AiPD: Autoinhibited Protein Database

Q9H4A3

Gene name	WNK1
Protein name	Serine/threonine-protein kinase WNK1
Names	Erythrocyte 65 kDa protein, p65, Kinase deficient protein, Protein kinase lysine-deficient 1, Protein kinase with no lysine 1, hWNK1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:65125
EC number	2.7.11.1: Protein-serine/threonine kinases
Protein Class

Descriptions

WNK family protein kinases are large enzymes that contain the catalytic lysine in a unique position compared with all other protein kinases. Rat WNK1 (Q9JIH7) contains an autoinhibitory region C-terminal to the catalytic kinase domain.

Autoinhibitory domains (AIDs)

514-537 (Autoinhibitory region) SS

Target domain	221-479 (Protein kinase domain)
Relief mechanism	PTM
Assay

AID

514-537 (Autoinhibitory region)

Target domain

221-479 (Protein kinase domain)

Relief mechanism

PTM (Autophosphorylation at Ser-382 within WNK activation loop and phosphorylation at Ser-378)

Assay

Accessory elements

367-388 (Activation loop from InterPro)

Target domain	221-479 (Protein kinase domain)
Relief mechanism
Assay

References

Xu BE et al. (2002) "Regulation of WNK1 by an autoinhibitory domain and autophosphorylation", The Journal of biological chemistry, 277, 48456-62

Autoinhibited structure

Activated structure

6 structures for Q9H4A3

Entry ID	Method	Resolution	Chain	Position	Source
4PWN	X-ray	184 A	A	210-482	PDB
5TF9	X-ray	250 A	A/B	206-483	PDB
5WDY	X-ray	246 A	A/B	206-483	PDB
5WE8	X-ray	201 A	A/B	206-483	PDB
6FBK	X-ray	174 A	P	1247-1269	PDB
AF-Q9H4A3-F1	Predicted				AlphaFoldDB

