AiPD: Autoinhibited Protein Database

Q92994

Gene name	BRF1 (BRF, GTF3B, TAF3B2, TAF3C)
Protein name	Transcription factor IIIB 90 kDa subunit
Names	TFIIIB90, hTFIIIB90, B-related factor 1, BRF-1, hBRF, TAF3B2, TATA box-binding protein-associated factor, RNA polymerase III, subunit 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2972
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

283-615 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

283-615 (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

1 structures for Q92994

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q92994-F1	Predicted				AlphaFoldDB

695 variants for Q92994

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000522521 rs757115243 RCV003159675 CA391178001	216	R>Q	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA391177952 RCV002557927 rs1343140353 RCV001257319	218	W>C	Sensorineural hearing loss disorder Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000150046 rs370270828 CA174016 VAR_072710	223	R>W	Cerebellar-facial-dental syndrome CFDS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs606231416 RCV001267205 VAR_072711 CA174012 RCV000150043	226	S>L	Cerebellar-facial-dental syndrome Inborn genetic diseases CFDS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
rs373957300 RCV000150044 RCV001365019 VAR_072712 RCV002515997 CA174014	259	T>M	Cerebellar-facial-dental syndrome Inborn genetic diseases CFDS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs1595325674 CA391172300 RCV000850534	260	L>P	Cerebellar-facial-dental syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000150045 VAR_072713 CA174018 rs606231450	292	P>H	Cerebellar-facial-dental syndrome CFDS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
RCV000850533 rs868673013	533	K>missing	Cerebellar-facial-dental syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV002470812 rs188142316 CA249371 RCV002517349 RCV000203170	565	A>S	Cerebellar-facial-dental syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA7387025 RCV001328844 RCV002546279 rs770411283	572	R>G	Cerebellar-facial-dental syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1245167131 CA391187618	3	G>S		No	ClinGen TOPMed gnomAD
CA391187606 rs1204768321	4	R>C		No	ClinGen gnomAD
CA391187507 rs1325267855	7	R>C		No	ClinGen TOPMed
CA7388244 rs763121572	8	G>D		No	ClinGen ExAC TOPMed gnomAD
CA391187432 rs1440089858	10	G>S		No	ClinGen TOPMed
rs1443924607 CA391187392	11	G>D		No	ClinGen gnomAD
CA266513461 rs587752262	12	T>A		No	ClinGen 1000Genomes
CA7388243 rs746223336	12	T>M		No	ClinGen ExAC TOPMed gnomAD
CA391187306 rs1395036505	14	I>V		No	ClinGen TOPMed gnomAD
rs1290344105 CA391187267	15	E>Q		No	ClinGen gnomAD
CA7388242 rs770073200	17	D>E		No	ClinGen ExAC gnomAD
TCGA novel	17	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391187162 rs1158166346	19	A>V		No	ClinGen gnomAD
rs1437882755 CA391187067	22	D>E		No	ClinGen TOPMed gnomAD
CA391186955 rs1184475904	27	A>T		No	ClinGen gnomAD
rs1441994563 CA391186944	27	A>V		No	ClinGen gnomAD
rs201800759 CA266513446	28	C>*		No	ClinGen Ensembl
rs1415437840 CA391186826	34	D>G		No	ClinGen TOPMed
CA391186812 rs1360999911	35	N>D		No	ClinGen gnomAD
rs771740040 CA266513443	35	N>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs771740040 CA7388239	35	N>S		No	ClinGen ExAC TOPMed gnomAD
CA391186767 rs1243617468	36	I>N		No	ClinGen gnomAD
rs1050882461 CA266513437	37	I>V		No	ClinGen TOPMed gnomAD
CA7388237 rs778814328	40	E>V		No	ClinGen ExAC TOPMed gnomAD
CA7388236 rs754962176	41	V>M		No	ClinGen ExAC gnomAD
rs1566878460 CA391186588	42	Q>L		No	ClinGen Ensembl
CA266513433 rs587639646	46	S>G		No	ClinGen 1000Genomes TOPMed gnomAD
rs1426430844 CA391186480	47	S>G		No	ClinGen gnomAD
CA391186449 rs1422254753	48	G>S		No	ClinGen TOPMed gnomAD
rs748734610 CA7388235	50	G>V		No	ClinGen ExAC TOPMed gnomAD
rs779547907 CA7388233	51	S>F		No	ClinGen ExAC TOPMed gnomAD
CA391186368 rs1472627627 RCV000591631	52	S>L		No	ClinGen ClinVar dbSNP gnomAD
CA266513428 rs779238570	54	V>M		No	ClinGen TOPMed gnomAD
CA391186266 rs1262856470	56	Q>K		No	ClinGen gnomAD
rs1291885644 CA391186180	59	S>F		No	ClinGen gnomAD
rs960885531 CA266513427	60	L>P		No	ClinGen Ensembl
CA391186131 rs1208711227	62	G>S		No	ClinGen gnomAD
CA391203882 rs1471142941	63	A>G		No	ClinGen gnomAD
TCGA novel	63	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391203858 rs1160679859	64	G>D		No	ClinGen TOPMed
rs1347287529 CA391203873	64	G>S		No	ClinGen Ensembl
rs779492867 CA391203820	66	T>I		No	ClinGen ExAC TOPMed gnomAD
rs779492867 CA7388215	66	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1595467848 CA391203830	66	T>P		No	ClinGen Ensembl
rs587741849 CA7388214	67	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391203719 rs1205387915	71	G>D		No	ClinGen TOPMed gnomAD
rs778312875 CA7388209	72	G>D		No	ClinGen ExAC gnomAD
CA7388210 rs751916363	72	G>S		No	ClinGen ExAC TOPMed gnomAD
CA266534351 rs968751056	73	F>I		No	ClinGen TOPMed gnomAD
CA7388208 rs758925705	73	F>Y		No	ClinGen ExAC gnomAD
rs144673138 CA7388207 RCV000886876	75	V>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1454745609 CA391203596	77	L>M		No	ClinGen gnomAD
rs759527043 CA7388205	80	E>K		No	ClinGen ExAC TOPMed gnomAD
rs892408346 CA266534322	81	S>L	Variant assessed as Somatic; 4.66e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs754004772 CA7388204	81	S>T		No	ClinGen ExAC gnomAD
rs892408346 CA391203491	81	S>W		No	ClinGen TOPMed gnomAD
CA391203474 rs1438513083	82	R>G		No	ClinGen gnomAD
rs774096096 CA7388201	83	A>V		No	ClinGen ExAC gnomAD
CA391203436 rs1483336295	84	Q>*		No	ClinGen gnomAD
CA266534310 rs776644212	85	T>I		No	ClinGen Ensembl
CA7388200 rs768466032	87	Q>*		No	ClinGen ExAC gnomAD
rs367890914 CA7388168	90	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1172789693 CA391200451	90	R>S		No	ClinGen TOPMed
rs773225381 CA7388167	91	R>C		No	ClinGen ExAC gnomAD
CA7388166 rs200351753	91	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA391200434 rs1433138813	92	H>D		No	ClinGen TOPMed
rs750572106 CA7388165	93	I>M		No	ClinGen ExAC gnomAD
CA391200403 rs1595440575	94	H>Y		No	ClinGen Ensembl
rs1218406568 CA391200391	95	H>Q		No	ClinGen gnomAD
CA391200372 rs1387807961	98	N>K		No	ClinGen gnomAD
CA391200364 rs1287411451	99	Q>H		No	ClinGen TOPMed
