AiPD: Autoinhibited Protein Database

P09874

Gene name	PARP1 (ADPRT, PPOL)
Protein name	Poly [ADP-ribose] polymerase 1
Names	PARP-1 , EC 2.4.2.30 , ADP-ribosyltransferase diphtheria toxin-like 1 , ARTD1 , DNA ADP-ribosyltransferase PARP1 , EC 2.4.2.- , NAD, + ADP-ribosyltransferase 1 , ADPRT 1 , Poly[ADP-ribose] synthase 1 , Protein poly-ADP-ribosyltransferase PARP1 , EC 2.4.2.- [Cleaved into: Poly [ADP-ribose] polymerase 1, processed C-terminus , Poly [ADP-ribose] polymerase 1, 89-kDa form; Poly [ADP-ribose] polymerase 1, processed N-terminus , NT-PARP-1 , Poly [ADP-ribose] polymerase 1, 24-kDa form , Poly [ADP-ribose] polymerase 1, 28-kDa form]
Species	Homo sapiens (Human)
KEGG Pathway	hsa:142
EC number	2.4.2.30: Pentosyltransferases
Protein Class

Descriptions

PARP2, also known as ARTD2, is an enzyme that becomes activated by DNA damage, specifically by 5′-phosphorylated DNA ends. It catalyzes poly-ADP-ribosylation, a post-translational modification involved in DNA repair processes. PARP2 plays a crucial role in DNA damage detection and repair, with its activity being essential for maintaining genomic stability and proper cellular function in response to genotoxic stress. In its inactive state, PARP2’s regulatory domain (RD) covers the active site, preventing substrate NAD+ binding. DNA damage recognition leads to RD unfolding and reorganization, enabling the enzyme to access and modify target macromolecules for ADP-ribosylation. The activation of PARP2 by DNA damage induces significant conformational changes in the enzyme, which relieve its autoinhibited state. This allows PARP2 to bind NAD+ and histone PARylation factor 1 (HPF1), altering its residue specificity during DNA repair.

Autoinhibitory domains (AIDs)

662-794 (RD domain) SS

Target domain	788-1014 (ART domain)
Relief mechanism	Ligand binding, Others
Assay

AID

662-794 (RD domain)

Target domain

788-1014 (ART domain)

Relief mechanism

Ligand binding (Interaction with DNA), Others (DNA damage)

Assay

Accessory elements

No accessory elements

References

Obaji E et al. (2021) "Activation of PARP2/ARTD2 by DNA damage induces conformational changes relieving enzyme autoinhibition", Nature communications, 12, 3479

