AiPD: Autoinhibited Protein Database

Q9BUJ2

Gene name	HNRNPUL1 (E1BAP5, HNRPUL1)
Protein name	Heterogeneous nuclear ribonucleoprotein U-like protein 1
Names	Adenovirus early region 1B-associated protein 5, E1B-55 kDa-associated protein 5, E1B-AP5
Species	Homo sapiens (Human)
KEGG Pathway	hsa:11100
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

118-221 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

118-221 (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

2 structures for Q9BUJ2

Entry ID	Method	Resolution	Chain	Position	Source
1ZRJ	NMR	-	A	23-42	PDB
AF-Q9BUJ2-F1	Predicted				AlphaFoldDB

551 variants for Q9BUJ2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs979671413 CA308559600	2	D>V		No	ClinGen TOPMed
rs767323304 CA9458777	3	V>G		No	ClinGen ExAC gnomAD
CA308559621 rs11556497	5	R>C		No	ClinGen TOPMed gnomAD
rs752202621 CA406001178	5	R>H		No	ClinGen ExAC TOPMed gnomAD
rs752202621 CA406001179	5	R>L		No	ClinGen ExAC TOPMed gnomAD
rs752202621 CA9458778	5	R>P		No	ClinGen ExAC TOPMed gnomAD
CA308559617 rs11556497	5	R>S		No	ClinGen TOPMed gnomAD
rs1011146280 CA308559637	8	V>M		No	ClinGen TOPMed
rs1022092301 CA406001205	9	N>K		No	ClinGen TOPMed gnomAD
CA9458780 rs764068137	11	L>I		No	ClinGen ExAC TOPMed gnomAD
CA9458781 rs753709122	12	R>C		No	ClinGen ExAC TOPMed gnomAD
rs757286884 CA9458782	14	E>D		No	ClinGen ExAC gnomAD
CA308559650 rs1044733901	14	E>V		No	ClinGen TOPMed
rs778542918 CA9458783	15	L>M		No	ClinGen ExAC gnomAD
CA308559661 rs750141693	17	R>G		No	ClinGen gnomAD
rs1466013884 CA406001253	17	R>P		No	ClinGen gnomAD
rs1459518572 CA406001255	18	R>C		No	ClinGen TOPMed
CA308559662 rs926289365	19	G>A		No	ClinGen TOPMed
CA406001269 rs1390792235	20	L>P		No	ClinGen TOPMed gnomAD
CA406001267 rs369468843	20	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9458786 rs780284901	21	D>G		No	ClinGen ExAC gnomAD
rs1389087692 CA406001271	21	D>H		No	ClinGen gnomAD
rs1436292174 CA406001279	22	T>A		No	ClinGen TOPMed gnomAD
CA406001278 rs1436292174	22	T>P		No	ClinGen TOPMed gnomAD
rs1300249881 CA406001284	23	R>*		No	ClinGen gnomAD
TCGA novel	23	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1380938527 CA406001286	23	R>Q		No	ClinGen gnomAD
rs768734124 CA9458788	25	L>F		No	ClinGen ExAC TOPMed gnomAD
CA406001301 rs1266172470	26	K>E		No	ClinGen gnomAD
CA308559680 rs1056852	27	A>T		No	ClinGen Ensembl
rs748595975 CA9458790	27	A>V		No	ClinGen ExAC gnomAD
rs1186379277 CA406001318	28	E>D		No	ClinGen gnomAD
rs770370851 CA9458792	28	E>K		No	ClinGen ExAC gnomAD
rs897674510 CA308559707	29	L>P		No	ClinGen TOPMed gnomAD
rs1368638686 CA406001340	32	R>Q		No	ClinGen gnomAD
CA9458793 rs773422950	33	L>P		No	ClinGen ExAC TOPMed gnomAD
CA406001361 rs1306062520	35	A>V		No	ClinGen TOPMed
CA308559717 rs975007400	36	A>G		No	ClinGen TOPMed gnomAD
rs763428674 CA9458794	36	A>T		No	ClinGen ExAC gnomAD
CA406001366 rs975007400	36	A>V		No	ClinGen TOPMed gnomAD
CA308559723 rs922181810	39	A>V		No	ClinGen Ensembl
rs1400486325 CA406001396	41	E>Q		No	ClinGen gnomAD
rs952296567 CA308559725	42	P>A		No	ClinGen TOPMed
rs775299547 CA9458796	42	P>L		No	ClinGen ExAC TOPMed gnomAD
CA406001414 rs1342419765	43	D>E		No	ClinGen gnomAD
CA406001412 rs1393132601	43	D>G		No	ClinGen TOPMed
TCGA novel	44	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9458798 rs760464656	44	D>N		No	ClinGen ExAC gnomAD
CA9458799 rs763695783	45	E>*		No	ClinGen ExAC gnomAD
CA9458800 rs373007462	45	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA406001431 rs761635893	46	R>L		No	ClinGen ExAC TOPMed gnomAD
rs761635893 CA9458801	46	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA406001433 rs1435228949	47	E>Q		No	ClinGen TOPMed
rs1396869626 CA406001449	49	D>A		No	ClinGen TOPMed
CA9458803 rs755807621 COSM1304636	50	A>T	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1312700383 CA406001469	52	D>N		No	ClinGen gnomAD
CA406001485 rs751766236	54	P>L		No	ClinGen ExAC TOPMed gnomAD
rs751766236 CA9458806	54	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs201686804 CA9458804	54	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9458805 rs201686804	54	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755258627 CA9458807	61	N>S		No	ClinGen ExAC gnomAD
rs781097527 CA9458808	62	E>K		No	ClinGen ExAC TOPMed gnomAD
CA9458809 rs748306861	63	E>V		No	ClinGen ExAC TOPMed gnomAD
CA9458810 rs200709260	64	V>F		No	ClinGen ExAC gnomAD
CA406001545 rs200709260	64	V>I		No	ClinGen ExAC gnomAD
rs749616472 CA9458812	66	T>I		No	ClinGen ExAC gnomAD
CA9458813 rs771411630	67	E>K		No	ClinGen ExAC TOPMed
rs771411630 CA406001565	67	E>Q		No	ClinGen ExAC TOPMed
CA406001577 rs1392766581	68	G>V		No	ClinGen TOPMed
rs1486726479 CA406001578	69	G>S		No	ClinGen gnomAD
CA9458814 rs774925137	69	G>V		No	ClinGen ExAC TOPMed gnomAD
rs760374490 CA9458815	71	E>D		No	ClinGen ExAC gnomAD
rs1599753711 CA406001626	76	A>V		No	ClinGen Ensembl
