AiPD: Autoinhibited Protein Database

P09884

Gene name	POLA1 (POLA)
Protein name	DNA polymerase alpha catalytic subunit
Names	DNA polymerase alpha catalytic subunit p180
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5422
EC number	2.7.7.7: Nucleotidyltransferases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

144-252 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

144-252 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

19 structures for P09884

Entry ID	Method	Resolution	Chain	Position	Source
1K0P	NMR	-	A	1347-1377	PDB
1K18	NMR	-	A	1347-1377	PDB
1N5G	NMR	-	A	1345-1382	PDB
4Q5V	X-ray	252 A	A/E	336-1257	PDB
4QCL	X-ray	220 A	A	336-1257	PDB
4Y97	X-ray	251 A	B/D/F/H	1265-1444	PDB
5EXR	X-ray	360 A	C/G	335-1462	PDB
5IUD	X-ray	330 A	A/D/G/J	338-1255	PDB
6AS7	X-ray	295 A	A	336-1257	PDB
7N2M	X-ray	290 A	A	336-1257	PDB
7OPL	EM	412 A	A	334-1462	PDB
7U5C	EM	460 A	C	335-1462	PDB
8B9D	EM	340 A	B	1-1462	PDB
8D0B	EM	343 A	F	324-1462	PDB
8D0K	EM	427 A	F	2-1462	PDB
8D96	EM	335 A	C	1-1462	PDB
8D9D	EM	359 A	C	1-1462	PDB
8QJ7	EM	307 A	A	1-1462	PDB
AF-P09884-F1	Predicted				AlphaFoldDB