CA391200319 rs1361328065	106	C>R		No	ClinGen TOPMed
rs1387477651 CA391200317	106	C>Y		No	ClinGen TOPMed
rs1400567464 CA391200293	110	A>T		No	ClinGen gnomAD
rs765101934 CA7388161	112	N>I		No	ClinGen ExAC TOPMed gnomAD
CA7388159 rs776600411	116	M>T		No	ClinGen ExAC gnomAD
CA391200221 rs1233947648	117	A>T		No	ClinGen TOPMed
CA266528713 rs867134897	117	A>V		No	ClinGen Ensembl
rs760245832 CA7388157 COSM1300445	118	V>M	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA7388156 rs772857628	119	S>N		No	ClinGen ExAC gnomAD
CA391200173 rs1189537251	121	H>N		No	ClinGen gnomAD
rs1595440371 CA391200145	123	T>P		No	ClinGen Ensembl
rs199564741 CA7388154	124	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1198471192 CA391200120	124	R>H		No	ClinGen TOPMed gnomAD
CA391200116 rs1198471192	124	R>L		No	ClinGen TOPMed gnomAD
rs200491359 CA7388152	125	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391200102 rs1364184603	126	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA391200067 rs1312110330	129	A>P		No	ClinGen gnomAD
TCGA novel	129	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749659821 CA7388151	130	H>R		No	ClinGen ExAC gnomAD
rs201048924 CA7388149	131	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770032316 CA266528692	133	A>V		No	ClinGen Ensembl
rs1016519738 CA266528689	137	Y>*		No	ClinGen TOPMed
CA7388147 rs781256116	138	L>P		No	ClinGen ExAC TOPMed gnomAD
CA391199926 rs1441600529	140	C>G		No	ClinGen gnomAD
CA7388144 rs138790972	141	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391199908 rs138790972	141	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754797281 CA7388143	142	T>M		No	ClinGen ExAC gnomAD
CA391199871 rs1258770816	144	G>D		No	ClinGen gnomAD
CA391199855 rs1201383048	145	T>M		No	ClinGen gnomAD
rs1219364193	146	P>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA7388141 rs766358291	146	P>L		No	ClinGen ExAC TOPMed gnomAD
COSM1587274 CA266528675 rs1044258239	147	H>Y	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs762517054 CA7388116	149	L>I		No	ClinGen ExAC gnomAD
CA7388114 rs765614268	153	S>N		No	ClinGen ExAC gnomAD
rs1595402421 CA391194888	154	D>A		No	ClinGen Ensembl
CA7388112 rs777117046	154	D>N		No	ClinGen ExAC TOPMed gnomAD
CA391194811 rs1208875942	157	Q>R		No	ClinGen gnomAD
rs1303242983 CA391192565	160	V>A		No	ClinGen TOPMed
rs750860515 CA7388052	162	V>L		No	ClinGen ExAC gnomAD
CA7388053 rs750860515	162	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1566838831 CA391192491	165	K>Q		No	ClinGen Ensembl
CA391192466 rs1424019348	166	T>M		No	ClinGen TOPMed gnomAD
CA391192454 rs1419413708	167	F>L		No	ClinGen gnomAD
rs1267637092 CA391192403	170	L>S		No	ClinGen TOPMed
rs1417529061 CA391192368	172	R>I		No	ClinGen gnomAD
rs1192983931 CA391192359	173	E>K		No	ClinGen TOPMed gnomAD
CA391192313 rs1252287401	175	C>S		No	ClinGen TOPMed
rs764292906 CA7388048	178	A>S		No	ClinGen ExAC gnomAD
CA7388046 rs775546215	179	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA391192232 rs775546215	179	P>R		No	ClinGen ExAC TOPMed gnomAD
CA266515714 rs963629957	179	P>T		No	ClinGen TOPMed gnomAD
rs866491568 CA266515706	180	A>V		No	ClinGen Ensembl
rs760527043 CA391178658 CA7387635	182	D>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	182	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA266515698 rs986944444	182	D>N		No	ClinGen TOPMed
rs1056689926 CA391178651	183	P>A		No	ClinGen TOPMed gnomAD
rs1206689613 CA391178630	183	P>L		No	ClinGen gnomAD
CA391178636 rs1206689613	183	P>R		No	ClinGen gnomAD
rs1056689926 CA266507799	183	P>T		No	ClinGen TOPMed gnomAD
rs1463895752 CA391178613	184	C>F		No	ClinGen TOPMed
CA7387632 rs761318583	184	C>W		No	ClinGen ExAC gnomAD
rs768374361 CA7387630	185	L>Q		No	ClinGen ExAC gnomAD
rs1231074391 CA391178579	186	Y>D		No	ClinGen TOPMed gnomAD
CA391178583 rs1231074391	186	Y>H		No	ClinGen TOPMed gnomAD
CA391178552 rs1312890175	187	I>V		No	ClinGen TOPMed
CA7387626 rs587674292	188	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA391178499 rs1380995883	189	R>C		No	ClinGen gnomAD
COSM3814364 CA7387625 rs777141032	189	R>H	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs747074989 CA7387623	190	F>I		No	ClinGen ExAC
CA391178469 rs777689168	191	A>P		No	ClinGen ExAC TOPMed gnomAD
CA7387622 rs777689168	191	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1383009789 CA391178460	191	A>V		No	ClinGen TOPMed gnomAD
CA391178447 rs1389294140	192	H>R		No	ClinGen gnomAD
rs149525559 CA266507798	192	H>Y		No	ClinGen ESP TOPMed gnomAD
rs1186639014 CA391178411	194	L>Q		No	ClinGen gnomAD
TCGA novel	195	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201913661 CA7387619	195	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs201913661 CA7387618	195	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1047774060 CA266507796	197	G>R		No	ClinGen TOPMed
CA7387616 rs767448415	198	E>K		No	ClinGen ExAC TOPMed gnomAD
CA391178284 rs1381401661	200	N>K		No	ClinGen gnomAD
CA391178279 rs1566823324	201	H>D		No	ClinGen Ensembl
rs763667067 COSM1133436 CA7387614	202	E>K	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs763667067 CA7387613	202	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA7387610 rs764998019	204	S>A		No	ClinGen ExAC gnomAD
CA266507794 rs61741518	204	S>F		No	ClinGen Ensembl
CA266507792 rs1040727348	205	M>I		No	ClinGen Ensembl
CA391178203 rs776894824	205	M>L		No	ClinGen ExAC TOPMed gnomAD
CA266507793 rs923200396	205	M>T		No	ClinGen Ensembl
CA7387608 rs776894824	205	M>V		No	ClinGen ExAC TOPMed gnomAD
CA7387607 rs771423682	206	T>P		No	ClinGen ExAC gnomAD
rs1429962476 CA391178168	207	A>P		No	ClinGen gnomAD
CA391178170 rs1429962476	207	A>T		No	ClinGen gnomAD
rs1165925382 CA391178152	208	L>V		No	ClinGen gnomAD
CA266507791 rs910386210	209	R>K		No	ClinGen Ensembl
rs1198030611 CA391178118	210	L>F		No	ClinGen gnomAD
CA391178105 rs1266832350	211	L>R		No	ClinGen gnomAD
rs368844889 CA7387600	213	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA391178075 rs1432386704	213	R>S		No	ClinGen TOPMed
rs368844889 CA7387601	213	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs779038914 CA7387602	213	R>W		No	ClinGen ExAC gnomAD
rs780827424 CA7387599	214	M>T		No	ClinGen ExAC gnomAD
CA266507790 rs913549604	215	K>N		No	ClinGen TOPMed
