AiPD: Autoinhibited Protein Database

Q15397

Gene name	PUM3
Protein name	Pumilio homolog 3
Names	HBV X-transactivated gene 5 protein, HBV XAg-transactivated protein 5, Minor histocompatibility antigen HA-8, HLA-HA8
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9933
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-155 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-155 (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 Q15397

Entry ID	Method	Resolution	Chain	Position	Source
4WZR	X-ray	215 A	A/B	123-648	PDB
4WZW	X-ray	295 A	A	129-648	PDB
AF-Q15397-F1	Predicted				AlphaFoldDB

771 variants for Q15397

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA372800796 rs1476676340	2	E>Q		No	ClinGen TOPMed
CA187984256 rs751576636	3	V>D		No	ClinGen ExAC TOPMed gnomAD
rs1230659057 CA372800774	3	V>F		No	ClinGen TOPMed gnomAD
CA4966855 rs751576636	3	V>G		No	ClinGen ExAC TOPMed gnomAD
CA4966854 rs200648134	7	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4966853 rs762566946	8	Q>R		No	ClinGen ExAC gnomAD
rs1376951133 CA372800680	9	F>L		No	ClinGen TOPMed
rs1318633136 CA372800678	10	T>P		No	ClinGen TOPMed gnomAD
rs1357294945 CA372800672	11	G>R		No	ClinGen TOPMed
rs1387852842 CA372800661	12	K>N		No	ClinGen gnomAD
rs566093360 CA4966852	12	K>R		No	ClinGen ExAC TOPMed gnomAD
rs759294824 CA4966850	13	S>G		No	ClinGen ExAC gnomAD
VAR_051613 CA4966849 rs10968457	13	S>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs759294824 CA4966851	13	S>R		No	ClinGen ExAC gnomAD
CA372800636 rs1225961229	16	T>R		No	ClinGen TOPMed
CA372800629 rs1411425877	17	A>V		No	ClinGen TOPMed gnomAD
CA4966848 rs771384491	18	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA4966846 rs778381965	21	N>K		No	ClinGen ExAC
rs1449187381 CA372800601	21	N>S		No	ClinGen TOPMed
TCGA novel	21	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747328924 CA4966847	21	N>Y		No	ClinGen ExAC gnomAD
CA372800595 rs1186150626	22	R>T		No	ClinGen gnomAD
CA372800590 rs1217174645	23	F>L		No	ClinGen TOPMed
COSM1331587 CA4966844 rs772434075	24	H>L	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	24	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4966843 rs748601867	26	N>T		No	ClinGen ExAC gnomAD
rs372804076 CA4966842	27	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758200088 CA4966818	29	S>A		No	ClinGen ExAC gnomAD
rs752695500 CA4966817	29	S>F		No	ClinGen ExAC gnomAD
rs758200088 CA372800456	29	S>T		No	ClinGen ExAC gnomAD
rs765261748 CA4966816	30	G>D		No	ClinGen ExAC gnomAD
CA372800447 rs1171927852	30	G>R		No	ClinGen gnomAD
rs765261748 CA187983313	30	G>V		No	ClinGen ExAC gnomAD
CA187983309 rs1027761981	31	S>Y		No	ClinGen TOPMed
TCGA novel	32	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1425039882 CA372800414	33	K>E		No	ClinGen gnomAD
CA4966815 rs754573824	33	K>R		No	ClinGen ExAC TOPMed gnomAD
CA372800401 rs1481614543	34	T>A		No	ClinGen gnomAD
CA4966814 rs753264176	36	P>A		No	ClinGen ExAC TOPMed gnomAD
CA372800367 rs1428560003	36	P>L		No	ClinGen TOPMed gnomAD
rs1428560003 CA372800365	36	P>Q		No	ClinGen TOPMed gnomAD
TCGA novel	36	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs570038331 CA4966813	37	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs549907541 CA4966811	38	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs372338845 CA372800332	39	K>E		No	ClinGen 1000Genomes ESP TOPMed
CA4966809 rs372338845	39	K>Q		No	ClinGen 1000Genomes ESP TOPMed
CA4966808 rs767879045	40	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1277804262 CA372800300	41	A>T		No	ClinGen TOPMed gnomAD
CA187983278 rs944963222	41	A>V		No	ClinGen Ensembl
CA4966807 rs762156382	42	K>E		No	ClinGen ExAC gnomAD
CA372800207 rs1350757652	46	P>L		No	ClinGen gnomAD
CA372800208 rs1350757652	46	P>R		No	ClinGen gnomAD
CA372800203 rs1464083235	47	K>E		No	ClinGen gnomAD
CA4966803 rs561872127	47	K>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA372800199 rs561872127	47	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769880207 CA4966801	49	T>I		No	ClinGen ExAC gnomAD
CA4966800 rs746082213	50	S>C		No	ClinGen ExAC TOPMed gnomAD
CA187983222 rs746082213	50	S>F		No	ClinGen ExAC TOPMed gnomAD
rs746082213 CA372800146	50	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA187983215 rs911883035	51	R>G		No	ClinGen Ensembl
rs781418312 CA4966799	52	N>K		No	ClinGen ExAC TOPMed gnomAD
CA372800090 rs1181934892	52	N>S		No	ClinGen gnomAD
rs953484357 CA187983192	53	F>L		No	ClinGen TOPMed gnomAD
rs1252892082 CA372800079	53	F>L		No	ClinGen gnomAD
CA4966798 rs200897206	53	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4966797 rs779040568	54	E>G		No	ClinGen ExAC gnomAD
TCGA novel	54	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779040568 CA4966796	54	E>V		No	ClinGen ExAC gnomAD
CA372800030 rs1325610022	55	K>R		No	ClinGen gnomAD
rs1325610022 CA372800032	55	K>T		No	ClinGen gnomAD
CA372799981 rs1329664284 COSM161892	57	I>M	NS [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs376378791 CA4966794	57	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA372799966 rs1249647473	58	T>R		No	ClinGen TOPMed
CA372799952 rs1417252952	59	K>T		No	ClinGen TOPMed
CA4966793 rs753765535	60	L>F		No	ClinGen ExAC gnomAD
CA372799931 rs1393991833	60	L>R		No	ClinGen gnomAD
rs372050840 CA372799904	62	K>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA4966792 rs372050840	62	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs750097840 CA4966790	63	K>M		No	ClinGen ExAC TOPMed gnomAD
COSM3413583 rs750097840 CA372799875	63	K>R	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4966789 rs201992068	64	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs751901387 CA4966787	64	G>D		No	ClinGen ExAC gnomAD
CA4966788 rs201992068	64	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4966786 rs764396689	65	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1365974206 CA372799835	65	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA372799839 rs1365974206	65	V>L		No	ClinGen gnomAD
CA187983090 rs570743183	68	F>C		No	ClinGen 1000Genomes TOPMed gnomAD
CA4966785 rs201447503	68	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA372799756 rs1335492252	69	K>R		No	ClinGen TOPMed
rs776001344 CA4966784	70	N>S		No	ClinGen ExAC gnomAD
rs1262343013 CA372799717	72	Q>R		No	ClinGen gnomAD
CA372799697 rs1340222940	73	Q>H		No	ClinGen TOPMed
rs777032440 CA4966781	73	Q>K		No	ClinGen ExAC gnomAD
rs1320798016 CA372799693	74	G>R		No	ClinGen gnomAD