678 variants for P09884

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_083194 RCV000791329 rs1569271378 CA412610249	79	I>S	X-linked intellectual disability, van Esch type VEODS; no effect on protein abundance; decreased DNA replication [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000791333 VAR_083195 CA412610471 rs1569271892	110	G>R	X-linked intellectual disability, van Esch type VEODS; decreased protein abundance; may alter splicing [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000626207 CA412526872 rs1555973963	132	N>D	X-linked reticulate pigmentary disorder [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs767564863 RCV003166833 CA10372783 RCV001317760	146	T>I	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA10372892 RCV002540101 RCV000891326 rs143377461	335	A>S	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA10372938 rs774419889 RCV000995840	397	D>N	X-linked intellectual disability, van Esch type [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001760424 RCV001328971 rs2045884809	1011	N>S	X-linked intellectual disability, van Esch type [ClinVar]	Yes	ClinVar dbSNP
RCV000714859 CA10373590 RCV002249436 rs41548013 RCV000894499	1202	D>H	X-linked reticulate pigmentary disorder [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM1119557 rs147068943 RCV002547019 CA10373659 RCV001344780	1336	R>H	endometrium Inborn genetic diseases [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA412609578 rs1569350993 RCV000791330 VAR_083196	1381	P>L	X-linked intellectual disability, van Esch type VEODS; no effect on protein abundance; decreased DNA replication [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA412609060 rs1431521698	3	P>A		No	ClinGen TOPMed gnomAD
CA10372685 rs772498262	3	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1318403999 CA412609074	5	H>R		No	ClinGen TOPMed
CA10372686 rs775792719	6	G>D		No	ClinGen ExAC gnomAD
rs760997065 CA412609090	7	D>E		No	ClinGen ExAC TOPMed gnomAD
CA412609083 rs1399675367	7	D>N		No	ClinGen TOPMed
CA412609091 rs1411954470	8	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA10372702 rs746408076	10	L>P		No	ClinGen ExAC gnomAD
CA10372701 rs778800377	10	L>V		No	ClinGen ExAC TOPMed gnomAD
CA327719418 rs898557252	12	D>A		No	ClinGen TOPMed
rs772497023 CA10372703	17	V>A		No	ClinGen ExAC gnomAD
CA10372704 rs775954150	19	S>F		No	ClinGen ExAC gnomAD
rs1224487661 COSM3844387 CA412609831	20	R>G	Variant assessed as Somatic; 0.0 impact. oesophagus breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA10372705 rs747434011	20	R>Q		No	ClinGen ExAC gnomAD
CA412609834 rs1487932196	21	A>T		No	ClinGen gnomAD
rs776272149 CA10372707	22	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs769005882 CA10372706	22	R>W		No	ClinGen ExAC gnomAD
TCGA novel	23	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10372708 rs761318896	23	R>G		No	ClinGen ExAC gnomAD
rs764829466 CA10372709	23	R>Q		No	ClinGen ExAC gnomAD
rs772554190 CA10372710	25	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1201409318 CA412609871	27	S>P		No	ClinGen gnomAD
CA412609889 CA412609890 rs1443107817	29	K>N		No	ClinGen gnomAD
CA412609894 rs1165873682	30	G>E		No	ClinGen gnomAD
CA10372711 rs138282947	31	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs371458274 CA10372713	31	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412609898 rs371458274	31	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10372712 rs138282947	31	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	36	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	36	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201128590 CA10372714	36	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs942871862 CA327719421	38	L>M		No	ClinGen Ensembl
CA327719422 rs866105881	40	K>R		No	ClinGen Ensembl
CA412609974 rs1382339749	43	A>T		No	ClinGen TOPMed gnomAD
rs41562912 CA327719423	47	Y>*		No	ClinGen Ensembl
TCGA novel	56	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10372723 rs200995449	56	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	59	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10372726 COSM756459 rs747452548	67	S>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA10372727 rs769024491	68	K>E		No	ClinGen ExAC TOPMed gnomAD
CA412610180 rs1317456378	70	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10372728 rs369800589	73	R>C		No	ClinGen ESP ExAC gnomAD
TCGA novel	73	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10372729 rs1031401008	74	Q>H		No	ClinGen TOPMed gnomAD
CA412610258 rs1569271382	81	D>N		No	ClinGen Ensembl
rs915362182 CA327719732	83	D>G		No	ClinGen TOPMed
rs755917028 CA10372740	84	G>D		No	ClinGen ExAC gnomAD
rs1460224920 CA412610331	89	E>D		No	ClinGen gnomAD
rs765435738 CA10372741	90	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA327719734 rs1020777451	91	G>V		No	ClinGen TOPMed gnomAD
CA412610359 rs1426979079	94	I>V		No	ClinGen TOPMed
TCGA novel	97	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10372744 rs780053515	97	D>N		No	ClinGen ExAC gnomAD
CA10372745 rs752087685	98	D>N		No	ClinGen ExAC TOPMed gnomAD
rs755442296 CA412610396	99	L>F		No	ClinGen ExAC gnomAD
CA10372746 rs755442296	99	L>V		No	ClinGen ExAC gnomAD
rs748506193 CA10372748	101	D>G		No	ClinGen ExAC gnomAD
TCGA novel	101	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000762613 rs1569271869 CA412610417	102	D>G		No	ClinGen ClinVar Ensembl dbSNP
rs777353124 CA10372750	102	D>Y		No	ClinGen ExAC gnomAD
rs748903534 CA10372751	105	D>H		No	ClinGen ExAC gnomAD
CA412610434 rs748903534	105	D>N		No	ClinGen ExAC gnomAD
rs1267432660 CA412610458	108	E>A		No	ClinGen gnomAD
CA10372764 rs781603224	111	K>R		No	ClinGen ExAC gnomAD
CA10372765 rs753240350	113	G>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	114	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	115	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10372766 rs141903278	115	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10372767 rs778140613	115	A>V		No	ClinGen ExAC gnomAD
CA326893511 rs376350416	116	R>C		No	ClinGen ESP TOPMed gnomAD
COSM1119526 rs748968830 CA10372768	116	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs376350416 CA412526596	116	R>S		No	ClinGen ESP TOPMed gnomAD
CA326893517 rs991049806	117	N>S		No	ClinGen TOPMed gnomAD
rs770667699 CA10372769	119	D>E		No	ClinGen ExAC
CA412526699 rs1297567087	121	R>K		No	ClinGen gnomAD
TCGA novel	121	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412526712 rs1428772912	122	N>K		No	ClinGen gnomAD
CA326893523 rs150650096	122	N>S		No	ClinGen ESP TOPMed gnomAD
rs1290816242 CA412526715	123	V>I		No	ClinGen TOPMed gnomAD
CA326893535 rs866037443	126	L>I		No	ClinGen Ensembl
rs1313362497 CA412526795	127	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA10372771 rs745429792	127	A>V		No	ClinGen ExAC gnomAD
CA10372773 rs775295060	128	V>A		No	ClinGen ExAC gnomAD
CA10372774 COSM1467328 rs760605087	131	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs768360956 CA326893559	132	N>K		No	ClinGen ExAC TOPMed gnomAD
rs776450064 CA10372779	133	N>I		No	ClinGen ExAC gnomAD
rs776450064 CA10372778	133	N>S		No	ClinGen ExAC gnomAD
rs1181443300 CA412526907	134	I>V		No	ClinGen gnomAD
CA412526959 rs1244733704	137	M>V		No	ClinGen gnomAD
rs766633748 CA10372780	143	G>R		No	ClinGen ExAC gnomAD
CA10372782 rs759676618	144	K>R		No	ClinGen ExAC gnomAD
TCGA novel	146	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1161378557 CA412527255	147	A>V		No	ClinGen gnomAD
CA10372784 rs753155937	148	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA412527529 rs373642183	153	L>F		No	ClinGen ESP TOPMed gnomAD
rs745448416 CA10372792	155	K>T		No	ClinGen ExAC gnomAD
CA326893817 rs199741223	158	L>V		No	ClinGen TOPMed
rs757861328 CA412527718	162	I>L		No	ClinGen ExAC gnomAD
CA10372793 rs757861328	162	I>V		No	ClinGen ExAC gnomAD
rs1461573135 CA412527785	165	D>G		No	ClinGen gnomAD
rs779569608 CA10372794	168	T>A		No	ClinGen ExAC gnomAD
TCGA novel	168	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746954680 CA10372795	169	E>V		No	ClinGen ExAC gnomAD
rs1270603957 CA412527984	171	P>H		No	ClinGen gnomAD
CA10372805 rs201649929	171	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412528003 rs1420357669	172	Q>R		No	ClinGen gnomAD
CA10372808 rs368651244	174	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA10372807 rs754392078	174	T>S		No	ClinGen ExAC gnomAD