rs1347530018 CA391178023	215	K>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7387598 rs757115243	216	R>P		No	ClinGen ExAC TOPMed gnomAD
CA391178005 rs1018742474	216	R>W		No	ClinGen TOPMed gnomAD
CA266507788 rs985961880	217	D>N		No	ClinGen TOPMed
rs751448117 CA7387597	219	M>I		No	ClinGen ExAC gnomAD
CA391177881 rs1410112614	220	H>Q		No	ClinGen gnomAD
rs374448512 CA7387596	221	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391177868 rs1326365827	221	T>I		No	ClinGen gnomAD
CA7387595 rs757925995	222	G>D		No	ClinGen ExAC gnomAD
CA266507787 rs960682350	222	G>S		No	ClinGen TOPMed gnomAD
rs1171973014 CA391177829	223	R>Q		No	ClinGen gnomAD
rs878910025 CA266507786	224	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7387593 rs759137877	224	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1232554749 CA391177777	225	P>H		No	ClinGen TOPMed gnomAD
rs1003577469 CA266507785	226	S>P		No	ClinGen Ensembl
rs1322016947 CA391177731	227	G>D		No	ClinGen TOPMed gnomAD
CA7387587 rs761839348	227	G>S		No	ClinGen ExAC TOPMed gnomAD
rs774447444 CA391177709	228	L>F		No	ClinGen ExAC TOPMed gnomAD
CA266507783 rs1006281657	228	L>P		No	ClinGen Ensembl
rs774447444 CA7387586	228	L>V		No	ClinGen ExAC TOPMed gnomAD
rs140813617 CA391177677	229	C>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1334472313 CA391177689	229	C>R		No	ClinGen TOPMed
rs778146369 CA266507782	229	C>Y		No	ClinGen Ensembl
rs780380442 CA7387583	230	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA391177645 rs1455224138	231	A>T		No	ClinGen TOPMed
CA7387515 rs758735678 COSM1477403	232	A>V	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	233	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765848072 CA7387513	233	L>V		No	ClinGen ExAC gnomAD
rs765768932 CA391173131	235	V>F		No	ClinGen TOPMed
rs765768932 CA266507054	235	V>I		No	ClinGen TOPMed
rs753997223 CA7387511	236	A>T		No	ClinGen ExAC gnomAD
rs750662507 CA7387508	237	A>G		No	ClinGen ExAC gnomAD
CA7387507 rs763937027	238	R>G		No	ClinGen ExAC gnomAD
rs1371715589 CA391173042	238	R>T		No	ClinGen TOPMed gnomAD
CA7387506 CA391173000 rs762722957	239	M>I		No	ClinGen ExAC TOPMed gnomAD
CA266507053 rs769311991	239	M>V		No	ClinGen Ensembl
CA7387505 rs775431304	240	H>Q		No	ClinGen ExAC
CA266507052 rs370062840	240	H>Y		No	ClinGen ESP TOPMed gnomAD
CA266507051 rs1002256447	241	D>E		No	ClinGen TOPMed gnomAD
rs769736138 CA7387504	241	D>G		No	ClinGen ExAC
rs1405996666 CA391172930	241	D>Y		No	ClinGen gnomAD
rs1566817174 CA391172861	242	F>I		No	ClinGen Ensembl
CA7387501 rs587707880	243	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA7387500 rs61743597	243	R>S		No	ClinGen ExAC gnomAD
CA7387499 rs746649045	244	R>K		No	ClinGen ExAC gnomAD
CA391172761 rs1415764640	244	R>S		No	ClinGen TOPMed gnomAD
CA391172713 rs1182244527	245	T>I		No	ClinGen TOPMed gnomAD
CA391172722 rs1182244527	245	T>S		No	ClinGen TOPMed gnomAD
rs587656581 CA391172702	246	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs587656581 CA7387497	246	V>M		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	247	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145711250 CA7387494	248	E>D		No	ClinGen ExAC TOPMed gnomAD
CA266507049 rs1018441033	248	E>G		No	ClinGen Ensembl
rs1595326275 CA391172634	248	E>Q		No	ClinGen Ensembl
rs200622361 CA391172551	249	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200622361 CA7387493	249	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780260950 CA7387490	250	I>M		No	ClinGen ExAC gnomAD
CA7387492 rs1315367857	250	I>N		No	ClinGen gnomAD
CA391172515 rs756206546	251	S>C		No	ClinGen ExAC gnomAD
CA7387489 rs756206546	251	S>G		No	ClinGen ExAC gnomAD
CA7387487 rs769396533	251	S>I		No	ClinGen ExAC TOPMed gnomAD
rs769396533 CA391172511	251	S>N		No	ClinGen ExAC TOPMed gnomAD
rs748521815 CA266507047	251	S>R		No	ClinGen TOPMed gnomAD
CA7387488 rs769396533	251	S>T		No	ClinGen ExAC TOPMed gnomAD
CA7387484 rs765117516	253	V>A		No	ClinGen ExAC gnomAD
CA7387483 rs776597244	254	K>N		No	ClinGen ExAC TOPMed gnomAD
CA391172404 rs1351290589	255	V>A		No	ClinGen TOPMed gnomAD
rs773305573 CA7387478	256	C>*		No	ClinGen ExAC TOPMed gnomAD
CA7387480 rs760166609	256	C>R		No	ClinGen ExAC gnomAD
rs186639069 CA266507038	256	C>Y		No	ClinGen 1000Genomes gnomAD
TCGA novel	257	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771649813 CA391172354	257	E>D		No	ClinGen ExAC TOPMed gnomAD
CA7387474 rs769193575	259	T>A		No	ClinGen ExAC gnomAD
CA7387475 rs769193575	259	T>P		No	ClinGen ExAC gnomAD
CA7387472 rs756152891	260	L>V		No	ClinGen ExAC TOPMed gnomAD
rs151290358 CA7387469	261	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA391172284 rs781426397	261	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1232769838 CA391172267	262	K>E		No	ClinGen TOPMed
CA391172243 rs1252355202	262	K>N		No	ClinGen TOPMed
rs1481925834 CA391172228	263	R>K		No	ClinGen TOPMed
CA391199391 rs1262648781	264	L>I		No	ClinGen TOPMed
rs1397499816 CA391199375	265	T>M		No	ClinGen gnomAD
TCGA novel	267	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1595307710 CA391199328	270	T>P		No	ClinGen Ensembl
rs896756305 CA266556190	272	T>I		No	ClinGen Ensembl
CA391199300 rs1427255961	273	S>G		No	ClinGen gnomAD
rs1160582878 CA391199277	274	Q>H		No	ClinGen TOPMed gnomAD
TCGA novel	275	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7387425 rs779694890	277	I>V		No	ClinGen ExAC gnomAD
CA391199218 rs1465825363	279	E>D		No	ClinGen TOPMed
rs1040704365 CA266556180	279	E>K		No	ClinGen TOPMed
CA266556177 rs1056624433	280	F>Y		No	ClinGen Ensembl
rs1180120530 CA391199200	281	M>L		No	ClinGen TOPMed gnomAD
CA7387423 rs750324879	281	M>T		No	ClinGen ExAC gnomAD
rs781194314 COSM1640026 CA7387422	282	K>N	stomach [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA391199171 rs587663572	283	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7387421 rs756769788	283	I>S		No	ClinGen ExAC
rs763799830 CA391199169	284	D>H		No	ClinGen ExAC TOPMed gnomAD
CA7387419 rs763799830	284	D>N		No	ClinGen ExAC TOPMed gnomAD
CA391199125 rs1349520617	287	E>D		No	ClinGen gnomAD
CA391199118 rs1277340098	288	E>V		No	ClinGen TOPMed gnomAD
CA266556167 rs943704083	289	C>R		No	ClinGen TOPMed gnomAD
rs1595307447 CA391199095	290	D>A		No	ClinGen Ensembl
CA391199091 rs760010212	290	D>E		No	ClinGen ExAC TOPMed gnomAD
