AiPD: Autoinhibited Protein Database

Q6PIW4

Gene name	FIGNL1
Protein name	Fidgetin-like protein 1
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:63979
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

125-201 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

125-201 (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 Q6PIW4

Entry ID	Method	Resolution	Chain	Position	Source
3D8B	X-ray	200 A	A/B	341-674	PDB
AF-Q6PIW4-F1	Predicted				AlphaFoldDB

596 variants for Q6PIW4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA158224901 rs997046128	2	Q>R		No	ClinGen TOPMed
rs945874338 CA158224895	6	S>P		No	ClinGen Ensembl
rs1225887053 CA367535208	8	S>C		No	ClinGen TOPMed gnomAD
CA367535210 rs1225887053	8	S>Y		No	ClinGen TOPMed gnomAD
CA158224893 rs1041167557	10	H>Y		No	ClinGen TOPMed gnomAD
TCGA novel	14	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200586199 CA4261951	14	W>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749507967	16	K>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1333639540 CA367535111	17	N>T		No	ClinGen gnomAD
CA839341852 rs1201688113	18	Y>*		No	ClinGen TOPMed
rs750385383 COSM1451338 CA4261948	18	Y>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA4261945 rs377263544	20	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4261946 rs377263544	20	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA4261944 rs768393178	20	A>V		No	ClinGen ExAC TOPMed gnomAD
CA367535070 rs1476951099	21	I>V		No	ClinGen TOPMed
rs143937111 CA4261942	23	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1239566426 CA367535039	24	G>R		No	ClinGen gnomAD
CA4261941 rs771279506	25	I>M		No	ClinGen ExAC gnomAD
rs1198919419 CA367535030	25	I>V		No	ClinGen gnomAD
TCGA novel	27	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA158224876 rs376408467	28	G>A		No	ClinGen Ensembl
CA4261939 rs62445870	28	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781103365 CA4261936	29	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs781103365 CA4261937	29	P>R		No	ClinGen ExAC TOPMed gnomAD
rs962209274 CA158224873	29	P>T		No	ClinGen TOPMed
CA158224867 rs201476862	32	D>G		No	ClinGen Ensembl
rs139910008 CA4261934	33	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA367534939 rs1443218836	34	Y>C		No	ClinGen gnomAD
rs758277403 CA4261932	35	R>C		No	ClinGen ExAC TOPMed gnomAD
rs146011869 CA4261931	35	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA158224861 rs914511493	36	A>E		No	ClinGen TOPMed
CA4261929 rs761808053	38	I>M		No	ClinGen ExAC gnomAD
rs763497045 CA4261927	40	R>C		No	ClinGen ExAC gnomAD
CA4261925 rs142036979	40	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs142036979 CA4261926	40	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA367534882 rs1178806664	41	I>V		No	ClinGen gnomAD
CA367534875 rs1230677379	42	Q>*		No	ClinGen gnomAD
rs1442956163 CA367534873	42	Q>R		No	ClinGen TOPMed
CA4261923 rs763330453	44	A>T		No	ClinGen ExAC gnomAD
rs113545967 CA158224849	44	A>V		No	ClinGen gnomAD
CA4261921 rs770327131	45	W>C		No	ClinGen ExAC TOPMed gnomAD
CA367534844 rs1346090925	46	A>V		No	ClinGen gnomAD
CA4261920 rs201973013	47	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4261919 rs768616818	48	S>P		No	ClinGen ExAC TOPMed gnomAD
CA4261918 rs768616818	48	S>T		No	ClinGen ExAC TOPMed gnomAD
CA158224843 rs371712406	50	I>M		No	ClinGen Ensembl
rs1425027834 CA367534820	50	I>T		No	ClinGen TOPMed
CA367534809 rs1297099729	52	Q>P		No	ClinGen gnomAD
CA4261915 rs780440876	56	T>I		No	ClinGen ExAC TOPMed gnomAD
CA158224834 rs946093383	57	K>Q		No	ClinGen TOPMed
rs745695067 CA4261913	57	K>R		No	ClinGen ExAC gnomAD
rs1341996027 CA367534751	58	L>M		No	ClinGen TOPMed
CA4261911 rs757274596	59	F>L		No	ClinGen ExAC TOPMed gnomAD
CA367534733 rs1405409056	59	F>L		No	ClinGen gnomAD
CA367534720 rs1345501072	60	K>E		No	ClinGen TOPMed
rs1256206961 TCGA novel CA367534701	61	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
CA367534708 rs1472800027	61	K>Q		No	ClinGen gnomAD
rs914445213 CA158224828	63	A>V		No	ClinGen Ensembl
CA367534644 rs1585101856	68	A>T		No	ClinGen Ensembl
CA367534615 rs1265755128	70	I>T		No	ClinGen gnomAD
CA4261908 rs764024814	73	D>N		No	ClinGen ExAC gnomAD
CA4261907 rs755592733	74	N>S		No	ClinGen ExAC TOPMed gnomAD
CA4261906 rs752155036	75	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1230244686 CA367534536	76	E>A		No	ClinGen gnomAD
rs767189767 CA4261905	76	E>D		No	ClinGen ExAC gnomAD
CA4261904 rs759159447	77	S>T		No	ClinGen ExAC gnomAD
rs376833530 CA4261902	81	N>D		No	ClinGen ESP ExAC gnomAD
CA4261901 rs762452518	86	I>T		No	ClinGen ExAC gnomAD
rs1261788895 CA367534333	90	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA4261899 rs777013145	92	S>A		No	ClinGen ExAC gnomAD
rs1461691464 CA367534267	92	S>C		No	ClinGen gnomAD
rs1162218828 CA367534217	94	Q>K		No	ClinGen gnomAD
CA158224813 rs955071853	94	Q>R		No	ClinGen TOPMed gnomAD
rs1379018501 CA367534197	95	T>A		No	ClinGen TOPMed
rs1475252788 CA367534175	96	D>G		No	ClinGen gnomAD
rs1158758278 CA367534181	96	D>H		No	ClinGen TOPMed
CA367534141 rs1361957033	97	S>C		No	ClinGen TOPMed
CA367534147 rs1361957033	97	S>G		No	ClinGen TOPMed
rs143806821 CA4261896	98	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4261895 rs775677529	102	S>P		No	ClinGen ExAC gnomAD
CA4261894 rs772469554	103	G>E		No	ClinGen ExAC TOPMed gnomAD
CA367533854 rs1562962299	104	L>F		No	ClinGen Ensembl
rs1562962315 CA367533879	104	L>W		No	ClinGen Ensembl