CA9458817 rs775955144	78	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1230254792 CA406001650	80	P>L		No	ClinGen TOPMed gnomAD
rs1036768833 CA308559890	84	Q>*		No	ClinGen TOPMed gnomAD
CA406001671 rs1487130257	84	Q>P		No	ClinGen gnomAD
CA9458819 rs535084657	85	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9458820 rs750372297	86	H>D		No	ClinGen ExAC TOPMed gnomAD
CA406001686 rs1250023679	86	H>Q		No	ClinGen TOPMed
CA9458821 rs750372297	86	H>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	87	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1055080637 CA308559911	87	A>V		No	ClinGen Ensembl
TCGA novel	90	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs17849624 CA308559915 VAR_025606	91	G>C		No	ClinGen UniProt Ensembl dbSNP
CA9458826 rs752677254	93	S>L		No	ClinGen ExAC gnomAD
rs1352114390 CA406001730	94	G>R		No	ClinGen TOPMed
CA406001741 rs1240625130	95	P>L		No	ClinGen TOPMed
CA406001748 rs1233530392	96	D>E		No	ClinGen TOPMed
CA406001743 rs1365871512	96	D>H		No	ClinGen TOPMed gnomAD
TCGA novel	97	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406001751 rs1357067414	97	G>R		No	ClinGen TOPMed
TCGA novel	100	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9458840 rs774079588	100	A>V		No	ClinGen ExAC TOPMed gnomAD
CA406001865 rs1180352376	101	M>I		No	ClinGen gnomAD
CA406001869 rs1413261786	102	D>H		No	ClinGen gnomAD
rs114670612 CA9458842	103	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752953885 CA9458843	105	T>I		No	ClinGen ExAC gnomAD
TCGA novel	110	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754021782 CA9458846	112	D>N		No	ClinGen ExAC gnomAD
rs757790996 CA9458847	112	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1205104675 CA406001951	113	T>N		No	ClinGen TOPMed
rs779597325 CA9458848	116	I>S		No	ClinGen ExAC TOPMed gnomAD
rs1377934972 CA406001986	118	Q>R		No	ClinGen gnomAD
CA9458851 rs758802758	119	E>K		No	ClinGen ExAC gnomAD
rs115786240 CA9458853	121	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs115786240 CA406002005	121	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1269258272 CA406002018	123	G>S		No	ClinGen gnomAD
CA406002028 rs1208412120	124	Y>C		No	ClinGen gnomAD
CA9458857 rs770813330	125	E>G		No	ClinGen ExAC gnomAD
COSM189564 CA9458856 rs144715337	125	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA406002051 rs1471601988	127	R>S		No	ClinGen gnomAD
rs148537090 CA9458858	129	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA406002101 rs1402259799	134	Q>H		No	ClinGen gnomAD
CA9458859 rs538705335	135	Q>P		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	136	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9458860 rs62120961	137	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs865793693 CA308562440	137	Y>N		No	ClinGen Ensembl
rs199709764 CA9458861	138	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA9458862 rs760933060 COSM1209880	138	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA308564463 rs972056265	143	T>K		No	ClinGen Ensembl
CA406002187 rs1236862300	145	M>R		No	ClinGen gnomAD
CA406002186 rs1236862300	145	M>T		No	ClinGen gnomAD
rs994528251 CA308564465	145	M>V		No	ClinGen TOPMed gnomAD
CA406002192 rs1177773432	146	K>E		No	ClinGen TOPMed
rs750508404 CA9458884	148	G>R		No	ClinGen ExAC gnomAD
CA9458885 rs763494208	149	A>S		No	ClinGen ExAC gnomAD
CA9458886 rs766813390	149	A>V		No	ClinGen ExAC TOPMed gnomAD
CA406002223 rs1275163297	151	T>A		No	ClinGen gnomAD
rs1454574086 CA406002255	155	P>L		No	ClinGen gnomAD
rs1282798765 CA406002279	159	S>Y		No	ClinGen TOPMed
CA9458889 rs777346071	160	Q>R		No	ClinGen ExAC gnomAD
rs1209170013 CA406002291	161	L>F		No	ClinGen TOPMed
rs1397993241 CA406002318	165	R>G		No	ClinGen TOPMed gnomAD
rs1225909359 CA406002334	167	Q>E		No	ClinGen TOPMed
CA308564491 rs886390648	167	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA308564503 rs201362715	168	F>I		No	ClinGen 1000Genomes
CA406002347 rs1372308382	169	Q>E		No	ClinGen gnomAD
rs376250609 CA9458890	170	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1295824427 COSM189569 CA406002364	171	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs868518443 CA308564509	174	P>H		No	ClinGen gnomAD
COSM3378753 CA9458891 COSM3378752 rs756946285	174	P>S	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs964879463 CA308564511	175	Y>C		No	ClinGen TOPMed
rs1253237019 CA406002386	175	Y>H		No	ClinGen gnomAD
CA406002409 rs1209277520	178	N>D		No	ClinGen gnomAD
rs200908886 CA406002414	178	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA308564534 rs140550135	179	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA9458895 rs140550135	179	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs772007874 CA9458894	179	R>W		No	ClinGen ExAC TOPMed gnomAD
rs144502015 CA9458897	181	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9458896 rs746763454	181	R>W		No	ClinGen ExAC TOPMed gnomAD
CA9458898 rs776633686	182	G>R		No	ClinGen ExAC