rs371691984 CA7387416	290	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1450353048 CA391199084	291	P>S		No	ClinGen TOPMed gnomAD
CA7387413 rs771437051	292	P>A		No	ClinGen ExAC TOPMed gnomAD
CA391199073 rs606231450	292	P>R		No	ClinGen TOPMed gnomAD
rs771437051 CA266556155	292	P>T		No	ClinGen ExAC TOPMed gnomAD
rs747435524	293	S>L	Variant assessed as Somatic; 4.638e-05 impact. [NCI-TCGA]	No	NCI-TCGA
CA7387409 rs773768880	293	S>L		No	ClinGen ExAC TOPMed gnomAD
CA391199039 rs1566813460	295	T>A		No	ClinGen Ensembl
CA391199030 rs1160212466	296	A>P		No	ClinGen TOPMed
rs1183582109 CA391199023	296	A>V		No	ClinGen gnomAD
rs769409927 CA7387406	299	R>K		No	ClinGen ExAC TOPMed gnomAD
rs769409927 CA391198995	299	R>T		No	ClinGen ExAC TOPMed gnomAD
rs1404991637 CA391198965	301	L>V		No	ClinGen TOPMed
rs145340613 CA7387402	302	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7387403 rs757290383	302	R>W		No	ClinGen ExAC TOPMed gnomAD
CA7387401 rs777398484	305	Q>P		No	ClinGen ExAC gnomAD
rs587763042 CA7387368 COSM1140460	306	L>F	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA266555834 rs991976032	307	E>Q		No	ClinGen TOPMed
rs1374120474 CA391198888	308	Q>K		No	ClinGen TOPMed
CA266555825 rs937916073	309	V>A		No	ClinGen TOPMed gnomAD
rs773221690 CA7387367	309	V>I		No	ClinGen ExAC gnomAD
rs1376060032 CA391198863	312	K>E		No	ClinGen gnomAD
rs747568065 CA7387365	313	K>I		No	ClinGen ExAC gnomAD
rs1441852162 CA391198852	313	K>N		No	ClinGen TOPMed gnomAD
TCGA novel	313	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA266555818 rs748853809	315	E>Q		No	ClinGen Ensembl
CA391198835 rs1005708584	316	E>A		No	ClinGen TOPMed
rs1353301993 CA391198833	316	E>D		No	ClinGen gnomAD
rs1005708584 CA266555815	316	E>V		No	ClinGen TOPMed
CA391198831 rs1595304804	317	V>I		No	ClinGen Ensembl
rs778467508 CA7387364	318	E>K		No	ClinGen ExAC
TCGA novel	319	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1186850694 CA391198791	321	I>V		No	ClinGen TOPMed
CA266555745 rs376099538	322	S>F		No	ClinGen ESP
rs1172435406 CA391198779	323	S>G		No	ClinGen Ensembl
rs1443948255 CA391198774	323	S>R		No	ClinGen gnomAD
CA7387343 rs373442568	323	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7387342 rs745560902	326	D>N		No	ClinGen ExAC gnomAD
CA266555734 rs752212809	327	A>T		No	ClinGen Ensembl
rs866457833 CA266555732	328	I>T		No	ClinGen Ensembl
rs1479121773 CA391198743	328	I>V		No	ClinGen TOPMed
CA7387341 RCV000920598 rs145719901	329	E>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA391198737 rs1486861999	329	E>Q		No	ClinGen gnomAD
rs1566812484 CA391198729	330	I>F		No	ClinGen Ensembl
CA391198716 rs1470485854	332	L>I		No	ClinGen TOPMed
CA391198686 TCGA novel rs1247096867	335	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
CA266555717 rs925890336	336	R>Q		No	ClinGen TOPMed gnomAD
CA7387338 rs149785516	336	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs758490702 CA391198680	337	P>S		No	ClinGen ExAC TOPMed gnomAD
rs758490702 CA7387337	337	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1417478023 CA391198664	339	A>T		No	ClinGen gnomAD
rs1366991609 CA391198647	340	K>Q		No	ClinGen gnomAD
CA7387334 rs199596634	341	G>A		No	ClinGen ExAC gnomAD
CA391198628 rs199596634	341	G>E		No	ClinGen ExAC gnomAD
rs369278268 CA266555702	341	G>R		No	ClinGen ESP
CA7387332 rs767342305	342	G>D		No	ClinGen ExAC gnomAD
CA391198616 rs767342305	342	G>V		No	ClinGen ExAC gnomAD
CA391198596 rs1430424462	344	A>V		No	ClinGen gnomAD
CA266555690 rs139784804	345	S>N		No	ClinGen ESP
TCGA novel	349	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391197986 rs1426380353	350	G>A		No	ClinGen TOPMed
CA391197987 rs1426380353	350	G>D		No	ClinGen TOPMed
rs1301043226 CA391197977	352	T>A		No	ClinGen TOPMed
rs775463298 CA7387310	353	E>K		No	ClinGen ExAC TOPMed gnomAD
CA391197956 rs1595283319	355	T>P		No	ClinGen Ensembl
rs776287971 CA391197948	356	A>G		No	ClinGen ExAC TOPMed gnomAD
rs138987370 CA7387308	356	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776287971 CA7387307	356	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1373354612 CA391197940	358	S>G		No	ClinGen gnomAD
rs61745396 CA7387305	358	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1220768092 CA391197915	361	G>A		No	ClinGen TOPMed
CA391197918 rs1566807418	361	G>R		No	ClinGen Ensembl
CA266553478 rs772610328	362	E>*		No	ClinGen ExAC gnomAD
CA391197908 rs374522314	362	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs772610328 CA7387303	362	E>K		No	ClinGen ExAC gnomAD
CA7387301 rs779570752	363	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1184465532 CA391197898	364	D>N		No	ClinGen gnomAD
rs56294785 CA266553471	366	E>Q		No	ClinGen TOPMed gnomAD
TCGA novel	367	D>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	367	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391197877 rs1595283097	367	D>Y		No	ClinGen Ensembl
CA7387299 rs56397863	368	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs376648039 CA7387298	369	E>D		No	ClinGen ESP ExAC gnomAD
rs1385842432 CA391197860	369	E>G		No	ClinGen TOPMed
CA391197853 rs1595283052	370	L>R		No	ClinGen Ensembl
rs889517414 CA266553456	371	E>K		No	ClinGen TOPMed
CA391197841 rs1202424876	372	A>G		No	ClinGen gnomAD
CA7387297 rs142641074	373	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7387296 rs142641074	373	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs763864881 CA7387295	373	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA391197833 rs1441625710	374	A>V		No	ClinGen TOPMed
CA391197829 rs1307039907	375	S>G		No	ClinGen gnomAD
CA7387292 rs373698699	375	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7387291 rs370406922	376	H>R		No	ClinGen ESP ExAC gnomAD
CA391197799 rs1413939556	379	K>R		No	ClinGen gnomAD
TCGA novel	379	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765951217 CA7387289	380	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1320262621 CA391197779	382	Y>D		No	ClinGen TOPMed gnomAD
COSM1607427 CA391197780 rs1320262621	382	Y>H	liver [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA391197772 rs1454671489	383	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7387288 rs377536607	383	R>W		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs772501736 CA7387286	385	L>F		No	ClinGen ExAC TOPMed gnomAD