rs746073114 CA4261893	105	S>A		No	ClinGen ExAC gnomAD
CA367533834 rs1331458468	105	S>L		No	ClinGen TOPMed
CA4261891 rs757006948	106	I>M		No	ClinGen ExAC gnomAD
CA4261892 rs199964406	106	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs749053157 CA4261890	108	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1562962168 CA367533659	109	V>F		No	ClinGen Ensembl
CA4261887 CA158224803 rs112666980	112	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367533582 rs1323505665	112	M>T		No	ClinGen gnomAD
rs777593531 CA4261888	112	M>V		No	ClinGen ExAC gnomAD
CA4261886 rs752245285	114	S>G		No	ClinGen ExAC gnomAD
rs566903436 CA4261884	115	V>I		No	ClinGen ExAC TOPMed gnomAD
CA367533465 rs1417771834	116	Q>K		No	ClinGen gnomAD
rs1195964232 CA367533371	118	M>V		No	ClinGen gnomAD
CA4261883 rs374784199	119	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA158224796 rs1008281450	119	M>V		No	ClinGen TOPMed gnomAD
CA367533268 rs1191987660	121	A>G		No	ClinGen gnomAD
COSM746580 rs762209998 CA4261881	122	G>D	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
CA367533211 rs1236842666	123	K>R		No	ClinGen TOPMed
TCGA novel	123	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367533149 rs1585100696	125	F>I		No	ClinGen Ensembl
CA4261880 rs777239305	125	F>L		No	ClinGen ExAC gnomAD
CA158224787 rs1006802011	127	D>G		No	ClinGen TOPMed gnomAD
rs1439646706 CA367533122	127	D>H		No	ClinGen TOPMed
rs1305765296 CA367533099	128	S>C		No	ClinGen TOPMed gnomAD
CA367533098 rs1305765296	128	S>F		No	ClinGen TOPMed gnomAD
rs764329005 CA4261879	128	S>T		No	ClinGen ExAC TOPMed gnomAD
CA4261876 rs199623907	131	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367533066 rs199623907	131	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA158224781 rs564611082	132	P>L		No	ClinGen Ensembl
CA367533059 rs1562961824	132	P>T		No	ClinGen Ensembl
CA367533028 rs1474227876	134	L>H		No	ClinGen gnomAD
CA4261874 rs774560910	134	L>V		No	ClinGen ExAC gnomAD
rs10235371 CA4261872 VAR_034941	137	V>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	138	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA158224773 rs201162351	138	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA158224771 rs201162351	138	V>L		No	ClinGen Ensembl
TCGA novel	142	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367532931 rs1435651954	143	A>V		No	ClinGen gnomAD
rs747947919 CA4261869	146	F>I		No	ClinGen ExAC gnomAD
CA367532910 rs1562961637	147	D>H		No	ClinGen Ensembl
CA367532911 rs1562961637	147	D>N		No	ClinGen Ensembl
rs1171988845 CA367532899	148	L>P		No	ClinGen gnomAD
CA367532892 rs1251333008	149	P>L		No	ClinGen gnomAD
CA158224765 rs112257703	150	K>E		No	ClinGen Ensembl
rs754617778 CA4261867	152	S>N		No	ClinGen ExAC gnomAD
CA4261866 rs373594654	154	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA367532849 rs1585099992	156	S>G		No	ClinGen Ensembl
rs1554405882 CA4261864	156	S>T		No	ClinGen Ensembl
rs78246344 CA158224759	157	S>F		No	ClinGen Ensembl
rs779405622 CA4261863	158	Q>*		No	ClinGen ExAC gnomAD
CA367532822 rs757961682	160	S>C		No	ClinGen ExAC TOPMed gnomAD
rs757961682 CA4261862	160	S>G		No	ClinGen ExAC TOPMed gnomAD
rs754254246 CA367532821	160	S>N		No	ClinGen ExAC gnomAD
rs754254246 CA4261861	160	S>T		No	ClinGen ExAC gnomAD
rs764641262 CA4261860	162	S>*		No	ClinGen ExAC TOPMed gnomAD
rs1440128138 CA367532791	165	N>D		No	ClinGen TOPMed
rs370523162 CA367532784	165	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1440128138 CA367532790	165	N>Y		No	ClinGen TOPMed
rs551809857 CA4261854	166	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770875263 CA4261853	167	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1466002463 CA367532770	168	H>R		No	ClinGen TOPMed
rs763114698 CA4261852	168	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA4261850 rs748147882	170	R>*		No	ClinGen ExAC TOPMed gnomAD
CA4261849 rs748147882	170	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs562775373 CA4261848	170	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA4261846 rs150289225	171	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs150289225 CA4261847	171	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs140068296 CA158224738	172	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA4261844 rs757791696	172	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4261845 rs140068296	172	R>W	Variant assessed as Somatic; 0.0002315 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs529394194 CA4261842 CA4261841	176	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA158224733 rs377710434	177	P>A		No	ClinGen ESP
rs369169571 CA4261840	177	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369169571 CA158224731	177	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs369169571 CA367532718	177	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs766635137 CA4261836	179	S>N		No	ClinGen ExAC gnomAD
CA158224724 rs1010210214	179	S>R		No	ClinGen Ensembl
CA4261834 rs540678912	180	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA158224719 rs1054523452	181	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs769916275 CA4261833	181	R>H		No	ClinGen ExAC gnomAD
rs1054523452 COSM746581 CA367532696	181	R>S	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1354639733 CA367532689	182	L>S		No	ClinGen gnomAD
CA4261832 rs142215430	184	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1465465488 CA367532673	184	L>H		No	ClinGen TOPMed
