AiPD: Autoinhibited Protein Database

P35269

Gene name	GTF2F1 (RAP74)
Protein name	General transcription factor IIF subunit 1
Names	General transcription factor IIF 74 kDa subunit, Transcription initiation factor IIF subunit alpha, TFIIF-alpha, Transcription initiation factor RAP74
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2962
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

183-464 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

183-464 (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

57 structures for P35269

Entry ID	Method	Resolution	Chain	Position	Source
1F3U	X-ray	170 A	B/D/F/H	2-172	PDB
1I27	X-ray	102 A	A	449-517	PDB
1J2X	X-ray	200 A	A	449-517	PDB
1NHA	NMR	-	A	436-517	PDB
1ONV	NMR	-	A	436-517	PDB
2K7L	NMR	-	A	451-517	PDB
5IY6	EM	720 A	S	1-517	PDB
5IY7	EM	860 A	S	1-517	PDB
5IY8	EM	790 A	S	1-517	PDB
5IY9	EM	630 A	S	1-517	PDB
5IYA	EM	540 A	S	1-517	PDB
5IYB	EM	390 A	S	1-517	PDB
5IYC	EM	390 A	S	1-517	PDB
5IYD	EM	390 A	S	1-517	PDB
6O9L	EM	720 A	S	1-517	PDB
7EDX	EM	450 A	S	1-517	PDB
7EG7	EM	620 A	S	1-517	PDB
7EG8	EM	740 A	S	1-517	PDB
7EG9	EM	370 A	S	1-517	PDB
7EGA	EM	410 A	S	1-517	PDB
7EGB	EM	330 A	S	1-517	PDB
7EGC	EM	390 A	S	1-517	PDB
7ENA	EM	407 A	FA	1-517	PDB
7ENC	EM	413 A	FA	1-517	PDB
7LBM	EM	480 A	S	1-517	PDB
7NVR	EM	450 A	Q	1-517	PDB
7NVS	EM	280 A	Q	1-517	PDB
7NVT	EM	290 A	Q	1-517	PDB
7NVU	EM	250 A	Q	1-517	PDB
7NVY	EM	730 A	Q	1-517	PDB
7NVZ	EM	720 A	Q	1-517	PDB
7NW0	EM	660 A	Q	1-517	PDB
7ZWD	EM	300 A	Q	1-517	PDB
7ZX7	EM	340 A	Q	1-517	PDB
7ZX8	EM	300 A	Q	1-517	PDB
8BVW	EM	400 A	Q	1-517	PDB
8BYQ	EM	410 A	Q	1-517	PDB
8BZ1	EM	380 A	Q	1-517	PDB
8GXQ	EM	504 A	FA	1-517	PDB
8GXS	EM	416 A	FA	1-517	PDB
8WAK	EM	547 A	S	1-517	PDB
8WAL	EM	852 A	S	1-517	PDB
8WAN	EM	607 A	S	1-517	PDB
8WAO	EM	640 A	S	1-517	PDB
8WAP	EM	585 A	S	1-517	PDB
8WAQ	EM	629 A	S	1-517	PDB
8WAR	EM	720 A	S	1-517	PDB
8WAS	EM	613 A	S	1-517	PDB
8WAT	EM	282 A	S	1-517	PDB
8WAU	EM	278 A	S	1-517	PDB
8WAV	EM	272 A	S	1-517	PDB
8WAW	EM	302 A	S	1-517	PDB
8WAX	EM	275 A	S	1-517	PDB
8WAY	EM	285 A	S	1-517	PDB
8WAZ	EM	276 A	S	1-517	PDB
8WB0	EM	294 A	S	1-517	PDB
AF-P35269-F1	Predicted				AlphaFoldDB