rs985150885 CA326894154	176	P>L		No	ClinGen Ensembl
rs1480123077 CA412528078	176	P>S		No	ClinGen gnomAD
CA10372809 rs758865593	177	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA412528103 rs1391645317	178	V>I		No	ClinGen TOPMed
rs1349283841 CA412528121	179	M>L		No	ClinGen TOPMed
rs61756399 CA10372810	180	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10372811 rs758031360	181	L>M		No	ClinGen ExAC gnomAD
rs1167619280 CA412528185	182	K>R		No	ClinGen gnomAD
CA412528209 rs1394757166	183	K>R		No	ClinGen gnomAD
CA10372812 rs779545243	184	K>E		No	ClinGen ExAC TOPMed gnomAD
rs965062778 CA326894180	187	I>T		No	ClinGen TOPMed
rs140202293 CA10372814	191	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10372816 rs748009088	193	P>A		No	ClinGen ExAC gnomAD
CA412528379 rs748009088	193	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1345655973 CA412528421	195	S>F		No	ClinGen gnomAD
CA412528472 rs1268085435	198	T>A		No	ClinGen gnomAD
CA326894187 rs555763827	198	T>S		No	ClinGen Ensembl
CA10372819 rs200756660	200	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10372833 COSM1119532 rs376454156	202	V>F	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
TCGA novel	204	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1162810500 CA412528720	204	S>P		No	ClinGen TOPMed
rs1471761855 CA412528774	206	K>E		No	ClinGen TOPMed
rs976439902 CA326894274	210	P>L		No	ClinGen TOPMed
CA326894284 rs1025698168	212	S>P		No	ClinGen Ensembl
CA412529126 rs1569278805	217	P>L		No	ClinGen Ensembl
CA10372836 rs777656002	221	V>D		No	ClinGen ExAC TOPMed
CA10372837 rs749156240	222	P>A		No	ClinGen ExAC gnomAD
CA326894294 rs749156240	222	P>S		No	ClinGen ExAC gnomAD
rs750378412 CA10372838	225	R>C		No	ClinGen ExAC TOPMed gnomAD
rs758206506 CA10372839	225	R>H		No	ClinGen ExAC TOPMed gnomAD
rs747142912 CA10372840	229	A>S		No	ClinGen ExAC
TCGA novel	232	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412529626 rs1460219477	232	D>V		No	ClinGen gnomAD
rs1257391842 CA412529657	234	Q>E		No	ClinGen gnomAD
CA10372857 rs372776800	235	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs979012120 CA326894489	240	E>G		No	ClinGen TOPMed gnomAD
rs1365007275 CA412529930	247	M>I		No	ClinGen gnomAD
rs951091721 CA326894494	247	M>V		No	ClinGen Ensembl
CA10372858 rs765798973	249	F>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10372859 rs747289291	253	D>N		No	ClinGen ExAC gnomAD
rs375784471 CA10372860	254	F>L		No	ClinGen ESP ExAC gnomAD
CA326894499 rs969244582	257	P>L		No	ClinGen Ensembl
CA412530120 rs1470801875	258	M>V		No	ClinGen gnomAD
CA412530176 rs1422671096	261	E>K		No	ClinGen gnomAD
CA10372861 rs781546263	262	E>D		No	ClinGen ExAC TOPMed gnomAD
rs182025721 CA10372864	268	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1400416526 CA412530363	270	A>G		No	ClinGen gnomAD
CA326894530 rs927744747	272	A>P		No	ClinGen Ensembl
rs763306930 CA10372865	274	D>N		No	ClinGen ExAC gnomAD
rs1348718100 CA412530451	275	K>E		No	ClinGen TOPMed
rs1602272400 CA412530518	278	E>*		No	ClinGen Ensembl
rs1321674024 CA412530538	279	P>A		No	ClinGen gnomAD
CA412530549 rs1256940463	280	A>P		No	ClinGen gnomAD
CA412530563 rs1480539618	280	A>V		No	ClinGen gnomAD
rs1194553931 CA412530569	281	E>Q		No	ClinGen gnomAD
rs1448699391 CA412530573	281	E>V		No	ClinGen TOPMed
rs774536283 CA10372867	284	K>E		No	ClinGen ExAC gnomAD
rs1483069968 CA412530639	285	Q>R		No	ClinGen gnomAD
CA10372868 rs759860811	287	A>V		No	ClinGen ExAC TOPMed gnomAD
CA10372869 rs767204420	289	S>P		No	ClinGen ExAC gnomAD
CA326894572 rs988600566	294	V>M		No	ClinGen Ensembl
rs760244975 CA10372871	295	S>F		No	ClinGen ExAC gnomAD
rs750231031 CA10372876	299	S>N		No	ClinGen ExAC gnomAD
CA10372877 rs758251012	301	L>V		No	ClinGen ExAC gnomAD
CA10372878 rs781625739	302	P>L		No	ClinGen ExAC TOPMed gnomAD
rs756279236 CA10372880	303	D>N		No	ClinGen ExAC gnomAD
rs777668998 CA10372881	306	C>S		No	ClinGen ExAC gnomAD
CA10372883 rs148411107	308	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs774901309 CA10372884	309	I>V		No	ClinGen ExAC
rs142553261 CA10372885	310	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1426455234 CA412530876	311	Q>E		No	ClinGen TOPMed gnomAD
CA412530878 rs1426455234	311	Q>K		No	ClinGen TOPMed gnomAD
CA412530895 rs1390627876	313	G>D		No	ClinGen gnomAD
rs1378641402 CA412530901	314	D>A		No	ClinGen gnomAD
CA412530898 rs1423912856	314	D>N		No	ClinGen gnomAD
rs946702782 CA326894623	316	S>G		No	ClinGen Ensembl
rs150967644 CA10372887	320	Q>R		No	ClinGen ESP ExAC gnomAD
rs776042969 CA10372890	331	L>F		No	ClinGen ExAC TOPMed gnomAD
rs139566864 CA10372891	332	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA412531037 rs1290252965	334	G>R		No	ClinGen TOPMed gnomAD
rs1036486468 CA326894650	339	Q>E		No	ClinGen TOPMed
rs1221677180 CA412531078	339	Q>H		No	ClinGen gnomAD
rs1307324306 CA412531079	340	V>I		No	ClinGen TOPMed gnomAD
rs1259710423 CA412531095	342	H>Y		No	ClinGen gnomAD
rs750378852 CA10372893	346	L>V		No	ClinGen ExAC gnomAD
TCGA novel	347	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs146743254 CA10372894	348	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA326896717 rs61756361	364	K>R		No	ClinGen Ensembl
rs776330782 CA10372908	369	S>L		No	ClinGen ExAC TOPMed gnomAD
CA412531982 rs1355179614	373	H>P		No	ClinGen TOPMed
CA10372911 rs773291769	376	C>S		No	ClinGen ExAC gnomAD
rs1169973858 CA412532054	383	I>V		No	ClinGen TOPMed
rs766311613 CA10372913	384	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs751442544 CA10372914	385	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA326896796 rs944466441	386	T>M		No	ClinGen TOPMed gnomAD
CA10372915 rs759354857	387	L>V		No	ClinGen ExAC gnomAD
CA412532091 rs1469548656	389	F>I		No	ClinGen gnomAD
TCGA novel	390	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10372917 rs754086525	392	R>C		No	ClinGen ExAC gnomAD
rs915033662 CA326896828	392	R>H		No	ClinGen TOPMed
CA10372918 rs757289202	394	M>V		No	ClinGen ExAC gnomAD
rs368074893 CA10372939	400	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA412532180 rs368074893	400	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1215632101 CA412532199	403	E>G		No	ClinGen TOPMed
rs375241795 CA10372942	405	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs754021263 CA10372941	405	G>R		No	ClinGen ExAC
TCGA novel	406	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412532221 rs1602284038	407	P>S		No	ClinGen Ensembl
TCGA novel	408	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765413720 CA10372943	408	I>V		No	ClinGen ExAC gnomAD
CA412532259 rs1276294427	412	D>V		No	ClinGen TOPMed gnomAD
TCGA novel	414	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1345409725 CA412532331	422	A>T		No	ClinGen gnomAD
CA326897267 rs367843843	423	T>A		No	ClinGen ESP
rs750549799 CA10372944	424	K>I		No	ClinGen ExAC TOPMed gnomAD
CA10372945 rs758457482	426	K>Q		No	ClinGen ExAC gnomAD
CA412532371 rs780601815	428	M>L		No	ClinGen ExAC gnomAD
rs780601815 CA10372946	428	M>V		No	ClinGen ExAC gnomAD
TCGA novel	429	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10372958 rs774436181	440	A>G		No	ClinGen ExAC gnomAD
CA10372959 rs745760332	446	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1021318593 CA326897873	449	K>E		No	ClinGen Ensembl
TCGA novel	450	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760363128 CA10372963	454	E>K		No	ClinGen ExAC TOPMed gnomAD
CA10372962 rs760363128	454	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	458	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1190274117 CA412533537	465	P>L		No	ClinGen gnomAD
CA412533678 rs1469203351	474	S>F		No	ClinGen gnomAD
rs1327160211 CA412533783	481	T>I		No	ClinGen TOPMed
rs145623455 CA10372986	496	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1569283711 CA412534040	499	L>P		No	ClinGen Ensembl
CA10372987 rs763108905	500	E>D		No	ClinGen ExAC gnomAD
CA10372995 rs145173850	506	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs753567847 CA10372996	510	P>A		No	ClinGen ExAC gnomAD
rs1223280783 CA412534134	510	P>L		No	ClinGen gnomAD
CA412534141 rs1185627349	511	V>A		No	ClinGen TOPMed
rs757008969 CA10372997	519	M>V		No	ClinGen ExAC TOPMed gnomAD
rs968290175 CA326898499	520	A>V		No	ClinGen Ensembl
rs1375697274 CA412534213	521	L>W		No	ClinGen gnomAD
rs1040791460 CA326898503	523	P>S		No	ClinGen TOPMed
rs1467409482 CA412534248	527	N>H		No	ClinGen gnomAD
CA10372998 rs778407882	529	I>V		No	ClinGen ExAC TOPMed gnomAD