rs587772315 RCV000904372	388	G>missing		No	ClinVar dbSNP
rs748541228 CA7387285	388	G>S		No	ClinGen ExAC TOPMed gnomAD
CA7387279 rs756277480	391	G>A		No	ClinGen ExAC gnomAD
CA7387280 rs756277480	391	G>D		No	ClinGen ExAC gnomAD
rs373909035 CA7387282	391	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373909035 CA7387281	391	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391197726 rs756277480	391	G>V		No	ClinGen ExAC gnomAD
CA7387276 rs368792547	393	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7387277 rs368792547	393	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs765115185 CA7387274	396	A>S		No	ClinGen ExAC gnomAD
rs765913603 CA266553389	396	A>V		No	ClinGen TOPMed
rs1314234410 CA391197686	398	S>C		No	ClinGen TOPMed gnomAD
rs1447455773 CA391197681	398	S>R		No	ClinGen TOPMed gnomAD
TCGA novel	399	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7387272 rs753860259	400	E>K		No	ClinGen ExAC TOPMed gnomAD
CA391197663 rs1360072655	401	W>*		No	ClinGen TOPMed gnomAD
rs757884349 CA7387271	401	W>R		No	ClinGen ExAC TOPMed gnomAD
rs760239261 CA7387270	401	W>S		No	ClinGen ExAC gnomAD
rs146262464 CA266553383	402	G>C		No	ClinGen ESP TOPMed gnomAD
rs146262464 CA266553384	402	G>S		No	ClinGen ESP TOPMed gnomAD
rs1396696286 CA391197652	402	G>V		No	ClinGen gnomAD
rs767304692 CA7387268	403	G>S		No	ClinGen ExAC TOPMed gnomAD
CA391197641 rs1595282444	404	R>S		No	ClinGen Ensembl
rs1451101973 CA391197644	404	R>T		No	ClinGen TOPMed
CA391197635 rs774826544	405	P>L		No	ClinGen ExAC TOPMed gnomAD
rs774826544 CA7387266	405	P>R		No	ClinGen ExAC TOPMed gnomAD
rs764832274 CA7387265	406	P>L		No	ClinGen ExAC TOPMed gnomAD
CA391197627 rs1193523778	407	A>T		No	ClinGen TOPMed gnomAD
rs776134188 CA7387263	408	L>V		No	ClinGen ExAC TOPMed gnomAD
CA391197606 rs1359858914	410	S>F		No	ClinGen gnomAD
CA7387262 rs769694291	410	S>T		No	ClinGen ExAC gnomAD
CA391197591 rs1595282352	413	D>A		No	ClinGen Ensembl
rs914734429 CA266553353	413	D>E		No	ClinGen TOPMed
CA391197582 rs781342971	414	P>A		No	ClinGen ExAC gnomAD
CA7387259 rs771169144	414	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA266553349 rs771169144	414	P>R		No	ClinGen ExAC TOPMed gnomAD
CA7387260 rs781342971	414	P>S		No	ClinGen ExAC gnomAD
CA391197567 rs1272018075	415	L>F		No	ClinGen gnomAD
rs138505320 CA7387258	416	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7387256 rs754858305	418	A>S		No	ClinGen ExAC TOPMed gnomAD
CA391197532 rs754858305	418	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	422	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1447477202 CA391197489	422	G>R		No	ClinGen TOPMed
CA7387253 rs143878116	425	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA266553323 rs376686999	428	R>C		No	ClinGen ESP TOPMed gnomAD
rs587734150 CA7387251	428	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1020302194 CA266553315	429	E>*		No	ClinGen TOPMed gnomAD
rs1020302194 CA391197389	429	E>K		No	ClinGen TOPMed gnomAD
CA391197343 rs1219041748	432	S>P		No	ClinGen gnomAD
CA7387249 rs751315824	435	S>I		No	ClinGen ExAC gnomAD
CA391197300 rs751315824	435	S>N		No	ClinGen ExAC gnomAD
CA391197283 rs1273587534	436	S>T		No	ClinGen gnomAD
CA7387247 rs373313979	437	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA7387245 rs373313979	437	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA7387246 rs373313979	437	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	438	P>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391197267 rs1595282005	438	P>T		No	ClinGen Ensembl
CA7387244 rs759572410	439	K>Q		No	ClinGen ExAC gnomAD
CA7387216 rs756767517	440	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1385091601 CA391196511	440	D>N		No	ClinGen TOPMed gnomAD
rs1237159568 CA391196484	441	A>V		No	ClinGen gnomAD
CA7387214 rs777250460	445	G>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	447	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7387213 rs758037474	448	D>G		No	ClinGen ExAC gnomAD
rs1239793063 CA391196209	451	G>C		No	ClinGen gnomAD
CA391196215 rs1239793063	451	G>S		No	ClinGen gnomAD
rs752337983 CA7387212	451	G>V		No	ClinGen ExAC gnomAD
CA266552503 rs1036196706	452	I>V		No	ClinGen Ensembl
rs1400157627 CA391196183	453	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1400157627 CA391196184	453	D>N		No	ClinGen TOPMed
CA7387211 rs765617683	454	D>E		No	ClinGen ExAC gnomAD
CA391196129 rs1566804710	456	E>A		No	ClinGen Ensembl
CA7387210 rs755399571	457	I>M		No	ClinGen ExAC gnomAD
CA391196098 rs1377764746	457	I>S		No	ClinGen gnomAD
CA391196075 rs1299511716	459	R>T		No	ClinGen TOPMed
rs1333350668 CA391195514	461	I>L		No	ClinGen TOPMed
CA7387152 rs781693558	463	N>S		No	ClinGen ExAC gnomAD
rs777982660 CA7387149	468	R>C		No	ClinGen ExAC gnomAD
rs777982660 CA7387150	468	R>G		No	ClinGen ExAC gnomAD
CA7387148 rs758618155	468	R>H		No	ClinGen ExAC gnomAD
CA391195320 rs758618155	468	R>L		No	ClinGen ExAC gnomAD
CA266551917 rs587665642 COSM1133435	469	V>M	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA gnomAD
rs765389823 CA7387146	471	A>S		No	ClinGen ExAC gnomAD
rs750155382 CA7387144	472	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7387143 rs767395481	473	L>P		No	ClinGen ExAC gnomAD
rs1444719760 CA391195051	479	A>T		No	ClinGen gnomAD
rs1335183362 CA391195014	480	E>*		No	ClinGen gnomAD
rs984424260 CA266551895	480	E>D		No	ClinGen TOPMed
CA391195022 rs1335183362	480	E>K		No	ClinGen gnomAD
CA391195020 rs1335183362	480	E>Q		No	ClinGen gnomAD
rs775078603 CA7387138	483	R>G		No	ClinGen ExAC TOPMed gnomAD
rs138486604 CA7387137	483	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs775078603 CA7387139	483	R>W		No	ClinGen ExAC TOPMed gnomAD
CA266551798 rs748715266	487	E>D		No	ClinGen ExAC gnomAD
CA7387111 rs772736621	487	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1566803347 CA391194863	487	E>K		No	ClinGen Ensembl
CA391194745 rs772736621	487	E>V		No	ClinGen ExAC TOPMed gnomAD
CA266551795 rs370180074	488	K>E		No	ClinGen gnomAD
CA7387109 rs778847334	490	A>G		No	ClinGen ExAC gnomAD
CA391194646 rs1566803055	492	I>T		No	ClinGen Ensembl
rs1340049804 CA391194659	492	I>V		No	ClinGen gnomAD
rs147106237 CA391194635	493	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs768847257 CA7387108	493	A>P		No	ClinGen ExAC gnomAD
rs768847257 CA391194641	493	A>T		No	ClinGen ExAC gnomAD