rs1051478752 CA158224713	185	L>F		No	ClinGen Ensembl
rs1562960847 CA367532658	187	N>D		No	ClinGen Ensembl
CA158224710 rs111559413	189	Q>H		No	ClinGen Ensembl
rs1311610431 CA367532637	190	P>A		No	ClinGen gnomAD
rs933907385 CA158224709	193	V>M		No	ClinGen Ensembl
rs1386173737 CA367532609	194	T>N		No	ClinGen gnomAD
rs1288461125 CA367532590	197	A>S		No	ClinGen gnomAD
rs776586993 CA4261830	199	T>I		No	ClinGen ExAC gnomAD
CA158224706 rs1011578014	200	C>Y		No	ClinGen TOPMed
rs768396157 CA4261829	202	T>A		No	ClinGen ExAC gnomAD
CA367532558 rs1562960682	202	T>R		No	ClinGen Ensembl
CA4261828 rs746837397	205	A>S		No	ClinGen ExAC gnomAD
CA367532519 rs1415502444	209	E>K		No	ClinGen gnomAD
rs771754503 CA158224700	211	A>P		No	ClinGen ExAC TOPMed gnomAD
rs771754503 CA4261826	211	A>T		No	ClinGen ExAC TOPMed gnomAD
rs745567344 CA4261825	211	A>V		No	ClinGen ExAC TOPMed
CA4261824 rs778465603	212	T>I		No	ClinGen ExAC gnomAD
rs267601538 CA158224694	215	F>L		No	ClinGen TOPMed
CA4261822 rs748625331	216	H>R		No	ClinGen ExAC gnomAD
CA4261823 VAR_034942 rs35929700	216	H>Y		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4261821 rs781769967	217	V>F		No	ClinGen ExAC TOPMed gnomAD
CA367532466 rs1212461992	217	V>G		No	ClinGen TOPMed gnomAD
rs1282903512 CA367532463	218	T>S		No	ClinGen gnomAD
CA4261820 rs144101936	220	L>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4261819 rs144101936	220	L>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA158224684 rs561886274	225	K>E		No	ClinGen Ensembl
rs758630922 CA4261817	225	K>R		No	ClinGen ExAC TOPMed gnomAD
rs750656597 CA4261816	226	K>T		No	ClinGen ExAC gnomAD
rs765266283 CA4261815	227	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1460922989 CA367532355	228	N>D		No	ClinGen gnomAD
rs144297981 COSM1090596 CA4261812	230	S>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
rs144297981 CA4261813	230	S>N		No	ClinGen ESP ExAC gnomAD
rs760598195 CA4261811	230	S>R		No	ClinGen ExAC gnomAD
CA4261810 rs556446618	231	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1190838379 CA367532295	233	K>E		No	ClinGen gnomAD
CA4261809 rs149596053	236	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1585098290 CA367532254	236	I>V		No	ClinGen Ensembl
CA4261807 rs370131380	237	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs370131380 CA4261808	237	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1274562949 CA367532224	239	N>H		No	ClinGen gnomAD
TCGA novel	239	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4261805 rs139245614	240	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367532185 rs1302509063	242	L>S		No	ClinGen TOPMed
rs781736431 CA4261804	243	S>A		No	ClinGen ExAC gnomAD
CA4261802 rs369555128	249	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	250	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4261801 rs184297998	250	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	254	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1020511186 CA158224662	256	Q>*		No	ClinGen Ensembl
rs113845281 CA4261799	256	Q>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs113845281 CA4261800	256	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4261798 rs750613807	257	R>S		No	ClinGen ExAC TOPMed gnomAD
CA158224657 rs893109840	258	K>M		No	ClinGen TOPMed gnomAD
rs1487997260 CA367531960 COSM1207145	259	S>Y	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1436313068 CA367531954	260	F>L		No	ClinGen gnomAD
rs79851593 CA4261796	261	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753913264 CA4261795	262	G>D		No	ClinGen ExAC gnomAD
rs1172603316 CA367531844	263	S>Y		No	ClinGen gnomAD
rs1562959784 CA367531826	265	T>P		No	ClinGen Ensembl
rs143316695 CA4261794	266	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs775331601 CA4261792	267	D>E		No	ClinGen ExAC gnomAD
rs376193207 CA4261793	267	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs767305212 CA4261791	268	A>T		No	ClinGen ExAC gnomAD
rs759273253 CA4261790	270	S>A		No	ClinGen ExAC
rs371326486 CA4261789	270	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs113757480 CA4261788	271	N>S		No	ClinGen ExAC gnomAD
rs762758199 CA4261787	272	P>L		No	ClinGen ExAC TOPMed gnomAD
rs140225959 CA4261784	273	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769234078 CA4261785	273	I>T		No	ClinGen ExAC gnomAD
rs114977235 CA4261786	273	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4261782 rs772427310	274	L>R		No	ClinGen ExAC gnomAD
CA4261781 rs746240766	275	N>D		No	ClinGen ExAC gnomAD
rs146689210 CA4261780	277	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA367531587 rs1375804634	277	A>V		No	ClinGen gnomAD
rs757460815 CA4261779	278	C>S		No	ClinGen ExAC gnomAD
rs754110258 CA4261778	279	S>G		No	ClinGen ExAC gnomAD
rs777801333 CA4261777	279	S>R		No	ClinGen ExAC gnomAD
rs1158788510 CA367531447	281	T>I		No	ClinGen TOPMed gnomAD
CA4261776 rs756179794	283	D>G		No	ClinGen ExAC gnomAD
CA4261775 rs144012928	284	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA367531362 rs1180618232	284	N>K		No	ClinGen gnomAD
TCGA novel	284	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4261774 rs375386461	285	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4261773 rs759307879	286	P>S		No	ClinGen ExAC gnomAD
CA367531255 rs1441056531	289	D>G		No	ClinGen gnomAD
rs549218107 CA4261771	290	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs762669958 CA4261770	290	S>N		No	ClinGen ExAC TOPMed gnomAD