CA406002434 rs1599772080	183	Y>D		No	ClinGen Ensembl
CA9458900 rs770189529	184	F>L		No	ClinGen ExAC gnomAD
rs1483050731 CA406002451	185	E>G		No	ClinGen TOPMed
TCGA novel	187	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9458902 rs762971005	187	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1463442605 CA406002487	190	R>S		No	ClinGen TOPMed gnomAD
CA9458903 rs147857804	190	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1211217767 CA406002512	192	G>D		No	ClinGen gnomAD
rs775796572 CA9458925	192	G>S		No	ClinGen ExAC gnomAD
rs761032061 CA9458926	193	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9458927 rs183061115	193	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1199510477 CA406002520	194	S>Y		No	ClinGen gnomAD
rs1486387021 CA406002569	201	E>D		No	ClinGen gnomAD
TCGA novel	202	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9458929 rs574049923	209	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765773401 CA9458930	210	L>R		No	ClinGen ExAC gnomAD
rs751162432 CA9458931	213	I>V		No	ClinGen ExAC
rs1599781572 CA406002708	219	D>A		No	ClinGen Ensembl
TCGA novel	221	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150301101 CA9458952	223	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA406002777 rs1319383619	229	S>I		No	ClinGen TOPMed
CA9458954 rs777410605	231	G>R		No	ClinGen ExAC gnomAD
rs757384508 CA9458956	236	I>V		No	ClinGen ExAC gnomAD
CA406002827 rs1599781691	237	E>*		No	ClinGen Ensembl
rs1340548776 CA406002831	237	E>D		No	ClinGen gnomAD
CA406002833 rs1294337839	238	G>S		No	ClinGen TOPMed gnomAD
TCGA novel	244	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406002889 rs1468409615	246	A>S		No	ClinGen gnomAD
CA9458959 rs772125858	247	R>L		No	ClinGen ExAC gnomAD
rs149059713 CA9458960	249	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA9458961 rs747445224	253	R>I		No	ClinGen ExAC gnomAD
CA406002938 rs1420449926	254	R>G		No	ClinGen gnomAD
CA9458963 rs769253732	254	R>M		No	ClinGen ExAC TOPMed gnomAD
CA9458962 rs769253732	254	R>T		No	ClinGen ExAC TOPMed gnomAD
CA406002944 rs1278289974	255	G>S		No	ClinGen gnomAD
CA406002950 rs1162747956	256	R>C		No	ClinGen gnomAD
rs762268558 CA9458964	256	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs770641111 CA9458965	257	V>I		No	ClinGen ExAC TOPMed gnomAD
rs867953637 CA308567114	258	C>F		No	ClinGen Ensembl
rs767128887 CA9458968	261	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs759317274 CA9458967	261	M>V		No	ClinGen ExAC gnomAD
CA9458994 rs750270062	264	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1599789867 CA405977203	269	V>M		No	ClinGen Ensembl
CA405977266 rs1599789904	271	H>Y		No	ClinGen Ensembl
CA9458996 rs766617661	272	L>V		No	ClinGen ExAC gnomAD
CA405977307 rs1274808146	273	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs755098689 CA9458998	275	T>A		No	ClinGen ExAC gnomAD
rs1173520749 CA405977407	275	T>I		No	ClinGen gnomAD
CA9459000 rs748680952	277	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	279	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9459001 rs756724566	280	H>N		No	ClinGen ExAC TOPMed gnomAD
CA9459004 rs771787658	284	I>M		No	ClinGen ExAC gnomAD
TCGA novel	284	I>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9459003 rs749704371	284	I>V		No	ClinGen ExAC TOPMed gnomAD
CA9459008 rs79851033	287	S>A		No	ClinGen ExAC gnomAD
CA9459009 rs776048925	287	S>C		No	ClinGen ExAC gnomAD
CA9459010 rs761718822	289	D>G		No	ClinGen ExAC gnomAD
CA405978582 rs1181012457	295	L>V		No	ClinGen gnomAD
rs748633563	296	G>=	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	NCI-TCGA
rs772949221 CA9459012	296	G>S		No	ClinGen ExAC gnomAD
rs916899152 CA308513030	298	E>D		No	ClinGen TOPMed gnomAD
CA405979024 COSM166600 rs1422320011	301	S>F	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
CA405979130 rs1326022291	309	K>R		No	ClinGen gnomAD
rs774052802 CA9459034	311	S>F		No	ClinGen ExAC gnomAD
CA9459035 rs759779569	312	T>A		No	ClinGen ExAC gnomAD
CA9459036 rs200985635	313	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9459039 rs764327881	315	R>Q		No	ClinGen ExAC gnomAD
CA9459038 rs760852808	315	R>W		No	ClinGen ExAC TOPMed gnomAD
CA405979333 rs1446032809	319	Y>C		No	ClinGen gnomAD
rs757748656 CA9459041	321	D>A		No	ClinGen ExAC gnomAD
CA308513119 rs572276508	321	D>E		No	ClinGen Ensembl
CA405979363 rs1193359377	321	D>H		No	ClinGen gnomAD
CA9459042 rs779317116	322	K>E		No	ClinGen ExAC TOPMed gnomAD
rs142945712 CA308513131	324	A>V		No	ClinGen 1000Genomes
rs1568439944 CA405979437	325	E>K		No	ClinGen Ensembl
rs74529580 CA308513172	333	A>S		No	ClinGen Ensembl
CA9459045 COSM189575 rs780709153	333	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA405982558 rs1304707570	336	E>A		No	ClinGen gnomAD
rs1334952990 CA405982687	340	D>G		No	ClinGen TOPMed gnomAD
rs1334952990 CA405982689	340	D>V		No	ClinGen TOPMed gnomAD
