AiPD: Autoinhibited Protein Database

O43491

Gene name	EPB41L2
Protein name	Band 4.1-like protein 2
Names	Antigen AC133, Prominin-like protein 1, Erythrocyte membrane protein band 4.1-like 2, Generally expressed protein 4.1, 4.1G
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2037
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-91 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-91 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for O43491

Entry ID	Method	Resolution	Chain	Position	Source
AF-O43491-F1	Predicted				AlphaFoldDB

795 variants for O43491

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA365649201 rs1197891392	2	T>A		No	ClinGen gnomAD
CA147036873 rs371805309	2	T>I		No	ClinGen ESP TOPMed
rs1481119371 CA365649131	4	E>G		No	ClinGen gnomAD
rs773159129 CA3998660	6	G>A		No	ClinGen ExAC gnomAD
rs769845405 CA3998659	8	V>M		No	ClinGen ExAC gnomAD
CA3998657 rs777143184	9	S>C		No	ClinGen ExAC gnomAD
CA3998658 rs748189609	9	S>P		No	ClinGen ExAC gnomAD
rs769314223 CA3998656	10	E>A		No	ClinGen ExAC gnomAD
rs970257200 CA147036833	13	K>E		No	ClinGen TOPMed gnomAD
rs1330727531 CA365648993	13	K>T		No	ClinGen gnomAD
rs201881430 CA3998654	14	D>N		No	ClinGen Ensembl
CA3998651 rs2297852 VAR_020145	17	Q>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA147036818 rs147601730	21	D>G		No	ClinGen ESP TOPMed gnomAD
CA365648888 rs147601730	21	D>V		No	ClinGen ESP TOPMed gnomAD
rs749040532 CA3998650	22	A>G		No	ClinGen ExAC gnomAD
CA3998649 rs146955500	23	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3998646 rs368404556	27	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs1255777532 CA365648758	29	E>Q		No	ClinGen gnomAD
CA365648736 rs1374187752	30	V>A		No	ClinGen TOPMed gnomAD
rs1201954745 CA365648743	30	V>I		No	ClinGen gnomAD
CA147036794 rs141164451	32	E>V		No	ClinGen ESP
rs374236563 CA147036792	33	N>T		No	ClinGen ESP TOPMed
rs147766210 CA365648671	34	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3998645 rs147766210	34	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1562585411 CA365648635 COSM3429994	36	N>S	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA147036789 rs760097099	40	D>H		No	ClinGen TOPMed gnomAD
CA147036790 rs760097099	40	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3998643 rs766226490	40	D>V		No	ClinGen ExAC gnomAD
CA365648565 rs1339606684	41	P>A		No	ClinGen TOPMed gnomAD
rs139634261 CA365648540	42	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA3998641 rs750597090	43	E>G		No	ClinGen ExAC gnomAD
rs765400009 CA3998640	44	E>G		No	ClinGen ExAC gnomAD
rs1473717538	44	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3998638 rs150999532	46	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs769262800 CA3998637	46	G>D		No	ClinGen ExAC gnomAD
CA3998639 rs150999532	46	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	46	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3998636 rs761325427	47	S>C		No	ClinGen ExAC gnomAD
CA3998635 rs201265999	49	P>T		No	ClinGen ExAC TOPMed gnomAD
rs142641130 CA3998634	52	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3998633 rs142641130	52	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA3998632 rs777437234	52	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1211300443 CA365648457	53	A>G		No	ClinGen Ensembl
rs1182104592 CA365648452	54	E>G		No	ClinGen gnomAD
TCGA novel	55	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	58	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1408352323 CA365648424	58	S>G		No	ClinGen TOPMed
CA3998630 rs139295986	60	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs370441861 CA3998629	60	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3998628 rs202166140	61	R>C		No	ClinGen ExAC TOPMed gnomAD
rs146101782 CA3998626	61	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA3998627 rs146101782	61	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA365648398 rs1182864935	62	Q>H		No	ClinGen gnomAD
CA365648388 rs1205592152	64	R>G		No	ClinGen TOPMed gnomAD
rs1355522891 CA365648386	64	R>T		No	ClinGen gnomAD
rs1562584661 CA365648380	65	E>Q		No	ClinGen Ensembl
rs758159793 CA3998625	67	E>Q		No	ClinGen ExAC
CA365648355 rs1289374105	68	T>I		No	ClinGen gnomAD
CA3998622 rs72983784	69	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs72983784 CA3998621	69	S>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139590826 CA3998619	70	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	70	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA147036727 rs759178203	71	S>T		No	ClinGen Ensembl
CA365648333 rs1327628361	72	R>G		No	ClinGen gnomAD
rs776082447 CA3998618	72	R>K		No	ClinGen ExAC gnomAD
rs774621932 CA3998615	76	R>P		No	ClinGen ExAC TOPMed gnomAD
CA3998616 rs774621932	76	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3998617 rs553971623	76	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769468412 CA3998614	77	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1271925494 CA365648299	78	I>L		No	ClinGen TOPMed gnomAD
rs1271925494 CA365648298	78	I>V		No	ClinGen TOPMed gnomAD
CA3998613 rs144686133	79	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA365648280 rs1583908936	81	W>R		No	ClinGen Ensembl
rs1011815167 CA147036710	87	S>T		No	ClinGen Ensembl
rs1474479018 CA365648221	89	T>A		No	ClinGen gnomAD
rs149339129 CA3998611	93	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1436363048 CA365648179	95	D>G		No	ClinGen TOPMed
TCGA novel	97	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779926581 CA3998609	97	G>R		No	ClinGen ExAC
CA3998607 rs745651995	100	K>E		No	ClinGen ExAC
rs778628882 CA3998606	101	E>K		No	ClinGen ExAC gnomAD
rs757499268 CA3998605	105	A>G		No	ClinGen ExAC gnomAD
rs1300229260 CA365648090	106	V>I		No	ClinGen TOPMed
rs1273495970 CA365648078	107	V>I		No	ClinGen gnomAD
TCGA novel rs1341000172 CA365648018	110	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
rs1226174463 CA365647961	114	K>T		No	ClinGen TOPMed
CA365647933 rs201431851	115	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201431851 CA3998602	115	E>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA365647922 rs1331050549	116	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1407176640 CA365647872	117	P>H		No	ClinGen TOPMed gnomAD
CA365647870 rs1407176640	117	P>L		No	ClinGen TOPMed gnomAD
rs1407176640 CA365647875	117	P>R		No	ClinGen TOPMed gnomAD
rs1301768398 CA365647893	117	P>T		No	ClinGen TOPMed gnomAD
CA147036668 rs138944177	118	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs138944177 CA3998600	118	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA365647842 rs1408468235	119	P>A		No	ClinGen gnomAD
rs760013469 CA3998599	120	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA365647798 rs1168625576	121	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1168625576 CA365647802	121	E>K		No	ClinGen gnomAD
rs984232556 CA147036661	123	R>I		No	ClinGen TOPMed
TCGA novel	123	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377675747 CA3998598	124	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA365647653 rs1481492813	127	G>V		No	ClinGen TOPMed
rs766583357 CA3998597	132	M>I		No	ClinGen ExAC TOPMed gnomAD
