AiPD: Autoinhibited Protein Database

O43432

Gene name	EIF4G3
Protein name	Eukaryotic translation initiation factor 4 gamma 3
Names	eIF-4-gamma 3, eIF-4G 3, eIF4G 3, eIF-4-gamma II, eIF4GII
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8672
EC number
Protein Class	EUKARYOTIC TRANSLATION INITIATION FACTOR 4 GAMMA (PTHR23253)

Descriptions

Eukaryotic initiation factor 4G (eIF4G) is a probable component of the protein complex eIF4F, which is involved in the recognition of the mRNA cap, ATP-dependent unwinding of 5'-terminal secondary structure and recruitment of mRNA to the ribosome. The eIF4E-binding domain in eIF4G functions as an autoinhibitory domain to modulate its ability to stimulate eIF4A helicase activity. Binding of eIF4E counteracts this autoinhibition, enabling eIF4G to stimulate eIF4A helicase activity.

Autoinhibitory domains (AIDs)

Target domain	682-1105 (eIF4A-binding domain)
Relief mechanism	Partner binding
Assay	Deletion assay

AID

619-630 (eIF4E-binding domain)

Target domain

682-1105 (eIF4A-binding domain)

Relief mechanism

Partner binding (eIF4E binding to eIF4E-binding domain)

Assay

Deletion assay

Accessory elements

No accessory elements

References

Feoktistova K et al. (2013) "Human eIF4E promotes mRNA restructuring by stimulating eIF4A helicase activity", Proceedings of the National Academy of Sciences of the United States of America, 110, 13339-44

Autoinhibited structure

Activated structure

2 structures for O43432

Entry ID	Method	Resolution	Chain	Position	Source
1HU3	X-ray	237 A	A	745-1003	PDB
AF-O43432-F1	Predicted				AlphaFoldDB

