AiPD: Autoinhibited Protein Database

Q02224

Gene name	CENPE
Protein name	Centromere-associated protein E
Names	Centromere protein E, CENP-E, Kinesin-7, Kinesin-related protein CENPE
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1062
EC number
Protein Class	CENTROMERE PROTEIN E (PTHR47968)

Descriptions

Autoinhibition of the Kinesin-7 family member CENPE involves direct interactions of the C-terminal tail domains with their motor domains. The autoinhibition can be relieved by phosphorylation of the inhibitory tail domain by the kinases monopolar spindle protein 1 (MPS1) and cyclin-dependent kinase 1 (CDK1)-cyclin B, resulting in processive motility on microtubules.

Autoinhibitory domains (AIDs)

Target domain	4-337 (Kinesin motor domain)
Relief mechanism	PTM
Assay	Split protein assay

AID

2333-2701 (C-terminal tail)

Target domain

4-337 (Kinesin motor domain)

Relief mechanism

PTM (Phosphorylation of C-terminal tail by MPS1 and CDK1)

Assay

Split protein assay

Accessory elements

No accessory elements

References

Verhey KJ et al. (2009) "Traffic control: regulation of kinesin motors", Nature reviews. Molecular cell biology, 10, 765-77

Espeut J et al. (2008) "Phosphorylation relieves autoinhibition of the kinetochore motor Cenp-E", Molecular cell, 29, 637-43

Autoinhibited structure

Activated structure

5 structures for Q02224

Entry ID	Method	Resolution	Chain	Position	Source
1T5C	X-ray	250 A	A/B	2-342	PDB
5JVP	X-ray	210 A	A/B/C/D/E/F	336-371	PDB
6M4I	X-ray	190 A	A/B	1-339	PDB
8HFH	X-ray	180 A	A	1-339	PDB
8OWI	X-ray	214 A	A/B	2452-2598	PDB