COSM1073230 rs1439255920 CA365647300	138	E>D	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1202177891 CA365647323	138	E>Q		No	ClinGen gnomAD
CA147036641 rs777267153	141	V>I		No	ClinGen TOPMed gnomAD
rs777267153 CA147036640	141	V>L		No	ClinGen TOPMed gnomAD
rs1218136640 CA365647235	142	E>K		No	ClinGen gnomAD
rs1320750231 CA365647203	143	V>F		No	ClinGen gnomAD
rs1320750231 CA365647205	143	V>I		No	ClinGen gnomAD
rs776214440 CA3998595	145	E>G		No	ClinGen ExAC gnomAD
CA3998594 rs768324755	147	K>R		No	ClinGen ExAC gnomAD
CA3998593 rs746490544	148	P>L		No	ClinGen ExAC gnomAD
CA3998592 rs775029576	149	S>L		No	ClinGen ExAC TOPMed gnomAD
rs199736215 CA147036622	149	S>P		No	ClinGen 1000Genomes
CA365646961 rs1381303591	152	K>Q		No	ClinGen TOPMed
CA3998589 rs778917123	155	K>N		No	ClinGen ExAC TOPMed
rs538206789 CA3998588	156	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA365646847 rs1329708094	156	P>S		No	ClinGen TOPMed gnomAD
rs1329708094 CA365646859	156	P>T		No	ClinGen TOPMed gnomAD
rs374125051 CA147036593	157	S>L		No	ClinGen ESP TOPMed
rs756448638 CA3998585	159	S>N		No	ClinGen ExAC gnomAD
CA365646730 rs1233136191	163	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1471002986 CA365646741	163	M>V		No	ClinGen gnomAD
rs1583897356 CA365646610	165	P>R		No	ClinGen Ensembl
CA3998566 rs369218414	165	P>S		No	ClinGen ESP ExAC gnomAD
CA365646601 rs770130291	166	T>I		No	ClinGen ExAC TOPMed
rs770130291 CA3998564	166	T>S		No	ClinGen ExAC TOPMed
rs200099107 CA3998563	167	E>A		No	ClinGen 1000Genomes ExAC gnomAD
CA3998561 rs374855120	167	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA365646564 rs1453515420	170	S>R		No	ClinGen gnomAD
rs138467790 CA3998558	171	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3998556 rs146965182	173	R>K		No	ClinGen ESP ExAC gnomAD
TCGA novel	174	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3998554 rs752235863	175	E>G		No	ClinGen ExAC TOPMed gnomAD
rs936186810 CA147036118	176	K>R		No	ClinGen TOPMed
rs977715483 CA147036107	178	K>E		No	ClinGen TOPMed gnomAD
CA365646513 rs977715483	178	K>Q		No	ClinGen TOPMed gnomAD
CA147036103 rs200886252	178	K>R		No	ClinGen 1000Genomes
CA147036102 rs201331729	180	T>A		No	ClinGen 1000Genomes
rs1259106293 CA365646475	183	D>G		No	ClinGen gnomAD
TCGA novel	186	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365646453 rs1187761934	186	E>K		No	ClinGen gnomAD
CA365646437 rs1243142263	188	G>A		No	ClinGen gnomAD
rs1487170716 CA365646440	188	G>R		No	ClinGen TOPMed gnomAD
rs758929442 CA3998552	190	A>G		No	ClinGen ExAC gnomAD
rs932689582 CA147036098	190	A>T		No	ClinGen TOPMed
rs369077212 CA147036091	192	R>K		No	ClinGen ESP TOPMed
rs1489951589 CA365646410	193	E>Q		No	ClinGen gnomAD
CA365646400 rs1294250867	194	T>N		No	ClinGen TOPMed gnomAD
TCGA novel rs1399982060 CA365646391	195	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
CA3998549 rs763044313	198	Q>H		No	ClinGen ExAC gnomAD
CA147036076 rs990389981	199	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3998547 rs769651939	201	E>A		No	ClinGen ExAC TOPMed gnomAD
CA3998548 rs773140018	201	E>K		No	ClinGen ExAC gnomAD
CA3998546 rs141252731	204	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	205	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781226765 CA3998545	207	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	209	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	209	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1031898760 CA147036062	210	K>E		No	ClinGen TOPMed
rs544291074 CA3998544	214	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs975381670 CA147036060	215	T>N		No	ClinGen Ensembl
rs1370974870 CA365646252	216	K>N		No	ClinGen gnomAD
CA147036059 rs982018628	216	K>Q		No	ClinGen TOPMed
CA365646248 rs1171922456	217	T>P		No	ClinGen gnomAD
rs780735012 CA147036055	217	T>S		No	ClinGen Ensembl
CA3998542 rs780237457	219	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs750861794 CA3998541	220	C>R		No	ClinGen ExAC TOPMed gnomAD
CA3998540 rs750861794	220	C>S		No	ClinGen ExAC TOPMed gnomAD
CA3998538 rs143032918	223	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA365646206 rs1335118307	224	L>F		No	ClinGen TOPMed
rs1223677334 CA365646190	226	D>G		No	ClinGen TOPMed gnomAD
CA365646179 rs1206719811	228	T>P		No	ClinGen gnomAD
TCGA novel	229	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3998535 rs375264771 COSM1073227	229	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA3998534 rs751024313	231	S>R		No	ClinGen ExAC gnomAD
rs1214468986 CA365646095	234	L>V		No	ClinGen gnomAD
rs779614385 CA3998511	237	H>L		No	ClinGen ExAC TOPMed gnomAD
CA3998512 rs779614385	237	H>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	239	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365645381 rs1562504304	239	K>Q		No	ClinGen Ensembl
CA3998510 rs761868147	239	K>R		No	ClinGen ExAC TOPMed gnomAD
rs776286503 CA3998509	240	G>R		No	ClinGen ExAC TOPMed gnomAD
rs950445481 CA147016883	242	V>E		No	ClinGen TOPMed
rs1181833633 CA365645349	244	F>I		No	ClinGen gnomAD
CA365645329 rs1462680470	246	K>R		No	ClinGen gnomAD
rs775641552 CA3998506	247	V>M		No	ClinGen ExAC gnomAD
rs765960310 CA3998503	249	E>D		No	ClinGen ExAC gnomAD
CA365645299 rs1372823021	250	H>Q		No	ClinGen TOPMed
CA365645290 rs1408315923	252	N>D		No	ClinGen TOPMed
CA3998502 rs774463569	252	N>S		No	ClinGen ExAC gnomAD
rs771332966 CA3998501	253	L>F		No	ClinGen ExAC TOPMed gnomAD
CA365645258 rs1454144389	256	K>N		No	ClinGen gnomAD
CA3998499 rs778150249	260	G>A		No	ClinGen ExAC gnomAD
TCGA novel	260	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756447022 CA3998498	261	L>F		No	ClinGen ExAC gnomAD
CA147016817 rs41285330	262	L>V		No	ClinGen ExAC TOPMed gnomAD
CA3998496 rs779818989	262	L>W		No	ClinGen ExAC gnomAD
CA147016806 rs868326243	264	Q>*		No	ClinGen Ensembl
CA365645189 rs1384882052	266	S>I		No	ClinGen TOPMed gnomAD
rs1309916049 CA365645184	267	P>S		No	ClinGen TOPMed
CA147016797 rs368898174	269	Q>E		No	ClinGen TOPMed gnomAD
rs368898174 CA365645172	269	Q>K		No	ClinGen TOPMed gnomAD
rs1424828077 CA365645141	271	N>T		No	ClinGen TOPMed
TCGA novel	272	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777736957 CA3998471	274	D>E		No	ClinGen ExAC TOPMed gnomAD
rs529373396 CA147002197	275	P>T		No	ClinGen Ensembl
CA365645103 rs1451880854	276	A>V		No	ClinGen gnomAD
rs577645313 CA3998470	277	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	278	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752476299 CA3998469	278	E>G		No	ClinGen ExAC TOPMed gnomAD
CA365645083 rs1279993832	279	I>R		No	ClinGen TOPMed gnomAD
TCGA novel	280	K>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365645077 rs1340800473	280	K>R		No	ClinGen gnomAD
rs748809682 CA3998454	286	L>F		No	ClinGen ExAC gnomAD
CA3998452 rs756043207	296	F>L		No	ClinGen ExAC gnomAD
CA3998451 rs752566317	297	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA3998450 rs781122895	299	P>L		No	ClinGen ExAC TOPMed gnomAD
CA146998428 rs781423429	302	S>F		No	ClinGen gnomAD
CA365644908 rs1415248694	303	Q>L		No	ClinGen gnomAD
rs372509765 CA3998448	304	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3998446 rs763140706	304	L>S		No	ClinGen ExAC gnomAD
rs1238352045 CA365644897	305	T>A		No	ClinGen gnomAD
CA3998444 rs765339754	307	D>G		No	ClinGen ExAC TOPMed gnomAD