481 variants for P35269

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs536588113 CA9124194	2	A>P		No	ClinGen 1000Genomes ExAC gnomAD
rs536588113 CA403609035	2	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1220049130 CA403609028	3	A>S		No	ClinGen gnomAD
VAR_039004 rs34826931 CA304773802	3	A>V		No	ClinGen UniProt Ensembl dbSNP
CA9124192 rs767394742	4	L>P		No	ClinGen ExAC gnomAD
rs762788043 CA9124169	5	G>D		No	ClinGen ExAC gnomAD
rs150462935 CA9124167	6	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9124166 rs140541374	7	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9124165 rs151336104	7	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA403608997 rs1356506559	7	S>T		No	ClinGen TOPMed
CA9124164 rs375506635	8	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1255159492 CA403608990	8	S>T		No	ClinGen gnomAD
CA9124163 rs746175061	10	N>H		No	ClinGen ExAC gnomAD
CA403608975 rs779139986	10	N>I		No	ClinGen ExAC gnomAD
CA9124162 rs779139986	10	N>T		No	ClinGen ExAC gnomAD
rs771523648 CA9124161	11	V>A		No	ClinGen ExAC
TCGA novel	12	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403608952 rs1248239283	13	E>K		No	ClinGen TOPMed
CA9124160 rs528061286	15	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA403608936 rs528061286	15	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs777461502 CA304773643	17	R>*		No	ClinGen ExAC TOPMed gnomAD
rs777461502 CA9124159	17	R>G		No	ClinGen ExAC TOPMed gnomAD
CA403608898 rs1288285850	19	P>L		No	ClinGen gnomAD
CA9124158 rs755641898	20	K>T		No	ClinGen ExAC gnomAD
CA403607859 rs1315619900	22	T>K		No	ClinGen TOPMed
rs983531068 CA304773097	23	T>I		No	ClinGen Ensembl
rs1355313993 CA403607837	25	K>N		No	ClinGen gnomAD
rs368006531 CA304773092	25	K>Q		No	ClinGen ESP TOPMed
CA9124101 rs768227538	26	Y>C		No	ClinGen ExAC gnomAD
CA9124099 rs775058830	27	N>D		No	ClinGen ExAC gnomAD
CA9124098 rs771769847	29	M>I		No	ClinGen ExAC gnomAD
CA403607805 rs1299101200	30	A>T		No	ClinGen gnomAD
rs1401905152 CA403607802	30	A>V		No	ClinGen TOPMed gnomAD
CA9124097 rs541160947	32	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1323398281 CA403607781	33	A>V		No	ClinGen gnomAD
COSM1002882 rs1416347587 CA403607774	35	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA403607757 rs757001649	37	V>I		No	ClinGen ExAC TOPMed
rs757001649 CA9124095	37	V>L		No	ClinGen ExAC TOPMed
CA403607749 rs201607871	38	N>K		No	ClinGen TOPMed
rs777511430 CA9124094	38	N>S		No	ClinGen ExAC TOPMed gnomAD
rs777511430 CA9124093	38	N>T		No	ClinGen ExAC TOPMed gnomAD
rs200636022 CA9124092	39	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA9124091 rs751650953	41	T>M		No	ClinGen ExAC TOPMed gnomAD
rs766465164 CA9124090	44	Q>K		No	ClinGen ExAC
rs959950219 CA304773045	44	Q>P		No	ClinGen Ensembl
CA9124045 rs767942493	45	A>V		No	ClinGen ExAC gnomAD
CA403607292 rs760026116	46	R>P		No	ClinGen ExAC TOPMed gnomAD
CA9124042 rs760026116	46	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs531458742 COSM1680551 CA9124043	46	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes TOPMed
CA9124041 rs751122049	48	E>G		No	ClinGen ExAC gnomAD
rs1448339547 CA403607285	48	E>K		No	ClinGen gnomAD
CA403607278 rs1299141334	49	R>G		No	ClinGen gnomAD
rs765847643 CA9124040	49	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA403607271 rs1380837215	50	D>G		No	ClinGen gnomAD
CA403607274 rs762549332	50	D>N		No	ClinGen ExAC TOPMed gnomAD
CA9124039 rs762549332	50	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA9124038 rs147656554	51	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA304771625 rs961951855	51	L>S		No	ClinGen TOPMed gnomAD
rs764955912 CA9124037	52	S>I		No	ClinGen ExAC gnomAD
TCGA novel	56	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403607223 rs1486791504	57	Y>H		No	ClinGen gnomAD
TCGA novel	58	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761604504 CA9124036	59	E>K		No	ClinGen ExAC gnomAD
rs545645483 CA9124035	61	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA403607175 rs1488689433	63	P>S		No	ClinGen gnomAD
rs746920397 CA9124033	64	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	64	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1321453303 CA403607159	65	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs771002548 CA9124031	66	G>D		No	ClinGen ExAC gnomAD
COSM1666443 CA9124029 rs777991208	67	A>T	eye [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs756437207 CA9124028	67	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1194051491 CA403607131	70	E>A		No	ClinGen TOPMed
CA403607115 rs1249942607	72	N>T		No	ClinGen TOPMed
TCGA novel	73	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9124025 rs375181613	73	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1165194592 CA403607101	74	K>N		No	ClinGen gnomAD
CA9124024 rs752024597	74	K>R		No	ClinGen ExAC gnomAD
CA403607092 rs1187835213	76	R>W		No	ClinGen TOPMed
rs765832772 CA9124023	77	E>K		No	ClinGen ExAC
rs1395471102 CA403607077	78	E>G		No	ClinGen TOPMed
rs1421733134 CA403607081	78	E>K		No	ClinGen gnomAD
rs1568331783 CA403607064	80	R>Q		No	ClinGen Ensembl