941 variants for O43432

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
COSM1179081 RCV000149098 CA174350 rs193921047	848	D>Y	Malignant tumor of prostate prostate [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs764173884 CA664757	4	Q>P		No	ClinGen ExAC gnomAD
rs1174947683 CA339254476	5	P>R		No	ClinGen gnomAD
CA664756 rs760698672	7	T>S		No	ClinGen ExAC gnomAD
CA339254461 rs775723043	8	R>C		No	ClinGen ExAC TOPMed gnomAD
CA664755 rs775723043	8	R>G		No	ClinGen ExAC TOPMed gnomAD
CA664754 rs370233944	8	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA664753 rs746075079	10	P>A		No	ClinGen ExAC gnomAD
COSM3671621 COSM3671619 CA664752 rs774268372	10	P>L	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs572615426 CA664674	13	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs745530077 CA664675	13	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1261231970 CA339252310	14	R>S		No	ClinGen gnomAD
CA339252277 rs1307594688	19	P>S		No	ClinGen gnomAD
rs951338558 CA19324751	20	P>S		No	ClinGen Ensembl
rs542470895 CA19324745	24	I>T		No	ClinGen 1000Genomes
CA664671 rs368799178 COSM903625	25	P>L	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs368799178 CA339252240	25	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs748550888 CA664672	25	P>S		No	ClinGen ExAC TOPMed gnomAD
rs141652044 CA664670	26	N>S		No	ClinGen ESP ExAC gnomAD
CA664669 rs747548486	27	S>N		No	ClinGen ExAC gnomAD
CA664668 rs780003674	30	S>C		No	ClinGen ExAC TOPMed gnomAD
rs750700134 CA664666	32	R>C		No	ClinGen ExAC gnomAD
CA339252195 rs1355196352	32	R>H		No	ClinGen gnomAD
CA339252191 rs1169920277	33	P>H		No	ClinGen gnomAD
rs1408423729 CA339252183	34	G>V		No	ClinGen gnomAD
rs1379869330 CA339252182	35	A>T		No	ClinGen Ensembl
CA664665 rs765519866	38	P>S		No	ClinGen ExAC TOPMed gnomAD
CA664664 rs757525168	46	Q>E		No	ClinGen ExAC gnomAD
rs376763236 CA664663	49	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs376763236 CA339252086	49	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA339252060 rs1480635457	52	N>S		No	ClinGen gnomAD
rs1250263137 CA339252040	55	P>H		No	ClinGen gnomAD
rs1250263137 CA339252038	55	P>L		No	ClinGen gnomAD
rs760530693 CA664661	57	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1247120080 CA339252018	58	Y>F		No	ClinGen gnomAD
rs376563770 CA19324604	59	P>Q		No	ClinGen ESP TOPMed
CA339252010 rs1431637017	60	V>L		No	ClinGen TOPMed
CA339251995 rs1326070431	62	Q>P		No	ClinGen TOPMed
rs372287366 CA664657	66	Y>C		No	ClinGen ESP ExAC TOPMed
rs770617329 CA664656	68	I>V		No	ClinGen ExAC gnomAD
rs1177023852 CA339251949	69	P>T		No	ClinGen TOPMed
rs1347485406 CA339251876	71	Y>F		No	ClinGen gnomAD
rs1230347995 CA339251866	72	R>C		No	ClinGen TOPMed
rs759447516 CA19324059	72	R>H		No	ClinGen ExAC TOPMed gnomAD
CA664641 rs759447516	72	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1404565045 CA339251798	76	P>L		No	ClinGen gnomAD
CA19324042 rs1052935022	77	P>L		No	ClinGen TOPMed
rs1364009592 CA339251794	77	P>S		No	ClinGen gnomAD
CA664638 rs147841357	81	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs147841357 CA664639	81	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
COSM304440 rs1558541124 CA339251725	82	P>R	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1156867421 CA339251728	82	P>S		No	ClinGen TOPMed gnomAD
rs761064914 CA664634	86	P>A		No	ClinGen ExAC TOPMed gnomAD
rs186454453 CA339251647	87	V>I		No	ClinGen 1000Genomes TOPMed
CA19324015 rs186454453	87	V>L		No	ClinGen 1000Genomes TOPMed
CA664633 rs199785308	88	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs746366860 CA664631	90	P>L		No	ClinGen ExAC TOPMed gnomAD
CA664632 rs772757338	90	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1199414444 CA339251619	91	G>A		No	ClinGen gnomAD
rs971566857 CA19323957	94	P>A		No	ClinGen Ensembl
rs749490391 CA664628	96	Y>C		No	ClinGen ExAC gnomAD
rs756259373 CA664626	97	P>A		No	ClinGen ExAC gnomAD
CA19323914 rs202048485	98	G>A		No	ClinGen ExAC gnomAD
rs202048485 CA664625	98	G>E		No	ClinGen ExAC gnomAD
rs41265973 CA664624	99	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368710747 CA664623	101	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1470911598 CA339251377	105	P>R		No	ClinGen gnomAD
CA664622 rs147705566	106	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374602590 CA19323871	107	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs374602590 CA664621	107	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA664608 rs777691527	109	G>V		No	ClinGen ExAC gnomAD
rs1461161250 CA339250525	110	T>M		No	ClinGen gnomAD
rs1570033878 CA339250532	110	T>P		No	ClinGen Ensembl
rs780969311 CA664605	111	P>R		No	ClinGen ExAC gnomAD
CA339250522 rs1445253536	111	P>S		No	ClinGen TOPMed
CA339250507 rs1570033148	113	Y>S		No	ClinGen Ensembl
CA339250496 rs1446859054	115	S>G		No	ClinGen gnomAD
rs139270823 CA664604	116	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1183533925 COSM1473378 CA339250477	117	P>L	breast [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1481776562 CA339250480	117	P>S		No	ClinGen TOPMed
CA339250476 rs1341240754	118	V>M		No	ClinGen TOPMed
rs560567632 CA664602	119	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA339250460 rs1249873080	120	Q>L		No	ClinGen gnomAD
rs1248092373 CA339250455	121	S>T		No	ClinGen TOPMed
CA664599 rs764643338	122	A>P		No	ClinGen ExAC gnomAD
rs1314220663 CA339250446	122	A>V		No	ClinGen TOPMed gnomAD
CA664598 rs761596527	123	P>A		No	ClinGen ExAC gnomAD
rs761596527 CA339250443	123	P>S		No	ClinGen ExAC gnomAD
CA339250438 rs1328922238	124	I>V		No	ClinGen gnomAD
CA664597 rs542439379	125	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1466603124 CA339250421	126	V>G		No	ClinGen gnomAD
CA339250416 rs1393914967	127	P>R		No	ClinGen TOPMed
CA339250413 rs1393824517	128	T>A		No	ClinGen gnomAD
rs768014443 CA664596 COSM172232	128	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA664594 rs142257189	130	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1205159 rs763355758 CA664592	132	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA664590 rs769694370	135	A>T		No	ClinGen ExAC gnomAD
rs867563773 CA19316635	137	R>*		No	ClinGen Ensembl
rs1249828512 CA339250355	137	R>K		No	ClinGen gnomAD
CA339250350 rs1225021048	138	E>K		No	ClinGen gnomAD
CA338870340 rs1344437443	142	I>V		No	ClinGen gnomAD
CA19040968 rs111726993	153	D>G		No	ClinGen Ensembl
CA664574 COSM320095 rs763518861	154	I>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs773533322 CA338870111	157	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1233706085 CA338870061	162	G>V		No	ClinGen TOPMed
CA664571 rs370534983	164	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1282367557 CA338870047	165	R>G		No	ClinGen TOPMed
rs776662598 CA664570	165	R>T		No	ClinGen ExAC gnomAD
rs747223441 CA664569	169	P>A		No	ClinGen ExAC TOPMed gnomAD
rs747223441 CA664568	169	P>S		No	ClinGen ExAC TOPMed gnomAD
CA338870009 rs1229792258	171	I>V		No	ClinGen gnomAD
rs1019243335 CA19040857	173	R>I		No	ClinGen Ensembl
rs1189712639 CA338869990	174	P>T		No	ClinGen gnomAD
rs1379688468 CA338869980	175	T>M		No	ClinGen TOPMed gnomAD
CA664566 rs558471732	177	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1326950714 CA338869963	178	P>L		No	ClinGen TOPMed
CA338869962 rs1242486655	179	T>A		No	ClinGen gnomAD
rs745837574 CA664565	182	Q>L		No	ClinGen ExAC gnomAD
CA338867468 rs1317700954	183	Q>R		No	ClinGen gnomAD
rs1573383003 CA338867458	185	P>T		No	ClinGen Ensembl
rs1379158149 CA338867402	189	P>L		No	ClinGen gnomAD
CA19029992 rs1052146249	190	E>K		No	ClinGen gnomAD
rs182718981 CA19029991	191	H>R		No	ClinGen 1000Genomes gnomAD
rs780669868 CA664539	192	S>N		No	ClinGen ExAC gnomAD
rs577962688 CA19029987	193	P>L		No	ClinGen Ensembl
CA338867363 rs1170031154	193	P>S		No	ClinGen gnomAD
rs754627627 CA664538	194	V>M		No	ClinGen ExAC TOPMed gnomAD
CA19029984 rs529054249	196	Y>S		No	ClinGen gnomAD
CA664537 rs750803742	197	G>R		No	ClinGen ExAC gnomAD
CA664536 rs376651310	199	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA664535 rs757831272	201	S>G		No	ClinGen ExAC gnomAD
rs372335024 CA664533	201	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs760702730 CA664532	202	A>T		No	ClinGen ExAC TOPMed gnomAD
rs759787647 CA664529	203	H>P		No	ClinGen ExAC gnomAD
rs759787647 CA664530	203	H>R		No	ClinGen ExAC gnomAD
CA664531 rs752786490	203	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA664528 rs774079318	205	A>G		No	ClinGen ExAC gnomAD
rs1321606443 CA338867215	207	S>N		No	ClinGen gnomAD
CA19029972 rs904096854	208	T>I		No	ClinGen TOPMed
rs762997218 CA664526	209	P>L		No	ClinGen ExAC gnomAD
CA664525 rs773234113	210	V>I		No	ClinGen ExAC gnomAD
CA338867163 rs1307578293	212	A>E		No	ClinGen gnomAD
CA664523 rs780733807	215	D>H		No	ClinGen ExAC TOPMed gnomAD
rs780733807 CA664522	215	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1463046949 CA338866220	219	E>G		No	ClinGen TOPMed
CA338866200 rs1263917406	222	P>A		No	ClinGen gnomAD
rs746658544 CA664495	223	K>N		No	ClinGen ExAC gnomAD
rs1232806036 CA338866190	223	K>R		No	ClinGen TOPMed gnomAD
CA338866164 rs1382616021	227	V>E		No	ClinGen gnomAD
CA19027913 rs765875477	229	K>E		No	ClinGen Ensembl
CA664493 rs771678058	230	S>F		No	ClinGen ExAC gnomAD
CA338866019 rs1406174699	238	V>A		No	ClinGen gnomAD
rs1171554365 CA338865998	240	S>G		No	ClinGen gnomAD
rs374839979 CA19027908	241	G>A		No	ClinGen ESP