CA326898508 rs769347895	533	S>G		No	ClinGen TOPMed gnomAD
rs1347417064 CA412534293	533	S>T		No	ClinGen gnomAD
CA10373000 rs757840766	534	P>L		No	ClinGen ExAC TOPMed gnomAD
CA10372999 rs745439747	534	P>S		No	ClinGen ExAC gnomAD
rs192188948 CA10373002	539	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs192188948 CA10373001	539	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1569284172 CA412534330	540	M>V		No	ClinGen Ensembl
rs780922358 CA10373004	543	S>G		No	ClinGen ExAC gnomAD
CA412534359 rs1310769233	544	M>L		No	ClinGen gnomAD
rs1602290197 CA412534363	544	M>T		No	ClinGen Ensembl
rs1337712607 CA412534374	545	K>N		No	ClinGen TOPMed
rs1235896821 CA412534383	547	M>V		No	ClinGen TOPMed gnomAD
CA10373005 rs149149281	548	Q>R		No	ClinGen ESP ExAC gnomAD
TCGA novel	549	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1339288126 CA412534417	551	K>R		No	ClinGen gnomAD
CA412534432 rs1203716704	553	H>L		No	ClinGen gnomAD
rs1203716704 CA412534433	553	H>R		No	ClinGen gnomAD
rs1226807660 CA412534493	560	M>V		No	ClinGen gnomAD
CA412534504 rs1291087377	561	A>G		No	ClinGen TOPMed
CA326900050 rs935104632	561	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs779379478 CA10373018	562	A>G		No	ClinGen ExAC gnomAD
rs761784863 CA412534517	563	L>F		No	ClinGen 1000Genomes TOPMed gnomAD
rs1344203339 CA412534523	564	V>A		No	ClinGen TOPMed
rs1273703022 CA412534574	571	D>G		No	ClinGen TOPMed
TCGA novel	572	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10373021 rs781088284	574	A>V		No	ClinGen ExAC gnomAD
rs1191457613 CA412534598	575	P>A		No	ClinGen gnomAD
CA10373022 rs765477280	576	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs867533395 CA326900074	576	K>N		No	ClinGen TOPMed gnomAD
TCGA novel	580	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769474913 CA10373023	582	H>Q		No	ClinGen ExAC gnomAD
CA412534647 rs1190393160	582	H>R		No	ClinGen TOPMed gnomAD
CA326900076 rs1053533230	582	H>Y		No	ClinGen Ensembl
rs1463327219 CA412534707	589	P>R		No	ClinGen gnomAD
rs1273413005 CA412534705	589	P>S		No	ClinGen TOPMed
CA10373034 rs143288590	591	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs373842557 CA10373036	592	C>Y		No	ClinGen ESP ExAC gnomAD
rs1284730717 CA412534737	593	I>M		No	ClinGen TOPMed
CA10373037 rs750109875	594	F>C		No	ClinGen ExAC gnomAD
CA412534748 rs1165699664	595	P>Q		No	ClinGen TOPMed gnomAD
rs1425655424 CA412534747	595	P>S		No	ClinGen gnomAD
TCGA novel	599	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1602300819 CA412534789	601	V>I		No	ClinGen Ensembl
CA10373040 rs763758630	602	I>T		No	ClinGen 1000Genomes ExAC TOPMed
rs766019415 CA10373039	602	I>V		No	ClinGen ExAC TOPMed gnomAD
rs781176230 CA10373042	604	K>T		No	ClinGen ExAC gnomAD
rs1569288070 CA412534845	607	V>M		No	ClinGen Ensembl
TCGA novel	610	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1235264526 CA412534873	611	V>F		No	ClinGen TOPMed
CA412534871 rs1235264526	611	V>I		No	ClinGen TOPMed
CA412534986 rs1287444237	628	K>R		No	ClinGen TOPMed
CA10373071 rs755128571	634	I>V		No	ClinGen ExAC gnomAD
CA10373089 rs753740777	636	G>S		No	ClinGen ExAC gnomAD
rs757130960 CA10373090	640	Y>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	643	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10373091 rs148326076	647	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1168655904 CA412535168	653	V>A		No	ClinGen gnomAD
CA10373093 rs200384693	653	V>M		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	655	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781540256 CA10373094	655	K>R		No	ClinGen ExAC TOPMed gnomAD
CA412535255 rs1350216326	666	K>R		No	ClinGen gnomAD
CA10373096 rs756216405	667	R>Q		No	ClinGen ExAC gnomAD
CA412535283 rs1287902419	670	M>I		No	ClinGen TOPMed
rs749750264 CA10373098	674	G>R		No	ClinGen ExAC TOPMed gnomAD
CA326902629 rs749750264	674	G>W		No	ClinGen ExAC TOPMed gnomAD
rs1456435596 CA412535327	675	G>V		No	ClinGen TOPMed gnomAD
CA326903741 rs910915814	676	R>Q		No	ClinGen TOPMed
rs776455267 CA10373107	676	R>W		No	ClinGen ExAC gnomAD
rs1390612761 CA412535354	680	G>R		No	ClinGen gnomAD
CA326903743 rs1039245798	682	R>G		No	ClinGen Ensembl
rs766562139 CA10373108	689	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412535424 rs1302937269	690	I>T		No	ClinGen TOPMed
CA412535443 rs1569290125	693	V>M		No	ClinGen Ensembl
TCGA novel	694	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	695	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	698	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10373111 rs762824656	702	R>H		No	ClinGen ExAC gnomAD
CA412535514 rs1390705276	703	C>Y		No	ClinGen TOPMed
rs751837683 CA10373112	707	H>N		No	ClinGen 1000Genomes ExAC gnomAD
CA10373113 rs752900734	707	H>R		No	ClinGen ExAC gnomAD
CA412535630 rs1380307134	715	I>V		No	ClinGen TOPMed gnomAD
rs754374271 CA10373116	717	K>E		No	ClinGen ExAC
TCGA novel	718	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10373117 rs757801036	719	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1440141310 CA412535698	721	V>I		No	ClinGen gnomAD
CA10373118 rs779372671	723	I>V		No	ClinGen ExAC gnomAD
rs199701006 CA10373120	725	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779584272 CA10373121	727	N>D		No	ClinGen ExAC gnomAD
CA412535794 rs1413842775	728	I>M		No	ClinGen TOPMed gnomAD
CA412535791 rs1424622621	728	I>T		No	ClinGen gnomAD
CA10373122 rs184477391	732	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	733	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412535981 rs1179521519	734	E>D		No	ClinGen gnomAD
rs2230927 VAR_048877 CA10373132	740	Y>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs757317865 CA10373135	745	T>I		No	ClinGen ExAC TOPMed gnomAD
CA326904993 rs867539089	746	W>*		No	ClinGen Ensembl
CA326904995 rs556661977	747	K>E		No	ClinGen Ensembl
rs1382071173 CA412536102	750	K>E		No	ClinGen gnomAD
rs2230928 CA10373136	750	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1250719603 CA412536123	753	L>V		No	ClinGen TOPMed
rs1306350284 CA412536137	755	I>L		No	ClinGen gnomAD
rs750870047 CA10373137	755	I>M		No	ClinGen ExAC gnomAD
TCGA novel	756	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412536143 rs1392256709	756	M>L		No	ClinGen TOPMed gnomAD
CA10373138 rs758711488	756	M>T		No	ClinGen ExAC TOPMed gnomAD
CA412536144 rs1392256709	756	M>V		No	ClinGen TOPMed gnomAD
rs780425312 CA10373139	757	C>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	761	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10373141 rs754704996	763	P>S		No	ClinGen ExAC gnomAD
TCGA novel	765	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1480751978 CA412536257	772	A>V		No	ClinGen gnomAD
CA10373146 rs749192152	775	I>T		No	ClinGen ExAC gnomAD
rs367639262 CA10373157	777	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA412536347 rs1307618098	784	R>Q		No	ClinGen TOPMed gnomAD
rs866074410 CA326905310	786	E>D		No	ClinGen Ensembl
CA412536358 rs1263341513	786	E>G		No	ClinGen gnomAD
rs755291632 CA10373160	787	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10373161 rs780992739	790	F>L		No	ClinGen ExAC gnomAD
CA10373162 rs747748000	791	L>V		No	ClinGen ExAC gnomAD
TCGA novel	794	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777382328 CA10373164	796	F>C		No	ClinGen ExAC gnomAD
rs745745566 CA10373168	804	P>R		No	ClinGen ExAC TOPMed gnomAD
rs774142651 CA10373167 COSM1625794	804	P>S	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA412536503 rs1388415952	807	Q>E		No	ClinGen TOPMed gnomAD
CA10373169 rs771699033	813	Q>P		No	ClinGen ExAC gnomAD
rs935223354 CA326905371	814	Q>K		No	ClinGen Ensembl
CA10373170 rs776859599	815	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1391404521 CA412536960	817	G>A		No	ClinGen TOPMed
CA10373226 rs139024287	818	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	819	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1409230126 CA412537006	820	D>G		No	ClinGen gnomAD
CA412536998 rs1179316942	820	D>N		No	ClinGen gnomAD
rs1429684043 CA412537070	824	D>E		No	ClinGen TOPMed
CA412537096 rs1414383808	826	D>V		No	ClinGen gnomAD
TCGA novel	826	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412537128 rs1174606823	828	N>S		No	ClinGen gnomAD
CA10373227 rs761127311	829	K>N		No	ClinGen ExAC gnomAD
CA10373228 rs751928172	831	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs776375253 CA10373229	833	G>E		No	ClinGen ExAC TOPMed gnomAD