CA403607066 rs1196838858	80	R>W		No	ClinGen gnomAD
CA403607033 rs201169675	84	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750049342 CA9124021	84	Y>H		No	ClinGen ExAC gnomAD
TCGA novel	85	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	85	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148541576 CA9124018 COSM1002881	87	V>I	endometrium Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs763949468 CA9124016	89	K>E		No	ClinGen ExAC gnomAD
rs201786699 CA9124015	90	E>A		No	ClinGen ExAC TOPMed gnomAD
rs145753620 CA403606996	90	E>D		No	ClinGen ESP TOPMed
CA9124013 rs770924447	92	R>Q		No	ClinGen ExAC gnomAD
CA9124014 rs149942231	92	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs749319314 CA9124012	94	E>K		No	ClinGen ExAC TOPMed gnomAD
rs773158682 CA9124011	95	D>G		No	ClinGen ExAC gnomAD
CA9124010 rs371749050	98	W>*		No	ClinGen ESP ExAC gnomAD
CA9124009 rs748342089	99	L>V		No	ClinGen ExAC TOPMed gnomAD
CA9124008 rs188082753	100	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs531279560 CA9124007	101	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA403606931 rs1170182827	101	R>W		No	ClinGen TOPMed gnomAD
CA9124006 rs574474784	102	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA403606927 rs574474784	102	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780544007 CA9124005	103	N>D		No	ClinGen ExAC gnomAD
CA9124004 rs376084679	103	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201622118 CA304771524	103	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
CA9124002 rs757008742	104	G>C		No	ClinGen ExAC gnomAD
rs757008742 CA9124001	104	G>S		No	ClinGen ExAC gnomAD
CA304771516 rs78502158	105	K>*		No	ClinGen Ensembl
CA304771514 rs75905892	105	K>T		No	ClinGen Ensembl
CA403606890 rs1568331718	108	R>K		No	ClinGen Ensembl
CA9123961 rs746408064	112	G>V		No	ClinGen ExAC gnomAD
rs141810642 CA9123956	118	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA403606585 rs1367113249	119	T>K		No	ClinGen gnomAD
TCGA novel	120	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9123954 rs752254444	120	E>G		No	ClinGen ExAC gnomAD
rs754673244 CA9123952	122	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs758322035 CA9123949	124	Y>D		No	ClinGen ExAC gnomAD
CA403606545 rs1355085979	125	Y>C		No	ClinGen gnomAD
rs1224285419 CA403606548	125	Y>H		No	ClinGen gnomAD
rs1352512986 CA403606541	126	I>L		No	ClinGen gnomAD
CA403606538 rs1314100324	126	I>N		No	ClinGen TOPMed
rs753970838 CA9123948	127	F>L		No	ClinGen ExAC TOPMed gnomAD
rs775523640 CA9123945	132	D>N		No	ClinGen ExAC TOPMed gnomAD
rs767933553 CA9123944	133	G>E		No	ClinGen ExAC gnomAD
rs375738326 CA304769954	134	A>V		No	ClinGen ESP TOPMed gnomAD
CA9123942 rs201557731 COSM179447	136	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA403606464 rs1244349627	137	A>V		No	ClinGen TOPMed
CA9123939 rs556406656	140	V>M	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs747852392 CA9123937	142	N>S		No	ClinGen ExAC TOPMed gnomAD
rs780643383 CA403606411	144	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA9123935 rs760069997	148	P>L		No	ClinGen ExAC TOPMed gnomAD
CA403606373 rs1408290046	150	A>V		No	ClinGen TOPMed
rs750319008 CA9123931	151	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1209004307 CA403606371	151	R>W	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs775027102 CA9123929	153	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs769115518 CA304769895	153	R>H		No	ClinGen TOPMed gnomAD
rs752964255 CA9123928	154	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1348635196 CA403606350	155	L>V		No	ClinGen gnomAD
CA9123925 rs774904382	156	T>A		No	ClinGen ExAC gnomAD
rs1397159169 CA403606341	156	T>I		No	ClinGen gnomAD
rs377008292 CA9123924	157	A>D		No	ClinGen ESP ExAC gnomAD
rs377008292 CA403606336	157	A>V		No	ClinGen ESP ExAC gnomAD
rs148016023 CA9123922	158	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA9123919 rs776195765	161	E>K		No	ClinGen ExAC TOPMed gnomAD
CA304769835 rs1052224653	163	E>*		No	ClinGen TOPMed
rs1005375043 CA304769831	164	W>*		No	ClinGen gnomAD
rs1005375043 CA403606285	164	W>C		No	ClinGen gnomAD
rs746645116 CA9123917	164	W>R		No	ClinGen ExAC gnomAD
CA304769825 rs936474276	166	R>W		No	ClinGen TOPMed
TCGA novel	167	R>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA304765852 rs991492044	167	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA403605593 rs1374512747	169	K>T		No	ClinGen gnomAD
CA403605575 rs1461777241	171	L>V		No	ClinGen gnomAD
rs760340730 CA403605554	173	H>P		No	ClinGen ExAC gnomAD
rs760340730 CA9123898	173	H>R		No	ClinGen ExAC gnomAD
rs144490270 CA304765846	175	S>T		No	ClinGen ESP
CA403605500 rs1357111490	178	Q>*		No	ClinGen gnomAD
rs201459418 CA9123897	180	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9123895 rs745726136	180	R>Q		No	ClinGen ExAC TOPMed
rs201459418 CA9123896	180	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1599211307 CA403605471	181	R>L		No	ClinGen Ensembl
CA403605475 rs1599211315	181	R>W		No	ClinGen Ensembl
rs1418232598 CA403605416	186	D>V		No	ClinGen gnomAD