CA9459064 rs142989078	341	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs777241878 CA9459065	346	T>A		No	ClinGen ExAC gnomAD
TCGA novel	347	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1209576911 CA405982841	347	K>R		No	ClinGen gnomAD
rs1486335566 CA405982948	350	K>R		No	ClinGen gnomAD
CA9459066 rs748818271	351	W>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA308522774 rs111858337	354	I>V		No	ClinGen Ensembl
TCGA novel	357	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs908333736 CA308522783	357	R>L		No	ClinGen gnomAD
CA405983097 rs908333736	357	R>Q		No	ClinGen gnomAD
rs757176507 CA9459067	358	I>L		No	ClinGen ExAC gnomAD
rs1568450167 CA405983105	358	I>T		No	ClinGen Ensembl
TCGA novel	361	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9459069 CA9459068 rs372936991	363	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	363	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1391132281 CA405983149	363	L>W		No	ClinGen TOPMed
CA405983161 rs1417076200	364	G>A		No	ClinGen TOPMed
CA308522849 rs879077564	364	G>W		No	ClinGen gnomAD
rs771760316 CA9459070	365	G>R		No	ClinGen ExAC TOPMed gnomAD
CA308522853 rs771760316	365	G>S		No	ClinGen ExAC TOPMed gnomAD
CA405983186 rs1478830931	366	Q>E		No	ClinGen TOPMed
rs775466827 CA9459071	368	L>F		No	ClinGen ExAC gnomAD
CA405983266 rs1395621482	369	Y>C		No	ClinGen gnomAD
CA308522894 rs981851328	369	Y>H		No	ClinGen TOPMed
CA405983339 rs1391804699	374	V>A		No	ClinGen gnomAD
rs1192700328 CA405983378	376	N>S		No	ClinGen TOPMed
rs1303607888 CA405983466	380	E>V		No	ClinGen gnomAD
TCGA novel	385	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1334835595 COSM3823172 CA405983579 COSM3823173	386	R>K	breast [Cosmic]	No	ClinGen cosmic curated TOPMed
CA405983604 rs1238487981	387	A>V		No	ClinGen gnomAD
CA308522939 rs12974243	388	E>K		No	ClinGen Ensembl
rs545165335 CA9459077	389	P>S		No	ClinGen ExAC gnomAD
CA9459078 rs763580084	390	Y>C		No	ClinGen ExAC gnomAD
CA308522969 rs766697507	391	C>F		No	ClinGen ExAC gnomAD
rs766697507 CA9459079	391	C>S		No	ClinGen ExAC gnomAD
rs751968794 CA9459080	394	L>F		No	ClinGen ExAC gnomAD
CA405983749 rs1194508282	395	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA9459082 rs763764872	404	P>A		No	ClinGen ExAC gnomAD
TCGA novel	406	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1369816483 CA405983973	407	E>A		No	ClinGen gnomAD
rs753332324 CA9459083 COSM996997	408	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA9459084 rs756710629	409	I>T		No	ClinGen ExAC gnomAD
TCGA novel	410	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405984034 rs1331485004	413	V>A		No	ClinGen TOPMed
rs758463831 COSM996998 CA9459087	413	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs961927036 CA308524534	423	I>M		No	ClinGen Ensembl
rs1261494023 CA405985275	432	A>S		No	ClinGen gnomAD
TCGA novel	438	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758375580 CA9459113	439	I>L		No	ClinGen ExAC gnomAD
CA405985354 rs1185871969	439	I>M		No	ClinGen gnomAD
rs1255374231 CA405985363	440	K>R		No	ClinGen gnomAD
rs1441063753 CA405985390	443	A>T		No	ClinGen TOPMed
CA9459115 rs751344376	446	P>A		No	ClinGen ExAC gnomAD
TCGA novel	448	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	456	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA308524577 rs866591872	463	R>W	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA405985687 rs1194373388	466	G>D		No	ClinGen TOPMed
CA9459141 rs114983592	468	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs528314138 CA9459142	468	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	469	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9459143 rs374708266	470	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs369020580 CA9459145	471	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9459144 rs761109957	471	R>W		No	ClinGen ExAC gnomAD
TCGA novel	473	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	474	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs866321641 CA308524833	476	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	481	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9459147 rs762757970	483	Q>E		No	ClinGen ExAC gnomAD
CA9459148 rs765953796	484	A>V		No	ClinGen ExAC gnomAD
rs931440093 CA308524879	489	N>T		No	ClinGen Ensembl
TCGA novel	496	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1458877974 CA405985999	497	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA405986013 rs1191396061	498	K>R		No	ClinGen TOPMed gnomAD
CA405986702 rs1301282465	507	T>A		No	ClinGen TOPMed
rs773958162 CA9459167	511	G>A		No	ClinGen ExAC gnomAD
CA9459168 rs773958162	511	G>V		No	ClinGen ExAC gnomAD
CA405986759 rs1407281763	512	S>A		No	ClinGen gnomAD
rs775484216 CA9459170	513	A>S		No	ClinGen ExAC gnomAD
CA405986779 rs1431511932	514	Q>R		No	ClinGen gnomAD
rs763928932 CA9459172	516	R>Q		No	ClinGen ExAC
TCGA novel	518	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	520	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1568458324 CA405986860	521	F>Y		No	ClinGen Ensembl