Autoinhibited structure

Activated structure

0 structures for P09874

Entry ID	Method	Resolution	Chain	Position	Source
No available structures

1599 variants for P09874

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000678681 rs139924814	124	T>A	Hereditary renal cell carcinoma [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs769133844	2	A>G		No	ExAC TOPMed gnomAD
rs769133844	2	A>V		No	ExAC TOPMed gnomAD
rs2102750353	3	E>G		No	Ensembl
rs1347824092	4	S>C		No	TOPMed gnomAD
rs1347824092	4	S>F		No	TOPMed gnomAD
rs1339302801	4	S>P		No	TOPMed gnomAD
rs201256399	5	S>L		No	1000Genomes ExAC TOPMed gnomAD
rs2102750346	5	S>T		No	Ensembl
rs201256399	5	S>W		No	1000Genomes ExAC TOPMed gnomAD
rs1665185383	7	K>R		No	TOPMed
rs1665185383	7	K>T		No	TOPMed
rs1341567065	8	L>F		No	gnomAD
COSM1738398 rs770635699	9	Y>C	NS [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs746792662	10	R>P		No	ExAC TOPMed gnomAD
rs746792662	10	R>Q		No	ExAC TOPMed gnomAD
rs1488383078	11	V>I		No	TOPMed gnomAD
rs777484474	12	E>D		No	1000Genomes ExAC
rs2102750321	14	A>G		No	Ensembl
rs2102750324	14	A>T		No	Ensembl
rs1334838918	15	K>R		No	gnomAD
rs1336568282	16	S>G		No	TOPMed gnomAD
rs2102750316	16	S>N		No	Ensembl
rs2102750316	16	S>T		No	Ensembl
rs771934563	17	G>R		No	ExAC gnomAD
rs1432106341	18	R>C		No	TOPMed gnomAD
rs1432106341	18	R>G		No	TOPMed gnomAD
rs747988833	19	A>S		No	ExAC gnomAD
rs747988833	19	A>T		No	ExAC gnomAD
rs1665184611	20	S>A		No	TOPMed
rs778958457	20	S>F		No	ExAC gnomAD
rs1665184470	21	C>F		No	gnomAD
rs1665184470	21	C>Y		No	gnomAD
rs754981299	22	K>E		No	ExAC gnomAD
rs1185554480	23	K>N		No	gnomAD
rs1416842124	23	K>T		No	gnomAD
rs1665184321	24	C>R		No	Ensembl
rs1665184257	25	S>N		No	gnomAD
rs1237764785	26	E>D		No	gnomAD
rs1665184182	26	E>K		No	Ensembl
rs1665184138	26	E>V		No	Ensembl
rs2102750287	27	S>C		No	Ensembl
rs754042347	27	S>I		No	ExAC gnomAD
rs780414059	27	S>R		No	ExAC gnomAD
rs754042347	27	S>T		No	ExAC gnomAD
rs2102750280	28	I>M		No	Ensembl
rs1665183958	28	I>V		No	Ensembl
rs1665183865	30	K>R		No	Ensembl
rs1665183726	31	D>A		No	gnomAD
rs756350417	31	D>H		No	ExAC TOPMed gnomAD
rs756350417 COSM4143413	31	D>N	thyroid [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs1665183726	31	D>V		No	gnomAD
rs750681422	32	S>L		No	ExAC TOPMed gnomAD
rs750681422	32	S>W		No	ExAC TOPMed gnomAD
rs767731025	33	L>F		No	ExAC TOPMed gnomAD
rs2102750262	34	R>G		No	Ensembl
rs762258231	34	R>L		No	ExAC gnomAD
rs762258231	34	R>Q		No	ExAC gnomAD
rs912149989	35	M>I		No	TOPMed
rs751984430	35	M>L		No	ExAC gnomAD
rs751984430	35	M>V		No	ExAC gnomAD
rs2102750253	36	A>V		No	Ensembl
rs1285064497	37	I>F		No	TOPMed gnomAD
rs1285064497	37	I>V		No	TOPMed gnomAD
rs764699034	38	M>I		No	ExAC TOPMed gnomAD
rs142025196	39	V>L		No	ESP ExAC TOPMed gnomAD
rs142025196	39	V>M		No	ESP ExAC TOPMed gnomAD
rs2102750242	40	Q>R		No	Ensembl
rs768342881	41	S>*		No	ExAC gnomAD
rs768342881	41	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs2102747301	41	S>P		No	Ensembl
rs2102747301	41	S>T		No	Ensembl
rs2102747290	42	P>H		No	Ensembl
rs1220828656	43	M>L		No	TOPMed gnomAD
rs202022212	43	M>T		No	1000Genomes ExAC TOPMed gnomAD
rs1220828656	43	M>V		No	TOPMed gnomAD
rs946978561	45	D>H		No	TOPMed gnomAD
rs2102747283	46	G>A		No	Ensembl
rs1360722722	47	K>E		No	TOPMed gnomAD
rs2102747279	47	K>N		No	Ensembl
rs2102747273	49	P>S		No	Ensembl
rs2102747273	49	P>T		No	Ensembl
rs1397984634	50	H>L		No	TOPMed gnomAD
rs1665054322	50	H>Q		No	gnomAD
rs1397984634	50	H>R		No	TOPMed gnomAD
rs2102747264	51	W>*		No	Ensembl
rs2102747264	51	W>C		No	Ensembl
rs2102747262	52	Y>N		No	Ensembl
rs2102747256	53	H>L		No	Ensembl
rs375440192	53	H>Q		No	ESP ExAC gnomAD
VAR_050460 rs3738708	54	F>L		No	UniProt TOPMed dbSNP gnomAD
rs757556995	55	S>F		No	ExAC gnomAD
rs781263314	55	S>T		No	ExAC
TCGA novel	55	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2102747242	56	C>F		No	Ensembl
rs2102747242	56	C>Y		No	Ensembl
rs1262677082	57	F>L		No	Ensembl
rs1177628495	57	F>L		No	gnomAD
rs2102747230	58	W>C		No	Ensembl
rs2102747232	58	W>L		No	Ensembl
rs370621373	58	W>R		No	ESP ExAC TOPMed gnomAD
rs2102747232	58	W>S		No	Ensembl
rs1426571960	59	K>E		No	gnomAD
rs1665053768	59	K>R		No	gnomAD
rs778130497	60	V>M		No	ExAC gnomAD
rs2102747224	61	G>C		No	Ensembl
rs758791748	61	G>D		No	ExAC TOPMed gnomAD
rs2102747224	61	G>S		No	Ensembl
rs758791748	61	G>V		No	ExAC TOPMed gnomAD
rs755617552	62	H>Q		No	ExAC TOPMed gnomAD
rs753181414	62	H>R		No	ExAC gnomAD
rs1422347543	63	S>F		No	TOPMed gnomAD
rs2102747211	64	I>M		No	Ensembl
rs766952486	64	I>S		No	ExAC gnomAD
rs750007700	64	I>V		No	ExAC gnomAD
rs773909453	65	R>L		No	ExAC gnomAD
rs773909453	65	R>P		No	ExAC gnomAD
rs773909453	65	R>Q		No	ExAC gnomAD
rs377491451	65	R>W		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2102747200	66	H>Y		No	Ensembl
rs2102747191	67	P>H		No	Ensembl
rs2102747191	67	P>L		No	Ensembl
rs2102747194	67	P>S		No	Ensembl
rs2102747186	68	D>N		No	Ensembl
rs2102747184	68	D>V		No	Ensembl
rs762887304	69	V>F		No	ExAC TOPMed gnomAD
rs762887304	69	V>I		No	ExAC TOPMed gnomAD
rs2102747174	71	V>L		No	Ensembl
rs2102747174	71	V>M		No	Ensembl
rs147105590	72	D>A		No	ESP ExAC TOPMed gnomAD
rs147105590	72	D>G		No	ESP ExAC TOPMed gnomAD
rs2102747171	72	D>Y		No	Ensembl
rs2102747162	73	G>E		No	Ensembl
rs2102747162	73	G>V		No	Ensembl
rs2102747168	73	G>W		No	Ensembl
rs759516960	74	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs2102747157	75	S>C		No	Ensembl
rs182219056	75	S>P		No	1000Genomes ExAC TOPMed gnomAD
rs770918209	78	R>G		No	ExAC gnomAD
rs139202063	78	R>L		No	ESP ExAC gnomAD
rs139202063	78	R>Q		No	ESP ExAC gnomAD
rs770918209	78	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
COSM4863922 COSM252680	79	W>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2102747144	79	W>R		No	Ensembl
rs2102747142	80	D>Y		No	Ensembl
rs1805404	81	D>E		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM1339299 COSM4785028	81	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs777908389	81	D>N		No	ExAC gnomAD
rs1222634275	82	Q>E		No	TOPMed gnomAD
rs2102747134	83	Q>*		No	Ensembl
rs748579213	83	Q>R		No	ExAC TOPMed gnomAD
rs779380683	84	K>E		No	ExAC gnomAD
rs1254416670	85	V>F		No	gnomAD
rs1254416670	85	V>I		No	gnomAD
rs373081722	86	K>R		No	ESP ExAC TOPMed gnomAD
rs2102747125	88	T>I		No	Ensembl
rs1024721663	89	A>T		No	TOPMed gnomAD
rs1558243852	89	A>V		No	Ensembl
rs2102747116	91	A>G		No	Ensembl
rs2102747116	91	A>V		No	Ensembl
rs762832683	92	G>R		No	ExAC gnomAD
rs1199388635	94	V>A		No	TOPMed
rs2102747105	94	V>M		No	Ensembl
rs752593326	95	T>A		No	ExAC TOPMed gnomAD
rs2102747102	96	G>S		No	Ensembl
rs1558241049	98	G>S		No	TOPMed gnomAD
rs1664835801	99	Q>H		No	Ensembl
rs1194997553	100	D>E		No	TOPMed gnomAD
rs1664835464	100	D>G		No	Ensembl
rs1447523073	100	D>N		No	TOPMed gnomAD
rs1558241042	102	I>V		No	Ensembl
rs760027246	104	S>I		No	ExAC
COSM1473461	104	S>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1289654275	105	K>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs771624359	106	A>T		No	ExAC gnomAD
rs773670303	107	E>G		No	ExAC gnomAD
rs1664835065	107	E>Q		No	TOPMed
rs748845700	108	K>R		No	ExAC gnomAD
rs2102742039	109	T>S		No	Ensembl
rs1664834783	111	G>R		No	gnomAD
rs1664834732	112	D>G		No	Ensembl
rs2102742034	112	D>N		No	Ensembl
rs933980062	113	F>S		No	TOPMed
rs1447203064	114	A>V		No	gnomAD
rs2102742024	115	A>T		No	Ensembl
rs1321361321	116	E>V		No	gnomAD
rs751517060	118	A>G		No	ExAC gnomAD
rs757124333	118	A>T		No	ExAC gnomAD
rs751517060	118	A>V		No	ExAC gnomAD
rs777671240	119	K>E		No	ExAC TOPMed gnomAD
rs1664834056	119	K>N		No	Ensembl
rs758526385	119	K>R		No	ExAC TOPMed gnomAD
rs758526385	119	K>T		No	ExAC TOPMed gnomAD
rs200370133	121	N>S		No	gnomAD
rs200370133	121	N>T		No	gnomAD
rs1481258529	122	R>K		No	gnomAD
rs765535441	124	T>M		No	ExAC TOPMed gnomAD
rs1479953966	127	G>E		No	gnomAD
rs766857135	127	G>R		No	ExAC TOPMed gnomAD
rs773793720	129	M>I		No	ExAC gnomAD
rs983608266	129	M>L		No	TOPMed gnomAD
rs201841505	129	M>T		No	1000Genomes ExAC gnomAD
rs983608266	129	M>V		No	TOPMed gnomAD
rs2102741990	130	E>D		No	Ensembl
rs2102741992	130	E>K		No	Ensembl
rs746859668	135	G>D		No	ExAC gnomAD
rs2102741209	136	Q>H		No	Ensembl
rs1394109227	136	Q>R		No	TOPMed gnomAD
rs773018106	137	V>L		No	ExAC TOPMed gnomAD
rs773018106	137	V>M		No	ExAC TOPMed gnomAD
rs193238922	138	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs193238922	138	R>G		No	1000Genomes ExAC TOPMed gnomAD
rs779097786	138	R>H		No	ExAC TOPMed gnomAD
rs779097786	138	R>L		No	ExAC TOPMed gnomAD
rs1216641554	140	S>F		No	TOPMed gnomAD
rs755132754	141	K>N		No	ExAC gnomAD
rs749501376	142	K>M		No	ExAC TOPMed gnomAD
rs780467146	143	M>I		No	ExAC gnomAD
rs1664805479	143	M>V		No	TOPMed
rs1576399974	144	V>G		No	Ensembl
rs375047375	144	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs375047375	144	V>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1576399971	145	D>A		No	Ensembl
rs757712451	146	P>L		No	ExAC TOPMed gnomAD
rs757712451	146	P>Q		No	ExAC TOPMed gnomAD
rs757712451	146	P>R		No	ExAC TOPMed gnomAD
rs767782294	146	P>T		No	ExAC gnomAD
rs764676110	147	E>D		No	ExAC
rs759094129	150	Q>*		No	ExAC gnomAD
rs759094129	150	Q>E		No	ExAC gnomAD
rs142376976	150	Q>H		No	ESP ExAC TOPMed gnomAD
rs1664804678	152	G>D		No	gnomAD
rs1664804596	153	M>L		No	TOPMed
rs1171348856	153	M>T		No	gnomAD
TCGA novel	154	I>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1035280720	154	I>T		No	TOPMed gnomAD
rs2102741150	155	D>V		No	Ensembl
rs765911548	156	R>C		No	ExAC TOPMed gnomAD
rs765911548	156	R>G		No	ExAC TOPMed gnomAD
rs772993780	156	R>H		No	ExAC TOPMed gnomAD
rs772993780	156	R>L		No	ExAC TOPMed gnomAD
rs2102741136	157	W>*		No	Ensembl
rs2102741136	157	W>C		No	Ensembl
rs1664804289	159	H>R		No	TOPMed
rs2102741132	159	H>Y		No	Ensembl
rs2102741129	160	P>L		No	Ensembl
rs144252227	161	G>A		No	ESP ExAC TOPMed gnomAD
rs144252227	161	G>D		No	ESP ExAC TOPMed gnomAD
rs1576399916	161	G>S		No	Ensembl
rs144252227	161	G>V		No	ESP ExAC TOPMed gnomAD
rs1664804059	162	C>W		No	TOPMed
rs2102741121	162	C>Y		No	Ensembl
rs1458952745	163	F>S		No	gnomAD
rs2102741114	164	V>D		No	Ensembl
rs768827682	164	V>I		No	ExAC TOPMed gnomAD
rs1368616500	165	K>N		No	TOPMed gnomAD
rs749448195	166	N>K		No	ExAC TOPMed gnomAD
rs1297847926	166	N>S		No	gnomAD
rs1576399899	167	R>G		No	TOPMed gnomAD
rs2102741104	167	R>M		No	Ensembl
rs1664803452	167	R>S		No	TOPMed gnomAD
rs1576399899	167	R>W		No	TOPMed gnomAD
rs780414075	168	E>K		No	ExAC gnomAD
rs780414075	168	E>Q		No	ExAC gnomAD
rs1417391903	170	L>V		No	TOPMed gnomAD
rs756306081	171	G>R		No	ExAC gnomAD
rs200399922	173	R>L		No	ExAC TOPMed gnomAD
rs200399922	173	R>Q		No	ExAC TOPMed gnomAD
rs147537486	173	R>W		No	ESP ExAC TOPMed gnomAD
rs1167211720	174	P>R		No	TOPMed gnomAD
rs2102741085	174	P>S		No	Ensembl
rs2102741085	174	P>T		No	Ensembl
rs750067055	175	E>D		No	ExAC TOPMed gnomAD
rs760335339	175	E>G		No	ExAC gnomAD
rs765820369	175	E>K		No	ExAC TOPMed gnomAD
rs765820369	175	E>Q		No	ExAC TOPMed gnomAD
rs2102741077	176	Y>*		No	Ensembl
rs1165531868	177	S>G		No	TOPMed gnomAD
rs1165531868	177	S>R		No	TOPMed gnomAD
rs202057244	178	A>E		No	1000Genomes ExAC TOPMed gnomAD
rs202057244	178	A>G		No	1000Genomes ExAC TOPMed gnomAD
COSM1195610 rs202057244	178	A>V	lung Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1664802335	179	S>R		No	gnomAD
rs113258217	181	L>F		No	ESP ExAC TOPMed gnomAD
rs1664802081	183	G>D		No	Ensembl
rs1664802081	183	G>V		No	Ensembl
rs2102741064	184	F>S		No	Ensembl
rs1039658611	185	S>N		No	TOPMed gnomAD
rs1039658611	185	S>T		No	TOPMed gnomAD
rs2102741054	187	L>H		No	Ensembl
rs1805409 VAR_014714 RCV000955871	188	A>T		No	ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs912573046	188	A>V		No	TOPMed gnomAD
rs143482147	189	T>A		No	ESP TOPMed gnomAD
rs769792716	190	E>K		No	ExAC TOPMed gnomAD
rs2102741044 COSM4837030	191	D>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2102741040	193	E>*		No	Ensembl
rs1306484934	193	E>G		No	gnomAD
rs2102741040	193	E>K		No	Ensembl
rs2102741040	193	E>Q		No	Ensembl
rs1238539245	194	A>S		No	gnomAD
rs1238539245	194	A>T		No	gnomAD
rs2102741035	194	A>V		No	Ensembl
rs2102741031	195	L>V		No	Ensembl
rs781316794	198	Q>*		No	ExAC TOPMed gnomAD
rs781316794	198	Q>E		No	ExAC TOPMed gnomAD
rs1664801197	200	P>A		No	TOPMed
rs372733683	202	V>A		No	ESP ExAC TOPMed gnomAD
rs372733683	202	V>D		No	ESP ExAC TOPMed gnomAD
rs2102741018	202	V>I		No	Ensembl
rs1425564889	203	K>R		No	gnomAD
rs1156943360	204	S>N		No	gnomAD
rs1576399840	206	G>*		No	Ensembl
rs922237606	208	R>K		No	TOPMed gnomAD
rs946326508	210	G>S		No	gnomAD
rs777349003	211	D>N		No	ExAC TOPMed gnomAD
rs1322049188	213	V>L		No	TOPMed gnomAD
TCGA novel	214	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1664764592	214	D>V		No	Ensembl
rs144925873	216	V>A		No	ESP TOPMed gnomAD
rs2102740107	216	V>M		No	Ensembl
rs2102740096 COSM3484278	218	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs149927756	219	V>A		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2102740094	220	A>S		No	Ensembl
rs139232092 COSM1339298	220	A>V	large_intestine [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1664764077	221	K>N		No	Ensembl
rs1276588427	223	K>E		No	gnomAD