rs923502923 CA146998374	308	I>S		No	ClinGen TOPMed gnomAD
rs1164879272 CA365644840	311	Y>*		No	ClinGen gnomAD
CA3998417 rs772805274	311	Y>F		No	ClinGen ExAC gnomAD
rs1481811678 CA365644833	312	F>L		No	ClinGen TOPMed gnomAD
CA3998416 rs769471926	314	C>F		No	ClinGen ExAC gnomAD
rs1423172993 CA365644802	317	L>V		No	ClinGen TOPMed
rs776172680 CA3998414	318	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3998415 rs368404368	318	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1057504192 CA146996301	319	Q>E		No	ClinGen Ensembl
rs1222201569 CA365644778	321	I>V		No	ClinGen gnomAD
CA365644772 rs1489925865	322	A>S		No	ClinGen TOPMed gnomAD
CA146996295 rs1002742791	322	A>V		No	ClinGen TOPMed
rs1267389575 CA365644765	323	S>A		No	ClinGen gnomAD
rs768574553 CA3998413	323	S>F		No	ClinGen ExAC gnomAD
CA365644758 rs1306945024	324	G>V		No	ClinGen gnomAD
rs746852489 CA3998412	325	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3998411 rs375486728	325	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3998410 rs758077846	326	L>P		No	ClinGen ExAC gnomAD
CA3998409 rs745706841	327	P>S		No	ClinGen ExAC TOPMed gnomAD
rs745706841 CA146996283	327	P>T		No	ClinGen ExAC TOPMed gnomAD
CA365644743 rs1197786060	328	C>R		No	ClinGen TOPMed
CA146996260 rs933894821	330	F>S		No	ClinGen Ensembl
CA3998406 rs753954058	333	H>Q		No	ClinGen ExAC gnomAD
CA3998407 rs757603022	333	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs753090403 CA3998404	334	A>G		No	ClinGen ExAC gnomAD
CA3998405 rs778067595	334	A>S		No	ClinGen ExAC gnomAD
rs753090403 CA3998403	334	A>V		No	ClinGen ExAC gnomAD
TCGA novel	335	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3998402 rs768094631	335	L>H		No	ClinGen ExAC gnomAD
CA3998400 rs751964577	336	L>R		No	ClinGen ExAC gnomAD
CA365644689 rs1562438245	337	G>A		No	ClinGen Ensembl
CA3998398 rs117767635	340	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776267857 CA3998397	340	T>N		No	ClinGen ExAC
rs145134786 CA146996186	343	A>T		No	ClinGen ESP
rs1192047631 CA365644644	344	E>D		No	ClinGen gnomAD
CA3998395 rs760253635	345	L>I		No	ClinGen ExAC TOPMed gnomAD
rs544017577 CA3998394	348	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs41285324 CA3998393	350	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA146996133 rs867198196	350	P>S		No	ClinGen Ensembl
TCGA novel	352	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs951133023 CA146996122	352	E>A		No	ClinGen Ensembl
CA365644596 rs1467591047	352	E>K		No	ClinGen Ensembl
rs1467591047 CA365644597	352	E>Q		No	ClinGen Ensembl
rs745626925 CA3998392	353	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs778911472 CA3998391 COSM3829032	354	G>D	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA365644563 rs146731749	357	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA3998388 COSM1440462 rs146731749	357	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs756102070 CA3998387	357	D>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	358	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	359	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3998385 rs143338984	362	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	362	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA146996086 rs73617121	362	Q>R		No	ClinGen 1000Genomes TOPMed gnomAD
CA365644509 rs1176271871	364	A>D		No	ClinGen gnomAD
rs1379776921 CA365644503	365	P>L		No	ClinGen gnomAD
CA3998384 rs764048270	365	P>S		No	ClinGen ExAC gnomAD
CA3998383 rs751913360	366	T>I		No	ClinGen ExAC gnomAD
rs1298169401 CA365644484	368	T>I		No	ClinGen TOPMed
CA365644482 rs1418782663	369	K>E		No	ClinGen TOPMed gnomAD
rs1235900494 CA365644471	370	E>V		No	ClinGen Ensembl
rs544999063 CA3998382	374	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA365644441 rs1268679006	374	K>R		No	ClinGen TOPMed
rs753437608 CA3998380	375	V>M		No	ClinGen ExAC gnomAD
TCGA novel	377	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3998378 rs139628781	377	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA365644413 rs1201735288	379	H>R		No	ClinGen TOPMed gnomAD
CA146996044 rs1024977333	380	K>Q		No	ClinGen Ensembl
CA365644394 rs868687611	382	H>D		No	ClinGen gnomAD
CA146996026 rs868687611	382	H>Y		No	ClinGen gnomAD
CA3998360 rs750825122	384	G>D		No	ClinGen ExAC gnomAD
CA365644361 rs1353332410	385	L>S		No	ClinGen TOPMed
CA365644353 rs1287860575	386	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs763630875 CA365644357	386	S>P		No	ClinGen ExAC TOPMed gnomAD
rs763630875 CA3998359	386	S>T		No	ClinGen ExAC TOPMed gnomAD
CA3998356 rs756090225	387	P>T		No	ClinGen ExAC TOPMed gnomAD
CA3998353 rs766452629	392	S>F		No	ClinGen ExAC TOPMed gnomAD
CA3998352 rs142296383	393	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	397	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs559430491 CA3998350	399	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA3998349 rs748331354	399	K>N		No	ClinGen ExAC gnomAD
CA3998348 rs367590827	400	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1473793688 CA365644249	402	S>F		No	ClinGen gnomAD
rs1041568996 CA146995228	402	S>P		No	ClinGen Ensembl
CA3998346 CA3998347 rs375573893	403	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3998345 rs755230935	404	Y>C		No	ClinGen ExAC gnomAD
rs755230935 CA365644237	404	Y>F		No	ClinGen ExAC gnomAD
rs1214595779 CA365644230	405	G>D		No	ClinGen gnomAD
rs1194101695 CA365644233	405	G>S		No	ClinGen gnomAD
TCGA novel	405	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1583228896 CA365644211	408	L>P		No	ClinGen Ensembl
CA365644205 rs1211145271	409	H>R		No	ClinGen gnomAD
rs757568669 CA3998341	410	H>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	413	D>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3998314 rs761635521	415	E>A		No	ClinGen ExAC TOPMed gnomAD
rs762822784 CA365643765	417	V>L		No	ClinGen gnomAD
CA146992579 rs762822784	417	V>M		No	ClinGen gnomAD
rs1447403566 CA365643760	418	D>N		No	ClinGen TOPMed
CA3998313 rs528595903	420	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1440461 CA3998311 rs760954108	423	V>M	large_intestine Variant assessed as Somatic; 4.622e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA146992545 rs866402715	424	C>R		No	ClinGen Ensembl
CA3998308 rs759557758	426	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1322108684 CA365643700	427	G>E		No	ClinGen TOPMed
COSM1697982 rs1453917219 CA365643702	427	G>R	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs774883134 CA3998307	429	L>F		No	ClinGen ExAC gnomAD
rs201956982 CA146992534	432	K>N		No	ClinGen 1000Genomes
rs771384204 CA3998306	433	D>H		No	ClinGen ExAC gnomAD
rs144074060 CA3998305	435	L>P		No	ClinGen ESP ExAC gnomAD
CA146992526 COSM1073224 rs977552607	436	R>Q	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1332088018 CA365643641	437	I>V		No	ClinGen gnomAD
rs542627037 CA3998304	438	N>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1335941999 CA365643624	439	R>H		No	ClinGen TOPMed gnomAD
CA365643625 rs1335941999	439	R>L		No	ClinGen TOPMed gnomAD
rs1406819596 CA365643611	441	A>V		No	ClinGen TOPMed gnomAD
CA365643596 rs1156506856	443	P>L		No	ClinGen TOPMed gnomAD
rs746597679 CA3998302	444	K>N		No	ClinGen ExAC gnomAD