CA403605407 rs1408469540	187	Q>E		No	ClinGen gnomAD
CA403605390 rs749216955	188	D>A		No	ClinGen ExAC TOPMed gnomAD
rs749216955 CA9123892	188	D>G		No	ClinGen ExAC TOPMed gnomAD
CA9123889 rs751837295	189	E>G		No	ClinGen ExAC TOPMed gnomAD
rs755029220 CA9123890	189	E>K		No	ClinGen ExAC TOPMed gnomAD
rs200251922 CA403605362	190	D>E		No	ClinGen Ensembl
rs1238974029 CA403605332	193	E>A		No	ClinGen gnomAD
rs1238974029 CA403605330	193	E>G		No	ClinGen gnomAD
CA9123886 rs758679922	194	K>E		No	ClinGen ExAC TOPMed
CA304765776 rs1000708854	195	E>V		No	ClinGen TOPMed
CA304765773 rs750871501	197	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9123882 rs368947114	197	R>H	Variant assessed as Somatic; 0.0001387 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA9123883 rs750871501	197	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1292370628 CA403605281	198	G>D		No	ClinGen gnomAD
rs1292370628 CA403605279	198	G>V		No	ClinGen gnomAD
CA9123880 rs762261355	199	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9123879 rs138860335	199	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs138860335 CA403605275	199	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA403605256 rs146906617	202	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA9123878 rs146906617	202	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA9123876 rs774972600	203	S>R		No	ClinGen ExAC gnomAD
CA9123875 rs34220695	203	S>R		No	ClinGen ExAC TOPMed gnomAD
CA304765737 rs899469687	204	E>G		No	ClinGen TOPMed gnomAD
CA9123873 rs553160989	204	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770718383 CA9123872	205	L>R		No	ClinGen ExAC
CA403605241 rs1476193410	205	L>V		No	ClinGen gnomAD
CA9123871 rs142604322	206	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1185057701 CA403605236	206	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA403605222 rs1263082360	208	H>R		No	ClinGen gnomAD
CA9123867 rs780260547	209	D>A		No	ClinGen ExAC gnomAD
CA9123868 rs747145254	209	D>N		No	ClinGen ExAC gnomAD
CA403605205 rs1356771175	211	E>*		No	ClinGen gnomAD
CA304765714 rs1044678256	212	D>N		No	ClinGen TOPMed
CA403605191 rs368399121	213	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA9123862 rs368399121	213	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA403605172 rs1568329870	216	M>L		No	ClinGen Ensembl
CA403605158 rs1451524687	217	S>L		No	ClinGen TOPMed gnomAD
CA9123858 rs764725687	218	S>T		No	ClinGen ExAC TOPMed gnomAD
CA304765695 rs374186493	219	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA9123856 rs374186493	219	D>N	Variant assessed as Somatic; 4.65e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA403605140 rs1429266053	221	S>G		No	ClinGen gnomAD
rs759216651 CA9123854	221	S>I		No	ClinGen ExAC gnomAD
CA9123853 rs774005075	224	S>G		No	ClinGen ExAC gnomAD
CA403605108 rs1280958850	225	G>A		No	ClinGen TOPMed
rs1215987535 CA403605092	227	E>D		No	ClinGen TOPMed gnomAD
rs1599209924 CA403605067	228	G>E		No	ClinGen Ensembl
rs1336463160 CA403605090	228	G>R		No	ClinGen gnomAD
CA9123824 rs140441631	229	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1396203759 CA403605064	229	G>S		No	ClinGen gnomAD
CA9123822 rs749439237	233	K>R		No	ClinGen ExAC gnomAD
CA403605031 rs1180592707	234	A>D		No	ClinGen gnomAD
CA403605011 rs1599209890	237	K>E		No	ClinGen Ensembl
rs778141640 CA9123820	238	A>V		No	ClinGen ExAC gnomAD
CA9123817 rs201517329	239	P>L		No	ClinGen ExAC TOPMed gnomAD
CA403604996 rs201517329	239	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA9123815 rs751130600	240	L>P		No	ClinGen ExAC gnomAD
rs151286851 CA9123814	241	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA304764885 rs142301544	241	A>V		No	ClinGen ESP
rs371898663 CA9123811	244	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs371898663 CA9123810	244	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	247	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9123806 rs764182606	250	K>R		No	ClinGen ExAC gnomAD
rs760503831 CA9123805	251	K>E		No	ClinGen ExAC gnomAD
CA403604889 rs770875178	252	G>A		No	ClinGen ExAC TOPMed gnomAD
rs774525534 CA9123804	252	G>R		No	ClinGen ExAC
CA9123801 rs770875178	252	G>V		No	ClinGen ExAC TOPMed gnomAD
rs375772878 CA403604857	255	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA403604866 rs201017853	255	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9123799 rs201017853 COSM3836080	255	D>N	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs748571217 CA9123797	256	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9123796 rs781516730	257	A>V		No	ClinGen ExAC TOPMed gnomAD
CA304764814 rs769245866	258	F>L		No	ClinGen ExAC gnomAD
CA9123795 rs769245866	258	F>V		No	ClinGen ExAC gnomAD
CA9123794 COSM161433 rs747435096	259	E>K	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1322487794 CA403604804	260	D>N		No	ClinGen TOPMed
rs577451471 CA9123792	262	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9123793 rs779642296	262	D>N		No	ClinGen ExAC TOPMed gnomAD
rs779642296 CA403604767	262	D>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	264	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA304764800 rs1034936279	265	D>Y		No	ClinGen TOPMed
