AiPD: Autoinhibited Protein Database

P55060

Gene name	CSE1L (CAS)
Protein name	Exportin-2
Names	Exp2, Cellular apoptosis susceptibility protein, Chromosome segregation 1-like protein, Importin-alpha re-exporter
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1434
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-57 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-57 (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 P55060

Entry ID	Method	Resolution	Chain	Position	Source
AF-P55060-F1	Predicted				AlphaFoldDB

544 variants for P55060

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs752585427 CA9899473	2	E>D		No	ClinGen ExAC gnomAD
CA315943275 rs1028723422	4	S>N		No	ClinGen TOPMed
CA409308633 rs760623788	4	S>R		No	ClinGen ExAC gnomAD
COSM1307496 CA9899475 rs372551577	5	D>N	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA9899476 rs753398302	5	D>V		No	ClinGen ExAC gnomAD
CA409308873 rs1400028356	13	E>V		No	ClinGen gnomAD
TCGA novel	16	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409309076 rs1231701910	18	T>A		No	ClinGen gnomAD
rs758772975 CA9899481	22	D>H		No	ClinGen ExAC gnomAD
rs758772975 CA9899480	22	D>N		No	ClinGen ExAC gnomAD
TCGA novel	23	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1008741552 CA315943327	23	P>L		No	ClinGen TOPMed
rs747502351 CA9899482	26	R>Q		No	ClinGen ExAC gnomAD
rs769155749 CA9899483	27	R>C		No	ClinGen ExAC gnomAD
TCGA novel	27	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769155749 CA409309419	27	R>S		No	ClinGen ExAC gnomAD
rs770000216 CA9899503	34	E>K		No	ClinGen ExAC gnomAD
rs2664535 CA315946468	35	S>P		No	ClinGen Ensembl
rs1256231469 CA409311212	39	N>Y		No	ClinGen gnomAD
rs1458950784 CA409311247	40	Q>E		No	ClinGen TOPMed gnomAD
CA9899505 rs545334710	40	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs774408375 CA9899507	48	T>I		No	ClinGen ExAC gnomAD
rs1316051059 CA409311420	49	L>S		No	ClinGen gnomAD
rs1329990410 CA409311443	50	L>V		No	ClinGen gnomAD
TCGA novel	51	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409311457 rs1379508894	51	E>K		No	ClinGen gnomAD
CA315946503 rs1037792170	55	D>N		No	ClinGen TOPMed gnomAD
rs900138418 CA315946504	58	I>V		No	ClinGen TOPMed
CA9899510 rs776558691	59	K>E		No	ClinGen ExAC gnomAD
rs761669365 CA9899511	59	K>R		No	ClinGen ExAC TOPMed gnomAD
CA409311627 rs1317444776	61	C>S		No	ClinGen gnomAD
rs1256476306 CA409311651	62	A>D		No	ClinGen gnomAD
CA9899513 rs772660162	64	V>G		No	ClinGen ExAC gnomAD
CA409311734 rs1233085465	66	F>L		No	ClinGen TOPMed
CA315946534 rs2664556	67	K>Q		No	ClinGen Ensembl
rs1253879172 CA409311746	67	K>R		No	ClinGen gnomAD
CA409311795 rs1188303222	69	Y>C		No	ClinGen TOPMed gnomAD
rs112333627 CA315946554	70	I>T		No	ClinGen Ensembl
rs751159883 CA9899516	70	I>V		No	ClinGen ExAC gnomAD
rs995936372 CA315946561	72	R>S		No	ClinGen TOPMed
rs145805814 CA9899517	76	I>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9899529 rs200581090	77	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1361353137 CA409313240	81	P>R		No	ClinGen gnomAD
CA9899531 rs762589431	81	P>S		No	ClinGen ExAC gnomAD
rs201843660 CA9899532	82	N>D		No	ClinGen 1000Genomes ExAC gnomAD
rs201843660 CA9899533	82	N>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA409313279 rs759072407	83	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1300082362 CA409313301	83	K>N		No	ClinGen gnomAD
CA9899534 rs759072407	83	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs768020549 CA9899535	85	C>S		No	ClinGen ExAC gnomAD
rs1386133666 CA409313378	86	E>K		No	ClinGen gnomAD
CA409313418 rs1313669543	87	A>V		No	ClinGen gnomAD
CA9899539 rs754283301	89	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	91	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9899541 rs778787944	92	I>V		No	ClinGen ExAC TOPMed gnomAD
CA409313528 rs1568769737	93	K>E		No	ClinGen Ensembl
CA9899542 rs377396767	94	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1024466852 CA315948569	95	N>D		No	ClinGen TOPMed
rs780226225 CA9899544	95	N>S		No	ClinGen ExAC gnomAD
CA9899546 rs769571209	96	I>T		No	ClinGen ExAC gnomAD
rs777781671 CA9899547	98	H>P		No	ClinGen ExAC gnomAD
CA409313611 rs1380121987	98	H>Y		No	ClinGen gnomAD
rs749114451 CA9899548	102	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1027925485 CA315948608	105	E>D		No	ClinGen TOPMed gnomAD
CA315948605 rs993625726	105	E>G		No	ClinGen Ensembl
rs773686690 CA9899550	105	E>K		No	ClinGen ExAC TOPMed gnomAD
rs759068057 CA9899551	109	K>Q		No	ClinGen ExAC gnomAD