rs779871717 CA3998301	445	I>T		No	ClinGen ExAC
CA3998298 rs373311698 CA146992505	447	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs757882118 CA3998299	447	K>Q		No	ClinGen ExAC gnomAD
rs757199121 CA3998296	448	I>M		No	ClinGen ExAC gnomAD
rs368997638 CA3998297	448	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs765521376 CA3998295 COSM3829031	452	R>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA146992495 rs375639120	452	R>H		No	ClinGen ESP TOPMed gnomAD
CA365643538 rs375639120	452	R>L		No	ClinGen ESP TOPMed gnomAD
CA146992488 rs922231868	456	Y>H		No	ClinGen Ensembl
CA3998293 rs762331216	457	I>L		No	ClinGen ExAC gnomAD
CA146992483 rs762331216	457	I>V		No	ClinGen ExAC gnomAD
CA3998292 rs138523739	459	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA3998290 rs759632542	461	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3998291 rs767760001	461	P>S		No	ClinGen ExAC
CA3998265 rs777079497	465	E>D		No	ClinGen ExAC gnomAD
rs1000200394 CA146992125	468	E>*		No	ClinGen TOPMed
rs1000200394 CA146992137	468	E>Q		No	ClinGen TOPMed
rs1248586709 CA365643404	470	T>I		No	ClinGen gnomAD
rs771762583 CA3998264	475	L>R		No	ClinGen ExAC TOPMed gnomAD
CA3998263 rs745575492	476	P>L		No	ClinGen ExAC TOPMed gnomAD
CA365643364 rs745575492	476	P>R		No	ClinGen ExAC TOPMed gnomAD
CA365643347 rs774039881	477	N>K		No	ClinGen ExAC TOPMed gnomAD
rs748765113 CA3998260	479	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs770396821 CA3998261 COSM1196612	479	R>W	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs777717612 CA3998259	480	A>S		No	ClinGen ExAC gnomAD
rs755994513 CA3998258	480	A>V		No	ClinGen ExAC gnomAD
rs754794844 CA3998255	481	A>G		No	ClinGen ExAC TOPMed gnomAD
CA3998257 rs747947738	481	A>T		No	ClinGen ExAC TOPMed gnomAD
CA3998256 rs754794844	481	A>V		No	ClinGen ExAC TOPMed gnomAD
CA365643164 rs1175777114	490	E>D		No	ClinGen gnomAD
CA3998250 rs765855989	490	E>G		No	ClinGen ExAC gnomAD
rs1473645078 CA365643125	493	T>A		No	ClinGen TOPMed
CA3998249 rs762345576	494	F>Y		No	ClinGen ExAC gnomAD
rs147514738 CA3998248	496	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA365644163 rs1358797132	497	L>F		No	ClinGen gnomAD
CA365644162 rs1160539088	497	L>H		No	ClinGen gnomAD
CA3998194 rs199995587	498	V>F		No	ClinGen ExAC TOPMed gnomAD
CA3998192 rs778164462	499	S>F		No	ClinGen ExAC gnomAD
rs778164462 CA3998193	499	S>Y		No	ClinGen ExAC gnomAD
CA365644148 rs1307277123	500	P>S		No	ClinGen TOPMed
CA365644139 rs1583122916	501	E>D		No	ClinGen Ensembl
rs753006415 CA3998190	501	E>K		No	ClinGen ExAC
rs767932630 CA3998189	503	P>L		No	ClinGen ExAC TOPMed gnomAD
CA365644123 rs1210729972	504	P>A		No	ClinGen TOPMed
CA3998188 rs759877014	506	A>G		No	ClinGen ExAC TOPMed gnomAD
CA365644104 rs1449680928	507	K>E		No	ClinGen TOPMed
CA3998186 rs764834057	508	F>L		No	ClinGen ExAC gnomAD
TCGA novel	508	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1287665200 CA365644082	510	T>N		No	ClinGen gnomAD
rs761255518 CA3998185	512	G>R		No	ClinGen ExAC gnomAD
rs1238722029 CA365644058	514	K>T		No	ClinGen TOPMed
rs1263136282 CA365644043	516	R>C		No	ClinGen gnomAD
CA365644042 rs1243342167	516	R>H		No	ClinGen gnomAD
rs1324016423 CA365644036	517	Y>S		No	ClinGen gnomAD
rs763945844 CA3998183	518	S>G		No	ClinGen ExAC TOPMed gnomAD
rs143170040 CA3998182	520	R>C		No	ClinGen ESP ExAC gnomAD
rs1382957093 CA365644016	520	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA365644012 rs1390193577	521	T>A		No	ClinGen gnomAD
CA365644001 rs1583121841	522	Q>H		No	ClinGen Ensembl
CA365644007 rs1472904831	522	Q>K		No	ClinGen TOPMed
rs1217481802 CA365644003	522	Q>R		No	ClinGen Ensembl
CA365643985 rs1583121768	525	T>P		No	ClinGen Ensembl
CA3998180 rs202041604	526	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3998179 rs200008469 COSM1251243	526	R>H	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs200008469 CA365643976	526	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774745133 CA3998178	527	Q>K		No	ClinGen ExAC gnomAD
CA147038403 rs773976530	530	T>I		No	ClinGen TOPMed gnomAD
rs773976530 CA365643950	530	T>N		No	ClinGen TOPMed gnomAD
CA365643947 rs1562403392	531	L>F		No	ClinGen Ensembl
rs749340210 CA3998176	532	I>V		No	ClinGen ExAC gnomAD
rs1211050474 CA365643931	533	D>E		No	ClinGen gnomAD
CA3998175 rs374585249	533	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA365643912 rs1326925619	536	A>V		No	ClinGen TOPMed
rs756141110 CA3998174	537	P>L		No	ClinGen ExAC gnomAD
rs781646450 CA3998172	538	H>Q		No	ClinGen ExAC gnomAD
CA365643903 rs1218537600	538	H>R		No	ClinGen gnomAD
CA3998171 rs755372786	539	F>V		No	ClinGen ExAC TOPMed gnomAD
rs751876828 COSM1544970 CA3998170	541	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
COSM204026 CA3998169 rs764887205	541	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3998168 rs756871086	542	T>A		No	ClinGen ExAC gnomAD
rs1353917245 CA365643871	543	S>F		No	ClinGen TOPMed
CA3998167 rs369608862	543	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1232474176 CA365643869	544	S>G		No	ClinGen TOPMed
CA3998165 rs760082984	546	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs149647551 CA3998166	546	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA3998164 rs775608288	547	V>I		No	ClinGen ExAC gnomAD
CA147038334 rs987358836	548	S>F		No	ClinGen Ensembl
rs767521613 CA3998163	549	R>G		No	ClinGen ExAC gnomAD
rs1477499680 CA365643835	550	S>R		No	ClinGen TOPMed gnomAD
CA3998144 rs76682195 RCV000956412	555	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA365643349 rs540854380	555	P>S		No	ClinGen 1000Genomes TOPMed
CA147035536 rs540854380	555	P>T		No	ClinGen 1000Genomes TOPMed
CA3998142 rs751536554	556	I>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	558	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766250892 CA3998141	558	V>G		No	ClinGen ExAC gnomAD
rs932797685 CA147035518	559	M>T		No	ClinGen gnomAD
rs150113551 CA3998140	559	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs921447097 CA147035501	562	S>N		No	ClinGen Ensembl
CA3998138 rs570645297	564	M>T		No	ClinGen ExAC gnomAD
CA3998139 rs773519589	564	M>V		No	ClinGen ExAC gnomAD
rs905751075 CA365643226	565	K>N		No	ClinGen TOPMed
CA147035484 rs267600809	566	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA365643202 rs1384286798	567	F>C		No	ClinGen TOPMed
COSM36576 CA3998137 rs144342263	568	P>S	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA3998134 rs377029691	570	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3998133 rs377029691	570	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs772528827 CA3998132	570	A>V		No	ClinGen ExAC gnomAD
CA365643150 rs941444509	572	G>E		No	ClinGen TOPMed gnomAD
rs941444509 CA147035448	572	G>V		No	ClinGen TOPMed gnomAD
CA3998130 rs140741017	576	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1297639498 CA365643102	576	A>V		No	ClinGen TOPMed
rs755663986 CA3998129	577	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs752258009 CA3998128	580	G>E		No	ClinGen ExAC gnomAD
rs1305269816 CA365643055	581	L>F		No	ClinGen TOPMed
CA3998126 rs376694652	584	I>T		No	ClinGen ESP ExAC gnomAD
CA147035390 rs983182524	585	A>V		No	ClinGen TOPMed
rs774609864 CA365643025	586	V>L		No	ClinGen Ensembl