rs757432264 CA9459174	525	Q>H		No	ClinGen ExAC gnomAD
CA9459175 rs148381412	527	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9459176 rs750449839	529	I>V		No	ClinGen ExAC gnomAD
COSM108942 rs149392942 CA308530121	533	P>L	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
TCGA novel	534	T>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9459177 rs758493834	534	T>S		No	ClinGen ExAC TOPMed gnomAD
CA9459180 rs747516113	536	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9459179 rs747516113	536	E>Q		No	ClinGen ExAC gnomAD
rs1021868714 CA308530161	540	D>G		No	ClinGen Ensembl
TCGA novel	541	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	541	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770641021 CA9459183	542	T>I		No	ClinGen ExAC gnomAD
rs745563395 CA9459185	543	I>V		No	ClinGen ExAC gnomAD
TCGA novel	545	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9459187 rs774914058	547	D>E		No	ClinGen ExAC gnomAD
rs1420430914 CA405987049	547	D>H		No	ClinGen gnomAD
rs1420430914 CA405987051	547	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1362442748 CA405987056	548	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1304944222 CA405987120	556	H>Q		No	ClinGen gnomAD
TCGA novel	556	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405987127 rs1340879858 COSM1129831	557	A>V	prostate [Cosmic]	No	ClinGen cosmic curated gnomAD
CA308531210 rs1025901135	564	N>D		No	ClinGen Ensembl
rs1182205871 CA405987187	564	N>S		No	ClinGen gnomAD
CA9459247 rs754677243	566	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9459250 rs755976102	572	D>E		No	ClinGen ExAC gnomAD
TCGA novel	577	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1304955393 CA405987296	580	I>T		No	ClinGen TOPMed gnomAD
CA405987321 rs1310212698	584	R>Q		No	ClinGen gnomAD
rs770625804 CA9459253	584	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	588	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA308531332 rs948549590	592	R>G		No	ClinGen Ensembl
rs1568459846 CA405987378	592	R>S		No	ClinGen Ensembl
rs926030448 CA308531359	596	E>K		No	ClinGen Ensembl
CA405987426 rs1456226114	599	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA308531377 rs934695478	599	R>H		No	ClinGen Ensembl
CA405987428 rs934695478	599	R>L		No	ClinGen Ensembl
rs139278864 CA9459256	601	A>P		No	ClinGen ESP ExAC gnomAD
rs775646882 CA9459257	601	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9459258 rs760852797	604	P>S		No	ClinGen ExAC gnomAD
rs201170736 CA308531421	608	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs777002894 CA9459260	608	R>H		No	ClinGen ExAC TOPMed gnomAD
CA9459262 rs765500966	609	F>C		No	ClinGen ExAC gnomAD
TCGA novel	610	D>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750804837 CA9459263	611	N>S		No	ClinGen ExAC TOPMed gnomAD
COSM3692786 rs754580903 COSM3692785 CA9459264	612	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs767159140 CA9459265	612	R>Q		No	ClinGen ExAC gnomAD
rs752141109 CA9459266	614	G>C		No	ClinGen ExAC TOPMed
rs1345732673 CA405987522	615	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA308531486 rs889994259	617	F>V		No	ClinGen TOPMed
rs777407097 CA9459268	618	R>Q		No	ClinGen ExAC gnomAD
CA9459267 rs755564298	618	R>W		No	ClinGen ExAC TOPMed gnomAD
rs749149036 CA9459269	620	R>C		No	ClinGen ExAC gnomAD
rs567506607 CA9459270	620	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1196202833 CA405987554	621	G>R		No	ClinGen gnomAD
TCGA novel	621	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405987561 rs1599855696	622	G>D		No	ClinGen Ensembl
TCGA novel	622	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA308531556 rs1056853	625	G>A		No	ClinGen Ensembl
rs745662721 CA9459273	625	G>S		No	ClinGen ExAC gnomAD
CA405987581 rs1193451143	626	F>L		No	ClinGen gnomAD
rs772364424 CA9459274	628	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM997003 CA308531579 rs1038497639	628	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1038497639 CA405987599	628	R>L		No	ClinGen TOPMed gnomAD
CA9459275 rs780412056	629	Y>C		No	ClinGen ExAC gnomAD
CA405987601 rs1171831720	629	Y>H		No	ClinGen TOPMed gnomAD
CA405987624 rs1403822581	632	R>*		No	ClinGen gnomAD
COSM997004 CA9459276 rs747304979	632	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA405987633 rs371192741	634	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9459277 rs371192741	634	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs776825783 CA9459278	635	P>A		No	ClinGen ExAC TOPMed gnomAD
rs915090572 CA308531596	635	P>L		No	ClinGen TOPMed
rs776825783 CA308531593	635	P>S		No	ClinGen ExAC TOPMed gnomAD
CA405987638 rs776825783	635	P>T		No	ClinGen ExAC TOPMed gnomAD
CA405987647 rs1276594051	637	G>S		No	ClinGen gnomAD
rs762181626 CA9459279	639	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9459280 rs770360871	639	R>H		No	ClinGen ExAC gnomAD