1737 variants for Q02224

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA3030788 rs758681737 RCV001333973 COSM1694765 RCV000585510 RCV000499930	102	H>Y	skin Microcephaly 13, primary, autosomal recessive [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV000413895 CA210896 RCV000144849 VAR_072429 rs144716013	933	D>N	MCPH13; results in defective mitotic spindle formation and chromosome segregation; results in delayed mitotic progression Microcephaly 13, primary, autosomal recessive [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000722088 CA357781360 rs1560630597	1263	A>G	Autistic disorder [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs141488085 VAR_072430 RCV001847771 RCV000144850 CA210897	1355	K>E	MCPH13; results in defective mitotic spindle formation and chromosome segregation; results in delayed mitotic progression Microcephaly 13, primary, autosomal recessive [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
CA3029699 rs114399328 RCV001332041	1679	E>K	Microcephaly 13, primary, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs369337735 RCV001333974 CA3029203	2396	S>N	Microcephaly 13, primary, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1264253462 CA357793286	2	A>E		No	ClinGen TOPMed gnomAD
rs1264253462 CA357793281	2	A>V		No	ClinGen TOPMed gnomAD
rs373184561 CA3030877	3	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA102734331 rs755136355	3	E>V		No	ClinGen TOPMed gnomAD
rs956039808 CA102734315	5	G>E		No	ClinGen gnomAD
CA102734319 rs1019293173	5	G>R		No	ClinGen TOPMed
CA357793242 rs1367379834	6	A>P		No	ClinGen gnomAD
CA357793241 rs1367379834	6	A>S		No	ClinGen gnomAD
CA357793166 rs1248524945	13	V>M		No	ClinGen TOPMed
rs779727126 CA3030876	16	L>P		No	ClinGen ExAC TOPMed gnomAD
CA357793101 rs1355787155	18	S>I		No	ClinGen TOPMed
rs1350270226 CA357793095	19	R>G		No	ClinGen gnomAD
CA3030861 rs768480235	21	E>A		No	ClinGen ExAC TOPMed gnomAD
rs11552738 CA3030860	22	S>L		No	ClinGen 1000Genomes ExAC gnomAD
CA3030859 rs779629385	23	L>F		No	ClinGen ExAC gnomAD
rs957123580 CA102733552	24	G>R		No	ClinGen TOPMed
CA3030856 rs533108216	27	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA3030855 rs756775709	28	Q>R		No	ClinGen ExAC gnomAD
CA357792575 rs1352101008	29	V>I		No	ClinGen TOPMed gnomAD
CA357792556 rs1578708049	30	Y>C		No	ClinGen Ensembl
rs13126562 CA102733546	32	K>T		No	ClinGen Ensembl
CA357792512 rs1308199008	33	T>I		No	ClinGen gnomAD
rs865884196 CA102733545	35	N>S		No	ClinGen gnomAD
rs753285937 CA3030854	37	V>A		No	ClinGen ExAC TOPMed gnomAD
rs768102598 CA3030853	39	Y>C		No	ClinGen ExAC gnomAD
rs1411852049 CA357792394	42	D>E		No	ClinGen gnomAD
rs1466145709 CA357792400	42	D>G		No	ClinGen gnomAD
CA3030852 rs755359324	43	G>R		No	ClinGen ExAC gnomAD
CA3030851 rs375644573	44	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA357792382 rs1270286644	44	S>R		No	ClinGen gnomAD
rs866905901 CA102733196	51	R>C		No	ClinGen Ensembl
CA357792203 rs1390317195	51	R>H		No	ClinGen TOPMed
rs1166123870 COSM1671183 CA357792146	55	G>V	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA102733191 rs907935541	57	E>*		No	ClinGen Ensembl
CA3030823 rs758652045	58	T>A		No	ClinGen ExAC gnomAD
RCV000498191 CA357792063 rs1354503272	62	V>M		No	ClinGen ClinVar TOPMed dbSNP
CA3030822 rs750686095	63	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs111853599 CA102733190	63	Y>H		No	ClinGen gnomAD
CA3030821 rs765423806	68	A>V		No	ClinGen ExAC gnomAD
CA3030819 rs114536269	69	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375426954 CA3030818	70	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3030816 rs138076049	72	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1578706795 CA357791875	76	Q>R		No	ClinGen Ensembl
CA3030796 rs375316490	80	G>V		No	ClinGen ESP ExAC gnomAD
rs767332518 CA3030795	81	T>A		No	ClinGen ExAC gnomAD
CA357791764 rs1199865654	82	I>V		No	ClinGen TOPMed gnomAD
CA357791669 rs1268455756	89	A>T		No	ClinGen TOPMed
rs372291537 CA3030791	94	Y>H		No	ClinGen ESP ExAC gnomAD
CA357791582 rs1277337827	95	T>I		No	ClinGen gnomAD
rs1217008921 CA357791559	97	M>T		No	ClinGen gnomAD
rs911383220 CA102732976	98	G>C		No	ClinGen TOPMed
CA3030789 rs769386763	101	D>G		No	ClinGen ExAC gnomAD
rs1228156906 CA357791496	102	H>R		No	ClinGen gnomAD
CA357791484 rs1349020104	103	L>W		No	ClinGen TOPMed gnomAD
CA357791464 rs1310022576	105	V>I		No	ClinGen gnomAD
RCV000972405 rs115065523 CA3030785	109	A>G		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3030786 rs368879674	109	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs375057060 CA102732960	111	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs375057060 CA3030784	111	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA102732972 rs866069625	111	H>Y		No	ClinGen Ensembl
rs757567932 CA3030783	112	D>N		No	ClinGen ExAC gnomAD
rs774798761 CA3030766	120	F>C		No	ClinGen ExAC gnomAD
CA102732572 rs924429966	121	P>S		No	ClinGen TOPMed
CA357790494 rs1208704475	122	D>G		No	ClinGen TOPMed
CA357790484 RCV000498902 rs1553940921	123	R>G		No	ClinGen ClinVar Ensembl dbSNP
CA357790478 rs1412609788	123	R>K		No	ClinGen gnomAD
CA357790321 rs1243239681	132	M>V		No	ClinGen TOPMed gnomAD
rs1483320303 CA357790252	134	I>M		No	ClinGen TOPMed
rs1248082806 CA357790181	139	I>V		No	ClinGen TOPMed
rs1333574279 CA357790144	141	D>G		No	ClinGen gnomAD
CA3030758 rs199542061	146	T>P		No	ClinGen ExAC TOPMed gnomAD
CA3030759 rs199542061	146	T>S		No	ClinGen ExAC TOPMed gnomAD
CA102732548 rs889930003	147	Q>E		No	ClinGen TOPMed gnomAD
CA357790031 rs1383560614	149	M>T		No	ClinGen TOPMed gnomAD
rs1366593055 CA357789792	163	Y>C		No	ClinGen gnomAD
rs1406608723 CA357789723	168	T>I		No	ClinGen gnomAD
rs781536472 CA3030743	176	E>K		No	ClinGen ExAC gnomAD
CA3030742 rs749924114	177	M>I		No	ClinGen ExAC gnomAD
rs749924114 CA102732317	177	M>I		No	ClinGen ExAC gnomAD
rs1578703742 CA357789653	177	M>L		No	ClinGen Ensembl
CA357789629 rs1578703695	180	K>N		No	ClinGen Ensembl
CA357789622 rs1423741075	181	W>C		No	ClinGen gnomAD
rs747072051 CA3030741	181	W>L		No	ClinGen ExAC gnomAD
CA3030740 rs780209155	184	K>T		No	ClinGen ExAC gnomAD
rs1251266901 CA357789597	185	G>*		No	ClinGen gnomAD
CA357789590 rs1203293897	186	E>G		No	ClinGen gnomAD
CA3030728 rs770100455	188	S>N		No	ClinGen ExAC gnomAD
rs1234896911 CA357789538	191	Y>F		No	ClinGen TOPMed
rs1482320741 CA357789516	194	T>I		No	ClinGen gnomAD
rs1468848273 CA357789507	196	M>L		No	ClinGen TOPMed
rs777052588 CA3030726	201	S>G		No	ClinGen ExAC gnomAD
rs1012993872 CA102732193	206	I>V		No	ClinGen TOPMed gnomAD
CA3030723 rs143398214	208	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1245079403 CA357789340	217	G>C		No	ClinGen gnomAD
rs1245079403 CA357789339	217	G>R		No	ClinGen gnomAD
CA357789322 rs1461698015	219	P>L		No	ClinGen gnomAD
CA3030714 rs766970439	219	P>S		No	ClinGen ExAC gnomAD
CA102732116 rs921469888	221	N>S		No	ClinGen Ensembl
rs1394545511 CA357789278	226	V>I		No	ClinGen TOPMed
rs566519551 CA3030713	230	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA3030688 rs138379874	247	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1472983434 CA357788864	248	A>P		No	ClinGen TOPMed
CA102728089 rs993799620	249	G>S		No	ClinGen TOPMed
CA3030671 rs753097044	251	R>Q		No	ClinGen ExAC gnomAD
CA357788694 RCV000492883 rs1131691869	256	C>Y		No	ClinGen ClinVar Ensembl dbSNP
CA3030668 rs774385555	260	R>L		No	ClinGen ExAC gnomAD
rs766488653 CA3030667	264	I>V		No	ClinGen ExAC gnomAD
rs773194805 CA3030665	275	G>*		No	ClinGen ExAC gnomAD
CA357788545 rs1468138754	277	V>A		No	ClinGen gnomAD
CA3030664 rs769722090	277	V>L		No	ClinGen ExAC gnomAD
rs62327339 CA102727162	278	G>V		No	ClinGen Ensembl
rs375174075 CA3030653	279	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1312989494 CA357788522	279	G>V		No	ClinGen gnomAD
CA3030649 rs766578555	286	S>N		No	ClinGen ExAC gnomAD
CA357788447 rs1553937197 RCV000658441	290	R>Q		No	ClinGen ClinVar Ensembl dbSNP
rs1429689380 CA357788443	291	I>V		No	ClinGen gnomAD
rs765243925 CA3030646	294	N>K		No	ClinGen ExAC TOPMed gnomAD
rs750510870 CA3030647	294	N>S		No	ClinGen ExAC gnomAD
rs1412680348 CA357788405	296	L>F		No	ClinGen gnomAD
rs1446000501 CA357788372	301	K>N		No	ClinGen gnomAD
CA3030643 rs115429647	303	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs150628776 CA3030642	303	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA357788352 rs1289654646	305	I>V		No	ClinGen TOPMed
CA3030641 rs775340230	307	T>A		No	ClinGen ExAC TOPMed gnomAD
rs771845281 CA3030640	310	P>A		No	ClinGen ExAC gnomAD
CA3030638 rs778576369	311	V>L		No	ClinGen ExAC TOPMed gnomAD
CA357788307 rs1360278955	312	S>Y		No	ClinGen gnomAD
CA3030637 rs377141486	313	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1185741357 CA357788292	314	D>V		No	ClinGen gnomAD
CA357788282 rs1228798308	315	E>D		No	ClinGen TOPMed
rs1480288363 CA357788224	323	A>T		No	ClinGen TOPMed gnomAD
CA357788197 rs1427674746	327	K>E		No	ClinGen gnomAD
rs746132394 CA3030608	332	T>I		No	ClinGen ExAC gnomAD
CA357788115 rs1481660061	338	V>I		No	ClinGen gnomAD
rs764164589 CA3030604	340	T>S		No	ClinGen ExAC gnomAD
rs953457608 CA102726126	348	Y>C		No	ClinGen TOPMed gnomAD
rs1305864083 CA357788027	351	E>*		No	ClinGen gnomAD
CA357788014 rs1389120019	353	M>L		No	ClinGen gnomAD
rs756045815 CA3030589	362	V>F		No	ClinGen ExAC TOPMed gnomAD
rs756045815 CA102725510	362	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3030586 rs756221796	366	T>M		No	ClinGen ExAC TOPMed gnomAD
CA102725470 rs889619029	367	R>Q		No	ClinGen TOPMed gnomAD
CA357787901 rs1339272482	367	R>W		No	ClinGen gnomAD
rs151207142 CA102725469	371	M>I		No	ClinGen ESP TOPMed gnomAD
CA357787869 rs1455521630	372	E>Q		No	ClinGen gnomAD
CA357787845 rs1364660536	375	Q>E		No	ClinGen gnomAD
rs1332032382 CA357787793	382	E>G		No	ClinGen TOPMed
rs1163005437 CA357787776	384	D>G		No	ClinGen TOPMed gnomAD
rs767537906 CA3030584	385	L>F		No	ClinGen ExAC gnomAD
rs754888751 CA3030583	387	Q>*		No	ClinGen ExAC gnomAD
CA3030582 rs751405701	388	K>E		No	ClinGen ExAC gnomAD
CA3030581 rs375549626	389	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000922278 rs115442639 CA3030580	391	N>Y		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA357787704 rs201423076	394	I>M		No	ClinGen TOPMed
CA357787674 rs371226626	399	R>G		No	ClinGen ESP TOPMed gnomAD
rs150965688 CA3030577	399	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA102725405 rs371226626	399	R>W		No	ClinGen ESP TOPMed gnomAD
rs776031909 CA3030576	400	M>V		No	ClinGen ExAC
CA102725395 rs528315425	401	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746304121 CA3030574	403	T>N		No	ClinGen ExAC gnomAD
rs111737112 CA102725377	407	L>P		No	ClinGen Ensembl
rs778023977 CA3030570	408	T>K		No	ClinGen ExAC TOPMed gnomAD
CA3030571 rs778023977	408	T>M		No	ClinGen ExAC TOPMed gnomAD
CA357787610 rs1415095963	410	Q>R		No	ClinGen TOPMed
CA357787387 rs1166099245	415	A>T		No	ClinGen gnomAD
CA357787369 rs1477102084	417	R>I		No	ClinGen TOPMed
CA102751591 rs867862574	424	C>F		No	ClinGen Ensembl
CA357787303 rs1479245338	427	K>R		No	ClinGen gnomAD
CA3030558 rs527884786	428	I>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA357787295 rs527884786	428	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA357787285 rs1198873108	429	N>K		No	ClinGen gnomAD
rs760054720 CA3030557	432	K>N		No	ClinGen ExAC TOPMed gnomAD
rs760054720 CA357787262	432	K>N		No	ClinGen ExAC TOPMed gnomAD
rs900389839 CA102751584	432	K>R		No	ClinGen gnomAD
rs142219639 CA102751582	433	N>S		No	ClinGen ESP TOPMed gnomAD
CA357787247 rs1262889241	435	N>D		No	ClinGen gnomAD
rs1332443210 CA357787237	436	Y>S		No	ClinGen TOPMed
rs1232815082 CA357787213	439	Q>P		No	ClinGen gnomAD
CA3030555 rs771239165	441	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1347612324 CA357787189	442	I>M		No	ClinGen gnomAD
rs560729457 CA3030552	446	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3030553 rs560729457	446	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3030551 rs770148339	447	T>A		No	ClinGen ExAC gnomAD
CA357787159 rs1326722927	447	T>I		No	ClinGen gnomAD
rs748324776 CA3030550	448	T>R		No	ClinGen ExAC
rs1175438043 CA357787135	451	H>R		No	ClinGen gnomAD
CA357787137 rs1401003761	451	H>Y		No	ClinGen gnomAD
CA357787130 rs1250079681	452	K>E		No	ClinGen TOPMed
rs912657532 CA102751544	455	I>L		No	ClinGen TOPMed gnomAD
rs912657532 CA102751546	455	I>V		No	ClinGen TOPMed gnomAD
rs1269792952 CA357787094	457	L>*		No	ClinGen TOPMed
rs746964774 CA3030547	459	R>*		No	ClinGen ExAC TOPMed gnomAD
CA3030545 rs780023475	459	R>Q		No	ClinGen ExAC gnomAD
CA102751517 rs1029561933	463	E>Q		No	ClinGen TOPMed
CA102751072 rs1035397083	464	S>F		No	ClinGen TOPMed
rs1405115016 CA357787034	465	V>L		No	ClinGen TOPMed
CA357787016 rs1358847993	467	S>L		No	ClinGen gnomAD
rs762157678 CA3030527	470	D>E		No	ClinGen ExAC TOPMed gnomAD
CA357786997 rs1243645440	470	D>G		No	ClinGen gnomAD
CA3030526 rs776966645	473	S>G		No	ClinGen ExAC gnomAD
CA3030525 rs768911204	474	N>D		No	ClinGen ExAC gnomAD
rs1283362786 CA357786961	475	T>I		No	ClinGen TOPMed
CA357786949 rs1419719970	477	D>V		No	ClinGen gnomAD
rs772048846 CA357786933	480	S>G		No	ClinGen ExAC TOPMed gnomAD
rs772048846 CA3030522	480	S>R		No	ClinGen ExAC TOPMed gnomAD
CA357786923 rs1415229155	481	E>G		No	ClinGen gnomAD
rs149119830 CA3030520	488	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs149119830 CA3030519	488	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs149119830 CA357786869	488	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1244012359 CA357786858	490	L>Q		No	ClinGen TOPMed gnomAD
rs1021204764 CA102751039	491	L>P		No	ClinGen TOPMed gnomAD
CA3030516 rs755635255	492	N>D		No	ClinGen ExAC TOPMed gnomAD
rs564166593 CA3030515	492	N>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1323433725 CA357786849	492	N>S		No	ClinGen gnomAD
CA102750582 rs368114853	496	I>M		No	ClinGen ESP
RCV000513305 rs762249569 CA3030509	496	I>T		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA102750579 rs552444096	497	E>D		No	ClinGen gnomAD
rs552444096 CA357786798	497	E>D		No	ClinGen gnomAD
CA357786804 rs1442389687	497	E>K		No	ClinGen TOPMed
rs868111261 CA102750565	502	S>*		No	ClinGen Ensembl
rs777054903 CA3030508	503	L>F		No	ClinGen ExAC gnomAD
CA3030506 rs755694872	504	R>H		No	ClinGen ExAC TOPMed gnomAD
rs755694872 CA3030507	504	R>L		No	ClinGen ExAC TOPMed gnomAD
CA357786748 rs1203767078	505	A>G		No	ClinGen gnomAD
rs370495322 RCV000442018 CA3030505	507	Y>C		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA357786734 rs370495322	507	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA357786737 rs1259724978	507	Y>H		No	ClinGen gnomAD
CA357786735 rs370495322	507	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA102750539 rs200127868	508	D>G		No	ClinGen 1000Genomes
CA357786729 rs1344470376	508	D>N		No	ClinGen gnomAD
rs745845891 CA3030504	509	N>S		No	ClinGen ExAC TOPMed gnomAD
rs745845891 CA3030503	509	N>T		No	ClinGen ExAC TOPMed gnomAD
CA3030501 rs770762213	511	V>A		No	ClinGen ExAC gnomAD
rs774240954 CA3030502	511	V>I		No	ClinGen ExAC gnomAD
rs1297145522 CA357786698	513	D>G		No	ClinGen TOPMed gnomAD
CA3030500 rs749067731	514	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA3030498 rs755806251	516	Q>E		No	ClinGen ExAC gnomAD
rs755806251 CA3030499	516	Q>K		No	ClinGen ExAC gnomAD
rs868644860 CA102750504	518	R>*		No	ClinGen gnomAD
CA3030497 rs747708481	518	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA357786620 rs1472280905	524	M>I		No	ClinGen TOPMed
CA3030496 rs780785280	524	M>V		No	ClinGen ExAC gnomAD
CA3030495 rs753184129	526	L>F		No	ClinGen ExAC gnomAD
rs1175604824 CA357786559	532	N>K		No	ClinGen gnomAD
CA102750483 rs61756289	534	L>F		No	ClinGen Ensembl
CA357786511 rs1198969543	539	A>P		No	ClinGen TOPMed gnomAD
CA357786503 rs1470865392	540	L>P		No	ClinGen TOPMed
CA357786501 rs1292588201	541	E>K		No	ClinGen TOPMed gnomAD
CA357786471 rs1410200504	545	K>E		No	ClinGen TOPMed
rs757766366 CA3030492	546	K>I		No	ClinGen ExAC TOPMed gnomAD
CA357786460 rs757766366	546	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1348121943 CA357786453	547	D>G		No	ClinGen TOPMed
rs1381288923 CA357786418	550	M>V		No	ClinGen gnomAD
CA3030474 rs779647011	553	I>T		No	ClinGen ExAC gnomAD
CA357786387 rs1384444579	554	H>R		No	ClinGen TOPMed gnomAD
rs1287350091 CA357786363	557	S>L		No	ClinGen TOPMed gnomAD
CA357786364 rs1287350091	557	S>W		No	ClinGen TOPMed gnomAD
rs778228546 CA3030471	558	N>S		No	ClinGen ExAC TOPMed gnomAD
rs756398766 CA3030470	560	K>E		No	ClinGen ExAC TOPMed gnomAD
CA3030469 rs368921940	561	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA357786338 rs1215507253	561	N>S		No	ClinGen TOPMed
rs767620616 CA3030468	562	L>V		No	ClinGen ExAC gnomAD
rs1189277464 CA357786326	563	V>I		No	ClinGen gnomAD
CA357786318 rs1300865877	564	K>R		No	ClinGen gnomAD
rs1424186842 CA357786309	565	H>L		No	ClinGen gnomAD
rs1476457855 CA357786293	567	E>D		No	ClinGen TOPMed
CA357786290 rs1186445540	568	V>I		No	ClinGen TOPMed
rs149986977 CA3030466	573	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1578640075 CA357786243	574	E>D		No	ClinGen Ensembl
rs1292588167 CA357786229	575	N>D		No	ClinGen gnomAD
CA3030449 rs529474883	575	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA357786227 rs1210924628	575	N>S		No	ClinGen gnomAD
rs1198110730 CA357786216	576	E>D		No	ClinGen TOPMed
CA3030446 rs766488564	581	V>E		No	ClinGen ExAC gnomAD
CA3030445 rs762998292	582	E>K		No	ClinGen ExAC gnomAD
CA3030444 rs750434530	583	L>P		No	ClinGen ExAC gnomAD
CA357786172 rs750434530	583	L>R		No	ClinGen ExAC gnomAD
rs1324331819 CA357786165	585	R>G		No	ClinGen gnomAD
rs761747799 CA3030442	587	K>T		No	ClinGen ExAC gnomAD