CA147035386 rs774609864	586	V>M		No	ClinGen Ensembl
CA3998124 rs766192220	587	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1297521766 CA365643005	589	D>G		No	ClinGen TOPMed
rs750132466 CA3998122	589	D>N		No	ClinGen ExAC gnomAD
rs766718627 CA365642989	591	D>E		No	ClinGen ExAC TOPMed gnomAD
rs765506413 CA3998121	591	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA147035326 rs776824214	592	G>C		No	ClinGen ExAC gnomAD
rs776824214 CA3998119	592	G>S		No	ClinGen ExAC gnomAD
CA3998118 rs768774856	592	G>V		No	ClinGen ExAC gnomAD
rs200447334 CA3998117	593	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA147035304 rs763374055	595	E>A		No	ClinGen TOPMed
rs776097407 CA365642966	595	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1294906665 CA365642964	596	V>M		No	ClinGen gnomAD
CA3998115 rs772411658	600	T>A		No	ClinGen ExAC gnomAD
CA3998114 COSM204023 rs201062554	602	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs1242108944 CA365642915	603	P>L		No	ClinGen TOPMed
rs367566294 CA3998113	604	H>L		No	ClinGen ESP ExAC gnomAD
CA147035261 rs977302461	604	H>Q		No	ClinGen TOPMed gnomAD
rs367566294 CA365642910	604	H>R		No	ClinGen ESP ExAC gnomAD
CA365642889 rs1339076958	607	L>P		No	ClinGen gnomAD
rs1405308495 CA365642881	608	I>M		No	ClinGen gnomAD
CA365642884 rs1163448200	608	I>T		No	ClinGen gnomAD
TCGA novel	611	K>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1583060947 CA365642864	611	K>E		No	ClinGen Ensembl
rs1281584392 CA365642757	613	N>H		No	ClinGen TOPMed gnomAD
CA365642752 rs1480867022	613	N>I		No	ClinGen TOPMed gnomAD
rs1480867022 CA365642753	613	N>S		No	ClinGen TOPMed gnomAD
rs745845274 CA3998081	614	S>Y		No	ClinGen ExAC gnomAD
rs1349585797 CA365642739	615	L>F		No	ClinGen gnomAD
CA3998080 rs778791819	615	L>W		No	ClinGen ExAC TOPMed gnomAD
CA3998079 rs200832085	616	R>T		No	ClinGen ExAC TOPMed gnomAD
CA365642728 rs1376836341	617	V>A		No	ClinGen TOPMed gnomAD
CA365642730 rs1238737341	617	V>I		No	ClinGen gnomAD
rs1374590181 CA365642715	619	G>E		No	ClinGen gnomAD
TCGA novel	619	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3998077 rs550696170	621	N>D		No	ClinGen 1000Genomes ExAC gnomAD
CA3998076 rs764314942	622	I>N		No	ClinGen ExAC gnomAD
CA147032140 rs764314942	622	I>T		No	ClinGen ExAC gnomAD
CA365642696 rs1240244988	622	I>V		No	ClinGen gnomAD
CA365642683 rs1174372686	624	V>I		No	ClinGen gnomAD
rs1362117567 CA365642660	627	S>N		No	ClinGen gnomAD
rs1335584230 CA365642632	630	M>I		No	ClinGen gnomAD
rs1161256928 CA365642628	631	L>S		No	ClinGen gnomAD
TCGA novel	632	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752959908 CA3998074	632	E>Q		No	ClinGen ExAC gnomAD
CA365642595 rs1390075132	634	L>R		No	ClinGen gnomAD
rs1462944699 CA365642589	635	D>G		No	ClinGen TOPMed gnomAD
CA3998049 rs765749982	635	D>N		No	ClinGen ExAC gnomAD
CA365642584 rs1395018795	636	K>E		No	ClinGen gnomAD
rs775037017 CA3998047	639	E>D		No	ClinGen ExAC gnomAD
rs1374397500 CA365642552	640	D>G		No	ClinGen gnomAD
CA365642547 rs1193309455	641	I>V		No	ClinGen gnomAD
rs771707457 CA3998046	644	H>Y		No	ClinGen ExAC gnomAD
rs878884438 CA147030941	645	Q>*		No	ClinGen Ensembl
rs1250563324 CA365642508	647	S>G		No	ClinGen gnomAD
CA3998045 rs145209176	648	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1470213008 CA365642486	650	E>K		No	ClinGen gnomAD
rs368626419 CA365642477	651	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA3998044 rs368626419	651	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs374441396 CA3998042	653	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
COSM1073221 rs370238340 CA3998041	653	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA3998037 rs777664555	657	E>D		No	ClinGen ExAC gnomAD
CA365642432 rs1443028675	657	E>G		No	ClinGen gnomAD
rs372691904 CA147030857	659	T>A		No	ClinGen TOPMed gnomAD
rs1450348370 CA365642419	659	T>I		No	ClinGen gnomAD
CA365642423 rs372691904	659	T>P		No	ClinGen TOPMed gnomAD
rs1312890583 CA365642416	660	P>S		No	ClinGen TOPMed
rs747931030 CA3998035	662	P>L		No	ClinGen ExAC gnomAD
rs140419333 CA3998033	663	R>C	Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs201590756 COSM1205392 CA3998032	663	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA365642397 rs201590756	663	R>L		No	ClinGen ExAC TOPMed gnomAD
CA365642350 rs1249761788	669	K>N		No	ClinGen TOPMed
CA3998030 rs758533330	670	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3998029 rs751011583	670	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs765738233 CA3998028	671	R>C		No	ClinGen ExAC gnomAD
CA3998027 rs762107891	671	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1275543722 CA365642341	672	I>F		No	ClinGen gnomAD
rs1275543722 CA365642340	672	I>V		No	ClinGen gnomAD
rs1196659501 CA365642329	673	T>I		No	ClinGen gnomAD
rs200548561 CA3998025	678	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1236533820 CA365642294	679	T>I		No	ClinGen gnomAD
CA147030816 rs773978059	680	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA3998023 rs773978059	680	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs770475971 CA3998022	681	G>R		No	ClinGen ExAC gnomAD
rs1313571846 CA365641744	684	H>P		No	ClinGen gnomAD
rs1313571846 CA365641743	684	H>R		No	ClinGen gnomAD
CA3997971 rs778365462	684	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1457703130 CA365641706	689	I>M		No	ClinGen gnomAD
rs1290606602 CA365641711	689	I>V		No	ClinGen gnomAD
rs1296034223 CA365641705	690	V>M		No	ClinGen TOPMed
CA147023996 rs949391030	691	E>D		No	ClinGen TOPMed gnomAD
CA365641683 rs1162442709	693	K>E		No	ClinGen gnomAD
rs748512079 CA3997967	694	K>N		No	ClinGen ExAC TOPMed gnomAD
CA365641674 rs1280839124	694	K>Q		No	ClinGen TOPMed
CA147023958 rs753274531	695	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs781600797 CA3997966	695	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1186503373 CA365641657	696	A>E		No	ClinGen TOPMed
rs1451073129 CA365641658	696	A>T		No	ClinGen TOPMed
rs750134094 CA3997964	697	E>D		No	ClinGen ExAC TOPMed
rs756818186 CA3997962	698	V>F		No	ClinGen ExAC TOPMed gnomAD
CA3997963 rs756818186	698	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1173773297 CA365641632	699	G>E		No	ClinGen TOPMed
rs117884190 CA3997961	701	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1191115877 CA365641608	702	E>G		No	ClinGen gnomAD
rs760761253 CA3997959	702	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1272954212 CA365641601	703	R>K		No	ClinGen gnomAD
CA3997957 rs767470524	709	M>V		No	ClinGen ExAC gnomAD
rs1437723191 CA365641541	711	G>R		No	ClinGen TOPMed
CA365641524 rs1463587982	713	E>G		No	ClinGen TOPMed gnomAD
CA3997956 rs145784221	714	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA3997955 rs774662472	715	S>P		No	ClinGen ExAC TOPMed gnomAD
rs771010106 CA3997954	717	G>A		No	ClinGen ExAC gnomAD
CA365641496 rs1419466222	718	S>C		No	ClinGen TOPMed gnomAD
rs149795029 CA3997953	718	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1435726752 CA365641486	719	G>A		No	ClinGen gnomAD
rs773204915 CA3997952	720	P>S		No	ClinGen ExAC gnomAD
rs139708296 CA3997951	721	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA365641472 rs1167031324	722	E>A		No	ClinGen gnomAD
CA365641467 rs1268993945	723	I>V		No	ClinGen TOPMed