CA367531180 rs1286575316	293	P>S		No	ClinGen gnomAD
rs761247655 CA4261768	294	T>A		No	ClinGen ExAC TOPMed gnomAD
rs761247655 CA4261767	294	T>P		No	ClinGen ExAC TOPMed gnomAD
rs776001772 CA4261766	295	F>S		No	ClinGen ExAC gnomAD
rs1318512662 CA367531136	297	T>A		No	ClinGen gnomAD
CA367531127 rs1399800677	298	A>S		No	ClinGen gnomAD
CA367531130 rs1399800677 COSM1194248	298	A>T	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1585097071 CA367531096	301	Q>K		No	ClinGen Ensembl
rs1475258920 CA367531060	303	W>C		No	ClinGen TOPMed gnomAD
rs1562959223 CA367531057	304	V>L		No	ClinGen Ensembl
CA4261761 rs749473264	305	D>N		No	ClinGen ExAC TOPMed gnomAD
CA367531028 rs1187908961	306	Q>H		No	ClinGen gnomAD
rs1471988521 CA367531000	309	K>E		No	ClinGen gnomAD
CA367530996 rs1244243950	309	K>R		No	ClinGen TOPMed gnomAD
rs1216734611	309	K>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1266302477 CA367530981	310	Y>C		No	ClinGen gnomAD
TCGA novel	310	Y>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA158224605 rs941043257	314	Q>H		No	ClinGen Ensembl
rs777881369 CA4261760	315	R>C		No	ClinGen ExAC TOPMed gnomAD
rs756161177 CA4261759	315	R>H		No	ClinGen ExAC TOPMed gnomAD
rs546012786 CA367530918	316	A>P		No	ClinGen TOPMed gnomAD
CA158224600 rs546012786	316	A>T		No	ClinGen TOPMed gnomAD
CA158224597 rs557854214	317	S>*		No	ClinGen TOPMed gnomAD
rs557854214 CA367530903	317	S>L		No	ClinGen TOPMed gnomAD
CA4261756 rs372100938 CA4261757	318	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4261754 rs148147256	319	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs766243866 CA4261753	320	S>L		No	ClinGen ExAC gnomAD
CA4261752 rs368641564	322	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA367530861 rs1164985764	323	G>S		No	ClinGen TOPMed gnomAD
CA158224587 rs937771076	324	V>I		No	ClinGen gnomAD
CA4261750 rs764804778	326	K>R		No	ClinGen ExAC gnomAD
TCGA novel	326	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	327	S>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775710296 CA158224582	330	A>S		No	ClinGen Ensembl
rs1460615302 CA367530771	332	R>G		No	ClinGen TOPMed gnomAD
CA4261747 rs763712899	334	R>*		No	ClinGen ExAC gnomAD
CA367530750 rs763712899	334	R>G		No	ClinGen ExAC gnomAD
rs189665629 CA4261746	334	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA4261745 rs771236637 COSM485432	335	G>E	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs771236637 CA4261744	335	G>V		No	ClinGen ExAC gnomAD
rs749667286 CA4261743 CA367530737	336	I>L		No	ClinGen ExAC TOPMed gnomAD
CA367530710 rs1415012149	339	K>Q		No	ClinGen TOPMed
rs1219241450 CA367530674	342	P>A		No	ClinGen gnomAD
rs1562958735 CA367530668	342	P>L		No	ClinGen Ensembl
CA367530673 rs1219241450	342	P>S		No	ClinGen gnomAD
CA4261742 rs773417221	343	P>A		No	ClinGen ExAC gnomAD
CA4261741 rs769903405	343	P>L		No	ClinGen ExAC gnomAD
rs1161830733 CA367530645	345	P>S		No	ClinGen TOPMed gnomAD
CA367530648 rs1161830733	345	P>T		No	ClinGen TOPMed gnomAD
CA367530614 rs1217794329	348	D>H		No	ClinGen TOPMed
rs374195874 CA4261739	349	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA158224569 rs1038680833	349	G>R		No	ClinGen TOPMed
rs374195874 CA4261738	349	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA158224564 rs912806258	350	G>*		No	ClinGen TOPMed
CA4261737 rs746900345	350	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4261736 rs780158616	352	Q>R		No	ClinGen ExAC
rs758206075 CA4261735	353	N>S		No	ClinGen ExAC TOPMed gnomAD
CA367530543 rs765142661	355	G>E		No	ClinGen ExAC TOPMed gnomAD
CA4261733 rs765142661	355	G>V		No	ClinGen ExAC TOPMed gnomAD
rs756839762 CA367530510	357	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA367530515 rs967627177	357	Q>P		No	ClinGen TOPMed gnomAD
CA158224558 rs967627177	357	Q>R		No	ClinGen TOPMed gnomAD
rs751386632 CA4261731	358	C>R		No	ClinGen ExAC gnomAD
rs763472605 CA4261730	360	P>L		No	ClinGen ExAC gnomAD
CA4261729 rs764119262	361	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1174652042 CA367530477	362	G>A		No	ClinGen TOPMed
rs766877179 CA4261727	365	P>T		No	ClinGen ExAC
rs372491748 CA4261726	366	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA4261725 rs773435435	368	P>S		No	ClinGen ExAC gnomAD
CA367530439 rs1189601849	369	A>T		No	ClinGen gnomAD
CA4261723 rs748283593	370	H>Y		No	ClinGen ExAC gnomAD
rs1338009472 CA367530424	371	P>L		No	ClinGen TOPMed
rs776940812 CA4261722	371	P>S		No	ClinGen ExAC gnomAD
CA4261720 rs747096124	373	D>G		No	ClinGen ExAC gnomAD
CA4261719 rs780350955	375	R>C		No	ClinGen ExAC TOPMed gnomAD
rs148860816 CA4261718	375	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA367530376 rs1467323662	379	L>M		No	ClinGen TOPMed gnomAD
CA4261717 rs745868664	383	M>V		No	ClinGen ExAC gnomAD
CA4261716 rs545064134	384	I>T		No	ClinGen ExAC TOPMed gnomAD
CA4261715 rs757108738	385	E>K		No	ClinGen ExAC
rs1373464772 CA367530324	386	L>F		No	ClinGen TOPMed gnomAD
CA4261713 rs368011756	387	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	389	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752198164 CA4261711	389	N>K		No	ClinGen ExAC gnomAD
CA367530277 rs1562958065	392	M>I		No	ClinGen Ensembl
rs1193262548 CA367530274	393	D>N		No	ClinGen TOPMed
CA367530259 rs1435553985	394	H>Q		No	ClinGen gnomAD
TCGA novel	395	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4261710 rs767071453	396	P>L		No	ClinGen ExAC gnomAD