CA372799663 rs1563836108	76	K>T		No	ClinGen Ensembl
rs1563836104 CA372799643	78	P>T		No	ClinGen Ensembl
CA372799621 COSM261533 rs1247482331	79	K>N	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1001570977 CA187983056	79	K>R		No	ClinGen Ensembl
CA4966780 rs771254376	80	N>S		No	ClinGen ExAC
CA4966779 rs747178136	81	K>E		No	ClinGen ExAC TOPMed gnomAD
CA372799596 rs1320399288	81	K>R		No	ClinGen gnomAD
rs778879088 CA4966778	82	F>C		No	ClinGen ExAC gnomAD
rs778879088 CA372799580	82	F>S		No	ClinGen ExAC gnomAD
CA372799572 rs1292204580	83	Q>*		No	ClinGen gnomAD
rs749192751 CA4966776	83	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA4966773 rs201936048	84	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4966774 rs201936048	84	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4966775 rs201936048	84	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1369235251 CA372799561	84	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA372799536 rs1479595454	86	N>H		No	ClinGen TOPMed
rs552128111 CA187983027	86	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs773816251 CA4966771	88	F>V		No	ClinGen ExAC
rs751174978 CA4966769	89	N>D		No	ClinGen ExAC TOPMed gnomAD
rs112185565 CA4966767	89	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4966768 rs112185565	89	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753202855 CA4966766	90	K>R		No	ClinGen ExAC gnomAD
CA372799349 rs1250065855	93	K>R		No	ClinGen TOPMed
CA4966764 rs376054493	94	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1586728951 CA372799332	94	F>S		No	ClinGen Ensembl
CA372799321 rs1169772675	95	Q>E		No	ClinGen TOPMed
rs1291987634 CA372799310	95	Q>H		No	ClinGen gnomAD
rs1224267580 CA372799285	97	D>G		No	ClinGen gnomAD
rs201647648 CA4966762	98	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA4966761 rs201647648	98	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1430043772 CA372799260	99	R>G		No	ClinGen gnomAD
rs1563836043 CA372799243	99	R>S		No	ClinGen Ensembl
rs952553092 CA187982997	100	S>G		No	ClinGen TOPMed
rs773508342 CA372799221	100	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1296317922 CA372799229	100	S>T		No	ClinGen gnomAD
rs562898502 CA4966759	101	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1200376462 CA372797976	103	S>P		No	ClinGen gnomAD
CA372797937 rs1265354155	106	K>E		No	ClinGen gnomAD
rs1226900827 CA372797935	106	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs766986084 CA4966723	108	P>L		No	ClinGen ExAC TOPMed gnomAD
rs754449386 CA4966724	108	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1158296691 CA372797913	109	K>R		No	ClinGen gnomAD
CA187980225 rs749788204	110	W>*		No	ClinGen gnomAD
CA4966722 rs756299455	110	W>C		No	ClinGen ExAC gnomAD
rs750511836 CA4966721	114	K>R		No	ClinGen ExAC gnomAD
CA4966719 rs1455542440	115	K>N		No	ClinGen TOPMed gnomAD
CA372797867 rs1406783596	115	K>R		No	ClinGen gnomAD
rs1178532332 CA372797860	116	K>R		No	ClinGen gnomAD
rs186041778 CA4966717	122	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762131294 CA4966716	123	S>C		No	ClinGen ExAC gnomAD
CA372797810 rs1400450176	123	S>N		No	ClinGen TOPMed
rs114287488 CA4966715	124	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA187980183 rs765093972	125	Q>E		No	ClinGen ExAC gnomAD
CA4966714 rs765093972	125	Q>K		No	ClinGen ExAC gnomAD
CA4966713 rs184075081 COSM1197351	126	L>P	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA372797785 rs1235733931	126	L>V		No	ClinGen TOPMed
CA372797774 rs770825637	127	S>C		No	ClinGen ExAC TOPMed gnomAD
CA4966711 rs770825637	127	S>G		No	ClinGen ExAC TOPMed gnomAD
rs746898956 CA4966710	128	D>G		No	ClinGen ExAC gnomAD
CA4966709 rs772808674	131	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1288864671 CA372797717	131	N>K		No	ClinGen TOPMed
rs370230841 CA4966708	132	Y>C		No	ClinGen ExAC gnomAD
rs1283639483 CA372797715	132	Y>H		No	ClinGen TOPMed gnomAD
rs374981902 CA187980119	134	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs374981902 CA4966706	134	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA372797660 rs372409722	137	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA4966703 rs780759295	137	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs372409722 CA4966704	137	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs750924701 CA4966701	138	A>G		No	ClinGen ExAC gnomAD
CA372797631 rs1386562595	140	Q>*		No	ClinGen gnomAD
CA4966700 rs781340473	141	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1380856328 CA372797578	143	E>G		No	ClinGen Ensembl
CA372797584 rs1449450338	143	E>Q		No	ClinGen gnomAD
rs923446763 CA372797553	145	L>*		No	ClinGen TOPMed gnomAD
CA187980087 rs923446763	145	L>S		No	ClinGen TOPMed gnomAD
CA372797546 rs1270590289	146	R>G		No	ClinGen gnomAD
rs376563747 CA187979504	149	D>G		No	ClinGen ESP
rs1282462460 CA372797452	149	D>H		No	ClinGen gnomAD
CA372797450 rs1282462460	149	D>Y		No	ClinGen gnomAD
rs751564407 CA4966677	150	C>*		No	ClinGen ExAC gnomAD
CA4966676 rs748383609	150	C>*		No	ClinGen ExAC gnomAD
rs1405151861 CA372797439	150	C>R		No	ClinGen gnomAD
CA372797428 rs1305828522	151	D>N		No	ClinGen gnomAD
rs778019262 CA4966675	152	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	153	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4966674 rs758648743	153	E>D		No	ClinGen ExAC gnomAD
rs372279353 CA187979494	153	E>G		No	ClinGen ESP TOPMed gnomAD
CA187979493 rs879103318	154	K>R		No	ClinGen Ensembl
rs752848143 CA4966673	155	R>G		No	ClinGen ExAC gnomAD
rs554604549	155	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA372797358 rs1341533372	156	V>A		No	ClinGen TOPMed
CA372797362 rs1249832842	156	V>L		No	ClinGen gnomAD
CA4966671 rs760449250	157	K>E		No	ClinGen ExAC TOPMed gnomAD
CA4966670 rs750436963	157	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1206520719 CA372797338	158	L>S		No	ClinGen gnomAD
CA187979470 rs1022147701	159	M>V		No	ClinGen TOPMed
rs1262244059 CA372797267	164	K>R		No	ClinGen TOPMed gnomAD
rs1223852144 CA372797248	165	L>F		No	ClinGen gnomAD
rs1011180454 CA187979466	166	I>T		No	ClinGen TOPMed
rs1325449973 CA372797231 COSM1108068	167	Q>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs761432772 CA4966668	172	T>A		No	ClinGen ExAC
rs574415209 CA4966639	174	A>V		No	ClinGen ExAC TOPMed gnomAD
CA4966636 rs779152096	177	H>D		No	ClinGen ExAC TOPMed gnomAD
CA372796550 rs1446426961	177	H>R		No	ClinGen gnomAD
CA372796531 rs1293207541	178	D>G		No	ClinGen TOPMed