rs756906729	223	K>T		No	ExAC gnomAD
rs751284775	224	S>P		No	ExAC TOPMed gnomAD
rs751284775	224	S>T		No	ExAC TOPMed gnomAD
rs758314341	227	E>K		No	ExAC gnomAD
rs1408297780	228	K>Q		No	gnomAD
rs1664763552	228	K>T		No	TOPMed
rs535937365	229	D>G		No	Ensembl
rs2102740084	229	D>H		No	Ensembl
TCGA novel	229	D>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1304546998	230	K>E		No	gnomAD
rs752647218	230	K>N		No	ExAC gnomAD
rs1664763012	231	D>N		No	gnomAD
rs1284782212	232	S>G		No	TOPMed gnomAD
rs759646966	232	S>I		No	ExAC TOPMed gnomAD
rs759646966	232	S>N		No	ExAC TOPMed gnomAD
rs926296153	234	L>F		No	Ensembl
rs1268157226	234	L>P		No	Ensembl
rs2102740067	235	E>K		No	Ensembl
rs776514767	236	K>R		No	ExAC gnomAD
TCGA novel	237	A>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2102740062	237	A>V		No	Ensembl
rs2102740059	238	L>R		No	Ensembl
rs1664762634	238	L>V		No	Ensembl
rs1367320115	239	K>M		No	gnomAD
rs151069237	241	Q>E		No	ESP ExAC TOPMed gnomAD
rs200470832	243	D>N		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1220306586	245	I>M		No	TOPMed gnomAD
rs1361625330	247	N>H		No	gnomAD
rs111635488	248	I>T		No	ExAC TOPMed gnomAD
rs1387014996	248	I>V		No	TOPMed gnomAD
rs774509517	251	E>K		No	ExAC TOPMed gnomAD
rs774509517	251	E>Q		No	ExAC TOPMed gnomAD
rs139912909	253	K>N		No	ESP ExAC TOPMed gnomAD
rs1664718978	253	K>R		No	TOPMed
rs1286791457	255	V>A		No	TOPMed gnomAD
rs770537059	255	V>M		No	ExAC gnomAD
rs202234597	256	C>R		No	Ensembl
rs202234597	256	C>S		No	Ensembl
rs771568163	256	C>Y		No	ExAC TOPMed gnomAD
rs1365598058	258	T>A		No	TOPMed gnomAD
rs2102738970	259	N>D		No	Ensembl
rs376329145	259	N>S		No	ESP ExAC gnomAD
rs955943944	260	D>N		No	gnomAD
rs1179299518	261	L>M		No	gnomAD
TCGA novel	261	L>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	262	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs61750985	262	K>R		No	ESP ExAC TOPMed gnomAD
COSM98260 rs1246519387	263	E>K	upper_aerodigestive_tract [Cosmic]	No	cosmic curated gnomAD
rs1664717708	266	I>L		No	TOPMed
rs1664717519	271	Q>R		No	TOPMed
TCGA novel	273	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2102738957	274	S>F		No	Ensembl
rs1664717471	275	G>R		No	TOPMed
rs201975538	277	S>L		No	ExAC TOPMed gnomAD
rs201975538	277	S>W		No	ExAC TOPMed gnomAD
rs769689858	278	A>S		No	ExAC TOPMed gnomAD
rs769689858	278	A>T		No	ExAC TOPMed gnomAD
COSM904739 rs201777393	278	A>V	endometrium [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
TCGA novel	279	I>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs944494611	280	L>V		No	TOPMed gnomAD
rs1482880750	281	D>H		No	gnomAD
rs1241257182 COSM904738	282	R>*	endometrium [Cosmic]	No	cosmic curated TOPMed gnomAD
rs528782098	282	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs1195869904	283	V>A		No	TOPMed gnomAD
rs766905458	284	A>V		No	ExAC TOPMed gnomAD
rs1664702142	285	D>N		No	TOPMed
rs1664702102	286	G>D		No	TOPMed
rs768295017	287	M>I		No	ExAC gnomAD
rs773860428	287	M>L		No	ExAC TOPMed gnomAD
rs773860428	287	M>V		No	ExAC TOPMed gnomAD
rs748941108	288	V>G		No	ExAC gnomAD
rs2102738551	288	V>M		No	Ensembl
rs2102738546	290	G>A		No	Ensembl
rs1045389347	290	G>C		No	Ensembl
rs2102738546	290	G>D		No	Ensembl
rs1045389347	290	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs2102738540	291	A>T		No	Ensembl
rs2102738538	291	A>V		No	Ensembl
rs2102738533	292	L>F		No	Ensembl
rs2102738530	292	L>H		No	Ensembl
rs149619679	293	L>F		No	1000Genomes ESP ExAC TOPMed gnomAD
rs915640411	294	P>A		No	TOPMed
COSM107906 rs138017860	294	P>L	skin [Cosmic]	No	cosmic curated Ensembl
rs915640411	294	P>S		No	TOPMed
rs757283305	296	E>G		No	ExAC gnomAD
rs781235145	296	E>K		No	ExAC TOPMed gnomAD
rs781235145	296	E>Q		No	ExAC TOPMed gnomAD
rs1360723108	297	E>K		No	TOPMed
rs2102738512	298	C>Y		No	Ensembl
rs374381502	299	S>L		No	1000Genomes ExAC TOPMed gnomAD
rs2102738502	300	G>D		No	Ensembl
rs2102738503	300	G>S		No	Ensembl
rs1280744973	302	L>P		No	TOPMed gnomAD
rs2102738499	302	L>V		No	Ensembl
rs758628731	303	V>G		No	ExAC gnomAD
rs200557411	304	F>L		No	TOPMed gnomAD
rs1237265395	304	F>L		No	gnomAD
rs1664700382	306	S>N		No	TOPMed
rs755443483	306	S>R		No	ExAC TOPMed gnomAD
rs377195931 COSM1473460	307	D>N	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs766966324	308	A>D		No	ExAC gnomAD
rs2102738487	308	A>S		No	Ensembl
rs766966324	308	A>V		No	ExAC gnomAD
rs761098347	309	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs2102738476	311	C>Y		No	Ensembl
rs773842722	312	T>I		No	ExAC TOPMed gnomAD
rs61750984	314	D>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2102738471	314	D>H		No	Ensembl
rs2102738471	314	D>N		No	Ensembl
rs2102738467	314	D>V		No	Ensembl
rs1664699530	315	V>F		No	TOPMed
COSM1219295 rs1664699530	315	V>I	large_intestine [Cosmic]	No	cosmic curated TOPMed
rs2102738460	316	T>I		No	Ensembl
rs1392242492	317	A>P		No	TOPMed gnomAD
rs1392242492	317	A>T		No	TOPMed gnomAD
TCGA novel rs2102738453	317	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2102738451	318	W>*		No	Ensembl
rs2102738447	319	T>S		No	Ensembl
rs1664699316	320	K>Q		No	Ensembl
rs1432736935	321	C>S		No	TOPMed
rs775168450	321	C>W		No	ExAC TOPMed gnomAD
rs1432736935	321	C>Y		No	TOPMed
rs372456973	322	M>I		No	ESP ExAC TOPMed gnomAD
rs1379921479	322	M>T		No	TOPMed
rs769550581	322	M>V		No	ExAC TOPMed gnomAD
rs1576398022	323	V>F		No	Ensembl
rs1576398022	323	V>L		No	Ensembl
rs1664698560	324	K>Q		No	Ensembl
rs1664698501	324	K>R		No	TOPMed gnomAD
rs146522827	325	T>A		No	ESP ExAC TOPMed gnomAD
rs1664698299	326	Q>R		No	gnomAD
rs1664698186	327	T>I		No	Ensembl
rs866616078	327	T>S		No	Ensembl
rs2102738414	328	P>L		No	Ensembl
rs2102738416	328	P>S		No	Ensembl
rs1664698058	329	N>S		No	TOPMed
rs1179367477	330	R>G		No	TOPMed gnomAD
rs368328143	330	R>L		No	ESP ExAC TOPMed gnomAD
rs368328143	330	R>P		No	ESP ExAC TOPMed gnomAD
rs368328143	330	R>Q		No	ESP ExAC TOPMed gnomAD
rs1179367477	330	R>W		No	TOPMed gnomAD
rs758573546	331	K>N		No	ExAC TOPMed gnomAD
rs573843203	331	K>R		No	1000Genomes ExAC gnomAD
rs150021518	332	E>*		No	ESP ExAC TOPMed gnomAD
rs2102738389	333	W>G		No	Ensembl
VAR_019171 rs3219057 RCV000913437	334	V>I		No	ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs150693561	335	T>S		No	ESP ExAC TOPMed gnomAD
rs1198964408	336	P>S		No	TOPMed gnomAD
rs191733508	337	K>R		No	1000Genomes ExAC gnomAD
rs1020759711	338	E>K		No	TOPMed gnomAD
rs1383847803	340	R>*		No	TOPMed gnomAD
rs1383847803	340	R>G		No	TOPMed gnomAD
rs552938819	340	R>P		No	1000Genomes ExAC TOPMed gnomAD
COSM3385798 rs552938819	340	R>Q	pancreas [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs756482261	343	S>C		No	ExAC gnomAD
rs1576397250	343	S>P		No	Ensembl
rs2102737400	344	Y>F		No	Ensembl
rs2102737397	345	L>F		No	Ensembl
rs750907239	346	K>N		No	ExAC gnomAD
rs1485741963	346	K>R		No	TOPMed
rs781752294	347	K>I		No	ExAC gnomAD
rs776780138	349	K>L*		No	ExAC
rs1664653473	350	V>I		No	Ensembl
rs1176649684	351	K>E		No	gnomAD
rs757894915	351	K>N		No	ExAC TOPMed gnomAD
TCGA novel	352	K>N	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1805415	352	K>N		No	1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	352	K>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1220396550	353	Q>R		No	gnomAD
rs759190516	354	D>A		No	ExAC TOPMed gnomAD
rs1664652799	354	D>E		No	TOPMed
rs1449220843	354	D>N		No	gnomAD
rs753458085	355	R>C		No	ExAC gnomAD
rs753458085	355	R>G		No	ExAC gnomAD
rs746522692	355	R>H		No	ExAC TOPMed gnomAD
rs746522692	355	R>L		No	ExAC TOPMed gnomAD
rs746522692	355	R>P		No	ExAC TOPMed gnomAD
rs1431854371	356	I>K		No	TOPMed gnomAD
rs1265412667	356	I>L		No	gnomAD
rs1431854371	356	I>T		No	TOPMed gnomAD
rs1265412667	356	I>V		No	gnomAD
rs1017338447	357	F>L		No	TOPMed gnomAD
rs1230583614	357	F>L		No	TOPMed gnomAD
rs1576397207	357	F>S		No	Ensembl
rs1664650881	358	P>A		No	TOPMed
rs2102737338	358	P>H		No	Ensembl
TCGA novel	358	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1664650881	358	P>S		No	TOPMed
rs1339058576	359	P>A		No	gnomAD
rs1638878278	359	P>L		No	TOPMed
rs1638878278	359	P>Q		No	TOPMed
rs1638878278	359	P>R		No	TOPMed
rs2102737332	360	E>*		No	Ensembl
rs2102737332	360	E>Q		No	Ensembl
COSM1339297	360	E>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM4908243	360	E>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2102737331	361	T>I		No	Ensembl
rs1576397199	361	T>P		No	Ensembl
rs2102737328	362	S>C		No	Ensembl
rs2102737328	362	S>G		No	Ensembl
rs1415419535	362	S>N		No	TOPMed
rs367870123	362	S>R		No	ESP ExAC TOPMed gnomAD
rs2102737328	362	S>R		No	Ensembl
rs1382217202	363	A>G		No	TOPMed gnomAD
rs779486158	363	A>P		No	TOPMed gnomAD
rs779486158	363	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1382217202	363	A>V		No	TOPMed gnomAD
rs2102737316	364	S>P		No	Ensembl
rs1301580819	365	V>E		No	TOPMed gnomAD
rs774530658	365	V>L		No	ExAC TOPMed gnomAD
rs774530658 COSM4028712	365	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs2102737310	366	A>T		No	Ensembl
rs1407958928	366	A>V		No	gnomAD
rs2102737303	367	A>D		No	Ensembl
rs2102737303	367	A>G		No	Ensembl
rs1576397174	367	A>P		No	Ensembl
rs1576397174	367	A>T		No	Ensembl
rs2102737303	367	A>V		No	Ensembl
rs749502012	368	T>M		No	ExAC TOPMed gnomAD
rs1393949279	368	T>P		No	gnomAD
rs1393949279	368	T>S		No	gnomAD
rs1384102435 COSM3804105	369	P>L	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs1397522095	370	P>L		No	TOPMed gnomAD
rs770186932	371	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1558238203	371	P>S		No	Ensembl
rs2102737285	372	S>C		No	Ensembl
rs200129594	372	S>P		No	1000Genomes ExAC TOPMed gnomAD
rs1664649333	373	T>I		No	Ensembl
rs2102737281	373	T>P		No	Ensembl
rs1664649333	373	T>R		No	Ensembl
rs2102737276	374	A>T		No	Ensembl
rs1192794503	374	A>V		No	gnomAD
rs1401471013	375	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1197812138	376	A>S		No	gnomAD
rs1197812138	376	A>T		No	gnomAD
rs752094167	376	A>V		No	ExAC
VAR_050461 RCV000959818 rs2230484	377	P>S		No	ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs567632721	378	A>D		No	Ensembl
rs567632721	378	A>V		No	Ensembl
rs2102737261	379	A>T		No	Ensembl
rs2102737260	379	A>V		No	Ensembl
rs2102737257	380	V>M		No	Ensembl
rs1379535271	381	N>K		No	TOPMed gnomAD
rs2102737255	381	N>S		No	Ensembl
rs1009788523	382	S>A		No	TOPMed
rs1291155570	382	S>F		No	gnomAD
rs1384985749	383	S>A		No	gnomAD
rs3219062	383	S>F		No	1000Genomes ESP ExAC TOPMed gnomAD
VAR_019172 rs3219062	383	S>Y		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs755804141	384	A>T		No	ExAC TOPMed gnomAD
rs750176481	384	A>V		No	ExAC TOPMed gnomAD
rs767449936	385	S>A		No	ExAC gnomAD
rs767449936	385	S>T		No	ExAC gnomAD
rs761791731	386	A>V		No	ExAC gnomAD
rs1664600189	387	D>E		No	Ensembl
rs1406288243	387	D>G		No	TOPMed gnomAD
rs1374014344	390	L>F		No	gnomAD
rs886582424	391	S>P		No	TOPMed gnomAD
rs767394876	392	N>I		No	ExAC TOPMed gnomAD
rs767394876	392	N>S		No	ExAC TOPMed gnomAD
rs767394876	392	N>T		No	ExAC TOPMed gnomAD
rs757155449	393	M>T		No	ExAC TOPMed gnomAD
rs1310892988	393	M>V		No	TOPMed gnomAD
rs763992857	396	L>V		No	ExAC gnomAD
rs1297670934	397	T>I		No	TOPMed gnomAD
rs2102736346	397	T>S		No	Ensembl
rs2102736343	398	L>F		No	Ensembl
rs2102736343	398	L>V		No	Ensembl
rs1197320544	399	G>R		No	gnomAD
rs2102736334	399	G>V		No	Ensembl
rs1483547143	401	L>P		No	TOPMed gnomAD
rs2102736322	402	S>C		No	Ensembl
rs1214912609	402	S>P		No	gnomAD
rs150379323	403	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs765392279	403	R>W		No	ExAC TOPMed gnomAD
rs1664598653	406	D>V		No	Ensembl
rs2102736303	407	E>K		No	Ensembl
rs1664598523	407	E>V		No	Ensembl
rs79529505 COSM904736	408	V>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs2102736292	410	A>D		No	Ensembl
rs2102736292	410	A>G		No	Ensembl
rs2102736296	410	A>S		No	Ensembl
rs2102736292 COSM4028711	410	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2102736289	411	M>I		No	Ensembl
rs773756874	412	I>T		No	ExAC gnomAD
rs772391589	413	E>D		No	ExAC gnomAD
rs1664598298	413	E>K		No	TOPMed
rs1664598298	413	E>Q		No	TOPMed
rs1430643003	414	K>N		No	TOPMed gnomAD
TCGA novel	415	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2102736271	416	G>A		No	Ensembl
rs779381164	416	G>R		No	ExAC gnomAD
rs1664597929	417	G>E		No	TOPMed
rs1044747889	417	G>R		No	TOPMed
rs1664597929	417	G>V		No	TOPMed
rs1044747889	417	G>W		No	TOPMed
rs779960019	418	K>E	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs755697950	418	K>E		No	ExAC TOPMed gnomAD
rs745482815	418	K>M		No	ExAC TOPMed gnomAD
rs755697950	418	K>Q		No	ExAC TOPMed gnomAD
rs745482815	418	K>R		No	ExAC TOPMed gnomAD
rs2102736254	419	L>M		No	Ensembl
rs2102736254	419	L>V		No	Ensembl
COSM4028710 rs757100394	420	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs757100394	420	T>R		No	ExAC TOPMed gnomAD
rs781055881	420	T>S		No	ExAC gnomAD
rs1404803220	421	G>E		No	TOPMed gnomAD
rs1404803220	421	G>V		No	TOPMed gnomAD
rs2102736245	421	G>W		No	Ensembl
rs1434856963	422	T>A		No	TOPMed gnomAD
COSM1645337 rs751338176	422	T>M	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs751338176	422	T>R		No	ExAC TOPMed gnomAD
rs1434856963	422	T>S		No	TOPMed gnomAD
rs2102736239	423	A>T		No	Ensembl