CA9459281 rs770360871	639	R>L		No	ClinGen ExAC gnomAD
CA405987664 rs1462970804	640	G>S		No	ClinGen Ensembl
CA9459284 rs143909179	641	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9459285 rs760414820	643	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA9459286 rs147281768	645	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	646	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753420084 CA9459287	646	G>V		No	ClinGen ExAC gnomAD
CA405987704 rs1568460256	646	G>W		No	ClinGen Ensembl
rs757076533 CA9459288	647	G>E		No	ClinGen ExAC gnomAD
rs1451726686	647	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs577691151 CA9459289	650	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1162910978 CA405987740	652	G>E		No	ClinGen gnomAD
CA9459290 rs750444487	653	G>V		No	ClinGen ExAC TOPMed gnomAD
CA405987757 rs1407191566	655	Y>H		No	ClinGen gnomAD
rs758267128 CA9459292	656	R>L		No	ClinGen ExAC TOPMed gnomAD
CA9459291 rs758267128	656	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1207601270 CA405988629	659	F>V		No	ClinGen TOPMed
CA9459309 rs375603913	660	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9459310 rs758461986	661	R>C		No	ClinGen ExAC TOPMed gnomAD
CA405988644 COSM1494261 rs1039905357	661	R>H	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1039905357 CA308532899	661	R>L		No	ClinGen TOPMed gnomAD
rs751406446 CA9459312	663	G>R		No	ClinGen ExAC gnomAD
CA405988662 rs1599859028	664	G>D		No	ClinGen Ensembl
CA308532925 rs898590528	665	G>S		No	ClinGen gnomAD
CA405988670 rs1200298037	666	G>S		No	ClinGen gnomAD
rs1240374022 CA405988680	667	Y>C		No	ClinGen TOPMed gnomAD
CA9459313 COSM189589 rs755085167	671	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA308532954 rs755085167	671	R>L		No	ClinGen ExAC TOPMed gnomAD
CA405988725 rs781485852	673	G>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	673	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9459314 rs781485852	673	G>V		No	ClinGen ExAC TOPMed gnomAD
CA9459315 rs748373357	674	N>H		No	ClinGen ExAC gnomAD
rs756178578 CA9459317	676	N>H		No	ClinGen ExAC TOPMed gnomAD
CA308532982 rs1025621432	676	N>S		No	ClinGen gnomAD
CA9459319 rs779069653	677	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9459318 rs777868800	677	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1480047901 CA405988759	679	N>D		No	ClinGen TOPMed
rs1375653304 CA405988761	679	N>T		No	ClinGen gnomAD
rs1165560998 CA405988778	681	N>S		No	ClinGen gnomAD
rs766735739	681	N>missing	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	NCI-TCGA
CA405988793 rs1568461521	683	N>K		No	ClinGen Ensembl
rs370266365 CA9459323	683	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA405988813 rs1233164445	686	G>D		No	ClinGen gnomAD
CA405988833 rs1599859348	689	N>D		No	ClinGen Ensembl
CA9459326 rs776344399	690	R>Q		No	ClinGen ExAC gnomAD
rs772379582 CA9459325	690	R>W		No	ClinGen ExAC gnomAD
CA308533061 rs911425888	695	Q>H		No	ClinGen TOPMed gnomAD
rs764820631 CA9459330	696	P>L		No	ClinGen ExAC TOPMed gnomAD
CA9459333 rs371162759	697	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762948471 CA9459332	697	P>S		No	ClinGen ExAC gnomAD
CA9459335 rs754786715	698	P>S		No	ClinGen ExAC gnomAD
CA405988910 rs1411198383	701	P>S		No	ClinGen TOPMed
rs374729735 CA308533100	702	P>L		No	ClinGen ESP TOPMed gnomAD
rs1399166216 CA405988930	704	P>L		No	ClinGen gnomAD
rs1465829083 CA405988944	706	P>L		No	ClinGen gnomAD
rs752931436 CA9459338	707	P>S		No	ClinGen ExAC gnomAD
CA405988945 rs752931436	707	P>T		No	ClinGen ExAC gnomAD
CA405988957 rs1448219081	709	Q>E		No	ClinGen TOPMed
CA405988965 rs1231946314	710	Q>E		No	ClinGen TOPMed gnomAD
CA9459339 rs756376502	710	Q>R		No	ClinGen ExAC gnomAD
rs749401440 CA9459341	712	P>Q		No	ClinGen ExAC gnomAD
rs1412701173 CA405988997	715	P>H		No	ClinGen TOPMed
rs1217249877 CA405989004	716	S>T		No	ClinGen gnomAD
rs1277982448 CA405989029	719	P>H		No	ClinGen gnomAD
rs1161265804 CA405989036	721	R>G		No	ClinGen TOPMed
rs532169618 COSM3692787 COSM3692788 CA9459344	721	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	721	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9459345 rs772453538	722	N>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	722	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1263849575 CA405989049	723	P>S		No	ClinGen gnomAD
TCGA novel	724	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs912928253 CA308533174	724	P>Q		No	ClinGen gnomAD
CA405989053 rs1210473646	724	P>S		No	ClinGen TOPMed gnomAD
CA9459347 rs772541324	728	T>I		No	ClinGen ExAC TOPMed gnomAD
CA9459348 rs142484573	729	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA9459349 rs772785793	730	N>S		No	ClinGen ExAC gnomAD
rs1478002945 CA405989103	731	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs762562145 CA9459350	738	S>P		No	ClinGen ExAC gnomAD
rs1457030852 CA405989154	739	S>G		No	ClinGen gnomAD
rs1398703497 CA405989164	740	A>G		No	ClinGen gnomAD