CA10373230 rs761411041	834	R>C		No	ClinGen ExAC gnomAD
CA412537221 rs1444009042	834	R>H		No	ClinGen TOPMed gnomAD
CA10373231 rs755449604	836	K>T		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	842	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10373233 rs757894926	848	K>E		No	ClinGen ExAC gnomAD
CA412537613 rs1569293391	851	F>L		No	ClinGen Ensembl
rs759076386 CA10373271	869	I>V		No	ClinGen ExAC TOPMed gnomAD
CA412537960 rs1189656791	874	I>V		No	ClinGen gnomAD
TCGA novel	877	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1418257140 CA412538035 CA412538033	879	V>L		No	ClinGen TOPMed gnomAD
rs1456512759 CA412538055	880	Q>R		No	ClinGen gnomAD
rs767424640 CA412538136	886	A>P		No	ClinGen ExAC TOPMed gnomAD
CA10373272 rs767424640	886	A>S		No	ClinGen ExAC TOPMed gnomAD
CA326907563 rs767424640	886	A>T		No	ClinGen ExAC TOPMed gnomAD
CA10373273 rs752614463	886	A>V		No	ClinGen ExAC gnomAD
CA10373274 rs760401740	887	Q>H		No	ClinGen ExAC gnomAD
rs1289814099 CA412538166	888	K>E		No	ClinGen TOPMed
CA412538206 rs1227042363	891	E>K		No	ClinGen TOPMed
rs1470460270	892	D>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs770084042 CA10373286	892	D>N		No	ClinGen ExAC gnomAD
rs753250305 CA10373287	892	D>V		No	ClinGen ExAC gnomAD
CA412538955 rs1171945349	893	G>E		No	ClinGen gnomAD
TCGA novel	894	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1602327575 CA412538972	895	Q>H		No	ClinGen Ensembl
rs749632404 CA10373288	904	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	904	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs962083293 CA326922754	905	S>C		No	ClinGen TOPMed
CA326922756 rs973409997	906	L>S		No	ClinGen TOPMed
CA412539065 CA412539064 rs1432944114	908	M>I		No	ClinGen TOPMed gnomAD
rs1314932551 CA412539077	910	I>T		No	ClinGen gnomAD
rs1376276704 CA412539093	913	R>G		No	ClinGen gnomAD
CA10373289 rs770629363	913	R>I		No	ClinGen ExAC TOPMed gnomAD
CA10373290 rs773988452	915	I>V		No	ClinGen ExAC gnomAD
COSM756449 CA10373292 rs771556456	916	R>Q	lung Variant assessed as Somatic; 0.0 impact. central_nervous_system [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs149469482 CA10373291	916	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA326922785 rs1002397704	919	V>I		No	ClinGen TOPMed
rs760623581 CA10373294	920	E>Q		No	ClinGen ExAC
TCGA novel	922	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA326922822 rs1035175247	927	Q>H		No	ClinGen TOPMed gnomAD
CA10373295 rs764098835	927	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	929	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA326922826 rs755655222	933	D>A		No	ClinGen Ensembl
CA412539233 rs1280510348	933	D>E		No	ClinGen gnomAD
rs1303479892 CA412539310	943	D>N		No	ClinGen gnomAD
TCGA novel	946	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA326922955 rs757592941	951	L>F		No	ClinGen Ensembl
rs778554454 CA10373309	954	N>S		No	ClinGen ExAC gnomAD
CA412539404 rs1347097781	956	M>I		No	ClinGen TOPMed
rs202169782 CA326922968	956	M>L		No	ClinGen gnomAD
rs745479483 CA10373310	963	S>F		No	ClinGen ExAC gnomAD
CA326922977 rs1015404522	974	A>V		No	ClinGen TOPMed
CA412539551 rs1602328826	978	Y>C		No	ClinGen Ensembl
rs1380152573 CA412524313	989	E>D		No	ClinGen TOPMed
CA326911368 rs1007125974	992	Q>E		No	ClinGen gnomAD
rs1222248038 CA412524408	994	M>V		No	ClinGen gnomAD
TCGA novel	1001	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412524629 rs1260198302	1009	N>K		No	ClinGen gnomAD
CA10373470 rs772782830	1009	N>S		No	ClinGen ExAC gnomAD
TCGA novel	1010	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10373473 rs774187776	1012	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1209486578 CA412524742	1017	E>D		No	ClinGen TOPMed gnomAD
CA412524761 rs1416214159	1019	F>Y		No	ClinGen gnomAD
rs759559043 CA10373474	1020	K>R		No	ClinGen ExAC TOPMed gnomAD
CA326911803 rs368483249	1021	L>F		No	ClinGen ESP TOPMed gnomAD
rs1166144129 CA412524789	1021	L>S		No	ClinGen gnomAD
TCGA novel	1027	S>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA326912577 rs78040616	1027	S>R		No	ClinGen Ensembl
CA326912578 rs148640944	1035	L>R		No	ClinGen ESP TOPMed gnomAD
CA412525276 rs1484443241	1041	D>E		No	ClinGen gnomAD
CA10373484 rs763995125	1043	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412525300 rs1223286440	1045	K>R		No	ClinGen TOPMed
rs1159898227	1054	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs367896351 CA10373488	1054	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1057	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10373490 rs748900161	1057	A>V		No	ClinGen ExAC gnomAD
rs182314888 CA10373491	1059	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs773963015 CA10373492	1063	T>M		No	ClinGen ExAC gnomAD
CA412525420 rs1448974914	1064	S>L		No	ClinGen gnomAD
rs772116674 CA10373494	1068	Y>C		No	ClinGen ExAC gnomAD
rs992832814 CA326912617	1070	T>A		No	ClinGen Ensembl
rs775505997 CA10373495	1070	T>N		No	ClinGen ExAC gnomAD
CA412525472 rs1450841618	1072	Q>R		No	ClinGen gnomAD
CA412525479 rs1406755455	1073	E>A		No	ClinGen TOPMed
TCGA novel	1076	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412525590 rs1211255184	1088	A>V		No	ClinGen gnomAD
TCGA novel	1092	G>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10373497 rs757079419	1093	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775593921 CA10373531	1095	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1478685984 CA412525654	1096	I>F		No	ClinGen gnomAD
rs1601760092 CA412525661	1097	G>C		No	ClinGen Ensembl
rs913112052 CA326913531	1100	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs949731481 CA326913536	1101	S>F		No	ClinGen TOPMed gnomAD
rs949731481 CA412525688	1101	S>Y		No	ClinGen TOPMed gnomAD
CA412525695 rs1569323078	1102	D>V		No	ClinGen Ensembl
rs1601760152 CA412525700	1103	Q>*		No	ClinGen Ensembl
CA10373533 rs768688546	1104	S>C		No	ClinGen ExAC gnomAD
rs1332487188 CA412525717	1105	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA412525714 rs1321644880	1105	R>W		No	ClinGen TOPMed gnomAD
CA10373534 rs776623391	1106	D>G		No	ClinGen ExAC gnomAD
rs761505212 CA412525729	1107	T>I		No	ClinGen ExAC gnomAD
rs761505212 CA10373535	1107	T>S		No	ClinGen ExAC gnomAD
rs1402070371 CA412525733	1108	I>T		No	ClinGen TOPMed
CA10373536 rs754611241	1108	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs774377505 CA10373537	1109	V>E		No	ClinGen ExAC gnomAD
CA412525736 rs1338795070	1109	V>M		No	ClinGen gnomAD
rs759683770 CA10373538	1110	E>K		No	ClinGen ExAC gnomAD
CA326913615 rs952721913	1115	R>K		No	ClinGen TOPMed
CA412525783 rs1334744870	1115	R>S		No	ClinGen TOPMed gnomAD
rs752743825 CA10373540	1118	E>Q		No	ClinGen ExAC gnomAD
rs764572759 CA412525834	1123	V>L		No	ClinGen ExAC gnomAD
rs764572759 CA10373542	1123	V>M		No	ClinGen ExAC gnomAD
rs1046131751 CA326913644	1127	S>G		No	ClinGen Ensembl
TCGA novel	1128	V>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1194075009 CA412525876	1130	V>M		No	ClinGen gnomAD
rs1471740978 CA412525901	1133	F>Y		No	ClinGen gnomAD
CA326913655 rs867570309	1136	N>K		No	ClinGen Ensembl
rs1054932634 CA326916201	1138	A>V		No	ClinGen TOPMed gnomAD
rs1189429328 CA412527064	1140	T>I		No	ClinGen gnomAD
CA10373555 rs774664184	1144	Q>H		No	ClinGen ExAC gnomAD
rs759718850 CA10373556	1145	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA10373558 rs775606583	1147	P>A		No	ClinGen ExAC gnomAD
rs760741374 CA10373559	1147	P>R		No	ClinGen ExAC
rs775606583 CA412527174	1147	P>T		No	ClinGen ExAC gnomAD
CA412527199 rs1378567931	1148	D>V		No	ClinGen gnomAD
TCGA novel	1149	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1151	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1151	S>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369599709 CA10373561	1151	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs200688540 CA10373562	1152	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1285327717 CA412527274	1153	P>R		No	ClinGen gnomAD
rs1219874960 CA412527265	1153	P>T		No	ClinGen gnomAD
CA326916269 rs375300732	1154	H>P		No	ClinGen ESP
rs758179290 CA10373565	1155	V>I		No	ClinGen ExAC TOPMed gnomAD
CA10373566 rs779845558	1159	L>I		No	ClinGen ExAC
CA10373567 rs751115601	1160	W>R		No	ClinGen ExAC TOPMed gnomAD
CA412527393 rs1378515486	1162	N>Y		No	ClinGen gnomAD
CA10373568 rs754477977	1165	G>E		No	ClinGen ExAC
rs756046214 CA10373571	1168	K>N		No	ClinGen ExAC
CA10373573 rs749096801	1169	V>G		No	ClinGen ExAC