rs147106237 CA7387107	493	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1010088936 CA266551784	494	K>E		No	ClinGen TOPMed
CA7387105 rs757001528	495	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7387104 rs34254291	497	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1260915920 CA391194529	498	L>F		No	ClinGen TOPMed
rs200287805 CA7387101	499	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA391194492 rs758305859	499	G>R		No	ClinGen ExAC TOPMed gnomAD
rs758305859 CA7387102	499	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1393535600 CA391194486	500	I>V		No	ClinGen TOPMed
CA391194383 rs1347107682	505	K>Q		No	ClinGen TOPMed
CA391193935 rs1331981866	506	P>T		No	ClinGen TOPMed gnomAD
CA7387068 rs776839032	507	K>R		No	ClinGen ExAC gnomAD
CA7387067 rs747996320	510	C>G		No	ClinGen ExAC TOPMed gnomAD
CA7387066 rs747996320	510	C>R		No	ClinGen ExAC TOPMed gnomAD
CA391193866 rs1595262472	511	K>R		No	ClinGen Ensembl
CA391193856 rs1183617977	512	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA391193852 rs749231735	512	R>L		No	ClinGen ExAC gnomAD
CA7387063 rs749231735	512	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA391193850 rs1237080721	513	R>G		No	ClinGen gnomAD
rs371669872 CA7387062	513	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1368682 CA391193849 rs1237080721	513	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA391193821 rs1373866612	516	I>V		No	ClinGen TOPMed
rs1489457427 CA391193811	517	Q>E		No	ClinGen gnomAD
rs755690704 CA7387061	518	A>T		No	ClinGen ExAC
CA266550958 rs773655999	520	T>S		No	ClinGen Ensembl
rs1315588255 CA391193765 COSM1152693	521	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA391193751 rs1435396451	522	R>K		No	ClinGen TOPMed
CA391193736 rs1305139622	523	E>A		No	ClinGen TOPMed
rs1363122742 CA391193725	524	A>T		No	ClinGen gnomAD
CA7387056 rs764418659	525	I>F		No	ClinGen ExAC gnomAD
rs1401661546 CA391193712	525	I>M		No	ClinGen TOPMed gnomAD
CA391193716 rs764418659	525	I>V		No	ClinGen ExAC gnomAD
rs1360927871 CA391193709	526	E>K		No	ClinGen gnomAD
rs1057518259 RCV000414286 CA16042930	527	K>N		No	ClinGen ClinVar Ensembl dbSNP
rs1433496551 CA391193679	528	M>I		No	ClinGen gnomAD
rs868673013	533	K>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs765229827 CA7387053	533	K>M		No	ClinGen ExAC gnomAD
TCGA novel	535	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391193570 rs1479039852	536	S>C		No	ClinGen gnomAD
CA266550929 rs200027756	536	S>N		No	ClinGen 1000Genomes
CA7387052 rs759621566	536	S>R		No	ClinGen ExAC gnomAD
rs1294916798 CA391193547	537	K>Q		No	ClinGen TOPMed
CA391193465 rs376948887	541	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs376948887 CA7387051	541	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs371981699 CA7387049 VAR_035723	542	V>M	Variant assessed as Somatic; 0.0 impact. a colorectal cancer sample; somatic mutation [NCI-TCGA, UniProt]	No	ClinGen UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA391193409 rs200784595	544	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7387047 rs200784595	544	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1566800918 CA391193401	545	G>S		No	ClinGen Ensembl
CA391193390 rs1270959342	546	L>F		No	ClinGen gnomAD
rs749184438 CA7387046	546	L>R		No	ClinGen ExAC gnomAD
rs1277337087 CA391193386	547	S>G		No	ClinGen gnomAD
CA7387043 rs745405662	549	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1393811662 CA391193344	550	G>D		No	ClinGen TOPMed gnomAD
rs751231414 CA7387041	550	G>R		No	ClinGen ExAC TOPMed gnomAD
rs751231414 CA7387040	550	G>S		No	ClinGen ExAC TOPMed gnomAD
CA391193336 rs753140640	551	G>E		No	ClinGen ExAC TOPMed gnomAD
CA7387038 rs758692793	551	G>R		No	ClinGen ExAC gnomAD
rs753140640 CA7387037	551	G>V		No	ClinGen ExAC TOPMed gnomAD
CA391193310 rs1193416914	552	G>D		No	ClinGen gnomAD
rs1427090158 CA391193282	553	S>R		No	ClinGen gnomAD
CA266550876 rs759572291	554	P>L		No	ClinGen ExAC TOPMed gnomAD
rs759572291 CA7387035	554	P>R		No	ClinGen ExAC TOPMed gnomAD
CA391193260 rs1318165701	555	H>Y		No	ClinGen TOPMed
CA266550870 rs900910330	558	D>H		No	ClinGen Ensembl
rs900910330 CA391193204	558	D>N		No	ClinGen Ensembl
rs34104348 CA266550864	559	A>V		No	ClinGen TOPMed gnomAD
rs762606375 CA266550860	560	Q>R		No	ClinGen gnomAD
rs1318191283 CA391193143	561	P>S		No	ClinGen TOPMed gnomAD
COSM1246235 rs773312664 CA7387031	562	E>K	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA391193123 rs1232489333	563	H>D		No	ClinGen TOPMed
rs768440342 CA7387030	563	H>P		No	ClinGen ExAC gnomAD
rs768440342 CA391193118	563	H>R		No	ClinGen ExAC gnomAD
CA391193093 rs1268667882	564	S>T		No	ClinGen TOPMed
rs188142316 CA266550847	565	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA266550844 rs200823645	565	A>V		No	ClinGen Ensembl
CA391193053 rs1368605129	567	A>T		No	ClinGen gnomAD
CA7387028 rs769826839	569	K>T		No	ClinGen ExAC gnomAD
CA266550839 rs1042712745	570	L>P		No	ClinGen gnomAD
rs770411283 CA7387026	572	R>*		No	ClinGen ExAC TOPMed gnomAD
CA391192963 rs746602408	572	R>L		No	ClinGen ExAC TOPMed gnomAD
rs746602408 CA266550828	572	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7387024 rs746602408 COSM1587281	572	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA266550823 rs867230883	573	R>G		No	ClinGen Ensembl
CA391192952 rs1177171163	573	R>T		No	ClinGen TOPMed gnomAD
CA391192938 rs1454226368	574	R>K		No	ClinGen TOPMed gnomAD
CA391192934 rs1454226368	574	R>T		No	ClinGen TOPMed gnomAD
rs989494665 CA266550818	575	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA7387020 rs372345375	576	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1385687561 CA391192869	578	S>G		No	ClinGen TOPMed
CA391192840 rs1288948388	579	R>K		No	ClinGen TOPMed
rs587623336 CA7387018	579	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754400436 CA7387017	580	S>T		No	ClinGen ExAC
rs1226364495 CA391192808	581	G>R		No	ClinGen TOPMed
CA266550796 rs374518014	581	G>V		No	ClinGen ESP
rs969467132 CA266550787	586	T>N		No	ClinGen Ensembl
CA7387016 rs766416241	587	S>G		No	ClinGen ExAC
CA7387015 rs370288579	587	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs370288579 CA7387014	587	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA391192732 rs370288579	587	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA391192713 rs1311335286	589	G>E		No	ClinGen TOPMed gnomAD