rs11556495 CA9459352	740	A>T		No	ClinGen ExAC TOPMed gnomAD
rs556784075 CA308533249	741	N>S		No	ClinGen TOPMed
CA405989175 rs1599859989	742	T>P		No	ClinGen Ensembl
CA405989188 rs1599860017	744	T>P		No	ClinGen Ensembl
CA308533271 rs375447450	746	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs375447450 CA9459354	746	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs756288660 COSM1393956 CA9459356	747	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs764304789 CA9459357	748	S>G		No	ClinGen ExAC gnomAD
rs1245691592 CA405989227	750	Y>C		No	ClinGen TOPMed gnomAD
rs1214402184 CA405989250	753	P>L		No	ClinGen gnomAD
rs752165954 CA9459384	755	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs752165954 CA9459385	755	P>R		No	ClinGen ExAC TOPMed gnomAD
CA405989822 rs1446206333	758	S>G		No	ClinGen gnomAD
rs900648889 CA308534560	761	P>A		No	ClinGen Ensembl
CA9459387 rs748923922	761	P>H		No	ClinGen ExAC gnomAD
rs1375536497 CA405989854	762	Y>N		No	ClinGen gnomAD
CA405989885 rs1279620014	765	G>A		No	ClinGen TOPMed gnomAD
rs1568463162 CA405989890	766	G>S		No	ClinGen Ensembl
rs1056858 CA308534580	773	A>G		No	ClinGen Ensembl
rs771987699 CA9459391	775	P>L		No	ClinGen ExAC TOPMed gnomAD
CA405989973 rs1177561567	776	P>S		No	ClinGen gnomAD
rs71358976 CA308534611	777	P>S		No	ClinGen Ensembl
CA405990025 rs1470857546	782	P>A		No	ClinGen gnomAD
CA405990027 rs1190005464	782	P>L		No	ClinGen gnomAD
rs760647427 CA9459394	784	Y>F		No	ClinGen ExAC gnomAD
rs996579004 CA308534621	784	Y>H		No	ClinGen Ensembl
CA308534644 rs1048122708	785	N>D		No	ClinGen TOPMed
CA405990073 rs1568463291	788	S>R		No	ClinGen Ensembl
rs575294650 CA9459396	790	G>S		No	ClinGen ExAC TOPMed gnomAD
rs906455604 CA308534662	791	G>D		No	ClinGen Ensembl
CA9459398 rs150929993	791	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs987816216 CA308534669	794	P>A		No	ClinGen TOPMed
rs750463421 CA9459399	794	P>L		No	ClinGen ExAC TOPMed gnomAD
CA405990119 rs750463421	794	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs750575982 CA308534720	797	Y>C		No	ClinGen Ensembl
rs1027224347 CA405990141	797	Y>D		No	ClinGen TOPMed gnomAD
rs1027224347 CA308534697	797	Y>H		No	ClinGen TOPMed gnomAD
CA405990147 rs1223956487	798	T>P		No	ClinGen gnomAD
TCGA novel	799	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1315763623 CA405990170	800	P>L		No	ClinGen TOPMed gnomAD
rs71358977 CA308534755	801	P>A		No	ClinGen Ensembl
CA9459402 rs752078170	802	P>S		No	ClinGen ExAC gnomAD
rs369020424 CA9459403	803	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA405990198 rs1415941459	804	T>A		No	ClinGen gnomAD
rs767942940 CA9459404	804	T>N		No	ClinGen ExAC gnomAD
CA405990197 rs1415941459	804	T>P		No	ClinGen gnomAD
rs756867438 CA405990203	805	A>P		No	ClinGen ExAC TOPMed gnomAD
CA9459407 rs756867438	805	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9459406 rs756867438	805	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	806	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200789026 CA9459408	807	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs149475676 CA9459409	807	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs149475676 CA308534820	807	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199930928 CA9459410	809	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA405990232 rs199930928	809	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA405990254 rs1242469032	811	P>L		No	ClinGen TOPMed
TCGA novel	811	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405990261 rs1322962166	812	S>N		No	ClinGen gnomAD
rs746897314 CA9459411	813	Y>F		No	ClinGen ExAC gnomAD
rs199897477 CA308535453	820	A>V		No	ClinGen TOPMed
rs746523199 CA9459430	825	Q>P		No	ClinGen ExAC gnomAD
rs1384992361 CA405990401	828	Q>H		No	ClinGen TOPMed
CA9459432 rs781090139	831	G>S		No	ClinGen ExAC gnomAD
rs1206181326 CA405990454	833	W>*		No	ClinGen gnomAD
rs974715460 CA308535467	834	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1243954930 CA405990502	838	G>R		No	ClinGen gnomAD
CA9459439 rs539482956	841	D>N		No	ClinGen ExAC gnomAD
CA9459442 rs775830164	843	G>R		No	ClinGen ExAC TOPMed gnomAD
CA9459444 rs201044523	846	S>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	846	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405990565 rs201044523	846	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs1454168002 CA405990572	847	G>R		No	ClinGen gnomAD
rs1306477875 CA405990579	847	G>V		No	ClinGen gnomAD
CA9459447 rs766030055	850	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA308535551 rs1028922054	852	G>S		No	ClinGen TOPMed
rs1219089161 CA405990640	853	T>A		No	ClinGen gnomAD
rs1284866109 CA405990654	854	S>N		No	ClinGen TOPMed
CA9459449 rs754476151	856	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA9459450 rs754476151	856	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA308535566 rs879019171	856	Q>H		No	ClinGen Ensembl

