AiPD: Autoinhibited Protein Database

P13639

Gene name	EEF2 (EF2)
Protein name	Elongation factor 2
Names	EF-2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1938
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

21-96 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

21-96 (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

7 structures for P13639

Entry ID	Method	Resolution	Chain	Position	Source
4V6X	EM	500 A	Az	1-858	PDB
6D9J	EM	320 A	9	3-858	PDB
6Z6M	EM	310 A	CB	1-858	PDB
6Z6N	EM	290 A	CB	1-858	PDB
8Y0W	EM	340 A	CB	1-858	PDB
8Y0X	EM	330 A	CB	1-858	PDB
AF-P13639-F1	Predicted				AlphaFoldDB

545 variants for P13639

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA9089235 RCV000711588 RCV002534497 rs773181804	213	G>C	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA264797 RCV000056312 VAR_070792 rs587777052 RCV001288169	596	P>H	Spinocerebellar ataxia type 26 SCA26; compromises the mechanics of translocation [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000509395 rs945307250 CA304442033	660	N>S	Spinocerebellar ataxia type 26 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA9089558 rs748401411	6	V>G		No	ClinGen ExAC gnomAD
rs1259288991 CA403395824	10	R>C		No	ClinGen gnomAD
rs1275840247 CA403395820	11	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1334094020 CA403395815	11	A>V		No	ClinGen TOPMed
rs780490428 CA9089554	14	D>E		No	ClinGen ExAC gnomAD
CA9089555 rs747080912	14	D>G		No	ClinGen ExAC gnomAD
rs1568203209 CA403395776	17	A>T		No	ClinGen Ensembl
CA304445737 rs913037732	18	N>S		No	ClinGen TOPMed gnomAD
rs1357064020 CA9089548	22	M>I		No	ClinGen gnomAD
TCGA novel	23	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403395718 rs1599198862	25	I>T		No	ClinGen Ensembl
TCGA novel	26	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403395701 rs1457846454	28	V>M		No	ClinGen TOPMed
rs759476297 CA9089542	34	T>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	35	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	37	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	40	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9089537 rs768918548 RCV000711572	43	A>V		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1392845115 CA403395590	45	I>V		No	ClinGen gnomAD
TCGA novel	46	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147888450 CA9089530	47	A>S		No	ClinGen ESP ExAC gnomAD
CA9089531 rs147888450	47	A>T		No	ClinGen ESP ExAC gnomAD
rs1407899802 CA403395569	48	S>L		No	ClinGen gnomAD
CA9089529 rs763716497	48	S>P		No	ClinGen ExAC gnomAD
rs1456305040 CA403395566	49	A>S		No	ClinGen gnomAD
rs1599198761 CA403395562	50	R>W		No	ClinGen Ensembl
rs76914868 CA9089524	52	G>E		No	ClinGen ESP ExAC gnomAD
rs762801377 CA9089522	53	E>A		No	ClinGen ExAC gnomAD
CA403395500 rs1599198731	59	T>N		No	ClinGen Ensembl
rs769417606 CA9089520	60	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1211108246 CA403395491	61	K>R		No	ClinGen TOPMed
CA403395480 rs142852560	62	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA9089517 rs772297081	64	Q>E		No	ClinGen ExAC gnomAD
CA403395471 rs772297081	64	Q>K		No	ClinGen ExAC gnomAD
CA304445679 rs769829386	66	R>H		No	ClinGen Ensembl
rs1307786535 CA403395358	79	Y>C		No	ClinGen gnomAD
CA403395362 rs1349228791	79	Y>H		No	ClinGen gnomAD
rs35967493 CA304445113	80	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA304445111 rs905404443	81	L>F		No	ClinGen gnomAD
CA304445100 rs946697377	82	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs946697377 CA403395339	82	S>W		No	ClinGen TOPMed gnomAD
CA9089470 rs779082919	83	E>G		No	ClinGen ExAC TOPMed gnomAD
rs768940783 CA403395338	83	E>K		No	ClinGen ExAC TOPMed gnomAD
CA9089471 rs768940783	83	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA9089469 rs779629505	84	N>D		No	ClinGen ExAC TOPMed gnomAD
rs757973824 CA403395303	87	N>K		No	ClinGen ExAC TOPMed gnomAD
CA403395297 rs1298495113	88	F>C		No	ClinGen TOPMed
CA403395301 rs1421153734	88	F>L		No	ClinGen TOPMed
TCGA novel	88	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403395287 rs1252151598	90	K>Q		No	ClinGen gnomAD
rs935375368 CA304445082	92	S>T		No	ClinGen Ensembl
rs922729998 CA304445077	93	K>R		No	ClinGen TOPMed
CA9089466 rs778970489	94	D>H		No	ClinGen ExAC gnomAD
CA9089463 rs764015216	95	G>D		No	ClinGen ExAC gnomAD
CA9089464 rs145985140 RCV000516794	95	G>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA403395242 rs1288347794	96	A>G		No	ClinGen gnomAD
rs1242396370 CA403395244	96	A>S		No	ClinGen TOPMed
rs1568202558 CA403395240	97	G>S		No	ClinGen Ensembl
rs11544962 CA304445055	98	F>L		No	ClinGen Ensembl
CA403395220 rs1395702933	100	I>V		No	ClinGen gnomAD
rs2230560 CA304445042 CA304445043	108	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA403395148 rs747348346	110	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1222211516 CA403395093	119	L>F		No	ClinGen TOPMed