rs1560648372 CA357786142	588	E>K		No	ClinGen Ensembl
rs1193266514 CA357786119	591	I>L		No	ClinGen TOPMed gnomAD
rs763935518 CA3030440	591	I>T		No	ClinGen ExAC gnomAD
rs369390631 CA102743960	594	L>R		No	ClinGen ESP TOPMed
rs760432030 CA3030438	595	Q>*		No	ClinGen ExAC gnomAD
CA357786093 rs760432030	595	Q>K		No	ClinGen ExAC gnomAD
CA357786090 rs1247924035	595	Q>R		No	ClinGen TOPMed gnomAD
CA357786064 rs1458507627	598	I>M		No	ClinGen gnomAD
CA357786066 rs1200847482	598	I>T		No	ClinGen gnomAD
CA357786052 rs1262698966	600	S>F		No	ClinGen gnomAD
CA3030435 rs745355521	601	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA357786047 rs1373437793	601	Q>P		No	ClinGen TOPMed
CA357786041 rs1347467049	602	K>E		No	ClinGen gnomAD
rs1214206990 CA357786036	602	K>N		No	ClinGen TOPMed gnomAD
CA357786037 rs1275501652	602	K>R		No	ClinGen gnomAD
rs139943753 CA3030434	604	E>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770204781 CA3030433	606	I>V		No	ClinGen ExAC TOPMed gnomAD
CA3030431 rs781569770	608	M>I		No	ClinGen ExAC TOPMed gnomAD
CA3030432 rs748629717	608	M>T		No	ClinGen ExAC TOPMed gnomAD
CA3030430 rs755305823	609	D>E		No	ClinGen ExAC gnomAD
CA3030428 rs780243749	611	S>P		No	ClinGen ExAC gnomAD
CA357785973 rs1426912431	612	Y>H		No	ClinGen gnomAD
CA3030408 rs746057926	616	S>G		No	ClinGen ExAC TOPMed gnomAD
CA3030406 rs144782566	616	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3030407 rs144782566	616	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144782566 CA357785931	616	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753764315 CA3030405	617	I>T		No	ClinGen ExAC gnomAD
rs780446063 CA3030404	619	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1192788041 CA357785873	624	K>R		No	ClinGen gnomAD
rs773493812 CA102741247	626	T>A		No	ClinGen Ensembl
CA357785854 rs1218283167	627	L>V		No	ClinGen gnomAD
rs199921711 CA3030402	629	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs545723213 CA3030401	631	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1476546841 CA357785818	632	T>S		No	ClinGen TOPMed
rs61758370 CA3030400	634	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1354242668 CA357785802	635	L>H		No	ClinGen gnomAD
CA357785804 rs1406785359	635	L>V		No	ClinGen TOPMed
rs751194057 CA3030399	636	D>G		No	ClinGen ExAC gnomAD
rs114613121 RCV001819094 RCV000969477 CA3030398	638	K>E		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA357785771 rs1284603843	640	E>Q		No	ClinGen gnomAD
CA357785769 rs1349118266	640	E>V		No	ClinGen TOPMed
CA357785764 rs1560646004	641	S>T		No	ClinGen Ensembl
CA357785751 rs1338048151	643	F>V		No	ClinGen gnomAD
rs934592564 CA102741215	645	R>T		No	ClinGen gnomAD
rs769159238 CA3030394	646	S>I		No	ClinGen ExAC gnomAD
rs761115610 CA3030393	647	E>D		No	ClinGen ExAC TOPMed gnomAD
CA3030390 rs746113203	655	M>I		No	ClinGen ExAC gnomAD
rs1398196739 CA357785664	655	M>T		No	ClinGen TOPMed
rs754780745 CA3030380	657	E>G		No	ClinGen ExAC gnomAD
rs766052125 CA3030378	658	L>F		No	ClinGen ExAC gnomAD
rs762447508 CA3030377	659	A>G		No	ClinGen ExAC TOPMed gnomAD
rs749952716 CA3030376	660	T>A		No	ClinGen ExAC TOPMed gnomAD
CA357785613 rs1439196761	661	T>I		No	ClinGen gnomAD
CA357785605 rs764680479	662	Y>*		No	ClinGen ExAC gnomAD
rs1351040718 CA357785608	662	Y>C		No	ClinGen gnomAD
CA102741145 rs946716188	665	M>T		No	ClinGen TOPMed
CA357785560 rs1464403379	668	D>G		No	ClinGen gnomAD
rs1425990215 CA357785550	669	I>M		No	ClinGen gnomAD
CA357785552 rs1553933034	669	I>T		No	ClinGen Ensembl
CA357785544 rs1171689648	670	Q>L		No	ClinGen TOPMed gnomAD
CA102741140 rs2720466	671	L>*		No	ClinGen Ensembl
rs370702407 CA3030374	674	S>N		No	ClinGen ESP ExAC gnomAD
rs995651535 CA102741134	675	Q>R		No	ClinGen TOPMed
rs141992921 CA3030372	678	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA102741129 rs934050608	681	K>E		No	ClinGen Ensembl
rs201128037 CA3030370	684	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1197719147 CA357785438	685	D>N		No	ClinGen gnomAD
rs749462294 CA3030368	693	A>T		No	ClinGen ExAC gnomAD
rs778020736 CA3030367	696	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1311301857 CA357785348	697	I>M		No	ClinGen gnomAD
CA3030366 rs769953452	699	K>N		No	ClinGen ExAC gnomAD
rs1220457467 CA357785332	700	L>F		No	ClinGen gnomAD
CA357785324 rs1368845752	701	T>N		No	ClinGen gnomAD
rs781176053 CA3030364	704	I>T		No	ClinGen ExAC TOPMed gnomAD
CA3030365 rs748146787	704	I>V		No	ClinGen ExAC gnomAD
rs1216555324 CA357785263	711	D>N		No	ClinGen TOPMed
CA3030344 rs776509681	714	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA102740909 rs555738979	715	N>S		No	ClinGen Ensembl
rs922695430 CA102740897	718	L>M		No	ClinGen Ensembl
rs1417775699 CA357785184	720	G>E		No	ClinGen gnomAD
CA102740888 rs972918197	723	T>A		No	ClinGen gnomAD
rs1353271272 CA357785146	726	Q>E		No	ClinGen gnomAD
rs779933538 CA3030341	726	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1253595186 CA357785130	728	E>*		No	ClinGen gnomAD
rs910020002 CA102740856	729	L>P		No	ClinGen TOPMed gnomAD
rs1284667927 CA357785091	733	V>A		No	ClinGen gnomAD
rs1560645004 CA357785095	733	V>L		No	ClinGen Ensembl
CA102740851 rs984376335	735	E>K		No	ClinGen TOPMed
rs1478179810 CA357785071	736	N>S		No	ClinGen TOPMed
rs142355920 CA3030337	737	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1356391801 CA357785056	738	A>G		No	ClinGen gnomAD
rs371505307 CA3030335	740	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3030336 rs756823638	740	R>W		No	ClinGen ExAC TOPMed gnomAD
rs182744810 CA3030333	742	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1361086430 CA357785026	743	V>A		No	ClinGen gnomAD
CA3030332 rs751968425	743	V>I		No	ClinGen ExAC gnomAD
rs1396805132 CA357785022	744	I>V		No	ClinGen gnomAD
rs1340197603 CA357785012	745	L>F		No	ClinGen gnomAD
CA357784996 rs1578634297	748	E>A		No	ClinGen Ensembl
rs534189859 CA3030331	748	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1385538527 CA357784972	751	S>C		No	ClinGen TOPMed
rs1385538527 CA357784973	751	S>Y		No	ClinGen TOPMed
CA102740821 rs1002952464	753	P>L		No	ClinGen TOPMed
rs998678450 CA102740825	753	P>S		No	ClinGen Ensembl
CA3030328 rs765562848	756	V>I		No	ClinGen ExAC
rs776797230 CA3030326	757	E>G		No	ClinGen ExAC gnomAD
rs762071659 CA3030327	757	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA3030324 rs547029024	759	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1275808405 CA357784923	760	R>G		No	ClinGen TOPMed
CA357784886 rs1450393229	763	I>L		No	ClinGen gnomAD
CA357784880 rs1270104911	764	Q>E		No	ClinGen gnomAD
rs775469407 CA3030306	765	D>E		No	ClinGen ExAC TOPMed gnomAD
CA3030307 rs375734236	765	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1389610818 CA357784872	765	D>H		No	ClinGen TOPMed
rs372263654 CA3030305	766	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1274326572 CA357784834	770	L>R		No	ClinGen gnomAD
rs759408671 CA3030304	770	L>V		No	ClinGen ExAC gnomAD
CA3030303 rs774151339	771	H>R		No	ClinGen ExAC TOPMed gnomAD
rs867017608 CA102740021	772	I>V		No	ClinGen TOPMed gnomAD
rs1303351508 CA357784819	773	I>L		No	ClinGen gnomAD
rs368241887 CA3030302	774	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA357784771 rs1578631490	779	K>N		No	ClinGen Ensembl
rs1329109575 CA357784764	780	L>F		No	ClinGen gnomAD
CA102739994 rs892824658	782	S>C		No	ClinGen Ensembl
rs1466852291 CA357784737	784	V>G		No	ClinGen gnomAD
CA3030300 rs749008102	785	V>L		No	ClinGen ExAC gnomAD
rs368819601 CA3030299	789	S>G		No	ClinGen ESP ExAC gnomAD
rs376748245 CA102739954	793	G>C		No	ClinGen ESP gnomAD
rs1258162915 CA357784665	795	L>F		No	ClinGen gnomAD
CA3030298 rs769413248	796	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1175998919 CA357784648	797	E>D		No	ClinGen TOPMed
CA357784642 rs1250507678	798	I>T		No	ClinGen TOPMed
rs1194769233 CA357784620	801	T>I		No	ClinGen gnomAD
CA357784596 rs1439673164	804	D>E		No	ClinGen gnomAD
CA357784601 rs1578631372	804	D>Y		No	ClinGen Ensembl
rs1236713639 CA357784583	807	T>A		No	ClinGen gnomAD
rs1236713639 CA357784584	807	T>P		No	ClinGen gnomAD
CA3030297 rs137915141	808	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780792339 CA3030296	808	T>I		No	ClinGen ExAC TOPMed gnomAD
CA357784574 rs1381108094	809	Q>*		No	ClinGen gnomAD
CA3030294 rs750922746	809	Q>R		No	ClinGen ExAC gnomAD
CA3030293 rs779464384	810	S>L		No	ClinGen ExAC gnomAD
rs548098501 CA3030291	811	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764214285 CA3030290	811	N>K		No	ClinGen ExAC TOPMed gnomAD
rs548098501 CA357784558	811	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3030289 rs760881866	812	Y>C		No	ClinGen ExAC gnomAD
CA357784533 rs1285293972	815	T>A		No	ClinGen TOPMed
CA3030287 rs145340141	815	T>I		No	ClinGen ESP ExAC TOPMed
CA357784524 rs1223135412	816	D>G		No	ClinGen TOPMed
CA357784508 rs1335922764	818	E>G		No	ClinGen gnomAD
CA3030285 rs774239321	819	F>I		No	ClinGen ExAC gnomAD
rs762642934 CA3030284	819	F>L		No	ClinGen ExAC gnomAD
CA3030281 rs373406773	822	F>S		No	ClinGen ESP ExAC gnomAD
CA357784451 rs115702258	826	H>L		No	ClinGen 1000Genomes ExAC
rs115702258 CA3030279	826	H>R		No	ClinGen 1000Genomes ExAC
CA357784441 rs1237082004	827	M>I		No	ClinGen gnomAD
rs768253576 CA3030278	827	M>T		No	ClinGen ExAC gnomAD
rs1180836527 CA357784447	827	M>V		No	ClinGen TOPMed gnomAD
CA357784412 rs1202947021	831	Q>R		No	ClinGen TOPMed
CA357784407 rs1216069959	832	K>E		No	ClinGen gnomAD
CA3030274 rs749615455	833	Y>C		No	ClinGen ExAC gnomAD
CA357784400 rs935798950	833	Y>H		No	ClinGen TOPMed gnomAD
CA102739801 rs935798950	833	Y>N		No	ClinGen TOPMed gnomAD
CA3030273 rs61751596	834	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA357784373 rs1283430889	836	V>G		No	ClinGen gnomAD
CA102739788 rs1039168117	838	E>D		No	ClinGen TOPMed gnomAD
rs375435042 CA3030272	838	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3030270 rs371196686	843	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA357784329 rs371196686	843	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3030269 rs755027563	844	N>I		No	ClinGen ExAC
CA357784308 rs1578630861	845	Q>H		No	ClinGen Ensembl
rs751555320 CA3030268	846	E>G		No	ClinGen ExAC gnomAD
rs766222913 CA3030267	850	L>V		No	ClinGen ExAC gnomAD
rs75568479 CA3030266 RCV000956242	851	S>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA357784256 rs1413504286	853	E>G		No	ClinGen gnomAD
CA357784252 rs1161893481	854	A>T		No	ClinGen TOPMed gnomAD
rs772905136 CA3030265	855	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA357784213 rs1363801876	859	S>A		No	ClinGen TOPMed
COSM1694760 CA357784211 rs1406251208	859	S>L	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1487363291 CA357784194	862	G>S		No	ClinGen gnomAD
rs1217834010 CA357784177	864	L>F		No	ClinGen gnomAD
rs372209751 CA3030261	866	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA3030260 rs140863976	867	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs776496410 CA3030243	868	L>F		No	ClinGen ExAC TOPMed gnomAD
rs776496410 CA357784143	868	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1367447593 CA357784134	869	S>C		No	ClinGen gnomAD
rs1443517504 CA357784129	870	Y>C		No	ClinGen gnomAD
rs763847485 CA3030242	870	Y>N		No	ClinGen ExAC gnomAD
rs151015099 CA3030241	871	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763407176 CA3030238	876	Q>H		No	ClinGen ExAC gnomAD
rs773744712 CA3030237	880	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3030236 rs377693402	880	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA357784050 rs1313521353	881	E>D		No	ClinGen TOPMed
rs1432692873 CA357784047	882	V>I		No	ClinGen gnomAD
CA3030235 rs376175124	885	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3030233 rs768887592	890	E>G		No	ClinGen ExAC gnomAD
rs1003028478 CA102739568	891	Q>H		No	ClinGen TOPMed
rs780036364 CA3030232	891	Q>L		No	ClinGen ExAC gnomAD
CA3030231 rs780036364	891	Q>R		No	ClinGen ExAC gnomAD
CA357783965 rs1560642205	894	E>K		No	ClinGen Ensembl
CA357783909 rs1181567747	901	S>F		No	ClinGen TOPMed
rs1011797931 CA102739547	902	T>M		No	ClinGen TOPMed gnomAD
CA3030228 rs778902842	902	T>P		No	ClinGen ExAC gnomAD
rs370187642 CA3030226	904	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs763937174 CA3030225	906	V>I		No	ClinGen ExAC TOPMed gnomAD
rs763937174 CA357783883	906	V>L		No	ClinGen ExAC TOPMed gnomAD
CA357783869 rs1407167443	908	R>K		No	ClinGen TOPMed
CA3030224 rs760438151	909	E>K		No	ClinGen ExAC gnomAD
rs372417750 CA3030222	911	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs114906626 CA102739513	914	T>N		No	ClinGen 1000Genomes
CA357783832 rs1175672420	914	T>P		No	ClinGen gnomAD
CA3030220 rs773660196	915	E>A		No	ClinGen ExAC gnomAD
rs377440200 CA3030221	915	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs770290223 CA3030219	917	L>R		No	ClinGen ExAC gnomAD
rs1382634743 CA357783809	918	Q>K		No	ClinGen TOPMed
CA357783776 rs1252182049	922	E>G		No	ClinGen gnomAD
rs1443563114 CA357783765	923	E>D		No	ClinGen TOPMed
rs762258803 CA3030218	924	V>L		No	ClinGen ExAC gnomAD
rs768975569 CA3030216	927	L>*		No	ClinGen ExAC gnomAD
CA102739506 rs1000050850	927	L>V		No	ClinGen TOPMed
rs557242436 CA3030213	932	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs747242840 CA3030214	932	D>N		No	ClinGen ExAC gnomAD
CA357783703 rs1263342667	933	D>G		No	ClinGen TOPMed
rs144716013 CA3030211	933	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA357783697 rs1395659079	934	L>V		No	ClinGen gnomAD
CA357783685 rs1314754494	936	Q>K		No	ClinGen gnomAD
CA357783677 rs1415490012	937	L>I		No	ClinGen gnomAD
CA357783672 rs1375941863	937	L>R		No	ClinGen gnomAD
CA357783661 rs1451597801	939	E>Q		No	ClinGen TOPMed gnomAD
rs1560641758 CA357783633	942	Q>H		No	ClinGen Ensembl
rs1183888904 CA357783629	943	I>T		No	ClinGen TOPMed
CA3030208 rs777753928	944	E>Q		No	ClinGen ExAC gnomAD
rs1159645436 CA357783599	947	Q>R		No	ClinGen TOPMed gnomAD
CA3030207 rs755953198	949	K>Q		No	ClinGen ExAC gnomAD
CA3030206 rs752352433	951	D>N		No	ClinGen ExAC gnomAD
CA357783573 rs752352433	951	D>Y		No	ClinGen ExAC gnomAD
rs1181616793 CA357783566	952	I>V		No	ClinGen TOPMed
rs1189389270 CA357783553	953	H>Q		No	ClinGen TOPMed gnomAD
CA3030205 rs201814347	954	D>N		No	ClinGen ExAC TOPMed gnomAD
rs201814347 CA3030204	954	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs768185659 CA102739408	955	T>I		No	ClinGen gnomAD
rs1405821117 CA357783540	956	V>I		No	ClinGen TOPMed
CA3030203 rs751093989	957	N>S		No	ClinGen ExAC gnomAD
CA357783525 rs1261675046	958	M>R		No	ClinGen gnomAD
CA3030189 rs771107150	960	I>M		No	ClinGen ExAC TOPMed gnomAD
CA357783489 rs558353104	961	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs558353104 CA3030188	961	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1402635425 CA357783480	963	Q>E		No	ClinGen TOPMed
rs777841784 CA357783471	964	E>K		No	ClinGen ExAC gnomAD
rs777841784 CA3030187	964	E>Q		No	ClinGen ExAC gnomAD
CA3030183 rs747980108	967	R>*		No	ClinGen ExAC gnomAD
CA3030184 rs747980108	967	R>G		No	ClinGen ExAC gnomAD
rs201196207 CA3030182	967	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754690682 CA3030181	969	A>V		No	ClinGen ExAC TOPMed gnomAD
CA3030180 rs373497894	970	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs566464276 CA3030179	971	E>A		No	ClinGen 1000Genomes ExAC gnomAD
rs181507974 CA3030178	972	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1293930981 CA357783414	973	L>R		No	ClinGen TOPMed
rs1165595414 CA357783417	973	L>V		No	ClinGen TOPMed gnomAD
CA357783388 rs1360457578	977	Q>*		No	ClinGen gnomAD
rs1490858784 CA357783381	978	E>K		No	ClinGen TOPMed
CA3030177 rs199530309	981	N>H		No	ClinGen ExAC TOPMed gnomAD
CA357783350 rs1578629024	982	T>K		No	ClinGen Ensembl
CA3030176 rs564058177	985	S>L		No	ClinGen ExAC TOPMed gnomAD
CA357783309 rs1255272838	988	S>F		No	ClinGen gnomAD
rs775942150 CA3030174	989	E>G		No	ClinGen ExAC gnomAD
CA102739278 rs980251133	990	E>V		No	ClinGen TOPMed
rs1449303239 CA357783287	992	S>P		No	ClinGen TOPMed
CA3030173 rs569161882	992	S>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1271169606 CA357783256	996	H>L		No	ClinGen gnomAD
rs759846707 CA3030172	997	M>I		No	ClinGen ExAC gnomAD
CA357783249 rs1387679767	997	M>T		No	ClinGen TOPMed
CA357783237 rs1422193495	999	E>K		No	ClinGen TOPMed
CA102739243 rs957684488	1002	G>E		No	ClinGen gnomAD
rs970107183 CA102739240	1003	E>D		No	ClinGen TOPMed gnomAD
CA3030171 rs774696021	1003	E>K		No	ClinGen ExAC gnomAD
rs1160017932 CA357783166	1009	Q>K		No	ClinGen TOPMed gnomAD
CA3030169 rs201479204	1009	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA357783155 rs1441384340	1010	Q>R		No	ClinGen gnomAD
CA3030144 rs150041862	1012	M>T		No	ClinGen ESP ExAC gnomAD
CA3030142 rs771731164	1015	I>V		No	ClinGen ExAC TOPMed gnomAD
rs745478241 CA3030141	1016	D>A		No	ClinGen ExAC TOPMed gnomAD
rs1004781454 CA102736848	1017	K>E		No	ClinGen Ensembl
CA102736839 rs756702879	1020	D>N		No	ClinGen ExAC TOPMed gnomAD
rs756702879 CA3030138	1020	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs753307774 CA3030137	1024	K>R		No	ClinGen ExAC gnomAD
rs943895802 CA102736828	1026	T>A		No	ClinGen TOPMed
CA357783030 rs1231113602	1026	T>I		No	ClinGen gnomAD
rs755920648 CA3030136	1027	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs867901645 CA102736823	1027	Q>L		No	ClinGen Ensembl
rs751987995 CA3030134	1030	T>I		No	ClinGen ExAC gnomAD
rs912396157 CA102736819	1031	A>V		No	ClinGen TOPMed gnomAD
CA357782998 rs1343952357	1032	D>G		No	ClinGen TOPMed gnomAD
CA3030132 rs368883720	1033	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1390238662 CA357782989	1034	K>Q		No	ClinGen gnomAD
rs1163017571 CA357782980	1035	D>N		No	ClinGen gnomAD
rs1013099682 CA102736810	1036	N>S		No	ClinGen Ensembl