CA403604696 CA9123790 rs142704916	266	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1352576027 CA403604710	266	F>L		No	ClinGen gnomAD
rs372274029 CA9123789	267	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA9123788 rs753730398	267	E>V		No	ClinGen ExAC gnomAD
CA403604675 rs1295165131	268	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	270	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9123787 rs143508435	270	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA403604606 rs1568329278	272	D>H		No	ClinGen Ensembl
CA9123785 rs752528205	273	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1350314395 CA403604592	273	Y>H		No	ClinGen gnomAD
CA9123784 rs766491852	274	M>V		No	ClinGen ExAC TOPMed gnomAD
rs762872560 CA9123783	275	S>L		No	ClinGen ExAC gnomAD
CA9123781 rs761992387	277	G>C		No	ClinGen ExAC TOPMed gnomAD
CA9123780 rs761992387	277	G>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	277	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA304764767 rs998133108	278	S>P		No	ClinGen Ensembl
CA403604398 rs1353601719	280	S>G		No	ClinGen gnomAD
rs753039298 CA9123741	284	E>D		No	ClinGen ExAC gnomAD
rs1431161646 CA403604369	284	E>K		No	ClinGen gnomAD
CA403604366 rs1393185958	284	E>V		No	ClinGen gnomAD
CA9123740 rs531762713	285	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA403604357 rs1356880683	286	E>K		No	ClinGen TOPMed gnomAD
rs375396180 CA304764551	287	S>I		No	ClinGen ESP TOPMed gnomAD
TCGA novel	287	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9123739 rs760139557	288	K>E		No	ClinGen ExAC TOPMed gnomAD
CA884104643 rs1227695939	289	A>*		No	ClinGen Ensembl
CA403604329 rs1233725026	290	K>E		No	ClinGen gnomAD
rs1207378480 CA403604321	291	A>T		No	ClinGen TOPMed gnomAD
rs774939372 CA9123738	291	A>V		No	ClinGen ExAC gnomAD
rs762618865 CA9123736	292	P>L		No	ClinGen ExAC TOPMed gnomAD
rs762618865 CA403604313	292	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs762618865 CA403604312	292	P>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	292	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9123734 rs200800402	293	Q>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747797295 CA403604303	294	Q>E		No	ClinGen ExAC gnomAD
rs747797295 CA9123733	294	Q>K		No	ClinGen ExAC gnomAD
rs1568329138 CA403604295	295	E>*		No	ClinGen Ensembl
CA403604289 rs1372137540	296	E>K		No	ClinGen gnomAD
rs1258528669 CA403604284	296	E>V		No	ClinGen gnomAD
rs1279836613 CA403604276	297	G>V		No	ClinGen gnomAD
CA9123731 rs768383952	298	P>L		No	ClinGen ExAC gnomAD
CA9123730 rs746955897	299	K>R		No	ClinGen ExAC TOPMed gnomAD
rs780035055 CA9123729	300	G>S		No	ClinGen ExAC gnomAD
CA304764402 rs746150695	300	G>V		No	ClinGen Ensembl
CA9123700 rs758852230	301	V>I		No	ClinGen ExAC TOPMed gnomAD
CA9123699 rs750886902	302	D>N		No	ClinGen ExAC gnomAD
CA304764374 rs779200887	304	Q>*		No	ClinGen Ensembl
rs764659917 CA9123696	304	Q>H		No	ClinGen ExAC gnomAD
CA403604219 rs1429610729	305	S>N		No	ClinGen gnomAD
rs146025220 CA403604216	305	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs776107584 CA403604214	306	D>H		No	ClinGen ExAC gnomAD
CA9123694 rs776107584	306	D>N		No	ClinGen ExAC gnomAD
rs1568329044 CA403604206	307	S>G		No	ClinGen Ensembl
rs149888355 CA9123692	308	S>T		No	ClinGen ESP ExAC TOPMed
rs1468323120 CA403604178	310	E>D		No	ClinGen gnomAD
rs1568329033 CA403604173	311	S>N		No	ClinGen Ensembl
rs1251928430 CA403604170	311	S>R		No	ClinGen gnomAD
rs760293834 CA9123690	312	E>Q		No	ClinGen ExAC gnomAD
CA9123689 rs775291735	313	E>K		No	ClinGen ExAC gnomAD
rs771316028 CA304764334	315	K>*		No	ClinGen ExAC TOPMed gnomAD
CA9123687 rs771316028	315	K>E		No	ClinGen ExAC TOPMed gnomAD
CA403604146 rs771316028	315	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA9123685 rs774276549	316	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1369993909 CA403604115	319	E>D		No	ClinGen gnomAD
rs571772186 CA9123682	320	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748317227 CA9123683	320	D>N		No	ClinGen ExAC TOPMed gnomAD
rs376033757 CA9123681	321	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs747180102 CA9123679	322	E>G		No	ClinGen ExAC TOPMed gnomAD
CA304764281 rs923529830	322	E>K		No	ClinGen Ensembl
rs1372881405 CA403604063	323	E>V		No	ClinGen gnomAD
rs1213640795 CA403604043	324	E>D		No	ClinGen TOPMed
rs1454074232 COSM1209161 CA403604020	326	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1266372919 CA403603994	327	K>E		No	ClinGen TOPMed
CA403603989 rs1396102532	327	K>R		No	ClinGen gnomAD
CA403603975 rs1599209159	328	K>E		No	ClinGen Ensembl
CA403603964 rs1599209155	328	K>T		No	ClinGen Ensembl
rs371175259 CA9123676	331	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA9123674 COSM1209159 rs150745438	332	P>L	Variant assessed as Somatic; 5.041e-05 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1464444198 CA403603910	332	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA403603868 rs1276616805	334	E>D		No	ClinGen gnomAD