rs1282003814 CA391191264	594	P>R		No	ClinGen TOPMed gnomAD
rs1129274 CA7386981	594	P>S		No	ClinGen ExAC gnomAD
rs781421657 CA7386979	596	V>A		No	ClinGen ExAC gnomAD
CA391191240 rs781421657	596	V>G		No	ClinGen ExAC gnomAD
rs757420676 CA391191220	598	T>A		No	ClinGen ExAC gnomAD
CA266547482 rs144088839	598	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA7386978 rs757420676	598	T>P		No	ClinGen ExAC gnomAD
CA391191167 rs1409754308	600	P>S		No	ClinGen Ensembl
rs1595229697 CA391191139	601	A>V		No	ClinGen Ensembl
rs1400938924 CA391191093	603	K>*		No	ClinGen gnomAD
TCGA novel	605	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391191033 rs1442201105	606	T>A		No	ClinGen TOPMed gnomAD
CA391191015 rs1390813602	606	T>M		No	ClinGen TOPMed gnomAD
rs1390813602 CA391191018	606	T>R		No	ClinGen TOPMed gnomAD
rs753542257 CA7386974	608	E>Q		No	ClinGen ExAC gnomAD
rs587684940 CA7386948	609	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1163897489 CA391190713	609	A>P		No	ClinGen TOPMed
rs1280324896 CA391190674	611	L>F		No	ClinGen gnomAD
CA7386947 rs775216395	611	L>P		No	ClinGen ExAC gnomAD
rs587631691 CA7386945	613	S>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs587631691 CA7386944	613	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391190597 rs1222659078	614	S>C		No	ClinGen gnomAD
CA391190594 rs1222659078	614	S>F		No	ClinGen gnomAD
CA391190605 rs1418012598	614	S>P		No	ClinGen gnomAD
CA7386943 rs771530522	615	P>L		No	ClinGen ExAC gnomAD
CA391190588 rs1162055314	615	P>S		No	ClinGen TOPMed
rs1415235108 CA391190557	616	T>I		No	ClinGen gnomAD
rs777985024 CA7386941	617	L>F		No	ClinGen ExAC gnomAD
CA7386939 rs200441045	618	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1595225354 CA391190506	619	A>T		No	ClinGen Ensembl
CA266547072 rs918237567	620	E>*		No	ClinGen TOPMed gnomAD
CA391190493 rs918237567	620	E>Q		No	ClinGen TOPMed gnomAD
rs755827110 CA7386937	622	A>G		No	ClinGen ExAC gnomAD
CA7386936 rs750188424	623	R>G		No	ClinGen ExAC gnomAD
CA266547065 rs900012691	623	R>K		No	ClinGen Ensembl
CA266547061 rs1054510567	624	P>L		No	ClinGen TOPMed
rs1183813909 CA391190419	624	P>T		No	ClinGen gnomAD
rs1380786450 CA391190398	625	Q>R		No	ClinGen TOPMed
rs139275410 CA7386935	626	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7386934 rs146244626	626	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1261803592 CA391190350	627	V>M		No	ClinGen gnomAD
CA7386933 rs751566984	628	L>V		No	ClinGen ExAC gnomAD
rs763449903 CA7386932	630	E>K		No	ClinGen ExAC gnomAD
rs1354353528 CA391190266	631	S>N		No	ClinGen gnomAD
CA7386929 CA391190252 rs587599512	632	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777504331 CA7386926 COSM3689992	634	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7386925 rs761258238	637	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs199836794 CA7386918	639	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768902283 CA7386920	639	D>G		No	ClinGen ExAC gnomAD
CA7386921 rs369638144	639	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs377051978 CA7386917	640	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA391190102 rs1263125046	640	E>K		No	ClinGen TOPMed gnomAD
CA391190074 rs746894924	641	E>D		No	ClinGen ExAC TOPMed gnomAD
CA391190081 rs1485144260	641	E>K		No	ClinGen gnomAD
rs777792289 CA7386915	642	A>D		No	ClinGen ExAC
rs1213732385 CA391190063	642	A>S		No	ClinGen gnomAD
rs867200059 CA266547015	643	D>N		No	ClinGen Ensembl
rs1333737006 CA391190022	644	E>K		No	ClinGen TOPMed gnomAD
TCGA novel	645	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs967041522 CA266547004	645	E>G		No	ClinGen TOPMed gnomAD
TCGA novel	645	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA266546997 rs1014529944	647	P>A		No	ClinGen TOPMed
rs1294842500 CA391189879	647	P>L		No	ClinGen gnomAD
CA391189899 rs1014529944	647	P>T		No	ClinGen TOPMed
CA266546982 rs752216291	648	D>E		No	ClinGen ExAC TOPMed gnomAD
CA391189822 CA7386906 rs754661662	649	E>D		No	ClinGen ExAC TOPMed gnomAD
rs374437687 CA7386907	649	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA391189812 rs1441701111	650	E>*		No	ClinGen gnomAD
rs753610440 CA7386905	650	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1427007876 CA391189800	651	D>Y		No	ClinGen TOPMed
CA7386899 rs773543425	652	G>E		No	ClinGen ExAC gnomAD
CA7386900 rs202049411 CA7386901	652	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA266546959 rs587640821	653	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs765555953 CA266546953	654	P>L		No	ClinGen TOPMed
rs762277413 CA7386897 COSM1587283	654	P>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA7386896 rs774478565	655	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1240194313 CA391189692	656	V>I		No	ClinGen TOPMed
CA391189668 rs1260960883	657	S>I		No	ClinGen TOPMed
CA7386894 rs749448384	658	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1480722699 CA391189614	660	Q>P		No	ClinGen gnomAD
CA7386892 rs190807676	661	M>I		No	ClinGen 1000Genomes ExAC
CA7386891 rs139994197	662	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1566790749 CA391189535	662	M>T		No	ClinGen Ensembl
CA391189513 rs1313929335	663	G>S		No	ClinGen gnomAD
CA391189480 rs1304027177	664	S>N		No	ClinGen gnomAD
CA7386890 rs587679014	665	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA266546933 rs997516597	665	N>S		No	ClinGen TOPMed
CA391189428 rs1370314500	666	D>N		No	ClinGen gnomAD
CA391189176 rs1595221690	667	Y>C		No	ClinGen Ensembl
CA391189129 rs1320545704	668	G>D		No	ClinGen TOPMed
rs1296074428 CA391189121	669	C>G		No	ClinGen gnomAD
rs150636332 CA7386862	669	C>W		No	ClinGen ExAC TOPMed gnomAD
CA391189086 rs1475950756	670	D>G		No	ClinGen TOPMed gnomAD
rs763487127 CA7386859	672	D>N		No	ClinGen ExAC gnomAD
rs587727146 CA266546613	674	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA266546622 rs961496670	674	D>G		No	ClinGen TOPMed gnomAD
CA266546625 rs752747979	674	D>N		No	ClinGen ExAC TOPMed gnomAD
rs752747979 CA7386858	674	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs759797649 CA7386856	675	D>N		No	ClinGen ExAC TOPMed gnomAD
rs776720599 CA7386855	676	G>S		No	ClinGen ExAC TOPMed gnomAD
CA391188915 rs1414500747	677	Y>C		No	ClinGen TOPMed gnomAD