rs1439299907 CA338865983	241	G>R		No	ClinGen gnomAD
rs778094764 CA664491	243	K>R		No	ClinGen ExAC gnomAD
rs756677264 CA664490	245	E>G		No	ClinGen ExAC gnomAD
CA664489 rs576905056	248	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338865843 rs1247889391	250	T>I		No	ClinGen gnomAD
rs755035478 CA664486	251	S>F		No	ClinGen ExAC gnomAD
rs1573234780 CA338865817	252	E>G		No	ClinGen Ensembl
CA19027889 rs865997369	253	T>A		No	ClinGen TOPMed gnomAD
CA338865795 rs1480975232	254	T>A		No	ClinGen TOPMed
CA338865775 rs1250989028	255	A>V		No	ClinGen TOPMed
rs758671536 CA664483	256	I>M		No	ClinGen ExAC gnomAD
rs750081443 CA664484	256	I>V		No	ClinGen ExAC TOPMed gnomAD
CA664482 rs1062981	257	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA664481 rs371607010	259	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA338865704 rs1454505027	261	E>Q		No	ClinGen gnomAD
rs761664300 CA664480	262	L>F		No	ClinGen ExAC TOPMed gnomAD
CA338865681 rs1382001511	263	P>L		No	ClinGen TOPMed
CA19027877 rs761614623	265	P>L		No	ClinGen gnomAD
CA338865653 rs1398126645	266	P>A		No	ClinGen gnomAD
rs1298408333 CA338865611 COSM903579	268	P>R	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA338865616 rs1310438867	268	P>S		No	ClinGen TOPMed
CA664477 rs760196310	272	S>Y		No	ClinGen ExAC gnomAD
rs1446954853 CA338865535	273	S>P		No	ClinGen gnomAD
rs1030765372 CA19027871	275	A>V		No	ClinGen Ensembl
rs774955989 CA338865485	276	R>L		No	ClinGen ExAC TOPMed gnomAD
rs774955989 CA338865487	276	R>P		No	ClinGen ExAC TOPMed gnomAD
CA664476 rs774955989	276	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs771765977 CA664475	277	S>R		No	ClinGen ExAC TOPMed gnomAD
CA338865459 rs1252851320	278	T>A		No	ClinGen gnomAD
CA19027862 rs36116931	279	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1482889131 CA338865432	279	I>T		No	ClinGen gnomAD
CA664474 rs36116931	279	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA338865414 rs1247961386	280	A>G		No	ClinGen gnomAD
rs773567419 CA664473	280	A>S		No	ClinGen ExAC gnomAD
CA338865383 rs1367265027	282	P>L		No	ClinGen TOPMed
CA338865372 rs1283558495	283	T>A		No	ClinGen gnomAD
rs748622861 CA664471	283	T>I		No	ClinGen ExAC TOPMed gnomAD
rs748622861 CA338865363	283	T>S		No	ClinGen ExAC TOPMed gnomAD
rs146145371 CA664470	284	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs146145371 CA338865358	284	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs755408222 CA664469	285	S>F		No	ClinGen ExAC TOPMed gnomAD
CA338865265 rs1222996298	289	S>G		No	ClinGen TOPMed
CA338865258 rs1355319206	289	S>T		No	ClinGen TOPMed
rs780268817 CA19027847	292	I>L		No	ClinGen ExAC gnomAD
CA664467 COSM3785144 rs780268817	292	I>V	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1241222213 CA338865181	293	F>L		No	ClinGen gnomAD
CA664466 rs758761712	293	F>L		No	ClinGen ExAC TOPMed gnomAD
CA664463 rs371032300	296	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA338865127 rs1365597495	297	I>V		No	ClinGen gnomAD
rs753754089 CA664462	298	D>N		No	ClinGen ExAC gnomAD
rs760512131 CA664460	299	D>N		No	ClinGen ExAC gnomAD
CA338865088 rs1285849588	300	R>I		No	ClinGen Ensembl
rs1036470671 CA19027824	301	C>F		No	ClinGen Ensembl
rs143724267 CA664459	301	C>R		No	ClinGen ESP ExAC
rs766944498 CA664458	301	C>W		No	ClinGen ExAC gnomAD
rs1036470671 CA19027825	301	C>Y		No	ClinGen Ensembl
rs1368957156 CA338865073	302	E>Q		No	ClinGen TOPMed gnomAD
CA338865060 rs1288974207	303	L>F		No	ClinGen gnomAD
rs1293500454 CA338865031	305	S>F		No	ClinGen gnomAD
CA19027819 rs201667762	308	E>K		No	ClinGen 1000Genomes
CA664457 rs759198442	310	T>R		No	ClinGen ExAC TOPMed gnomAD
COSM1718728 rs1352825098 CA338864973	311	I>V	NS [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs762276818 CA664455	313	I>L		No	ClinGen ExAC gnomAD
CA338864950 rs1362916360	313	I>T		No	ClinGen gnomAD
CA664454 rs762276818	313	I>V		No	ClinGen ExAC gnomAD
CA19027811 rs942097414	314	P>R		No	ClinGen Ensembl
rs1348201001 CA338864924	315	S>R		No	ClinGen TOPMed gnomAD
CA338864921 rs1284834880	316	L>V		No	ClinGen gnomAD
CA338864903 rs1407080295	317	T>I		No	ClinGen gnomAD
CA338864896 rs1363708474	318	S>Y		No	ClinGen TOPMed
rs1418723430 CA338864884	319	C>Y		No	ClinGen gnomAD
CA664452 rs769264079	321	E>A		No	ClinGen ExAC gnomAD
rs550592648 CA664451	322	T>K		No	ClinGen 1000Genomes ExAC gnomAD
rs960593366 CA19027803	324	D>N		No	ClinGen TOPMed
CA338864821 rs1387833581	325	P>A		No	ClinGen gnomAD
CA338864819 rs780287218	325	P>H		No	ClinGen ExAC TOPMed gnomAD
CA664450 rs780287218	325	P>L		No	ClinGen ExAC TOPMed gnomAD
rs772223488 CA664449	327	P>S		No	ClinGen ExAC gnomAD
rs1409967282 CA338864802	328	T>A		No	ClinGen gnomAD
rs999522558 CA19027798	329	N>H		No	ClinGen TOPMed gnomAD
rs1478518016 CA338864784	330	E>D		No	ClinGen gnomAD
CA338864781 rs1245901387	331	N>D		No	ClinGen gnomAD
rs1196542554 CA338864776	331	N>K		No	ClinGen gnomAD
CA338864773 rs1450827586	332	D>N		No	ClinGen TOPMed
CA338864769 rs1287552264	332	D>V		No	ClinGen TOPMed
rs746118571 CA664448	334	D>E		No	ClinGen ExAC
CA664447 rs146369921	335	I>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs146369921 CA338864748	335	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1177630659 CA338864750	335	I>V		No	ClinGen TOPMed gnomAD
CA338864741 rs1573229568	336	C>S		No	ClinGen Ensembl
CA338864731 rs1267392142	337	K>N		No	ClinGen TOPMed
rs1433659264 CA338864706	341	S>G		No	ClinGen gnomAD
CA338864704 rs1207503024	341	S>N		No	ClinGen gnomAD
CA664445 rs753720688	342	V>A		No	ClinGen ExAC TOPMed gnomAD
CA338864682 rs1573229148	345	N>D		No	ClinGen Ensembl
rs777422635 CA664444	346	D>H		No	ClinGen ExAC gnomAD
rs756079574 CA664443	347	I>V		No	ClinGen ExAC gnomAD
CA338864657 rs1434811181	348	P>L		No	ClinGen gnomAD
CA19027781 rs368397590	348	P>S		No	ClinGen ESP TOPMed gnomAD
CA664441 rs767034543	349	L>V		No	ClinGen ExAC gnomAD
CA338864639 rs1558347806	352	S>G		No	ClinGen Ensembl
CA664439 rs376054175	352	S>N		No	ClinGen ESP ExAC gnomAD
CA664438 rs140024362	353	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA338864627 rs1328991192	354	N>D		No	ClinGen TOPMed
CA338864618 rs1178749997	355	L>Q		No	ClinGen gnomAD
CA664437 rs762500308	356	I>T		No	ClinGen ExAC gnomAD
CA338864608 rs1424778247	357	N>H		No	ClinGen TOPMed gnomAD
rs1170557009 CA338864593	359	I>V		No	ClinGen TOPMed gnomAD
rs1476285544 CA338864569	362	V>D		No	ClinGen TOPMed gnomAD
rs1388594551 CA338864572	362	V>I		No	ClinGen TOPMed
rs144492835 CA338864560	363	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA664434 rs761278824	364	E>G		No	ClinGen ExAC gnomAD
CA664435 rs35287548	364	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA664433 rs776094380	365	K>T		No	ClinGen ExAC gnomAD
CA338864539 rs1311217725	366	L>F		No	ClinGen gnomAD
rs772313223 CA338864544	366	L>V		No	ClinGen ExAC gnomAD
CA338864533 rs1276101901	367	S>L		No	ClinGen gnomAD
CA664431 rs745989506	369	T>M		No	ClinGen ExAC TOPMed gnomAD
CA338864507 rs1258998394	371	S>R		No	ClinGen gnomAD
rs1212295908 CA338864491	374	E>K		No	ClinGen gnomAD
rs377392173 CA664426	375	I>T		No	ClinGen ESP ExAC gnomAD
CA664427 rs777634906	375	I>V		No	ClinGen ExAC gnomAD
CA19027746 rs940330222	377	K>E		No	ClinGen TOPMed
rs1573227107 CA338864465	378	Q>E		No	ClinGen Ensembl
rs35731992 VAR_048924 CA664425	378	Q>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA664424 rs781147265	379	E>A		No	ClinGen ExAC gnomAD
rs1018103993 CA19027738	381	L>F		No	ClinGen Ensembl
rs1411376450 CA338864418	385	L>P		No	ClinGen gnomAD
CA664422 rs751138956	386	E>Q		No	ClinGen ExAC gnomAD
rs765804000 CA664421	387	L>S		No	ClinGen ExAC TOPMed gnomAD
rs1342698323 CA338864387	390	L>V		No	ClinGen gnomAD
rs749988198 CA664419	391	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1048777090 CA19027725	393	P>T		No	ClinGen TOPMed
rs370218455 CA664417	394	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs994472097 CA19027716	395	E>A		No	ClinGen TOPMed
rs149257108 CA19027714	397	M>K		No	ClinGen ESP TOPMed
CA664415 rs768192293	400	E>K		No	ClinGen ExAC TOPMed
CA338864297 rs1558345936	403	P>A		No	ClinGen Ensembl
rs1206190248 CA338864290	404	A>S		No	ClinGen gnomAD
CA338864268 rs1455118062	407	T>I		No	ClinGen TOPMed
CA19027703 rs544184775	408	P>R		No	ClinGen 1000Genomes
CA664413 rs760111202	410	T>A		No	ClinGen ExAC gnomAD
rs897854375 CA19027696	412	P>S		No	ClinGen TOPMed gnomAD
CA338864223 rs1378533158	415	P>H		No	ClinGen TOPMed gnomAD
rs1378533158 CA338864221	415	P>L		No	ClinGen TOPMed gnomAD
rs749544993 CA664411	418	P>A		No	ClinGen ExAC gnomAD
rs749544993 CA664410	418	P>T		No	ClinGen ExAC gnomAD
rs773263848 CA664409	420	T>N		No	ClinGen ExAC gnomAD
CA664406 rs532337784	423	A>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1558345206 CA338864171	423	A>T		No	ClinGen Ensembl
CA664405 rs565059273	424	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1307150318 CA338864164	424	S>T		No	ClinGen gnomAD
CA664402 rs142103671	429	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754976275 CA664401	429	P>L		No	ClinGen ExAC gnomAD
CA338864091 rs142103671	429	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1208858643 CA338864070	431	I>V		No	ClinGen TOPMed
rs1274699173 CA338864049	432	V>A		No	ClinGen TOPMed
rs1274699173 CA338864051	432	V>D		No	ClinGen TOPMed
rs779630794 CA664399	433	P>L		No	ClinGen ExAC gnomAD
rs779630794 CA338864036	433	P>R		No	ClinGen ExAC gnomAD