rs749489716 CA372796538 COSM1108067	178	D>N	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs749489716 CA4966634	178	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs780856090 CA4966633	179	S>L		No	ClinGen ExAC TOPMed gnomAD
CA372796503 rs1219804185	180	T>S		No	ClinGen gnomAD
rs751608520 CA4966631	180	T>S		No	ClinGen ExAC TOPMed gnomAD
CA4966630 COSM1461940 rs758022107	181	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs758022107 CA4966629	181	R>G		No	ClinGen ExAC gnomAD
COSM1461939 rs1460072058 CA372796491	181	R>H	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs752235273 CA4966628	182	V>M		No	ClinGen ExAC gnomAD
rs764756748 CA4966627	183	I>M		No	ClinGen ExAC gnomAD
rs940999053 CA187977622	184	Q>H		No	ClinGen TOPMed
CA586168670 rs1295537015	186	Y>*		No	ClinGen TOPMed gnomAD
CA372796395 rs1383079509	187	I>L		No	ClinGen gnomAD
rs141834527 CA4966626	188	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs563094261 CA4966625	189	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA187977613 rs1044316512	189	Y>C		No	ClinGen TOPMed
rs1291932388 CA372796369 COSM1461937	189	Y>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA372796357 rs1563833669	190	G>S		No	ClinGen Ensembl
CA372796338 rs1228241840	192	E>K		No	ClinGen Ensembl
rs931246335 COSM275666 CA187977593	193	E>K	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs200685148 CA4966624	194	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs200685148 CA372796309	194	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA372796271 rs1371223220	197	Q>*		No	ClinGen gnomAD
CA372796263 rs1428826093	197	Q>H		No	ClinGen TOPMed gnomAD
CA4966623 rs761095889	197	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA4966622 rs773744912	198	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1263670414 CA372796260	198	A>P		No	ClinGen gnomAD
CA187977584 rs773744912	198	A>V		No	ClinGen ExAC TOPMed gnomAD
CA4966620 rs748601904	199	F>C		No	ClinGen ExAC gnomAD
rs377017737 CA4966621	199	F>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA4966618 rs375052256	203	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA187977535 rs375052256	203	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs370834085 CA4966617	203	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA372796153 rs770035848	205	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4966597 rs770035848	205	D>Y		No	ClinGen ExAC gnomAD
CA372796137 rs777743765	206	L>F		No	ClinGen ExAC gnomAD
CA4966596 rs145833702	206	L>S		No	ClinGen ESP ExAC
rs771933148 CA4966594	207	V>I		No	ClinGen ExAC gnomAD
CA4966593 rs200887718	208	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs949790121 CA187977207	208	E>Q		No	ClinGen TOPMed gnomAD
CA4966592 rs201623644	209	L>*		No	ClinGen ExAC gnomAD
rs1473082189 CA372796114	209	L>I		No	ClinGen TOPMed
CA372796103 rs1241779268	210	S>G		No	ClinGen TOPMed gnomAD
CA372796099 rs1203593660	210	S>N		No	ClinGen gnomAD
CA372796090 rs1462043710	211	K>E		No	ClinGen gnomAD
rs1265453043 CA372796085	211	K>R		No	ClinGen gnomAD
CA372796076 rs1350283373	212	A>P		No	ClinGen gnomAD
CA4966588 rs779379304	214	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4966587 rs755791650 COSM3848314	215	S>L	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4966585 rs767883563	217	N>H		No	ClinGen ExAC gnomAD
rs932438595 CA372796015	217	N>I		No	ClinGen TOPMed gnomAD
rs932438595 CA187977166	217	N>T		No	ClinGen TOPMed gnomAD
CA4966584 rs762154576	218	I>M		No	ClinGen ExAC gnomAD
rs1406520999 CA372796004	218	I>S		No	ClinGen TOPMed gnomAD
rs1406520999 CA372796006	218	I>T		No	ClinGen TOPMed gnomAD
rs1368008103 CA372796003	219	V>F		No	ClinGen TOPMed
rs934482048 CA187977136	219	V>G		No	ClinGen TOPMed gnomAD
CA187977123 rs922101487	221	K>E		No	ClinGen Ensembl
rs1383737044 CA372795984	221	K>T		No	ClinGen TOPMed gnomAD
rs752076463 CA4966583	223	L>R		No	ClinGen ExAC gnomAD
rs776778822 CA187977093	224	M>I		No	ClinGen TOPMed gnomAD
CA187977071 rs200643936	225	Y>*		No	ClinGen Ensembl
rs373954508 CA372795931	225	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA4966581 rs373954508	225	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1445821003 CA372795919	226	G>V		No	ClinGen TOPMed gnomAD
rs1173323407 CA372795530	227	S>G		No	ClinGen gnomAD
CA4966552 rs760756178	230	Q>L		No	ClinGen ExAC gnomAD
CA4966551 rs375775313	232	A>S		No	ClinGen ESP ExAC gnomAD
rs375775313 CA372795450	232	A>T		No	ClinGen ESP ExAC gnomAD
rs1013093618 CA187975972	234	I>T		No	ClinGen Ensembl
CA372795394 rs1202329355	235	I>T		No	ClinGen gnomAD
CA187975959 rs141030068	238	F>L		No	ClinGen ESP TOPMed gnomAD
CA4966548 rs775396023	238	F>S		No	ClinGen ExAC gnomAD
CA372795342 rs141030068	238	F>V		No	ClinGen ESP TOPMed gnomAD
rs371280326 CA187975952	239	K>E		No	ClinGen TOPMed gnomAD
rs938818371 CA187975947	240	G>A		No	ClinGen TOPMed gnomAD
CA4966547 rs769363799	240	G>S		No	ClinGen ExAC TOPMed gnomAD
CA372795286 rs1417446680	241	H>R		No	ClinGen TOPMed
TCGA novel	242	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4966544 rs151064539	242	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs558845198 CA4966545	242	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA4966543 rs746603179	244	K>*		No	ClinGen ExAC gnomAD
rs1355580841 CA372795226	245	M>L		No	ClinGen gnomAD
rs1333976123 CA372795208	246	L>V		No	ClinGen gnomAD
rs758633890 CA4966540	247	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1177405744 CA372795197 COSM1108065	247	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA187975898 rs753311824	248	H>N		No	ClinGen ExAC TOPMed gnomAD
CA187975886 rs953076880	248	H>R		No	ClinGen TOPMed
CA4966539 rs753311824	248	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA4966537 rs199616112	249	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA4966538 rs199616112 COSM3413582	249	A>V	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
TCGA novel	250	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1563833023 CA372795150	250	E>G		No	ClinGen Ensembl
rs139556218 CA4966535	251	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4966534 rs760953467	252	S>L		No	ClinGen ExAC gnomAD
rs750186876 CA372795119	253	A>P		No	ClinGen ExAC TOPMed gnomAD
CA4966533 rs750186876	253	A>T		No	ClinGen ExAC TOPMed gnomAD
rs762655084 CA372795099	254	I>M		No	ClinGen ExAC TOPMed gnomAD
CA372795110 rs1203880269	254	I>V		No	ClinGen TOPMed gnomAD
rs769701789 CA4966529	255	V>A		No	ClinGen ExAC gnomAD