rs749270353 CA9899566	111	L>V		No	ClinGen ExAC gnomAD
CA9899567 rs770826162	112	S>C		No	ClinGen ExAC gnomAD
CA9899568 rs778882666	115	I>V		No	ClinGen ExAC TOPMed gnomAD
rs745440251 CA9899569	117	I>V		No	ClinGen ExAC TOPMed gnomAD
CA9899570 rs771697950	118	I>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	120	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409314266 rs1246075223	120	R>K		No	ClinGen TOPMed
COSM1713627 rs1334983529 CA409314378	124	P>L	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
COSM478263 rs1334983529 CA409314376	124	P>Q	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA9899574 rs776808570	125	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA9899575 rs762215135	125	Q>R		No	ClinGen ExAC gnomAD
rs750936938 CA409314697	137	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9899578 rs763077862 COSM724285	137	R>H	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs750936938 CA9899577	137	R>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	139	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1420092875 CA409314778	140	S>N		No	ClinGen gnomAD
rs766380069 CA9899579	140	S>R		No	ClinGen ExAC gnomAD
rs1169788903 CA409314828	142	D>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs751811344 CA9899580	144	H>R		No	ClinGen ExAC gnomAD
rs1293503221 CA409314863	145	V>I		No	ClinGen TOPMed
CA315948839 rs916723000	151	R>C		No	ClinGen TOPMed gnomAD
rs753618454 CA9899583 COSM268950	151	R>H	lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA9899584 rs753618454	151	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1456980962 CA409315009	154	H>N		No	ClinGen TOPMed
rs1409346355 CA409315022	155	S>A		No	ClinGen TOPMed
rs778777890 CA9899585	157	F>C		No	ClinGen ExAC gnomAD
CA315948848 rs948317350	157	F>L		No	ClinGen TOPMed gnomAD
TCGA novel	159	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9899612 rs773517903	161	R>C		No	ClinGen ExAC gnomAD
rs749632554 CA9899613	161	R>H		No	ClinGen ExAC gnomAD
TCGA novel	163	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409315290 rs1395497632	167	N>D		No	ClinGen TOPMed gnomAD
CA409315297 rs1600602768	168	E>K		No	ClinGen Ensembl
rs746306543 CA315949391	171	T>N		No	ClinGen Ensembl
CA9899616 rs759594465	174	K>R		No	ClinGen ExAC gnomAD
rs775583081 CA9899618	177	L>M		No	ClinGen ExAC TOPMed gnomAD
CA409315367 rs1319510841	178	D>V		No	ClinGen gnomAD
CA409315372 rs1331056255	179	A>T		No	ClinGen gnomAD
CA315949413 rs772598608	181	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9899619 rs772598608	181	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA315949425 rs918287482	183	P>S		No	ClinGen TOPMed
CA9899621 rs750290891	185	T>A		No	ClinGen ExAC gnomAD
rs1352882430 CA409315418	186	N>S		No	ClinGen gnomAD
rs766490263 CA9899623	187	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1374740654 CA409315424	187	L>H		No	ClinGen TOPMed
CA9899624 rs751528033	188	F>L		No	ClinGen ExAC gnomAD
TCGA novel	188	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9899625 rs754460658	189	K>Q		No	ClinGen ExAC gnomAD
rs1354044266 CA409315869	191	T>I		No	ClinGen TOPMed
CA409315863 rs1247933987	191	T>S		No	ClinGen gnomAD
rs777463881 CA9899647	192	I>M		No	ClinGen ExAC gnomAD
rs374191395 CA409315875	192	I>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs374191395 CA9899646	192	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA9899645 rs370821480	192	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1395388984 CA409315892	194	L>F		No	ClinGen TOPMed
CA9899649 rs150139793	196	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9899650 rs549982522	197	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1296783051 CA409315941	198	H>R		No	ClinGen gnomAD
CA409315960 rs1239270642	200	N>D		No	ClinGen TOPMed gnomAD
CA409315958 rs1239270642	200	N>H		No	ClinGen TOPMed gnomAD
rs1186520001 CA409315974	201	D>N		No	ClinGen TOPMed
CA9899652 rs772680000	204	A>G		No	ClinGen ExAC gnomAD
CA409316003 rs772680000	204	A>V		No	ClinGen ExAC gnomAD
rs780392030 CA9899653	206	R>T		No	ClinGen ExAC gnomAD
CA9899655 rs747177200	212	L>V		No	ClinGen ExAC gnomAD
CA409316056 rs1379991222	213	I>T		No	ClinGen gnomAD
CA9899658 rs770880230	214	L>Q		No	ClinGen ExAC gnomAD
CA409316102 rs1188021029	220	Y>C		No	ClinGen gnomAD
rs767560699 CA9899661	221	S>N		No	ClinGen ExAC gnomAD
rs1375078477 CA409316128	224	F>I		No	ClinGen gnomAD
CA409316134 rs1462815211	224	F>L		No	ClinGen gnomAD