rs771613145 CA9089451	120	R>Q		No	ClinGen ExAC gnomAD
rs778295378 CA9089449	123	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	124	G>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	133	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403394976 rs1599197491	136	C>R		No	ClinGen Ensembl
TCGA novel	139	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs138510259 CA403394929	143	L>M		No	ClinGen ESP TOPMed gnomAD
CA9089404 rs781134740	144	R>Q		No	ClinGen ExAC gnomAD
rs1273667340 CA403394923	144	R>W		No	ClinGen gnomAD
CA403394912 rs1480515390	146	A>T		No	ClinGen gnomAD
rs746784291 CA9089402	147	I>V		No	ClinGen ExAC gnomAD
rs1194808384 CA403394884	150	R>C		No	ClinGen TOPMed
rs1474685941 CA403394879	151	I>V		No	ClinGen TOPMed
CA403394869 rs1324170947	152	K>R		No	ClinGen TOPMed gnomAD
rs1324170947 CA403394870	152	K>T		No	ClinGen TOPMed gnomAD
rs1568202356 CA403394864	153	P>A		No	ClinGen Ensembl
rs777864719 CA9089398	154	V>L		No	ClinGen ExAC TOPMed gnomAD
CA9089395 rs199983367	155	L>M		No	ClinGen 1000Genomes ExAC gnomAD
rs755365555 CA9089394	156	M>T		No	ClinGen ExAC gnomAD
rs751940798 CA9089393	160	M>L		No	ClinGen ExAC gnomAD
TCGA novel	162	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403394748 CA403394747 rs1242828255	170	E>D		No	ClinGen TOPMed gnomAD
rs776469575 CA9089387	170	E>V		No	ClinGen ExAC gnomAD
CA304444879 rs867147095	171	P>L		No	ClinGen Ensembl
CA9089384 rs775275364	176	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA304444870 rs1018018935	177	T>N		No	ClinGen TOPMed
CA403394695 rs771817071	178	F>C		No	ClinGen ExAC TOPMed gnomAD
CA9089383 rs771817071	178	F>S		No	ClinGen ExAC TOPMed gnomAD
CA403394696 rs771817071	178	F>Y		No	ClinGen ExAC TOPMed gnomAD
CA9089381 rs777953220	180	R>C		No	ClinGen ExAC
CA403394682 rs1225307809	180	R>H		No	ClinGen gnomAD
rs202047073 CA403394673	181	I>M		No	ClinGen ExAC TOPMed gnomAD
CA403394678 rs1391621336	181	I>V		No	ClinGen TOPMed gnomAD
rs1339774480 CA403394668	182	V>A		No	ClinGen TOPMed
CA403394672 rs1335681785	182	V>M		No	ClinGen gnomAD
CA403394658 rs1407692769	184	N>D		No	ClinGen gnomAD
rs143380902 CA9089378	184	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA403394651 rs1346359523	185	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs752043513 CA9089376 COSM1578585	188	I>V	ovary meninges [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs758785964 CA9089374	190	S>C		No	ClinGen ExAC gnomAD
CA9089372 rs764947324	191	T>A		No	ClinGen ExAC gnomAD
CA9089371 rs761292583	191	T>S		No	ClinGen ExAC gnomAD
TCGA novel	192	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1181853415 CA403394608	192	Y>D		No	ClinGen TOPMed
CA9089368 rs374265147	193	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs868852146 CA304444844	195	G>V		No	ClinGen Ensembl
rs1381219734 CA403394543	201	G>D		No	ClinGen gnomAD
CA403394539 rs1291154435	202	N>D		No	ClinGen gnomAD
CA403394532 rs1365378061	203	I>L		No	ClinGen TOPMed gnomAD
rs748262743 CA9089362	203	I>N		No	ClinGen ExAC gnomAD
rs748262743 CA9089363	203	I>T		No	ClinGen ExAC gnomAD
CA403394531 rs1365378061	203	I>V		No	ClinGen TOPMed gnomAD
rs375130935	205	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA403394508 rs1265400084	205	I>V		No	ClinGen Ensembl
rs761077335 CA9089241	206	D>E		No	ClinGen ExAC gnomAD
rs1480423793 CA403394501	206	D>N		No	ClinGen gnomAD
TCGA novel	207	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1460050094 CA403394480	209	L>F		No	ClinGen gnomAD
CA403394465 rs1202995707	211	T>I		No	ClinGen gnomAD
CA9089236 rs140609362	212	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA9089234 rs773181804	213	G>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	215	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403394427 rs1381589253	218	L>F		No	ClinGen TOPMed
TCGA novel	219	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403394366 rs1445730304	227	Q>E		No	ClinGen TOPMed
CA304443495 rs868370312	229	A>V		No	ClinGen Ensembl
COSM439463 CA9089228 rs778994144	230	E>K	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA403394335 rs1361469834	231	M>K		No	ClinGen gnomAD
TCGA novel	234	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368547225 CA304443494	237	A>T		No	ClinGen ESP TOPMed
rs575523824 CA9089223	238	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs575523824 CA9089225	238	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs575523824 RCV001288960 CA9089224	238	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA304443493 rs755344784	239	K>N		No	ClinGen gnomAD
rs1257689905 CA403394275	240	G>E		No	ClinGen gnomAD
rs1483533062 CA403394278	240	G>R		No	ClinGen gnomAD
rs1311053257 CA403394272	241	E>Q		No	ClinGen TOPMed
rs1316143008 CA403394261	242	G>D		No	ClinGen gnomAD
rs994892680 CA304443492	246	P>L		No	ClinGen TOPMed gnomAD
rs1241825712 CA403394236	246	P>S		No	ClinGen gnomAD