rs766448463 CA3030130	1037	E>D		No	ClinGen ExAC gnomAD
rs1193127401 CA357782955	1038	I>K		No	ClinGen TOPMed gnomAD
rs1401153678 CA357782959	1038	I>L		No	ClinGen gnomAD
CA357782936 rs1240828929	1041	Q>E		No	ClinGen Ensembl
CA3030129 rs761793052	1043	R>K		No	ClinGen ExAC gnomAD
rs894160076 CA102736796	1044	K>R		No	ClinGen gnomAD
CA357782904 rs1447329284	1045	I>T		No	ClinGen gnomAD
CA102736777 rs951169430	1046	F>I		No	ClinGen TOPMed
rs1211422214 CA357782886	1048	L>S		No	ClinGen TOPMed gnomAD
CA357782880 rs1257299082	1049	I>V		No	ClinGen TOPMed
rs768489693 CA3030127	1050	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA102736759 rs768489693	1050	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA357782868 rs1215535820	1051	E>K		No	ClinGen TOPMed
CA357782844 rs375949295	1054	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs375949295 CA3030126	1054	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA357782807 rs1360435522	1058	M>I		No	ClinGen gnomAD
rs1272464570 CA357782806	1059	L>V		No	ClinGen gnomAD
rs1487582026 CA357782783	1062	V>I		No	ClinGen TOPMed
rs775291777 CA3030125	1063	I>M		No	ClinGen ExAC TOPMed gnomAD
CA102736755 rs973726069	1063	I>T		No	ClinGen TOPMed gnomAD
CA3030122 rs778420017	1071	T>A		No	ClinGen ExAC gnomAD
CA357782710 rs1408305941	1072	D>G		No	ClinGen gnomAD
CA3030121 rs770544669	1076	N>I		No	ClinGen ExAC gnomAD
CA3030119 rs150907416	1079	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3030102 rs543868735	1081	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs142291492 CA3030103	1081	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA357782601 rs1219725195	1086	E>K		No	ClinGen TOPMed
CA3030101 rs748924100	1091	G>E		No	ClinGen ExAC gnomAD
CA3030100 rs772628190	1092	D>G		No	ClinGen ExAC TOPMed gnomAD
CA3030099 rs186701809	1093	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747576604 CA3030098	1098	Q>E		No	ClinGen ExAC gnomAD
CA3030097 rs780702189	1098	Q>P		No	ClinGen ExAC gnomAD
CA3030096 rs758906989	1101	V>A		No	ClinGen ExAC TOPMed gnomAD
CA3030095 rs372322080	1102	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA102735829 rs79714157	1103	Q>K		No	ClinGen Ensembl
rs757447750 CA3030093	1104	E>G		No	ClinGen ExAC TOPMed gnomAD
rs754057484 CA3030092	1106	N>K		No	ClinGen ExAC gnomAD
CA3030091 rs764210933	1107	H>R		No	ClinGen ExAC gnomAD
CA357782456 rs1436558259	1107	H>Y		No	ClinGen TOPMed gnomAD
CA3030090 rs756178125	1108	A>T		No	ClinGen ExAC gnomAD
rs752700962 CA3030089	1109	I>V		No	ClinGen ExAC gnomAD
CA3030088 rs767449693	1111	K>E		No	ClinGen ExAC TOPMed gnomAD
CA102735798 rs907159207	1112	E>K		No	ClinGen TOPMed
rs182837136 CA102735791	1116	S>C		No	ClinGen 1000Genomes TOPMed gnomAD
rs766158140 CA3030084	1117	R>S		No	ClinGen ExAC TOPMed gnomAD
rs772984712 CA357782365	1121	R>G		No	ClinGen ExAC gnomAD
CA3030080 rs201169432	1122	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776221814 CA3030079	1123	A>E		No	ClinGen ExAC gnomAD
rs776221814 CA357782350	1123	A>V		No	ClinGen ExAC gnomAD
CA357782340 rs1401028845	1125	V>L		No	ClinGen TOPMed
CA357782319 rs1416541743	1128	K>E		No	ClinGen gnomAD
rs779181160 CA3030076	1132	K>T		No	ClinGen ExAC gnomAD
CA357782263 rs1380504935	1134	Q>K		No	ClinGen gnomAD
rs776309566 CA3030061	1136	L>P		No	ClinGen ExAC gnomAD
rs75617708 CA102734721	1137	Q>K		No	ClinGen Ensembl
rs768178743 CA3030060	1139	K>E		No	ClinGen ExAC gnomAD
CA357782203 rs1166404532	1142	Q>K		No	ClinGen gnomAD
rs140463887 CA3030058	1143	L>F		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs140463887 CA102734717	1143	L>I		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs374126277 CA3030056	1145	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA3030057 rs771271573	1145	N>S		No	ClinGen ExAC gnomAD
CA3030055 rs577893331	1146	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA102734703 rs879252410	1148	E>A		No	ClinGen Ensembl
CA357782166 rs1193410033	1148	E>K		No	ClinGen TOPMed gnomAD
rs377382813 CA102734688	1150	M>I		No	ClinGen ESP
CA3030052 rs748331834	1150	M>T		No	ClinGen ExAC TOPMed gnomAD
rs781289755 CA3030051	1155	K>T		No	ClinGen ExAC gnomAD
CA357782099 rs146191687	1156	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA3030050 rs146191687	1156	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA3030048 rs780044342	1160	I>M		No	ClinGen ExAC gnomAD
CA3030049 rs201550559	1160	I>T		No	ClinGen ExAC TOPMed gnomAD
CA357782063 rs1225142652	1161	E>D		No	ClinGen gnomAD
CA102734664 rs200251721	1162	N>S		No	ClinGen Ensembl
rs758208762 CA3030047	1164	K>N		No	ClinGen ExAC gnomAD
rs765081918 CA3030045	1165	N>K		No	ClinGen ExAC gnomAD
CA3030046 rs201637799	1165	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA357782005 rs199647753	1169	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1368283175 CA357782008	1169	N>S		No	ClinGen gnomAD
rs889053328 CA102734622	1170	K>E		No	ClinGen TOPMed
rs763566481 CA3030042	1176	H>Y		No	ClinGen ExAC TOPMed gnomAD
RCV000969476 rs35975325 CA3030041 RCV001819093	1177	M>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA357781950 rs1224789824	1177	M>R		No	ClinGen TOPMed
rs1463921256 CA357781919	1181	R>S		No	ClinGen gnomAD
CA357781911 rs771484911	1183	E>K		No	ClinGen ExAC TOPMed gnomAD
rs771484911 CA3030039	1183	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1311244695 CA357781901	1184	L>S		No	ClinGen TOPMed
CA3030038 rs763405199	1187	K>E		No	ClinGen ExAC gnomAD
rs1578612098 CA357781876	1188	L>I		No	ClinGen Ensembl
rs1199831553 CA357781871	1188	L>R		No	ClinGen gnomAD
rs1036102613 CA102734602	1190	E>D		No	ClinGen TOPMed gnomAD
rs1248422845 CA357781852	1191	N>S		No	ClinGen gnomAD
CA357781843 rs1252792884	1192	Y>C		No	ClinGen TOPMed
rs773599656 CA3030037	1194	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3030036 rs770112551	1197	S>Y		No	ClinGen ExAC gnomAD
rs1560631371 CA357781801	1198	I>M		No	ClinGen Ensembl
rs768692320 CA3030033	1198	I>T		No	ClinGen ExAC gnomAD
CA3030034 rs148223848	1198	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3030032 rs747123870	1199	T>I		No	ClinGen ExAC TOPMed gnomAD
CA357781766 rs1334811001	1203	K>N		No	ClinGen gnomAD
CA3030030 rs758391360	1206	K>R		No	ClinGen ExAC gnomAD
CA357781737 rs1371672276	1208	L>V		No	ClinGen gnomAD
rs947681657 CA102734537	1209	Q>E		No	ClinGen TOPMed
CA102734536 rs936497087	1209	Q>R		No	ClinGen TOPMed gnomAD
CA357781724 rs1312777157	1210	K>E		No	ClinGen gnomAD
rs1433459890 CA357781722	1210	K>T		No	ClinGen gnomAD
rs745764906 CA3030029	1211	S>L		No	ClinGen ExAC gnomAD
CA357781706 rs1391440162	1212	F>L		No	ClinGen TOPMed gnomAD
rs778897168 CA3030028	1212	F>S		No	ClinGen ExAC gnomAD
rs757102289 CA3030027	1214	T>S		No	ClinGen ExAC
CA3030026 rs753614807	1216	R>G		No	ClinGen ExAC gnomAD
CA102734529 rs200912709	1217	D>E		No	ClinGen Ensembl
rs1362300127 CA357781667	1218	H>R		No	ClinGen gnomAD
rs1039660211 CA102734521	1219	L>F		No	ClinGen Ensembl
rs1307858049 CA357781658	1220	R>G		No	ClinGen TOPMed
CA357781652 rs1184031029	1220	R>S		No	ClinGen gnomAD
CA102734516 rs770945082	1222	Y>C		No	ClinGen gnomAD
CA3030025 rs200674487	1222	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs374521225 CA357781636	1223	I>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374521225 CA3030024	1223	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA357781638 rs1210057646	1223	I>V		No	ClinGen gnomAD
rs752277529 CA3030023	1224	R>G		No	ClinGen ExAC gnomAD
rs910567068 CA102734498	1226	I>T		No	ClinGen Ensembl
rs766898987 CA3030022	1228	A>T		No	ClinGen ExAC gnomAD
rs777085680 CA3030000	1230	G>D		No	ClinGen ExAC gnomAD
rs1323048671 CA357781577	1231	L>I		No	ClinGen TOPMed gnomAD
rs745944494 CA3029995	1236	E>D		No	ClinGen ExAC TOPMed gnomAD
CA3029994 rs369033323	1239	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA357781522 rs369033323	1239	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA102734386 rs1025099941	1240	A>S		No	ClinGen Ensembl
CA357781512 rs1216546462	1240	A>V		No	ClinGen TOPMed
rs1463700259 CA357781507	1241	H>R		No	ClinGen TOPMed
rs1243982629 COSM3824870 CA357781509	1241	H>Y	breast [Cosmic]	No	ClinGen cosmic curated TOPMed
CA357781503 rs777665190	1242	I>F		No	ClinGen ExAC gnomAD
CA3029991 rs777665190	1242	I>V		No	ClinGen ExAC gnomAD
rs769454513 CA3029990	1243	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1386180413 CA357781481	1245	K>R		No	ClinGen TOPMed
rs1304903261 CA357781460	1248	Q>E		No	ClinGen TOPMed gnomAD
CA3029987 rs759805669	1249	E>A		No	ClinGen ExAC TOPMed gnomAD
CA3029986 RCV000502675 RCV000969475 rs114698062	1250	T>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs754274661 CA3029983	1251	I>M		No	ClinGen ExAC gnomAD
CA3029984 rs575313097	1251	I>V		No	ClinGen 1000Genomes ExAC
rs1342943127 CA357781427	1253	E>Q		No	ClinGen TOPMed
CA3029981 rs764573484	1257	S>N		No	ClinGen ExAC gnomAD
CA3029977 rs200458836	1258	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200458836 CA3029979	1258	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3029978 rs200458836	1258	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1283419208 CA357781361	1263	A>P		No	ClinGen TOPMed
CA102734333 rs372142636	1264	Q>E		No	ClinGen ESP TOPMed
CA3029975 rs771107306	1265	I>T		No	ClinGen ExAC gnomAD
CA3029974 rs762998446	1266	I>V		No	ClinGen ExAC gnomAD
CA3029973 rs368244019	1267	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000956241 CA3029972 rs79431579	1268	T>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3029971 rs138064215	1269	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1560630545 CA357781323	1269	Q>R		No	ClinGen Ensembl
CA3029970 rs780914564	1272	E>G		No	ClinGen ExAC gnomAD
CA3029969 rs746633332	1273	K>N		No	ClinGen ExAC TOPMed gnomAD
CA357781294 rs1208300892	1273	K>T		No	ClinGen TOPMed
rs868813495 CA102734314	1274	S>F		No	ClinGen Ensembl
CA3029967 rs779588591	1274	S>F		No	ClinGen ExAC gnomAD
rs1170202337 CA357781290	1274	S>T		No	ClinGen gnomAD
rs1462856477 CA357781270	1277	K>E		No	ClinGen TOPMed
CA357781238 rs1394302180	1281	E>Q		No	ClinGen gnomAD
rs1425460543 CA357781208	1283	P>L		No	ClinGen gnomAD
rs761768156 CA3029949	1286	H>P		No	ClinGen ExAC TOPMed gnomAD
rs761768156 CA102733591	1286	H>R		No	ClinGen ExAC TOPMed gnomAD
rs902658863 CA102733590	1287	E>K		No	ClinGen gnomAD
rs776450638 CA3029948	1290	E>G		No	ClinGen ExAC gnomAD
rs1471308008 CA357781164	1290	E>K		No	ClinGen TOPMed gnomAD
CA3029947 rs768416840	1291	L>S		No	ClinGen ExAC TOPMed gnomAD
rs1054702150 CA102733589	1291	L>V		No	ClinGen TOPMed
CA3029945 rs775115442	1293	P>L		No	ClinGen ExAC gnomAD
rs1312949660 CA357781133	1295	V>A		No	ClinGen gnomAD
CA3029944 rs771685356	1295	V>M		No	ClinGen ExAC TOPMed gnomAD
CA357781118 rs1188324918	1297	E>D		No	ClinGen TOPMed
rs745379960 CA3029943	1297	E>Q		No	ClinGen ExAC gnomAD
CA3029942 rs778441026	1298	V>D		No	ClinGen ExAC gnomAD
CA357781112 rs778441026	1298	V>G		No	ClinGen ExAC gnomAD
CA102733554 rs112251376	1299	S>G		No	ClinGen Ensembl
CA357781109 rs1289137800	1299	S>N		No	ClinGen gnomAD
rs748639367 CA3029940	1299	S>R		No	ClinGen ExAC TOPMed gnomAD
rs755382022 CA3029938	1300	E>D		No	ClinGen ExAC gnomAD
rs566313458 CA3029939	1300	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA102733553 rs866478189	1301	T>P		No	ClinGen Ensembl
CA3029937 rs751898156	1302	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA3029936 rs766515893	1302	Q>R		No	ClinGen ExAC gnomAD
CA102733539 rs116092630	1303	E>Q		No	ClinGen 1000Genomes
rs758590310 CA3029935	1304	T>A		No	ClinGen ExAC gnomAD
rs932166206 CA102733536	1304	T>R		No	ClinGen TOPMed gnomAD
CA3029934 rs750498079	1305	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1260520613 CA357781020	1313	E>K		No	ClinGen gnomAD
rs776536122 CA3029931	1315	S>P		No	ClinGen ExAC gnomAD
rs1044012369 CA102733516	1316	T>A		No	ClinGen TOPMed gnomAD
CA3029930 rs147007503	1321	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs760463719 CA3029929	1322	T>A		No	ClinGen ExAC gnomAD
rs946936541 CA357780955	1323	L>M		No	ClinGen TOPMed gnomAD
rs193249553 CA3029928	1324	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA102733508 rs370555065	1324	A>V		No	ClinGen ESP TOPMed
CA102733507 rs910911251	1328	M>I		No	ClinGen Ensembl
rs1397735644 CA357780900	1331	L>F		No	ClinGen TOPMed gnomAD
CA3029924 rs770456827	1334	N>D		No	ClinGen ExAC gnomAD
rs770456827 CA3029925	1334	N>H		No	ClinGen ExAC gnomAD
CA357780880 rs376206224	1334	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs376206224 CA3029923	1334	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs781763715 CA3029922	1338	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1460434413 CA357780850	1338	Q>R		No	ClinGen TOPMed gnomAD
CA3029921 rs755478080	1339	E>G		No	ClinGen ExAC gnomAD
rs755478080 CA357780842	1339	E>V		No	ClinGen ExAC gnomAD
rs922354005 CA102733451	1340	S>G		No	ClinGen TOPMed
rs775833531 CA102733447	1343	E>G		No	ClinGen Ensembl
CA357780803 rs1188535627	1344	I>M		No	ClinGen Ensembl
CA3029919 rs780425105	1345	K>I		No	ClinGen ExAC TOPMed gnomAD
CA3029920 rs114755616	1345	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3029917 rs548664264	1346	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA357780783 rs1578607697	1348	T>I		No	ClinGen Ensembl
CA102733413 rs757995609	1350	E>K		No	ClinGen TOPMed gnomAD
rs765291536 CA3029915	1351	R>T		No	ClinGen ExAC gnomAD
CA357780741 rs1248924215	1354	L>F		No	ClinGen gnomAD
CA3029914 rs186947885	1356	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1322322149 CA357780725	1357	I>V		No	ClinGen gnomAD
rs34711108 RCV000971504 CA3029910	1365	H>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3029911 rs752468903	1365	H>Y		No	ClinGen ExAC gnomAD
rs1387870712 CA357780651	1367	Q>P		No	ClinGen gnomAD
rs969930131 CA102733344	1368	L>P		No	ClinGen gnomAD
rs766388292 CA3029907	1371	H>L		No	ClinGen ExAC TOPMed gnomAD
rs770632861 CA3029906	1372	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1193177483 CA357780605	1374	E>Q		No	ClinGen gnomAD
CA3029904 rs762558075	1377	A>T		No	ClinGen ExAC gnomAD
CA3029888 rs751247562	1379	I>L		No	ClinGen ExAC gnomAD
rs762647642 CA3029886	1380	Q>R		No	ClinGen ExAC gnomAD
rs1342399268 CA357780546	1381	E>Q		No	ClinGen gnomAD
rs769404266 CA3029884	1382	S>T		No	ClinGen ExAC gnomAD
rs761143187 CA3029883	1384	S>T		No	ClinGen ExAC gnomAD
rs752681252 CA102730915	1388	Q>E		No	ClinGen Ensembl
rs1409554865 CA357780460	1392	M>I		No	ClinGen TOPMed
rs1412213685 CA357780466	1392	M>V		No	ClinGen gnomAD
rs767360104 CA102730913	1393	K>N		No	ClinGen TOPMed gnomAD
CA357780430 rs1413156391	1396	D>E		No	ClinGen gnomAD
CA3029882 rs776060720	1396	D>N		No	ClinGen ExAC gnomAD
CA357780424 rs1404833291	1397	N>S		No	ClinGen gnomAD
rs1404833291 CA357780425	1397	N>T		No	ClinGen gnomAD
CA357780408 rs1173322091	1399	T>S		No	ClinGen gnomAD
rs1373514175 CA357780405	1400	T>A		No	ClinGen TOPMed
rs568016910 CA3029881	1400	T>S		No	ClinGen ExAC TOPMed gnomAD
RCV000514886 rs35505100 CA3029880	1402	I>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3029879 rs377439303	1403	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA357780378 rs140975569	1404	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA3029878 rs140975569	1404	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA357780372 rs1249072956	1405	E>G		No	ClinGen TOPMed
CA357780374 rs1252502814	1405	E>Q		No	ClinGen gnomAD
CA357780370 rs1249072956	1405	E>V		No	ClinGen TOPMed
CA357780366 rs1186789525	1406	M>V		No	ClinGen TOPMed gnomAD
rs1440432920 CA357780356	1407	E>*		No	ClinGen gnomAD
rs1280489974 CA357780353	1407	E>V		No	ClinGen gnomAD
rs1200610260 CA357780331	1410	K>T		No	ClinGen gnomAD
CA357780297 rs1283754589	1415	A>P		No	ClinGen gnomAD
rs756176401 CA357780272	1419	I>K		No	ClinGen ExAC TOPMed gnomAD
rs756176401 CA3029875	1419	I>T		No	ClinGen ExAC TOPMed gnomAD
CA3029874 rs752648657	1421	I>T		No	ClinGen ExAC TOPMed gnomAD
rs754814687 CA3029872	1423	M>K		No	ClinGen ExAC TOPMed gnomAD
CA3029873 rs781194380	1423	M>V		No	ClinGen ExAC gnomAD
CA3029869 rs113334734	1425	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3029870 rs116330917	1425	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146862683 CA3029867	1429	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3029866 rs761390219	1432	E>K		No	ClinGen ExAC gnomAD
CA357780181 rs1471771035	1433	S>G		No	ClinGen gnomAD
rs1238982578 CA357780167	1434	H>Q		No	ClinGen gnomAD
CA102730777 rs112687930	1438	K>R		No	ClinGen TOPMed
rs1054094304 CA102730758	1439	S>Y		No	ClinGen TOPMed
rs775942647 CA3029865	1441	A>G		No	ClinGen ExAC TOPMed gnomAD
rs775942647 CA357780119	1441	A>V		No	ClinGen ExAC TOPMed gnomAD
CA102730750 rs111629506	1444	K>R		No	ClinGen Ensembl
rs768088621 CA3029864	1445	D>G		No	ClinGen ExAC gnomAD
CA3029863 rs759917441	1446	D>H		No	ClinGen ExAC gnomAD
rs1384373185 CA357780068	1449	R>G		No	ClinGen TOPMed
CA357780053 rs1294032575	1451	Q>P		No	ClinGen TOPMed
CA3029860 rs771266913	1452	E>K		No	ClinGen ExAC gnomAD
CA357780041 rs1326398710	1453	V>L		No	ClinGen TOPMed
rs1359148795 CA357780024	1455	Q>P		No	ClinGen gnomAD
CA357780010 rs1444860340	1457	E>A		No	ClinGen TOPMed gnomAD
rs1444860340 CA357780012	1457	E>G		No	ClinGen TOPMed gnomAD
rs143882724 CA3029857	1458	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA102730719 rs868678564	1460	Q>*		No	ClinGen Ensembl
rs1560626686 CA357779989	1460	Q>R		No	ClinGen Ensembl
CA102730716 rs867842440	1463	E>K		No	ClinGen Ensembl
rs1578604018 CA357779950	1465	I>M		No	ClinGen Ensembl
CA357779949 rs1196187898	1466	K>E		No	ClinGen TOPMed gnomAD
rs1349304112 CA357779934	1467	E>D		No	ClinGen gnomAD
rs747006489 CA3029832	1477	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA3029831 rs780140376	1479	L>R		No	ClinGen ExAC TOPMed gnomAD