rs1558237595 COSM3385797	423	A>V	pancreas [Cosmic]	No	cosmic curated Ensembl
rs147711929	424	N>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs147711929	424	N>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs142346536	425	K>E		No	ESP TOPMed gnomAD
rs1225319193	425	K>M		No	Ensembl
rs1225319193	425	K>R		No	Ensembl
rs1460669958	426	A>S		No	gnomAD
rs1664595502	427	S>A		No	gnomAD
rs1261041435	427	S>F		No	gnomAD
rs752706377	428	L>M		No	ExAC gnomAD
rs2102736218	429	C>F		No	Ensembl
rs2102736218	429	C>Y		No	Ensembl
rs759654202	430	I>L		No	ExAC TOPMed gnomAD
rs759654202	430	I>V		No	ExAC TOPMed gnomAD
rs2102736209	431	S>N		No	Ensembl
rs1664595059	431	S>R		No	TOPMed gnomAD
rs754055179	434	K>E		No	ExAC gnomAD
TCGA novel	435	E>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2102735706	436	V>E		No	Ensembl
rs2102735706	436	V>G		No	Ensembl
rs1664577046	436	V>M		No	Ensembl
TCGA novel	438	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	438	K>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	439	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs145185569	440	N>S		No	ESP ExAC TOPMed gnomAD
rs769225989	442	K>Q		No	ExAC gnomAD
rs763555236	443	M>K		No	ExAC TOPMed gnomAD
rs763555236	443	M>R		No	ExAC TOPMed gnomAD
rs763555236	443	M>T		No	ExAC TOPMed gnomAD
rs2102735691	444	E>Q		No	Ensembl
rs770590002	445	E>D		No	ExAC gnomAD
rs1664576755	445	E>K		No	gnomAD
rs776244247	445	E>V		No	ExAC gnomAD
rs2102735676	446	V>E		No	Ensembl
rs2102735678	446	V>I		No	Ensembl
rs746623627	447	K>E		No	ExAC TOPMed gnomAD
rs2102735674	448	E>K		No	Ensembl
rs1664576594	449	A>P		No	Ensembl
rs1664576594	449	A>S		No	Ensembl
rs2102735667	449	A>V		No	Ensembl
rs374389375	450	N>S		No	ESP ExAC TOPMed gnomAD
rs1290170553	451	I>L		No	TOPMed gnomAD
rs139399785	452	R>*		No	1000Genomes ESP ExAC TOPMed gnomAD
rs139399785	452	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs552397377	452	R>P		No	ExAC TOPMed gnomAD
rs552397377	452	R>Q		No	ExAC TOPMed gnomAD
rs2102735640	453	V>D		No	Ensembl
rs2102735646	453	V>L		No	Ensembl
rs778695407	454	V>L		No	ExAC TOPMed gnomAD
rs778695407	454	V>M		No	ExAC TOPMed gnomAD
rs1306743122	455	S>Y		No	gnomAD
rs749244567	456	E>D		No	ExAC gnomAD
rs754869096	456	E>G		No	ExAC gnomAD
rs1389888337	456	E>K		No	gnomAD
rs754869096	456	E>V		No	ExAC gnomAD
rs143814826	457	D>E		No	ESP ExAC TOPMed gnomAD
rs1404459478	457	D>H		No	gnomAD
rs1404459478	457	D>Y		No	gnomAD
rs533318843	458	F>C		No	1000Genomes ExAC gnomAD
rs1237817904	459	L>V		No	gnomAD
rs369942072	461	D>E		No	ESP ExAC TOPMed gnomAD
rs757431361	461	D>H		No	ExAC gnomAD
rs757431361	461	D>N		No	ExAC gnomAD
rs2102735604	461	D>V		No	Ensembl
rs763508057	462	V>I		No	ExAC TOPMed gnomAD
rs1412319267	463	S>F		No	TOPMed gnomAD
rs2102735591	463	S>P		No	Ensembl
rs149332554	464	A>P		No	ESP ExAC TOPMed gnomAD
rs149332554	464	A>S		No	ESP ExAC TOPMed gnomAD
rs149332554	464	A>T		No	ESP ExAC TOPMed gnomAD
rs772726198	465	S>F		No	ExAC
rs914345930	466	T>A		No	Ensembl
rs1212085448	466	T>I		No	gnomAD
TCGA novel	466	T>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1489133214	467	K>E		No	gnomAD
rs1664574145	468	S>G		No	gnomAD
rs762534387	469	L>F		No	gnomAD
rs2102735569	470	Q>*		No	Ensembl
rs2102735566	470	Q>H		No	Ensembl
rs771699480	470	Q>L		No	ExAC gnomAD
rs771699480	470	Q>R		No	ExAC gnomAD
rs2102735564	471	E>*		No	Ensembl
rs2102735564	471	E>Q		No	Ensembl
TCGA novel	472	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2102735561	472	L>M		No	Ensembl
rs1331450330	472	L>S		No	gnomAD
COSM904735	473	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1054176374	473	F>V		No	Ensembl
rs1664573732	475	A>T		No	TOPMed gnomAD
rs1664573700 TCGA novel	475	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs1303502360	476	H>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1664573612	476	H>Y		No	Ensembl
rs1384236079	477	I>T		No	gnomAD
rs768486381	478	L>F		No	ExAC gnomAD
rs1179047279	478	L>M		No	TOPMed
rs1664573286	479	S>Y		No	TOPMed
rs1287198086	480	P>A		No	TOPMed gnomAD
rs2102735524	480	P>L		No	Ensembl
rs2102735524	480	P>R		No	Ensembl
rs1287198086	480	P>S		No	TOPMed gnomAD
rs201371549	481	W>C		No	ExAC TOPMed gnomAD
rs1664573162	481	W>G		No	Ensembl
rs138072805	481	W>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1664572977	482	G>E		No	TOPMed
rs879911445	482	G>R		No	TOPMed gnomAD
rs879911445	482	G>W		No	TOPMed gnomAD
rs2102735505	483	A>G		No	Ensembl
COSM4711161	483	A>Q	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1199030913	483	A>S		No	gnomAD
rs1199030913	483	A>T		No	gnomAD
rs757458261	484	E>A		No	ExAC TOPMed gnomAD
rs1285334645	484	E>D		No	TOPMed gnomAD
rs781134011	484	E>K		No	ExAC gnomAD
rs751855487	485	V>E		No	ExAC gnomAD
rs751855487	485	V>G		No	ExAC gnomAD
rs1207430779	485	V>M		No	gnomAD
rs2102735489	487	A>G		No	Ensembl
rs2102735491	487	A>P		No	Ensembl
rs2102735491	487	A>T		No	Ensembl
rs1664572427	488	E>*		No	TOPMed
rs2102735485	488	E>D		No	Ensembl
rs1664572427	488	E>Q		No	TOPMed
VAR_035852	488	E>V	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
rs2102735483	489	P>A		No	Ensembl
rs2102735482	489	P>R		No	Ensembl
rs758878069	490	V>I		No	ExAC TOPMed gnomAD
rs2102735478	491	E>G		No	Ensembl
TCGA novel rs1664572320	492	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs2102735474	492	V>F		No	Ensembl
rs2102735474	492	V>I		No	Ensembl
rs2102735465	493	V>G		No	Ensembl
rs1338919604	493	V>L		No	TOPMed gnomAD
rs1338919604	493	V>M		No	TOPMed gnomAD
TCGA novel	494	A>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2102735459	494	A>G		No	Ensembl
rs1276677693	494	A>P		No	gnomAD
rs1276677693	494	A>T		No	gnomAD
rs2102735459	494	A>V		No	Ensembl
rs2102735453	495	P>R		No	Ensembl
rs753253206	495	P>S		No	ExAC TOPMed gnomAD
rs1664572078	496	R>I		No	Ensembl
rs1664572078	496	R>K		No	Ensembl
rs765902839	496	R>S		No	ExAC TOPMed gnomAD
rs2102735446	497	G>E		No	Ensembl
rs772712857	498	K>N		No	ExAC gnomAD
rs759976569	498	K>R		No	ExAC TOPMed gnomAD
rs2102735432	499	S>*		No	Ensembl
rs2102735435	499	S>A		No	Ensembl
rs2102735435	499	S>P		No	Ensembl
rs2102735435	499	S>T		No	Ensembl
rs1558237240	500	G>A		No	Ensembl
rs1558237240	500	G>E		No	Ensembl
rs1365570270	501	A>S		No	TOPMed gnomAD
COSM679357 rs1365570270	501	A>T	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs2102735422	501	A>V		No	Ensembl
rs183533639	502	A>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2102735418	502	A>T		No	Ensembl
rs183533639 COSM1196897	502	A>V	lung [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs2102735407	503	L>F		No	Ensembl
rs2102735402	503	L>H		No	Ensembl
rs2102735402	503	L>P		No	Ensembl
COSM1339296 rs2102735402	503	L>R	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2102735392	504	S>C		No	Ensembl
rs2102735392	504	S>F		No	Ensembl
rs916116737	504	S>P		No	TOPMed gnomAD
rs2102735385	505	K>N		No	Ensembl
rs768435056	505	K>Q		No	ExAC gnomAD
rs981394314	505	K>R		No	TOPMed gnomAD
rs981394314	505	K>T		No	TOPMed gnomAD
COSM5106314	507	S>A	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs775273327	507	S>I		No	ExAC TOPMed gnomAD
rs1159330096	507	S>K	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs775273327	507	S>N		No	ExAC TOPMed gnomAD
rs769703448	507	S>R		No	ExAC gnomAD
rs775273327	507	S>T		No	ExAC TOPMed gnomAD
rs764897410	508	K>M		No	Ensembl
rs764897410	508	K>R		No	Ensembl
rs764897410	508	K>T		No	Ensembl
TCGA novel	509	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2102735372	509	G>V		No	Ensembl
rs2102735367	510	Q>R		No	Ensembl
rs2102735361	511	V>D		No	Ensembl
rs745820900	511	V>F		No	ExAC gnomAD
COSM679358 rs745820900	511	V>I	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs745820900	511	V>L		No	ExAC gnomAD
rs1365191227	513	E>G		No	TOPMed gnomAD
COSM4028709	514	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1249034256	514	E>K		No	gnomAD
rs924472078	515	G>D		No	TOPMed gnomAD
rs2102735351	515	G>S		No	Ensembl
rs924472078	515	G>V		No	TOPMed gnomAD
rs1223076560	517	N>Y		No	gnomAD
rs1558237156	520	E>K		No	gnomAD
TCGA novel	521	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs759498059	522	R>K		No	ExAC gnomAD
rs776475899	522	R>S		No	ExAC gnomAD
rs1664565687 TCGA novel	523	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2102735124	523	M>K		No	Ensembl
rs1664565728	523	M>V		No	gnomAD
rs771043288	524	K>R		No	ExAC TOPMed gnomAD
rs1664565492	527	L>F		No	TOPMed
rs1664565460	527	L>P		No	Ensembl
rs1664565492	527	L>V		No	TOPMed
rs146636298	530	G>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs949901457	530	G>V		No	TOPMed
rs1241057058	531	A>V		No	TOPMed gnomAD
rs2102735102	532	A>V		No	Ensembl
rs1664565044	534	D>N		No	TOPMed
rs2102735092	535	P>A		No	Ensembl
COSM1339295	535	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs748412943	536	D>E		No	ExAC gnomAD
rs1188160062	537	S>Y		No	TOPMed
rs1330582582	541	H>D		No	TOPMed gnomAD
rs1330582582	541	H>Y		No	TOPMed gnomAD
rs1664555342	542	S>F		No	Ensembl
rs2102734815	542	S>T		No	Ensembl
rs200485374	543	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA gnomAD
rs371066735	543	A>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs368710728	544	H>Q		No	ESP ExAC TOPMed gnomAD
rs2102734797	544	H>Y		No	Ensembl
rs1664554801	545	V>F		No	Ensembl
rs1664554801	545	V>I		No	Ensembl
rs894502950	546	L>P		No	TOPMed
rs766309591	547	E>A		No	ExAC gnomAD
rs766309591	547	E>V		No	ExAC gnomAD
rs754230593	549	G>D		No	Ensembl
rs760642598	550	G>R		No	ExAC gnomAD
rs760642598	550	G>W		No	ExAC gnomAD
rs1323054532	551	K>E		No	gnomAD
rs2102734770	552	V>D		No	Ensembl
rs2102734772	552	V>I		No	Ensembl
rs762041208	554	S>G		No	ExAC gnomAD
rs2102734764	555	A>S		No	Ensembl
rs2102734764	555	A>T		No	Ensembl
rs2102734761	555	A>V		No	Ensembl
rs1664554055	556	T>I		No	Ensembl
rs1174009696	556	T>P		No	gnomAD
rs2102734748	557	L>F		No	Ensembl
rs2102734741	557	L>P		No	Ensembl
rs1057150511	558	G>V		No	TOPMed gnomAD
COSM4028708 rs1258407978	559	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs201365502	559	L>P		No	1000Genomes
rs1664553539	560	V>E		No	Ensembl
COSM3789556	560	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3484275 rs1425989175	560	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs774502829	561	D>H		No	ExAC
rs774502829	561	D>N		No	ExAC
rs774502829	561	D>Y		No	ExAC
rs550415056	562	I>V		No	ExAC TOPMed gnomAD
rs1664553059	563	V>A		No	TOPMed
rs770190206	563	V>F		No	ExAC TOPMed gnomAD
rs770190206	563	V>I		No	ExAC TOPMed gnomAD
rs770190206	563	V>L		No	ExAC TOPMed gnomAD
rs2102734718	564	K>T		No	Ensembl
rs746345386	565	G>R		No	ExAC gnomAD
rs1664552953	566	T>A		No	Ensembl
rs1374142615	566	T>I		No	TOPMed gnomAD
rs1374142615	566	T>S		No	TOPMed gnomAD
rs201570154	567	N>S		No	1000Genomes
COSM3804104 rs1478031928	568	S>C	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
COSM3484274	568	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1192583258	568	S>P		No	gnomAD
rs781752149	569	Y>C		No	ExAC TOPMed gnomAD
rs781752149	569	Y>F		No	ExAC TOPMed gnomAD
rs1664552352	571	K>N		No	Ensembl
rs757894757	571	K>R		No	ExAC
rs2102734693	573	Q>*		No	Ensembl
rs778490248	573	Q>R		No	ExAC gnomAD
rs2102734685	574	L>V		No	Ensembl
rs572705679	576	E>*		No	1000Genomes
rs572705679	576	E>K		No	1000Genomes
rs1664551464	578	D>G		No	gnomAD
rs140136106	578	D>N		No	ESP ExAC TOPMed gnomAD
rs1664551464	578	D>V		No	gnomAD
rs1664551421	579	K>E		No	TOPMed gnomAD
rs1382080542	579	K>N		No	TOPMed gnomAD
rs756038665	580	E>K		No	ExAC gnomAD
rs2102734676	581	N>K		No	Ensembl
rs750370971	582	R>G		No	ExAC gnomAD
rs1664511746	582	R>S		No	TOPMed
rs751561930	583	Y>H		No	ExAC TOPMed gnomAD
rs1664511621	586	F>L		No	Ensembl
rs1664511573	587	R>G		No	Ensembl
TCGA novel	587	R>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1179612280	590	G>V		No	gnomAD
rs752905479 COSM904733	591	R>C	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs752905479	591	R>G		No	ExAC TOPMed gnomAD
COSM210185 rs377397890	591	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs377397890	591	R>L		No	ESP ExAC TOPMed gnomAD
COSM904734	591	R>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs759762567	592	V>L		No	ExAC gnomAD
rs2102733846	593	G>C		No	Ensembl
rs1378969848	593	G>D		No	gnomAD
rs2102733846	593	G>R		No	Ensembl
rs1264024588	594	T>A		No	gnomAD
rs776941221	594	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1664510975	595	V>G		No	TOPMed
COSM464039 rs1287908718	595	V>L	kidney [Cosmic]	No	cosmic curated gnomAD
rs1287908718	595	V>M		No	gnomAD
rs761065646	596	I>M		No	ExAC TOPMed gnomAD
rs2102733834	597	G>D		No	Ensembl
rs1352340038	597	G>R		No	TOPMed gnomAD
rs1352340038	597	G>S		No	TOPMed gnomAD
rs1401384730	598	S>G		No	TOPMed
rs374640357	598	S>N		No	ESP ExAC TOPMed gnomAD
rs1386127376	599	N>S		No	gnomAD
rs769495459	600	K>T		No	Ensembl
rs2102733822	603	Q>*		No	Ensembl
rs2102733822	603	Q>E		No	Ensembl
TCGA novel	603	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1314689313	603	Q>R		No	TOPMed gnomAD
rs2102733816	604	M>I		No	Ensembl
rs768036175	604	M>T		No	ExAC TOPMed gnomAD
rs369900729	605	P>L		No	ESP ExAC gnomAD
rs2102733811	605	P>S		No	Ensembl
rs1277795014	606	S>A		No	TOPMed gnomAD
rs2102733807	606	S>C		No	Ensembl
COSM3864587	606	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1387667321	607	K>E		No	gnomAD