CA9089216 RCV000991951 rs769755490	249	R>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs200792022 CA9089217	249	R>W		No	ClinGen ExAC gnomAD
CA9089215 rs371684656	251	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	251	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403394193 rs1460956400	253	V>L		No	ClinGen TOPMed
TCGA novel	254	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1418745859 CA403394177	255	D>G		No	ClinGen TOPMed gnomAD
CA403394181 rs1201826649	255	D>N		No	ClinGen TOPMed
CA403394169 rs1187452219	256	M>T		No	ClinGen TOPMed gnomAD
CA403394171 rs1180823908	256	M>V		No	ClinGen TOPMed
TCGA novel	258	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1050981301 CA304443489	258	K>M		No	ClinGen TOPMed gnomAD
TCGA novel	259	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403394114 rs746110330	263	D>E		No	ClinGen ExAC TOPMed gnomAD
RCV001288961 rs1599196364 CA403394119	263	D>H		No	ClinGen ClinVar Ensembl dbSNP
rs1202470888 CA403394076	267	D>N		No	ClinGen TOPMed
rs986172650 CA304443456	268	P>A		No	ClinGen TOPMed
CA9089165 rs769297557	268	P>L		No	ClinGen ExAC TOPMed gnomAD
CA9089163 rs780592141	270	N>D		No	ClinGen ExAC gnomAD
CA403394056 rs1260504687	270	N>T		No	ClinGen gnomAD
CA9089160 rs778399503	271	G>A		No	ClinGen ExAC TOPMed gnomAD
rs200480185 RCV000518744 CA9089161	271	G>S		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs761907521	274	S>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1334138285 CA403394030	274	S>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9089158 rs753331233	274	S>N		No	ClinGen ExAC gnomAD
rs1402588341 CA403394006	277	A>G		No	ClinGen TOPMed gnomAD
rs1402588341 CA403394005	277	A>V		No	ClinGen TOPMed gnomAD
CA403393999 rs1357678352	278	T>I		No	ClinGen TOPMed
rs1357678352 CA403394001	278	T>N		No	ClinGen TOPMed
CA304443454 rs142197125	279	S>I		No	ClinGen ESP
rs1001215525 CA304443453	280	P>S		No	ClinGen Ensembl
rs1599196003 CA403393980	281	E>D		No	ClinGen Ensembl
rs752584316 CA9089154	281	E>K	Variant assessed as Somatic; 0.0001848 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA403393959 rs1467400439	284	K>N		No	ClinGen gnomAD
CA304443452 rs1021263871	285	L>V		No	ClinGen TOPMed
CA403393945 rs1285177919 COSM996258	287	R>C	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs767351133 COSM1392715 CA9089153	287	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs762033938 CA9089150	289	F>L		No	ClinGen ExAC gnomAD
CA304443451 rs1042417250	290	C>Y		No	ClinGen TOPMed
rs776852165 CA9089148	291	Q>*		No	ClinGen ExAC gnomAD
TCGA novel	293	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1204833430 CA403393901	294	L>P		No	ClinGen TOPMed
rs776117145 CA9089145	294	L>V		No	ClinGen ExAC gnomAD
rs1231921301 CA403393894	295	D>A		No	ClinGen TOPMed
CA403393895 rs1231921301	295	D>G		No	ClinGen TOPMed
rs1349012792 CA403393898	295	D>H		No	ClinGen gnomAD
TCGA novel	297	I>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746214723 CA403393885	297	I>L		No	ClinGen ExAC gnomAD
rs746214723 CA9089143	297	I>V		No	ClinGen ExAC gnomAD
rs1241109182 CA403393877	298	F>V		No	ClinGen TOPMed gnomAD
rs375845489 CA9089091	301	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1292653320 CA403393834	302	D>V		No	ClinGen TOPMed
CA9089088 rs766860935	303	A>S		No	ClinGen ExAC gnomAD
CA9089087 rs763395759	303	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1218500287 CA403393821	304	I>M		No	ClinGen gnomAD
CA9089086 rs773575375	305	M>I		No	ClinGen ExAC gnomAD
rs770108129 CA403393790	308	K>N		No	ClinGen ExAC gnomAD
rs761390695 CA9089084	309	K>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	309	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9089082 rs746522609	310	E>D		No	ClinGen ExAC TOPMed gnomAD
CA304443328 rs763301574	311	E>K		No	ClinGen gnomAD
rs779911792 CA9089080	312	T>I		No	ClinGen ExAC gnomAD
rs772147848 CA9089079	313	A>T		No	ClinGen ExAC gnomAD
rs757096142 CA9089076	316	I>L		No	ClinGen ExAC TOPMed gnomAD
CA9089074 rs781473441	316	I>M		No	ClinGen ExAC TOPMed gnomAD
CA9089075 rs372856139	316	I>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs372856139 CA304443327	316	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs757096142 CA9089077	316	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	317	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403393714 rs949353398	320	D>E		No	ClinGen TOPMed gnomAD
rs1162827667 CA403393708	321	I>M		No	ClinGen Ensembl
CA9089072 rs201085536	321	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA403393685 rs1225437593	325	S>G		No	ClinGen gnomAD
rs374213686 CA9089070	325	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA403393679 rs1288346216	326	E>K		No	ClinGen TOPMed
rs762204921 CA304443325	327	D>E		No	ClinGen ExAC TOPMed gnomAD
CA9089068 rs773614862	327	D>N		No	ClinGen ExAC TOPMed gnomAD
rs776210947 CA9089066	328	K>E		No	ClinGen ExAC gnomAD