CA4966530 rs146785349	255	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs139189443 CA372795061	257	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4966527 rs73377856	257	Y>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs62534389 CA187975824	258	A>P		No	ClinGen ExAC gnomAD
CA4966525 rs62534389 COSM3413581	258	A>T	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA4966524 rs757382214	258	A>V		No	ClinGen ExAC TOPMed gnomAD
rs748498419 CA4966522	259	Y>C		No	ClinGen ExAC gnomAD
rs1343607082 CA372795046	259	Y>H		No	ClinGen gnomAD
rs536311202 CA4966521	260	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs536311202 CA372795038	260	N>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4966520 rs755573340	261	D>E		No	ClinGen ExAC gnomAD
rs1180416464 CA372795013	262	K>E		No	ClinGen gnomAD
VAR_051614 rs35869387 CA4966518 RCV000969556	264	I>V		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs756132814 CA4966517	265	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1484123645 CA372794976	265	L>W		No	ClinGen gnomAD
CA372794943 rs1214719604	267	Q>R		No	ClinGen TOPMed gnomAD
rs750725732 CA4966516	268	R>G		No	ClinGen ExAC gnomAD
CA372794933 rs1287606465	268	R>T		No	ClinGen gnomAD
CA4966515 rs767604458	269	N>S		No	ClinGen ExAC gnomAD
CA4966514 CA187975749 rs370007578	270	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs370007578 CA4966513	270	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs149724707 CA372794887	272	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs149724707 CA4966512 COSM338400	272	T>M	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs556510946 CA4966510	276	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA4966509 rs776496682	277	G>A		No	ClinGen ExAC gnomAD
rs1139545 CA187975703	278	N>K		No	ClinGen Ensembl
rs1384481092 CA372794812	278	N>T		No	ClinGen gnomAD
rs770534523 CA4966508	278	N>Y		No	ClinGen ExAC gnomAD
rs201059766 CA4966506	279	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs201059766 CA372794804	279	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA4966507 rs760070514	279	T>P		No	ClinGen ExAC gnomAD
CA372794792 rs1586725889	280	F>C		No	ClinGen Ensembl
CA372794778 rs1185551255	281	Q>H		No	ClinGen gnomAD
CA4966504 rs372298847	284	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA4966476 rs757273496	285	S>*		No	ClinGen ExAC gnomAD
CA187974568 rs376800757	286	A>P		No	ClinGen gnomAD
rs747292953 CA4966475	287	D>V		No	ClinGen ExAC TOPMed gnomAD
CA372794386 rs139543678 CA4966474	288	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs386731748 CA187974542	288	H>QP		No	ClinGen Ensembl
CA187974564 rs974797274	288	H>Y		No	ClinGen TOPMed
CA4966473 rs754814072	289	R>G		No	ClinGen ExAC gnomAD
CA372794374 rs2173904	289	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2173904 CA4966471 VAR_023772	289	R>P	allele HA-8P and allele HA-8PL [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4966472 rs2173904	289	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756005709 CA4966470	290	T>N		No	ClinGen ExAC gnomAD
rs766993196 CA372794339	292	D>E		No	ClinGen ExAC TOPMed gnomAD
rs540277318 CA4966469	292	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1459364599 CA372794317	294	V>A		No	ClinGen gnomAD
rs201465798 CA4966466	296	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4966464 rs2270891	297	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4966463 VAR_023773 rs2270891	297	V>L	allele HA-8PL [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1335255484 CA372794272	298	Q>H		No	ClinGen gnomAD
rs537493626 CA4966462	298	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA372794268 rs1260501693	299	P>A		No	ClinGen TOPMed
rs777185887 CA4966460	300	E>G		No	ClinGen ExAC gnomAD
CA4966459 rs137936878 CA4966458	302	L>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA372794224 rs1431188643	303	E>*		No	ClinGen TOPMed
rs777778720 CA4966457	305	I>F		No	ClinGen ExAC TOPMed gnomAD
CA372794212 rs777778720	305	I>L		No	ClinGen ExAC TOPMed gnomAD
rs555602821 CA4966455	305	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758646587 CA4966456	305	I>T		No	ClinGen ExAC TOPMed gnomAD
CA4966453 rs755923388	306	M>K		No	ClinGen ExAC
CA4966454 rs147348344	306	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA187974455 rs147348344	306	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA372794176 rs1362778621	310	K>E		No	ClinGen gnomAD
rs944218481 CA187974442	311	Q>K		No	ClinGen Ensembl
CA372794149 rs1179792116	313	L>Q		No	ClinGen gnomAD
rs143778583 CA187974436	313	L>V		No	ClinGen Ensembl
rs188123994 CA4966452	314	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA187974431 rs985755420	315	P>R		No	ClinGen Ensembl
rs1449385486 CA372794122	316	M>T		No	ClinGen TOPMed
rs376706931 COSM4152239 CA4966450	316	M>V	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA187972858 rs757292562	320	E>D		No	ClinGen ExAC TOPMed gnomAD
CA372793935 rs1225010661	321	A>G		No	ClinGen gnomAD
rs751477052 CA4966429	322	V>A		No	ClinGen ExAC gnomAD
rs777443004 CA4966428	323	I>V		No	ClinGen ExAC gnomAD
CA4966426 rs752362518	324	K>N		No	ClinGen ExAC TOPMed gnomAD
CA372793898 rs1323464217	325	H>Y		No	ClinGen gnomAD
rs1196120482 CA372793857	328	V>E		No	ClinGen gnomAD
CA372793859 rs1424527138	328	V>L		No	ClinGen gnomAD
CA4966422 rs766660254	329	H>Y		No	ClinGen ExAC gnomAD
CA372793825 rs1220709187	331	V>I		No	ClinGen gnomAD
rs1563831980 CA372793789	333	L>F		No	ClinGen Ensembl
rs1327551861 CA372793782	334	D>A		No	ClinGen gnomAD
rs1291967183 CA372793776	334	D>E		No	ClinGen gnomAD
CA372793786 rs1452069815	334	D>Y		No	ClinGen gnomAD
rs1050647317 CA187972747	335	F>I		No	ClinGen TOPMed
CA4966420 rs773695748	335	F>S		No	ClinGen ExAC gnomAD
CA372793771 rs1050647317	335	F>V		No	ClinGen TOPMed
TCGA novel	336	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1178995767 CA372793751	336	F>Y		No	ClinGen TOPMed
rs761919592 CA4966417	337	T>S		No	ClinGen ExAC
CA372793731 rs1220154991	338	Y>C		No	ClinGen TOPMed gnomAD
rs774484372 CA4966416	339	A>T		No	ClinGen ExAC gnomAD
COSM393852 CA4966415 rs768947089	339	A>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs749433160 CA4966414	340	P>R		No	ClinGen ExAC gnomAD
rs1163890073 CA372793714	340	P>T		No	ClinGen gnomAD
rs781139610 CA4966413	341	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1352072714 CA372793702	341	P>S		No	ClinGen gnomAD
CA372793700 rs1352072714	341	P>T		No	ClinGen gnomAD