rs1601769663 CA412527611	1174	T>A		No	ClinGen Ensembl
rs763339928 CA10373583	1182	D>N		No	ClinGen ExAC gnomAD
CA412528492 rs1338507216	1183	G>E		No	ClinGen gnomAD
CA10373584 rs766140989	1187	T>P		No	ClinGen ExAC gnomAD
CA412528641 rs1458214300	1194	A>T		No	ClinGen gnomAD
rs754565750 CA10373586	1194	A>V		No	ClinGen ExAC gnomAD
CA412528676 rs1431609517	1196	E>Q		No	ClinGen gnomAD
rs752230312 CA10373588	1197	Q>R		No	ClinGen ExAC gnomAD
rs113522473 CA326918187	1201	Q>H		No	ClinGen Ensembl
CA326918178 rs1022204937	1201	Q>R		No	ClinGen TOPMed
rs749087297 CA10373591	1202	D>G		No	ClinGen ExAC gnomAD
rs1009407075 CA326918190	1203	N>Y		No	ClinGen Ensembl
CA412528852 rs1466646712	1205	T>N		No	ClinGen gnomAD
CA10373593 rs780280477	1206	I>T		No	ClinGen ExAC gnomAD
TCGA novel	1207	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412528903 rs1390264046	1208	T>I		No	ClinGen TOPMed
rs1325545516 CA412528923	1209	Q>H		No	ClinGen gnomAD
CA326918234 rs1040858124	1213	A>T		No	ClinGen TOPMed
TCGA novel	1217	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs896980879 CA326918240	1217	H>Y		No	ClinGen TOPMed
CA10373594 rs747196873	1220	V>M		No	ClinGen ExAC TOPMed gnomAD
CA10373596 rs776628670	1227	I>T		No	ClinGen ExAC gnomAD
rs770204711 CA10373598	1229	G>E		No	ClinGen ExAC gnomAD
rs773707779 CA10373599	1230	I>T		No	ClinGen ExAC gnomAD
rs1268302049 CA412529322	1231	D>H		No	ClinGen gnomAD
CA412529324 rs1268302049	1231	D>N		No	ClinGen gnomAD
TCGA novel	1232	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412529373 rs1488109160	1233	V>A		No	ClinGen gnomAD
CA412529385 rs1426260753	1234	L>F		No	ClinGen gnomAD
rs1478411043 CA412529392	1234	L>P		No	ClinGen gnomAD
rs762859477 CA10373601	1235	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs375778112 CA10373602	1237	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA10373603 rs759425597	1237	T>M		No	ClinGen ExAC TOPMed gnomAD
CA412529462 rs1359470973	1238	W>C		No	ClinGen gnomAD
CA412529492 rs1397809303	1240	G>R		No	ClinGen gnomAD
CA412607906 rs1417439992	1241	L>F		No	ClinGen TOPMed gnomAD
CA10373613 rs140910158	1243	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1465348511 CA412607924	1244	T>A		No	ClinGen gnomAD
rs781405938 CA10373614	1251	Y>H		No	ClinGen ExAC gnomAD
CA10373615 rs748187483	1255	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1371689703 CA412608005	1255	E>K		No	ClinGen TOPMed
CA412608013 rs1396558602	1256	E>Q		No	ClinGen gnomAD
CA10373616 rs769861812	1257	N>D		No	ClinGen ExAC gnomAD
rs1449441369 CA412608031	1258	D>G		No	ClinGen TOPMed
CA412608047 rs1376258540	1261	L>V		No	ClinGen gnomAD
rs749851721 CA10373618	1262	G>A		No	ClinGen ExAC gnomAD
COSM1292984 rs778454003 CA10373617	1262	G>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	1263	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412608064 rs1317812981	1264	P>S		No	ClinGen gnomAD
rs771542485 CA10373619	1265	A>P		No	ClinGen ExAC gnomAD
rs759941084 CA10373621	1269	D>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1271	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10373623 rs775152736	1274	R>G		No	ClinGen ExAC gnomAD
rs760127959 CA10373624	1275	D>G		No	ClinGen ExAC gnomAD
COSM1119555 CA412608163 rs1374472829	1278	R>I	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA10373625 rs763623198	1279	F>L		No	ClinGen ExAC gnomAD
rs1159456208 CA412608174	1279	F>L		No	ClinGen TOPMed
rs575609660 CA327720084	1280	K>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs575609660 CA10373626	1280	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412608186 rs1173636395	1281	C>Y		No	ClinGen gnomAD
rs1466425058 CA412608255	1291	I>T		No	ClinGen TOPMed gnomAD
CA412608279 rs1601793400	1294	N>T		No	ClinGen Ensembl
rs56090108 CA10373629	1295	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10373632 rs752921429	1298	G>D		No	ClinGen ExAC gnomAD
CA10373631 rs781289140	1298	G>S		No	ClinGen ExAC TOPMed gnomAD
CA10373633 rs756257603	1299	S>L		No	ClinGen ExAC TOPMed
rs1314289474 CA412608325	1300	G>R		No	ClinGen TOPMed
CA327720199 rs201607896	1309	R>C		No	ClinGen TOPMed gnomAD
CA412608392 rs1472724099	1309	R>H		No	ClinGen gnomAD
rs1358302851 CA412608404	1311	S>G		No	ClinGen TOPMed
CA10373651 rs764407457	1313	I>T		No	ClinGen ExAC TOPMed gnomAD
CA10373650 rs756416451	1313	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA412608495 rs1192633963	1324	V>A		No	ClinGen TOPMed gnomAD
rs1192633963 CA412608494	1324	V>E		No	ClinGen TOPMed gnomAD
CA412608492 rs1490421877	1324	V>L		No	ClinGen gnomAD
CA10373655 rs200968329	1327	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758803326 CA10373656	1328	N>S		No	ClinGen ExAC TOPMed gnomAD
CA327720200 rs866087931	1332	M>I		No	ClinGen TOPMed
rs1449083592 CA412608547	1332	M>V		No	ClinGen gnomAD
TCGA novel	1333	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10373658 rs747326641	1336	R>C		No	ClinGen ExAC gnomAD
TCGA novel	1340	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10373660 rs776204639	1341	Y>C		No	ClinGen ExAC gnomAD
CA412608629 rs1601795539	1343	D>V		No	ClinGen Ensembl
TCGA novel	1344	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10373673 rs759006513	1354	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10373674 COSM1467331 rs780353506	1354	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA10373676 rs747410080	1355	N>I		No	ClinGen ExAC TOPMed gnomAD
CA10373675 rs747410080	1355	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1358	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1382895966 CA412609277	1359	H>R		No	ClinGen TOPMed gnomAD
CA412609372 rs769412757	1366	R>P		No	ClinGen ExAC gnomAD
CA10373679 rs769412757	1366	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA412609382 rs1205471387	1367	T>N		No	ClinGen gnomAD
rs1440580279 CA412609441	1372	P>S		No	ClinGen gnomAD
CA412609488 rs1212154524	1375	M>R		No	ClinGen gnomAD
rs967389495 CA327723372	1377	A>T		No	ClinGen TOPMed
rs1244981037 CA412609537	1378	T>I		No	ClinGen gnomAD
rs1445302530 CA412609541	1379	L>V		No	ClinGen gnomAD
CA412608671 rs1430572246	1385	D>E		No	ClinGen gnomAD
rs1421733162 CA412608685	1387	S>F		No	ClinGen gnomAD
CA412608682 rs1465606594	1387	S>T		No	ClinGen gnomAD
rs1391549421 CA412608700	1390	T>A		No	ClinGen gnomAD
rs375609607 CA10373705	1396	R>Q		No	ClinGen ExAC gnomAD
CA10373704 rs775436229	1396	R>W		No	ClinGen ExAC gnomAD
CA412608781 rs1453680052	1401	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs931788610 CA327726598	1404	A>T		No	ClinGen Ensembl
rs370763508 CA10373709	1408	L>R		No	ClinGen ExAC gnomAD
rs1341582520 CA412608834	1409	T>N		No	ClinGen gnomAD
CA412608847 rs1250149976	1411	D>E		No	ClinGen TOPMed
rs1436149863 CA412608845	1411	D>G		No	ClinGen TOPMed
CA327726600 rs771537551	1411	D>N		No	ClinGen gnomAD
CA412608842 rs771537551	1411	D>Y		No	ClinGen gnomAD
rs768071181 CA10373734	1416	K>I		No	ClinGen ExAC gnomAD
TCGA novel	1416	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775953989 CA10373735	1418	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1422	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1197299854 CA412609377	1423	T>I		No	ClinGen Ensembl
rs1163841128 CA412609391	1424	P>H		No	ClinGen TOPMed gnomAD
CA327731691 rs1041675690	1426	V>I		No	ClinGen TOPMed
rs1376708865 CA412609462	1429	D>E		No	ClinGen TOPMed
CA412609456 rs1229620410	1429	D>G		No	ClinGen TOPMed
rs1417630768 CA412609466	1430	Y>H		No	ClinGen gnomAD
rs1290460528 CA412609494	1432	K>E		No	ClinGen gnomAD
rs1395408775 CA412609579	1438	E>A		No	ClinGen gnomAD
rs1395408775 CA412609580	1438	E>G		No	ClinGen gnomAD
CA412609628 COSM457300 rs1431419400	1443	R>*	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA10373739 rs756870428	1443	R>Q		No	ClinGen ExAC gnomAD
rs1220049286 CA412609634	1444	S>N		No	ClinGen gnomAD
rs764912556 CA10373740	1445	G>S		No	ClinGen ExAC TOPMed gnomAD
CA412609654 rs1434457871	1447	S>A		No	ClinGen TOPMed
rs1262888617 CA412609660	1448	E>K		No	ClinGen gnomAD
TCGA novel	1451	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA327731694 rs200953586	1456	A>T		No	ClinGen TOPMed gnomAD
CA10373745 rs754897458	1456	A>V		No	ClinGen ExAC TOPMed gnomAD
rs780864335 CA10373746	1457	G>D		No	ClinGen ExAC TOPMed gnomAD
rs771126540 CA10373748	1458	C>R		No	ClinGen ExAC gnomAD
CA327731695 rs867914521	1459	A>V		No	ClinGen Ensembl
rs1261396362 CA412609740	1460	V>G		No	ClinGen gnomAD
rs775506451 CA10373752	1460	V>M		No	ClinGen ExAC gnomAD