1645 variants for Q9H4A3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001329102 rs1939515873	20	P>L	Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinVar dbSNP
rs1245390063 RCV000528535 CA383303542	22	A>V	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA383303576 RCV000647827 rs1211154368	25	P>L	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000685026 CA6381725 rs775564750	43	A>G	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001855884 RCV000756938 rs764240024 CA6381727	44	A>T	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001111896 CA383303856 rs1281317365	49	G>S	Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA383304040 rs1174073920 RCV000521399	56	R>G	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs886049865 CA10642469 RCV000344241	68	A>T	Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA383304281 RCV000554749 rs1483871160	72	T>A	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1038270127 CA231463828 RCV000533336	73	T>A	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001859860 RCV000359309 rs886049866 CA10642472	89	N>S	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs560595238 RCV001859861 CA6381752 RCV000333359	99	P>L	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA6381751 rs563691424 RCV000355967 RCV001487120	99	P>S	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs142165599 RCV000647833 CA6381753	105	P>R	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001215344 rs773816207	120	H>R	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinVar dbSNP
CA383306077 RCV000647834 rs752345591	129	A>S	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1277355342 RCV000553415 CA383306262	138	P>L	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA291640 RCV000274665 RCV000126341 rs11554421 RCV000714198 VAR_041309	141	A>T	Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000326169 rs886049867 CA10638593	164	R>L	Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000688394 CA6381803 rs201447798	171	L>F	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
RCV000695416 rs1347086453	172	V>missing	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinVar dbSNP
RCV000535928 CA383307605 rs1404174344	199	Q>E	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001249551 rs1591543044 RCV000790295	214	M>missing	Neuropathy, hereditary sensory and autonomic, type 2A Charcot-Marie-Tooth disease [ClinVar]	Yes	ClinVar dbSNP
CA6381826 RCV000647868 rs72647373	226	E>V	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000691306 rs200234585 CA6381854	289	S>P	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1591818480 RCV000790266	307	G>missing	Charcot-Marie-Tooth disease [ClinVar]	Yes	ClinVar dbSNP
rs1591884457 RCV000790264	356	F>missing	Charcot-Marie-Tooth disease [ClinVar]	Yes	ClinVar dbSNP
RCV000790294 rs1591884532	364	V>missing	Charcot-Marie-Tooth disease [ClinVar]	Yes	ClinVar dbSNP
RCV000790265 rs1591884667	380	A>missing	Charcot-Marie-Tooth disease [ClinVar]	Yes	ClinVar dbSNP
RCV000692807 CA383329536 rs1565489044	426	Q>R	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs387906332 RCV000005478	531	D>missing	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinVar dbSNP
rs1565534337 CA383334724 RCV000694827	557	A>T	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA6382031 RCV000695940 rs144114167	596	S>F	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs757732497 CA10633628 RCV000318610	597	S>N	Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1455320237 CA383335418 RCV000647837	608	S>C	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000290080 VAR_041314 rs11833299 RCV000539670 CA6382091	674	T>A	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA383336342 RCV000647836 rs1249953042	674	T>I	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000647835 CA6382102 rs764336343	698	V>I	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000540017 rs764336343 CA383336626	698	V>L	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs772771448 CA6382104 RCV000647850	702	S>Y	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000687872 rs1393034802 CA383336787	712	S>G	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1290299901 RCV000694712 CA383342946	730	V>I	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000354117 CA6382410 RCV000538924 rs147099510	736	I>V	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000262069 CA10638652 rs886049905	749	A>V	Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA6382426 RCV000703964 rs768622577 RCV001111333	756	Q>E	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001329101 rs776731718	756	Q>P	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinVar dbSNP
rs143890340 CA6382433 RCV000647857	764	T>A	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs144292256 CA6382441 RCV000647852	774	V>M	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1952807311 RCV001219379	775	S>*	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinVar dbSNP
CA10642521 rs72649879 RCV000322870	778	Q>R	Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000553966 RCV000732756 rs141428612 RCV000326506 CA6382446	779	A>V	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000647859 rs199930107 CA6382479	814	S>L	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001113348 rs1952968012	822	A>V	Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinVar dbSNP
rs56015776 RCV000994765 RCV000532276 VAR_041315 CA6382487 RCV000384816	823	H>R	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV000647843 CA6382490 rs575889688	830	P>L	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA6382510 RCV000557408 rs766223909	853	T>M	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000684942 CA6382513 rs778139234	856	T>K	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000395044 rs529032048 CA6382525 RCV000338635	875	T>R	Pseudohypoaldosteronism type 2A Hereditary sensory and autonomic neuropathy type 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA6382527 rs183506727 RCV000647851	881	T>I	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA6382533 rs569121553 RCV000706295	886	P>A	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs200100184 RCV000530346 CA6382544	895	Q>R	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6382548 RCV001114720 rs752492830	904	T>A	Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs775394703 RCV000803470 CA6382565	942	L>P	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA6382592 rs753149891 RCV001316478	947	P>T	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001343011 rs932461182	948	P>T	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinVar dbSNP