CA664398 rs757799770	434	A>V		No	ClinGen ExAC gnomAD
CA338864023 rs1482284477	435	A>T		No	ClinGen gnomAD
CA338864012 rs1267679480	435	A>V		No	ClinGen gnomAD
CA664396 rs765024931	438	T>A		No	ClinGen ExAC TOPMed gnomAD
CA338863969 rs756951648	438	T>I		No	ClinGen ExAC TOPMed gnomAD
rs756951648 CA664395	438	T>S		No	ClinGen ExAC TOPMed gnomAD
CA664394 rs148337892	439	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA19027659 rs576890350	440	S>G		No	ClinGen Ensembl
CA664393 rs767922792	440	S>N		No	ClinGen ExAC TOPMed gnomAD
CA338863936 rs1287990374	441	S>Y		No	ClinGen gnomAD
CA664391 rs774669063	442	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1348092939 CA338863915	443	S>R		No	ClinGen gnomAD
CA19027649 rs978497934	444	A>T		No	ClinGen TOPMed gnomAD
CA664388 rs141254078	446	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA664386 rs748364883	446	I>M		No	ClinGen ExAC gnomAD
rs141254078 CA664387	446	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA338863829 rs1558343858	449	Q>R		No	ClinGen Ensembl
CA664385 rs776415992	452	L>V		No	ClinGen ExAC gnomAD
CA664383 rs746991063	454	E>D		No	ClinGen ExAC gnomAD
CA19027627 rs935571803	456	E>K		No	ClinGen gnomAD
rs772018260 CA664381	457	S>N		No	ClinGen ExAC gnomAD
CA664378 rs756970110	458	I>K		No	ClinGen ExAC gnomAD
rs778558002 CA664379	458	I>V		No	ClinGen ExAC TOPMed gnomAD
rs575873717 CA664377	460	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338863731 rs1314213453	460	T>I		No	ClinGen gnomAD
CA664376 rs575873717	460	T>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1181158991 CA338863726	461	C>S		No	ClinGen TOPMed
rs751920027 CA664374	466	A>E		No	ClinGen ExAC TOPMed gnomAD
CA338863691 rs1386036869	466	A>T		No	ClinGen gnomAD
CA338863673 rs1322480757	468	E>D		No	ClinGen gnomAD
rs1435103218 CA338863654	471	N>Y		No	ClinGen gnomAD
rs1387267056 CA338863642	472	K>N		No	ClinGen gnomAD
rs766843765 CA664373	473	I>T		No	ClinGen ExAC gnomAD
rs1467245480 CA338863622	475	V>A		No	ClinGen gnomAD
rs750568117 CA338863609	477	A>G		No	ClinGen ExAC gnomAD
rs146540947 CA664372	477	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA664371 rs750568117	477	A>V		No	ClinGen ExAC gnomAD
COSM3803807 rs748539423 CA664370	478	D>Y	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs998275810 CA19027602	479	G>E		No	ClinGen TOPMed
rs762037396 CA664369	482	E>K		No	ClinGen ExAC gnomAD
CA338863569 rs1247477269	483	E>D		No	ClinGen gnomAD
CA338863574 rs1465800767	483	E>K		No	ClinGen gnomAD
rs1206948395 CA338863564	484	I>N		No	ClinGen gnomAD
rs1484336138 CA338863558	485	L>S		No	ClinGen gnomAD
rs1256833798 CA338863544	487	S>P		No	ClinGen gnomAD
CA338863524 rs1289809270	489	N>K		No	ClinGen TOPMed
CA338863511 rs1232182773	491	N>I		No	ClinGen gnomAD
rs1299628977 CA338863502	493	R>G		No	ClinGen TOPMed gnomAD
rs1015824251 CA19027595	495	S>G		No	ClinGen TOPMed gnomAD
rs760430268 CA664366	495	S>N		No	ClinGen ExAC
rs35176330 CA664365 VAR_034009	496	P>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA664363 rs755394280	498	P>L		No	ClinGen ExAC gnomAD
CA338863469 rs1573220519	498	P>S		No	ClinGen Ensembl
rs34255002 CA664328	500	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764164618 CA664329	500	Q>R		No	ClinGen ExAC gnomAD
CA338871531 rs1174061855	501	I>M		No	ClinGen gnomAD
rs752945777 CA664327	501	I>V		No	ClinGen ExAC gnomAD
CA664326 rs200085032	503	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA19050760 rs778091194	504	T>S		No	ClinGen TOPMed
rs200993489 CA19050752	505	V>I		No	ClinGen gnomAD
CA19050742 rs939140573	506	P>R		No	ClinGen TOPMed gnomAD
rs1156735918 CA338871494	508	T>A		No	ClinGen TOPMed
CA19050738 rs891017634	508	T>R		No	ClinGen Ensembl
CA664325 rs759438118	509	W>R		No	ClinGen ExAC gnomAD
rs1444879824 CA338871461	512	P>L		No	ClinGen gnomAD
rs774241963 CA664324	513	K>E		No	ClinGen ExAC TOPMed gnomAD
rs144289580 CA664323	514	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs147145515 CA338871446	515	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA664321 COSM1238772 rs772664825	515	R>Q	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA664322 rs147145515	515	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA664319 rs146673611	517	R>L		No	ClinGen 1000Genomes ExAC gnomAD
CA664318 COSM1205163 rs146673611	517	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs1343596232 CA338871422	520	E>K		No	ClinGen TOPMed gnomAD
CA664317 rs768152444	521	E>K		No	ClinGen ExAC gnomAD
CA664316 rs779188560	522	M>K		No	ClinGen ExAC gnomAD
CA664315 rs779188560	522	M>T		No	ClinGen ExAC gnomAD
CA664301 rs764692317	529	L>F		No	ClinGen ExAC
CA338871340 rs1389613186	529	L>P		No	ClinGen gnomAD
CA664300 rs138581454	530	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA19047786 rs373092626	531	A>T		No	ClinGen gnomAD
rs775953071 CA664299	533	E>Q		No	ClinGen ExAC gnomAD
CA664298 rs768308451	535	L>F		No	ClinGen ExAC gnomAD
CA664297 rs760250967	537	I>V		No	ClinGen ExAC
CA338871280 rs1326140200	538	D>E		No	ClinGen TOPMed
rs774760046 CA664296	539	K>E		No	ClinGen ExAC gnomAD
CA664295 rs150227207	540	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1275879380 CA338871207	548	M>I		No	ClinGen gnomAD
CA664293 COSM1185358 rs202235130	548	M>L	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs138284879 CA338871203	549	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs138284879 CA664292	549	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA664291 rs748274356	550	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA338871192 rs900784164	551	G>R		No	ClinGen gnomAD
CA19047687 rs900784164	551	G>R		No	ClinGen gnomAD
CA338871188 rs1157063299	551	G>V		No	ClinGen TOPMed
CA338871187 rs1355000973	552	F>I		No	ClinGen gnomAD
rs533633409 CA19047674	554	P>L		No	ClinGen TOPMed
CA19047659 rs370284743	557	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs370284743 CA664288	557	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA338871143 rs1439906536	558	P>S		No	ClinGen TOPMed gnomAD
rs935456960 CA19047651	559	S>P		No	ClinGen TOPMed gnomAD
rs529485745 CA664287 COSM349957	564	V>L	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA664286 rs758236418	567	V>M		No	ClinGen ExAC gnomAD
rs1349445622 CA338871069	569	E>G		No	ClinGen TOPMed
CA338871073 rs1213887741	569	E>K		No	ClinGen TOPMed
rs111670810 CA19047630	570	N>D		No	ClinGen Ensembl
rs1160917662 CA338871055	571	G>E		No	ClinGen gnomAD
CA664283 rs200147531	572	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA664282 rs376290938	574	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA664280 rs763586728	575	E>G		No	ClinGen ExAC gnomAD
CA338871019 rs1222321320	577	V>I		No	ClinGen gnomAD
COSM414645 CA664279 rs760373741	578	R>C	endometrium urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA338871010 rs1271424990	578	R>H		No	ClinGen TOPMed gnomAD
rs775097024 CA664278	579	N>S		No	ClinGen ExAC TOPMed gnomAD
CA338871000 rs1330141324	580	G>R		No	ClinGen gnomAD
CA664277 rs771676033	581	A>T		No	ClinGen ExAC TOPMed gnomAD
CA338870985 rs1294059372	582	E>D		No	ClinGen gnomAD
rs151338096 CA664275	582	E>G		No	ClinGen ESP ExAC gnomAD
rs868821095 CA19047577	583	S>I		No	ClinGen gnomAD
rs368851331 CA664274	584	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1047483760 CA19047550	585	S>F		No	ClinGen gnomAD
CA664273 rs781480996	586	E>D		No	ClinGen ExAC gnomAD
CA19047542 rs929090642	586	E>K		No	ClinGen TOPMed
rs768834027 CA664271	588	E>K		No	ClinGen ExAC gnomAD
rs1158767614 CA338870865	590	I>V		No	ClinGen gnomAD
rs747274284 CA664270	592	A>D		No	ClinGen ExAC gnomAD
rs758643138 CA664268	594	S>L		No	ClinGen ExAC TOPMed gnomAD
CA338870782 COSM325244 rs1468473851	595	G>R	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA338870700 rs1572411836	599	S>R		No	ClinGen Ensembl
CA338870634 rs1465481319	603	G>E		No	ClinGen gnomAD
rs149200521 CA664267	604	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA338870599 rs1260717399	605	T>I		No	ClinGen TOPMed
CA664266 rs145324079	606	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA664265 rs757282781	607	P>S		No	ClinGen ExAC gnomAD
CA338870540 rs1368750228	608	F>C		No	ClinGen gnomAD
CA664264 rs753702879	608	F>L		No	ClinGen ExAC TOPMed gnomAD
rs755990327 CA664244	614	K>N		No	ClinGen ExAC gnomAD
rs1218407767 CA338869904	614	K>Q		No	ClinGen TOPMed
CA338869894 rs1317853751	615	P>R		No	ClinGen TOPMed
COSM1338682 CA664243 rs752210615	616	T>A	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA664242 rs767011921	618	T>N		No	ClinGen ExAC gnomAD
rs754719494 CA664241	619	E>A		No	ClinGen ExAC gnomAD
rs1283996227 CA338869860	621	K>E		No	ClinGen TOPMed
rs1301940676 CA338869819	626	R>K		No	ClinGen gnomAD
rs762114309 CA664238	630	L>M		No	ClinGen ExAC gnomAD
COSM414647 rs764709894 CA664236	631	D>G	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs764709894 CA664237	631	D>V		No	ClinGen ExAC gnomAD
CA664234 rs775775814	632	F>L		No	ClinGen ExAC TOPMed gnomAD
CA664235 rs761196645	632	F>L		No	ClinGen ExAC gnomAD
CA664233 rs772028263	635	M>I		No	ClinGen ExAC gnomAD
CA19044503 rs763765741	635	M>K		No	ClinGen Ensembl
rs1445619644 CA338869734	639	I>V		No	ClinGen Ensembl
rs749099327 CA664229	647	P>S		No	ClinGen ExAC TOPMed gnomAD
rs777480360 CA664228	648	I>V		No	ClinGen ExAC TOPMed gnomAD
CA664227 rs756112842	649	S>N		No	ClinGen ExAC TOPMed gnomAD
rs756112842 CA338869666	649	S>T		No	ClinGen ExAC TOPMed gnomAD