rs554992186 CA3997949	724	R>C		No	ClinGen ExAC TOPMed gnomAD
rs150621192 CA3997947	724	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA3997948 rs150621192	724	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3997945 rs534395222	725	K>E		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	725	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1252867186 CA365641450	726	V>M		No	ClinGen gnomAD
TCGA novel	727	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753526042 CA3997944	728	P>L		No	ClinGen ExAC gnomAD
CA3997943 rs777485793	731	Q>*		No	ClinGen ExAC gnomAD
rs755666135 CA3997942	731	Q>P		No	ClinGen ExAC gnomAD
CA3997941 rs752719983	732	K>R		No	ClinGen ExAC gnomAD
CA365641401 rs1452070919	733	D>V		No	ClinGen TOPMed
TCGA novel	734	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs997143821 CA147023739	735	T>I		No	ClinGen gnomAD
rs1582891029 CA365641392	735	T>P		No	ClinGen Ensembl
rs755692646 CA3997938	736	S>F		No	ClinGen ExAC TOPMed gnomAD
CA3997936 rs763148714	741	S>N		No	ClinGen ExAC gnomAD
rs964382233 CA147023700	742	S>N		No	ClinGen Ensembl
rs376210129 CA147023686	743	S>C		No	ClinGen 1000Genomes gnomAD
CA147023681 rs375869610	743	S>I		No	ClinGen 1000Genomes gnomAD
rs145332499 CA3997934	744	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1562345194 CA365641309	747	E>D		No	ClinGen Ensembl
CA3997929 rs201873243	747	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA3997928 rs201873243	747	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs747408296 CA3997927	748	S>G		No	ClinGen ExAC
rs1582890292 CA365641302	748	S>R		No	ClinGen Ensembl
CA365641282 rs1172396973	751	E>G		No	ClinGen gnomAD
CA3997926 rs775785384	751	E>Q		No	ClinGen ExAC gnomAD
CA365641274 rs1378576319	752	D>A		No	ClinGen gnomAD
rs140202060 CA365641272	752	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1479284592 CA365641278	752	D>N		No	ClinGen gnomAD
CA365641269 CA365641270 rs748999213	753	V>L		No	ClinGen ExAC TOPMed gnomAD
COSM1073220 CA3997924 rs748999213	753	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA365641265 rs1562344984	754	G>R		No	ClinGen Ensembl
CA3997922 rs200396464	757	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3997921 rs766790733	757	R>H		No	ClinGen ExAC TOPMed gnomAD
CA365641240 rs766790733	757	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1562344901 CA365641236	758	P>H		No	ClinGen Ensembl
TCGA novel	758	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3997920 rs781291028	759	H>Y		No	ClinGen ExAC gnomAD
rs1220886140 CA365641225	760	H>D		No	ClinGen gnomAD
rs754804492 CA3997919	760	H>R		No	ClinGen ExAC gnomAD
CA365641218 rs1278771712	761	R>*		No	ClinGen gnomAD
rs539745210 CA365641217	761	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3997918 rs539745210	761	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766143130 CA3997917	762	V>M		No	ClinGen ExAC TOPMed gnomAD
rs750677894 CA3997915	763	T>I		No	ClinGen ExAC TOPMed gnomAD
rs565716598 CA3997913	764	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA365641195 rs776630064	765	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3997912 rs776630064	765	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1253367884 CA365641189	766	T>I		No	ClinGen TOPMed
CA3997911 rs764230245	769	E>K		No	ClinGen ExAC gnomAD
CA365641156 rs1180605844	771	Q>K		No	ClinGen TOPMed
CA3997910 rs375798862	773	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA365641135 rs1458721147	774	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1582888863 CA365641106	777	V>G		No	ClinGen Ensembl
rs1582888827 CA365641083	780	E>D		No	ClinGen Ensembl
rs1308674024 CA365641077	781	P>R		No	ClinGen TOPMed
CA365641080 rs1373834935	781	P>S		No	ClinGen TOPMed gnomAD
CA3997908 rs776044538	782	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3997906 rs147524336	782	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs147524336 CA3997907	782	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs769512493 CA3997904	783	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3997903 rs547603639	783	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA3997905 rs769512493	783	P>S		No	ClinGen ExAC TOPMed gnomAD
CA3997900 rs562256924	784	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780007505 CA3997899	786	K>N		No	ClinGen ExAC gnomAD
rs1205818296 CA365641058	786	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA365641025 rs1163345890	790	R>S		No	ClinGen TOPMed gnomAD
CA365641024 rs1421231670	791	E>K		No	ClinGen gnomAD
rs143261544 CA3997898	795	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
COSM204019 CA3997895 rs200766051	796	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs375269285 CA147023378	800	V>I		No	ClinGen ESP TOPMed
CA365640949 rs1353133650	802	Q>R		No	ClinGen gnomAD
rs1448181610 CA365640936	804	G>D		No	ClinGen gnomAD
rs371934402 CA3997893	807	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs754046934 CA3997894	807	V>L		No	ClinGen ExAC gnomAD
CA147023346 rs975821914	810	V>A		No	ClinGen gnomAD
CA365640883 rs1160277407	813	V>M		No	ClinGen TOPMed gnomAD
CA3997892 rs531695190	815	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1415892992 CA365640854	817	N>D		No	ClinGen gnomAD
rs1415892992 CA365640855	817	N>H		No	ClinGen gnomAD
rs1183796619 CA365640851	817	N>S		No	ClinGen gnomAD
rs1017267480 CA147023342	818	V>I		No	ClinGen TOPMed gnomAD
rs139383544 CA3997891	819	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1050157129 CA147023326	823	I>L		No	ClinGen TOPMed
rs759990615 CA3997889	824	P>T		No	ClinGen ExAC gnomAD
CA3997886 rs761611852	825	G>R		No	ClinGen ExAC TOPMed gnomAD
rs143967133 CA3997885	826	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA365640798 rs1317291750	826	E>Q		No	ClinGen gnomAD
CA365640787 rs1228528742	827	K>T		No	ClinGen gnomAD
CA3997880 rs745805908	830	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA3997882 rs779872725	830	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs757024224 CA3997878	831	E>A		No	ClinGen ExAC TOPMed gnomAD
rs778738417 CA3997879	831	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3997875 rs150873575	833	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA3997876 rs150873575	833	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3997874 rs752763679	834	L>F		No	ClinGen ExAC
rs1013603812 CA147023200	836	Q>K		No	ClinGen Ensembl
CA3997873 rs560502444	837	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760186793 CA3997872	838	M>V		No	ClinGen ExAC TOPMed gnomAD
rs377031056 CA3997871	839	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA365640696 rs1455863469	841	E>A		No	ClinGen gnomAD
rs1346088981 CA365640678	844	E>K		No	ClinGen gnomAD
CA365640668 rs1451273055	845	E>G		No	ClinGen gnomAD
CA147023189 rs981756305	845	E>K		No	ClinGen TOPMed gnomAD
CA365640670 rs981756305	845	E>Q		No	ClinGen TOPMed gnomAD
CA365640656 rs1322300559	847	Q>E		No	ClinGen TOPMed
CA3997869 rs763375001	850	N>S		No	ClinGen ExAC gnomAD
rs180705552 CA3997866	851	G>E		No	ClinGen 1000Genomes ExAC
rs768299444 CA3997867 CA365640628	851	G>R		No	ClinGen ExAC TOPMed gnomAD
rs915941948 CA147023155	852	E>G		No	ClinGen TOPMed gnomAD
rs771561555 CA3997864	853	V>M		No	ClinGen ExAC gnomAD