CA9899679 rs773304297	228	P>S	Variant assessed as Somatic; 4.715e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1412899075 CA409316438	229	E>G		No	ClinGen TOPMed
rs912785951 CA315950994	230	F>Y		No	ClinGen TOPMed gnomAD
rs745735600 CA9899680	231	F>L		No	ClinGen ExAC gnomAD
CA9899681 rs184951470	235	M>T		No	ClinGen 1000Genomes ExAC gnomAD
CA409316541 rs1290509499	235	M>V		No	ClinGen gnomAD
rs749075199 CA9899682	236	E>G		No	ClinGen ExAC TOPMed gnomAD
CA315951011 rs944282394	239	M>I		No	ClinGen Ensembl
rs760569780 CA9899683	239	M>L		No	ClinGen ExAC gnomAD
rs535866973 CA9899686	244	T>A		No	ClinGen ExAC gnomAD
rs1306796889 CA409316722	244	T>I		No	ClinGen gnomAD
CA9899689 rs758801037	247	T>I		No	ClinGen ExAC gnomAD
rs1213695500 CA409316807	250	N>Y		No	ClinGen gnomAD
CA409316846 rs1194459169	253	L>S		No	ClinGen gnomAD
CA9899692 rs755492835	253	L>V		No	ClinGen ExAC gnomAD
CA409316865 rs1207600001	255	T>A		No	ClinGen TOPMed
rs1043112260 CA315951027	256	D>E		No	ClinGen gnomAD
CA315951026 rs1012108235	256	D>V		No	ClinGen Ensembl
rs374801773 CA9899706	258	E>K		No	ClinGen ESP ExAC TOPMed
CA315951825 rs985524902	261	A>T		No	ClinGen TOPMed
rs368900825 CA9899707	262	G>S		No	ClinGen ESP TOPMed gnomAD
rs1327907011 CA409317916	264	L>W		No	ClinGen gnomAD
CA409318191 rs1305555758	275	A>T		No	ClinGen TOPMed
COSM189825 rs149344844 CA9899713	276	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1337543266 CA409318262	278	Y>C		No	ClinGen TOPMed gnomAD
CA9899714 rs768198533	278	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1306136589 CA409318360	283	D>N		No	ClinGen gnomAD
CA9899717 rs201284324	284	E>Q		No	ClinGen ExAC gnomAD
CA9899718 rs754115193	286	F>I		No	ClinGen ExAC gnomAD
rs11697054 CA315951858	287	Q>H		No	ClinGen Ensembl
CA315951862 rs773313816	288	R>P		No	ClinGen ExAC TOPMed gnomAD
CA9899719 rs773313816	288	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9899720 rs372508022	292	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA9899721 rs746870335	292	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA409318580 rs746870335	292	R>L		No	ClinGen ExAC TOPMed gnomAD
CA315951871 rs763040456	294	V>I		No	ClinGen Ensembl
rs1374451443 CA409318655	295	T>R		No	ClinGen gnomAD
rs1355602647 CA409318692	297	I>M		No	ClinGen gnomAD
CA9899722 rs768423176	297	I>V		No	ClinGen ExAC gnomAD
TCGA novel	298	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	298	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748010901 CA9899724	304	T>A		No	ClinGen ExAC gnomAD
CA409318818 COSM2152970 rs1360257614	304	T>M	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1329108126 CA409318824	305	G>D		No	ClinGen TOPMed gnomAD
rs1274212371 CA409318830	306	Q>E		No	ClinGen TOPMed gnomAD
rs377213495 CA315951887	307	E>K		No	ClinGen ESP
rs145309067 CA9899728	308	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA409318924 rs1479588296	310	Y>C		No	ClinGen TOPMed
CA9899729 rs774135245	311	D>G		No	ClinGen ExAC gnomAD
rs1600609613 CA409319067	314	V>A		No	ClinGen Ensembl
rs770508571 CA9899746	318	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	321	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772589835 CA9899749	325	C>G		No	ClinGen ExAC gnomAD
rs1197272588 CA409319339	328	P>L		No	ClinGen gnomAD
CA409319323 rs1568774515	328	P>S		No	ClinGen Ensembl
CA409319354 rs1257937279	329	H>L		No	ClinGen gnomAD
rs1402940708 CA409319349	329	H>Y		No	ClinGen TOPMed gnomAD
rs1321826389 CA409319369	330	Y>F		No	ClinGen TOPMed gnomAD
CA9899751 rs761073414	331	K>N		No	ClinGen ExAC gnomAD
rs764572015 CA9899752	332	N>K		No	ClinGen ExAC gnomAD
rs1439204981 CA409319421	332	N>S		No	ClinGen TOPMed gnomAD
CA409319417 rs1439204981	332	N>T		No	ClinGen TOPMed gnomAD
TCGA novel	337	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377449760 CA9899755	338	N>D		No	ClinGen ESP ExAC gnomAD
rs965817551 CA315951999	341	T>R		No	ClinGen TOPMed gnomAD
rs755925237 CA9899760	343	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	347	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749184308 CA9899762	347	V>I		No	ClinGen ExAC gnomAD
rs756861429 CA9899763	348	I>V		No	ClinGen ExAC TOPMed gnomAD
CA9899764 rs778519524	352	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1377723817 CA409319793	353	E>K		No	ClinGen Ensembl
CA315952925 rs1047655193	359	E>D		No	ClinGen Ensembl
CA409320773 rs1166316580	361	A>V		No	ClinGen TOPMed gnomAD
CA409320957 rs1600612766	368	E>A		No	ClinGen Ensembl
CA9899788 rs745434078	371	R>K		No	ClinGen ExAC gnomAD
rs1416484455 CA409321053	372	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1414830881 CA409321078	373	D>N		No	ClinGen TOPMed gnomAD