rs769530942	607	K>R		No	ExAC TOPMed gnomAD
rs769530942	607	K>T		No	ExAC TOPMed gnomAD
rs745533822	608	E>D		No	ExAC gnomAD
rs1576394819	609	D>G		No	Ensembl
rs2102733802	609	D>N		No	Ensembl
rs2102733802	609	D>Y		No	Ensembl
rs2102733799	610	A>T		No	Ensembl
rs2102733798	610	A>V		No	Ensembl
rs757112928	611	I>L		No	ExAC TOPMed gnomAD
rs751445776 COSM3718983	611	I>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated ExAC gnomAD
rs757112928	611	I>V		No	ExAC TOPMed gnomAD
rs2102733792	612	E>*		No	Ensembl
rs777826990	612	E>G		No	ExAC gnomAD
rs777826990	612	E>V		No	ExAC gnomAD
rs758284377	613	H>D		No	ExAC gnomAD
rs1059011	613	H>Q		No	Ensembl
rs752711176	613	H>R		No	ExAC gnomAD
rs759705521	614	F>L		No	ExAC TOPMed gnomAD
rs765336078	614	F>L		No	ExAC TOPMed gnomAD
rs2102733781 COSM78264	615	M>I	ovary [Cosmic]	No	cosmic curated Ensembl
rs1283104181	615	M>R		No	Ensembl
rs376654709 COSM1339294	615	M>V	large_intestine [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs1331560342	616	K>E		No	TOPMed gnomAD
rs1331560342	616	K>Q		No	TOPMed gnomAD
rs2102733777	618	Y>N		No	Ensembl
rs2102733772	619	E>Q		No	Ensembl
rs2102733769	620	E>G		No	Ensembl
rs2102733771	620	E>K		No	Ensembl
rs2102733771	620	E>Q		No	Ensembl
rs1049543741	623	G>A		No	TOPMed gnomAD
rs1049543741	623	G>E		No	TOPMed gnomAD
rs1387294607	623	G>R		No	TOPMed gnomAD
rs1387294607	623	G>W		No	TOPMed gnomAD
rs577466994	625	A>P		No	1000Genomes ExAC TOPMed gnomAD
rs577466994	625	A>S		No	1000Genomes ExAC TOPMed gnomAD
rs577466994 COSM904732	625	A>T	urinary_tract endometrium [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs146978206	625	A>V		No	ESP
rs2102733752	626	W>*		No	Ensembl
rs2102733748	627	H>D		No	Ensembl
rs2102733747	627	H>P		No	Ensembl
rs1175378809	627	H>Q		No	TOPMed gnomAD
rs2102733748	627	H>Y		No	Ensembl
rs2102733741	628	S>F		No	Ensembl
COSM904731	630	N>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs138228205 COSM1219296	632	T>M	large_intestine [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs138228205	632	T>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1664508522	633	K>R		No	TOPMed
rs933903405	634	Y>C		No	TOPMed gnomAD
rs2102733724	635	P>L		No	Ensembl
rs1378873414	636	K>E		No	gnomAD
rs13306137	638	F>L		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM904730	639	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1664508278	639	Y>N		No	gnomAD
rs2102733715	640	P>S		No	Ensembl
rs748106945	641	L>P		No	ExAC gnomAD
rs1558236428	641	L>W	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2102733705	642	E>*		No	Ensembl
rs2102733705	642	E>Q		No	Ensembl
rs778945113	643	I>L		No	ExAC TOPMed gnomAD
rs2102733702	644	D>E		No	Ensembl
rs755093118	645	Y>C		No	ExAC gnomAD
rs1664507633	646	G>D		No	Ensembl
rs2102732429	648	D>E		No	Ensembl
rs1457348947	648	D>G		No	TOPMed
rs2102732433	648	D>H		No	Ensembl
rs2102732433	648	D>N		No	Ensembl
rs1457348947	648	D>V		No	TOPMed
rs2102732433	648	D>Y		No	Ensembl
rs1664449912	649	E>*		No	Ensembl
COSM3484271 rs2102732425	649	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs1664449912	649	E>K		No	Ensembl
rs750660553	650	E>D		No	ExAC TOPMed gnomAD
rs2102732419	650	E>G		No	Ensembl
rs2102732421	650	E>Q		No	Ensembl
rs2102732419	650	E>V		No	Ensembl
rs767892316	651	A>G		No	ExAC TOPMed gnomAD
rs2102732415	651	A>P		No	Ensembl
rs2102732415	651	A>S		No	Ensembl
rs2102732415	651	A>T		No	Ensembl
rs767892316	651	A>V		No	ExAC TOPMed gnomAD
rs1664449653	652	V>A		No	TOPMed
rs1664449653	652	V>E		No	TOPMed
TCGA novel	652	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1370461881	653	K>*		No	TOPMed gnomAD
rs1370461881	653	K>E		No	TOPMed gnomAD
rs2102732402	653	K>N		No	Ensembl
rs2102732403	653	K>R		No	Ensembl
rs2102732400	654	K>N		No	Ensembl
rs2102732399	655	L>Q		No	Ensembl
rs2102732396	656	T>A		No	Ensembl
COSM4028707 rs2102732391	656	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2102732391	656	T>R		No	Ensembl
rs2102732396	656	T>S		No	Ensembl
rs2102732385	657	V>E		No	Ensembl
rs1664449534	657	V>I		No	Ensembl
rs1664449534	657	V>L		No	Ensembl
rs1188947962	658	N>S		No	gnomAD
rs2102732380	658	N>Y		No	Ensembl
rs907625395	659	P>A		No	TOPMed gnomAD
rs2102732372	659	P>H		No	Ensembl
rs2102732372	659	P>L		No	Ensembl
rs2102732372	659	P>R		No	Ensembl
rs907625395 COSM3484270	659	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs907625395	659	P>T		No	TOPMed gnomAD
rs2102732364	660	G>A		No	Ensembl
rs2102732364	660	G>D		No	Ensembl
rs2102732366	660	G>R		No	Ensembl
rs2102732366	660	G>S		No	Ensembl
rs2102732364	660	G>V		No	Ensembl
rs2102732359	661	T>I		No	Ensembl
rs1576393807	661	T>P		No	Ensembl
rs2102732359	661	T>S		No	Ensembl
rs1359459471	662	K>*		No	TOPMed gnomAD
rs1359459471	662	K>E		No	TOPMed gnomAD
rs752096724	662	K>M		No	ExAC TOPMed gnomAD
rs2102732352	662	K>N		No	Ensembl
rs752096724	662	K>R		No	ExAC TOPMed gnomAD
rs1576393797	663	S>A		No	Ensembl
rs2102732346	663	S>C		No	Ensembl
rs2102732346	663	S>F		No	Ensembl
rs1576393797	663	S>P		No	Ensembl
rs1576393797	663	S>T		No	Ensembl
rs2102732346	663	S>Y		No	Ensembl
rs145186011	664	K>M		No	ESP ExAC TOPMed gnomAD
rs2102732339	664	K>N		No	Ensembl
rs145186011	664	K>R		No	ESP ExAC TOPMed gnomAD
rs2102732338	665	L>F		No	Ensembl
rs1420929179	665	L>H		No	gnomAD
rs1420929179	665	L>P		No	gnomAD
rs2102732330	666	P>H		No	Ensembl
rs2102732330	666	P>L		No	Ensembl
rs2102732330	666	P>R		No	Ensembl
rs2102732331	666	P>S		No	Ensembl
rs2102732331	666	P>T		No	Ensembl
rs2102732325	667	K>M		No	Ensembl
rs765830412	668	P>A		No	ExAC gnomAD
rs1209508356	668	P>L		No	TOPMed
rs765830412	668	P>S		No	ExAC gnomAD
rs765830412	668	P>T		No	ExAC gnomAD
rs1270112522	669	V>A		No	TOPMed gnomAD
rs1270112522	669	V>D		No	TOPMed gnomAD
rs1270112522	669	V>G		No	TOPMed gnomAD
rs2102732319	669	V>I		No	Ensembl
rs2102732319	669	V>L		No	Ensembl
rs2102732311	670	Q>*		No	Ensembl
rs2102732311	670	Q>E		No	Ensembl
rs2102732304	670	Q>H		No	Ensembl
rs2102732309	670	Q>L		No	Ensembl
rs2102732309	670	Q>R		No	Ensembl
rs2102732297	671	D>E		No	Ensembl
rs933209014	672	L>F		No	TOPMed gnomAD
rs2102732294	672	L>H		No	Ensembl
TCGA novel rs933209014	672	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs2102732294	672	L>P		No	Ensembl
rs1664448639	673	I>M		No	gnomAD
rs2102732289	673	I>N		No	Ensembl
rs760357828	674	K>*		No	ExAC gnomAD
rs760357828	674	K>E		No	ExAC gnomAD
rs145512649	674	K>N		No	ESP ExAC TOPMed gnomAD
rs2102732271	675	M>I		No	Ensembl
rs2102732276	675	M>K		No	Ensembl
rs2102732279	675	M>L		No	Ensembl
rs2102732279	675	M>V		No	Ensembl
rs2102732269	676	I>F		No	Ensembl
rs1247607997	676	I>M		No	TOPMed gnomAD
rs2102732264	676	I>N		No	Ensembl
rs2102732264	676	I>S		No	Ensembl
rs2102732258	677	F>I		No	Ensembl
rs2102732256	677	F>L		No	Ensembl
rs2102732257	677	F>Y		No	Ensembl
rs2102732249	678	D>G		No	Ensembl
COSM425451 rs2102732254	678	D>H	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2102732254	678	D>N		No	Ensembl
rs2102732249	678	D>V		No	Ensembl
rs2102732254	678	D>Y		No	Ensembl
rs2102732245	679	V>E		No	Ensembl
rs2102732247	679	V>L		No	Ensembl
rs2102732247	679	V>M		No	Ensembl
rs2102732240	680	E>D		No	Ensembl
rs1479237968 COSM4834341	680	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl NCI-TCGA
rs2102732237	681	S>C		No	Ensembl
rs2102732237	681	S>G		No	Ensembl
rs2102732235	681	S>R		No	Ensembl
rs2102732229	682	M>I		No	Ensembl
rs2102732231	682	M>K		No	Ensembl
rs2102732233	682	M>L		No	Ensembl
rs2102732225	683	K>E		No	Ensembl
rs761657252	683	K>M		No	ExAC gnomAD
rs2102732221	683	K>N		No	Ensembl
rs761657252	683	K>R		No	ExAC gnomAD
rs2102732210	684	K>E		No	Ensembl
rs145719349	685	A>D		No	Ensembl
rs145719349	685	A>G		No	Ensembl
rs774134789	685	A>S		No	ExAC TOPMed gnomAD
rs774134789	685	A>T		No	ExAC TOPMed gnomAD
rs145719349 COSM109915	685	A>V	skin [Cosmic]	No	cosmic curated Ensembl
rs1412206170	686	M>I		No	gnomAD
rs2102732193	686	M>K		No	Ensembl
rs2102732188	687	V>E		No	Ensembl
rs1336922917	687	V>L		No	gnomAD
rs1336922917	687	V>M		No	gnomAD
rs2102732183	688	E>*		No	Ensembl
rs1410857050	688	E>D		No	TOPMed
rs2102732183	688	E>K		No	Ensembl
rs2102732175	689	Y>*		No	Ensembl
rs2102732176	689	Y>C		No	Ensembl
rs2102732180	689	Y>D		No	Ensembl
rs2102732180	689	Y>N		No	Ensembl
rs2102732173	690	E>*		No	Ensembl
rs2102732172	690	E>G		No	Ensembl
rs2102732173	690	E>K		No	Ensembl
rs2102732172	690	E>V		No	Ensembl
COSM5536479 rs377495505	691	I>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs755524804	692	D>N		No	ExAC gnomAD
rs1664359189	693	L>F		No	gnomAD
rs749893349	694	Q>P		No	ExAC TOPMed gnomAD
rs749893349	694	Q>R		No	ExAC TOPMed gnomAD
rs756877100	695	K>R		No	ExAC gnomAD
COSM1172108 rs2102730240	696	M>I	oesophagus [Cosmic]	No	cosmic curated Ensembl
rs1380129808	696	M>L		No	TOPMed
rs1034860806	697	P>S		No	TOPMed gnomAD
rs1034860806	697	P>T		No	TOPMed gnomAD
rs1664358758	699	G>A		No	TOPMed
rs751248806	699	G>R		No	ExAC gnomAD
rs751248806	699	G>W		No	ExAC gnomAD
rs1664358680	700	K>Q		No	TOPMed
rs1664358629	701	L>Q		No	Ensembl
rs2102730229	702	S>C		No	Ensembl
rs2102730226	702	S>R		No	Ensembl
rs1664358532	703	K>N		No	Ensembl
rs762714372	704	R>G		No	ExAC gnomAD
rs764841681	704	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs2102730217	704	R>S		No	Ensembl
rs2102730216	705	Q>*		No	Ensembl
rs765015644	707	Q>R		No	ExAC TOPMed gnomAD
rs1664358283	708	A>T		No	Ensembl
rs2102730207	708	A>V		No	Ensembl
rs758506201	709	A>S		No	ExAC TOPMed gnomAD
COSM380795 rs758506201	709	A>T	lung Variant assessed as Somatic; MODERATE impact. central_nervous_system [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1664358080	711	S>F		No	TOPMed
TCGA novel	713	L>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs905184374	716	V>I		No	Ensembl
rs1458089304	717	Q>*		No	TOPMed
rs1243950647	717	Q>H		No	TOPMed gnomAD
rs1167917554	718	Q>*		No	gnomAD
rs1167917554	718	Q>E		No	gnomAD
rs759524114	719	A>E		No	ExAC TOPMed gnomAD
rs2102728957	719	A>P		No	Ensembl
rs759524114	719	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1022723227	720	V>A		No	TOPMed gnomAD
rs1022723227	720	V>E		No	TOPMed gnomAD
rs1022723227	720	V>G		No	TOPMed gnomAD
rs2102728951	720	V>L		No	Ensembl
rs1664313537	721	S>F		No	TOPMed
rs1664313584	721	S>P		No	Ensembl
rs2102728942	722	Q>E		No	Ensembl
rs2102728940	722	Q>H		No	Ensembl
rs2102728942	722	Q>K		No	Ensembl
rs2102728941	722	Q>R		No	Ensembl
rs760899958	723	G>D		No	ExAC TOPMed gnomAD
rs1356168281	724	S>N		No	TOPMed gnomAD
rs1287873689	724	S>R		No	gnomAD
rs2102728931	725	S>I		No	Ensembl
rs2102728931	725	S>N		No	Ensembl
rs13306119	725	S>R		No	1000Genomes ExAC TOPMed gnomAD
TCGA novel	726	D>E	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1298705107	726	D>E		No	gnomAD
rs748421463	726	D>N		No	ExAC TOPMed gnomAD
TCGA novel	727	S>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs369734863	727	S>A		No	ESP ExAC TOPMed gnomAD
rs2102728918	728	Q>R		No	Ensembl
rs1173741700	729	I>F		No	TOPMed gnomAD
rs1173741700	729	I>V		No	TOPMed gnomAD
rs2102728908	730	L>P		No	Ensembl
rs1377173886	731	D>E		No	TOPMed gnomAD
rs1664312961	732	L>F		No	gnomAD
rs1664312961	732	L>V		No	gnomAD
COSM3484269 rs766670559	735	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs780595440	735	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs780595440	735	R>L		No	ExAC TOPMed gnomAD
rs780595440	735	R>P		No	ExAC TOPMed gnomAD
rs2102728890	736	F>I		No	Ensembl
rs376201473	736	F>L		No	ESP ExAC TOPMed gnomAD
rs2102728890	736	F>L		No	Ensembl
rs1417820533	738	T>I		No	gnomAD
TCGA novel	739	L>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2102728879	739	L>M		No	Ensembl
rs2102728875	740	I>V		No	Ensembl
rs2102728868	741	P>L		No	Ensembl
rs2102728869	741	P>S		No	Ensembl
rs1054401277	742	H>D		No	gnomAD
rs761046396	742	H>Q		No	ExAC TOPMed gnomAD
rs1054401277	742	H>Y		No	gnomAD
rs201652970	743	D>H		No	TOPMed gnomAD
rs201652970	743	D>N		No	TOPMed gnomAD
rs201652970	743	D>Y		No	TOPMed gnomAD
rs542812781	744	F>S		No	1000Genomes TOPMed
rs778540978	744	F>V		No	ExAC TOPMed gnomAD
rs2102728860	745	G>V		No	Ensembl
rs2102728859	746	M>I		No	Ensembl
rs1664311737	746	M>V		No	gnomAD
rs2102728856	747	K>N		No	Ensembl
rs2102728854	748	K>N		No	Ensembl
rs920832776	748	K>R		No	TOPMed gnomAD
rs754888448	749	P>A		No	ExAC gnomAD
rs753816659	749	P>L		No	ExAC
COSM3785167 rs766364807	750	P>L	pancreas [Cosmic]	No	cosmic curated ExAC gnomAD
rs1167536447	751	L>F		No	TOPMed gnomAD
rs1167536447	751	L>V		No	TOPMed gnomAD
rs750433158	753	N>S		No	ExAC gnomAD
rs1218420928	754	N>K		No	TOPMed
rs2102728839	755	A>V		No	Ensembl
rs1475707151	756	D>E		No	gnomAD
rs2102728837	756	D>N		No	Ensembl
rs1365223171	757	S>G		No	gnomAD
rs2102728832	757	S>N		No	Ensembl
rs572288761	757	S>R		No	1000Genomes ExAC gnomAD
rs761907633	759	Q>*		No	ExAC gnomAD
rs761907633	759	Q>E		No	ExAC gnomAD
rs1558234057	759	Q>R		No	Ensembl
rs910261998	760	A>P		No	gnomAD
rs910261998	760	A>S		No	gnomAD
rs910261998	760	A>T		No	gnomAD
rs1136410 VAR_014715 RCV001674523	762	V>A		No	ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs199498180	762	V>L		No	gnomAD
rs771470250	764	M>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs747640398	765	L>F		No	ExAC gnomAD
rs773742138	765	L>P		No	ExAC gnomAD
rs1324617238	766	D>E		No	TOPMed
