed gnomAD
rs139070771 CA1413749	849	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA1413751 rs750385827	849	R>S		No	ClinGen ExAC TOPMed gnomAD
CA1413748 rs762013255	851	Q>R		No	ClinGen ExAC gnomAD
rs1490854633 CA344712781	852	E>*		No	ClinGen gnomAD
rs1490854633 CA344712783	852	E>K		No	ClinGen gnomAD
rs41271483 CA38458599	853	S>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344712758 rs1351341855	853	S>F		No	ClinGen TOPMed gnomAD
rs41271483 CA1413747	853	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1261263218 CA344712737	855	S>I		No	ClinGen TOPMed
rs552984431 CA344712728	856	R>P		No	ClinGen TOPMed gnomAD
rs552984431 CA38458589	856	R>Q		No	ClinGen TOPMed gnomAD
CA1413746 rs368763444	856	R>W		No	ClinGen ESP ExAC TOPMed gnomAD

No associated diseases with O15381

9 regional properties for O15381

Type	Name	Position	InterPro Accession
domain	AAA+ ATPase domain	297 - 436	IPR003593-1
domain	AAA+ ATPase domain	614 - 750	IPR003593-2
domain	ATPase, AAA-type, core	301 - 432	IPR003959-1
domain	ATPase, AAA-type, core	618 - 747	IPR003959-2
conserved_site	ATPase, AAA-type, conserved site	404 - 422	IPR003960-1
conserved_site	ATPase, AAA-type, conserved site	718 - 736	IPR003960-2
domain	NVL2, nucleolin binding domain	2 - 71	IPR031996
domain	AAA ATPase, AAA+ lid domain	458 - 491	IPR041569-1
domain	AAA ATPase, AAA+ lid domain	773 - 830	IPR041569-2

Functions

		Description
EC Number
Subcellular Localization	[Isoform 2]: Nucleus, nucleoplasm ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
telomerase holoenzyme complex	Telomerase is a ribonucleoprotein enzyme complex, with a minimal catalytic core composed of a catalytic reverse transcriptase subunit and an RNA subunit that provides the template for telomeric DNA addition. In vivo, the holoenzyme complex often contains additional subunits.

4 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity	Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
preribosome binding	Binding to a preribosome.
RNA binding	Binding to an RNA molecule or a portion thereof.

6 GO annotations of biological process

Name	Definition
positive regulation of protein binding	Any process that activates or increases the frequency, rate or extent of protein binding.
positive regulation of telomerase activity	Any process that activates or increases the frequency, rate or extent of telomerase activity, the catalysis of the reaction: deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
regulation of protein localization to nucleolus	Any process that modulates the frequency, rate or extent of protein localization to nucleolus.
ribosomal large subunit biogenesis	A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a large ribosomal subunit; includes transport to the sites of protein synthesis.
ribosome biogenesis	A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of ribosome subunits; includes transport to the sites of protein synthesis.
rRNA processing	Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9DBY8	Nvl	Nuclear valosin-containing protein-like	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MKPRPAGFVD	NKLKQRVIQY	LTSNKCGKYV	DIGVLASDLQ	RVYSIDYGRR	KRNAFRIQVE
70	80	90	100	110	120
KVFSIISSEK	ELKNLTELED	EHLAKRARQG	EEDNEYTESY	SDDDSSMEDY	PDPQSANHMN
130	140	150	160	170	180
SSLLSLYRKG	NPDSVSNTPE	MEQRETTSST	PRISSKTGSI	PLKTPAKDSE	GGWFIDKTPS
190	200	210	220	230	240
VKKDSFFLDL	SCEKSNPKKP	ITEIQDSKDS	SLLESDMKRK	GKLKNKGSKR	KKEDLQEVDG
250	260	270	280	290	300
EIEAVLQKKA	KARGLEFQIS	NVKFEDVGGN	DMTLKEVCKM	LIHMRHPEVY	HHLGVVPPRG
310	320	330	340	350	360
VLLHGPPGCG	KTLLAHAIAG	ELDLPILKVA	APEIVSGVSG	ESEQKLRELF	EQAVSNAPCI
370	380	390	400	410	420
IFIDEIDAIT	PKREVASKDM	ERRIVAQLLT	CMDDLNNVAA	TARVLVIGAT	NRPDSLDPAL
430	440	450	460	470	480
RRAGRFDREI	CLGIPDEASR	ERILQTLCRK	LRLPQAFDFC	HLAHLTPGFV	GADLMALCRE
490	500	510	520	530	540
AAMCAVNRVL	MKLQEQQKKN	PEMEDLPSKG	VQEERLGTEP	TSETQDELQR	LLGLLRDQDP
550	560	570	580	590	600
LSEEQMQGLC	IELNDFIVAL	SSVQPSAKRE	GFVTVPNVTW	ADIGALEDIR	EELTMAILAP
610	620	630	640	650	660
VRNPDQFKAL	GLVTPAGVLL	AGPPGCGKTL	LAKAVANESG	LNFISVKGPE	LLNMYVGESE
670	680	690	700	710	720
RAVRQVFQRA	KNSAPCVIFF	DEVDALCPRR	SDRETGASVR	VVNQLLTEMD	GLEARQQVFI
730	740	750	760	770	780
MAATNRPDII	DPAILRPGRL	DKTLFVGLPP	PADRLAILKT	ITKNGTKPPL	DADVNLEAIA
790	800	810	820	830	840
GDLRCDCYTG	ADLSALVREA	SICALRQEMA	RQKSGNEKGE	LKVSHKHFEE	AFKKVRSSIS
850
KKDQIMYERL	QESLSR