CA409321131 rs1313352600	374	L>V		No	ClinGen gnomAD
rs757973003 CA9899789	376	G>R		No	ClinGen ExAC gnomAD
rs1568776394 CA409321381	379	I>T		No	ClinGen Ensembl
rs541441151 CA9899822	380	D>G		No	ClinGen ExAC gnomAD
CA9899823 rs770936485	383	R>H		No	ClinGen ExAC gnomAD
rs774537352 CA9899824	384	R>K		No	ClinGen ExAC gnomAD
CA409321520 rs1487361629	387	C>S		No	ClinGen TOPMed gnomAD
rs777138985 CA315953204	388	D>E		No	ClinGen Ensembl
rs1171561985 CA409321527	388	D>H		No	ClinGen TOPMed
TCGA novel	392	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9899825 rs142187945	392	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs772400707 CA9899826	395	K>R		No	ClinGen ExAC TOPMed gnomAD
CA409321610 rs1478307790	396	F>V		No	ClinGen TOPMed gnomAD
CA9899827 rs775837139	397	F>I		No	ClinGen ExAC gnomAD
TCGA novel	397	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1219511382 CA409321625	397	F>S		No	ClinGen gnomAD
TCGA novel	398	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1002557703 CA315953227	399	G>E		No	ClinGen TOPMed gnomAD
rs530067728 CA9899828	400	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1447297085 CA409321660	401	V>M		No	ClinGen TOPMed
rs1465591103 CA409321682	403	G>R		No	ClinGen gnomAD
CA409321697 rs1213437318	404	I>T		No	ClinGen gnomAD
rs762232573 CA315953238	407	G>A		No	ClinGen Ensembl
TCGA novel	409	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	410	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9899831 rs556573084	411	S>C		No	ClinGen ExAC TOPMed gnomAD
CA9899834 rs754442648	417	A>T		No	ClinGen ExAC TOPMed gnomAD
rs151168384 CA315953249	419	N>D		No	ClinGen ESP TOPMed gnomAD
CA315953251 rs982881130	420	P>L		No	ClinGen Ensembl
CA9899835 rs780956669	423	N>S		No	ClinGen ExAC gnomAD
rs140221738 CA9899837	426	H>R		No	ClinGen ESP ExAC gnomAD
rs752279949 CA9899836	426	H>Y		No	ClinGen ExAC gnomAD
rs1361857266 CA409321855	427	K>E		No	ClinGen TOPMed
rs778061824 CA409321873	429	A>E		No	ClinGen ExAC gnomAD
rs778061824 CA409321874	429	A>G		No	ClinGen ExAC gnomAD
rs778061824 CA9899838	429	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs749628440 CA9899839	430	A>T		No	ClinGen ExAC gnomAD
CA9899840 rs771507139	430	A>V		No	ClinGen ExAC gnomAD
rs1330390273 CA409321884	431	I>T		No	ClinGen gnomAD
rs1288484857 CA409321879	431	I>V		No	ClinGen gnomAD
CA409321890 rs1015176928	432	Y>C		No	ClinGen gnomAD
CA315953284 rs1015176928	432	Y>F		No	ClinGen gnomAD
CA9899841 rs779281072	434	V>L		No	ClinGen ExAC gnomAD
CA9899844 rs771983261	435	T>I		No	ClinGen ExAC
TCGA novel	436	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA315953299 rs113526104	439	S>P		No	ClinGen Ensembl
rs1479806746 CA409321985	442	Q>H		No	ClinGen TOPMed gnomAD
rs753807526 CA315953318	444	Q>K		No	ClinGen Ensembl
CA315954052 rs1051685772	446	H>L		No	ClinGen TOPMed
CA409322634 rs1335677750	446	H>Y		No	ClinGen gnomAD
CA409322657 rs1361371705	447	G>E		No	ClinGen gnomAD
rs1269961660 CA409322733	450	Q>K		No	ClinGen gnomAD
rs1054832957 CA315954057	451	A>T		No	ClinGen Ensembl
rs1363479244 CA409322790	454	L>F		No	ClinGen gnomAD
CA409322816 rs1288443037	456	N>K		No	ClinGen gnomAD
CA9899863 rs377071060	456	N>T		No	ClinGen ESP ExAC gnomAD
CA409322832 rs1233002977	459	E>*		No	ClinGen TOPMed
rs1329669295 CA409322833	459	E>V		No	ClinGen TOPMed
CA409322862 rs1325162015	461	F>S		No	ClinGen TOPMed
CA409322869 rs539487441	462	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA9899864 rs539487441	462	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA409322881 rs1386967847	463	N>Y		No	ClinGen TOPMed
rs1347187364 CA409322908	465	I>V		No	ClinGen gnomAD
rs776991148 CA9899865	467	P>A		No	ClinGen ExAC gnomAD
rs1351778533 CA409322936	467	P>L		No	ClinGen gnomAD
rs749166466 CA9899866	468	D>H		No	ClinGen ExAC gnomAD
CA9899868 rs201792954	469	L>V		No	ClinGen ExAC TOPMed gnomAD
CA315954087 rs896106185	473	N>H		No	ClinGen Ensembl
CA9899888 rs748277435	475	N>I		No	ClinGen ExAC gnomAD
CA409323020 rs748277435	475	N>S		No	ClinGen ExAC gnomAD
rs770781858 CA9899889	478	P>S		No	ClinGen ExAC gnomAD
CA9899890 rs375038710	480	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs772060489 CA9899892	484	G>S		No	ClinGen ExAC gnomAD
rs1263804893 CA409323081	484	G>V		No	ClinGen TOPMed
rs940306627 CA315954839	486	K>I		No	ClinGen TOPMed
CA9899893 rs775390143	488	I>V		No	ClinGen ExAC TOPMed gnomAD
CA9899894 rs760187591	489	M>T		No	ClinGen ExAC TOPMed gnomAD