COSM3789555	766	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2102728427	766	D>V		No	Ensembl
rs768386505	767	N>K		No	ExAC gnomAD
rs957199512	767	N>S		No	Ensembl
rs1664295870	768	L>V		No	TOPMed
rs1664295599	770	D>E		No	TOPMed
rs756037053	770	D>N		No	ExAC TOPMed gnomAD
rs2102728401	771	I>T		No	Ensembl
rs2102728393	772	E>G		No	Ensembl
rs781122492	772	E>K		No	ExAC gnomAD
rs2102728388	773	V>E		No	Ensembl
rs2102728381	774	A>G		No	Ensembl
rs2102728383	774	A>T		No	Ensembl
rs1304733675	775	Y>C		No	TOPMed gnomAD
rs2102728375	776	S>N		No	Ensembl
rs2102728370 COSM4392848	778	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs1664295254	778	L>R		No	TOPMed
rs2102728370	778	L>V		No	Ensembl
rs2102728364	779	R>S		No	Ensembl
rs1558233883	780	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs751615758	782	S>A		No	ExAC gnomAD
rs2102728354	782	S>C		No	Ensembl
rs751615758	782	S>T		No	ExAC gnomAD
rs2102728352	783	D>N		No	Ensembl
rs764180037	784	D>G		No	ExAC gnomAD
rs769670480	785	S>G		No	Ensembl
rs2102728350	786	S>I		No	Ensembl
rs1558233876	788	D>N		No	Ensembl
rs139753887	789	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs374662166	791	D>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs374662166	791	D>N		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2102728338	792	V>I		No	Ensembl
rs2102728336	793	N>K		No	Ensembl
rs1300206117	793	N>S		No	gnomAD
rs1664294336	794	Y>C		No	TOPMed
rs2102728329	795	E>*		No	Ensembl
rs760004255	795	E>A		No	ExAC gnomAD
rs2102728327	797	L>H		No	Ensembl
rs776876484	797	L>I		No	ExAC TOPMed gnomAD
rs1664294104	798	K>N		No	Ensembl
rs766847288	798	K>R		No	ExAC TOPMed gnomAD
TCGA novel rs2102728322	799	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
TCGA novel	799	T>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	800	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1664294007 COSM3804102	800	D>N	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed
rs1664293892	802	K>E		No	Ensembl
TCGA novel	803	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1664260016	803	V>L		No	Ensembl
COSM6124885	804	V>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1210041549	805	D>V		No	gnomAD
rs1664259902	806	R>G		No	Ensembl
rs755163226	806	R>K		No	ExAC TOPMed gnomAD
rs755163226	806	R>T		No	ExAC TOPMed gnomAD
rs1664259768	807	D>N		No	TOPMed
rs1278233281	808	S>A		No	gnomAD
rs1445001712	808	S>C		No	TOPMed gnomAD
rs1445001712	808	S>F		No	TOPMed gnomAD
COSM4028705	808	S>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs754194824	809	E>K		No	ExAC TOPMed gnomAD
rs2102727591	810	E>K		No	Ensembl
rs2102727591	810	E>Q		No	Ensembl
COSM301128	811	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1165949249	812	E>D		No	gnomAD
rs761226300	812	E>K		No	ExAC TOPMed gnomAD
rs200630156	814	I>V		No	1000Genomes ExAC TOPMed gnomAD
rs763681464	815	R>G		No	ExAC gnomAD
rs370284028	815	R>K		No	ESP ExAC TOPMed gnomAD
rs1470504355	815	R>S		No	gnomAD
rs370284028	815	R>T		No	ESP ExAC TOPMed gnomAD
rs775141487	817	Y>C		No	ExAC gnomAD
rs769447847	819	K>N		No	ExAC TOPMed gnomAD
rs891855105	819	K>R		No	TOPMed gnomAD
rs891855105	819	K>T		No	TOPMed gnomAD
COSM3966305	820	N>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs767454108	822	H>R		No	Ensembl
rs759131733	823	A>G		No	ExAC gnomAD
rs759131733	823	A>V		No	ExAC gnomAD
rs149375401	824	T>A		No	ESP ExAC TOPMed gnomAD
rs1324741810	824	T>I		No	TOPMed gnomAD
rs149375401	824	T>P		No	ESP ExAC TOPMed gnomAD
rs2102727560	826	H>Y		No	Ensembl
rs1352101996	827	N>D		No	gnomAD
rs1136420	827	N>S		No	Ensembl
rs147825810	828	A>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs374829795	828	A>S		No	gnomAD
rs374829795	828	A>T		No	gnomAD
rs147825810	828	A>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1664256841	830	D>G		No	gnomAD
rs748162332	831	L>V		No	ExAC TOPMed gnomAD
rs2102727538	832	E>K		No	Ensembl
rs2102727536	833	V>L		No	Ensembl
rs778998160	834	I>T		No	ExAC TOPMed gnomAD
rs1037441536	834	I>V		No	Ensembl
rs1320424324	835	D>H		No	TOPMed gnomAD
rs1320424324 COSM904729	835	D>N	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
TCGA novel	836	I>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs760406398	836	I>M		No	ExAC gnomAD
rs770746875	836	I>T		No	ExAC gnomAD
rs1180220979	837	F>C		No	TOPMed gnomAD
rs2102726952	838	K>N		No	Ensembl
rs1664232585	838	K>Q		No	TOPMed
rs979769613	839	I>L		No	TOPMed gnomAD
rs979769613	839	I>V		No	TOPMed gnomAD
TCGA novel	840	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs772996633	840	E>Q		No	ExAC gnomAD
rs376334288	841	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP NCI-TCGA
rs748109048	841	R>H		No	ExAC TOPMed gnomAD
rs748109048	841	R>P		No	ExAC TOPMed gnomAD
TCGA novel	842	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2102726939	843	G>D		No	Ensembl
rs557105429	843	G>S		No	ExAC TOPMed gnomAD
rs2102726939	843	G>V		No	Ensembl
rs1407829951	844	E>K		No	gnomAD
rs2102726928	845	C>G		No	Ensembl
rs2102726928	845	C>S		No	Ensembl
rs2102726925	845	C>Y		No	Ensembl
rs186612310	846	Q>K		No	1000Genomes ExAC gnomAD
rs750773674 COSM4028704	847	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs182639036	847	R>H		No	1000Genomes ExAC TOPMed gnomAD
rs2102726911	848	Y>D		No	Ensembl
rs2102726907	850	P>A		No	Ensembl
rs1486968445	851	F>I		No	gnomAD
rs764800807	852	K>E		No	ExAC TOPMed gnomAD
rs2102726899	852	K>N		No	Ensembl
rs764800807	852	K>Q		No	ExAC TOPMed gnomAD
rs759027496	853	Q>*		No	ExAC gnomAD
rs753403734	853	Q>R		No	ExAC gnomAD
rs1354895558	854	L>F		No	gnomAD
rs1354895558	854	L>V		No	gnomAD
COSM283709	855	H>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs190105316	857	R>P		No	1000Genomes ExAC TOPMed gnomAD
COSM210183 rs190105316	857	R>Q	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1381414385	858	R>K		No	TOPMed
rs772945227	859	L>F		No	ExAC TOPMed gnomAD
rs559223809	859	L>W		No	1000Genomes gnomAD
rs1439675776	860	L>M		No	gnomAD
rs1664231115	860	L>P		No	TOPMed
rs1439675776	860	L>V		No	gnomAD
rs1664230999	861	W>*		No	gnomAD
rs2102726871	863	G>E		No	Ensembl
rs2102726875	863	G>R		No	Ensembl
rs2102726871	863	G>V		No	Ensembl
rs2102726875	863	G>W		No	Ensembl
rs993561075	864	S>A		No	Ensembl
rs993561075	864	S>T		No	Ensembl
rs761710686	865	R>K		No	ExAC gnomAD
rs1460648491	865	R>S		No	TOPMed gnomAD
rs2102726859	866	T>I		No	Ensembl
rs774209977	868	N>S		No	ExAC TOPMed gnomAD
rs1664230414	869	F>S		No	TOPMed
rs2102726846	870	A>T		No	Ensembl
rs2102726844	870	A>V		No	Ensembl
rs2102726840	873	L>M		No	Ensembl
rs2102726836	873	L>P		No	Ensembl
rs1664230120	874	S>C		No	Ensembl
rs1664230120	874	S>Y		No	Ensembl
rs2102726832	875	Q>K		No	Ensembl
rs746139482 COSM3385796	878	R>W	Variant assessed as Somatic; MODERATE impact. pancreas [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1664229844	879	I>M		No	TOPMed
rs1177152083	879	I>R		No	TOPMed gnomAD
rs2102726823	880	A>S		No	Ensembl
rs2102726823	880	A>T		No	Ensembl
rs2102726822	880	A>V		No	Ensembl
rs2102726814	881	P>L		No	Ensembl
rs2102726814	881	P>R		No	Ensembl
rs1479824551	881	P>S		No	gnomAD
rs11541664 COSM1668519	882	P>L	skin [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs11541664	882	P>R		No	1000Genomes ExAC TOPMed gnomAD
rs2102726802	883	E>D		No	Ensembl
rs2102726805	883	E>K		No	Ensembl
rs1664229455	884	A>V		No	TOPMed gnomAD
rs2102726793	885	P>R		No	Ensembl
rs776746526	886	V>L		No	ExAC TOPMed gnomAD
rs776746526	886	V>M		No	ExAC TOPMed gnomAD
rs2102726280	888	G>D		No	Ensembl
rs2102726280	888	G>V		No	Ensembl
rs778232568	889	Y>*		No	ExAC gnomAD
rs2102726275	892	G>C		No	Ensembl
rs2102726269	894	G>E		No	Ensembl
rs2102726272	894	G>R		No	Ensembl
COSM464036	895	I>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1320440	895	I>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1664204611	896	Y>C		No	TOPMed gnomAD
rs1368534766	897	F>Y		No	gnomAD
rs139425386	898	A>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs139425386	898	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2102726255	898	A>V		No	Ensembl
COSM1320441	899	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1664204261	900	M>I		No	TOPMed gnomAD
rs1289547377	900	M>L		No	TOPMed gnomAD
rs1289547377	900	M>V		No	TOPMed gnomAD
rs2102726236	901	V>L		No	Ensembl
rs2102726231	902	S>C		No	Ensembl
rs2102726226 COSM6056903	904	S>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2102726218	905	A>P		No	Ensembl
rs2102726218	905	A>S		No	Ensembl
rs2102726218	905	A>T		No	Ensembl
rs2102726214	905	A>V		No	Ensembl
rs1664204008	907	Y>*		No	gnomAD
TCGA novel	907	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1358429902	907	Y>H		No	TOPMed
rs1059040	908	C>F		No	Ensembl
rs1059040	908	C>Y		No	Ensembl
rs149314007	909	H>L		No	ESP ExAC TOPMed gnomAD
rs149314007	909	H>R		No	ESP ExAC TOPMed gnomAD
TCGA novel	910	T>E	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs866456432	910	T>M		No	TOPMed gnomAD
rs1453603262	912	Q>H		No	TOPMed
rs2102726191	912	Q>R		No	Ensembl
rs2102726187	913	G>A		No	Ensembl
rs1664203640	913	G>R		No	Ensembl
rs1576389834	914	D>E		No	TOPMed
rs187041817	914	D>G		No	1000Genomes ExAC TOPMed gnomAD
rs1664203595	914	D>Y		No	TOPMed
rs1393725994	916	I>V		No	gnomAD
rs61731502	917	G>A		No	TOPMed gnomAD
rs2102726173	917	G>C		No	Ensembl
rs139592583	919	I>M		No	ESP ExAC TOPMed gnomAD
rs1470565638	919	I>V		No	TOPMed gnomAD
rs1558232864	920	L>V		No	Ensembl
rs1261177999	921	L>V		No	gnomAD
rs1210082971	924	V>I		No	gnomAD
rs2102726156	925	A>S		No	Ensembl
rs2102726153	927	G>E		No	Ensembl
rs777424665	929	M>I		No	ExAC TOPMed gnomAD
rs1664202507	929	M>T		No	TOPMed
rs189410139	930	Y>C		No	1000Genomes ExAC TOPMed gnomAD
TCGA novel	931	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1558232578	932	L>Q		No	Ensembl
rs2102725657	933	K>N		No	Ensembl
rs1664184586	933	K>T		No	Ensembl
rs1030741160	935	A>G		No	gnomAD
rs759579130	935	A>P		No	ExAC TOPMed gnomAD
rs759579130	935	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1030741160	935	A>V		No	gnomAD
rs753922770	937	H>R		No	ExAC TOPMed gnomAD
rs999794080	938	I>N		No	Ensembl
rs2102725630	939	S>N		No	Ensembl
rs773554330	940	K>N		No	ExAC TOPMed gnomAD
rs3219145 VAR_019173	940	K>R		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs3219145	940	K>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1664183804	941	L>S		No	Ensembl
rs1274856111	943	K>E		No	TOPMed gnomAD
rs772314430	943	K>R		No	ExAC TOPMed gnomAD
rs1396916105	944	G>A		No	TOPMed gnomAD
rs1396916105 COSM1663319	944	G>D	kidney [Cosmic]	No	cosmic curated TOPMed gnomAD
rs762166408	945	K>R		No	ExAC TOPMed gnomAD
rs774725249	946	H>R		No	ExAC gnomAD
rs758843166	947	S>N		No	ExAC TOPMed gnomAD
rs758843166	947	S>T		No	ExAC TOPMed gnomAD
rs1433769021	950	G>S		No	Ensembl
rs1350640673	953	K>E		No	gnomAD
rs778821909	955	T>I		No	ExAC gnomAD
rs778821909	955	T>N		No	ExAC gnomAD
rs749228641	956	P>L		No	ExAC gnomAD
rs78381515	956	P>S		No	ExAC TOPMed gnomAD
rs1664152383	957	D>H		No	Ensembl
rs1664152245	958	P>L		No	Ensembl
rs779988758 COSM1339290	958	P>S	large_intestine [Cosmic]	No	cosmic curated ExAC gnomAD
rs756032381	959	S>A		No	ExAC gnomAD
rs2102724943	960	A>S		No	Ensembl
rs1324323919	961	N>D		No	gnomAD
rs1400222446	961	N>K		No	gnomAD
rs1257694833	962	I>F		No	TOPMed gnomAD
rs1257694833	962	I>V		No	TOPMed gnomAD
rs767540769	963	S>N		No	ExAC gnomAD
rs1664151724	963	S>R		No	TOPMed
rs767540769	963	S>T		No	ExAC gnomAD
rs201340386	964	L>P		No	1000Genomes
rs1215459072	965	D>G		No	gnomAD
rs751844182	966	G>D		No	ExAC TOPMed gnomAD
rs199689226	968	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes NCI-TCGA
rs1419348847	968	D>H		No	TOPMed gnomAD
rs1419348847	968	D>Y		No	TOPMed gnomAD
rs201004247	969	V>A		No	1000Genomes
rs775722001	969	V>F		No	ExAC TOPMed gnomAD
rs775722001	969	V>I		No	ExAC TOPMed gnomAD
rs1191796720	970	P>S		No	gnomAD
rs1444805829	971	L>F		No	TOPMed gnomAD
rs1444805829	971	L>V		No	TOPMed gnomAD
rs201506704	972	G>E		No	1000Genomes
rs2102724912	973	T>S		No	Ensembl
rs772757903 COSM378915	974	G>R	lung [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs771750970	974	G>V		No	ExAC TOPMed gnomAD
rs1216944456	977	S>C		No	TOPMed
rs1022423194	978	G>C		No	TOPMed
rs747801045	980	N>H		No	ExAC TOPMed gnomAD
rs2102724899	981	D>H		No	Ensembl
rs1664149615	982	T>A		No	Ensembl
rs1275684619	982	T>I		No	TOPMed gnomAD
rs1275684619	982	T>S		No	TOPMed gnomAD
rs1664148968	988	E>K		No	TOPMed
rs1664138667	990	I>V		No	TOPMed
rs1576388832	991	V>A		No	Ensembl
rs1664138323	992	Y>C		No	TOPMed gnomAD
rs1664138257	993	D>N		No	TOPMed
rs370063774	994	I>T		No	ESP TOPMed gnomAD
rs2102724613	995	A>T		No	Ensembl
rs779333314	998	N>K		No	ExAC TOPMed gnomAD
rs1317162780	1000	K>E		No	TOPMed gnomAD
rs2102724595	1005	L>P		No	Ensembl
rs754245878	1008	N>D		No	ExAC TOPMed gnomAD
COSM6061683 COSM533065 rs1219278582	1008	N>S	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1576388809	1010	K>R		No	gnomAD
rs1576388806	1011	T>P		No	Ensembl
COSM3864586	1012	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs138906127	1013	L>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1664136352	1014	W>*		No	gnomAD
rs1664136402	1014	W>*		No	TOPMed gnomAD
rs1664136352	1014	W>C		No	gnomAD
TCGA novel	1014	W>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with P09874