CA4261708 rs374110824	397	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs145459309 CA4261709	397	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4261707 rs533441543	398	V>I		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	400	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1189922720 CA367530208	402	D>E		No	ClinGen TOPMed
CA4261706 rs762258250	402	D>V		No	ClinGen ExAC gnomAD
rs769001297 CA4261704	403	I>T		No	ClinGen ExAC gnomAD
CA4261705 rs776655212	403	I>V		No	ClinGen ExAC
rs1211264975 CA367530185	406	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA4261702 rs544593048	408	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772321284 CA4261701	411	A>V		No	ClinGen ExAC gnomAD
rs1358134512 CA367530148	412	T>A		No	ClinGen TOPMed
CA158224522 rs374878258	413	I>L		No	ClinGen ESP TOPMed
rs1217522783 CA367530138	413	I>M		No	ClinGen gnomAD
CA4261700 rs745755655	416	I>T		No	ClinGen ExAC TOPMed gnomAD
CA367530121 rs1316963126	416	I>V		No	ClinGen gnomAD
CA367530093 rs778933657	420	P>S		No	ClinGen ExAC TOPMed
CA4261699 rs778933657	420	P>T		No	ClinGen ExAC TOPMed
rs1369034887 CA367530082	421	M>I		No	ClinGen TOPMed gnomAD
rs770576675 CA4261698	421	M>T		No	ClinGen ExAC gnomAD
rs1274135217 CA367530088	421	M>V		No	ClinGen TOPMed
CA4261697 rs146680091	422	L>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367530064 rs1415705657	424	P>L		No	ClinGen gnomAD
rs777613182 CA4261696	424	P>S		No	ClinGen ExAC gnomAD
rs1004721473 CA367530049	426	I>M		No	ClinGen TOPMed gnomAD
CA4261695 rs755750489	428	T>N		No	ClinGen ExAC gnomAD
CA4261694 rs780648761	429	G>A		No	ClinGen ExAC TOPMed gnomAD
CA4261693 rs780648761	429	G>V		No	ClinGen ExAC TOPMed gnomAD
CA4261692 rs754543872	430	L>F		No	ClinGen ExAC gnomAD
CA158224503 rs1033013249	433	P>T		No	ClinGen gnomAD
CA367529986 rs1253877584	434	P>L		No	ClinGen gnomAD
rs765785150 CA4261690	434	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1449032718 CA367529977	435	K>T		No	ClinGen TOPMed
rs754244840 CA4261687	438	L>W		No	ClinGen ExAC gnomAD
CA367529928 rs1206213895	439	L>P		No	ClinGen gnomAD
COSM70783 rs764605600 CA4261686	440	F>C	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1246236370 CA367529894	442	P>L		No	ClinGen gnomAD
CA367529887 rs1322203615	443	P>A		No	ClinGen gnomAD
CA367529857 rs1384122641	445	T>I		No	ClinGen gnomAD
CA367529850 rs1362853616	446	G>A		No	ClinGen gnomAD
TCGA novel	447	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs141070996 CA4261682	448	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA367529807 rs1396811079	450	I>T		No	ClinGen TOPMed gnomAD
rs1165532244 CA367529796	451	G>D		No	ClinGen gnomAD
rs889886263 CA158224488	452	K>R		No	ClinGen TOPMed
CA4261679 rs770898308	454	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1366491802 CA367529746	456	S>G		No	ClinGen gnomAD
CA367529731 rs1394995561	457	Q>R		No	ClinGen TOPMed
CA367529700 rs1195130163	460	A>S		No	ClinGen TOPMed gnomAD
CA367529692 rs1428907062	461	T>A		No	ClinGen gnomAD
rs1329292479 CA367529667	463	F>I		No	ClinGen TOPMed
CA4261678 rs749240162	463	F>S		No	ClinGen ExAC gnomAD
rs1186312610 CA367529652	464	S>N		No	ClinGen gnomAD
TCGA novel	464	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367529635 rs1425895204	465	I>M		No	ClinGen gnomAD
CA4261677 rs777519479	465	I>V		No	ClinGen ExAC TOPMed gnomAD
rs192313152 CA4261676	466	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs192313152 CA4261675	466	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA367529591 rs1210958309	469	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1562957031 CA367529588	470	L>V		No	ClinGen Ensembl
rs146521755 CA4261673	473	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1229990959 CA367529550	473	K>R		No	ClinGen gnomAD
rs746530770 CA367529539	474	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs746530770 CA4261672	474	W>L		No	ClinGen ExAC TOPMed gnomAD
rs757763469 CA367529499	477	E>D		No	ClinGen ExAC TOPMed gnomAD
CA4261671 rs377746465	477	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	479	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	480	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367529447 rs1386127288	481	M>T		No	ClinGen gnomAD
CA367529432 rs1388411133	482	V>A		No	ClinGen gnomAD
CA4261668 rs144082857	483	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4261667 rs764517812	483	R>H		No	ClinGen ExAC TOPMed gnomAD
CA367529396 rs1389381925	487	A>V		No	ClinGen gnomAD
CA4261665 rs752910125	488	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1395151810 CA367529387	489	A>E		No	ClinGen gnomAD
rs1395151810 CA367529385	489	A>V		No	ClinGen gnomAD
rs767785545 CA4261664	490	R>K		No	ClinGen ExAC gnomAD
CA367529376 rs1585093644	491	C>G		No	ClinGen Ensembl
rs1365084648 CA367529375	491	C>Y		No	ClinGen TOPMed
CA367529366 rs1449382756	492	Q>R		No	ClinGen gnomAD
CA4261663 rs200644774	493	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1198104765 CA367529355	494	P>S		No	ClinGen gnomAD
CA367529348 rs1483572763	495	A>P		No	ClinGen gnomAD
rs774478588 CA4261662	497	I>T		No	ClinGen ExAC TOPMed gnomAD
CA367529336 rs1274421198	497	I>V		No	ClinGen gnomAD
rs766417250 CA4261661	498	F>L		No	ClinGen ExAC
rs1304157781 CA367529307	501	E>*		No	ClinGen gnomAD
CA4261659 rs202105913	502	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1232533575 CA367529295	503	D>N		No	ClinGen gnomAD
COSM3832978 rs1462827765 CA367529282	504	S>F	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA367529281 rs913508694	505	L>M		No	ClinGen TOPMed