CA9089065 rs760185296	328	K>N		No	ClinGen ExAC TOPMed gnomAD
CA9089063 rs372507236	329	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1161455051 CA403393622	334	P>S		No	ClinGen TOPMed
CA403393615 rs984506740	335	L>V		No	ClinGen TOPMed gnomAD
TCGA novel	337	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA304443249 rs866096212	338	A>D		No	ClinGen TOPMed gnomAD
CA403393585 rs866096212	338	A>G		No	ClinGen TOPMed gnomAD
CA304443248 rs866753926	339	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA304443247 rs865999686	341	R>C		No	ClinGen Ensembl
CA304443246 rs532030743	342	R>H		No	ClinGen TOPMed gnomAD
CA304443245 rs532030743	342	R>L		No	ClinGen TOPMed gnomAD
rs1195076460 CA403393553	343	W>*		No	ClinGen gnomAD
rs954698756 CA304443243	345	P>L		No	ClinGen Ensembl
CA304443244 rs377613989	345	P>S		No	ClinGen ESP TOPMed gnomAD
TCGA novel	348	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA304443242 rs964727190	349	A>T		No	ClinGen gnomAD
rs1302306017 CA403393499	352	Q>R		No	ClinGen TOPMed gnomAD
rs1388562626 CA403393491	353	M>T		No	ClinGen gnomAD
CA9089026 rs114174651	354	I>M		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	359	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs980260154 RCV001644601 CA304443241	363	T>M		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs765769458 CA9089021	366	K>Q		No	ClinGen ExAC gnomAD
CA403393379 rs1251310901	370	E>A		No	ClinGen TOPMed
CA9089018 rs373110188	370	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA9089017 rs761587913	371	L>F		No	ClinGen ExAC gnomAD
rs1599194336 CA403393366	372	L>R		No	ClinGen Ensembl
rs772293215 CA9089015	374	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA304443239 rs868686821	376	P>S		No	ClinGen Ensembl
CA304443238 rs994460769	377	P>A		No	ClinGen Ensembl
CA403393336 rs1377534088	377	P>L	Variant assessed as Somatic; 0.0001501 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs779080764 CA9089013	378	D>G		No	ClinGen ExAC
rs1435105012 CA403393327	379	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA304443237 rs897230586	381	A>S		No	ClinGen TOPMed gnomAD
rs897230586 CA403393311	381	A>T		No	ClinGen TOPMed gnomAD
rs1436128211 CA403393307	381	A>V		No	ClinGen gnomAD
CA403393295 rs1157517061	383	M>I		No	ClinGen gnomAD
rs778139893 CA9089010	383	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1439827287 RCV001288163	384	G>C		No	ClinVar dbSNP
rs1439827287 CA403393292	384	G>S		No	ClinGen gnomAD
CA403393274 rs1311584123	385	I>V		No	ClinGen TOPMed
rs1229015129 CA403393257	387	S>T		No	ClinGen TOPMed
TCGA novel	388	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762878861 CA9088974	390	P>A		No	ClinGen ExAC gnomAD
RCV000499588 CA403393234 rs763170059	390	P>L		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA9088973 rs763170059	390	P>R		No	ClinGen ExAC gnomAD
rs762878861 CA9088975	390	P>S		No	ClinGen ExAC gnomAD
TCGA novel	393	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748717359 CA9088970	393	P>L		No	ClinGen ExAC gnomAD
CA403393217 rs1279122963	393	P>S		No	ClinGen TOPMed
CA9088969 rs777250927	395	M>T		No	ClinGen ExAC gnomAD
CA9088968 rs769205803	398	I>V		No	ClinGen ExAC TOPMed gnomAD
CA403393150 rs1253814799	402	V>A		No	ClinGen TOPMed
rs895700162 CA304443221	403	P>A		No	ClinGen Ensembl
CA403393139 rs1400213852	404	T>I		No	ClinGen gnomAD
CA403393119 rs1180414897	407	K>R		No	ClinGen TOPMed
CA9088962 rs756738121	408	G>A		No	ClinGen ExAC gnomAD
rs756021267 CA9088959	411	Y>C		No	ClinGen ExAC gnomAD
CA9088957 rs767301283	412	A>T		No	ClinGen ExAC gnomAD
CA9088955 rs750633772	414	G>A		No	ClinGen ExAC gnomAD
TCGA novel	415	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9088952 RCV000711571 CA403393055 rs777339030	417	F>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1444018681 CA403393041	420	L>V		No	ClinGen gnomAD
rs1299287459 CA403393037	421	V>L		No	ClinGen gnomAD
rs772435234 CA9088948	430	M>I		No	ClinGen ExAC TOPMed gnomAD
CA403392916 rs1415190605	430	M>V		No	ClinGen gnomAD
rs778507336 CA9088946	433	N>S		No	ClinGen ExAC gnomAD
rs913001998 CA304443218	434	Y>C		No	ClinGen TOPMed
CA403392818 rs1379577842	435	T>I		No	ClinGen gnomAD
rs150273974 CA9088944	436	P>A		No	ClinGen ESP ExAC gnomAD
rs150273974 CA9088945	436	P>S		No	ClinGen ESP ExAC gnomAD
rs1195137689	439	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9088942 rs756036052	442	L>F		No	ClinGen ExAC gnomAD
rs1214326179 CA403392689	443	Y>C		No	ClinGen TOPMed gnomAD
rs1214326179 CA403392686	443	Y>S		No	ClinGen TOPMed gnomAD
TCGA novel	445	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754768486 CA9088939	445	K>R		No	ClinGen ExAC gnomAD
rs1372164303 CA403392402	451	I>M		No	ClinGen TOPMed gnomAD
TCGA novel	456	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1431117186 CA403392327	456	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1431117186 CA403392325	456	R>L		No	ClinGen gnomAD