8 regional properties for P09874

Type	Name	Position	InterPro Accession
domain	BRCT domain	385 - 466	IPR001357
domain	Zinc finger, PARP-type	9 - 93	IPR001510-1
domain	Zinc finger, PARP-type	113 - 203	IPR001510-2
domain	Poly(ADP-ribose) polymerase, regulatory domain	662 - 794	IPR004102
domain	WGR domain	542 - 638	IPR008893
domain	Poly(ADP-ribose) polymerase, catalytic domain	788 - 1014	IPR012317
domain	PARP1-like, PADR1 domain, zinc ribbon fold	291 - 331	IPR012982
domain	PARP1-like, PADR1 domain, N-terminal helical subdomain	231 - 290	IPR049296

Functions

		Description
EC Number	2.4.2.30	Pentosyltransferases
Subcellular Localization	Chromosome Nucleus Nucleus, nucleolus Cytoplasm, cytosol	Localizes to sites of DNA damage (PubMed:22683995, PubMed:23230272, PubMed:26344098, PubMed:27568560, PubMed:30675909, PubMed:32241924, PubMed:32358582, PubMed:34625544, PubMed:34795260) Recognizes (via PARP-type zinc-fingers) and binds DNA strand breaks (PubMed:22683995) Also binds normal/undamaged chromatin (PubMed:15607977) Auto poly-ADP-ribosylation promotes dissociation from chromatin (PubMed:15607977, PubMed:30675909, PubMed:32358582, PubMed:34625544) Extracted from chromatin by VCP/p97 following sumoylation and ubiquitination (PubMed:35013556) Translocates from the nucleus to the cytosol following phosphorylation by PRKDC (PubMed:35460603) Recruited to replication forks following interaction with CARM1 (PubMed:33412112)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

16 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
chromosome, telomeric region	The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres).
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
nuclear body	Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins.
nuclear envelope	The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space).
nuclear replication fork	The Y-shaped region of a nuclear replicating DNA molecule, resulting from the separation of the DNA strands and in which the synthesis of new strands takes place. Also includes associated protein complexes.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.
protein-DNA complex	A macromolecular complex containing both protein and DNA molecules.
site of DNA damage	A region of a chromosome at which DNA damage has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix.
site of double-strand break	A region of a chromosome at which a DNA double-strand break has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix.
transcription regulator complex	A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription.