No associated diseases with Q9BUJ2

4 regional properties for Q9BUJ2

Type	Name	Position	InterPro Accession
domain	B30.2/SPRY domain	191 - 388	IPR001870
domain	SAP domain	3 - 37	IPR003034
domain	SPRY domain	254 - 387	IPR003877
domain	Heterogeneous nuclear ribonucleoprotein U, SPRY domain	211 - 388	IPR035778

Functions

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

3 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.
ribonucleoprotein complex	A macromolecular complex that contains both RNA and protein molecules.

2 GO annotations of molecular function

Name	Definition
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
RNA binding	Binding to an RNA molecule or a portion thereof.

2 GO annotations of biological process

Name	Definition
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.
RNA processing	Any process involved in the conversion of one or more primary RNA transcripts into one or more mature RNA molecules.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q00839	HNRNPU	Heterogeneous nuclear ribonucleoprotein U	Homo sapiens (Human)	PR
Q8VDM6	Hnrnpul1	Heterogeneous nuclear ribonucleoprotein U-like protein 1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MDVRRLKVNE	LREELQRRGL	DTRGLKAELA	ERLQAALEAE	EPDDERELDA	DDEPGRPGHI
70	80	90	100	110	120
NEEVETEGGS	ELEGTAQPPP	PGLQPHAEPG	GYSGPDGHYA	MDNITRQNQF	YDTQVIKQEN
130	140	150	160	170	180
ESGYERRPLE	MEQQQAYRPE	MKTEMKQGAP	TSFLPPEASQ	LKPDRQQFQS	RKRPYEENRG
190	200	210	220	230	240
RGYFEHREDR	RGRSPQPPAE	EDEDDFDDTL	VAIDTYNCDL	HFKVARDRSS	GYPLTIEGFA
250	260	270	280	290	300
YLWSGARASY	GVRRGRVCFE	MKINEEISVK	HLPSTEPDPH	VVRIGWSLDS	CSTQLGEEPF
310	320	330	340	350	360
SYGYGGTGKK	STNSRFENYG	DKFAENDVIG	CFADFECGND	VELSFTKNGK	WMGIAFRIQK
370	380	390	400	410	420
EALGGQALYP	HVLVKNCAVE	FNFGQRAEPY	CSVLPGFTFI	QHLPLSERIR	GTVGPKSKAE
430	440	450	460	470	480
CEILMMVGLP	AAGKTTWAIK	HAASNPSKKY	NILGTNAIMD	KMRVMGLRRQ	RNYAGRWDVL
490	500	510	520	530	540
IQQATQCLNR	LIQIAARKKR	NYILDQTNVY	GSAQRRKMRP	FEGFQRKAIV	ICPTDEDLKD
550	560	570	580	590	600
RTIKRTDEEG	KDVPDHAVLE	MKANFTLPDV	GDFLDEVLFI	ELQREEADKL	VRQYNEEGRK
610	620	630	640	650	660
AGPPPEKRFD	NRGGGGFRGR	GGGGGFQRYE	NRGPPGGNRG	GFQNRGGGSG	GGGNYRGGFN
670	680	690	700	710	720
RSGGGGYSQN	RWGNNNRDNN	NSNNRGSYNR	APQQQPPPQQ	PPPPQPPPQQ	PPPPPSYSPA
730	740	750	760	770	780
RNPPGASTYN	KNSNIPGSSA	NTSTPTVSSY	SPPQPSYSQP	PYNQGGYSQG	YTAPPPPPPP
790	800	810	820	830	840
PPAYNYGSYG	GYNPAPYTPP	PPPTAQTYPQ	PSYNQYQQYA	QQWNQYYQNQ	GQWPPYYGNY
850
DYGSYSGNTQ	GGTSTQ