rs746994331 CA9088884	463	D>E		No	ClinGen ExAC gnomAD
rs775538823 CA9088883	464	V>L		No	ClinGen ExAC gnomAD
TCGA novel	465	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	466	C>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	468	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1258066940 CA403392236	469	I>T		No	ClinGen TOPMed
CA403392240 rs1213006336 COSM3388978	469	I>V	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed
CA403392200 rs1185106152	475	V>A		No	ClinGen TOPMed
CA9088880 COSM178836 rs778505808	482	T>M	large_intestine Variant assessed as Somatic; 0.0002311 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA403392143 rs1418195834	484	T>A		No	ClinGen TOPMed
CA9088877 rs781379401	484	T>I		No	ClinGen ExAC gnomAD
CA9088876 rs200110903	485	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA403392133 rs1394167369	486	T>A		No	ClinGen gnomAD
TCGA novel	487	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403392120 rs1455229788	488	F>I		No	ClinGen gnomAD
CA403392100 rs1181662589	490	H>L		No	ClinGen gnomAD
rs1265419611 CA403392075	494	M>L		No	ClinGen gnomAD
rs1599193329 CA403392066	495	R>G		No	ClinGen Ensembl
CA403392059 rs1279172488	496	V>L		No	ClinGen TOPMed
rs1346998753 CA403392022	501	V>I		No	ClinGen TOPMed
rs763738662 CA9088868	505	V>L		No	ClinGen ExAC gnomAD
rs1274585006 CA403391984	507	V>L		No	ClinGen TOPMed
rs76252955 CA304443134	509	V>G		No	ClinGen Ensembl
rs199771838 CA304443133	510	E>G		No	ClinGen Ensembl
CA403391958 rs1308649928	511	A>S		No	ClinGen gnomAD
CA403391932 rs1336282278	515	A>P		No	ClinGen gnomAD
rs1226577835 CA403391902	519	K>M		No	ClinGen gnomAD
rs1599193239 CA403391889	521	V>G		No	ClinGen Ensembl
TCGA novel	522	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1436227087 CA403391879	523	G>R		No	ClinGen gnomAD
rs374419016 CA9088860	526	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9088861 rs748441671	526	R>W		No	ClinGen ExAC gnomAD
CA9088859 rs768779131	528	A>G		No	ClinGen ExAC TOPMed gnomAD
CA9088858 rs747100966	529	K>Q		No	ClinGen ExAC gnomAD
CA9088857 rs780038811	530	S>T		No	ClinGen ExAC
CA9088817 rs771347280	538	I>M		No	ClinGen ExAC TOPMed gnomAD
CA403391700 rs1253602883	538	I>T		No	ClinGen gnomAD
rs749773906 CA9088814	541	S>L		No	ClinGen ExAC TOPMed gnomAD
rs747874700 CA9088812	545	I>V		No	ClinGen ExAC gnomAD
rs780692447 CA9088811	547	A>T		No	ClinGen ExAC gnomAD
CA9088810 rs754598854	547	A>V		No	ClinGen ExAC TOPMed gnomAD
CA403391570 rs1200259068	548	G>C		No	ClinGen gnomAD
rs1343437940 CA403391559	549	A>S		No	ClinGen gnomAD
CA403391550 rs1447645074	550	G>S		No	ClinGen TOPMed
TCGA novel	555	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403391475 rs1239066507	556	I>V		No	ClinGen gnomAD
rs1232025372 CA403391399	562	E>K		No	ClinGen TOPMed gnomAD
CA403391383 rs1312005011	563	E>G		No	ClinGen gnomAD
TCGA novel	563	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749851802 CA9088798	566	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs867330013 CA304443046	567	C>Y		No	ClinGen Ensembl
rs773849734 RCV000996716 CA9088797	568	I>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA403391302 rs1159137782	569	P>L		No	ClinGen gnomAD
CA403391282 rs1347917447	571	K>E		No	ClinGen gnomAD
CA403391178 rs1599191355	574	D>A		No	ClinGen Ensembl
CA403391176 rs766965840	574	D>E		No	ClinGen TOPMed gnomAD
rs1234344799 CA403391163	577	V>I		No	ClinGen gnomAD
rs1016486852 COSM1481030 CA304442130	580	R>C	Variant assessed as Somatic; 0.0 impact. pancreas breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1290721944 CA403391114	584	S>T		No	ClinGen gnomAD
rs755931480 CA9088765	586	E>G		No	ClinGen ExAC gnomAD
rs1461807060 CA403391090	587	S>L		No	ClinGen gnomAD
rs763197514 CA403391082	588	N>K		No	ClinGen ExAC gnomAD
CA403391080 CA403391081 rs35987350	589	V>L		No	ClinGen ExAC TOPMed gnomAD
rs35987350 CA9088761	589	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA403391074 rs1187833473	590	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA403391067 rs1252976582	591	C>Y		No	ClinGen gnomAD
RCV000677282 rs1555683985 CA403391037	595	S>F		No	ClinGen ClinVar Ensembl dbSNP
CA403391034 rs1226896784	596	P>S		No	ClinGen gnomAD
rs966389526 CA304442113	603	Y>H		No	ClinGen TOPMed gnomAD
rs768970441 CA9088757	604	M>V		No	ClinGen ExAC gnomAD
CA403390964 rs1472010741	606	A>S		No	ClinGen gnomAD
CA403390963 rs1238638025	606	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA9088755 rs149757304	607	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1441576483 COSM178835 CA403390959	607	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1020646538 CA304442107	609	F>L		No	ClinGen Ensembl
rs1599191218 CA403390946	609	F>S		No	ClinGen Ensembl
rs375212891 CA403390932	611	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA304442104 rs1007902036	611	D>N		No	ClinGen TOPMed gnomAD