CA338869636 rs1253680105	654	D>Y		No	ClinGen gnomAD
CA338868884 rs1284535734	656	I>M		No	ClinGen gnomAD
CA338868878 rs1206017554	657	N>D		No	ClinGen TOPMed gnomAD
rs572258210 CA19043149	658	Q>E		No	ClinGen 1000Genomes
rs935687390 CA19043148	659	P>H		No	ClinGen TOPMed
CA338868767 rs1572326847	663	M>I		No	ClinGen Ensembl
CA664202 rs750084515	663	M>K		No	ClinGen ExAC gnomAD
CA338868769 rs750084515	663	M>T		No	ClinGen ExAC gnomAD
CA664203 rs140416357	663	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs777228085 CA664200	664	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA664199 rs753062231	665	T>P		No	ClinGen ExAC TOPMed gnomAD
rs974684449 CA19043123	667	D>E		No	ClinGen TOPMed
CA664198 rs372089216 COSM1196730	669	R>Q	lung large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA664197 rs760026505	671	L>F		No	ClinGen ExAC gnomAD
CA19043088 rs200708817	672	P>L		No	ClinGen TOPMed gnomAD
rs965963565 CA19043068	673	R>Q		No	ClinGen TOPMed gnomAD
rs1454629234 CA338868616	676	D>E		No	ClinGen gnomAD
rs568335900 CA664194	677	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs535749148 CA664195	677	F>V		No	ClinGen 1000Genomes ExAC gnomAD
rs773391616 CA664193	680	A>G		No	ClinGen ExAC TOPMed gnomAD
rs769964659 CA664192	689	P>S		No	ClinGen ExAC TOPMed gnomAD
rs776429638 CA664190	694	V>I		No	ClinGen ExAC TOPMed gnomAD
rs773935562 CA664163	702	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA338867282 rs1469097889	706	P>R		No	ClinGen gnomAD
rs993056965 CA19038083	710	R>I		No	ClinGen TOPMed
CA664157 rs747296169	713	R>G		No	ClinGen ExAC gnomAD
CA338867079 rs1303452347	719	S>C		No	ClinGen gnomAD
CA338867061 rs1290261406	721	K>R		No	ClinGen gnomAD
rs748295917 CA19037994	723	D>A		No	ClinGen gnomAD
CA664152 rs757476528	723	D>E		No	ClinGen ExAC gnomAD
rs748295917 CA19038007	723	D>V		No	ClinGen gnomAD
rs754065830 CA664151	727	K>R		No	ClinGen ExAC gnomAD
rs763831589 CA664150	728	K>N		No	ClinGen ExAC gnomAD
rs760547820 CA664149	729	A>T		No	ClinGen ExAC gnomAD
CA338867007 rs1251292726	729	A>V		No	ClinGen gnomAD
rs866570678 CA19037944	730	E>K		No	ClinGen Ensembl
CA338866963 rs1188492027	734	K>E		No	ClinGen TOPMed gnomAD
CA338866964 rs1188492027	734	K>Q		No	ClinGen TOPMed gnomAD
rs767570490 CA664147	736	S>G		No	ClinGen ExAC gnomAD
CA19037904 rs977591814	737	Q>K		No	ClinGen Ensembl
CA19037899 rs781607687	737	Q>R		No	ClinGen gnomAD
rs759544375 CA664146	739	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1368128587 CA338866874	740	D>E		No	ClinGen TOPMed gnomAD
CA338866866 rs1319009457	741	S>C		No	ClinGen TOPMed
rs774067748 CA664144	741	S>N		No	ClinGen ExAC gnomAD
rs918565802 CA338866856	741	S>R		No	ClinGen gnomAD
rs918565802 CA19037882	741	S>R		No	ClinGen gnomAD
rs774067748 CA338866861	741	S>T		No	ClinGen ExAC gnomAD
CA338866847 rs201127143	742	Q>E		No	ClinGen ExAC gnomAD
CA664143 rs201127143	742	Q>K		No	ClinGen ExAC gnomAD
CA19037861 rs1031563724	742	Q>R		No	ClinGen TOPMed
CA338866827 rs1288603537	743	A>P		No	ClinGen gnomAD
CA664138 rs769284751	746	P>S		No	ClinGen ExAC gnomAD
CA664136 rs780327962	747	E>K		No	ClinGen ExAC TOPMed gnomAD
rs551699625 CA19037824	749	I>F		No	ClinGen 1000Genomes TOPMed gnomAD
CA19037830 rs551699625	749	I>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs1334958199 CA338866703	752	Q>R		No	ClinGen gnomAD
CA338866144 rs1328387133	753	E>G		No	ClinGen TOPMed
CA19032859 rs906110986	756	R>K		No	ClinGen Ensembl
rs950216111 CA19032856	759	R>Q		No	ClinGen Ensembl
CA338866064 rs1252592339	760	S>G		No	ClinGen gnomAD
CA338866060 COSM1338672 rs1195805020	760	S>N	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs766188203 CA664119	768	Q>E		No	ClinGen ExAC gnomAD
rs762546644 CA664118	771	N>Y		No	ClinGen ExAC gnomAD
rs1309777490 CA338865805	779	G>R		No	ClinGen TOPMed gnomAD
CA338865796 rs1392535671	779	G>V		No	ClinGen gnomAD
rs1270641654 CA338865736	785	E>Q		No	ClinGen gnomAD
rs142520007 CA664114	787	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1212980389 CA338865698	788	L>M		No	ClinGen gnomAD
CA338865637 rs1572101636	791	V>G		No	ClinGen Ensembl
rs746410638 CA664112	799	A>V		No	ClinGen ExAC gnomAD
CA338865489 rs1471689931	800	I>V		No	ClinGen gnomAD
rs779423351 CA664111	804	S>G		No	ClinGen ExAC TOPMed gnomAD
rs375841595 CA664110	805	F>Y		No	ClinGen ESP ExAC gnomAD
CA338865322 rs1215059821	810	A>T		No	ClinGen gnomAD
CA338865290 rs1316048374	812	M>L		No	ClinGen TOPMed gnomAD
rs749396089 COSM903525 CA664109	814	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1223598520 CA338865228	815	C>S		No	ClinGen TOPMed
rs1272167583 CA338865172	818	T>M		No	ClinGen gnomAD
rs932342010 CA19021233	820	K>T		No	ClinGen TOPMed
rs1299110531 CA338862666	822	P>H		No	ClinGen TOPMed
CA19021231 rs200168176	823	M>R		No	ClinGen Ensembl
CA338862663 rs1196276487	823	M>V		No	ClinGen gnomAD
CA664100 rs201372176	824	A>T		No	ClinGen ExAC TOPMed gnomAD
rs961844843 CA19021221	824	A>V		No	ClinGen Ensembl
rs1016663247 CA19021217	825	D>G		No	ClinGen Ensembl
rs750015478 CA664099	828	G>D		No	ClinGen ExAC gnomAD
CA664098 rs764637532	829	N>D		No	ClinGen ExAC gnomAD
CA19021202 rs370635546	829	N>S		No	ClinGen ESP TOPMed gnomAD
CA19021198 rs1041079880	831	V>M		No	ClinGen TOPMed
rs761501966 CA664097	834	R>Q		No	ClinGen ExAC gnomAD
rs1196872188 CA338862544	840	R>C		No	ClinGen TOPMed
rs376291508 CA19021189	840	R>H		No	ClinGen ESP TOPMed gnomAD
rs774519616 CA664093	843	K>E		No	ClinGen ExAC gnomAD
rs199672503 CA19021170	843	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1557984980 CA338862443	846	E>G		No	ClinGen Ensembl
rs1265267167 CA338862412	848	D>G		No	ClinGen TOPMed
rs773392985 CA664090	849	K>I		No	ClinGen ExAC TOPMed gnomAD
rs1393920809 CA338862355	852	D>N		No	ClinGen gnomAD
rs748202237 CA664088	853	D>A		No	ClinGen ExAC gnomAD
rs748202237 CA338862335	853	D>G		No	ClinGen ExAC gnomAD
rs1557984556 CA338862314	855	F>L		No	ClinGen Ensembl
rs1261555059 CA338862209	858	K>N		No	ClinGen TOPMed gnomAD
rs746806322 CA664085	858	K>Q		No	ClinGen ExAC gnomAD
rs1406699603 CA338862161	860	K>R		No	ClinGen gnomAD
rs1213619582 CA338861999	866	S>N		No	ClinGen gnomAD
CA338861969 rs1414031246	867	A>V		No	ClinGen TOPMed gnomAD
rs757124303 CA664063	871	R>K		No	ClinGen ExAC gnomAD
CA338861105 rs1292767310	872	T>A		No	ClinGen gnomAD
rs1282351638 CA338861098	873	R>K		No	ClinGen gnomAD
rs570848878 CA664061	875	H>L		No	ClinGen 1000Genomes ExAC gnomAD
rs570848878 CA664060	875	H>R		No	ClinGen 1000Genomes ExAC gnomAD
CA338861081 rs1354590273	876	D>N		No	ClinGen gnomAD
CA338861079 rs1354590273	876	D>Y		No	ClinGen gnomAD
CA338861072 rs1157644877	877	E>K		No	ClinGen TOPMed
rs78056283 CA19020844	882	K>E		No	ClinGen 1000Genomes
rs752262817 CA664059	885	A>G		No	ClinGen ExAC gnomAD
rs767162377 CA664058	886	R>Q		No	ClinGen ExAC gnomAD
rs1396254325 CA338861009	886	R>W		No	ClinGen gnomAD
CA664056 rs527823382	887	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA664057 rs141989247	887	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1180614823 CA338860988	890	I>F		No	ClinGen gnomAD
CA664055 rs765844062	890	I>T		No	ClinGen ExAC gnomAD
rs1180614823 CA338860989	890	I>V		No	ClinGen gnomAD
CA338860964 rs1178123292	893	I>M		No	ClinGen gnomAD
rs1267402059 CA338860959	894	K>R		No	ClinGen TOPMed
CA338860947 rs1275285661	896	I>L		No	ClinGen gnomAD
CA664052 rs768831847	903	K>R		No	ClinGen ExAC gnomAD
rs1196546612 CA338860840	908	A>T		No	ClinGen TOPMed
rs1488817022 CA338860813	910	M>V		No	ClinGen TOPMed
CA19020822 rs991300151	923	E>D		No	ClinGen TOPMed
CA664049 rs772284187	930	C>Y		No	ClinGen ExAC gnomAD
CA664048 rs745659570 COSM3934458	931	R>H	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1457149460 CA338860585	934	T>S		No	ClinGen gnomAD
rs1021873780 CA19020793	936	I>T		No	ClinGen Ensembl
rs749203770 CA664045	939	D>G		No	ClinGen ExAC gnomAD
CA338860557 rs1349644217	939	D>N		No	ClinGen gnomAD
CA338860529 rs1357281712	942	F>L		No	ClinGen TOPMed gnomAD
CA664024 rs777713554	948	R>C		No	ClinGen ExAC gnomAD
CA338860210 rs1396933783	948	R>H		No	ClinGen gnomAD
rs769718606 CA664023	949	M>V		No	ClinGen ExAC TOPMed gnomAD
CA664022 rs780750227	953	F>L		No	ClinGen ExAC gnomAD
CA338860060 rs1187978208	956	M>V		No	ClinGen gnomAD
CA664020 rs754646748	957	E>K		No	ClinGen ExAC gnomAD
CA19019285 COSM109383 rs140595857	963	R>K	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA664019 rs751236068	965	T>I		No	ClinGen ExAC TOPMed gnomAD
rs779458459 CA664018	966	S>L		No	ClinGen ExAC gnomAD
CA338859811 rs1280351968	966	S>P		No	ClinGen gnomAD
rs1310006372 CA338859786	967	S>F		No	ClinGen gnomAD
rs1297266088 CA338859764	969	I>V		No	ClinGen gnomAD
CA664015 rs764707876	970	R>Q		No	ClinGen ExAC gnomAD
COSM903507 rs539091547 CA664017	970	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA338859668 rs1208915787	972	M>I		No	ClinGen TOPMed
CA664012 rs767619921	976	V>I		No	ClinGen ExAC gnomAD
CA338859559 rs1376063237	977	I>T		No	ClinGen gnomAD
rs940615029 CA19019221	977	I>V		No	ClinGen Ensembl
CA19019217 rs12404749	980	R>K		No	ClinGen Ensembl
rs564405901 CA338858568	982	C>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338858571 rs564405901	982	C>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs564405901 CA663989	982	C>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338858515 rs1214800967	983	N>K		No	ClinGen TOPMed