RCV000904875 CA3029830 rs148056533	1480	K>E		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA357779839 rs148056533	1480	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3029828 rs565966442	1483	H>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs565966442 CA357779817	1483	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA357779796 rs1300358064	1486	L>V		No	ClinGen gnomAD
rs1212972148 CA357779776	1489	Q>K		No	ClinGen TOPMed
CA357779773 rs1259649052	1489	Q>P		No	ClinGen TOPMed
CA102730571 rs772741547	1491	E>A		No	ClinGen Ensembl
rs146172053 CA3029827	1495	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs777401279 CA3029825	1498	V>L		No	ClinGen ExAC gnomAD
rs752136849 CA3029823	1499	N>S		No	ClinGen ExAC TOPMed gnomAD
CA357779672 rs1309589035	1503	K>N		No	ClinGen gnomAD
CA3029822 rs766885349	1509	T>A		No	ClinGen ExAC gnomAD
rs766885349 CA357779636	1509	T>P		No	ClinGen ExAC gnomAD
rs1415824217 CA357779627	1510	I>T		No	ClinGen gnomAD
rs750821055 CA3029820	1513	Q>K		No	ClinGen ExAC gnomAD
CA3029819 rs372628159	1516	A>T		No	ClinGen ExAC TOPMed gnomAD
rs762151695 CA3029818	1516	A>V		No	ClinGen ExAC gnomAD
CA3029817 rs199596927	1518	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA102730522 rs537016202	1520	K>N		No	ClinGen Ensembl
CA3029816 rs768853172	1521	L>*		No	ClinGen ExAC gnomAD
CA357779553 rs1363591634	1521	L>V		No	ClinGen TOPMed
CA357779543 rs1483098449	1522	Q>R		No	ClinGen gnomAD
rs1311860576 CA357779537	1523	N>H		No	ClinGen Ensembl
CA3029815 rs760846809	1523	N>K		No	ClinGen ExAC gnomAD
CA3029800 rs750909159	1525	I>F		No	ClinGen ExAC gnomAD
CA102730315 rs921235054	1526	Q>P		No	ClinGen gnomAD
rs765697290 CA3029799	1534	Q>K		No	ClinGen ExAC gnomAD
VAR_049689 rs2615542 CA3029798	1535	F>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA357779419 rs1321107242	1537	I>T		No	ClinGen gnomAD
rs1454188228 CA357779407	1539	Q>E		No	ClinGen TOPMed
rs1187635971 CA357779396	1540	I>T		No	ClinGen TOPMed
rs1229860087 CA357779392	1541	S>G		No	ClinGen TOPMed gnomAD
rs764240810 CA3029796	1544	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA3029795 rs201825899	1545	E>D		No	ClinGen ExAC TOPMed gnomAD
CA357779364 rs1319407195	1545	E>K		No	ClinGen gnomAD
CA102730308 rs1038006972	1547	V>A		No	ClinGen TOPMed
CA357779341 rs1289006148	1548	N>I		No	ClinGen gnomAD
rs1348692259 CA357779324	1550	L>R		No	ClinGen gnomAD
rs200831788 CA3029791	1551	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA3029790 rs770836826	1556	H>R		No	ClinGen ExAC TOPMed gnomAD
CA3029789 rs749051815	1557	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3029788 rs552529056	1557	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA357779275 rs552529056	1557	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA357779262 rs1290539196	1559	A>D		No	ClinGen TOPMed
CA357779264 rs1435666945	1559	A>T		No	ClinGen TOPMed
rs1488098948 CA357779250	1561	D>H		No	ClinGen gnomAD
rs1488098948 CA357779251	1561	D>N		No	ClinGen gnomAD
rs747771400 CA3029783	1562	S>*		No	ClinGen ExAC gnomAD
rs754478140 CA3029781	1563	A>S		No	ClinGen ExAC gnomAD
rs779297603 CA3029779	1564	L>I		No	ClinGen ExAC gnomAD
rs115942458 CA102730192	1566	S>I		No	ClinGen 1000Genomes TOPMed
rs931445534 CA102730180	1567	I>T		No	ClinGen Ensembl
CA3029778 rs757728953	1568	E>G		No	ClinGen ExAC TOPMed gnomAD
CA357779207 rs1309233817	1568	E>Q		No	ClinGen gnomAD
rs754185050 CA3029777	1569	S>C		No	ClinGen ExAC gnomAD
CA102730157 rs777111000	1573	E>K		No	ClinGen TOPMed gnomAD
rs752952742 CA3029774	1574	L>F		No	ClinGen ExAC gnomAD
rs767774818 CA3029773	1575	T>A		No	ClinGen ExAC TOPMed gnomAD
CA3029772 rs759693779	1576	N>K		No	ClinGen ExAC TOPMed gnomAD
CA357779147 rs759693779	1576	N>K		No	ClinGen ExAC TOPMed gnomAD
CA357779146 rs1294655778	1577	R>G		No	ClinGen TOPMed gnomAD
CA3029769 rs766249732	1580	E>G		No	ClinGen ExAC TOPMed gnomAD
rs530167338 CA3029767	1581	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000962092 rs35100664 CA3029768 VAR_049690	1581	S>R		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs530167338 CA102730130	1581	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1416785589 CA357779112	1582	Q>E		No	ClinGen TOPMed
CA357779110 rs1490511631	1582	Q>P		No	ClinGen gnomAD
rs1156400102 CA357779104	1583	E>Q		No	ClinGen gnomAD
rs373703998 CA3029764	1586	Q>E		No	ClinGen ESP ExAC TOPMed
rs776267840 CA3029763	1586	Q>L		No	ClinGen ExAC gnomAD
rs768236981 CA3029762	1588	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1232095023 CA357779053	1590	K>E		No	ClinGen gnomAD
rs1232095023 CA357779054	1590	K>Q		No	ClinGen gnomAD
RCV001819092 RCV000969474 CA3029761 rs61756292	1592	K>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA357779005 rs1406077308	1596	K>E		No	ClinGen gnomAD
rs61751594 RCV000952897 CA3029758 RCV000500899	1597	R>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA357778981 rs1412021133	1599	Q>H		No	ClinGen TOPMed gnomAD
CA3029757 rs368406823	1599	Q>P		No	ClinGen ESP ExAC TOPMed
CA3029756 rs778339236	1601	A>V		No	ClinGen ExAC gnomAD
rs892936493 CA102730060	1602	L>F		No	ClinGen Ensembl
rs772288088 CA3029754	1604	I>V		No	ClinGen ExAC gnomAD
rs767867436 CA3029753	1607	D>H		No	ClinGen ExAC gnomAD
rs1177312787 CA357778924	1608	Q>E		No	ClinGen TOPMed gnomAD
CA3029751 rs146990718	1608	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3029750 rs766455293	1613	T>A		No	ClinGen ExAC gnomAD
CA357778887 rs1578601805	1613	T>N		No	ClinGen Ensembl
CA357778881 rs1185214186	1614	K>I		No	ClinGen TOPMed
rs762851859 CA3029749	1616	I>M		No	ClinGen ExAC TOPMed gnomAD
CA357778862 rs1490762245	1617	V>I		No	ClinGen TOPMed gnomAD
CA357778853 rs1578601762	1618	A>D		No	ClinGen Ensembl
CA357778847 rs1439280375 COSM1694758	1619	K>T	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA357778822 rs1464002662	1620	M>I		No	ClinGen gnomAD
rs185126789 CA3029725	1622	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1339175315 CA357778801	1623	S>F		No	ClinGen gnomAD
rs1414923821 CA357778788	1625	E>G		No	ClinGen TOPMed
rs1225965788 CA357778774	1627	E>K		No	ClinGen gnomAD
CA357778763 rs1243784499	1628	Y>F		No	ClinGen TOPMed
CA357778765 rs1243784499	1628	Y>S		No	ClinGen TOPMed
rs780058734 CA357778731	1632	K>N		No	ClinGen ExAC gnomAD
CA357778724 rs1203338329	1633	M>I		No	ClinGen TOPMed
CA3029723 rs758503908	1633	M>L		No	ClinGen ExAC TOPMed gnomAD
CA357778728 rs1352699048	1633	M>T		No	ClinGen TOPMed
CA102729874 rs758503908	1633	M>V		No	ClinGen ExAC TOPMed gnomAD
CA3029722 rs200961317	1634	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA102729859 rs1029224184	1637	N>K		No	ClinGen Ensembl
rs765178730 CA357778693	1638	E>D		No	ClinGen ExAC TOPMed gnomAD
CA357778698 rs1474356685	1638	E>Q		No	ClinGen TOPMed
CA357778682 rs1434655045	1640	Q>P		No	ClinGen gnomAD
CA357778661 rs1386541001	1643	M>L		No	ClinGen gnomAD
CA3029720 rs761694205	1643	M>R		No	ClinGen ExAC gnomAD
CA357778659 rs1386541001	1643	M>V		No	ClinGen gnomAD
CA3029719 rs753669839	1645	E>D		No	ClinGen ExAC gnomAD
CA3029718 rs116425040	1646	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3029717 rs760301872	1647	E>K		No	ClinGen ExAC TOPMed gnomAD
rs773533281 CA3029716	1648	H>L		No	ClinGen ExAC gnomAD
rs1578600402 CA357778595	1652	Q>E		No	ClinGen Ensembl
rs1245648614 CA357778562	1656	Q>L		No	ClinGen gnomAD
rs759100800 CA3029713	1659	N>H		No	ClinGen ExAC gnomAD
rs901748019 CA102729812	1660	L>P		No	ClinGen Ensembl
rs1208597950 CA357778527	1661	E>G		No	ClinGen gnomAD
rs1401040037 CA357778531	1661	E>K		No	ClinGen TOPMed gnomAD
rs1018780745 CA102729809	1662	N>D		No	ClinGen Ensembl
rs1316254520 CA357778519	1662	N>S		No	ClinGen TOPMed gnomAD
CA3029712 rs759932398 RCV000905709	1663	I>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1560624486 CA357778504	1664	E>D		No	ClinGen Ensembl
rs781248304 CA3029710	1665	T>M		No	ClinGen ExAC TOPMed gnomAD
CA3029708 rs138953137	1666	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747263590 CA3029706	1667	N>T		No	ClinGen ExAC gnomAD
CA3029705 rs780331185	1668	I>V		No	ClinGen ExAC gnomAD
CA102729801 rs565109242	1671	T>A		No	ClinGen 1000Genomes
CA357778457 rs1236661838	1672	Q>E		No	ClinGen TOPMed
CA357778449 rs1176599470	1673	I>V		No	ClinGen TOPMed gnomAD
rs114769117 RCV000928518 CA3029702	1675	H>R		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs757234402 CA3029701	1677	N>I		No	ClinGen ExAC gnomAD
rs114399328 CA3029700	1679	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs561288787 CA3029698	1680	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1197371839 CA357778389	1681	M>I		No	ClinGen gnomAD
CA357778386 rs1491000630	1682	R>K		No	ClinGen TOPMed gnomAD
rs752378891 CA3029697	1682	R>S		No	ClinGen ExAC gnomAD
rs1491000630 CA357778385	1682	R>T		No	ClinGen TOPMed gnomAD
rs200820864 CA3029695	1684	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA3029696 rs200820864	1684	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs370655189 CA3029693	1685	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA3029694 rs370655189	1685	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs928889935 CA102729775	1686	K>E		No	ClinGen gnomAD
CA357778357 rs1380216810	1687	E>G		No	ClinGen TOPMed
rs1275317274 CA357778360	1687	E>Q		No	ClinGen gnomAD
rs1045977368 CA102729772	1688	R>K		No	ClinGen gnomAD
CA102729768 rs1052681422	1692	R>G		No	ClinGen TOPMed gnomAD
CA357778324 rs1174924532	1692	R>K		No	ClinGen TOPMed
CA3029692 rs762472387	1692	R>S		No	ClinGen ExAC gnomAD
rs1373113891 CA357778312	1694	V>M		No	ClinGen TOPMed
rs1303498244 CA357778298	1696	E>K		No	ClinGen gnomAD
CA3029690 rs768980620	1698	L>F		No	ClinGen ExAC gnomAD
CA3029689 rs747420234	1698	L>R		No	ClinGen ExAC gnomAD
CA3029688 rs373862671	1699	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3029687 rs772375325	1701	E>K		No	ClinGen ExAC gnomAD
CA357778263 rs1423838692	1701	E>V		No	ClinGen gnomAD
rs556212008 CA3029685	1704	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
CA357778242 rs1270184411	1704	Q>R		No	ClinGen TOPMed gnomAD
rs749297644 CA3029683	1707	E>K		No	ClinGen ExAC TOPMed gnomAD
CA357778216 rs777778012	1708	N>D		No	ClinGen ExAC TOPMed gnomAD
CA3029682 rs777778012	1708	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA3029681 rs755958435	1710	R>G		No	ClinGen ExAC gnomAD
CA3029680 rs200926703	1710	R>T		No	ClinGen ExAC TOPMed gnomAD
CA3029679 rs767185502	1713	I>T		No	ClinGen ExAC TOPMed gnomAD
RCV000503136 CA102729728 rs921819934	1713	I>V		No	ClinGen ClinVar TOPMed dbSNP
rs74913564 CA3029678	1714	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA3029664 rs777677047	1716	D>E		No	ClinGen ExAC gnomAD
rs146277781 CA3029663	1721	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA357778102 rs1238095047	1723	L>P		No	ClinGen TOPMed
rs1347504237 CA357778100	1724	K>Q		No	ClinGen gnomAD
rs1489103562 CA357778081	1726	V>A		No	ClinGen TOPMed
CA357778074 rs1160509300	1727	H>P		No	ClinGen gnomAD
CA3029661 rs781102053	1728	M>V		No	ClinGen ExAC TOPMed gnomAD
rs924409014 CA102729188	1729	H>R		No	ClinGen TOPMed gnomAD
rs754820890 CA3029660	1734	Q>E		No	ClinGen ExAC gnomAD
CA3029659 rs755224642	1735	E>G		No	ClinGen ExAC gnomAD
rs201486474 CA3029658	1736	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs571233790 CA102729175	1736	T>I		No	ClinGen 1000Genomes TOPMed gnomAD
rs749987108 CA3029656	1737	I>T		No	ClinGen ExAC gnomAD
rs758081241 CA3029657	1737	I>V		No	ClinGen ExAC TOPMed gnomAD
CA357777981 rs1216424520	1741	R>K		No	ClinGen TOPMed gnomAD
rs764627096 CA3029655	1742	G>E		No	ClinGen ExAC gnomAD
rs1289407797 CA357777961	1744	V>D		No	ClinGen gnomAD
CA3029654 rs761298281	1745	S>P		No	ClinGen ExAC gnomAD
rs546621597 CA102729156	1750	E>V		No	ClinGen 1000Genomes
CA357777908 rs1383134398	1752	S>P		No	ClinGen gnomAD
rs775856723 CA357777889	1754	M>I		No	ClinGen ExAC TOPMed gnomAD
rs775856723 CA3029653	1754	M>I		No	ClinGen ExAC TOPMed gnomAD
CA357777894 rs1296184755	1754	M>V		No	ClinGen gnomAD
rs139854980 CA357777883	1755	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs139854980 CA3029652	1755	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3029651 rs759905554	1757	D>H		No	ClinGen ExAC gnomAD
rs774647586 CA3029650	1759	E>Q		No	ClinGen ExAC gnomAD
CA3029649 rs771175151	1760	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs763056863 CA3029648	1762	N>S		No	ClinGen ExAC TOPMed gnomAD
CA357777823 rs1389743575	1764	A>T		No	ClinGen gnomAD
rs1430325958 CA357777799	1767	A>G		No	ClinGen gnomAD
rs773390883 CA3029646	1767	A>S		No	ClinGen ExAC gnomAD
CA3029632 rs370980598	1769	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA357777769 rs1265427499	1770	L>M		No	ClinGen TOPMed
CA357777770 rs1265427499	1770	L>V		No	ClinGen TOPMed
rs1196897603 CA357777756	1772	I>L		No	ClinGen TOPMed gnomAD
rs559203786 CA3029629	1775	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs759997551 CA3029630	1775	E>G		No	ClinGen ExAC gnomAD
CA3029627 rs763295189	1778	I>S		No	ClinGen ExAC gnomAD
CA3029626 rs773304753	1779	A>S		No	ClinGen ExAC gnomAD
rs1220309099 CA357777692	1781	M>I		No	ClinGen TOPMed
CA357777693 rs547253244	1781	M>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3029625 rs547253244	1781	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776806995 CA3029623	1786	Q>R		No	ClinGen ExAC gnomAD
CA102728571 rs897911261	1788	E>G		No	ClinGen Ensembl
CA3029622 rs768750148	1789	T>A		No	ClinGen ExAC gnomAD
CA3029620 rs149140940	1790	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs746916598 CA3029621	1790	I>T		No	ClinGen ExAC gnomAD
rs1302518129 CA357777584	1797	V>F		No	ClinGen TOPMed gnomAD
CA3029617 rs145216792	1799	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1480757819 CA357777556	1801	T>K		No	ClinGen gnomAD
rs1006819896 CA102728535	1802	D>A		No	ClinGen Ensembl
CA3029615 rs753319219	1802	D>H		No	ClinGen ExAC gnomAD
CA357777546 rs1179447963	1803	K>E		No	ClinGen gnomAD
CA3029614 rs777235442	1805	S>L		No	ClinGen ExAC gnomAD
rs755527977 CA3029612	1807	M>T		No	ClinGen ExAC gnomAD
CA3029611 rs771854121	1809	K>N		No	ClinGen ExAC gnomAD
rs1264535287 CA357777457	1815	N>S		No	ClinGen TOPMed gnomAD
CA3029610 rs150429050	1817	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs914611034 CA102728239	1823	Q>E		No	ClinGen TOPMed
rs1385313732 CA357777366	1826	K>T		No	ClinGen gnomAD
CA3029593 rs755617920	1827	A>V		No	ClinGen ExAC gnomAD
CA3029592 rs747594018	1828	N>D		No	ClinGen ExAC gnomAD
rs780441299 CA3029591	1828	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1560620059 CA357777339	1830	H>R		No	ClinGen Ensembl
CA3029589 rs750787533	1831	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA3029590 rs758893437	1831	Q>K		No	ClinGen ExAC gnomAD
CA102728228 rs985322347	1833	I>T		No	ClinGen TOPMed gnomAD
CA3029588 rs765609389	1834	T>M		No	ClinGen ExAC gnomAD
rs754105885 CA3029586	1838	D>N		No	ClinGen ExAC TOPMed gnomAD
CA3029585 rs115069704	1840	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs896625885 CA102728217	1841	E>G		No	ClinGen TOPMed
CA3029584 rs760848979	1842	T>A		No	ClinGen ExAC gnomAD
rs543654462 CA3029583	1843	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA357777231 rs1560619904	1846	V>M		No	ClinGen Ensembl
CA357777224 rs1362071708	1847	S>Y		No	ClinGen gnomAD
rs1312323318 CA357777221	1848	E>K		No	ClinGen TOPMed
CA102728204 rs1035298333	1849	M>I		No	ClinGen TOPMed
CA357777170 rs1314904023	1854	K>N		No	ClinGen TOPMed
rs1214805862 RCV000501937 CA357777168	1855	Q>*		No	ClinGen ClinVar TOPMed dbSNP
CA357777167 rs1214805862	1855	Q>K		No	ClinGen TOPMed
CA357777105 rs1432778186	1863	L>P		No	ClinGen gnomAD
CA357777100 rs1341095369	1864	S>N		No	ClinGen TOPMed gnomAD
rs1302502108 CA357777093	1865	K>Q		No	ClinGen gnomAD
CA357777084 rs199800413	1866	L>*		No	ClinGen 1000Genomes TOPMed gnomAD
rs199800413 CA102728183	1866	L>S		No	ClinGen 1000Genomes TOPMed gnomAD
rs902216023 CA102728176	1868	I>M		No	ClinGen Ensembl
CA102728180 rs576435664	1868	I>T		No	ClinGen gnomAD
CA357777065 rs1323732827	1869	E>G		No	ClinGen gnomAD
CA102728173 rs373168914	1869	E>Q		No	ClinGen Ensembl
rs146843127 CA3029576	1870	N>D		No	ClinGen ESP ExAC gnomAD
CA357777028 rs1169185843	1874	A>G		No	ClinGen gnomAD
CA102728170 rs749416611	1876	K>Q		No	ClinGen Ensembl
CA3029574 rs769382137	1878	H>Q		No	ClinGen ExAC gnomAD
rs772858189 CA3029575	1878	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1197908152 CA357776981	1881	L>F		No	ClinGen gnomAD
rs568221313 CA3029573	1881	L>R		No	ClinGen ExAC gnomAD
CA102728161 rs561450875	1883	E>*		No	ClinGen Ensembl
rs780717615 CA3029572	1884	M>K		No	ClinGen ExAC gnomAD
CA3029571 rs758872865	1886	S>C		No	ClinGen ExAC
CA357776946 rs1457233512	1886	S>P		No	ClinGen gnomAD
CA3029570 rs746369226	1887	V>A		No	ClinGen ExAC gnomAD
rs1204080728 CA357776942	1887	V>I		No	ClinGen gnomAD
rs1215195096 CA357776933	1888	M>T		No	ClinGen gnomAD
rs1410445550 CA357776922	1889	K>N		No	ClinGen TOPMed
CA357776924 rs1322941209	1889	K>R		No	ClinGen gnomAD
rs375441496 CA3029569	1890	E>D		No	ClinGen ESP ExAC
CA102728152 rs1043390829	1890	E>G		No	ClinGen Ensembl
rs757698901 CA3029568	1891	R>G		No	ClinGen ExAC gnomAD
CA357776880 rs1347154291	1896	R>G		No	ClinGen gnomAD
CA3029565 rs564557749	1897	V>L		No	ClinGen 1000Genomes
rs564557749 CA357776872	1897	V>L		No	ClinGen 1000Genomes
CA3029564 rs764431916	1898	E>K		No	ClinGen ExAC gnomAD
CA357776856 rs1158921193	1899	E>A		No	ClinGen TOPMed
rs1560619404 CA357776861	1899	E>K		No	ClinGen Ensembl
CA3029562 rs546286554	1900	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA357776849 rs1465638131	1900	T>I		No	ClinGen gnomAD
CA357776838 rs1174904914	1902	K>R		No	ClinGen gnomAD
CA357776828 rs1481740270	1904	E>Q		No	ClinGen gnomAD