rs1555146635 CA383326936 RCV000647842	967	A>T	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs754320383 COSM3793063 RCV000687771 CA6382613	981	P>L	Neuropathy, hereditary sensory and autonomic, type 2A urinary_tract [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV000693282 CA383327035 rs1185591309	983	E>Q	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000342730 rs886049923 CA10642534	990	Y>C	Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs186736970 CA6382625 RCV000303272	1006	P>S	Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA6382626 COSM1513732 RCV000394245 rs191295023	1007	M>V	lung Pseudohypoaldosteronism type 2C [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000560044 CA6382629 rs769099133	1010	V>A	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA6382635 RCV000647839 rs766021155	1023	L>S	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000694781 CA383327514 rs1565573971	1045	V>F	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000273728 CA10642546 rs886049924	1059	T>A	Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000647831 CA6382686 RCV000383285 rs201379287	1063	T>I	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs760251215 RCV000548773 CA6382692	1070	S>T	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000647828 CA6382738 rs767286874	1105	S>C	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA6382742 RCV000559166 rs750478389	1109	R>H	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000537850 RCV000049257 RCV000404011 CA143951 rs150532648	1172	I>M	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Variant of unknown significance [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs754769050 CA6382797 RCV000352609 RCV001850640	1176	S>L	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1555148491 RCV000548057 CA383329126	1191	M>I	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000313205 rs72650720 CA240768 RCV000175092	1193	S>N	Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA383329202 RCV000541348 rs1478319114	1198	V>M	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA6382806 rs761597327 RCV000693734	1205	G>E	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000647849 rs972194980 CA231478408	1208	S>I	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA6382812 rs267603708 RCV000693743	1220	S>F	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs886049925 CA10642548 RCV000363895	1221	Q>R	Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001111530 COSM1232793 CA6382827 rs772922134	1233	A>V	large_intestine Pseudohypoaldosteronism type 2C [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
CA6382886 RCV000532745 rs149186881	1287	A>S	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs775050259 RCV000706250 CA6382890	1295	S>C	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1555149377 RCV000542923 CA383330107	1295	S>P	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000281301 rs143361850 CA6382893	1300	S>F	Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA6382896 RCV000647855 rs773117623	1311	R>I	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1490023753 RCV001113523	1329	T>R	Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinVar dbSNP
RCV000687306 CA231478997 RCV000714199 rs200513331	1331	P>S	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs200513331 RCV000707100 CA6382903	1331	P>T	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000647829 CA6382909 rs746601991	1348	T>I	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA383330469 RCV000685425 rs1565581215	1352	A>V	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA383330477 rs1182500229 RCV000647830	1353	T>I	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA6382916 RCV001113525 rs770784437	1364	N>S	Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP
rs1565581431 CA383330578 RCV000689291	1370	V>I	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs761892301 RCV000647858 CA6382938	1411	S>C	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs752331641 CA6382946 RCV000345962 RCV002056340	1424	I>V	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA6382954 RCV000697010 rs372955308	1443	S>C	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP
rs376176091 CA6382956 RCV000647847	1446	A>T	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000546719 rs142543401 CA6382960 RCV000266609	1452	T>A	Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6382967 RCV000358041 rs368621387	1462	G>R	Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs757201529 CA6382968 RCV000556863	1463	S>N	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA6382978 RCV000546794 rs774954731	1492	V>I	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000647846 CA6382983 rs760474824	1495	T>S	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1953551018 RCV001114939	1497	S>L	Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinVar dbSNP
RCV000246878 rs7955371 VAR_059034 RCV000318455 RCV000576814 CA6382988	1506	C>S	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA383331446 RCV000557208 rs1454330405	1516	P>H	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA6382996 rs146861951 RCV000373087 RCV000550570	1522	V>M	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA891862932 rs1565583433 RCV001239861 RCV000722853	1527	H>RT	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs776834411 CA6383020 RCV000697909	1568	H>P	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA383331941 rs1565584248 RCV000689593	1598	P>S	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000691251 CA6383036 rs375381891	1606	P>A	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs781667314 RCV000706095 COSM1364685 CA6383037	1608	A>V	Neuropathy, hereditary sensory and autonomic, type 2A large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
rs1953582555 RCV001109294	1619	H>N	Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinVar dbSNP