rs770792573 CA372793686	342	K>I		No	ClinGen ExAC gnomAD
rs749329036	342	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749329036	342	K>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs770792573 CA4966410	342	K>T		No	ClinGen ExAC gnomAD
CA4966408 rs777852143	343	L>V		No	ClinGen ExAC gnomAD
rs1479056479 CA372793670	344	R>G		No	ClinGen TOPMed gnomAD
rs747675244 CA4966407	344	R>I		No	ClinGen ExAC TOPMed gnomAD
CA4966404 rs367888081	344	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4966406 rs747675244	344	R>T		No	ClinGen ExAC TOPMed gnomAD
CA372793655 rs201465000	345	S>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4966403 rs201465000	345	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA372793330 rs1160382802	347	M>T		No	ClinGen TOPMed gnomAD
rs928746030 CA187970140	347	M>V		No	ClinGen TOPMed gnomAD
CA4966381 rs767735218	348	I>T		No	ClinGen ExAC gnomAD
rs1255283346 CA372793292	350	A>P		No	ClinGen gnomAD
rs1182062588 CA372793284	350	A>V		No	ClinGen gnomAD
TCGA novel	351	I>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372793263 COSM3780733 rs1323567793	352	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed
CA4966378 rs148383025	352	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA372793259 rs148383025	352	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1285679562 CA372793240 COSM1624896	353	E>D	liver [Cosmic]	No	ClinGen cosmic curated Ensembl
CA372793244 rs775898601	353	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1288777773 CA372793253	353	E>K		No	ClinGen gnomAD
CA4966376 rs775898601	353	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1321475805 CA372793238	354	A>S		No	ClinGen TOPMed gnomAD
CA187970096 rs367908750	354	A>V		No	ClinGen gnomAD
rs946078552 CA4966374	355	V>A		No	ClinGen TOPMed
rs765536458 CA4966373	356	V>F		No	ClinGen ExAC gnomAD
CA4966372 rs781640015	358	L>V		No	ClinGen ExAC gnomAD
CA372793187 rs1400612796	359	A>T		No	ClinGen gnomAD
CA372793177 rs1274845399	359	A>V		No	ClinGen TOPMed gnomAD
CA4966371 rs773061327	360	H>D		No	ClinGen ExAC gnomAD
rs773061327 CA372793173	360	H>Y		No	ClinGen ExAC gnomAD
CA372793156 rs1456372554	361	T>I		No	ClinGen gnomAD
rs1456372554 CA372793158	361	T>K		No	ClinGen gnomAD
CA372793157 rs1456372554	361	T>R		No	ClinGen gnomAD
CA372793155 rs1165167292	362	H>N		No	ClinGen gnomAD
rs748170215 CA4966370	362	H>Q		No	ClinGen ExAC gnomAD
TCGA novel	363	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143370878 CA4966367	363	D>N		No	ClinGen ESP TOPMed gnomAD
rs1192574643 CA372793131	365	A>G		No	ClinGen gnomAD
CA187969913 rs990396714	365	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs774148520 CA4966365	366	R>K		No	ClinGen ExAC TOPMed gnomAD
CA372793127 rs774148520	366	R>T		No	ClinGen ExAC TOPMed gnomAD
rs1488420075 CA372793116	368	A>P		No	ClinGen gnomAD
rs748773649 CA4966363	368	A>V		No	ClinGen ExAC TOPMed gnomAD
CA4966361 rs769466046	370	H>L		No	ClinGen ExAC TOPMed gnomAD
CA372793099 rs769466046	370	H>P		No	ClinGen ExAC TOPMed gnomAD
CA372793100 rs769466046	370	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1314411579 CA372793094	371	C>F		No	ClinGen TOPMed
rs371181473 CA187969887	371	C>G		No	ClinGen ESP TOPMed gnomAD
rs781632154 CA4966359	373	W>C		No	ClinGen ExAC TOPMed gnomAD
rs757550173 CA372793073	374	H>L		No	ClinGen ExAC gnomAD
CA4966358 rs757550173	374	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1231174165 CA372793069	375	G>S		No	ClinGen TOPMed
CA4966357 rs188928902	376	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4966355 rs377742023	377	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA372793057 rs377742023	377	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752848876 CA4966354	378	K>E		No	ClinGen ExAC gnomAD
rs929470610 CA372792992	379	D>A		No	ClinGen TOPMed gnomAD
rs929470610 CA187968840	379	D>V		No	ClinGen TOPMed gnomAD
rs1345783357 CA372792978	380	R>K		No	ClinGen gnomAD
CA372792951 rs1238102553	382	V>E		No	ClinGen gnomAD
rs535536927 CA4966334	382	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1351357079 CA372792935	383	I>T		No	ClinGen TOPMed gnomAD
rs766487354 CA4966332	387	M>I		No	ClinGen ExAC TOPMed gnomAD
rs190147284 CA4966333	387	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1337377002 CA372792870	388	K>R		No	ClinGen gnomAD
CA187968818 rs149194557	389	T>A		No	ClinGen ESP TOPMed gnomAD
CA4966331 rs760902576	389	T>S		No	ClinGen ExAC TOPMed gnomAD
rs138265520 CA372792842	390	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1402252205 CA372792845	390	Y>C		No	ClinGen TOPMed gnomAD
rs1380163480 CA372792833	391	V>D		No	ClinGen gnomAD
rs1380163480 CA372792830	391	V>G		No	ClinGen gnomAD
CA372792802 rs1470336040	393	K>N		No	ClinGen TOPMed
CA372792806 rs763808813	393	K>R		No	ClinGen ExAC TOPMed gnomAD
rs763808813 CA4966329	393	K>T		No	ClinGen ExAC TOPMed gnomAD
CA4966328 rs762893697	394	V>E		No	ClinGen ExAC gnomAD
TCGA novel	395	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775393848 CA4966327	395	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1357503978 CA372792773	396	N>D		No	ClinGen TOPMed
rs201712358 CA187968733	396	N>K		No	ClinGen TOPMed gnomAD
rs1289087880 CA372792065	397	G>S		No	ClinGen TOPMed
rs140589078 CA4966302	399	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1227137056 CA372792028	400	S>A		No	ClinGen TOPMed
TCGA novel	401	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA187964667 rs892082289	402	L>W		No	ClinGen TOPMed
rs146797511 CA372791987	403	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs146797511 CA4966301	403	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs772602035 CA4966300	406	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4966298 rs774806237	407	A>V		No	ClinGen ExAC gnomAD
rs1183653313 CA372791933	408	F>L		No	ClinGen TOPMed
rs749736222 CA4966296	409	D>N		No	ClinGen ExAC gnomAD
rs780010018 CA4966295	410	C>S		No	ClinGen ExAC gnomAD
rs1330553186 CA372791904	411	I>T		No	ClinGen Ensembl
CA372791908 rs1244840826	411	I>V		No	ClinGen gnomAD
rs554483819 CA4966292	412	D>A		No	ClinGen 1000Genomes ExAC gnomAD
rs554483819 CA4966293	412	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA4966294 rs148756256	412	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1316868183 CA372791884	413	D>G		No	ClinGen gnomAD
CA372791888 rs1196563253	413	D>Y		No	ClinGen gnomAD
CA4966289 rs3736390 RCV000949749 VAR_051615	414	T>S		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1175467294 CA372791866	415	K>Q		No	ClinGen TOPMed