2 associated diseases with P09884

[MIM: 301220]: Pigmentary disorder, reticulate, with systemic manifestations, X-linked (PDR)

An X-linked recessive disorder characterized by recurrent infections and sterile inflammation in various organs. Diffuse skin hyperpigmentation with a distinctive reticulate pattern is universally evident by early childhood. This is later followed in many patients by hypohidrosis, corneal inflammation and scarring, enterocolitis that resembles inflammatory bowel disease, and recurrent urethral strictures. Melanin and amyloid deposition is present in the dermis. Affected males also have a characteristic facies with frontally upswept hair and flared eyebrows. Female carriers have only restricted pigmentary changes along Blaschko's lines. {ECO:0000269|PubMed:27019227}. Note=The disease is caused by variants affecting the gene represented in this entry. XLPDR is caused by a recurrent intronic mutation that results in missplicing and reduced POLA1 expression. This leads to a decrease in cytosolic RNA:DNA hybrids and constitutive activation of type I interferon responses, but has no effect on cell replication. {ECO:0000269|PubMed:27019227}.

[MIM: 301030]: Van Esch-O'Driscoll syndrome (VEODS)

An X-linked recessive syndrome characterized by different degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations. {ECO:0000269|PubMed:31006512}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An X-linked recessive disorder characterized by recurrent infections and sterile inflammation in various organs. Diffuse skin hyperpigmentation with a distinctive reticulate pattern is universally evident by early childhood. This is later followed in many patients by hypohidrosis, corneal inflammation and scarring, enterocolitis that resembles inflammatory bowel disease, and recurrent urethral strictures. Melanin and amyloid deposition is present in the dermis. Affected males also have a characteristic facies with frontally upswept hair and flared eyebrows. Female carriers have only restricted pigmentary changes along Blaschko's lines. {ECO:0000269|PubMed:27019227}. Note=The disease is caused by variants affecting the gene represented in this entry. XLPDR is caused by a recurrent intronic mutation that results in missplicing and reduced POLA1 expression. This leads to a decrease in cytosolic RNA:DNA hybrids and constitutive activation of type I interferon responses, but has no effect on cell replication. {ECO:0000269|PubMed:27019227}.
An X-linked recessive syndrome characterized by different degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations. {ECO:0000269|PubMed:31006512}. Note=The disease is caused by variants affecting the gene represented in this entry.

6 regional properties for P09884

Type	Name	Position	InterPro Accession
domain	DNA-directed DNA polymerase, family B, exonuclease domain	371 - 710	IPR006133
domain	DNA-directed DNA polymerase, family B, multifunctional domain	775 - 1227	IPR006134
domain	Zinc finger, DNA-directed DNA polymerase, family B, alpha	1266 - 1455	IPR015088
conserved_site	DNA-directed DNA polymerase, family B, conserved site	1000 - 1008	IPR017964
domain	DNA polymerase alpha catalytic subunit, N-terminal domain	35 - 96	IPR024647
domain	DNA polymerase alpha catalytic subunit, catalytic domain	832 - 1242	IPR045846

Functions

		Description
EC Number	2.7.7.7	Nucleotidyltransferases
Subcellular Localization	Nucleus Cytoplasm, cytosol	In the cytosol, colocalizes with RNA:DNA hybrids with a speckled pattern
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
alpha DNA polymerase:primase complex	A complex of four polypeptides, comprising large and small DNA polymerase alpha subunits and two primase subunits, which are capable of catalyzing the synthesis of an RNA primer on the lagging strand of replicating DNA and the subsequent synthesis of a smal stretch of DNA. The smaller of the two primase subunits alone can catalyze oligoribonucleotide synthesis.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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 matrix	The dense fibrillar network lying on the inner side of the nuclear membrane.
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.

10 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.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
DNA replication origin binding	Binding to a DNA replication origin, a unique DNA sequence of a replicon at which DNA replication is initiated and proceeds bidirectionally or unidirectionally.
DNA-directed DNA polymerase activity	Catalysis of the reaction: deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1); the synthesis of DNA from deoxyribonucleotide triphosphates in the presence of a DNA template and a 3'hydroxyl group.
nucleotide binding	Binding to a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose.
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.
purine nucleotide binding	Binding to a purine nucleotide, a compound consisting of a purine nucleoside esterified with (ortho)phosphate.
pyrimidine nucleotide binding	Binding to a pyrimidine nucleotide, a pyrimidine nucleoside esterified with (ortho)phosphate.
single-stranded DNA binding	Binding to single-stranded DNA.
zinc ion binding	Binding to a zinc ion (Zn).