rs1206684696 CA403603879	334	E>K		No	ClinGen gnomAD
rs368280063 CA9123671	336	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9123669 rs541438215	337	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD
rs1346827975 CA403603828 COSM1002875	337	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs541438215 CA304764233	337	R>S		No	ClinGen 1000Genomes TOPMed gnomAD
rs1404624184 CA403603803	339	K>E		No	ClinGen TOPMed
rs763550758 CA9123668	339	K>T		No	ClinGen ExAC gnomAD
rs143281847 CA9123637	340	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9123636 rs527508942	341	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9123635 rs749797850	342	S>G		No	ClinGen ExAC gnomAD
CA9123632 rs752299707	343	E>*		No	ClinGen ExAC TOPMed gnomAD
CA9123633 rs752299707	343	E>K		No	ClinGen ExAC TOPMed gnomAD
CA403603698 rs1164539044	344	E>*		No	ClinGen gnomAD
rs1474374379 CA403603696	344	E>G		No	ClinGen TOPMed gnomAD
CA403603689 rs780535392	345	S>*		No	ClinGen ExAC gnomAD
CA9123631 rs780535392	345	S>L		No	ClinGen ExAC gnomAD
CA403603674 rs1251305753	347	S>I		No	ClinGen gnomAD
CA9123629 rs200961335	348	S>A		No	ClinGen 1000Genomes ExAC gnomAD
rs200961335 CA403603670	348	S>P		No	ClinGen 1000Genomes ExAC gnomAD
CA9123628 rs766201648	349	E>*		No	ClinGen ExAC gnomAD
CA403603661 rs1292073849	349	E>D		No	ClinGen TOPMed gnomAD
CA9123627 rs762909769	350	E>D		No	ClinGen ExAC gnomAD
rs1339302532 CA403603649	351	S>N		No	ClinGen gnomAD
rs1369271605 CA403603639	352	D>E		No	ClinGen gnomAD
CA9123625 rs765317059	352	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	352	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9123623 rs376779199	353	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs761814202 CA9123624	353	I>V		No	ClinGen ExAC gnomAD
rs759814022 CA9123621	355	S>I		No	ClinGen ExAC gnomAD
rs771134395 CA9123619	356	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1283556488 CA403603602	358	S>A		No	ClinGen TOPMed
rs1451044945 CA403603585	361	L>V		No	ClinGen gnomAD
CA403603579 rs1308990106	362	F>L		No	ClinGen gnomAD
rs770324925 CA9123615	364	A>V		No	ClinGen ExAC TOPMed gnomAD
rs778868830 CA9123589	365	K>Q		No	ClinGen ExAC gnomAD
CA9123588 rs756931564	367	K>T		No	ClinGen ExAC TOPMed gnomAD
CA9123587 rs753659161	368	T>A		No	ClinGen ExAC TOPMed gnomAD
COSM1397270 rs147291523 CA9123586	368	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed
CA304763901 rs866198431	371	K>E		No	ClinGen Ensembl
CA9123582 rs751676609	371	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1474267717 CA403603494	373	E>*		No	ClinGen gnomAD
CA403603491 rs1255997902	373	E>V		No	ClinGen gnomAD
CA304763881 rs375189684	374	R>Q		No	ClinGen ESP TOPMed gnomAD
rs766404728 CA9123580	374	R>W		No	ClinGen ExAC TOPMed gnomAD
rs763184642 CA9123579	376	P>L		No	ClinGen ExAC TOPMed gnomAD
CA9123577 rs765442181	377	S>L		No	ClinGen ExAC TOPMed gnomAD
CA9123575 rs777032976	378	G>E		No	ClinGen ExAC gnomAD
rs200785566 CA304763847	383	G>D		No	ClinGen 1000Genomes TOPMed
rs200785566 CA9123573	383	G>V		No	ClinGen 1000Genomes TOPMed
rs1568328704 CA403603422	385	S>G		No	ClinGen Ensembl
rs143977043 CA9123571	386	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9123570 rs775166072	386	R>H		No	ClinGen ExAC TOPMed gnomAD
CA403603409 rs1322819454	387	P>S		No	ClinGen gnomAD
CA403603405 rs1367995785	388	G>S		No	ClinGen gnomAD
rs745515448 CA9123568	389	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1450497073 CA403603383	391	S>N		No	ClinGen gnomAD
rs375204831 CA9123563	392	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA9123564 rs777591705	392	A>T		No	ClinGen ExAC TOPMed gnomAD
CA403603369 rs1264330666	393	E>D		No	ClinGen gnomAD
CA403603368 rs1296085530	394	G>S		No	ClinGen TOPMed
rs557666933 CA9123562	397	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA403603347 rs1599208514	397	T>P		No	ClinGen Ensembl
CA9123561 rs780120435	398	S>A		No	ClinGen ExAC gnomAD
CA9123560 rs758541092	398	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA403603327 rs1385272539	399	S>F		No	ClinGen gnomAD
rs1555721775 CA9123558	400	T>P		No	ClinGen Ensembl
rs370397042 CA403603295	402	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370397042 CA9123557	402	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA304763790 rs769460685	402	R>W		No	ClinGen TOPMed gnomAD
CA9123556 rs201144023	403	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754188897 CA9123554	404	A>P		No	ClinGen ExAC gnomAD
CA403603262 rs1430759732	405	A>T		No	ClinGen gnomAD
CA9123553 rs764473497	405	A>V		No	ClinGen ExAC gnomAD
rs1189130086 CA403603215	408	L>F		No	ClinGen TOPMed gnomAD
CA403603202 rs1266318947	409	E>K	Variant assessed as Somatic; 7.454e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9123550 rs772698034	410	Q>R		No	ClinGen ExAC gnomAD
rs762527044 CA403601603	413	R>P		No	ClinGen ExAC TOPMed gnomAD
rs762527044 CA9123527	413	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs190305979 CA9123528	413	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9123525 rs377173937	416	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs767658856 CA304763604	418	P>S		No	ClinGen Ensembl