rs893539915 CA372791856	416	L>H		No	ClinGen gnomAD
rs752514807 CA4966288	416	L>I		No	ClinGen ExAC gnomAD
rs893539915 CA187964626	416	L>P		No	ClinGen gnomAD
rs1274766916 CA372791852	417	V>L		No	ClinGen gnomAD
rs1237220732 CA372791838	419	Q>*		No	ClinGen gnomAD
rs1053976555 CA187964624	420	I>V		No	ClinGen Ensembl
CA187964623 rs1000364099	421	I>L		No	ClinGen gnomAD
rs1415890520 CA372791812	421	I>T		No	ClinGen TOPMed
rs565664019 CA4966286	422	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
CA4966285 rs193088045	423	S>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs193088045 CA4966284	423	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1482046616 CA372802239	426	I>F		No	ClinGen TOPMed gnomAD
CA372802231 rs1586718041	426	I>M		No	ClinGen Ensembl
CA4966253 rs191107173	430	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA187999281 rs191107173	430	P>R		No	ClinGen 1000Genomes ExAC gnomAD
CA4966252 rs150766325	432	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA372802145 rs1184986009	433	V>I		No	ClinGen TOPMed
CA372802130 rs1486368362	434	N>I		No	ClinGen gnomAD
CA372802132 rs1486368362	434	N>S		No	ClinGen gnomAD
rs1486368362 CA372802133	434	N>T		No	ClinGen gnomAD
rs1271405697 CA372802117	436	K>E		No	ClinGen TOPMed
rs1586718023 CA372802097	437	Y>*		No	ClinGen Ensembl
CA372802104 rs1354838486	437	Y>F		No	ClinGen gnomAD
rs927988914 CA187999277	437	Y>H		No	ClinGen TOPMed gnomAD
CA4966249 rs778020200	440	K>N		No	ClinGen ExAC gnomAD
CA372802061 rs1586718015	441	V>G		No	ClinGen Ensembl
CA4966248 rs140920207	442	L>P		No	ClinGen ESP ExAC gnomAD
CA4966245 rs756123588	444	Y>C		No	ClinGen ExAC gnomAD
rs1419060613 CA372802042	444	Y>N		No	ClinGen gnomAD
CA4966244 rs750327882	445	L>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	445	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4966243 rs151222510	446	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA372801974 rs1475894334	448	P>R		No	ClinGen TOPMed gnomAD
CA372801969 rs1172441622	449	R>G		No	ClinGen TOPMed
rs142216382 CA4966241	450	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA4966240 rs763782401	451	P>A		No	ClinGen ExAC TOPMed gnomAD
CA372801929 rs1284941872	451	P>L		No	ClinGen TOPMed
rs753139909 CA4966238	452	A>V		No	ClinGen ExAC gnomAD
CA4966237 rs760052993 COSM1489925	453	H>D	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1274023085 CA372801904	453	H>L		No	ClinGen TOPMed gnomAD
rs760052993 CA4966236	453	H>N		No	ClinGen ExAC TOPMed gnomAD
rs1274023085 CA372801907	453	H>R		No	ClinGen TOPMed gnomAD
CA4966235 rs777113095	454	T>R		No	ClinGen ExAC gnomAD
CA4966234 rs766482546	456	R>*		No	ClinGen ExAC TOPMed gnomAD
CA4966233 rs141380780	456	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4966232 rs147187141	457	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs145168362 CA187999260	459	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs145168362 CA4966231	459	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA372801818 rs1456197254	460	E>*		No	ClinGen gnomAD
rs1417865503 CA372801811	460	E>D		No	ClinGen TOPMed
rs1456197254 CA372801820	460	E>K		No	ClinGen gnomAD
rs1563826270 CA372801803	461	V>I		No	ClinGen Ensembl
CA372801781 rs1563826269	462	L>P		No	ClinGen Ensembl
rs1366614200 CA372801777	463	Q>*		No	ClinGen TOPMed
CA372801778 rs1366614200	463	Q>E		No	ClinGen TOPMed
CA187999256 rs940592776	463	Q>R		No	ClinGen Ensembl
rs748250721 CA4966230	464	K>E		No	ClinGen ExAC gnomAD
rs769698878 CA4966228	465	G>V		No	ClinGen ExAC TOPMed gnomAD
rs553432225 CA4966226	466	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4966224 rs534077734	467	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA372801690 rs1190035611	468	N>K		No	ClinGen gnomAD
CA372801688 rs1279639246	469	A>P		No	ClinGen TOPMed
CA372801676 rs1372457575	469	A>V		No	ClinGen TOPMed
rs750879430 CA4966195	471	S>R		No	ClinGen ExAC gnomAD
CA187999097 rs919572079	472	K>R		No	ClinGen TOPMed
CA4966194 rs767701942	473	K>N		No	ClinGen ExAC gnomAD
CA187999094 rs950642048	474	D>A		No	ClinGen gnomAD
CA372801506 rs950642048	474	D>V		No	ClinGen gnomAD
TCGA novel	474	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA187999092 COSM3848312 rs551241677	476	E>K	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA gnomAD
CA372801490 rs551241677	476	E>Q		No	ClinGen 1000Genomes gnomAD
rs761766869 COSM3413580 CA4966191	478	R>C	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs377692147 CA4966190	478	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs377692147 CA372801465	478	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA372801448 rs2270889	480	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4966188 VAR_051616 rs2270889	480	R>Q		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs772816773 CA4966189	480	R>W		No	ClinGen ExAC TOPMed gnomAD
CA372801431 rs1418740043	482	L>F		No	ClinGen TOPMed
rs776574300 CA4966187	482	L>P		No	ClinGen ExAC gnomAD
CA372801400 rs760726690	485	S>C		No	ClinGen ExAC TOPMed gnomAD
CA4966185 rs760726690	485	S>F		No	ClinGen ExAC TOPMed gnomAD
CA187999083 rs1038685311	485	S>P		No	ClinGen gnomAD
rs374667282 CA187999081	487	S>A		No	ClinGen ESP TOPMed gnomAD
CA4966183 rs139577827	487	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139577827 CA4966184	487	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	487	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747629466 CA372801385	488	P>A		No	ClinGen ExAC TOPMed gnomAD
CA4966182 rs747629466	488	P>S		No	ClinGen ExAC TOPMed gnomAD
CA372801361 rs1307482106	490	L>F		No	ClinGen TOPMed
CA4966180 rs748083630	490	L>S		No	ClinGen ExAC TOPMed gnomAD
CA372801362 rs748083630	490	L>W		No	ClinGen ExAC TOPMed gnomAD
RCV000975202 rs60717199 CA4966179	492	S>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4966176 rs750978628	493	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4966177 rs756429354	493	Y>H		No	ClinGen ExAC gnomAD
rs2270888 CA187999069 CA4966175	497	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs546343746 CA372801285	498	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4966173 rs546343746	498	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1259746575 CA372801280	498	A>V		No	ClinGen gnomAD
CA4966172 rs150702847	499	Q>E		No	ClinGen ESP ExAC gnomAD
CA372801251 rs1438150996	501	V>E		No	ClinGen TOPMed
CA372801253 rs1487237391	501	V>M		No	ClinGen gnomAD