rs1177026083 CA357776821	1905	R>G		No	ClinGen gnomAD
rs752759161 CA3029561	1905	R>T		No	ClinGen ExAC gnomAD
rs767613874 CA3029560	1906	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA102728119 rs1037379834	1909	K>R		No	ClinGen TOPMed gnomAD
CA102728118 rs34593072	1910	E>G		No	ClinGen Ensembl
CA3029556 rs762752618	1911	S>R		No	ClinGen ExAC TOPMed gnomAD
CA3029557 VAR_059370 rs1381657	1911	S>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3029555 rs772945190	1913	Q>K		No	ClinGen ExAC gnomAD
CA357776755 rs1222941848	1914	E>D		No	ClinGen TOPMed
CA357776747 rs1370926096	1916	K>E		No	ClinGen gnomAD
CA357776742 rs1447156691	1916	K>N		No	ClinGen gnomAD
CA3029554 rs200695291	1916	K>T		No	ClinGen ExAC TOPMed gnomAD
rs761427800 CA3029553	1918	R>G		No	ClinGen ExAC gnomAD
CA357776713 rs1185849188	1919	D>V		No	ClinGen TOPMed gnomAD
CA357776718 rs1442305419	1919	D>Y		No	ClinGen TOPMed
rs1265026576 CA357776704	1921	E>K		No	ClinGen gnomAD
rs1358487428 CA357776692	1922	I>M		No	ClinGen gnomAD
rs140166382 CA3029529	1922	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA357776690 rs374410214	1923	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs374410214 CA3029528	1923	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs748395929 CA3029527	1924	Q>E		No	ClinGen ExAC
CA3029526 rs199840253	1924	Q>R		No	ClinGen ExAC TOPMed gnomAD
VAR_049691 CA3029524 COSM4158722 rs2306106	1925	E>D	thyroid [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1338675087 CA357776650	1929	A>S		No	ClinGen TOPMed
rs1578590190 CA357776647	1929	A>V		No	ClinGen Ensembl
CA3029523 rs780081164	1930	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3029522 RCV000972108 rs115310306	1930	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA357776637 rs1241572588	1931	M>I		No	ClinGen TOPMed
rs1336603446 CA357776639	1931	M>T		No	ClinGen TOPMed
rs750351958 CA3029521	1931	M>V		No	ClinGen ExAC TOPMed gnomAD
CA102727937 rs960773284	1932	L>Q		No	ClinGen Ensembl
rs1411510637 CA357776621	1934	K>T		No	ClinGen Ensembl
CA3029520 rs765088726	1936	H>R		No	ClinGen ExAC gnomAD
CA357776606 rs1328966519	1936	H>Y		No	ClinGen TOPMed
rs1404028743 CA357776599	1937	K>Q		No	ClinGen gnomAD
CA357776597 rs1364108545	1937	K>R		No	ClinGen gnomAD
rs1458659109 CA357776572	1941	D>N		No	ClinGen gnomAD
CA3029518 rs142037962	1943	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA357776549 rs1265617413	1944	R>T		No	ClinGen TOPMed
CA3029516 rs760211935	1947	I>F		No	ClinGen ExAC gnomAD
rs1034702496 CA102727906	1947	I>N		No	ClinGen TOPMed
CA3029515 rs760211935	1947	I>V		No	ClinGen ExAC gnomAD
rs767122734 CA3029513	1952	I>T		No	ClinGen ExAC TOPMed gnomAD
CA357776495 rs1266590220	1952	I>V		No	ClinGen gnomAD
rs763622080 CA3029512	1955	S>A		No	ClinGen ExAC gnomAD
rs1250235821 CA357776467	1955	S>L		No	ClinGen gnomAD
CA3029510 rs770369100	1956	D>G		No	ClinGen ExAC gnomAD
CA3029511 rs773860231	1956	D>H		No	ClinGen ExAC gnomAD
CA357776454 rs1319403775	1957	I>V		No	ClinGen TOPMed gnomAD
rs1578589894 CA357776438	1958	Q>R		No	ClinGen Ensembl
CA3029508 rs377706987	1960	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs143905625 CA102727878	1962	D>Y		No	ClinGen ESP TOPMed gnomAD
rs768965634 CA3029507	1963	K>R		No	ClinGen ExAC gnomAD
rs1178492581 CA357776364	1964	S>*		No	ClinGen TOPMed
CA357776353 rs1427116832	1965	K>T		No	ClinGen TOPMed
CA357776338 rs1172099309	1966	D>G		No	ClinGen TOPMed
rs1464557862 CA357776345	1966	D>N		No	ClinGen TOPMed
CA357776331 rs1296694284	1967	E>Q		No	ClinGen gnomAD
rs1020938513 CA102727874	1968	L>S		No	ClinGen TOPMed
CA102727810 rs948614032	1972	I>T		No	ClinGen TOPMed gnomAD
CA357776200 rs1459611309	1974	E>G		No	ClinGen gnomAD
CA3029484 rs775700364	1974	E>K		No	ClinGen ExAC gnomAD
CA357776181 rs1258807230	1976	Q>*		No	ClinGen gnomAD
rs1201530794 CA357776156	1978	K>Q		No	ClinGen gnomAD
CA3029483 rs772229993	1979	E>D		No	ClinGen ExAC gnomAD
CA357776131 rs1242551184	1980	L>F		No	ClinGen gnomAD
rs1242551184 CA357776133	1980	L>I		No	ClinGen gnomAD
rs745976679 CA3029482	1980	L>P		No	ClinGen ExAC gnomAD
rs1187036248 CA357776069	1986	K>E		No	ClinGen TOPMed
CA357776050 rs1263772970	1987	E>A		No	ClinGen TOPMed
rs777690114 CA3029478	1987	E>K		No	ClinGen ExAC gnomAD
rs1186783902 CA357776035	1988	D>V		No	ClinGen TOPMed
CA3029476 rs752483061	1988	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA3029475 rs781015188	1989	V>F		No	ClinGen ExAC gnomAD
CA357776018 rs1560617841	1990	N>D		No	ClinGen Ensembl
CA3029474 rs115803222	1991	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA357775978 rs1442163481	1993	H>Y		No	ClinGen gnomAD
rs751158171 CA357775946	1995	K>I		No	ClinGen ExAC TOPMed gnomAD
rs751158171 CA3029473	1995	K>R		No	ClinGen ExAC TOPMed gnomAD
CA357775919 rs762444293	1997	N>I		No	ClinGen ExAC TOPMed gnomAD
rs762444293 CA3029470	1997	N>T		No	ClinGen ExAC TOPMed gnomAD
CA3029468 rs369415552	1999	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA102727766 rs945594928	2003	K>E		No	ClinGen TOPMed
rs377335833 CA3029467	2008	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA3029466 rs775788686	2009	Q>H		No	ClinGen ExAC gnomAD
CA102727754 rs989730171	2012	S>C		No	ClinGen Ensembl
rs1020569297 CA102727760	2012	S>P		No	ClinGen TOPMed gnomAD
rs371002151 CA3029465	2013	M>V		No	ClinGen ExAC gnomAD
rs759730017 CA3029464	2014	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA102727749 rs976392355	2015	S>G		No	ClinGen Ensembl
rs989476562 CA102727746	2015	S>R		No	ClinGen TOPMed
CA3029462 rs774545979	2018	M>V		No	ClinGen ExAC TOPMed
CA102727739 rs1015358183	2019	D>A		No	ClinGen Ensembl
rs1033161789 CA102727742	2019	D>Y		No	ClinGen TOPMed
rs1360940033 CA357775558	2020	N>D		No	ClinGen gnomAD
rs1422420982 CA357775545	2021	F>L		No	ClinGen gnomAD
rs1004349516 CA102727732	2024	T>A		No	ClinGen gnomAD
CA3029460 rs553614605	2024	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1004349516 CA357775529	2024	T>S		No	ClinGen gnomAD
rs777585361 CA3029459	2026	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1268698099 CA357775501	2028	H>L		No	ClinGen gnomAD
rs1478350784 CA357775504	2028	H>N		No	ClinGen gnomAD
CA3029457 rs747989592	2029	E>A		No	ClinGen ExAC TOPMed gnomAD
CA357775479 rs1560617621	2031	L>F		No	ClinGen Ensembl
CA357775430 rs1290902352	2038	A>S		No	ClinGen gnomAD
rs139594258 CA3029455	2039	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA357775391 rs1183811356	2041	R>I		No	ClinGen TOPMed
rs535622641 CA3029453	2042	D>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3029452 rs779686223	2042	D>E		No	ClinGen ExAC TOPMed gnomAD
rs147395562 CA102727711	2045	R>K		No	ClinGen ESP TOPMed gnomAD
rs749049143 CA102727710	2047	I>L		No	ClinGen Ensembl
CA3029450 rs777590862	2047	I>M		No	ClinGen ExAC TOPMed gnomAD
CA102727700 rs939346084	2049	E>Q		No	ClinGen Ensembl
CA357775290 rs1456091180	2050	S>A		No	ClinGen TOPMed
rs764537289 CA3029449	2053	M>L		No	ClinGen ExAC gnomAD
CA357775183 rs1397505619	2058	F>L		No	ClinGen TOPMed gnomAD
CA357775166 rs1173439068	2060	A>T		No	ClinGen gnomAD
CA3029447 rs753107680	2061	T>A		No	ClinGen ExAC TOPMed gnomAD
rs767852909 CA3029446	2061	T>I		No	ClinGen ExAC gnomAD
CA3029443 rs771127246	2065	M>R		No	ClinGen ExAC gnomAD
rs754628122 CA3029442	2066	I>M		No	ClinGen ExAC TOPMed gnomAD
CA3029441 rs373021445	2067	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3736542 CA3029440 RCV001310494 rs148969710 RCV001820004	2068	R>T	skin [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3029425 rs764908779	2069	D>G		No	ClinGen ExAC TOPMed gnomAD
rs759405697 CA3029424	2070	R>*		No	ClinGen ExAC TOPMed gnomAD
CA3029423 rs372305495	2070	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3029422 rs766430051	2071	Q>R		No	ClinGen ExAC gnomAD
CA3029421 rs760767043	2072	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1434398766 CA357774943	2073	H>N		No	ClinGen TOPMed
CA357774932 rs1450896756	2073	H>Q		No	ClinGen gnomAD
rs115439484 CA3029420	2076	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA357774889 rs1173441563	2077	P>R		No	ClinGen TOPMed
rs368889294 CA3029419	2077	P>S		No	ClinGen ESP ExAC gnomAD
CA3029418 rs748291465	2079	K>E		No	ClinGen ExAC TOPMed gnomAD
CA357774858 rs1430126859	2080	R>M		No	ClinGen TOPMed
rs913048131 CA102727212	2081	L>*		No	ClinGen Ensembl
CA357774801 rs1411800714	2085	G>E		No	ClinGen gnomAD
rs749678928 CA3029415	2085	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1484218470 CA357774781	2087	Q>K		No	ClinGen gnomAD
CA357774746 rs1214750339	2090	T>A		No	ClinGen gnomAD
CA357774742 rs2243682	2090	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3029413 rs2243682 VAR_049692	2090	T>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs746432955 CA3029411	2092	S>N		No	ClinGen ExAC TOPMed gnomAD
CA357774719 rs746432955	2092	S>T		No	ClinGen ExAC TOPMed gnomAD
CA3029410 rs777242024	2097	C>S		No	ClinGen ExAC gnomAD
CA3029409 rs757942068	2097	C>Y		No	ClinGen ExAC gnomAD
rs1288822676 CA357774657	2098	S>P		No	ClinGen gnomAD
rs752250345 CA3029407	2098	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA102727177 rs544414632	2099	R>K		No	ClinGen 1000Genomes
CA357774628 rs1482316655	2100	I>M		No	ClinGen TOPMed
rs779968105 CA3029384	2102	E>Q		No	ClinGen ExAC gnomAD
rs756008212 CA3029383	2103	L>I		No	ClinGen ExAC gnomAD
CA357774166 rs1256933713	2106	R>S		No	ClinGen TOPMed gnomAD
rs1295195360 CA357774157	2107	Y>C		No	ClinGen TOPMed
CA357774120 rs767578658	2110	M>I		No	ClinGen ExAC TOPMed gnomAD
CA3029381 rs767578658	2110	M>I		No	ClinGen ExAC TOPMed gnomAD
rs948456467 CA357774123	2110	M>R		No	ClinGen TOPMed
CA102726270 rs948456467	2110	M>T		No	ClinGen TOPMed
CA3029380 rs761734040	2111	D>G		No	ClinGen ExAC TOPMed gnomAD
rs751656386 CA3029379	2112	D>E		No	ClinGen ExAC gnomAD
CA357774100 rs1447101368	2112	D>G		No	ClinGen Ensembl
rs917305726 CA102726255	2113	H>Y		No	ClinGen Ensembl
rs764138737 CA357774071	2114	Y>*		No	ClinGen ExAC gnomAD
CA357774076 rs1420646955	2114	Y>S		No	ClinGen gnomAD
rs1486278073 CA357774061	2115	E>G		No	ClinGen TOPMed
rs1372669961 CA357774015	2118	N>K		No	ClinGen gnomAD
CA3029375 rs367908070	2119	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1449135636 CA357773974	2122	L>R		No	ClinGen gnomAD
CA357773964 rs1402313739	2123	D>A		No	ClinGen TOPMed gnomAD
rs759915667 CA3029374	2123	D>E		No	ClinGen ExAC gnomAD
rs961277319 CA102726216	2126	K>E		No	ClinGen TOPMed
CA3029372 rs771470757	2126	K>R		No	ClinGen ExAC gnomAD
rs1159320779 CA357773926	2128	I>T		No	ClinGen TOPMed
rs924177573 CA102726203	2129	E>K		No	ClinGen TOPMed
CA357773889 rs1433460375	2133	E>Q		No	ClinGen TOPMed gnomAD
rs778469656 CA3029370	2134	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1375905173 CA357773878	2134	L>R		No	ClinGen TOPMed
rs200997499 CA3029367 COSM3824856	2136	M>I	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC
rs748913591 CA3029368	2136	M>L		No	ClinGen ExAC gnomAD
CA357773868 rs1235439572	2136	M>R		No	ClinGen gnomAD
rs748913591 CA3029369	2136	M>V		No	ClinGen ExAC gnomAD
rs374711881 CA102726166	2137	R>S		No	ClinGen ESP TOPMed
rs1458723904 CA357773862	2137	R>T		No	ClinGen TOPMed gnomAD
rs1311004014 CA357773829	2142	L>F		No	ClinGen TOPMed
rs1200451959 CA357773809	2145	P>L		No	ClinGen gnomAD
CA3029366 rs202048854	2145	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3029364 rs141813170	2146	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3029363 rs757207028	2147	L>S		No	ClinGen ExAC gnomAD
CA3029362 rs751501263	2149	T>S		No	ClinGen ExAC gnomAD
CA3029360 rs762974922	2151	H>L		No	ClinGen ExAC gnomAD
CA3029361 rs762974922	2151	H>R		No	ClinGen ExAC gnomAD
rs1007390596 CA102726127	2152	I>F		No	ClinGen TOPMed
rs376213175 CA357773765	2152	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs376213175 CA3029359	2152	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1331951908 CA357773746	2155	L>V		No	ClinGen gnomAD
rs1395444788 CA357773722	2158	A>V		No	ClinGen TOPMed gnomAD
CA357773695 rs1304413794	2162	C>Y		No	ClinGen gnomAD
CA3029357 rs759827260	2163	S>F		No	ClinGen ExAC gnomAD
rs776972153 CA3029356	2164	M>V		No	ClinGen ExAC TOPMed
rs1440993197 CA357773663	2166	F>L		No	ClinGen gnomAD
rs766708081 CA3029355	2166	F>S		No	ClinGen ExAC gnomAD
CA357773639 rs1196697128	2170	M>V		No	ClinGen TOPMed gnomAD
rs773627455 CA357773603	2174	K>N		No	ClinGen ExAC gnomAD
rs1187428870 CA357773606	2174	K>R		No	ClinGen gnomAD
CA357773581 rs932030413	2176	V>L		No	ClinGen Ensembl
CA102724637 rs932030413	2176	V>M		No	ClinGen Ensembl
rs1358566330 CA357773558	2179	Y>C		No	ClinGen TOPMed gnomAD
rs754052289 CA3029338	2180	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1266837580 CA357773542	2182	K>E		No	ClinGen TOPMed
rs766730981 CA3029337	2183	I>M		No	ClinGen ExAC TOPMed gnomAD
CA357773531 rs1233884541	2183	I>T		No	ClinGen gnomAD
rs760973249 CA3029336	2186	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs767917355 CA3029333	2188	H>R		No	ClinGen ExAC TOPMed gnomAD
rs773715703 CA3029334	2188	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs762480332 CA3029332	2189	E>D		No	ClinGen ExAC TOPMed gnomAD
CA102724588 rs1049660	2190	S>C		No	ClinGen Ensembl
CA357773464 rs111280115	2191	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs114550642 CA3029330	2191	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs111280115 CA3029331	2191	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1172974375 CA357773454	2192	N>H		No	ClinGen gnomAD
rs776179883 CA3029328	2199	I>F		No	ClinGen ExAC gnomAD
rs572676595 CA3029327	2199	I>N		No	ClinGen 1000Genomes ExAC TOPMed
CA102724573 rs572676595	2199	I>T		No	ClinGen 1000Genomes ExAC TOPMed
CA3029326 rs746793219	2200	D>G		No	ClinGen ExAC gnomAD
CA357773345 rs746793219	2200	D>V		No	ClinGen ExAC gnomAD
CA3029325 rs777697926	2202	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1162570494 CA357773089	2203	E>V		No	ClinGen gnomAD
CA357773060 rs1337877155	2207	E>K		No	ClinGen TOPMed
rs1214209186 CA357773023	2212	I>T		No	ClinGen gnomAD
CA102724559 rs755086890	2214	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA357773008 rs1578576538	2214	H>R		No	ClinGen Ensembl
rs1323335193 CA357772987	2217	Q>P		No	ClinGen TOPMed
rs370305376 CA102724538	2220	D>G		No	ClinGen TOPMed
CA3029319 rs758391209	2221	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1339841078 CA357772960	2221	V>I		No	ClinGen gnomAD
rs554214225 CA3029318	2222	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA357772948 rs1444660452	2223	S>A		No	ClinGen gnomAD
CA357772920 rs1332298182	2227	R>K		No	ClinGen gnomAD
rs750752491 CA3029317	2227	R>S		No	ClinGen ExAC TOPMed gnomAD
CA3029315 rs148946825	2230	K>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA3029316 rs148946825	2230	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA357772890 rs1173461991	2231	L>F		No	ClinGen gnomAD
CA3029313 rs187544794	2236	D>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1233441617 CA357772841	2238	H>R		No	ClinGen gnomAD
rs376146367 CA3029312	2238	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1425963409 CA357772833	2239	I>T		No	ClinGen TOPMed
rs1216628275 CA357772803	2241	E>D		No	ClinGen TOPMed
rs966382848 CA102724055	2243	L>R		No	ClinGen Ensembl
CA3029297 rs750708896	2248	E>G		No	ClinGen ExAC TOPMed gnomAD
CA3029296 rs781668367	2249	S>N		No	ClinGen ExAC
CA3029295 rs757727772	2252	P>R		No	ClinGen ExAC gnomAD
rs1047573811 CA102724037	2254	I>V		No	ClinGen TOPMed
CA357772710 rs1386320081	2255	K>E		No	ClinGen TOPMed
CA357772702 rs1446959214	2256	T>P		No	ClinGen TOPMed
CA102724033 rs914906542	2257	E>D		No	ClinGen Ensembl
CA3029294 rs752063990	2260	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1385193221 CA357772665	2261	V>I		No	ClinGen TOPMed
CA3029293 rs373471210	2264	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA3029291 rs369699262	2266	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA3029289 rs760219934	2267	E>*		No	ClinGen ExAC gnomAD
rs1443942684 CA357772609	2269	T>A		No	ClinGen gnomAD
CA357772595 rs1337136713	2271	F>I		No	ClinGen TOPMed
rs138882212 CA3029287	2273	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA3029285 rs761614204	2274	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3029286 rs761614204	2274	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA3029284 rs774210778	2275	W>C		No	ClinGen ExAC TOPMed gnomAD
rs1310863393 CA357772563	2275	W>L		No	ClinGen gnomAD
rs768578806 CA3029283	2277	N>H		No	ClinGen ExAC TOPMed gnomAD
rs749308886 CA3029282	2277	N>K		No	ClinGen ExAC TOPMed gnomAD
CA102723970 rs544326830	2279	R>C		No	ClinGen TOPMed gnomAD
CA3029281 rs779977129	2279	R>H		No	ClinGen ExAC TOPMed gnomAD
CA3029280 rs769958209	2280	F>S		No	ClinGen ExAC gnomAD
CA102723953 rs965220937	2282	I>L		No	ClinGen Ensembl
CA3029279 rs746037179	2282	I>T		No	ClinGen ExAC gnomAD
CA102723927 rs1004122817	2283	E>G		No	ClinGen Ensembl
CA102723935 rs1015546978	2283	E>Q		No	ClinGen Ensembl
CA3029278 rs781587518	2284	K>N		No	ClinGen ExAC gnomAD
CA3029277 rs757637588	2286	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1423345331 CA357772475	2289	I>L		No	ClinGen TOPMed gnomAD
rs1412906912 CA357772473	2289	I>T		No	ClinGen TOPMed gnomAD
rs950274217 CA102723898	2294	D>V		No	ClinGen TOPMed
rs1049101180 CA102723893	2295	R>G		No	ClinGen TOPMed gnomAD
CA3029274 rs758817427	2295	R>K		No	ClinGen ExAC gnomAD
CA357772416 rs1287739303	2297	C>Y		No	ClinGen gnomAD
rs1215805035 CA357772406	2298	Q>R		No	ClinGen gnomAD
CA357772403 rs1288349290	2299	V>M		No	ClinGen gnomAD
rs141354341 CA249104 RCV000202908	2303	F>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1467990493 CA357772342	2307	I>V		No	ClinGen TOPMed
CA3029258 rs747290658	2309	A>T		No	ClinGen ExAC gnomAD