RCV000203213 rs535171403	507	S>missing		No	ClinVar dbSNP
CA4261658 rs769529142	507	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA158224458 rs937637560	508	Q>L		No	ClinGen gnomAD
rs937637560 CA367529258	508	Q>R		No	ClinGen gnomAD
rs927756635 CA158224455	509	R>W		No	ClinGen TOPMed gnomAD
rs776196459 CA4261656	510	G>V		No	ClinGen ExAC gnomAD
rs1446092261 CA367529238	512	G>S		No	ClinGen TOPMed
CA4261655 rs768348091	514	H>R		No	ClinGen ExAC gnomAD
CA4261654 rs746692997	515	E>V		No	ClinGen ExAC gnomAD
CA4261653 rs779587801	516	S>Y		No	ClinGen ExAC gnomAD
rs867297337 CA158224448	517	S>F		No	ClinGen TOPMed gnomAD
TCGA novel	521	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1585093088 CA367529164	523	E>Q		No	ClinGen Ensembl
rs1476728980 CA367529156	524	F>I		No	ClinGen gnomAD
rs369897372 CA4261652	525	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4261649 rs756481261	526	V>G		No	ClinGen ExAC gnomAD
rs151204868 CA4261651	526	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA4261650 rs151204868	526	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4261648 rs753110060	527	Q>E		No	ClinGen ExAC gnomAD
CA367529135 rs1256674545	527	Q>H		No	ClinGen TOPMed
CA367529128 rs1339276528	528	L>F		No	ClinGen TOPMed
CA367529132 rs1203378894	528	L>V		No	ClinGen gnomAD
CA4261646 rs142867266	529	D>G		No	ClinGen ESP ExAC gnomAD
rs767830198 CA4261647	529	D>Y		No	ClinGen ExAC gnomAD
CA367529117 rs1287504801	530	G>A		No	ClinGen TOPMed gnomAD
CA4261645 rs751767519	531	A>G		No	ClinGen ExAC gnomAD
TCGA novel	531	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1467973214 CA367529114	531	A>T		No	ClinGen gnomAD
CA367529110 rs751767519	531	A>V		No	ClinGen ExAC gnomAD
CA367529101 rs1228922117	533	T>A		No	ClinGen TOPMed gnomAD
TCGA novel	533	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773072079 CA4261642	534	S>F		No	ClinGen ExAC gnomAD
CA4261641 rs765160181	536	E>A		No	ClinGen ExAC gnomAD
CA4261640 rs761804249	537	D>G		No	ClinGen ExAC TOPMed gnomAD
CA158224429 rs927396766	537	D>N		No	ClinGen TOPMed
rs199544416 CA4261639	538	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4261638 rs768379532	538	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1585092602 CA367529063	539	I>M		No	ClinGen Ensembl
rs374642968 CA4261637	540	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	544	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1004860572 CA158224419	544	A>T		No	ClinGen TOPMed gnomAD
rs775032569 CA4261636	546	N>D		No	ClinGen ExAC gnomAD
CA367529021 rs1180683013	547	R>Q		No	ClinGen TOPMed gnomAD
rs148546983 CA4261635	547	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4261632 rs770412510	549	Q>*		No	ClinGen ExAC gnomAD
rs1440969663 CA367529009	549	Q>R		No	ClinGen gnomAD
rs748715277 CA4261631	551	I>V		No	ClinGen ExAC gnomAD
rs770578897 CA158224407	552	D>E		No	ClinGen Ensembl
CA4261629 rs755328374	552	D>V		No	ClinGen ExAC gnomAD
CA4261628 rs751756546	553	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1266115143 CA367528985	553	E>K		No	ClinGen gnomAD
CA158224403 rs546235904	556	R>L		No	ClinGen TOPMed gnomAD
CA367528965 rs546235904	556	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA4261627 rs780152080	556	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4261625 rs750494666	560	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1385828129 CA367528912	564	Y>C		No	ClinGen gnomAD
CA158224397 rs1029713336	566	P>A		No	ClinGen TOPMed gnomAD
CA158224394 rs1009029784	567	L>F		No	ClinGen TOPMed gnomAD
rs1345052180 CA367528887	568	P>L		No	ClinGen gnomAD
TCGA novel	568	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760403880 CA4261620	568	P>T		No	ClinGen ExAC gnomAD
TCGA novel	570	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775142502 CA4261619	570	A>G		No	ClinGen ExAC TOPMed gnomAD
CA4261618 rs771846933	571	S>L		No	ClinGen ExAC gnomAD
rs1042056338 CA158224390	572	A>V		No	ClinGen TOPMed
rs759321658 CA4261617	574	K>E		No	ClinGen ExAC gnomAD
CA367528845 rs1383127402	575	Q>R		No	ClinGen TOPMed
rs369731196 CA4261615	576	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA367528836 rs1215479364	576	I>R		No	ClinGen TOPMed gnomAD
CA367528837 rs1215479364	576	I>T		No	ClinGen TOPMed gnomAD
rs748646347 CA4261614	577	V>I		No	ClinGen ExAC gnomAD
CA367528825 rs1562955507	578	I>S		No	ClinGen Ensembl
CA4261612 rs200453649	581	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747335186 CA4261611	582	S>F		No	ClinGen ExAC gnomAD
CA367528801 rs1356562933	582	S>P		No	ClinGen gnomAD
rs780529754 CA4261610	583	K>N		No	ClinGen ExAC gnomAD
CA158224378 rs961216321	583	K>T		No	ClinGen Ensembl
rs1436592471 CA367528783	585	Q>K		No	ClinGen gnomAD
rs371928445 CA4261608	585	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs375228121 COSM3788288 CA367528758	587	C>S	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA4261606 rs140862457	587	C>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs375228121 CA4261607	587	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs927417817 CA158224366	589	S>T		No	ClinGen TOPMed
TCGA novel	592	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA158224364 rs1005914429	593	I>L		No	ClinGen Ensembl
rs528408004 CA367528647	593	I>N		No	ClinGen Ensembl
rs528408004 CA158224361	593	I>T		No	ClinGen Ensembl
CA4261605 rs753755287	594	E>G		No	ClinGen ExAC gnomAD
CA4261603 rs760733056	595	Q>R		No	ClinGen ExAC gnomAD