CA663988 rs767874521 COSM182901	983	N>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs371437559 CA19018049	985	V>I		No	ClinGen ESP TOPMed
rs1039436423 CA19018026	986	S>F		No	ClinGen Ensembl
rs755775141 CA19018004	987	R>Q		No	ClinGen Ensembl
COSM211440 rs1186722280 CA338858427	988	R>K	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
CA663985 rs766597088	994	K>E		No	ClinGen ExAC gnomAD
CA338858268 rs773049619	997	E>*		No	ClinGen ExAC TOPMed gnomAD
CA663983 rs773049619 COSM182899	997	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA663982 rs765060942	1006	E>Q		No	ClinGen ExAC gnomAD
rs1366544893 CA338858100	1008	Q>K		No	ClinGen TOPMed
rs1288203556 CA338858086	1009	E>D		No	ClinGen gnomAD
CA338858055 rs1361280326	1013	K>N		No	ClinGen TOPMed
CA338858057 rs1429028768	1013	K>R		No	ClinGen TOPMed
CA338858049 rs1337393888	1014	V>A		No	ClinGen gnomAD
rs756663012 CA663978	1018	M>L		No	ClinGen ExAC TOPMed gnomAD
rs756663012 CA663979	1018	M>V		No	ClinGen ExAC TOPMed gnomAD
CA338858011 rs1216546726	1019	T>I		No	ClinGen gnomAD
rs559289896 CA663975	1025	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA663976 rs559289896	1025	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338857935 rs10916883	1026	G>R		No	ClinGen gnomAD
CA19017876 rs10916883	1026	G>S		No	ClinGen gnomAD
rs759299286 CA663956	1026	G>V		No	ClinGen ExAC gnomAD
rs1331923499 CA338857511	1027	V>I		No	ClinGen gnomAD
CA338857465 rs1322580080	1029	R>S		No	ClinGen gnomAD
rs1386954741 CA338857399	1032	E>K		No	ClinGen gnomAD
CA663954 rs770435824	1033	G>D		No	ClinGen ExAC gnomAD
CA338857344 rs1377917102	1034	G>E		No	ClinGen gnomAD
rs1421845981 CA338857354	1034	G>R		No	ClinGen TOPMed
rs781410880 CA663952	1035	W>R		No	ClinGen ExAC gnomAD
rs1190142538 CA338857322	1036	N>D		No	ClinGen TOPMed
rs1557946321 CA338857260	1038	V>A		No	ClinGen Ensembl
CA663951 rs141698528	1038	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA663948 rs758506556 COSM3789454	1045	R>Q	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA19015233 rs902638122	1050	S>A		No	ClinGen Ensembl
rs1488266964 CA338856988	1052	F>I		No	ClinGen gnomAD
rs369960437 CA663945	1052	F>S		No	ClinGen ESP ExAC gnomAD
CA338856957 rs1482126743	1054	K>E		No	ClinGen TOPMed
CA663942 rs752648529	1056	T>A		No	ClinGen ExAC TOPMed gnomAD
rs752648529 CA663941	1056	T>S		No	ClinGen ExAC TOPMed gnomAD
rs559554181 CA663922	1058	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1557934784 CA338855384	1061	D>G		No	ClinGen Ensembl
rs1240445277 CA338855305	1067	V>I		No	ClinGen gnomAD
CA338855073 rs1324923248	1082	G>R		No	ClinGen gnomAD
CA338855059 rs1204972843	1083	A>T		No	ClinGen TOPMed
rs113117821 CA663919	1085	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs113117821 CA19013124	1085	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1184088421 CA338855016	1086	S>G		No	ClinGen gnomAD
CA338854972 rs1571708001	1088	T>I		No	ClinGen Ensembl
CA338854805 rs1237441812	1090	A>G		No	ClinGen TOPMed gnomAD
CA663894 rs767751266	1092	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs148411054 CA663895	1092	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA338854788 rs1349717433	1093	S>*		No	ClinGen gnomAD
rs771419224 CA663891	1094	S>G		No	ClinGen ExAC TOPMed gnomAD
CA663890 rs749386402	1095	A>G		No	ClinGen ExAC gnomAD
rs866962433 CA19011920	1095	A>S		No	ClinGen Ensembl
rs749386402 CA338854777	1095	A>V		No	ClinGen ExAC gnomAD
CA338854776 rs1304098941	1096	S>P		No	ClinGen TOPMed gnomAD
CA663889 rs773422645	1097	S>G		No	ClinGen ExAC TOPMed gnomAD
CA663887 rs748359449	1103	A>S		No	ClinGen ExAC gnomAD
rs1044251532 CA19011891	1104	L>P		No	ClinGen TOPMed gnomAD
rs1044251532 CA338854719	1104	L>R		No	ClinGen TOPMed gnomAD
CA338854712 rs1571680189	1105	Q>H		No	ClinGen Ensembl
CA663884 rs746773659	1108	A>V		No	ClinGen ExAC gnomAD
CA19011870 rs947024198	1109	P>H		No	ClinGen TOPMed
rs749999701 CA663881	1111	G>W		No	ClinGen ExAC gnomAD
rs115653489 CA663880	1113	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1017882717 CA19011853	1114	P>L		No	ClinGen Ensembl
rs756948454 COSM903489 CA663879	1116	T>M	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA338854634 rs1451706538	1119	E>G		No	ClinGen gnomAD
rs1557926144 CA338854609	1122	S>F		No	ClinGen Ensembl
rs368417199 CA19011802	1123	R>Q		No	ClinGen ESP TOPMed gnomAD
rs763760222 CA663877	1124	R>S		No	ClinGen ExAC gnomAD
CA338854543 rs1171327726	1126	L>I		No	ClinGen gnomAD
rs759837872 CA663876	1126	L>S		No	ClinGen ExAC TOPMed gnomAD
COSM1501134 CA663862 rs745779320	1129	R>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs893644857 CA19010121	1130	G>V		No	ClinGen TOPMed
CA338853255 rs1256197496	1136	K>R		No	ClinGen gnomAD
rs1571639711 CA338853238	1138	D>G		No	ClinGen Ensembl
rs756790966 CA663860	1139	K>R		No	ClinGen ExAC TOPMed gnomAD
CA663859 rs753295609	1142	P>L		No	ClinGen ExAC gnomAD
rs376376632 CA19010112	1144	A>T		No	ClinGen ESP gnomAD
rs1557915691 CA338853172	1145	T>I		No	ClinGen Ensembl
rs781622563 CA338853156	1147	R>G		No	ClinGen ExAC TOPMed gnomAD
CA663858 rs781622563	1147	R>W		No	ClinGen ExAC TOPMed gnomAD
CA338853098 rs1395536916	1151	F>L		No	ClinGen gnomAD
CA19010103 rs979189885	1151	F>S		No	ClinGen TOPMed gnomAD
rs751927582 CA663856	1152	M>R		No	ClinGen ExAC gnomAD
rs1333608090 CA338853086	1153	R>K		No	ClinGen gnomAD
CA663855 rs766745189	1154	G>D		No	ClinGen ExAC TOPMed gnomAD
rs200991037 CA663854	1155	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA338853074 rs1279399723	1155	G>V		No	ClinGen TOPMed
CA663853 rs751003279	1159	D>E		No	ClinGen ExAC gnomAD
rs757549841 CA19010083	1161	L>P		No	ClinGen Ensembl
CA663852 rs765794713	1162	D>E		No	ClinGen ExAC gnomAD
rs762000404 CA663851	1163	N>D		No	ClinGen ExAC TOPMed gnomAD
rs776709324 CA663850	1163	N>S		No	ClinGen ExAC gnomAD
rs910886287 CA19010057	1165	S>F		No	ClinGen Ensembl
rs375971685 CA663848	1167	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA338852867 rs375971685	1167	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA19010034 rs112888144	1168	E>G		No	ClinGen Ensembl
CA663845 rs541460610	1170	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs541460610 CA663846	1170	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338852805 rs1457057978	1170	R>W		No	ClinGen gnomAD
CA663842 rs748818692	1172	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1402447573 CA338852766	1172	E>K		No	ClinGen TOPMed
CA663843 rs748818692	1172	E>V		No	ClinGen ExAC TOPMed gnomAD
CA19009938 rs1029605634	1177	V>M		No	ClinGen TOPMed gnomAD
CA338852585 rs1448911640	1179	Q>E		No	ClinGen TOPMed gnomAD
rs1396882831 CA338852551	1180	L>H		No	ClinGen gnomAD
CA338852530 rs1241101383	1181	T>I		No	ClinGen gnomAD
CA338852492 rs1250670845	1184	V>M		No	ClinGen TOPMed
VAR_048925 rs2230572 CA663838	1185	D>E		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA338852443 rs1448096226	1186	V>M		No	ClinGen TOPMed
rs369339514 CA663836	1192	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1292840982 CA338852351	1193	A>T		No	ClinGen gnomAD
CA19009914 rs143244771	1193	A>V		No	ClinGen ESP
CA663833 rs545378523	1195	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338852292 rs1347338717	1197	K>E		No	ClinGen TOPMed
rs1304414702 CA338852276	1198	T>A		No	ClinGen TOPMed
rs1233899853 CA338852267	1199	R>G		No	ClinGen TOPMed
CA663831 COSM532398 rs34661194	1200	E>D	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs760844117 CA663830	1201	S>T		No	ClinGen ExAC gnomAD
rs890792882 CA19008551	1203	K>T		No	ClinGen TOPMed
rs1571607058 CA338852092	1204	P>R		No	ClinGen Ensembl
rs1312307736 CA338852096	1204	P>S		No	ClinGen gnomAD
CA663800 rs376068662	1208	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1377194207 CA338852018	1209	M>T		No	ClinGen TOPMed
rs1282306674 CA338852026	1209	M>V		No	ClinGen TOPMed gnomAD
rs769565306 CA663799	1212	H>P		No	ClinGen ExAC gnomAD
CA663798 rs769565306	1212	H>R		No	ClinGen ExAC gnomAD
rs1557905141 CA338851966	1212	H>Y		No	ClinGen Ensembl
rs1262201289 CA338851894	1215	A>D		No	ClinGen gnomAD
CA663797 rs776279247	1215	A>P		No	ClinGen ExAC TOPMed gnomAD
CA663796 rs776279247	1215	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1221475110 CA338851879	1216	A>T		No	ClinGen gnomAD
CA663795 rs149032365	1220	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs945419661 CA19008510	1222	L>V		No	ClinGen Ensembl
rs146529769 CA663793	1225	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs146529769 CA338851620	1225	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA663792 rs771354079	1225	K>R		No	ClinGen ExAC gnomAD
rs1401077114 CA338851543	1226	S>L		No	ClinGen TOPMed gnomAD
CA338851534 rs1212649321	1227	K>I		No	ClinGen TOPMed
rs778357165 CA663790	1229	I>V		No	ClinGen ExAC TOPMed gnomAD
rs989457818 CA19008485	1231	D>E		No	ClinGen TOPMed
rs752839879 CA663788	1236	I>M		No	ClinGen ExAC gnomAD
rs1475387650 CA338851213	1238	D>N		No	ClinGen TOPMed gnomAD
rs1289197246 CA338848274	1242	A>T		No	ClinGen gnomAD
CA663760 rs748624403	1243	M>V		No	ClinGen ExAC gnomAD
CA338848157 rs1441718543	1245	C>Y		No	ClinGen gnomAD
rs1160831286 CA338848138	1246	V>M		No	ClinGen TOPMed
CA663759 rs781634561	1247	E>K		No	ClinGen ExAC gnomAD
rs751584449 CA663757	1248	E>Q		No	ClinGen ExAC gnomAD
rs780331433 CA663756	1248	E>V		No	ClinGen ExAC gnomAD
rs750293651 CA663754	1255	L>P		No	ClinGen ExAC gnomAD
CA338847794 rs1331711107	1263	V>L		No	ClinGen Ensembl