CA3029257 RCV001818693 RCV000893908 rs111281600	2310	I>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA102716455 rs758298907	2311	M>T		No	ClinGen Ensembl
rs758835317 CA3029256	2312	N>T		No	ClinGen ExAC gnomAD
rs1386469641 CA357771959	2313	E>Q		No	ClinGen gnomAD
CA357771936 rs1365537000	2316	E>V		No	ClinGen gnomAD
rs748559290 CA3029255	2318	E>K		No	ClinGen ExAC TOPMed gnomAD
CA357771917 rs1441764384	2319	E>K		No	ClinGen gnomAD
CA3029254 rs779493574	2322	A>T		No	ClinGen ExAC TOPMed gnomAD
CA357771880 rs1239691399	2324	I>T		No	ClinGen TOPMed
rs755515319 CA3029253	2324	I>V		No	ClinGen ExAC gnomAD
CA3029252 rs749934583	2325	S>A		No	ClinGen ExAC TOPMed gnomAD
CA3029251 rs61751592 RCV000442078	2325	S>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs373965211 CA3029250	2329	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA357771827 rs1462026475	2331	D>E		No	ClinGen TOPMed
CA357771824 rs1468549502	2332	L>V		No	ClinGen gnomAD
rs201826180 CA3029247	2334	S>P		No	ClinGen ExAC TOPMed gnomAD
rs762829111 CA3029246	2335	L>M		No	ClinGen ExAC TOPMed gnomAD
CA357771802 rs1233024384	2336	K>E		No	ClinGen gnomAD
CA357771771 rs1310612695	2340	E>K		No	ClinGen gnomAD
rs765224508 CA3029244	2341	K>E		No	ClinGen ExAC gnomAD
CA357771755 rs1235020568	2342	L>V		No	ClinGen gnomAD
CA357771730 rs1042931771	2345	N>K		No	ClinGen gnomAD
CA3029242 rs776836410	2345	N>Y		No	ClinGen ExAC TOPMed gnomAD
rs771182826 CA3029241	2346	Y>F		No	ClinGen ExAC gnomAD
CA3029240 rs747200493	2350	K>N		No	ClinGen ExAC gnomAD
CA357771691 rs1357015790	2351	T>S		No	ClinGen gnomAD
CA357771670 rs1454331028	2354	A>V		No	ClinGen gnomAD
CA102716347 rs910502686	2356	G>D		No	ClinGen Ensembl
rs560971961 CA357771646	2357	A>G		No	ClinGen 1000Genomes ExAC gnomAD
CA3029237 rs748556175	2357	A>T		No	ClinGen ExAC TOPMed gnomAD
CA3029236 rs560971961	2357	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA357771600 rs1300798523	2361	P>H		No	ClinGen TOPMed
rs1200178825 CA357771554	2365	D>E		No	ClinGen TOPMed gnomAD
CA3029235 rs755467042	2365	D>H		No	ClinGen ExAC gnomAD
rs1482481895 CA357771549	2366	N>D		No	ClinGen gnomAD
rs1482481895 CA357771547	2366	N>H		No	ClinGen gnomAD
CA3029234 rs542680383	2366	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs780652836 CA3029233	2369	P>L		No	ClinGen ExAC gnomAD
rs1307231175 CA357771499	2370	H>R		No	ClinGen gnomAD
rs575684608 CA3029232	2370	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA3029231 rs751164754	2374	R>T		No	ClinGen ExAC gnomAD
rs1337414118 CA357771450	2375	A>P		No	ClinGen TOPMed gnomAD
rs1337414118 CA357771448	2375	A>T		No	ClinGen TOPMed gnomAD
CA3029230 rs777495974	2376	T>A		No	ClinGen ExAC gnomAD
rs370826901 CA3029229	2376	T>R		No	ClinGen ESP ExAC gnomAD
CA357771400 rs1314319253	2379	T>I		No	ClinGen TOPMed gnomAD
CA357771402 rs1314319253	2379	T>N		No	ClinGen TOPMed gnomAD
rs1226699591 CA357771397	2380	T>A		No	ClinGen TOPMed
CA3029227 rs764997278	2380	T>I		No	ClinGen ExAC gnomAD
rs1281893079 CA357770989	2383	I>T		No	ClinGen TOPMed
CA102714476 rs267599968	2384	R>*		No	ClinGen Ensembl
CA3029208 rs146344166	2384	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA3029207 rs754847768	2385	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1195686700 CA357770937	2391	H>Q		No	ClinGen TOPMed gnomAD
rs371381915 CA3029206	2391	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA357770936 rs1447644216	2392	E>K		No	ClinGen gnomAD
CA357770931 rs1486722845	2392	E>V		No	ClinGen TOPMed
rs547884725 CA3029205	2393	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA357770893 rs1274989545	2398	M>V		No	ClinGen gnomAD
CA357770879 rs1317138221	2399	H>Q		No	ClinGen gnomAD
CA3029202 rs767545104	2399	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs762068581 CA3029201	2401	E>G		No	ClinGen ExAC TOPMed gnomAD
CA3029200 rs774472049	2402	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1322266057 CA357770849	2403	K>N		No	ClinGen gnomAD
rs763321921 CA3029198	2405	I>T		No	ClinGen ExAC gnomAD
rs775911053 CA3029197	2406	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1578550406 CA357770824	2407	M>T		No	ClinGen Ensembl
RCV000351907 RCV000883171 rs140630684 CA3029196	2408	Q>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1422004810 CA357770816	2408	Q>R		No	ClinGen gnomAD
CA102714335 rs150927257	2409	K>T		No	ClinGen ESP
rs376177177 CA3029195	2410	E>G		No	ClinGen ESP ExAC gnomAD
rs1475888723 CA357770796	2411	L>F		No	ClinGen gnomAD
rs777312973 CA3029194	2411	L>P		No	ClinGen ExAC TOPMed gnomAD
CA3029193 rs373447747	2412	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA3029190 rs754757852	2416	D>N		No	ClinGen ExAC gnomAD
rs749096564 CA3029189	2418	I>T		No	ClinGen ExAC gnomAD
rs1335913673 CA357770743	2419	A>E		No	ClinGen TOPMed
rs1262537320 CA357770724	2422	Q>E		No	ClinGen gnomAD
CA3029188 rs780055869	2423	A>T		No	ClinGen ExAC TOPMed gnomAD
CA357770708 rs1216138999	2424	K>R		No	ClinGen gnomAD
rs756058425 CA3029187	2426	H>R		No	ClinGen ExAC gnomAD
CA357770686 rs1273896733	2427	E>D		No	ClinGen gnomAD
CA3029185 rs188632818	2430	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757307598 CA3029184	2431	C>F		No	ClinGen ExAC gnomAD
CA3029183 rs142518565	2432	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3029182 rs764306851	2432	L>H		No	ClinGen ExAC gnomAD
CA357770635 rs1225658267	2435	T>A		No	ClinGen gnomAD
rs1410891804 CA357770632	2435	T>K		No	ClinGen gnomAD
CA357770636 rs1225658267	2435	T>P		No	ClinGen gnomAD
rs1455629602 CA357770613	2438	T>A		No	ClinGen gnomAD
rs1282319534 CA357770609	2438	T>I		No	ClinGen TOPMed
CA357770607 rs1338939068	2439	I>V		No	ClinGen TOPMed gnomAD
rs765636963 CA3029179	2440	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA357770593 rs1438960637	2441	V>L		No	ClinGen gnomAD
rs115120218 CA3029177	2443	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs948995140 CA102712094	2444	D>G		No	ClinGen TOPMed
CA3029154 rs566654336	2445	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA357770353 rs1314684342	2448	L>F		No	ClinGen gnomAD
CA3029152 rs199627155	2451	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs139511383 CA3029150	2452	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777134934 CA3029151	2452	P>T		No	ClinGen ExAC gnomAD
rs147381103 CA3029148	2453	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA357770249 rs1175466813	2453	Y>N		No	ClinGen TOPMed
rs768323525 CA3029147	2454	K>E		No	ClinGen ExAC gnomAD
rs1560593375 CA440534247	2454	K>M		No	ClinGen Ensembl
CA3029146 rs748913490	2454	K>T		No	ClinGen ExAC
CA3029145 rs200563504	2457	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA102712054 rs1044284234	2460	L>R		No	ClinGen Ensembl
rs1162471401 CA357770034	2461	K>I		No	ClinGen TOPMed gnomAD
rs745655266 CA3029143	2461	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA357770037 rs1162471401	2461	K>R		No	ClinGen TOPMed gnomAD
CA357770000 rs956251098	2462	M>I		No	ClinGen TOPMed gnomAD
CA102712049 rs956251098	2462	M>I		No	ClinGen TOPMed gnomAD
rs1222044352 CA357770023	2462	M>V		No	ClinGen TOPMed
rs1185627502 CA357769893	2467	I>K		No	ClinGen gnomAD
rs1321589305 CA357769713	2473	K>R		No	ClinGen gnomAD
rs969205560 CA102712035	2474	N>T		No	ClinGen TOPMed
CA3029139 rs372314777	2475	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA357769638 rs1270529200	2476	K>R		No	ClinGen TOPMed
rs1235453664 CA357769524	2479	E>G		No	ClinGen gnomAD
CA3029138 rs758504378	2481	E>K		No	ClinGen ExAC TOPMed gnomAD
rs567534021 CA3029128	2483	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs371428634 CA102710387	2483	S>R		No	ClinGen ESP TOPMed
CA102710381 rs766552470	2484	A>V		No	ClinGen TOPMed
rs367638061 CA102710375	2485	T>A		No	ClinGen ESP TOPMed
rs80310624 CA102710374	2485	T>K		No	ClinGen Ensembl
CA357768948 rs1553923391	2487	A>G		No	ClinGen Ensembl
rs1013025138 CA102710373	2488	T>S		No	ClinGen TOPMed
CA3029127 rs201066291	2490	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775217023 CA3029126	2492	Q>P		No	ClinGen ExAC gnomAD
rs1035889861 CA102710361	2495	V>F		No	ClinGen TOPMed gnomAD
CA3029125 rs769327883	2496	I>T		No	ClinGen ExAC gnomAD
CA357768762 rs1218712416	2497	R>S		No	ClinGen gnomAD
rs759293187 CA3029124	2497	R>T		No	ClinGen ExAC gnomAD
CA102710351 rs35528151	2497	R>W		No	ClinGen Ensembl
CA357768716 rs1301126783	2500	R>K		No	ClinGen gnomAD
rs563843733 CA3029123	2502	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA357768673 rs563843733	2502	N>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1003446969 CA102710329	2505	R>G		No	ClinGen Ensembl
rs1395167430 CA357768614	2505	R>K		No	ClinGen gnomAD
CA357768604 rs1466253478	2505	R>S		No	ClinGen TOPMed
CA3029122 rs551913129	2506	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1170790630 CA357768451	2508	Q>R		No	ClinGen TOPMed gnomAD
rs777709300 CA3029119	2509	A>T		No	ClinGen ExAC gnomAD
rs1449785723 CA357768430	2511	D>G		No	ClinGen gnomAD
CA3029118 rs115296671	2512	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs779111765 CA3029116	2514	V>L		No	ClinGen ExAC gnomAD
rs1187712696 CA357776441	2515	I>M		No	ClinGen gnomAD
rs773063660 CA3029102	2516	S>P		No	ClinGen ExAC TOPMed gnomAD
CA357776439 rs773063660	2516	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1578527401 CA357776426	2517	E>K		No	ClinGen Ensembl
CA3029101 rs771988921	2518	H>D		No	ClinGen ExAC gnomAD
CA357776398 rs1161934543	2518	H>R		No	ClinGen gnomAD
rs1444027441 CA357776381	2519	T>S		No	ClinGen gnomAD
rs1260062985 CA357776337	2522	Q>*		No	ClinGen gnomAD
CA102746968 rs373836132	2523	P>R		No	ClinGen Ensembl
rs774271160 CA3029099	2525	N>S		No	ClinGen ExAC TOPMed gnomAD
CA357776244 rs1318473484	2529	T>A		No	ClinGen gnomAD
CA357776217 rs1288704631	2531	G>R		No	ClinGen gnomAD
CA357776205 rs1479533020 COSM3719043	2532	G>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed
rs749425077 CA3029097	2533	G>D		No	ClinGen ExAC gnomAD
CA3029098 rs768814450	2533	G>S		No	ClinGen ExAC gnomAD
rs746229935 CA3029094	2535	G>D		No	ClinGen ExAC gnomAD
COSM3428010 rs756483643 CA3029095	2535	G>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs746229935 CA102746933	2535	G>V		No	ClinGen ExAC gnomAD
CA357776144 rs1185574797	2536	I>V		No	ClinGen TOPMed gnomAD
rs781728400 CA3029093	2537	V>A		No	ClinGen ExAC TOPMed gnomAD
CA357776129 rs1578527218	2537	V>I		No	ClinGen Ensembl
rs116210170 CA3029092	2539	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3029091 rs752150494	2540	T>A		No	ClinGen ExAC gnomAD
CA3029090 rs764610726	2542	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1305540072 CA357776041	2543	L>I		No	ClinGen TOPMed
rs754537502 CA3029089	2547	S>T		No	ClinGen ExAC gnomAD
rs963380776 CA102746927	2548	E>K		No	ClinGen Ensembl
rs1343081702 CA357775930	2549	H>L		No	ClinGen TOPMed
rs1188994346 CA357775940	2549	H>N		No	ClinGen gnomAD
rs1188994346 CA357775936	2549	H>Y		No	ClinGen gnomAD
rs570507978 CA102746924	2550	I>K		No	ClinGen gnomAD
CA102746918 rs909185061	2550	I>M		No	ClinGen Ensembl
CA357775916 rs570507978	2550	I>T		No	ClinGen gnomAD
rs1207005144 CA357775777	2559	L>V		No	ClinGen gnomAD
rs1486781169 CA357775762	2560	K>Q		No	ClinGen gnomAD
CA3029087 rs755566951	2561	Q>E		No	ClinGen ExAC gnomAD
rs1216401280 CA357775736	2561	Q>R		No	ClinGen Ensembl
CA102746907 rs79855930	2562	Q>K		No	ClinGen Ensembl
rs1560585400 CA357775712	2564	E>K		No	ClinGen Ensembl
CA3029085 rs201296134	2568	K>T		No	ClinGen 1000Genomes ExAC
rs747361201 CA102746905	2570	K>N		No	ClinGen Ensembl
rs948887103 CA102746904	2573	L>S		No	ClinGen TOPMed gnomAD
CA102746899 rs1025593505	2575	S>N		No	ClinGen Ensembl
CA357775400 rs1324565545	2576	N>T		No	ClinGen gnomAD
CA3029062 rs751388982	2577	N>S		No	ClinGen ExAC gnomAD
CA3029061 rs149532916	2578	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA357775359 rs1265981501	2578	Q>H		No	ClinGen TOPMed
CA357775349 rs1464330367	2579	H>R		No	ClinGen TOPMed
rs762856315 CA3029060	2579	H>Y		No	ClinGen ExAC
rs1578523577 CA357775335	2580	L>F		No	ClinGen Ensembl
CA357775276 rs1169937323	2584	V>I		No	ClinGen gnomAD
CA3029059 rs775690005	2585	K>N		No	ClinGen ExAC TOPMed gnomAD
CA3029056 rs756585382	2590	R>T		No	ClinGen ExAC TOPMed gnomAD
rs372141994 CA102745447	2591	T>N		No	ClinGen ESP TOPMed gnomAD
CA3029053 rs778066399	2592	L>H		No	ClinGen ExAC TOPMed gnomAD
rs747403961 CA3029054	2592	L>I		No	ClinGen ExAC TOPMed gnomAD
CA357775130 rs778066399	2592	L>R		No	ClinGen ExAC TOPMed gnomAD
rs747403961 CA102745391	2592	L>V		No	ClinGen ExAC TOPMed gnomAD
CA3029052 rs772614795	2593	K>E		No	ClinGen ExAC gnomAD
CA357775119 rs1342214385	2593	K>R		No	ClinGen gnomAD
rs1231470491 CA357775063	2597	H>Y		No	ClinGen gnomAD
rs779505107 CA3029050	2599	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs779505107 CA357775045	2599	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA357775034 rs1275969623	2601	T>A		No	ClinGen gnomAD
CA357775027 rs1267174082	2602	C>G		No	ClinGen gnomAD
CA3029049 rs558559263	2602	C>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780830543 CA3029047	2603	E>K		No	ClinGen ExAC gnomAD
CA3029046 rs756931328	2607	K>N		No	ClinGen ExAC
CA102745282 rs998254790	2608	S>F		No	ClinGen gnomAD
rs760304478 CA102745279	2610	K>Q		No	ClinGen Ensembl
CA3029044 rs150817909	2611	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3029045 rs150817909	2611	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA3029043 rs762917141	2612	T>I		No	ClinGen ExAC gnomAD
rs1427174087 CA357774876	2613	G>A		No	ClinGen TOPMed gnomAD
rs1427174087 CA357774877	2613	G>E		No	ClinGen TOPMed gnomAD
CA3029041 rs765357756	2614	T>A		No	ClinGen ExAC gnomAD
rs1469416111 CA357774860	2614	T>I		No	ClinGen gnomAD
CA3029040 rs759699906	2617	K>E		No	ClinGen ExAC TOPMed gnomAD
CA102745216 rs1037187636	2622	T>I		No	ClinGen gnomAD
CA3029035 rs773603428	2624	S>C		No	ClinGen ExAC TOPMed gnomAD
CA3029036 rs760860508	2624	S>P		No	ClinGen ExAC gnomAD
CA102745140 rs141957526	2625	Q>H		No	ClinGen ESP ExAC gnomAD
rs772361306 CA3029034	2625	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs138843422 CA3029032	2626	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA357774661 rs1281585277	2627	K>E		No	ClinGen gnomAD
rs1204012680 CA357774656	2627	K>T		No	ClinGen TOPMed
CA3029030 rs145048632	2628	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA3029028 COSM3392644 RCV000501740 rs141321114	2629	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs187303852 CA3029029	2629	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA357774562 rs1334703601	2637	K>E		No	ClinGen gnomAD
rs138397432 CA3029027	2639	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs938426113 CA102745120	2640	P>L		No	ClinGen gnomAD
rs777587692 CA3029026	2640	P>S		No	ClinGen ExAC TOPMed gnomAD
CA3029024 rs536001676	2642	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1486355953 CA357774507	2645	F>L		No	ClinGen gnomAD
rs755028755 CA3029022	2646	D>E		No	ClinGen ExAC TOPMed gnomAD
CA357774494 rs755028755	2646	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1214481323 CA357774492	2647	S>G		No	ClinGen gnomAD
CA102745085 rs750791950	2647	S>R		No	ClinGen Ensembl
CA3029021 rs143276206	2648	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766417487 CA3029020	2650	K>R		No	ClinGen ExAC TOPMed gnomAD
CA357774465 rs1229388941	2651	S>C		No	ClinGen TOPMed gnomAD
rs773335368 CA3029018	2652	L>S		No	ClinGen ExAC gnomAD
CA3029017 rs550425714	2654	S>L		No	ClinGen 1000Genomes ExAC gnomAD
CA102745025 rs1014990693	2655	P>L		No	ClinGen TOPMed gnomAD
CA357774445 rs1380209138	2655	P>S		No	ClinGen TOPMed gnomAD
CA3029016 rs762171103	2658	V>A		No	ClinGen ExAC gnomAD
rs774765853 CA3029015	2659	R>C		No	ClinGen ExAC TOPMed gnomAD
rs774765853 CA357774422	2659	R>G		No	ClinGen ExAC TOPMed gnomAD
CA3029014 rs769138961	2659	R>H		No	ClinGen ExAC gnomAD
rs769138961 CA357774420	2659	R>P		No	ClinGen ExAC gnomAD
rs770382591 CA3029011	2660	Y>C		No	ClinGen ExAC gnomAD
CA3029012 rs776178991	2660	Y>H		No	ClinGen ExAC gnomAD
rs758197733 CA3029008	2665	S>G		No	ClinGen ExAC gnomAD
rs1273541102 CA357774362	2668	L>F		No	ClinGen TOPMed
CA357774353 rs1207320846	2669	C>Y		No	ClinGen TOPMed
rs1249754885 CA357774346 RCV001310493	2670	P>S		No	ClinGen ClinVar TOPMed dbSNP
CA357774320 rs1444967632	2672	V>L		No	ClinGen TOPMed gnomAD
CA357774322 rs1444967632	2672	V>M		No	ClinGen TOPMed gnomAD
CA3028994 rs775887389	2675	A>T		No	ClinGen ExAC gnomAD
rs770419707 CA3028993	2675	A>V		No	ClinGen ExAC gnomAD
CA102743383 rs368293438	2679	S>I		No	ClinGen ESP TOPMed gnomAD
rs368293438 CA357774273	2679	S>N		No	ClinGen ESP TOPMed gnomAD
rs1282898516 CA357774265	2680	V>A		No	ClinGen gnomAD
rs747847978 CA3028989	2684	P>A		No	ClinGen ExAC gnomAD
rs936713162 CA102743317	2684	P>R		No	ClinGen TOPMed gnomAD
rs778819691 CA3028988	2685	G>D		No	ClinGen ExAC
rs1344374822 CA357774226	2686	P>L		No	ClinGen gnomAD
CA357774230 rs1257088635	2686	P>S		No	ClinGen TOPMed
rs749198775 CA357774185	2688	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA3028987 rs754849965	2688	H>R		No	ClinGen ExAC gnomAD
rs1039662971 CA102743297	2689	A>T		No	ClinGen TOPMed gnomAD
rs779866972 CA3028985	2690	S>A		No	ClinGen ExAC gnomAD
CA3028984 rs756144864	2690	S>F		No	ClinGen ExAC TOPMed gnomAD
COSM1671177 CA3028982 rs781298329	2693	K>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA357774097 rs1439519568	2694	D>G		No	ClinGen gnomAD
CA3028981 rs61756293	2694	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA357774086 rs1372045437	2695	V>M		No	ClinGen gnomAD
rs114178434 CA102743256	2696	P>S		No	ClinGen 1000Genomes
CA3028980 rs751815365	2700	T>A		No	ClinGen ExAC gnomAD
CA3028979 rs145876863	2700	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA357774000 rs145876863	2700	T>S		No	ClinGen ESP ExAC TOPMed gnomAD