rs1562955213 CA367528561	596	I>T		No	ClinGen Ensembl
rs888376656 CA158224357	597	V>I		No	ClinGen TOPMed gnomAD
rs1055430682 CA158224355	598	Q>R		No	ClinGen Ensembl
rs1467950462 CA367528507	599	Q>*		No	ClinGen TOPMed
CA4261602 rs752421945	601	D>A		No	ClinGen ExAC gnomAD
CA367528447 rs1194254225	602	A>P		No	ClinGen TOPMed
rs747409875 CA4261601	602	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4261598 rs770514625	608	M>V		No	ClinGen ExAC gnomAD
CA4261597 rs762381991	609	T>A		No	ClinGen ExAC TOPMed gnomAD
rs140991399 CA4261596	609	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs147319553 CA158224344	610	Q>H		No	ClinGen ESP TOPMed
rs1476051397 CA367528255	611	L>F		No	ClinGen gnomAD
TCGA novel	613	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA158224337 rs1046205025	618	G>D		No	ClinGen TOPMed
CA4261592 rs775807106	620	I>L		No	ClinGen ExAC gnomAD
COSM256964 rs866389991 CA367528041	621	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs772460200 CA4261591 COSM190846	621	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA158224331 rs866389991	621	R>S		No	ClinGen gnomAD
CA4261590 rs144129248	622	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA367528029 rs144129248	622	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA158224326 rs913436583	624	Q>P		No	ClinGen TOPMed
CA367527947 rs913436583	624	Q>R		No	ClinGen TOPMed
CA367527915 rs1309078019	626	A>T		No	ClinGen gnomAD
CA158224323 rs568473252	628	I>F		No	ClinGen 1000Genomes ExAC gnomAD
rs568473252 CA4261588	628	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA367527864 rs1305805806	629	A>S		No	ClinGen TOPMed
rs1187084583 CA367527841	630	T>A		No	ClinGen gnomAD
CA4261587 rs201042649	630	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138265417 CA367527830	631	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4261586 rs138265417	631	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs200232881 CA4261585	633	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs375677597 CA158224320	633	P>S		No	ClinGen Ensembl
rs202134695 CA4261583	634	D>A		No	ClinGen 1000Genomes ExAC gnomAD
CA367527740 rs1473569114	635	Q>R		No	ClinGen gnomAD
rs1252469715 CA367527715	636	V>F		No	ClinGen gnomAD
rs754841480 CA4261582	637	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4261581 rs751198966	637	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4261580 rs766134542	639	I>L		No	ClinGen ExAC TOPMed gnomAD
CA4261579 rs762730205	639	I>M		No	ClinGen ExAC gnomAD
rs1367834891 CA367527662	639	I>T		No	ClinGen Ensembl
rs772580800 CA4261578	640	A>P		No	ClinGen ExAC TOPMed gnomAD
CA574695379 rs1195852650	641	Y>*		No	ClinGen gnomAD
CA4261577 rs200680678	641	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA4261575 rs776001209	642	I>T		No	ClinGen ExAC gnomAD
rs75241836 CA4261576	642	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367527608 rs1246566688	643	D>N		No	ClinGen gnomAD
CA158224293 rs199556436	644	F>S		No	ClinGen TOPMed
CA4261574 rs772367088	645	E>A		No	ClinGen ExAC gnomAD
rs1161642407 CA367527544	646	N>Y		No	ClinGen TOPMed
TCGA novel	649	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4261572 rs774768080	652	R>*		No	ClinGen ExAC TOPMed gnomAD
rs370362313 CA4261571	652	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs370362313 CA4261570 COSM1090589	652	R>Q	ovary Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA158224286 rs748704093	653	P>R		No	ClinGen Ensembl
rs1173974448 CA367527410	654	S>N		No	ClinGen TOPMed gnomAD
CA4261569 rs777685237	654	S>R		No	ClinGen ExAC gnomAD
CA158224282 rs570411208	655	V>A		No	ClinGen Ensembl
CA158224277 rs748048613	658	K>E		No	ClinGen ExAC TOPMed gnomAD
CA4261567 rs748048613	658	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs781290905 CA4261566	658	K>R		No	ClinGen ExAC gnomAD
CA4261565 rs754751861	659	D>G		No	ClinGen ExAC TOPMed gnomAD
CA367527328 rs1471477815	659	D>H		No	ClinGen gnomAD
rs751395375 CA4261564	663	Y>C		No	ClinGen ExAC gnomAD
rs766250680 CA4261563	665	N>D		No	ClinGen ExAC gnomAD
CA367527182 rs1294782237	665	N>T		No	ClinGen Ensembl
CA367527169 rs1253893429	666	W>*		No	ClinGen gnomAD
rs374831225 CA4261562	667	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs750127955 CA4261561	668	K>R		No	ClinGen ExAC TOPMed gnomAD
CA4261560 rs547154242	669	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA4261559 rs761402407	671	G>R		No	ClinGen ExAC gnomAD
CA4261558 rs141178380	672	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA367527081 rs1327483991	674	K>M		No	ClinGen gnomAD
rs533314077 CA4261557	674	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD

No associated diseases with Q6PIW4

4 regional properties for Q6PIW4

Type	Name	Position	InterPro Accession
domain	AAA+ ATPase domain	433 - 569	IPR003593
domain	ATPase, AAA-type, core	437 - 567	IPR003959
conserved_site	ATPase, AAA-type, conserved site	539 - 558	IPR003960
domain	Spastin/Vps4, C-terminal	637 - 671	IPR015415

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm Cytoplasm, perinuclear region	Together with RAD51 and a subset of H2A histone proteins, redistributed in discrete nuclear DNA damage-induced foci after ionizing radiation (IR) treatment (PubMed:23754376)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
nuclear chromosome	A chromosome that encodes the nuclear genome and is found in the nucleus of a eukaryotic cell during the cell cycle phases when the nucleus is intact.