CA663753 rs370229268	1264	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA19003421 rs370229268	1264	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1350836208 CA338847787	1264	E>Q		No	ClinGen gnomAD
rs761879638 CA663752	1265	S>F		No	ClinGen ExAC gnomAD
rs547249434 CA19003416	1266	T>I		No	ClinGen 1000Genomes
CA663751 COSM903483 rs753853391	1270	S>R	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA663750 rs200144644	1271	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
CA663749 rs760274525	1271	Q>R		No	ClinGen ExAC gnomAD
CA19003396 rs979359339	1277	M>V		No	ClinGen gnomAD
rs2230573 CA338847423	1280	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2230573 CA338847406	1280	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA663746 rs759095381	1281	L>F		No	ClinGen ExAC gnomAD
rs1191564058 CA338847287	1285	V>I		No	ClinGen gnomAD
CA663744 rs770088312	1287	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1488313673 CA338847057	1293	Q>E		No	ClinGen gnomAD
rs556542858 CA19003340	1293	Q>R		No	ClinGen gnomAD
CA663741 rs769087957	1297	K>R		No	ClinGen ExAC gnomAD
CA663720 rs747496059	1302	T>A		No	ClinGen ExAC gnomAD
CA338860248 rs747496059	1302	T>S		No	ClinGen ExAC gnomAD
CA338860246 rs1466890272	1302	T>S		No	ClinGen Ensembl
rs775676488 CA663719	1306	A>V		No	ClinGen ExAC gnomAD
CA338860185 rs921187861	1307	D>A		No	ClinGen TOPMed gnomAD
CA19010597 rs921187861	1307	D>V		No	ClinGen TOPMed gnomAD
rs373428626 CA663717	1309	M>I		No	ClinGen ESP ExAC
rs1337598989 CA338860147	1309	M>V		No	ClinGen gnomAD
CA338860134 rs1452252890	1310	A>T		No	ClinGen gnomAD
rs779013085 CA663716	1311	I>V		No	ClinGen ExAC TOPMed gnomAD
CA338860068 rs1180193324	1313	I>T		No	ClinGen TOPMed
CA19010571 rs968258069	1313	I>V		No	ClinGen TOPMed
rs1482204398 CA338860030	1315	H>R		No	ClinGen TOPMed
CA338859851 rs1205608017	1325	T>N		No	ClinGen TOPMed
rs1482630823 CA338859823	1327	M>L		No	ClinGen TOPMed
rs111817671 CA663714 RCV000968819	1327	M>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs777698367 CA663713	1335	M>L		No	ClinGen ExAC gnomAD
CA663712 rs370204664	1336	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs767440408 CA663711	1340	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1385375031 CA338859563	1340	I>T		No	ClinGen gnomAD
rs767440408 CA663710	1340	I>V		No	ClinGen ExAC TOPMed gnomAD
CA338858465 rs1258967486	1341	E>D		No	ClinGen TOPMed
rs544417261 COSM903474 CA663688	1342	F>L	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs544417261 CA19009438	1342	F>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338858443 rs1292500781	1343	S>R		No	ClinGen gnomAD
rs1357443483 CA338858338	1349	V>I		No	ClinGen gnomAD
rs746703453 CA19009427	1350	G>R		No	ClinGen TOPMed
CA663687 rs764817596	1352	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1240092797 CA338858294	1353	G>A		No	ClinGen TOPMed gnomAD
CA663685 rs753035646	1364	C>F		No	ClinGen ExAC gnomAD
rs968900083 CA19009404	1365	K>R		No	ClinGen TOPMed
rs767974703 CA663684	1366	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA663655 rs766936712	1369	H>L		No	ClinGen ExAC TOPMed gnomAD
CA663656 rs766936712	1369	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1416889108 CA338857739	1373	G>V		No	ClinGen TOPMed
CA338857690 rs1359762974	1375	L>F		No	ClinGen TOPMed
CA338857697 rs1169231492	1375	L>S		No	ClinGen gnomAD
rs763130083 CA663654	1377	R>K		No	ClinGen ExAC gnomAD
CA663653 rs773422813	1378	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1475552391 CA338857467	1382	S>N		No	ClinGen TOPMed gnomAD
rs776335561 CA663650	1384	K>E		No	ClinGen ExAC gnomAD
rs1194008007 CA338857289	1386	F>L		No	ClinGen gnomAD
rs1423054177 CA338857175	1390	G>R		No	ClinGen TOPMed
CA338857121 rs745446732	1392	D>E		No	ClinGen ExAC TOPMed gnomAD
CA663646 rs771927406	1392	D>G		No	ClinGen ExAC gnomAD
CA663645 rs771927406	1392	D>V		No	ClinGen ExAC gnomAD
CA338857096 rs1262301943	1394	H>N		No	ClinGen TOPMed gnomAD
rs1221567863 CA338857038	1397	L>F		No	ClinGen gnomAD
rs370587520 CA663625	1402	L>F		No	ClinGen ESP ExAC gnomAD
CA338854554 rs1348025315	1404	F>L		No	ClinGen TOPMed
rs773772573 CA338854541	1405	I>L		No	ClinGen ExAC gnomAD
rs773772573 CA663623	1405	I>L		No	ClinGen ExAC gnomAD
CA663622 rs770505543	1405	I>M		No	ClinGen ExAC TOPMed gnomAD
CA663621 rs748698088	1407	S>A		No	ClinGen ExAC TOPMed gnomAD
rs777487330 CA663620	1407	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1165548164 CA338854490	1408	D>G		No	ClinGen gnomAD
rs375028441 CA663619	1408	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA338854412 rs1182050860	1412	S>F		No	ClinGen gnomAD
CA338854375 rs1233290286	1415	A>G		No	ClinGen gnomAD
rs1557762946 CA338854352	1418	K>E		No	ClinGen Ensembl
rs977077380 CA19003888	1418	K>N		No	ClinGen TOPMed
CA663613 rs757368302	1418	K>R		No	ClinGen ExAC gnomAD
rs1222567302 CA338854308	1420	E>D		No	ClinGen gnomAD
rs1293253215 CA338854312	1420	E>G		No	ClinGen gnomAD
rs753789653 CA663612	1420	E>K		No	ClinGen ExAC
CA663611 rs764440819	1421	L>M		No	ClinGen ExAC gnomAD
CA338854300 rs1289104248	1421	L>P		No	ClinGen gnomAD
CA663610 rs760872170	1422	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1280534864 CA338854279	1423	A>D		No	ClinGen gnomAD
CA663607 rs759286296 COSM3803792	1424	E>K	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs377450200 CA19003848	1425	E>G		No	ClinGen ESP TOPMed
CA663606 rs774368352	1425	E>Q		No	ClinGen ExAC gnomAD
CA19003839 rs1021944126	1427	Y>C		No	ClinGen Ensembl
rs770707628 CA663605	1428	K>E		No	ClinGen ExAC TOPMed gnomAD
rs762591581 CA663604	1429	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA663602 rs769621340	1431	E>K		No	ClinGen ExAC gnomAD
CA338854113 rs1408362348	1432	K>E		No	ClinGen gnomAD
rs569031168 CA19003792	1435	I>N		No	ClinGen 1000Genomes gnomAD
rs569031168 CA338854043	1435	I>T		No	ClinGen 1000Genomes gnomAD
rs369387327 CA338853951	1439	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs369387327 CA663599	1439	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1217516954 CA338853798	1448	V>A		No	ClinGen TOPMed
CA19003771 rs890463663	1448	V>I		No	ClinGen TOPMed gnomAD
rs984507410 CA19002484	1452	L>V		No	ClinGen TOPMed gnomAD
rs761362334 CA338852889	1453	D>E		No	ClinGen ExAC TOPMed gnomAD
CA338852896 rs1570854939	1453	D>G		No	ClinGen Ensembl
CA663582 rs769463170	1453	D>N		No	ClinGen ExAC gnomAD
CA663580 rs776441355	1454	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1337149458 CA338852814	1457	M>I		No	ClinGen gnomAD
rs1281832516 CA338852794	1459	S>T		No	ClinGen gnomAD
rs746307703 CA663578	1460	P>S		No	ClinGen ExAC gnomAD
CA338852705 rs1305727193	1465	A>S		No	ClinGen gnomAD
rs1305727193 CA338852709	1465	A>T		No	ClinGen gnomAD
rs1426179498 CA338852659	1468	T>A		No	ClinGen gnomAD
rs1172522036 CA338852514	1475	I>V		No	ClinGen gnomAD
rs1418229412 CA338852474	1476	I>M		No	ClinGen gnomAD
CA19002467 rs928688984	1476	I>T		No	ClinGen gnomAD
CA663561 rs367637862	1477	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs763894341 CA663559	1478	D>N		No	ClinGen ExAC gnomAD
rs760219845 CA663558	1480	S>P		No	ClinGen ExAC gnomAD
rs774815774 CA663557	1481	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1250771114 CA338851483	1481	T>I		No	ClinGen gnomAD
rs771228977 CA663556	1482	F>Y		No	ClinGen ExAC
rs749614914 CA663555	1485	D>N		No	ClinGen ExAC gnomAD
CA338851348 rs1292732760	1488	V>I		No	ClinGen gnomAD
rs1180223329 CA338851296	1490	K>R		No	ClinGen gnomAD
CA338851233 rs140835644	1493	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA663553 rs140835644	1493	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs867694914 CA19001654	1494	P>L		No	ClinGen Ensembl
rs781227690 CA338851120	1498	K>N		No	ClinGen ExAC gnomAD
CA663550 rs755270163	1502	S>A		No	ClinGen ExAC TOPMed gnomAD
CA663549 rs747228764	1503	D>N		No	ClinGen ExAC TOPMed gnomAD
CA663547 rs542110540	1504	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1557717386 CA338850756	1514	L>V		No	ClinGen Ensembl
rs540049329 CA19001623	1517	S>L		No	ClinGen gnomAD
rs1025261137 CA19001620	1518	I>V		No	ClinGen TOPMed
CA663539 rs767139681	1519	V>L		No	ClinGen ExAC gnomAD
CA663538 rs763311841	1522	D>N		No	ClinGen ExAC
rs773552891 CA663537	1523	Q>H		No	ClinGen ExAC gnomAD
CA338849519 rs1282632284	1529	R>Q		No	ClinGen TOPMed gnomAD
rs1324206554 CA338849520	1529	R>W		No	ClinGen gnomAD
CA19000671 rs1037917085	1531	F>V		No	ClinGen Ensembl
rs1405467983 CA338849459	1537	D>G		No	ClinGen gnomAD
CA663515 rs769137304	1544	D>Y		No	ClinGen ExAC gnomAD
CA338849318 rs1369525095	1548	K>R		No	ClinGen TOPMed
CA338849323 rs1369525095 COSM903455	1548	K>T	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
rs573551412 CA663514	1549	W>C		No	ClinGen 1000Genomes ExAC gnomAD
rs775631377 CA663513	1553	K>N		No	ClinGen ExAC gnomAD
CA663512 rs772236365	1554	D>N		No	ClinGen ExAC gnomAD
CA338848974 rs1298553312	1559	N>S		No	ClinGen TOPMed
rs1384483590 CA338848894	1561	K>R		No	ClinGen TOPMed
CA19000643 rs371347072	1563	V>M		No	ClinGen ESP TOPMed gnomAD
CA663511 rs746060850	1565	L>P		No	ClinGen ExAC gnomAD
CA19000637 rs866320837	1567	S>F		No	ClinGen Ensembl
rs762356088 CA338848730	1569	T>K		No	ClinGen ExAC TOPMed gnomAD
rs762356088 CA663510	1569	T>M		No	ClinGen ExAC TOPMed gnomAD
rs762356088 CA338848726	1569	T>R		No	ClinGen ExAC TOPMed gnomAD
CA19000628 rs867114309	1570	A>T		No	ClinGen TOPMed gnomAD
CA663508 rs749034314	1573	T>M		No	ClinGen ExAC gnomAD