TCGA novel	502	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4966169 rs766267083	503	L>I		No	ClinGen ExAC TOPMed gnomAD
CA187999062 rs916798207	504	D>G		No	ClinGen TOPMed gnomAD
rs996835827 CA187999059	506	S>F		No	ClinGen TOPMed
CA4966165 rs142006198	507	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA4966167 rs773006241	507	A>T		No	ClinGen ExAC TOPMed gnomAD
CA4966166 COSM178469 rs142006198	507	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA187999055 rs983969962	508	C>F		No	ClinGen gnomAD
rs1316872181 CA372801194	508	C>R		No	ClinGen TOPMed
rs148147075 CA187999050	512	S>C		No	ClinGen ESP TOPMed gnomAD
rs148147075 CA372801150	512	S>F		No	ClinGen ESP TOPMed gnomAD
CA372801152 rs1402792016	512	S>P		No	ClinGen gnomAD
CA372801133 rs749006386	514	I>F		No	ClinGen ExAC gnomAD
CA4966162 rs749006386	514	I>V		No	ClinGen ExAC gnomAD
rs1168548037 CA372801121	515	L>P		No	ClinGen gnomAD
rs1168548037 CA372801119	515	L>R		No	ClinGen gnomAD
CA372801114 rs1477541524	516	G>E		No	ClinGen gnomAD
CA187999049 rs746769927	516	G>R		No	ClinGen Ensembl
rs1586717516 CA372801109	517	S>P		No	ClinGen Ensembl
rs542481095 CA187999046	518	A>D		No	ClinGen Ensembl
CA4966160 rs770243894	518	A>T		No	ClinGen ExAC gnomAD
CA4966158 rs781581655	519	T>A		No	ClinGen ExAC gnomAD
rs145776780 CA4966157	519	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781581655 CA4966159	519	T>S		No	ClinGen ExAC gnomAD
rs370265483 CA4966156	521	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA372801087 rs1335022523	521	D>Y		No	ClinGen gnomAD
TCGA novel	522	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377439229 CA4966154	522	V>I		No	ClinGen ExAC TOPMed gnomAD
CA372801067 rs1271261634	524	P>S		No	ClinGen gnomAD
rs140645864 CA4966151	526	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA4966152 rs765359129	526	M>V		No	ClinGen ExAC gnomAD
CA372801040 rs1586717479	528	A>S		No	ClinGen Ensembl
CA372801034 rs1319634173	529	I>N		No	ClinGen Ensembl
CA4966150 rs138884267	529	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs761794383 CA4966148	530	A>G		No	ClinGen ExAC gnomAD
rs767282708 CA4966149	530	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA372801027 rs761794383	530	A>V		No	ClinGen ExAC gnomAD
rs892824858 CA187999035	531	S>I		No	ClinGen Ensembl
rs763633720 CA4966146	532	L>W		No	ClinGen ExAC gnomAD
CA4966145 rs762428206	534	A>T		No	ClinGen ExAC TOPMed gnomAD
CA4966144 rs775015977	534	A>V		No	ClinGen ExAC gnomAD
CA4966143 rs769362872	535	T>S		No	ClinGen ExAC gnomAD
rs745459172 CA4966142	537	L>V		No	ClinGen ExAC gnomAD
CA372800984 rs776874507	538	H>L		No	ClinGen ExAC TOPMed gnomAD
CA4966141 rs776874507	538	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1472940679 CA372800986	538	H>Y		No	ClinGen TOPMed
rs200292238 CA372800981	539	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4966139 rs200292238	539	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA187999029 rs200292238	539	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201128771 CA372800973	540	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA372800977 rs1411088901	540	G>C		No	ClinGen TOPMed
CA4966138 rs201128771	540	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758604090 CA4966137	542	K>E		No	ClinGen ExAC TOPMed gnomAD
CA4966136 rs369201804	542	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA372800950 COSM3745961 rs1303314770	544	G>*	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1191559050 CA372800909	548	I>N		No	ClinGen TOPMed
rs1191559050 CA372800908	548	I>T		No	ClinGen TOPMed
CA4966106 rs764691995	551	H>Q		No	ClinGen ExAC
rs752655706 CA4966107	551	H>Y		No	ClinGen ExAC gnomAD
CA4966105 rs372347055	552	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA4966104 rs753488822	552	P>R		No	ClinGen ExAC gnomAD
TCGA novel	553	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372800875 rs1435155115	554	G>R		No	ClinGen gnomAD
CA4966102 rs560961975	555	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1345624364 CA372800861	556	L>V		No	ClinGen TOPMed gnomAD
rs145029218 CA4966099	559	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs774919826 CA372800832 CA4966098	560	W>C		No	ClinGen ExAC TOPMed gnomAD
rs768677846 CA4966097	561	L>F		No	ClinGen ExAC TOPMed gnomAD
rs749400006 CA4966096	562	I>L		No	ClinGen ExAC gnomAD
rs903039148 CA187998805	562	I>T		No	ClinGen Ensembl
rs369722648 CA4966094	563	E>G		No	ClinGen ESP ExAC gnomAD
TCGA novel	563	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	563	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1401411520 CA372800790 COSM1554745	565	D>N	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA4966092 rs746040168	567	K>N		No	ClinGen ExAC TOPMed gnomAD
rs777592709 CA372800705	571	N>K		No	ClinGen ExAC TOPMed
CA372800707 rs1305894570	571	N>S		No	ClinGen gnomAD
CA372800698 rs1328500705	572	G>E		No	ClinGen TOPMed gnomAD
rs1246412263 CA372800702	572	G>R		No	ClinGen TOPMed
rs540270811 CA187998079	576	C>G		No	ClinGen TOPMed gnomAD
CA4966054 rs759596905	577	F>L		No	ClinGen ExAC gnomAD
CA372799325 rs1340105560	578	A>G		No	ClinGen TOPMed
CA187998073 rs201652261	578	A>S		No	ClinGen Ensembl
CA187998075 rs201652261	578	A>T		No	ClinGen Ensembl
CA187998070 rs946626431	579	K>E		No	ClinGen Ensembl
rs776631978 CA4966053	580	T>A		No	ClinGen ExAC gnomAD
CA4966052 rs771186255	581	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA372799274 rs1235159662	581	L>P		No	ClinGen gnomAD
CA4966051 rs747155246	582	V>I		No	ClinGen ExAC gnomAD
TCGA novel CA4966049 rs768308178	583	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed gnomAD
CA4966050 rs774255910	583	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1205642072 CA372799219	584	H>L		No	ClinGen gnomAD
TCGA novel	584	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4966048 rs749308426	584	H>Y		No	ClinGen ExAC gnomAD
rs1273160455 CA372799209	585	V>A		No	ClinGen TOPMed
rs149140589 CA4966047	585	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4966044 rs756059507	586	G>A		No	ClinGen ExAC gnomAD
CA372799193 rs756059507	586	G>D		No	ClinGen ExAC gnomAD
rs569177421 CA4966045	586	G>S		No	ClinGen 1000Genomes TOPMed gnomAD
CA187998046 rs939033962	587	M>I		No	ClinGen gnomAD
rs1452090072 CA372799149	588	K>T		No	ClinGen gnomAD
CA372799132 rs1201413580	589	N>Y		No	ClinGen TOPMed
rs201493570 CA4966042	590	L>M		No	ClinGen ExAC TOPMed gnomAD
CA4966041 rs201493570	590	L>V		No	ClinGen ExAC TOPMed gnomAD