rs147113729 CA9123524	419	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA9123523 rs776378479	420	A>D		No	ClinGen ExAC gnomAD
CA9123521 rs372654939	422	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9123522 rs768609479	422	R>W		No	ClinGen ExAC TOPMed gnomAD
CA403601474 rs1267750297	423	L>S		No	ClinGen gnomAD
CA403601478 rs1463712026	423	L>V		No	ClinGen gnomAD
CA9123518 rs200284295	424	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs368902544 CA9123519	424	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1391925622 CA403601453	425	L>P		No	ClinGen Ensembl
rs756385549 CA9123516	426	D>G		No	ClinGen ExAC gnomAD
rs374679232 CA9123514	427	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA9123513 rs374679232	427	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs374679232 CA304763563	427	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA403601376 rs1599208148	431	S>N		No	ClinGen Ensembl
CA9123510 rs73563878	436	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1472419922 CA403601308	437	T>A		No	ClinGen gnomAD
rs1405053120 CA403601304	437	T>R		No	ClinGen TOPMed
rs372264706 CA9123508	438	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA9123507 rs761413505	438	P>H		No	ClinGen ExAC TOPMed gnomAD
CA403601296 rs372264706	438	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1465832304 CA403601258	441	P>S		No	ClinGen gnomAD
rs575662882 CA403601230	443	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs575662882 CA9123505	443	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1209375318 CA403601196	446	T>A		No	ClinGen gnomAD
CA403601189 rs1357663515	446	T>I		No	ClinGen gnomAD
CA9123503 rs775560246	448	N>H		No	ClinGen ExAC gnomAD
rs202050363	449	S>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA403601158 rs1454484351	449	S>C		No	ClinGen TOPMed
CA9123501 rs749438643	449	S>I		No	ClinGen ExAC TOPMed gnomAD
rs568959027	450	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs756438444 CA9123499	450	G>S		No	ClinGen ExAC
CA403601140 rs1435334725	450	G>V		No	ClinGen gnomAD
CA403601094 rs1407893984	451	D>N		No	ClinGen gnomAD
rs150223769 CA9123477	452	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9123476 rs747440550	455	T>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	457	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9123475 rs532144980	457	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA9123473 rs560145579	459	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
COSM1680550 CA9123471 rs376701000	460	R>C	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs753328893 CA9123470 COSM1002874	460	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA304763425 rs376701000	460	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	461	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767170843 CA403600981	463	L>M		No	ClinGen ExAC gnomAD
rs774365042 CA9123464	468	M>K		No	ClinGen ExAC gnomAD
CA9123465 rs759532759	468	M>V		No	ClinGen ExAC gnomAD
rs770988666 CA9123463	470	T>I		No	ClinGen ExAC TOPMed gnomAD
CA403600919 rs762042946	472	D>E		No	ClinGen ExAC gnomAD
CA403600916 rs1390295678	473	L>V		No	ClinGen gnomAD
rs747149114 CA9123459	479	T>A		No	ClinGen ExAC gnomAD
TCGA novel	479	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403600847 CA403600848 rs1156950653	483	G>R		No	ClinGen gnomAD
TCGA novel	485	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772256816 CA9123457	487	E>K		No	ClinGen ExAC gnomAD
CA403600745 rs1401183081	490	V>A		No	ClinGen TOPMed
COSM1189793 rs199893553 CA9123454	492	V>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA9123455 rs199893553 COSM169179	492	V>M	Variant assessed as Somatic; 0.0001848 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA9123453 rs753390449	494	A>G		No	ClinGen ExAC gnomAD
CA403600690 rs753390449	494	A>V		No	ClinGen ExAC gnomAD
rs752236063 CA9123450	496	I>V		No	ClinGen ExAC gnomAD
rs1327888790 CA403600656	497	L>I		No	ClinGen gnomAD
rs149599017 COSM1526573 CA9123449	499	R>Q	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs754798149 CA403600599	501	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1376947131 CA403600584	502	P>L		No	ClinGen gnomAD
CA403600581 rs1448489564	503	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs766468930 CA9123446 COSM3389487	504	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
COSM269290 rs146571246 CA9123444	504	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA9123445 rs146571246	504	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA403600549 rs1206217566	505	K>R		No	ClinGen TOPMed
rs1288676771 CA403600502	508	N>S		No	ClinGen TOPMed
rs760953612 CA9123442	509	D>N		No	ClinGen ExAC TOPMed gnomAD
CA9123441 rs775638504	511	M>T		No	ClinGen ExAC gnomAD
CA403600447 rs1269808748	512	H>R		No	ClinGen TOPMed
rs1422564157 CA403600414	515	L>F		No	ClinGen TOPMed gnomAD
CA403600411 rs1196897227	515	L>P		No	ClinGen TOPMed
CA304763349 rs1023748926	516	K>N		No	ClinGen gnomAD
rs1413783354 CA403600408	516	K>Q		No	ClinGen gnomAD
rs772320932 CA9123439	517	E>*		No	ClinGen ExAC gnomAD