rs1229909689 CA365640610	854	S>F		No	ClinGen gnomAD
CA3997863 rs148749534	854	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA365640603 rs115490280	855	H>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1342226678 CA365640607	855	H>N		No	ClinGen gnomAD
CA3997862 rs115490280	855	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA365640605 rs1342226678	855	H>Y		No	ClinGen gnomAD
CA147023126 rs1042703599	858	I>T		No	ClinGen TOPMed
TCGA novel	859	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3997861 rs770745872	861	L>S		No	ClinGen ExAC gnomAD
CA365640537 rs1295582720	865	I>V		No	ClinGen gnomAD
CA3997859 rs777869391	866	C>F		No	ClinGen ExAC TOPMed gnomAD
CA3997857 rs752857429	867	C>F		No	ClinGen ExAC
CA3997858 rs756291829	867	C>S		No	ClinGen ExAC gnomAD
rs1486162310 CA365640514	868	S>L		No	ClinGen TOPMed gnomAD
rs752382034 CA3997825	871	P>T		No	ClinGen ExAC gnomAD
CA365640450 rs1416655535	876	E>D		No	ClinGen gnomAD
CA365640448 rs1184936760	877	M>V		No	ClinGen gnomAD
TCGA novel	878	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767110319 CA3997824	878	V>L		No	ClinGen ExAC
TCGA novel	881	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3997822 rs773781736	882	D>V		No	ClinGen ExAC gnomAD
CA3997823 rs759063261	882	D>Y		No	ClinGen ExAC gnomAD
rs1439040723 CA365640387	886	R>K		No	ClinGen TOPMed
TCGA novel	886	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3997820 rs765799858	889	I>S		No	ClinGen ExAC gnomAD
CA3997818 rs377557388	891	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA365640325 rs1272839107	895	P>R		No	ClinGen gnomAD
rs747857496 CA3997816	896	I>V		No	ClinGen ExAC TOPMed gnomAD
CA147020024 CA365640305 rs904301925	898	Q>H		No	ClinGen TOPMed gnomAD
CA365640283 rs1322331982	902	K>E		No	ClinGen TOPMed gnomAD
rs1322331982 CA365640284	902	K>Q		No	ClinGen TOPMed gnomAD
CA365640280 rs1435590413	902	K>R		No	ClinGen gnomAD
CA365640275 rs1393445454	903	T>A		No	ClinGen gnomAD
CA365640269 rs1161168181	904	I>V		No	ClinGen gnomAD
rs1375943439 CA365640245	907	E>G		No	ClinGen gnomAD
CA3997811 rs758386746	908	S>F		No	ClinGen ExAC gnomAD
CA365640232 rs1172652447	909	P>L		No	ClinGen TOPMed gnomAD
rs534058612 CA147019980	909	P>S		No	ClinGen TOPMed
rs1042625111 CA147019968	910	Q>*		No	ClinGen TOPMed
CA3997785 rs749789634	914	G>R		No	ClinGen ExAC gnomAD
rs1276786492 CA365640180	916	G>S		No	ClinGen gnomAD
CA365640163 rs1335290519	918	D>V		No	ClinGen TOPMed gnomAD
CA3997783 rs756444268	919	S>L		No	ClinGen ExAC TOPMed gnomAD
CA365640156 rs756444268	919	S>W		No	ClinGen ExAC TOPMed gnomAD
CA3997779 rs144870570	921	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3997780 rs144870570	921	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3997778 rs144870570	921	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA365640140 rs1305924340	922	L>F		No	ClinGen gnomAD
rs753806085 CA365640139	923	L>V		No	ClinGen ExAC TOPMed gnomAD
CA3997774 rs61731764	925	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA147018047 rs990214106	926	Q>H		No	ClinGen gnomAD
CA3997773 rs775807331	926	Q>K		No	ClinGen ExAC gnomAD
rs149169560 CA3997772	928	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1479234623 CA365640111	928	I>V		No	ClinGen gnomAD
CA365640104 rs764464330	929	T>A		No	ClinGen TOPMed
rs764464330 CA147018033	929	T>S		No	ClinGen TOPMed
rs759667681 COSM594368 CA3997771	932	S>F	lung Variant assessed as Somatic; impact. skin [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA
CA3997767 rs778217407	933	V>G		No	ClinGen ExAC gnomAD
rs145851233 CA3997769	933	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3997768 rs145851233	933	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs942613502 CA147017936	934	S>L		No	ClinGen TOPMed
CA365640067 rs760962588	936	T>A		No	ClinGen ExAC gnomAD
CA3997765 rs199859070	936	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3997766 rs760962588	936	T>P		No	ClinGen ExAC gnomAD
rs1463346852 CA365640059	937	T>K		No	ClinGen TOPMed
CA365640052 rs1324396450	938	T>I		No	ClinGen TOPMed
rs1031648055 CA147017867	942	T>I		No	ClinGen Ensembl
CA3997762 rs779768264	943	K>R		No	ClinGen ExAC gnomAD
rs897127860 CA147016087	945	V>A		No	ClinGen TOPMed
CA3997746 rs762975899	945	V>I		No	ClinGen ExAC TOPMed gnomAD
CA365639987 rs1227365726	947	G>C		No	ClinGen gnomAD
TCGA novel	947	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1450845776 CA365639979	948	G>E		No	ClinGen TOPMed gnomAD
rs1285393819 CA365639982	948	G>R		No	ClinGen TOPMed gnomAD
CA3997744 rs770228567	950	S>Y		No	ClinGen ExAC gnomAD
rs373063956 CA3997743	953	R>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs373063956 CA3997742	953	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs564752820 CA3997741	957	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA3997740 rs546185609	957	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3997739 rs368813677	958	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1411736024 CA365639905	960	I>V		No	ClinGen gnomAD
CA3997738 rs756853492	964	G>R		No	ClinGen ExAC gnomAD
CA3997737 rs374970416	965	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1392206687 CA365639863	966	I>T		No	ClinGen TOPMed
rs756191073 CA3997735	967	D>H		No	ClinGen ExAC TOPMed gnomAD
CA365639853 rs1466130092	968	H>N		No	ClinGen gnomAD
rs924698049 CA147016006	968	H>Q		No	ClinGen TOPMed gnomAD
CA365639806 rs1276886087	973	A>S		No	ClinGen gnomAD
rs751310395 CA3997712	975	A>V		No	ClinGen ExAC gnomAD
rs1562309711 CA365639783	976	I>M		No	ClinGen Ensembl
rs1306209703 CA365639780	977	R>K		No	ClinGen gnomAD
rs1431588364 CA365639758	980	R>T		No	ClinGen gnomAD
rs1211488807 CA365639750	981	E>G		No	ClinGen TOPMed
rs758685159 CA3997709	986	M>L		No	ClinGen ExAC gnomAD
CA365639713 rs1412603236	986	M>T		No	ClinGen gnomAD
CA3997708 rs750629350	987	S>L		No	ClinGen ExAC gnomAD
CA147010621 rs926217746	993	V>L		No	ClinGen Ensembl
rs1562309433 CA365639665	994	H>Y		No	ClinGen Ensembl
rs61731767 CA3997704	998	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3997702 CA365639625 rs776066203	999	L>F		No	ClinGen ExAC gnomAD
CA365639621 rs1210010003	1000	A>G		No	ClinGen gnomAD
TCGA novel	1002	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201780372 CA3997701	1003	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3997699 rs772966149	1004	E>A		No	ClinGen ExAC gnomAD
rs200523569 CA3997700	1004	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD

No associated diseases with O43491

10 regional properties for O43491

Type	Name	Position	InterPro Accession
domain	FERM domain	218 - 499	IPR000299
domain	SAB domain	630 - 670	IPR007477
domain	Band 4.1, C-terminal	892 - 998	IPR008379
domain	FERM adjacent	506 - 552	IPR014847
domain	FERM, N-terminal	222 - 284	IPR018979
domain	FERM, C-terminal PH-like domain	413 - 503	IPR018980
conserved_site	FERM conserved site	272 - 300	IPR019747-1
conserved_site	FERM conserved site	379 - 408	IPR019747-2
domain	FERM central domain	301 - 409	IPR019748
domain	Band 4.1 domain	214 - 409	IPR019749

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytoskeleton Cytoplasm, cell cortex Cell membrane
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
cell cortex	The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins.