No associated diseases with O43432

3 regional properties for O43432

Type	Name	Position	InterPro Accession
domain	W2 domain	1416 - 1585	IPR003307
domain	MIF4G-like, type 3	755 - 983	IPR003890
domain	Initiation factor eIF-4 gamma, MA3	1221 - 1343	IPR003891

Functions

		Description
EC Number
Subcellular Localization
PANTHER Family	PTHR23253	EUKARYOTIC TRANSLATION INITIATION FACTOR 4 GAMMA
PANTHER Subfamily	PTHR23253:SF23	EUKARYOTIC TRANSLATION INITIATION FACTOR 4 GAMMA 3
PANTHER Protein Class	translation initiation factor translation factor translational protein
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
eukaryotic translation initiation factor 4F complex	The eukaryotic translation initiation factor 4F complex is composed of eIF4E, eIF4A and eIF4G; it is involved in the recognition of the mRNA cap, ATP-dependent unwinding of the 5'-terminal secondary structure and recruitment of the mRNA to the ribosome.

5 GO annotations of molecular function

Name	Definition
mRNA binding	Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns.
RNA binding	Binding to an RNA molecule or a portion thereof.
RNA cap binding	Binding to a 7-methylguanosine (m7G) group or derivative located at the 5' end of an RNA molecule.
translation factor activity, RNA binding	Functions during translation by binding to RNA during polypeptide synthesis at the ribosome.
translation initiation factor activity	Functions in the initiation of ribosome-mediated translation of mRNA into a polypeptide.

1 GO annotations of biological process

Name	Definition
regulation of translational initiation	Any process that modulates the frequency, rate or extent of translational initiation.

9 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q41583		Eukaryotic translation initiation factor isoform 4G-2	Triticum aestivum (Wheat)	PR
Q95L46	EIF4G2	Eukaryotic translation initiation factor 4 gamma 2	Bos taurus (Bovine)	PR
Q9H074	PAIP1	Polyadenylate-binding protein-interacting protein 1	Homo sapiens (Human)	PR
P78344	EIF4G2	Eukaryotic translation initiation factor 4 gamma 2	Homo sapiens (Human)	PR
Q04637	EIF4G1	Eukaryotic translation initiation factor 4 gamma 1	Homo sapiens (Human)	EV
Q8VE62	Paip1	Polyadenylate-binding protein-interacting protein 1	Mus musculus (Mouse)	PR
Q62448	Eif4g2	Eukaryotic translation initiation factor 4 gamma 2	Mus musculus (Mouse)	PR
Q6NZJ6	Eif4g1	Eukaryotic translation initiation factor 4 gamma 1	Mus musculus (Mouse)	SS
Q80XI3	Eif4g3	Eukaryotic translation initiation factor 4 gamma 3	Mus musculus (Mouse)	SS

10	20	30	40	50	60
MNSQPQTRSP	FFQRPQIQPP	RATIPNSSPS	IRPGAQTPTA	VYQANQHIMM	VNHLPMPYPV
70	80	90	100	110	120
PQGPQYCIPQ	YRHSGPPYVG	PPQQYPVQPP	GPGPFYPGPG	PGDFPNAYGT	PFYPSQPVYQ
130	140	150	160	170	180
SAPIIVPTQQ	QPPPAKREKK	TIRIRDPNQG	GKDITEEIMS	GGGSRNPTPP	IGRPTSTPTP
190	200	210	220	230	240
PQQLPSQVPE	HSPVVYGTVE	SAHLAASTPV	TAASDQKQEE	KPKPDPVLKS	PSPVLRLVLS
250	260	270	280	290	300
GEKKEQEGQT	SETTAIVSIA	ELPLPPSPTT	VSSVARSTIA	APTSSALSSQ	PIFTTAIDDR
310	320	330	340	350	360
CELSSPREDT	IPIPSLTSCT	ETSDPLPTNE	NDDDICKKPC	SVAPNDIPLV	SSTNLINEIN
370	380	390	400	410	420
GVSEKLSATE	SIVEIVKQEV	LPLTLELEIL	ENPPEEMKLE	CIPAPITPST	VPSFPPTPPT
430	440	450	460	470	480
PPASPPHTPV	IVPAAATTVS	SPSAAITVQR	VLEEDESIRT	CLSEDAKEIQ	NKIEVEADGQ
490	500	510	520	530	540
TEEILDSQNL	NSRRSPVPAQ	IAITVPKTWK	KPKDRTRTTE	EMLEAELELK	AEEELSIDKV
550	560	570	580	590	600
LESEQDKMSQ	GFHPERDPSD	LKKVKAVEEN	GEEAEPVRNG	AESVSEGEGI	DANSGSTDSS
610	620	630	640	650	660
GDGVTFPFKP	ESWKPTDTEG	KKQYDREFLL	DFQFMPACIQ	KPEGLPPISD	VVLDKINQPK
670	680	690	700	710	720
LPMRTLDPRI	LPRGPDFTPA	FADFGRQTPG	GRGVPLLNVG	SRRSQPGQRR	EPRKIITVSV
730	740	750	760	770	780
KEDVHLKKAE	NAWKPSQKRD	SQADDPENIK	TQELFRKVRS	ILNKLTPQMF	NQLMKQVSGL
790	800	810	820	830	840
TVDTEERLKG	VIDLVFEKAI	DEPSFSVAYA	NMCRCLVTLK	VPMADKPGNT	VNFRKLLLNR
850	860	870	880	890	900
CQKEFEKDKA	DDDVFEKKQK	ELEAASAPEE	RTRLHDELEE	AKDKARRRSI	GNIKFIGELF
910	920	930	940	950	960
KLKMLTEAIM	HDCVVKLLKN	HDEESLECLC	RLLTTIGKDL	DFEKAKPRMD	QYFNQMEKIV
970	980	990	1000	1010	1020
KERKTSSRIR	FMLQDVIDLR	LCNWVSRRAD	QGPKTIEQIH	KEAKIEEQEE	QRKVQQLMTK
1030	1040	1050	1060	1070	1080
EKRRPGVQRV	DEGGWNTVQG	AKNSRVLDPS	KFLKITKPTI	DEKIQLVPKA	QLGSWGKGSS
1090	1100	1110	1120	1130	1140
GGAKASETDA	LRSSASSLNR	FSALQPPAPS	GSTPSTPVEF	DSRRTLTSRG	SMGREKNDKP
1150	1160	1170	1180	1190	1200
LPSATARPNT	FMRGGSSKDL	LDNQSQEEQR	REMLETVKQL	TGGVDVERNS	TEAERNKTRE
1210	1220	1230	1240	1250	1260
SAKPEISAMS	AHDKAALSEE	ELERKSKSII	DEFLHINDFK	EAMQCVEELN	AQGLLHVFVR
1270	1280	1290	1300	1310	1320
VGVESTLERS	QITRDHMGQL	LYQLVQSEKL	SKQDFFKGFS	ETLELADDMA	IDIPHIWLYL
1330	1340	1350	1360	1370	1380
AELVTPMLKE	GGISMRELTI	EFSKPLLPVG	RAGVLLSEIL	HLLCKQMSHK	KVGALWREAD
1390	1400	1410	1420	1430	1440
LSWKDFLPEG	EDVHNFLLEQ	KLDFIESDSP	CSSEALSKKE	LSAEELYKRL	EKLIIEDKAN
1450	1460	1470	1480	1490	1500
DEQIFDWVEA	NLDEIQMSSP	TFLRALMTAV	CKAAIIADSS	TFRVDTAVIK	QRVPILLKYL
1510	1520	1530	1540	1550	1560
DSDTEKELQA	LYALQASIVK	LDQPANLLRM	FFDCLYDEEV	ISEDAFYKWE	SSKDPAEQNG
1570	1580
KGVALKSVTA	FFTWLREAEE	ESEDN