rs773875633 CA9088752	612	G>A		No	ClinGen ExAC gnomAD
CA403390927 rs773875633	612	G>D		No	ClinGen ExAC gnomAD
CA304442095 rs377744684	615	E>K		No	ClinGen ESP TOPMed gnomAD
CA304442093 rs997431543	617	I>T		No	ClinGen TOPMed
CA9088748 rs755946485	618	D>N		No	ClinGen ExAC
rs750648849 CA9088744	623	S>F		No	ClinGen ExAC gnomAD
rs757356247 CA403390853	624	A>S		No	ClinGen ExAC TOPMed gnomAD
CA9088742 rs757356247	624	A>T		No	ClinGen ExAC TOPMed gnomAD
rs754364920 CA9088741	625	R>C		No	ClinGen ExAC
rs980995029 CA304442079	626	Q>*		No	ClinGen TOPMed
rs145009005 CA304442076	627	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA403390813 rs1599191139	630	Q>E		No	ClinGen Ensembl
rs1599191134 CA403390812	630	Q>P		No	ClinGen Ensembl
CA9088737 rs201976284	631	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA
CA403390803 rs1390940950	632	A>T		No	ClinGen TOPMed
rs773988050 CA9088735	632	A>V		No	ClinGen ExAC gnomAD
CA403390773 rs1173722167	636	A>V		No	ClinGen gnomAD
CA403390770 rs1432232421	637	E>A		No	ClinGen TOPMed
CA403390769 rs1432232421	637	E>G		No	ClinGen TOPMed
CA9088728 rs754786270	637	E>K		No	ClinGen ExAC gnomAD
rs779267368 CA9088726	638	K>T		No	ClinGen ExAC gnomAD
CA9088723 rs764042018	640	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1281127382 CA403390731	642	D>G		No	ClinGen gnomAD
rs753183188 CA9088721	643	V>M		No	ClinGen ExAC gnomAD
rs1599191067 CA403390721	644	A>T		No	ClinGen Ensembl
RCV000518145 CA304442053 rs200589086	644	A>V		No	ClinGen ClinVar Ensembl dbSNP
CA403390703 rs1258931189	646	A>G		No	ClinGen gnomAD
rs867219501 CA304442048	647	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1599191044 CA403390702	647	R>S		No	ClinGen Ensembl
rs774639089 CA9088718	649	I>F		No	ClinGen ExAC gnomAD
CA9088715 rs772796691 COSM996246	656	G>S	Variant assessed as Somatic; 4.652e-05 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA304442038 rs142731069	657	T>S		No	ClinGen ESP TOPMed
rs1454775764 CA403390625	658	G>D		No	ClinGen gnomAD
rs1327857745 CA403390628	658	G>S		No	ClinGen gnomAD
rs979345487 CA304442035	659	P>A		No	ClinGen TOPMed
rs1474997362 CA403390608	661	I>F		No	ClinGen gnomAD
TCGA novel	661	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	665	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1302737668 CA403390582	665	I>V		No	ClinGen TOPMed
rs144336814 CA9088707	673	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1231286361 CA403390489	678	S>G		No	ClinGen gnomAD
rs1293488212 CA403390465	681	A>V		No	ClinGen gnomAD
rs781672509 CA9088703	685	W>L		No	ClinGen ExAC gnomAD
CA403390427 rs751952139	687	T>P		No	ClinGen ExAC gnomAD
rs751952139 CA9088701	687	T>S		No	ClinGen ExAC gnomAD
rs748319866	690	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA9088668 rs776736515	691	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9088667 rs375866867	691	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	695	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403390355 rs1468376389	696	N>S		No	ClinGen gnomAD
rs1599190648 CA403390347 RCV000996715	697	M>T		No	ClinGen ClinVar Ensembl dbSNP
CA9088665 rs780410239	697	M>V		No	ClinGen ExAC gnomAD
CA9088663 rs746226898	698	R>Q		No	ClinGen ExAC gnomAD
CA9088664 rs758884682	698	R>W		No	ClinGen ExAC TOPMed gnomAD
CA9088662 rs779300501	700	V>A		No	ClinGen ExAC gnomAD
CA403390326 rs1313275839	701	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9088661 rs756996547	701	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs367985360 CA304441882	702	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA403390316 rs1289381171	703	D>N		No	ClinGen TOPMed gnomAD
CA403390308 rs1353864041	704	V>I		No	ClinGen gnomAD
CA9088657 rs200627243	705	H>D		No	ClinGen 1000Genomes ExAC gnomAD
CA304441876 rs200627243	705	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs774037219 CA9088654	707	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs141817922 CA403390276	709	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA304441868 rs113688813	709	L>P		No	ClinGen Ensembl
rs776826199 CA403390267	710	H>Q		No	ClinGen ExAC gnomAD
rs768779185 CA9088650	711	A>S		No	ClinGen ExAC gnomAD
rs768779185 CA304441865	711	A>T		No	ClinGen ExAC gnomAD
CA9088647 rs772490991 COSM996244	713	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs746340768 CA9088646	714	I>M		No	ClinGen ExAC gnomAD
CA403390247 rs1238723900	714	I>V		No	ClinGen gnomAD
rs757666325 CA9088644	717	G>R		No	ClinGen ExAC gnomAD
CA403390216 rs1233084701	719	G>S		No	ClinGen gnomAD
rs1432140139 CA403389998	725	A>S		No	ClinGen TOPMed
rs767003023 CA9088639	726	R>Q		No	ClinGen ExAC gnomAD
rs752178810 CA9088640	726	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1458654470 COSM363294 CA403389988	727	R>H	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA403389991 rs1599190517	727	R>S		No	ClinGen Ensembl
TCGA novel	728	C>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403389975 rs1163697035	729	L>F		No	ClinGen gnomAD