1 associated diseases with Q92994

[MIM: 616202]: Cerebellofaciodental syndrome (CFDS)

An autosomal recessive disorder characterized by cerebellar hypoplasia, delayed development and intellectual disability, as well as facial dysmorphic features, short stature, microcephaly, and dental anomalies. {ECO:0000269|PubMed:25561519}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive disorder characterized by cerebellar hypoplasia, delayed development and intellectual disability, as well as facial dysmorphic features, short stature, microcephaly, and dental anomalies. {ECO:0000269|PubMed:25561519}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for Q92994

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q92994

Functions

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

4 GO annotations of cellular component

Name	Definition
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.
transcription factor TFIIIB complex	A transcription factor complex that is involved in regulating transcription from RNA polymerase III (Pol III) promoters. TFIIIB contains the TATA-binding protein (TBP) and two Pol III-specific proteins, B'' and BRF.
transcription preinitiation complex	A protein-DNA complex composed of proteins binding promoter DNA to form the transcriptional preinitiation complex (PIC), the formation of which is a prerequisite for transcription.

4 GO annotations of molecular function

Name	Definition
metal ion binding	Binding to a metal ion.
RNA polymerase III 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 III. Factors required for RNA polymerase III transcription initiation include TFIIIA, TFIIIB and TFIIIC. RNA polymerase III transcribes genes encoding short RNAs, including tRNAs, 5S rRNA, U6 snRNA, the short ncRNA component of RNases P, the mitochondrial RNA processing (MRP) RNA, the signal recognition particle SRP RNA, and in higher eukaryotes a number of micro and other small RNAs, though there is some variability across species as to whether a given small noncoding RNA is transcribed by RNA polymerase II or RNA polymerase III.
RNA polymerase III type 3 promoter sequence-specific DNA binding	Binding to a sequence of DNA that is a part of a type 3 promoter that controls transcription by RNA polymerase III (Pol III). A type 3 Pol III promoter is composed of elements upstream of the transcription start site, including a TATA box. The human U6 snRNA gene has a type 3 promoter. Type 3 Pol III promoters have not been observed in S. cerevisiae.
TBP-class protein binding	Binding to a member of the class of TATA-binding proteins (TBP), including any of the TBP-related factors (TRFs).

7 GO annotations of biological process

Name	Definition
DNA-templated transcription initiation	The initial step of transcription, consisting of the assembly of the RNA polymerase preinitiation complex (PIC) at a gene promoter, as well as the formation of the first few bonds of the RNA transcript. Transcription initiation includes abortive initiation events, which occur when the first few nucleotides are repeatedly synthesized and then released, and ends when promoter clearance takes place.
positive regulation of transcription by RNA polymerase III	Any process that activates or increases the frequency, rate or extent of transcription mediated by RNA polymerase III.
rRNA transcription	The synthesis of ribosomal RNA (rRNA), any RNA that forms part of the ribosomal structure, from a DNA template.
transcription by RNA polymerase III	The synthesis of RNA from a DNA template by RNA polymerase III, originating at an RNAP III promoter.
transcription initiation at RNA polymerase III promoter	A transcription initiation process that takes place at a RNA polymerase III gene promoter. Transfer RNAs (tRNA) genes, as well as some other non-coding RNAs, are transcribed by RNA polymerase III.
transcription preinitiation complex assembly	The aggregation, arrangement and bonding together of proteins on promoter DNA to form the transcriptional preinitiation complex (PIC), required for transcription.
tRNA transcription	The synthesis of transfer RNA (tRNA) from a DNA template.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q00403	GTF2B	Transcription initiation factor IIB	Homo sapiens (Human)	PR
Q8CFK2	Brf1	Transcription factor IIIB 90 kDa subunit	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MTGRVCRGCG	GTDIELDAAR	GDAVCTACGS	VLEDNIIVSE	VQFVESSGGG	SSAVGQFVSL
70	80	90	100	110	120
DGAGKTPTLG	GGFHVNLGKE	SRAQTLQNGR	RHIHHLGNQL	QLNQHCLDTA	FNFFKMAVSR
130	140	150	160	170	180
HLTRGRKMAH	VIAACLYLVC	RTEGTPHMLL	DLSDLLQVNV	YVLGKTFLLL	ARELCINAPA
190	200	210	220	230	240
IDPCLYIPRF	AHLLEFGEKN	HEVSMTALRL	LQRMKRDWMH	TGRRPSGLCG	AALLVAARMH
250	260	270	280	290	300
DFRRTVKEVI	SVVKVCESTL	RKRLTEFEDT	PTSQLTIDEF	MKIDLEEECD	PPSYTAGQRK
310	320	330	340	350	360
LRMKQLEQVL	SKKLEEVEGE	ISSYQDAIEI	ELENSRPKAK	GGLASLAKDG	STEDTASSLC
370	380	390	400	410	420
GEEDTEDEEL	EAAASHLNKD	LYRELLGGAP	GSSEAAGSPE	WGGRPPALGS	LLDPLPTAAS
430	440	450	460	470	480
LGISDSIREC	ISSQSSDPKD	ASGDGELDLS	GIDDLEIDRY	ILNESEARVK	AELWMRENAE
490	500	510	520	530	540
YLREQREKEA	RIAKEKELGI	YKEHKPKKSC	KRREPIQAST	AREAIEKMLE	QKKISSKINY
550	560	570	580	590	600
SVLRGLSSAG	GGSPHREDAQ	PEHSASARKL	SRRRTPASRS	GADPVTSVGK	RLRPLVSTQP
610	620	630	640	650	660
AKKVATGEAL	LPSSPTLGAE	PARPQAVLVE	SGPVSYHADE	EADEEEPDEE	DGEPCVSALQ
670
MMGSNDYGCD	GDEDDGY