CA9899895 rs768085438	490	I>S		No	ClinGen ExAC TOPMed gnomAD
CA409323142 rs1218118943	493	N>S		No	ClinGen TOPMed
CA409324507 rs1338343849	496	P>A		No	ClinGen gnomAD
rs1447575434 CA409324511	496	P>L		No	ClinGen TOPMed
rs963788829 CA315961738	497	K>E		No	ClinGen TOPMed gnomAD
rs768179934 CA9899918	499	H>Q		No	ClinGen ExAC gnomAD
CA409324563 rs1276082887	499	H>Y		No	ClinGen gnomAD
CA315961747 COSM1027738 rs551478981	500	L>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD
CA315961748 rs551478981	500	L>V		No	ClinGen 1000Genomes TOPMed gnomAD
CA409324626 rs1256039400	501	L>S		No	ClinGen gnomAD
rs761357425 COSM1027739 CA9899920	503	S>L	Variant assessed as Somatic; 0.0001386 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1190044057 CA409324676	503	S>P		No	ClinGen gnomAD
CA409324771 rs1382061681	506	L>F		No	ClinGen TOPMed
rs1372439138 CA409324827	507	L>S		No	ClinGen TOPMed gnomAD
CA9899924 rs766784595	509	N>I		No	ClinGen ExAC TOPMed gnomAD
CA9899925 rs752133448	511	L>F		No	ClinGen ExAC gnomAD
rs149873330 CA9899927	513	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA315961776 rs3209624	514	E>G		No	ClinGen Ensembl
rs1325654375 CA409325094	515	S>T		No	ClinGen gnomAD
CA9899929 rs374403159	516	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs752785644 CA9899928	516	I>V		No	ClinGen ExAC gnomAD
rs753988908 CA9899931	518	V>A		No	ClinGen ExAC TOPMed gnomAD
rs764232854 CA9899930	518	V>L		No	ClinGen ExAC gnomAD
rs146427669 CA315961780	519	H>Q		No	ClinGen ESP
rs1253806578 CA409325185	519	H>R		No	ClinGen gnomAD
CA409325206 rs1262088468	521	Y>F		No	ClinGen TOPMed
rs758217555 CA9899932	521	Y>H		No	ClinGen ExAC gnomAD
CA9899934 rs746788725	522	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA409325226 rs1288736246	523	A>G		No	ClinGen TOPMed
CA315961787 rs957536960	524	H>Y		No	ClinGen TOPMed gnomAD
rs1392234640 CA409325246	525	A>T		No	ClinGen TOPMed gnomAD
rs1450370847 CA409325252	525	A>V		No	ClinGen gnomAD
TCGA novel	526	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409325272 rs1173088804	528	R>W		No	ClinGen gnomAD
rs145901767 CA9899935	529	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA409325313 rs1383921047	532	M>V		No	ClinGen gnomAD
TCGA novel	533	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409325328 rs747670372	533	R>P		No	ClinGen ExAC TOPMed gnomAD
CA9899937 rs747670372	533	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1322343109 CA409325332	534	G>R		No	ClinGen TOPMed gnomAD
rs1439782338 CA409325346	535	P>H		No	ClinGen gnomAD
rs1439782338 CA409325350	535	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs916166484 CA315961809	536	N>D		No	ClinGen TOPMed gnomAD
CA9899939 rs772744593	536	N>S		No	ClinGen ExAC gnomAD
CA9899940 rs748911172	537	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1177584720 CA409325375	538	A>T		No	ClinGen TOPMed
CA409325383 rs1433312124	538	A>V		No	ClinGen TOPMed
rs774896316 CA9899942	539	T>S		No	ClinGen ExAC gnomAD
TCGA novel	540	L>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	544	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1334123217 CA409325548	544	A>V		No	ClinGen gnomAD
rs748051425 CA9899957 COSM1027740	547	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA409325607 rs1327998466	547	A>V		No	ClinGen TOPMed
rs755611263 CA9899958	548	P>L		No	ClinGen ExAC TOPMed gnomAD
CA315962221 rs574309464	549	F>C		No	ClinGen 1000Genomes
CA9899960 rs541638373	555	T>R		No	ClinGen 1000Genomes ExAC
CA315962227 rs200292430	556	N>D		No	ClinGen gnomAD
rs200292430 CA409325706	556	N>H		No	ClinGen gnomAD
TCGA novel	557	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA315962241 rs749473551	560	A>V		No	ClinGen gnomAD
CA409325811 rs1184266348	562	T>I		No	ClinGen TOPMed gnomAD
rs1184266348 CA409325807	562	T>K		No	ClinGen TOPMed gnomAD
rs772411024 CA9899964	564	P>A		No	ClinGen ExAC gnomAD
rs775887876 CA9899965	565	G>C		No	ClinGen ExAC gnomAD
CA9899966 rs200007210	566	S>A		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	568	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs6095427 CA315962258	575	A>T		No	ClinGen Ensembl
TCGA novel	578	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409327071 rs1381799230	585	E>D		No	ClinGen gnomAD
rs866694921 CA409327118	589	P>A		No	ClinGen TOPMed gnomAD
rs903903548 CA315963617	589	P>L		No	ClinGen TOPMed
CA315963614 rs866694921	589	P>S		No	ClinGen TOPMed gnomAD
CA409327196 rs143358483	591	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753457047 CA9899982	591	I>T		No	ClinGen ExAC gnomAD