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.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.

5 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.
hydrolase activity	Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc.
magnesium ion binding	Binding to a magnesium (Mg) ion.
microtubule severing ATPase activity	Catalysis of the reaction: ATP + H2O = ADP + phosphate. Catalysis of the severing of a microtubule at a specific spot along its length, coupled to the hydrolysis of ATP.

9 GO annotations of biological process

Name	Definition
ATP metabolic process	The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator.
cellular response to ionizing radiation	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a ionizing radiation stimulus. Ionizing radiation is radiation with sufficient energy to remove electrons from atoms and may arise from spontaneous decay of unstable isotopes, resulting in alpha and beta particles and gamma rays. Ionizing radiation also includes X-rays.
male meiotic nuclear division	A cell cycle process by which the cell nucleus divides as part of a meiotic cell cycle in the male germline.
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of intrinsic apoptotic signaling pathway	Any process that stops, prevents or reduces the frequency, rate or extent of intrinsic apoptotic signaling pathway.
osteoblast differentiation	The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone.
osteoblast proliferation	The multiplication or reproduction of osteoblasts, resulting in the expansion of an osteoblast cell population. An osteoblast is a bone-forming cell which secretes an extracellular matrix. Hydroxyapatite crystals are then deposited into the matrix to form bone.
regulation of cell cycle	Any process that modulates the rate or extent of progression through the cell cycle.
regulation of double-strand break repair via homologous recombination	Any process that modulates the frequency, rate or extent of the error-free repair of a double-strand break in DNA in which the broken DNA molecule is repaired using homologous sequences.

9 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9VQN8	CG3326	Fidgetin-like protein 1	Drosophila melanogaster (Fruit fly)	PR
O75351	VPS4B	Vacuolar protein sorting-associated protein 4B	Homo sapiens (Human)	PR
Q9UN37	VPS4A	Vacuolar protein sorting-associated protein 4A	Homo sapiens (Human)	EV
O75449	KATNA1	Katanin p60 ATPase-containing subunit A1	Homo sapiens (Human)	PR
Q9UBP0	SPAST	Spastin	Homo sapiens (Human)	PR
A6NCM1	IQCA1L	IQ and AAA domain-containing protein 1-like	Homo sapiens (Human)	PR
Q86XH1	IQCA1	Dynein regulatory complex protein 11	Homo sapiens (Human)	PR
A6H690	Iqca1l	IQ and AAA domain-containing protein 1-like	Mus musculus (Mouse)	PR
Q6AXQ7	Iqca1l	IQ and AAA domain-containing protein 1-like	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MQTSSSRSVH	LSEWQKNYFA	ITSGICTGPK	ADAYRAQILR	IQYAWANSEI	SQVCATKLFK
70	80	90	100	110	120
KYAEKYSAII	DSDNVESGLN	NYAENILTLA	GSQQTDSDKW	QSGLSINNVF	KMSSVQKMMQ
130	140	150	160	170	180
AGKKFKDSLL	EPALASVVIH	KEATVFDLPK	FSVCGSSQES	DSLPNSAHDR	DRTQDFPESN
190	200	210	220	230	240
RLKLLQNAQP	PMVTNTARTC	PTFSAPVGES	ATAKFHVTPL	FGNVKKENHS	SAKENIGLNV
250	260	270	280	290	300
FLSNQSCFPA	ACENPQRKSF	YGSGTIDALS	NPILNKACSK	TEDNGPKEDS	SLPTFKTAKE
310	320	330	340	350	360
QLWVDQQKKY	HQPQRASGSS	YGGVKKSLGA	SRSRGILGKF	VPPIPKQDGG	EQNGGMQCKP
370	380	390	400	410	420
YGAGPTEPAH	PVDERLKNLE	PKMIELIMNE	IMDHGPPVNW	EDIAGVEFAK	ATIKEIVVWP
430	440	450	460	470	480
MLRPDIFTGL	RGPPKGILLF	GPPGTGKTLI	GKCIASQSGA	TFFSISASSL	TSKWVGEGEK
490	500	510	520	530	540
MVRALFAVAR	CQQPAVIFID	EIDSLLSQRG	DGEHESSRRI	KTEFLVQLDG	ATTSSEDRIL
550	560	570	580	590	600
VVGATNRPQE	IDEAARRRLV	KRLYIPLPEA	SARKQIVINL	MSKEQCCLSE	EEIEQIVQQS
610	620	630	640	650	660
DAFSGADMTQ	LCREASLGPI	RSLQTADIAT	ITPDQVRPIA	YIDFENAFRT	VRPSVSPKDL
670
ELYENWNKTF	GCGK