CA403389964 rs36527	730	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1415329264 CA403389966	730	Y>C		No	ClinGen gnomAD
CA403389958 rs1485815168	731	A>V		No	ClinGen gnomAD
rs766224831 CA403389956	732	S>C		No	ClinGen ExAC gnomAD
CA9088637 rs766224831	732	S>G		No	ClinGen ExAC gnomAD
CA403389950 rs1211162782	733	V>M		No	ClinGen gnomAD
CA403389935 rs1211372039	735	T>S		No	ClinGen TOPMed gnomAD
rs1276432368 CA403389913	737	Q>R		No	ClinGen gnomAD
CA403389887 rs1293501345	739	R>C		No	ClinGen gnomAD
rs1214108157 CA403389881	739	R>H		No	ClinGen gnomAD
CA403389890 rs1293501345	739	R>S		No	ClinGen gnomAD
CA403389875 rs1375708932	740	L>F		No	ClinGen gnomAD
rs760914805 CA9088633	741	M>V		No	ClinGen ExAC TOPMed gnomAD
CA403389820 rs1437215137	744	I>V		No	ClinGen gnomAD
CA403389762 rs1351308207	748	E>*		No	ClinGen gnomAD
CA304441838 rs1024307622	749	I>M		No	ClinGen TOPMed gnomAD
CA403389736 rs1167668007	750	Q>*		No	ClinGen gnomAD
CA403389734 rs1315125570	750	Q>R		No	ClinGen gnomAD
CA403389652 rs1468041127	751	C>S		No	ClinGen gnomAD
rs770310895 CA304441778	752	P>S		No	ClinGen gnomAD
CA403389548 rs1177559635	759	I>V		No	ClinGen TOPMed
CA403389530 rs1333450278	760	Y>C		No	ClinGen Ensembl
TCGA novel	761	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9088587 rs776792190	762	V>A		No	ClinGen ExAC TOPMed gnomAD
rs776792190 CA403389504	762	V>G		No	ClinGen ExAC TOPMed gnomAD
CA9088586 rs768383239	766	K>R		No	ClinGen ExAC gnomAD
rs529147290 CA9088585	767	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA403389438 rs1200901988	767	R>W		No	ClinGen TOPMed gnomAD
CA304441770 rs35805642	769	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745877479 CA9088582	770	V>L		No	ClinGen ExAC gnomAD
CA403389399 rs745877479	770	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA403389380 rs1568198417	771	F>S		No	ClinGen Ensembl
rs757087170 CA403389341	773	E>D		No	ClinGen ExAC gnomAD
CA403389313 rs1334250993	775	Q>H		No	ClinGen gnomAD
CA403389319 rs1339311455	775	Q>P		No	ClinGen gnomAD
rs777381071 CA9088579	777	A>P		No	ClinGen ExAC gnomAD
rs777381071 CA403389294	777	A>S		No	ClinGen ExAC gnomAD
rs777381071 CA9088578	777	A>T		No	ClinGen ExAC gnomAD
rs1320271147 CA403389283	778	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA403389277 rs1458060594	778	G>V		No	ClinGen gnomAD
TCGA novel	781	M>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758537899 CA9088574	781	M>V		No	ClinGen ExAC TOPMed gnomAD
CA9088571 rs762185492	787	Y>C		No	ClinGen ExAC gnomAD
CA9088567 rs775119611	791	N>S		No	ClinGen ExAC TOPMed gnomAD
COSM996243 CA9088529 rs767823532	798	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs751164052 CA9088527	800	L>V		No	ClinGen ExAC gnomAD
CA304441452 rs896024149	802	S>A		No	ClinGen TOPMed
rs765967807 CA9088526	804	T>M		No	ClinGen ExAC
CA403388686 rs1200604655	813	V>E		No	ClinGen TOPMed
CA403388659 rs1599189543	815	D>A		No	ClinGen Ensembl
rs1174166884 CA403388627	817	W>*		No	ClinGen gnomAD
CA403388635 rs1599189540	817	W>G		No	ClinGen Ensembl
rs1599189513 CA403388547	823	D>A		No	ClinGen Ensembl
TCGA novel	823	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748620210 CA9088513	825	F>V		No	ClinGen ExAC gnomAD
rs755281398 CA9088511	826	D>H		No	ClinGen ExAC gnomAD
CA403388510 rs755281398	826	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1173238210 CA403388504	826	D>V		No	ClinGen TOPMed
CA9088510 rs535135154	827	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1599189486 CA403388491	827	N>S		No	ClinGen Ensembl
rs1599189484 CA403388483	828	S>G		No	ClinGen Ensembl
rs765952566 CA9088509	828	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1043172318 CA304441419	830	R>C		No	ClinGen TOPMed
rs758028986 CA9088508	830	R>H		No	ClinGen ExAC TOPMed gnomAD
rs758028986 CA304441415	830	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1599189464 CA403388433	832	S>C		No	ClinGen Ensembl
CA403388427 rs1599189459	832	S>T		No	ClinGen Ensembl
CA9088506 rs764816209	836	A>V		No	ClinGen ExAC gnomAD
rs776706788 CA9088504	838	T>N		No	ClinGen ExAC gnomAD
CA403388340 rs1254925364	839	R>C		No	ClinGen TOPMed
TCGA novel	839	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403388320 rs1180832473	841	R>C		No	ClinGen gnomAD
CA403388316 rs1206643266	841	R>H		No	ClinGen TOPMed
CA9088501 rs775292443	846	E>A		No	ClinGen ExAC gnomAD
CA403388204 rs1269168669	848	I>L		No	ClinGen gnomAD
TCGA novel	848	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1269168669 CA403388206	848	I>V		No	ClinGen gnomAD
rs1210819605 CA403388183	849	P>L		No	ClinGen gnomAD
rs772708961 CA9088500	850	A>T		No	ClinGen ExAC gnomAD
rs1229006577 CA403388166	851	L>V		No	ClinGen gnomAD
CA403388138 rs1381476036	852	D>E		No	ClinGen gnomAD
rs757876918 CA304441390	853	N>D		No	ClinGen Ensembl
CA403388075 rs1364104801	858	L>W		No	ClinGen gnomAD