29 GO annotations of molecular function

Name	Definition
chromatin binding	Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
damaged DNA binding	Binding to damaged DNA.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
histone deacetylase binding	Binding to histone deacetylase.
identical protein binding	Binding to an identical protein or proteins.
NAD binding	Binding to nicotinamide adenine dinucleotide, a coenzyme involved in many redox and biosynthetic reactions; binding may be to either the oxidized form, NAD+, or the reduced form, NADH.
NAD DNA ADP-ribosyltransferase activity	Catalysis of the transfer of the ADP-ribose group of NAD+ to a residue in double-stranded DNA.
NAD+ ADP-ribosyltransferase activity	Catalysis of the reaction
NAD+- protein-aspartate ADP-ribosyltransferase activity	Catalysis of the reaction
NAD+-histone H2BE35 glutamate ADP-ribosyltransferase activity	Catalysis of the transfer of ADP-ribose groups to the glutamate-35 residue of the N-terminal tail of histone H2B (or an equivalent residue).
NAD+-histone H2BS6 serine ADP-ribosyltransferase activity	Catalysis of the transfer of ADP-ribose groups to the serine-6 or an equivalent residue of the N-terminal tail of histone H2B.
NAD+-histone H3S10 serine ADP-ribosyltransferase activity	Catalysis of the transfer of ADP-ribose groups to the serine-10 or an equivalent residue of the N-terminal tail of histone H3.
NAD+-protein ADP-ribosyltransferase activity	Catalysis of the reaction
NAD+-protein-glutamate ADP-ribosyltransferase activity	Catalysis of the reaction
NAD+-protein-histidine ADP-ribosyltransferase activity	Catalysis of the reaction
NAD+-protein-serine ADP-ribosyltransferase activity	Catalysis of the reaction
NAD+-protein-tyrosine ADP-ribosyltransferase activity	Catalysis of the reaction
nuclear estrogen receptor binding	Binding to a nuclear estrogen receptor.
nucleosome binding	Binding to a nucleosome, a complex comprised of DNA wound around a multisubunit core and associated proteins, which forms the primary packing unit of DNA into higher order structures.
nucleotidyltransferase activity	Catalysis of the transfer of a nucleotidyl group to a reactant.
protein homodimerization activity	Binding to an identical protein to form a homodimer.
protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
R-SMAD binding	Binding to a receptor-regulated SMAD signaling protein.
RNA binding	Binding to an RNA molecule or a portion thereof.
RNA polymerase II-specific DNA-binding transcription factor binding	Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription.
transcription regulator activator activity	A molecular function regulator that increases the activity of a transcription regulator via direct binding and/or post-translational modification.
ubiquitin protein ligase binding	Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins.
zinc ion binding	Binding to a zinc ion (Zn).

56 GO annotations of biological process

Name	Definition
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
ATP generation from poly-ADP-D-ribose	The process of generating ATP in the nucleus from poly-ADP-D-ribose. Nuclear ATP generation is required for extensive chromatin remodeling events that are energy-consuming.
carbohydrate biosynthetic process	The chemical reactions and pathways resulting in the formation of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y.
cellular response to amyloid-beta	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 amyloid-beta stimulus.
cellular response to insulin stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms.
cellular response to nerve growth factor stimulus	A 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 nerve growth factor stimulus.
cellular response to oxidative stress	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 oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals.
cellular response to UV	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers.
cellular response to zinc ion	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 zinc ion stimulus.
decidualization	The cellular and vascular changes occurring in the endometrium of the pregnant uterus just after the onset of blastocyst implantation. This process involves the proliferation and differentiation of the fibroblast-like endometrial stromal cells into large, polyploid decidual cells that eventually form the maternal component of the placenta.
DNA ADP-ribosylation	The covalent attachment of an ADP-ribosyl group to a residue in double-stranded DNA.
DNA damage response	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 stimulus indicating damage to its DNA from environmental insults or errors during metabolism.
DNA repair	The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway.
double-strand break repair	The repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix.
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
macrophage differentiation	The process in which a relatively unspecialized monocyte acquires the specialized features of a macrophage.
mitochondrial DNA metabolic process	The chemical reactions and pathways involving mitochondrial DNA.
mitochondrial DNA repair	The process of restoring mitochondrial DNA after damage.
mitochondrion organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components.
negative regulation of adipose tissue development	Any process that stops, prevents or reduces the frequency, rate or extent of adipose tissue development.
negative regulation of ATP biosynthetic process	Any process that stops, prevents or reduces the frequency, rate or extent of ATP biosynthetic process.
negative regulation of cGAS/STING signaling pathway	Any process that stops, prevents or reduces the frequency, rate or extent of cGAS/STING signaling pathway.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of innate immune response	Any process that stops, prevents, or reduces the frequency, rate or extent of the innate immune response.
negative regulation of telomere maintenance via telomere lengthening	Any process that stops, prevents or reduces the frequency, rate or extent of telomere maintenance via telomere lengthening.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
negative regulation of transcription elongation by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides, catalyzed by RNA polymerase II.
positive regulation of canonical NF-kappaB signal transduction	Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling.
positive regulation of cardiac muscle hypertrophy	Any process that increases the rate, frequency or extent of the enlargement or overgrowth of all or part of the heart due to an increase in size (not length) of individual cardiac muscle fibers, without cell division.
positive regulation of DNA-templated transcription, elongation	Any process that activates or increases the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides catalyzed by a DNA-dependent RNA polymerase.
positive regulation of double-strand break repair via homologous recombination	Any process that activates or increases the frequency, rate or extent of double-strand break repair via homologous recombination.
positive regulation of intracellular estrogen receptor signaling pathway	Any process that activates or increases the frequency, rate or extent of the activity of an intracellular estrogen receptor signaling pathway.
positive regulation of mitochondrial depolarization	Any process that activates, maintains or increases the frequency, rate or extent of the change in the membrane potential of the mitochondria from negative to positive.
positive regulation of myofibroblast differentiation	Any process that activates or increases the frequency, rate or extent of myofibroblast differentiation.
positive regulation of necroptotic process	Any process that increases the rate, frequency or extent of a necroptotic process, a necrotic cell death process that results from the activation of endogenous cellular processes, such as signaling involving death domain receptors or Toll-like receptors.
positive regulation of protein localization to nucleus	Any process that activates or increases the frequency, rate or extent of protein localization to nucleus.
positive regulation of single strand break repair	Any process that activates or increases the frequency, rate or extent of single strand break repair.
positive regulation of SMAD protein signal transduction	Any process that increases the rate, frequency or extent of SMAD protein signal transduction. Pathway-restricted SMAD proteins and common-partner SMAD proteins are involved in the transforming growth factor beta receptor signaling pathways.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
protein auto-ADP-ribosylation	The ADP-ribosylation by a protein of one or more of its own amino acid residues, or residues on an identical protein.
protein autoprocessing	Processing which a protein carries out itself. This involves actions such as the autolytic removal of residues to generate the mature form of the protein.
protein localization to chromatin	Any process in which a protein is transported to, or maintained at, a part of a chromosome that is organized into chromatin.
protein modification process	The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification).
protein poly-ADP-ribosylation	The transfer of multiple ADP-ribose residues from NAD to a protein amino acid, forming a poly(ADP-ribose) chain.
regulation of base-excision repair	Any process that modulates the frequency, rate or extent of base-excision repair.
regulation of catalytic activity	Any process that modulates the activity of an enzyme.
regulation of circadian sleep/wake cycle, non-REM sleep	Any process that modulates the frequency, rate or extent of non-rapid eye movement sleep.
regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	Any process that modulates the frequency, rate or extent of oxidative stress-induced neuron intrinsic apoptotic signaling pathway.
regulation of protein localization	Any process that modulates the frequency, rate or extent of any process in which a protein is transported to, or maintained in, a specific location.
replication fork reversal	Replication fork processing that involves the unwinding of blocked forks to form four-stranded structures resembling Holliday junctions, which are subsequently resolved.
response to aldosterone	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an aldosterone stimulus.
response to gamma radiation	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a gamma radiation stimulus. Gamma radiation is a form of electromagnetic radiation (EMR) or light emission of a specific frequency produced from sub-atomic particle interaction, such as electron-positron annihilation and radioactive decay. Gamma rays are generally characterized as EMR having the highest frequency and energy, and also the shortest wavelength, within the electromagnetic radiation spectrum.
signal transduction involved in regulation of gene expression	Any process that modulates the frequency, rate or extent of gene expression as a consequence of a process in which a signal is released and/or conveyed from one location to another.
telomere maintenance	Any process that contributes to the maintenance of proper telomeric length and structure by affecting and monitoring the activity of telomeric proteins, the length of telomeric DNA and the replication and repair of the DNA. These processes includes those that shorten, lengthen, replicate and repair the telomeric DNA sequences.
transcription by RNA polymerase II	The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs).
transforming growth factor beta receptor signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to a transforming growth factor beta receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.

14 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P18493	PARP1	Poly [ADP-ribose] polymerase 1	Bos taurus (Bovine)	SS
P26446	PARP1	Poly [ADP-ribose] polymerase 1	Gallus gallus (Chicken)	SS
P35875	Parp	Poly [ADP-ribose] polymerase	Drosophila melanogaster (Fruit fly)	SS
Q9Y6F1	PARP3	Protein mono-ADP-ribosyltransferase PARP3	Homo sapiens (Human)	PR
Q9UGN5	PARP2	Poly [ADP-ribose] polymerase 2	Homo sapiens (Human)	EV
O50017	PARP2	Poly [ADP-ribose] polymerase 2	Zea mays (Maize)	SS
O88554	Parp2	Poly [ADP-ribose] polymerase 2	Mus musculus (Mouse)	SS
P11103	Parp1	Poly [ADP-ribose] polymerase 1	Mus musculus (Mouse)	SS
P27008	Parp1	Poly [ADP-ribose] polymerase 1	Rattus norvegicus (Rat)	SS
Q0JMY1	PARP2-B	Poly [ADP-ribose] polymerase 2-B	Oryza sativa subsp. japonica (Rice)	SS
Q5Z8Q9	PARP2-A	Poly [ADP-ribose] polymerase 2-A	Oryza sativa subsp. japonica (Rice)	SS
Q11207	PARP2	Poly [ADP-ribose] polymerase 2	Arabidopsis thaliana (Mouse-ear cress)	SS
Q9ZP54	PARP1	Poly [ADP-ribose] polymerase 1	Arabidopsis thaliana (Mouse-ear cress)	SS
Q5RHR0	parp1	Poly [ADP-ribose] polymerase 1	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MAESSDKLYR	VEYAKSGRAS	CKKCSESIPK	DSLRMAIMVQ	SPMFDGKVPH	WYHFSCFWKV
70	80	90	100	110	120
GHSIRHPDVE	VDGFSELRWD	DQQKVKKTAE	AGGVTGKGQD	GIGSKAEKTL	GDFAAEYAKS
130	140	150	160	170	180
NRSTCKGCME	KIEKGQVRLS	KKMVDPEKPQ	LGMIDRWYHP	GCFVKNREEL	GFRPEYSASQ
190	200	210	220	230	240
LKGFSLLATE	DKEALKKQLP	GVKSEGKRKG	DEVDGVDEVA	KKKSKKEKDK	DSKLEKALKA
250	260	270	280	290	300
QNDLIWNIKD	ELKKVCSTND	LKELLIFNKQ	QVPSGESAIL	DRVADGMVFG	ALLPCEECSG
310	320	330	340	350	360
QLVFKSDAYY	CTGDVTAWTK	CMVKTQTPNR	KEWVTPKEFR	EISYLKKLKV	KKQDRIFPPE
370	380	390	400	410	420
TSASVAATPP	PSTASAPAAV	NSSASADKPL	SNMKILTLGK	LSRNKDEVKA	MIEKLGGKLT
430	440	450	460	470	480
GTANKASLCI	STKKEVEKMN	KKMEEVKEAN	IRVVSEDFLQ	DVSASTKSLQ	ELFLAHILSP
490	500	510	520	530	540
WGAEVKAEPV	EVVAPRGKSG	AALSKKSKGQ	VKEEGINKSE	KRMKLTLKGG	AAVDPDSGLE
550	560	570	580	590	600
HSAHVLEKGG	KVFSATLGLV	DIVKGTNSYY	KLQLLEDDKE	NRYWIFRSWG	RVGTVIGSNK
610	620	630	640	650	660
LEQMPSKEDA	IEHFMKLYEE	KTGNAWHSKN	FTKYPKKFYP	LEIDYGQDEE	AVKKLTVNPG
670	680	690	700	710	720
TKSKLPKPVQ	DLIKMIFDVE	SMKKAMVEYE	IDLQKMPLGK	LSKRQIQAAY	SILSEVQQAV
730	740	750	760	770	780
SQGSSDSQIL	DLSNRFYTLI	PHDFGMKKPP	LLNNADSVQA	KVEMLDNLLD	IEVAYSLLRG
790	800	810	820	830	840
GSDDSSKDPI	DVNYEKLKTD	IKVVDRDSEE	AEIIRKYVKN	THATTHNAYD	LEVIDIFKIE
850	860	870	880	890	900
REGECQRYKP	FKQLHNRRLL	WHGSRTTNFA	GILSQGLRIA	PPEAPVTGYM	FGKGIYFADM
910	920	930	940	950	960
VSKSANYCHT	SQGDPIGLIL	LGEVALGNMY	ELKHASHISK	LPKGKHSVKG	LGKTTPDPSA
970	980	990	1000	1010
NISLDGVDVP	LGTGISSGVN	DTSLLYNEYI	VYDIAQVNLK	YLLKLKFNFK	TSLW