rs778709310 CA9899984	593	T>A		No	ClinGen ExAC gnomAD
rs148320954 CA9899986	594	L>F		No	ClinGen ESP ExAC gnomAD
rs148320954 CA9899985	594	L>V		No	ClinGen ESP ExAC gnomAD
COSM239448 rs1338086341 CA409327271	597	Q>E	prostate [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1483475013 CA409327325	600	Q>R		No	ClinGen gnomAD
CA9899989 rs372016863	605	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs758112988 CA9900011	610	S>G		No	ClinGen ExAC gnomAD
rs141477153 CA315964261	610	S>R		No	ClinGen ESP gnomAD
rs202019379 CA315964267	618	M>V		No	ClinGen gnomAD
CA409327819 rs1330548438	621	A>T		No	ClinGen gnomAD
CA315964270 rs966589957	621	A>V		No	ClinGen TOPMed
CA9900013 rs747468949	622	I>M		No	ClinGen ExAC gnomAD
CA409327870 rs1276730317	624	L>V		No	ClinGen gnomAD
rs147450179 CA9900014	626	I>V		No	ClinGen ESP ExAC gnomAD
CA315964276 rs1048390912	631	K>T		No	ClinGen Ensembl
rs781667950 CA9900015	632	A>G		No	ClinGen ExAC gnomAD
rs1227720932 CA409328107	632	A>T		No	ClinGen gnomAD
rs781667950 CA409328125	632	A>V		No	ClinGen ExAC gnomAD
CA9900017 rs138299846	635	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA409328213 rs1385605700	637	V>I		No	ClinGen TOPMed
CA409328235 rs1311698192	638	V>A		No	ClinGen TOPMed
CA9900018 rs773391083	640	F>L		No	ClinGen ExAC gnomAD
CA409328295 rs1600548273	641	E>A		No	ClinGen Ensembl
CA9900020 rs771241371	642	E>D		No	ClinGen ExAC gnomAD
TCGA novel	646	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1182098164 CA409328531	649	T>S		No	ClinGen gnomAD
TCGA novel	653	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409328669 rs1372832574	655	D>G		No	ClinGen TOPMed
rs1182978882 CA409328841	660	I>V		No	ClinGen TOPMed gnomAD
rs866118646 CA315964363	662	Y>*		No	ClinGen gnomAD
rs778127732 CA9900036	663	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1385884699 CA409328941	665	Q>E		No	ClinGen gnomAD
CA9900037 rs749399771	667	M>I		No	ClinGen ExAC gnomAD
TCGA novel	670	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1372325261 CA409329142	675	K>E		No	ClinGen gnomAD
rs1391950514 CA409329157	676	N>S		No	ClinGen gnomAD
CA409329189 rs1357340163	679	P>A		No	ClinGen TOPMed
CA9900039 rs774660448	679	P>L		No	ClinGen ExAC TOPMed gnomAD
CA409329188 rs1357340163	679	P>S		No	ClinGen TOPMed
CA409329258 rs1315338562	682	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1341082618 CA409329273	683	M>V		No	ClinGen gnomAD
CA409329339 rs1225509781	686	F>L		No	ClinGen gnomAD
CA409329399 rs1481900421	690	L>F		No	ClinGen TOPMed gnomAD
rs865797058 CA315964377	691	Q>*		No	ClinGen Ensembl
TCGA novel	695	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1195131436 CA409329541	698	T>R		No	ClinGen TOPMed gnomAD
CA9900041 rs772398141	698	T>S		No	ClinGen ExAC gnomAD
CA409329559 rs1255855536	699	G>E		No	ClinGen gnomAD
CA409329585 rs1441068291	701	I>V		No	ClinGen gnomAD
CA9900042 rs776605063	704	L>V		No	ClinGen ExAC TOPMed gnomAD
CA9900045 rs772968906	705	V>G		No	ClinGen ExAC gnomAD
rs143688296 CA9900044	705	V>M		No	ClinGen ESP ExAC gnomAD
CA409329671 rs1166781658	706	R>W		No	ClinGen TOPMed gnomAD
CA9900046 rs762532242	709	Q>*		No	ClinGen ExAC gnomAD
rs1462375791 CA409329842	713	E>D		No	ClinGen gnomAD
CA9900047 rs375067125	714	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3783500 CA315964395 rs376962564	714	R>H	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
CA9900051 rs562649816	715	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs544269070 CA9900049	715	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs562649816 CA9900050	715	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA409329880 rs1464820857	716	S>P		No	ClinGen gnomAD
rs147216191 CA9900052	717	N>I		No	ClinGen ESP ExAC TOPMed
CA9900053 rs371134165	718	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA9900054 rs749717447	718	T>I		No	ClinGen ExAC gnomAD
CA9900055 rs757376807	719	I>L		No	ClinGen ExAC gnomAD
CA409329930 rs757376807	719	I>V		No	ClinGen ExAC gnomAD
rs1600548787 CA409329969	721	S>C		No	ClinGen Ensembl
rs778904641 CA9900056	723	A>G		No	ClinGen ExAC gnomAD
rs375000731 CA9900058	726	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1264205162 CA409330050	726	K>T		No	ClinGen gnomAD
rs1030307023 CA315964772	728	P>S		No	ClinGen Ensembl
rs1401927778 CA409330767	738	I>T		No	ClinGen gnomAD
CA9900083 rs777478767	741	K>T		No	ClinGen ExAC gnomAD
rs749080558 CA9900084	744	D>A		No	ClinGen ExAC gnomAD
rs2229042 CA9900085 VAR_029327	754	I>V		No	ClinGen UniProt ESP ExAC dbSNP gnomAD