cell junction	A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
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.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
spectrin	Membrane associated dimeric protein (240 and 220 kDa) of erythrocytes. Forms a complex with ankyrin, actin and probably other components of the membrane cytoskeleton, so that there is a mesh of proteins underlying the plasma membrane, potentially restricting the lateral mobility of integral proteins.

4 GO annotations of molecular function

Name	Definition
actin binding	Binding to monomeric or multimeric forms of actin, including actin filaments.
PH domain binding	Binding to a PH domain (pleckstrin homology) of a protein, a domain of about 100 residues that occurs in a wide range of proteins involved in intracellular signaling or as constituents of the cytoskeleton.
spectrin binding	Binding to spectrin, a protein that is the major constituent of the erythrocyte cytoskeletal network. It associates with band 4.1 (see band protein) and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane. It is composed of nonhomologous chains, alpha and beta, which aggregate side-to-side in an antiparallel fashion to form dimers, tetramers, and higher polymers.
structural molecule activity	The action of a molecule that contributes to the structural integrity of a complex or its assembly within or outside a cell.

5 GO annotations of biological process

Name	Definition
actomyosin structure organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures containing both actin and myosin or paramyosin. The myosin may be organized into filaments.
cell cycle	The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division.
cell division	The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
cortical actin cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of actin-based cytoskeletal structures in the cell cortex, i.e. just beneath the plasma membrane.
positive regulation of protein localization to cell cortex	Any process that activates or increases the frequency, rate or extent of protein localization to cell cortex.

13 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9N179	EPB41	Protein 4.1	Bos taurus (Bovine)	PR
Q9HCM4	EPB41L5	Band 4.1-like protein 5	Homo sapiens (Human)	PR
Q9HCS5	EPB41L4A	Band 4.1-like protein 4A	Homo sapiens (Human)	PR
Q7Z6J6	FRMD5	FERM domain-containing protein 5	Homo sapiens (Human)	PR
A2A2Y4	FRMD3	FERM domain-containing protein 3	Homo sapiens (Human)	PR
Q9H4G0	EPB41L1	Band 4.1-like protein 1	Homo sapiens (Human)	PR
P11171	EPB41	Protein 4.1	Homo sapiens (Human)	PR
Q9Y2J2	EPB41L3	Band 4.1-like protein 3	Homo sapiens (Human)	PR
Q9Z2H5	Epb41l1	Band 4.1-like protein 1	Mus musculus (Mouse)	PR
P48193	Epb41	Protein 4.1	Mus musculus (Mouse)	PR
Q9WV92	Epb41l3	Band 4.1-like protein 3	Mus musculus (Mouse)	PR
O70318	Epb41l2	Band 4.1-like protein 2	Mus musculus (Mouse)	PR
Q9WTP0	Epb41l1	Band 4.1-like protein 1	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MTTEVGSVSE	VKKDSSQLGT	DATKEKPKEV	AENQQNQSSD	PEEEKGSQPP	PAAESQSSLR
70	80	90	100	110	120
RQKREKETSE	SRGISRFIPP	WLKKQKSYTL	VVAKDGGDKK	EPTQAVVEEQ	VLDKEEPLPE
130	140	150	160	170	180
EQRQAKGDAE	EMAQKKQEIK	VEVKEEKPSV	SKEEKPSVSK	VEMQPTELVS	KEREEKVKET
190	200	210	220	230	240
QEDKLEGGAA	KRETKEVQTN	ELKAEKASQK	VTKKTKTVQC	KVTLLDGTEY	SCDLEKHAKG
250	260	270	280	290	300
QVLFDKVCEH	LNLLEKDYFG	LLFQESPEQK	NWLDPAKEIK	RQLRNLPWLF	TFNVKFYPPD
310	320	330	340	350	360
PSQLTEDITR	YFLCLQLRQD	IASGRLPCSF	VTHALLGSYT	LQAELGDYDP	EEHGSIDLSE
370	380	390	400	410	420
FQFAPTQTKE	LEEKVAELHK	THRGLSPAQA	DSQFLENAKR	LSMYGVDLHH	AKDSEGVDIK
430	440	450	460	470	480
LGVCANGLLI	YKDRLRINRF	AWPKILKISY	KRSNFYIKVR	PAELEQFEST	IGFKLPNHRA
490	500	510	520	530	540
AKRLWKVCVE	HHTFYRLVSP	EQPPKAKFLT	LGSKFRYSGR	TQAQTRQAST	LIDRPAPHFE
550	560	570	580	590	600
RTSSKRVSRS	LDGAPIGVMD	QSLMKDFPGA	AGEISAYGPG	LVSIAVVQDG	DGRREVRSPT
610	620	630	640	650	660
KAPHLQLIEG	KKNSLRVEGD	NIYVRHSNLM	LEELDKAQED	ILKHQASISE	LKRNFMESTP
670	680	690	700	710	720
EPRPNEWEKR	RITPLSLQTQ	GSSHETLNIV	EEKKRAEVGK	DERVITEEMN	GKEISPGSGP
730	740	750	760	770	780
GEIRKVEPVT	QKDSTSLSSE	SSSSSSESEE	EDVGEYRPHH	RVTEGTIREE	QEYEEEVEEE
790	800	810	820	830	840
PRPAAKVVER	EEAVPEASPV	TQAGASVITV	ETVIQENVGA	QKIPGEKSVH	EGALKQDMGE
850	860	870	880	890	900
EAEEEPQKVN	GEVSHVDIDV	LPQIICCSEP	PVVKTEMVTI	SDASQRTEIS	TKEVPIVQTE
910	920	930	940	950	960
TKTITYESPQ	IDGGAGGDSG	TLLTAQTITS	ESVSTTTTTH	ITKTVKGGIS	ETRIEKRIVI
970	980	990	1000
TGDGDIDHDQ	ALAQAIREAR	EQHPDMSVTR	VVVHKETELA	EEGED