No associated diseases with Q02224

10 regional properties for Q02224

Type	Name	Position	InterPro Accession
domain	CRIB domain	1546 - 1583	IPR000095
domain	Protein kinase domain	100 - 369	IPR000719
domain	AGC-kinase, C-terminal	370 - 440	IPR000961
domain	Citron homology (CNH) domain	1203 - 1504	IPR001180
domain	Pleckstrin homology domain	1059 - 1179	IPR001849
domain	Protein kinase C-like, phorbol ester/diacylglycerol-binding domain	989 - 1040	IPR002219
active_site	Serine/threonine-protein kinase, active site	220 - 232	IPR008271
binding_site	Protein kinase, ATP binding site	106 - 129	IPR017441
domain	Protein kinase, C-terminal	388 - 430	IPR017892
domain	KELK-motif containing domain	477 - 556	IPR031597

Functions

		Description
EC Number
Subcellular Localization	Chromosome, centromere, kinetochore Cytoplasm, cytoskeleton, spindle Chromosome, centromere	Associates with kinetochores during congression (as early as prometaphase), relocates to the spindle midzone at anaphase, and is quantitatively discarded at the end of the cell division (By similarity) Recruited to the kinetochore in a SEPT7, CENPQ and TRAPPC12-dependent manner (PubMed:18460473, PubMed:25395579, PubMed:25918224) Recruited to the pericentromeric/centromeric regions of the chromosome in a CTCF-dependent manner (PubMed:26321640)
PANTHER Family	PTHR47968	CENTROMERE PROTEIN E
PANTHER Subfamily	PTHR47968:SF36	CENTROMERE-ASSOCIATED PROTEIN E
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

14 GO annotations of cellular component

Name	Definition
chromosome	A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information.
chromosome, centromeric region	The region of a chromosome that includes the centromeric DNA and associated proteins. In monocentric chromosomes, this region corresponds to a single area of the chromosome, whereas in holocentric chromosomes, it is evenly distributed along the chromosome.
condensed chromosome, centromeric region	The region of a condensed chromosome that includes the centromere and associated proteins, including the kinetochore. In monocentric chromosomes, this region corresponds to a single area of the chromosome, whereas in holocentric chromosomes, it is evenly distributed along the chromosome.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
kinetochore	A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules.
kinetochore microtubule	Any of the spindle microtubules that attach to the kinetochores of chromosomes by their plus ends, and maneuver the chromosomes during mitotic or meiotic chromosome segregation.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
microtubule	Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle.
microtubule cytoskeleton	The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins.
midbody	A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis.
mitotic spindle midzone	The area in the center of the anaphase spindle consisting of microtubules, microtubule bundling factors and kinesin motors where the spindle microtubules from opposite poles overlap in an antiparallel manner.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
spindle midzone	The area in the center of the spindle where the spindle microtubules from opposite poles overlap.

5 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
kinetochore binding	Binding to a kinetochore, a proteinaceous structure on a condensed chromosome, beside the centromere, to which the spindle fibers are attached.
microtubule binding	Binding to a microtubule, a filament composed of tubulin monomers.
microtubule motor activity	A motor activity that generates movement along a microtubule, driven by ATP hydrolysis.
plus-end-directed microtubule motor activity	A motor activity that generates movement along a microtubule toward the plus end, driven by ATP hydrolysis.

14 GO annotations of biological process

Name	Definition
attachment of mitotic spindle microtubules to kinetochore	The cell cycle process in which spindle microtubules become physically associated with the proteins making up the kinetochore complex as part of mitotic metaphase plate congression.
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.
chromosome segregation	The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. In eukaryotes, chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles.
kinetochore assembly	The aggregation, arrangement and bonding together of a set of components to form the kinetochore, a multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules.
lateral attachment of mitotic spindle microtubules to kinetochore	The cell cycle process in which sister chromatids become laterally attached to spindle microtubules as part of mitotic metaphase plate congression. Attachment precedes migration along microtubules towards the spindle equator (metaphase plate).
metaphase plate congression	The alignment of chromosomes at the metaphase plate (spindle equator), a plane halfway between the poles of the spindle.
microtubule plus-end directed mitotic chromosome migration	The cell cycle process in which chromosomes that are laterally attached to one or more mitotic spindle microtubules migrate towards the spindle equator via plus-end-directed movement along the microtubules. This process is part of mitotic metaphase plate congression.
microtubule-based movement	A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules.
mitotic cell cycle	Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent.
mitotic chromosome movement towards spindle pole	The cell cycle process in which the directed movement of chromosomes from the center of the spindle towards the spindle poles occurs. This mediates by the shortening of microtubules attached to the chromosomes, during mitosis.
mitotic metaphase plate congression	The cell cycle process in which chromosomes are aligned at the metaphase plate, a plane halfway between the poles of the mitotic spindle, during mitosis.
mitotic spindle organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the microtubule spindle during a mitotic cell cycle.
positive regulation of protein kinase activity	Any process that activates or increases the frequency, rate or extent of protein kinase activity.
regulation of mitotic metaphase/anaphase transition	Any process that modulates the frequency, rate or extent of the cell cycle process in which a cell progresses from metaphase to anaphase during mitosis, triggered by the activation of the anaphase promoting complex by Cdc20/Sleepy homolog which results in the degradation of Securin.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q6RT24	Cenpe	Centromere-associated protein E	Mus musculus (Mouse)	SS

10	20	30	40	50	60
MAEEGAVAVC	VRVRPLNSRE	ESLGETAQVY	WKTDNNVIYQ	VDGSKSFNFD	RVFHGNETTK
70	80	90	100	110	120
NVYEEIAAPI	IDSAIQGYNG	TIFAYGQTAS	GKTYTMMGSE	DHLGVIPRAI	HDIFQKIKKF
130	140	150	160	170	180
PDREFLLRVS	YMEIYNETIT	DLLCGTQKMK	PLIIREDVNR	NVYVADLTEE	VVYTSEMALK
190	200	210	220	230	240
WITKGEKSRH	YGETKMNQRS	SRSHTIFRMI	LESREKGEPS	NCEGSVKVSH	LNLVDLAGSE
250	260	270	280	290	300
RAAQTGAAGV	RLKEGCNINR	SLFILGQVIK	KLSDGQVGGF	INYRDSKLTR	ILQNSLGGNA
310	320	330	340	350	360
KTRIICTITP	VSFDETLTAL	QFASTAKYMK	NTPYVNEVST	DEALLKRYRK	EIMDLKKQLE
370	380	390	400	410	420
EVSLETRAQA	MEKDQLAQLL	EEKDLLQKVQ	NEKIENLTRM	LVTSSSLTLQ	QELKAKRKRR
430	440	450	460	470	480
VTWCLGKINK	MKNSNYADQF	NIPTNITTKT	HKLSINLLRE	IDESVCSESD	VFSNTLDTLS
490	500	510	520	530	540
EIEWNPATKL	LNQENIESEL	NSLRADYDNL	VLDYEQLRTE	KEEMELKLKE	KNDLDEFEAL
550	560	570	580	590	600
ERKTKKDQEM	QLIHEISNLK	NLVKHAEVYN	QDLENELSSK	VELLREKEDQ	IKKLQEYIDS
610	620	630	640	650	660
QKLENIKMDL	SYSLESIEDP	KQMKQTLFDA	ETVALDAKRE	SAFLRSENLE	LKEKMKELAT
670	680	690	700	710	720
TYKQMENDIQ	LYQSQLEAKK	KMQVDLEKEL	QSAFNEITKL	TSLIDGKVPK	DLLCNLELEG
730	740	750	760	770	780
KITDLQKELN	KEVEENEALR	EEVILLSELK	SLPSEVERLR	KEIQDKSEEL	HIITSEKDKL
790	800	810	820	830	840
FSEVVHKESR	VQGLLEEIGK	TKDDLATTQS	NYKSTDQEFQ	NFKTLHMDFE	QKYKMVLEEN
850	860	870	880	890	900
ERMNQEIVNL	SKEAQKFDSS	LGALKTELSY	KTQELQEKTR	EVQERLNEME	QLKEQLENRD
910	920	930	940	950	960
STLQTVEREK	TLITEKLQQT	LEEVKTLTQE	KDDLKQLQES	LQIERDQLKS	DIHDTVNMNI
970	980	990	1000	1010	1020
DTQEQLRNAL	ESLKQHQETI	NTLKSKISEE	VSRNLHMEEN	TGETKDEFQQ	KMVGIDKKQD
1030	1040	1050	1060	1070	1080
LEAKNTQTLT	ADVKDNEIIE	QQRKIFSLIQ	EKNELQQMLE	SVIAEKEQLK	TDLKENIEMT
1090	1100	1110	1120	1130	1140
IENQEELRLL	GDELKKQQEI	VAQEKNHAIK	KEGELSRTCD	RLAEVEEKLK	EKSQQLQEKQ
1150	1160	1170	1180	1190	1200
QQLLNVQEEM	SEMQKKINEI	ENLKNELKNK	ELTLEHMETE	RLELAQKLNE	NYEEVKSITK
1210	1220	1230	1240	1250	1260
ERKVLKELQK	SFETERDHLR	GYIREIEATG	LQTKEELKIA	HIHLKEHQET	IDELRRSVSE
1270	1280	1290	1300	1310	1320
KTAQIINTQD	LEKSHTKLQE	EIPVLHEEQE	LLPNVKEVSE	TQETMNELEL	LTEQSTTKDS
1330	1340	1350	1360	1370	1380
TTLARIEMER	LRLNEKFQES	QEEIKSLTKE	RDNLKTIKEA	LEVKHDQLKE	HIRETLAKIQ
1390	1400	1410	1420	1430	1440
ESQSKQEQSL	NMKEKDNETT	KIVSEMEQFK	PKDSALLRIE	IEMLGLSKRL	QESHDEMKSV
1450	1460	1470	1480	1490	1500
AKEKDDLQRL	QEVLQSESDQ	LKENIKEIVA	KHLETEEELK	VAHCCLKEQE	ETINELRVNL
1510	1520	1530	1540	1550	1560
SEKETEISTI	QKQLEAINDK	LQNKIQEIYE	KEEQFNIKQI	SEVQEKVNEL	KQFKEHRKAK
1570	1580	1590	1600	1610	1620
DSALQSIESK	MLELTNRLQE	SQEEIQIMIK	EKEEMKRVQE	ALQIERDQLK	ENTKEIVAKM
1630	1640	1650	1660	1670	1680
KESQEKEYQF	LKMTAVNETQ	EKMCEIEHLK	EQFETQKLNL	ENIETENIRL	TQILHENLEE
1690	1700	1710	1720	1730	1740
MRSVTKERDD	LRSVEETLKV	ERDQLKENLR	ETITRDLEKQ	EELKIVHMHL	KEHQETIDKL
1750	1760	1770	1780	1790	1800
RGIVSEKTNE	ISNMQKDLEH	SNDALKAQDL	KIQEELRIAH	MHLKEQQETI	DKLRGIVSEK
1810	1820	1830	1840	1850	1860
TDKLSNMQKD	LENSNAKLQE	KIQELKANEH	QLITLKKDVN	ETQKKVSEME	QLKKQIKDQS
1870	1880	1890	1900	1910	1920
LTLSKLEIEN	LNLAQKLHEN	LEEMKSVMKE	RDNLRRVEET	LKLERDQLKE	SLQETKARDL
1930	1940	1950	1960	1970	1980
EIQQELKTAR	MLSKEHKETV	DKLREKISEK	TIQISDIQKD	LDKSKDELQK	KIQELQKKEL
1990	2000	2010	2020	2030	2040
QLLRVKEDVN	MSHKKINEME	QLKKQFEAQN	LSMQSVRMDN	FQLTKKLHES	LEEIRIVAKE
2050	2060	2070	2080	2090	2100
RDELRRIKES	LKMERDQFIA	TLREMIARDR	QNHQVKPEKR	LLSDGQQHLT	ESLREKCSRI
2110	2120	2130	2140	2150	2160
KELLKRYSEM	DDHYECLNRL	SLDLEKEIEF	QKELSMRVKA	NLSLPYLQTK	HIEKLFTANQ
2170	2180	2190	2200	2210	2220
RCSMEFHRIM	KKLKYVLSYV	TKIKEEQHES	INKFEMDFID	EVEKQKELLI	KIQHLQQDCD
2230	2240	2250	2260	2270	2280
VPSRELRDLK	LNQNMDLHIE	EILKDFSESE	FPSIKTEFQQ	VLSNRKEMTQ	FLEEWLNTRF
2290	2300	2310	2320	2330	2340
DIEKLKNGIQ	KENDRICQVN	NFFNNRIIAI	MNESTEFEER	SATISKEWEQ	DLKSLKEKNE
2350	2360	2370	2380	2390	2400
KLFKNYQTLK	TSLASGAQVN	PTTQDNKNPH	VTSRATQLTT	EKIRELENSL	HEAKESAMHK
2410	2420	2430	2440	2450	2460
ESKIIKMQKE	LEVTNDIIAK	LQAKVHESNK	CLEKTKETIQ	VLQDKVALGA	KPYKEEIEDL
2470	2480	2490	2500	2510	2520
KMKLVKIDLE	KMKNAKEFEK	EISATKATVE	YQKEVIRLLR	ENLRRSQQAQ	DTSVISEHTD
2530	2540	2550	2560	2570	2580
PQPSNKPLTC	GGGSGIVQNT	KALILKSEHI	RLEKEISKLK	QQNEQLIKQK	NELLSNNQHL
2590	2600	2610	2620	2630	2640
SNEVKTWKER	TLKREAHKQV	TCENSPKSPK	VTGTASKKKQ	ITPSQCKERN	LQDPVPKESP
2650	2660	2670	2680	2690	2700
KSCFFDSRSK	SLPSPHPVRY	FDNSSLGLCP	EVQNAGAESV	DSQPGPWHAS	SGKDVPECKT

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