No associated diseases with P35269

No regional properties for P35269

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for P35269

Functions

		Description
EC Number
Subcellular Localization	Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
cell junction	A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
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.
transcription factor TFIID complex	A complex composed of TATA binding protein (TBP) and TBP associated factors (TAFs); the total mass is typically about 800 kDa. Most of the TAFs are conserved across species. In TATA-containing promoters for RNA polymerase II (Pol II), TFIID is believed to recognize at least two distinct elements, the TATA element and a downstream promoter element. TFIID is also involved in recognition of TATA-less Pol II promoters. Binding of TFIID to DNA is necessary but not sufficient for transcription initiation from most RNA polymerase II promoters.
transcription factor TFIIF complex	A general transcription initiation factor which in humans consists of a heterodimer of an alpha and a beta subunit. Helps recruit RNA polymerase II to the initiation complex and promotes translation elongation.

9 GO annotations of molecular function

Name	Definition
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
phosphatase activator activity	Binds to and increases the activity of a phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a substrate molecule.
promoter-specific chromatin binding	Binding to a section of chromatin that is associated with gene promoter sequences of DNA.
protein domain specific binding	Binding to a specific domain of a protein.
protein phosphatase binding	Binding to a protein phosphatase.
RNA binding	Binding to an RNA molecule or a portion thereof.
RNA polymerase II general transcription initiation factor activity	A general transcription initiation factor activity that contributes to transcription start site selection and transcription initiation of genes transcribed by RNA polymerase II. The general transcription factors for RNA polymerase II include TFIIB, TFIID, TFIIE, TFIIF, TFIIH and TATA-binding protein (TBP). In most species, RNA polymerase II transcribes all messenger RNAs (mRNAs), most untranslated regulatory RNAs, the majority of the snoRNAs, four of the five snRNAs (U1, U2, U4, and U5), and other small noncoding RNAs. For some small RNAs there is variability between species as to whether it is transcribed by RNA polymerase II or RNA polymerase III. However there are also rare exceptions, such as Trypanosoma brucei, where RNA polymerase I transcribes certain mRNAs in addition to its normal role in rRNA transcription.
RNA polymerase II general transcription initiation factor binding	Binding to a basal RNA polymerase II transcription factor, any of the factors involved in formation of the preinitiation complex (PIC) by RNA polymerase II and defined as a basal or general transcription factor.
TFIIF-class transcription factor complex binding	Binding to a general RNA polymerase II transcription factor belonging to the TFIIF complex, one of the factors involved in formation of the preinitiation complex (PIC) by RNA polymerase II.

7 GO annotations of biological process

Name	Definition
negative regulation of protein binding	Any process that stops, prevents, or reduces the frequency, rate or extent of protein binding.
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.
positive regulation of transcription elongation by RNA polymerase II	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 RNA polymerase II.
response to virus	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 stimulus from a virus.
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).
transcription elongation by RNA polymerase II promoter	The extension of an RNA molecule after transcription initiation and promoter clearance at an RNA polymerase II promoter by the addition of ribonucleotides catalyzed by RNA polymerase II.
transcription initiation at RNA polymerase II promoter	A transcription initiation process that takes place at a RNA polymerase II gene promoter. Messenger RNAs (mRNA) genes, as well as some non-coding RNAs, are transcribed by RNA polymerase II.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MAALGPSSQN	VTEYVVRVPK	NTTKKYNIMA	FNAADKVNFA	TWNQARLERD	LSNKKIYQEE
70	80	90	100	110	120
EMPESGAGSE	FNRKLREEAR	RKKYGIVLKE	FRPEDQPWLL	RVNGKSGRKF	KGIKKGGVTE
130	140	150	160	170	180
NTSYYIFTQC	PDGAFEAFPV	HNWYNFTPLA	RHRTLTAEEA	EEEWERRNKV	LNHFSIMQQR
190	200	210	220	230	240
RLKDQDQDED	EEEKEKRGRR	KASELRIHDL	EDDLEMSSDA	SDASGEEGGR	VPKAKKKAPL
250	260	270	280	290	300
AKGGRKKKKK	KGSDDEAFED	SDDGDFEGQE	VDYMSDGSSS	SQEEPESKAK	APQQEEGPKG
310	320	330	340	350	360
VDEQSDSSEE	SEEEKPPEED	KEEEEEKKAP	TPQEKKRRKD	SSEESDSSEE	SDIDSEASSA
370	380	390	400	410	420
LFMAKKKTPP	KRERKPSGGS	SRGNSRPGTP	SAEGGSTSST	LRAAASKLEQ	GKRVSEMPAA
430	440	450	460	470	480
KRLRLDTGPQ	SLSGKSTPQP	PSGKTTPNSG	DVQVTEDAVR	RYLTRKPMTT	KDLLKKFQTK
490	500	510
KTGLSSEQTV	NVLAQILKRL	NPERKMINDK	MHFSLKE