rs751149439 CA4966039	592	S>F		No	ClinGen ExAC TOPMed gnomAD
rs145193617 CA4966037	593	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1201954994 CA372799054	594	A>G		No	ClinGen gnomAD
rs753258892 CA4966036	594	A>T		No	ClinGen ExAC
CA372799029 rs1449582311	595	S>I		No	ClinGen TOPMed
rs1449582311 CA372799032	595	S>N		No	ClinGen TOPMed
CA4966035 rs765743362	596	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1586715610 CA372799002 COSM1108062	597	N>D	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1239366741 CA372798989	597	N>S		No	ClinGen gnomAD
rs776719805 CA4966032 COSM1108061	598	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs776719805 CA372798978	598	R>G		No	ClinGen ExAC TOPMed gnomAD
CA4966031 rs766351655	598	R>Q		No	ClinGen ExAC gnomAD
rs969521278 CA187998025	599	G>D		No	ClinGen TOPMed
TCGA novel	600	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372798929 rs1337776544	602	I>V		No	ClinGen gnomAD
rs1023147364 CA187998024	603	L>F		No	ClinGen Ensembl
CA187998023 rs965175970	603	L>H		No	ClinGen TOPMed
CA187998022 rs201852844	604	S>F		No	ClinGen 1000Genomes
rs1265034440 CA372798421	606	L>H		No	ClinGen TOPMed
CA372798391 rs1250740570	609	S>G		No	ClinGen gnomAD
CA372798389 rs1250740570	609	S>R		No	ClinGen gnomAD
CA372798376 rs1212737225	610	C>Y		No	ClinGen gnomAD
rs376066313 CA187996780	611	D>H		No	ClinGen ESP TOPMed
CA372798359 rs1291355536	612	L>M		No	ClinGen gnomAD
rs759587102 CA4966005	612	L>P		No	ClinGen ExAC gnomAD
rs776426760 CA4966004	613	E>A		No	ClinGen ExAC gnomAD
rs770530535 CA4966003	615	A>S		No	ClinGen ExAC gnomAD
rs1231053511 CA372798316	616	N>K		No	ClinGen gnomAD
rs1586713935 CA372798320	616	N>S		No	ClinGen Ensembl
rs1175980600 CA372798297	619	K>Q		No	ClinGen TOPMed
rs1369300453 CA372798281	620	A>G		No	ClinGen gnomAD
CA372798275 rs1302909050	621	A>T		No	ClinGen gnomAD
CA4966002 rs746511430	621	A>V		No	ClinGen ExAC gnomAD
rs1187859234 CA372798262	622	L>R		No	ClinGen TOPMed
TCGA novel	623	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372798252 rs1351856034	623	K>R		No	ClinGen gnomAD
TCGA novel	624	S>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149753101 CA4966000	625	L>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4965999 rs753701694	627	P>A		No	ClinGen ExAC gnomAD
rs1169211792 CA372798210	627	P>R		No	ClinGen gnomAD
CA187996751 rs753701694	627	P>S		No	ClinGen ExAC gnomAD
CA4965997 rs12171	629	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1586713891 CA372798171	631	K>E		No	ClinGen Ensembl
rs750502135 CA4965993	632	T>I		No	ClinGen ExAC TOPMed gnomAD
rs750502135 CA4965992	632	T>N		No	ClinGen ExAC TOPMed gnomAD
rs750502135 CA4965994	632	T>S		No	ClinGen ExAC TOPMed gnomAD
CA372798154 rs1431174756	632	T>S		No	ClinGen Ensembl
rs377530369 CA4965990	634	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs377530369 CA4965989	634	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4965986 rs145258798	635	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1312284409 CA372798121	635	T>I		No	ClinGen TOPMed
CA4965988 rs145258798	635	T>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA372798118 rs1274292445	636	S>G		No	ClinGen gnomAD
CA372798112 rs1207967060	636	S>I		No	ClinGen gnomAD
CA372798108 rs1283588860	636	S>R		No	ClinGen gnomAD
rs944946382 CA187996707	637	K>T		No	ClinGen Ensembl
rs371814546 CA4965985	638	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4965984 rs760619245	639	I>K		No	ClinGen ExAC gnomAD
rs760619245 CA4965983	639	I>T		No	ClinGen ExAC gnomAD
CA372798036 rs1353027796	644	E>Q		No	ClinGen gnomAD
CA372798013 rs1261600196	646	L>M		No	ClinGen gnomAD
CA4965980 rs747865562	647	S>T		No	ClinGen ExAC gnomAD
rs773984059 CA4965979	648	T>A		No	ClinGen ExAC TOPMed gnomAD
rs200776122 CA187996695	649	T>Y		No	ClinGen 1000Genomes

No associated diseases with Q15397

8 regional properties for Q15397

Type	Name	Position	InterPro Accession
repeat	Pumilio RNA-binding repeat	165 - 200	IPR001313-1
repeat	Pumilio RNA-binding repeat	201 - 236	IPR001313-2
repeat	Pumilio RNA-binding repeat	237 - 273	IPR001313-3
repeat	Pumilio RNA-binding repeat	350 - 385	IPR001313-4
repeat	Pumilio RNA-binding repeat	386 - 422	IPR001313-5
repeat	Pumilio RNA-binding repeat	424 - 460	IPR001313-6
domain	CPL domain	434 - 573	IPR012959
domain	Pumilio homology domain	137 - 510	IPR033133

Functions

		Description
EC Number
Subcellular Localization	Nucleus, nucleolus Nucleus, nucleoplasm Chromosome	Localizes predominantly in the nucleolus with minor punctate signals in the nucleoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
chromosome	A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information.
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
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.

3 GO annotations of molecular function

Name	Definition
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
mRNA binding	Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns.
RNA binding	Binding to an RNA molecule or a portion thereof.

2 GO annotations of biological process

Name	Definition
regulation of protein ADP-ribosylation	Any process that modulates the frequency, rate or extent of protein ADP-ribosylation. Protein ADP-ribosylation is the transfer, from NAD, of ADP-ribose to protein amino acids.
regulation of translation	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8BKS9	Pum3	Pumilio homolog 3	Mus musculus (Mouse)	PR
Q562C7	Pum3	Pumilio homolog 3	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MEVKGKKQFT	GKSTKTAQEK	NRFHKNSDSG	SSKTFPTRKV	AKEGGPKVTS	RNFEKSITKL
70	80	90	100	110	120
GKKGVKQFKN	KQQGDKSPKN	KFQPANKFNK	KRKFQPDGRS	DESAAKKPKW	DDFKKKKKEL
130	140	150	160	170	180
KQSRQLSDKT	NYDIVVRAKQ	MWEILRRKDC	DKEKRVKLMS	DLQKLIQGKI	KTIAFAHDST
190	200	210	220	230	240
RVIQCYIQYG	NEEQRKQAFE	ELRDDLVELS	KAKYSRNIVK	KFLMYGSKPQ	IAEIIRSFKG
250	260	270	280	290	300
HVRKMLRHAE	ASAIVEYAYN	DKAILEQRNM	LTEELYGNTF	QLYKSADHRT	LDKVLEVQPE
310	320	330	340	350	360
KLELIMDEMK	QILTPMAQKE	AVIKHSLVHK	VFLDFFTYAP	PKLRSEMIEA	IREAVVYLAH
370	380	390	400	410	420
THDGARVAMH	CLWHGTPKDR	KVIVKTMKTY	VEKVANGQYS	HLVLLAAFDC	IDDTKLVKQI
430	440	450	460	470	480
IISEIISSLP	SIVNDKYGRK	VLLYLLSPRD	PAHTVREIIE	VLQKGDGNAH	SKKDTEVRRR
490	500	510	520	530	540
ELLESISPAL	LSYLQEHAQE	VVLDKSACVL	VSDILGSATG	DVQPTMNAIA	SLAATGLHPG
550	560	570	580	590	600
GKDGELHIAE	HPAGHLVLKW	LIEQDKKMKE	NGREGCFAKT	LVEHVGMKNL	KSWASVNRGA
610	620	630	640
IILSSLLQSC	DLEVANKVKA	ALKSLIPTLE	KTKSTSKGIE	ILLEKLST