rs774214734 CA9900086	755	I>V		No	ClinGen ExAC gnomAD
COSM1027746 CA409331125 rs201854045	761	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs201854045 CA9900105	761	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1370482179 CA409331160	763	V>I		No	ClinGen gnomAD
rs745756950 CA9900107	765	Q>R		No	ClinGen ExAC gnomAD
rs775017497 CA9900109	767	R>T		No	ClinGen ExAC gnomAD
rs1246796120 CA409331264	768	K>R		No	ClinGen gnomAD
rs1430725843 CA409331284	770	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs547563592 CA9900111	773	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs372218279 CA9900112	782	K>E		No	ClinGen ESP ExAC gnomAD
rs139664090 CA9900113	782	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	784	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409331564 rs1600550486	788	K>N		No	ClinGen Ensembl
rs1040292945 CA315964824	788	K>Q		No	ClinGen Ensembl
CA315965091 rs948922691	789	S>R		No	ClinGen TOPMed
rs577847172 CA315965099	794	I>F		No	ClinGen Ensembl
rs1416033917 CA409332159	804	L>I		No	ClinGen TOPMed
CA315965105 rs948955836	804	L>P		No	ClinGen TOPMed gnomAD
CA409332173 rs1408761142	805	A>V		No	ClinGen gnomAD
rs773751815 CA9900134	807	Q>R		No	ClinGen ExAC gnomAD
CA409332286 rs1432939201	809	I>M		No	ClinGen gnomAD
rs1044419592 CA315965109	809	I>V		No	ClinGen gnomAD
rs763406118 CA9900135	810	F>L		No	ClinGen ExAC gnomAD
CA315965112 rs7343500	811	D>E		No	ClinGen Ensembl
rs1214260105 CA409333444	817	M>I		No	ClinGen TOPMed
CA315965606 rs112338228	818	F>I		No	ClinGen Ensembl
CA9900151 rs780807563	823	E>A		No	ClinGen ExAC gnomAD
TCGA novel	825	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409333557 rs1241824120	826	I>L		No	ClinGen TOPMed gnomAD
TCGA novel	829	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	829	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9900153 rs549543710	830	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA315965613 rs28659989	832	K>R		No	ClinGen Ensembl
rs956803648 CA315965615	837	V>I		No	ClinGen TOPMed gnomAD
VAR_036558	842	C>F	a colorectal cancer sample; somatic mutation [UniProt]	No	UniProt
CA9900155 rs749686049 COSM189834	843	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA315965621 rs866933117	845	G>D		No	ClinGen Ensembl
CA9900159 rs760137138	846	I>L		No	ClinGen ExAC gnomAD
CA9900158 rs760137138	846	I>V		No	ClinGen ExAC gnomAD
CA409333845 rs1334687474	848	K>R		No	ClinGen TOPMed
CA409333959 rs1288475888	854	P>S		No	ClinGen gnomAD
rs1454087364 CA409334013	857	M>I		No	ClinGen TOPMed
rs1224135477 CA409334097	862	T>A		No	ClinGen gnomAD
CA9900160 rs775701351	862	T>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	866	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409334342 rs1333342055	870	Q>H		No	ClinGen gnomAD
rs113498434 CA315965701	871	S>P		No	ClinGen Ensembl
CA409334577 rs1454260217	879	P>T		No	ClinGen gnomAD
CA409334589 rs1350967070	880	E>K		No	ClinGen TOPMed
CA409334637 rs1159062213	882	D>E		No	ClinGen TOPMed
rs752617706 CA9900188	884	I>T		No	ClinGen ExAC TOPMed gnomAD
CA9900187 rs767505543	884	I>V		No	ClinGen ExAC gnomAD
rs755705248 CA9900189	886	D>V		No	ClinGen ExAC TOPMed gnomAD
CA409334759 rs1407457537	888	E>K		No	ClinGen gnomAD
CA9900190 rs144565007	891	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1568790652 CA409334848	891	I>T		No	ClinGen Ensembl
rs144565007 CA409334844	891	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753363415 CA9900191	893	I>R		No	ClinGen ExAC
CA9900192 rs756997821	895	D>N		No	ClinGen ExAC gnomAD
rs778416175 CA9900193	897	P>S		No	ClinGen ExAC
rs1266433342 CA409335023	901	T>A		No	ClinGen TOPMed
CA315965718 rs1022383554	905	Q>R		No	ClinGen TOPMed
TCGA novel	909	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758621644 CA9900195	910	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1271323543 CA409335234	911	K>E		No	ClinGen Ensembl
rs747467423 CA9900197	911	K>N		No	ClinGen ExAC gnomAD
CA9900198 rs769130704	917	V>L		No	ClinGen ExAC TOPMed gnomAD
CA9900199 rs776732443	918	G>S		No	ClinGen ExAC gnomAD
CA9900200 rs377701705	919	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA9900201 rs377701705	919	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA409335384 rs1222452476	920	M>I		No	ClinGen TOPMed
rs773253036 CA9900202	920	M>V		No	ClinGen ExAC gnomAD
CA409335389 rs1343275870	921	V>M		No	ClinGen TOPMed
CA9900203 rs759383193	922	N>T		No	ClinGen ExAC gnomAD