No associated diseases with P13639

5 regional properties for P13639

Type	Name	Position	InterPro Accession
domain	Tyrosine-specific protein phosphatases domain	343 - 390	IPR000387
domain	Protein-tyrosine phosphatase, catalytic	319 - 470	IPR003595
domain	GRAM domain	29 - 142	IPR004182
domain	Myotubularin-like, phosphatase domain	150 - 537	IPR010569
active_site	Protein-tyrosine phosphatase, active site	372 - 382	IPR016130

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Nucleus	Phosphorylation by CSK promotes cleavage and SUMOylation-dependent nuclear translocation of the C-terminal cleavage product
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

13 GO annotations of cellular component

Name	Definition
aggresome	An inclusion body formed by dynein-dependent retrograde transport of an aggregated protein on microtubules.
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.
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
ficolin-1-rich granule lumen	Any membrane-enclosed lumen that is part of a ficolin-1-rich granule.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
polysome	A multiribosomal structure representing a linear array of ribosomes held together by messenger RNA. They represent the active complexes in cellular protein synthesis and are able to incorporate amino acids into polypeptides both in vivo and in vitro.
ribonucleoprotein complex	A macromolecular complex that contains both RNA and protein molecules.
secretory granule lumen	The volume enclosed by the membrane of a secretory granule.
synapse	The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.

7 GO annotations of molecular function

Name	Definition
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
GTP binding	Binding to GTP, guanosine triphosphate.
GTPase activity	Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate.
protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
ribosome binding	Binding to a ribosome.
RNA binding	Binding to an RNA molecule or a portion thereof.
translation elongation factor activity	Functions in chain elongation during polypeptide synthesis at the ribosome.

3 GO annotations of biological process

Name	Definition
hematopoietic progenitor cell differentiation	The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells.
positive regulation of translation	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.
translational elongation	The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P32324	EFT1	Elongation factor 2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
P58252	Eef2	Elongation factor 2	Mus musculus (Mouse)	PR
P05197	Eef2	Elongation factor 2	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MVNFTVDQIR	AIMDKKANIR	NMSVIAHVDH	GKSTLTDSLV	CKAGIIASAR	AGETRFTDTR
70	80	90	100	110	120
KDEQERCITI	KSTAISLFYE	LSENDLNFIK	QSKDGAGFLI	NLIDSPGHVD	FSSEVTAALR
130	140	150	160	170	180
VTDGALVVVD	CVSGVCVQTE	TVLRQAIAER	IKPVLMMNKM	DRALLELQLE	PEELYQTFQR
190	200	210	220	230	240
IVENVNVIIS	TYGEGESGPM	GNIMIDPVLG	TVGFGSGLHG	WAFTLKQFAE	MYVAKFAAKG
250	260	270	280	290	300
EGQLGPAERA	KKVEDMMKKL	WGDRYFDPAN	GKFSKSATSP	EGKKLPRTFC	QLILDPIFKV
310	320	330	340	350	360
FDAIMNFKKE	ETAKLIEKLD	IKLDSEDKDK	EGKPLLKAVM	RRWLPAGDAL	LQMITIHLPS
370	380	390	400	410	420
PVTAQKYRCE	LLYEGPPDDE	AAMGIKSCDP	KGPLMMYISK	MVPTSDKGRF	YAFGRVFSGL
430	440	450	460	470	480
VSTGLKVRIM	GPNYTPGKKE	DLYLKPIQRT	ILMMGRYVEP	IEDVPCGNIV	GLVGVDQFLV
490	500	510	520	530	540
KTGTITTFEH	AHNMRVMKFS	VSPVVRVAVE	AKNPADLPKL	VEGLKRLAKS	DPMVQCIIEE
550	560	570	580	590	600
SGEHIIAGAG	ELHLEICLKD	LEEDHACIPI	KKSDPVVSYR	ETVSEESNVL	CLSKSPNKHN
610	620	630	640	650	660
RLYMKARPFP	DGLAEDIDKG	EVSARQELKQ	RARYLAEKYE	WDVAEARKIW	CFGPDGTGPN
670	680	690	700	710	720
ILTDITKGVQ	YLNEIKDSVV	AGFQWATKEG	ALCEENMRGV	RFDVHDVTLH	ADAIHRGGGQ
730	740	750	760	770	780
IIPTARRCLY	ASVLTAQPRL	MEPIYLVEIQ	CPEQVVGGIY	GVLNRKRGHV	FEESQVAGTP
790	800	810	820	830	840
MFVVKAYLPV	NESFGFTADL	RSNTGGQAFP	QCVFDHWQIL	PGDPFDNSSR	PSQVVAETRK
850
RKGLKEGIPA	LDNFLDKL