11 GO annotations of biological process

Name	Definition
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.
DNA replication	The cellular metabolic process in which a cell duplicates one or more molecules of DNA. DNA replication begins when specific sequences, known as origins of replication, are recognized and bound by initiation proteins, and ends when the original DNA molecule has been completely duplicated and the copies topologically separated. The unit of replication usually corresponds to the genome of the cell, an organelle, or a virus. The template for replication can either be an existing DNA molecule or RNA.
DNA replication initiation	The process in which DNA-dependent DNA replication is started; this begins with the ATP dependent loading of an initiator complex onto the DNA, this is followed by DNA melting and helicase activity. In bacteria, the gene products that enable the helicase activity are loaded after the initial melting and in archaea and eukaryotes, the gene products that enable the helicase activity are inactive when they are loaded and subsequently activate.
DNA replication, synthesis of RNA primer	The synthesis of a short RNA polymer, usually 4-15 nucleotides long, using one strand of unwound DNA as a template; the RNA then serves as a primer from which DNA polymerases extend synthesis.
DNA strand elongation involved in DNA replication	The process in which an existing DNA strand is extended by activities including the addition of nucleotides to the 3' end of the strand, complementary to an existing template, as part of DNA replication.
DNA synthesis involved in DNA repair	Synthesis of DNA that proceeds from the broken 3' single-strand DNA end and uses the homologous intact duplex as the template.
double-strand break repair via nonhomologous end joining	The repair of a double-strand break in DNA in which the two broken ends are rejoined with little or no sequence complementarity. Information at the DNA ends may be lost due to the modification of broken DNA ends. This term covers instances of separate pathways, called classical (or canonical) and alternative nonhomologous end joining (C-NHEJ and A-NHEJ). These in turn may further branch into sub-pathways, but evidence is still unclear.
lagging strand elongation	The process in which an existing DNA strand is extended in a net 3' to 5' direction by activities including the addition of nucleotides to the 3' end of the strand, complementary to an existing template, as part of DNA replication. Lagging strand DNA elongation proceeds by discontinuous synthesis of short stretches of DNA, known as Okazaki fragments, from RNA primers; these fragments are then joined by DNA ligase. Although each segment of nascent DNA is synthesized in the 5' to 3' direction, the overall direction of lagging strand synthesis is 3' to 5', mirroring the progress of the replication fork.
leading strand elongation	The process in which an existing DNA strand is extended continuously in a 5' to 3' direction by activities including the addition of nucleotides to the 3' end of the strand, complementary to an existing template, as part of DNA replication. Leading strand elongation proceeds in the same direction as the replication fork.
mitotic DNA replication initiation	Any DNA replication initiation involved in mitotic cell cycle DNA replication.
regulation of type I interferon production	Any process that modulates the frequency, rate, or extent of interferon type I production. Type I interferons include the interferon-alpha, beta, delta, episilon, zeta, kappa, tau, and omega gene families.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P33609	Pola1	DNA polymerase alpha catalytic subunit	Mus musculus (Mouse)	PR
O89042	Pola1	DNA polymerase alpha catalytic subunit	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MAPVHGDDSL	SDSGSFVSSR	ARREKKSKKG	RQEALERLKK	AKAGEKYKYE	VEDFTGVYEE
70	80	90	100	110	120
VDEEQYSKLV	QARQDDDWIV	DDDGIGYVED	GREIFDDDLE	DDALDADEKG	KDGKARNKDK
130	140	150	160	170	180
RNVKKLAVTK	PNNIKSMFIA	CAGKKTADKA	VDLSKDGLLG	DILQDLNTET	PQITPPPVMI
190	200	210	220	230	240
LKKKRSIGAS	PNPFSVHTAT	AVPSGKIASP	VSRKEPPLTP	VPLKRAEFAG	DDVQVESTEE
250	260	270	280	290	300
EQESGAMEFE	DGDFDEPMEV	EEVDLEPMAA	KAWDKESEPA	EEVKQEADSG	KGTVSYLGSF
310	320	330	340	350	360
LPDVSCWDID	QEGDSSFSVQ	EVQVDSSHLP	LVKGADEEQV	FHFYWLDAYE	DQYNQPGVVF
370	380	390	400	410	420
LFGKVWIESA	ETHVSCCVMV	KNIERTLYFL	PREMKIDLNT	GKETGTPISM	KDVYEEFDEK
430	440	450	460	470	480
IATKYKIMKF	KSKPVEKNYA	FEIPDVPEKS	EYLEVKYSAE	MPQLPQDLKG	ETFSHVFGTN
490	500	510	520	530	540
TSSLELFLMN	RKIKGPCWLE	VKSPQLLNQP	VSWCKVEAMA	LKPDLVNVIK	DVSPPPLVVM
550	560	570	580	590	600
AFSMKTMQNA	KNHQNEIIAM	AALVHHSFAL	DKAAPKPPFQ	SHFCVVSKPK	DCIFPYAFKE
610	620	630	640	650	660
VIEKKNVKVE	VAATERTLLG	FFLAKVHKID	PDIIVGHNIY	GFELEVLLQR	INVCKAPHWS
670	680	690	700	710	720
KIGRLKRSNM	PKLGGRSGFG	ERNATCGRMI	CDVEISAKEL	IRCKSYHLSE	LVQQILKTER
730	740	750	760	770	780
VVIPMENIQN	MYSESSQLLY	LLEHTWKDAK	FILQIMCELN	VLPLALQITN	IAGNIMSRTL
790	800	810	820	830	840
MGGRSERNEF	LLLHAFYENN	YIVPDKQIFR	KPQQKLGDED	EEIDGDTNKY	KKGRKKAAYA
850	860	870	880	890	900
GGLVLDPKVG	FYDKFILLLD	FNSLYPSIIQ	EFNICFTTVQ	RVASEAQKVT	EDGEQEQIPE
910	920	930	940	950	960
LPDPSLEMGI	LPREIRKLVE	RRKQVKQLMK	QQDLNPDLIL	QYDIRQKALK	LTANSMYGCL
970	980	990	1000	1010	1020
GFSYSRFYAK	PLAALVTYKG	REILMHTKEM	VQKMNLEVIY	GDTDSIMINT	NSTNLEEVFK
1030	1040	1050	1060	1070	1080
LGNKVKSEVN	KLYKLLEIDI	DGVFKSLLLL	KKKKYAALVV	EPTSDGNYVT	KQELKGLDIV
1090	1100	1110	1120	1130	1140
RRDWCDLAKD	TGNFVIGQIL	SDQSRDTIVE	NIQKRLIEIG	ENVLNGSVPV	SQFEINKALT
1150	1160	1170	1180	1190	1200
KDPQDYPDKK	SLPHVHVALW	INSQGGRKVK	AGDTVSYVIC	QDGSNLTASQ	RAYAPEQLQK
1210	1220	1230	1240	1250	1260
QDNLTIDTQY	YLAQQIHPVV	ARICEPIDGI	DAVLIATWLG	LDPTQFRVHH	YHKDEENDAL
1270	1280	1290	1300	1310	1320
LGGPAQLTDE	EKYRDCERFK	CPCPTCGTEN	IYDNVFDGSG	TDMEPSLYRC	SNIDCKASPL
1330	1340	1350	1360	1370	1380
TFTVQLSNKL	IMDIRRFIKK	YYDGWLICEE	PTCRNRTRHL	PLQFSRTGPL	CPACMKATLQ
1390	1400	1410	1420	1430	1440
PEYSDKSLYT	QLCFYRYIFD	AECALEKLTT	DHEKDKLKKQ	FFTPKVLQDY	RKLKNTAEQF
1450	1460
LSRSGYSEVN	LSKLFAGCAV	KS