TCGA novel	923	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9900205 COSM3707822 rs540079258	925	K>R	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA315965739 rs540079258	925	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA409335561 rs1568790769	930	Q>R		No	ClinGen Ensembl
rs760732180 CA9900206	933	H>Y		No	ClinGen ExAC gnomAD
rs1459792470 CA409335646	934	K>N		No	ClinGen gnomAD
CA9900207 rs764119291	937	T>A		No	ClinGen ExAC gnomAD
rs1325016660 CA409335695	937	T>I		No	ClinGen gnomAD
rs781098999 CA9900209	938	A>T		No	ClinGen ExAC TOPMed gnomAD
CA315965751 rs958511443	942	R>M		No	ClinGen Ensembl
rs1206356645 CA409336287	943	V>I		No	ClinGen gnomAD
rs1201411847 CA409336316	947	V>L		No	ClinGen gnomAD
rs779214430 CA9900243	948	S>G		No	ClinGen ExAC gnomAD
rs746804225 CA9900244	948	S>N		No	ClinGen ExAC gnomAD
CA9900245 rs768529439	949	T>A		No	ClinGen ExAC TOPMed gnomAD
CA409336332 rs1419407385	950	S>G		No	ClinGen gnomAD
rs148419512 CA315966075	950	S>I		No	ClinGen ESP TOPMed
CA315966077 rs931392636	953	A>P		No	ClinGen Ensembl
rs776651417 CA9900246	954	E>K		No	ClinGen ExAC gnomAD
TCGA novel	955	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769741319 CA9900248	956	L>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9900250 rs35367415 CA9900251	957	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751148778 CA9900252	958	Y>H		No	ClinGen ExAC gnomAD
rs11965 CA315966087	960	Q>E		No	ClinGen Ensembl
TCGA novel	962	Y>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	966	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409336446 rs1270150960	967	S>R		No	ClinGen TOPMed
VAR_048836 CA315966089 rs3505	968	V>L		No	ClinGen UniProt Ensembl dbSNP
TCGA novel	972	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with P55060

3 regional properties for P55060

Type	Name	Position	InterPro Accession
domain	Importin-beta, N-terminal domain	29 - 102	IPR001494
domain	Exportin-2, C-terminal	527 - 962	IPR005043
domain	Exportin-2, central domain	156 - 525	IPR013713

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Nucleus	Shuttles between the nucleus and the cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nuclear envelope	The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space).
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.

2 GO annotations of molecular function

Name	Definition
nuclear export signal receptor activity	Combining with a nuclear export signal (NES) on a cargo to be transported, to mediate transport of a the cargo through the nuclear pore, from the nuclear lumen to the cytoplasm. The cargo can be either a RNA or a protein.
small GTPase binding	Binding to a small monomeric GTPase.

2 GO annotations of biological process

Name	Definition
protein export from nucleus	The directed movement of a protein from the nucleus into the cytoplasm.
protein import into nucleus	The directed movement of a protein from the cytoplasm to the nucleus.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9XZU1	Cse1	Exportin-2	Drosophila melanogaster (Fruit fly)	PR
Q9UI26	IPO11	Importin-11	Homo sapiens (Human)	PR
Q9ZPY7	CAS	Exportin-2	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MELSDANLQT	LTEYLKKTLD	PDPAIRRPAE	KFLESVEGNQ	NYPLLLLTLL	EKSQDNVIKV
70	80	90	100	110	120
CASVTFKNYI	KRNWRIVEDE	PNKICEADRV	AIKANIVHLM	LSSPEQIQKQ	LSDAISIIGR
130	140	150	160	170	180
EDFPQKWPDL	LTEMVNRFQS	GDFHVINGVL	RTAHSLFKRY	RHEFKSNELW	TEIKLVLDAF
190	200	210	220	230	240
ALPLTNLFKA	TIELCSTHAN	DASALRILFS	SLILISKLFY	SLNFQDLPEF	FEDNMETWMN
250	260	270	280	290	300
NFHTLLTLDN	KLLQTDDEEE	AGLLELLKSQ	ICDNAALYAQ	KYDEEFQRYL	PRFVTAIWNL
310	320	330	340	350	360
LVTTGQEVKY	DLLVSNAIQF	LASVCERPHY	KNLFEDQNTL	TSICEKVIVP	NMEFRAADEE
370	380	390	400	410	420
AFEDNSEEYI	RRDLEGSDID	TRRRAACDLV	RGLCKFFEGP	VTGIFSGYVN	SMLQEYAKNP
430	440	450	460	470	480
SVNWKHKDAA	IYLVTSLASK	AQTQKHGITQ	ANELVNLTEF	FVNHILPDLK	SANVNEFPVL
490	500	510	520	530	540
KADGIKYIMI	FRNQVPKEHL	LVSIPLLINH	LQAESIVVHT	YAAHALERLF	TMRGPNNATL
550	560	570	580	590	600
FTAAEIAPFV	EILLTNLFKA	LTLPGSSENE	YIMKAIMRSF	SLLQEAIIPY	IPTLITQLTQ
610	620	630	640	650	660
KLLAVSKNPS	KPHFNHYMFE	AICLSIRITC	KANPAAVVNF	EEALFLVFTE	ILQNDVQEFI
670	680	690	700	710	720
PYVFQVMSLL	LETHKNDIPS	SYMALFPHLL	QPVLWERTGN	IPALVRLLQA	FLERGSNTIA
730	740	750	760	770	780
SAAADKIPGL	LGVFQKLIAS	KANDHQGFYL	LNSIIEHMPP	ESVDQYRKQI	FILLFQRLQN
790	800	810	820	830	840
SKTTKFIKSF	LVFINLYCIK	YGALALQEIF	DGIQPKMFGM	VLEKIIIPEI	QKVSGNVEKK
850	860	870	880	890	900
ICAVGITKLL	TECPPMMDTE	YTKLWTPLLQ	SLIGLFELPE	DDTIPDEEHF	IDIEDTPGYQ
910	920	930	940	950	960
TAFSQLAFAG	KKEHDPVGQM	VNNPKIHLAQ	SLHKLSTACP	GRVPSMVSTS	LNAEALQYLQ
970
GYLQAASVTL	L