rs1555150817 RCV000549527 CA383332227	1642	T>I	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1565585036 RCV001109295 CA383332480	1681	S>P	Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000714785 rs771546256 CA6383062 RCV000714786	1690	P>A	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs760615496 CA6383064 RCV001345582	1696	A>T	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000647854 CA6383073 rs756614581	1715	N>S	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs375562377 RCV000541660 CA6383085	1730	T>I	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs577485048 RCV000877467 CA6383088	1737	P>A	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs146586443 CA6383090 RCV000689245	1741	T>A	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000383349 rs752078094 CA6383097 RCV000687160	1753	K>R	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs201521760 CA6383127 RCV000540884	1764	V>L	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001109297 CA6383128 rs756087008	1765	G>A	Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000699753 rs1183977237 CA383333057	1772	T>P	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000285251 rs773797682 CA10638726 RCV000342697	1790	Q>H	Pseudohypoaldosteronism type 2A Hereditary sensory and autonomic neuropathy type 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
VAR_041317 rs12828016 CA6383167 RCV000355246 RCV000250212 RCV000576491	1808	M>I	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000529851 rs373765496 CA6383205	1831	T>R	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs138219481 RCV000690187 CA6383208	1832	Q>H	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA6383224 RCV001114567 rs747791200 RCV002069847	1838	S>F	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1565600344 RCV000698581	1842	E>missing	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinVar dbSNP
CA6383225 RCV000559562 rs769345308	1844	P>S	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs886048785 CA10633658 RCV000285973	1852	A>G	Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA383334332 RCV001521461 RCV001197784 rs1395162926	1858	G>R	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA6383270 RCV000647832 rs200979623	1907	P>L	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000288019 rs201995891 CA242472 RCV000345610 RCV000176498	1912	I>L	Pseudohypoaldosteronism type 2A Hereditary sensory and autonomic neuropathy type 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1269384433 RCV000699446 CA383335121	1923	E>V	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA383335468 RCV000647844 rs1555157875	1950	T>I	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs72650764 RCV000692654 CA6383293	1951	T>A	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000367530 RCV000647841 COSM1193204 rs201766777 CA6383295	1957	R>C	lung Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000300646 CA10633667 rs72650765 RCV000687759	1981	F>L	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA6383303 rs577801497 RCV000260785	1990	P>S	Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA6383316 rs560836712 RCV000383533	2011	S>Y	Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
RCV001329103 rs1954746060	2017	A>V	Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinVar dbSNP
RCV000556567 rs1555158125 CA383336317	2020	S>N	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA383336331 RCV000688010 rs1565604539	2021	R>K	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001859833 rs72650766 RCV000325346 CA6383332	2034	H>R	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs397509409 CA143953 RCV000049258	2047	S>N	Variant of unknown significance [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA6383342 rs561238194 RCV000528319	2051	S>I	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
CA383337157 rs1310976331 RCV000823615	2104	K>E	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000538613 CA6383390 rs757825668	2125	R>Q	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000351996 CA10633668 rs886048786	2148	L>V	Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs762925275 RCV001114898 RCV001856512 CA6383419	2166	T>I	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA383338083 rs1555160733 RCV000548993	2168	H>L	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs747750974 CA383338231 RCV001002280 RCV001860512	2192	D>N	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000694632 rs72650768 CA231490270	2208	S>R	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6383491 RCV000699482 rs770327670	2266	G>V	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000647856 CA6383542 rs770326362	2334	G>S	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000532160 CA6383544 rs375901694	2335	A>T	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs146042595 RCV000291824 RCV000542452 CA6383550	2341	G>S	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001325683 rs1565626163	2367	L>missing	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinVar dbSNP
RCV000695345 rs771383347 CA6383562	2372	S>G	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA383341585 rs1555164537 RCV000647853	2374	P>L	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA383341625 RCV000647848 rs1555164556	2378	N>S	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs531919850 CA10638740 RCV000328165	2380	R>Q	Pseudohypoaldosteronism type 2C [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs56262445 RCV000647838 VAR_041322 CA6383568	2380	R>W	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001985073 rs55650617 CA6383571	2383	T>K	Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs745504522 CA6381697	2	S>F		No	ClinGen ExAC TOPMed gnomAD
CA6381699 rs779638918	4	G>C		No	ClinGen ExAC gnomAD
rs746437666 CA6381700	4	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1591539703 CA915947824	4	G>V		No	ClinGen Ensembl
CA383303293 rs1339845246	7	E>K		No	ClinGen TOPMed
rs1314045043 CA383303341	9	Q>H		No	ClinGen TOPMed
CA231463556 rs867437047	10	S>N		No	ClinGen gnomAD
CA383303379 rs776535900	11	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1348704504 CA383303390	12	T>A		No	ClinGen gnomAD
rs958802654 CA231463566	12	T>I		No	ClinGen TOPMed
rs1348704504 CA383303388	12	T>P		No	ClinGen gnomAD
rs1261454945 CA383303402	13	P>S		No	ClinGen gnomAD
CA383303418 rs1190991282	14	G>R		No	ClinGen gnomAD
CA6381705 rs774482432	16	L>Q		No	ClinGen ExAC gnomAD
rs774482432 CA383303451	16	L>R		No	ClinGen ExAC gnomAD
rs1288128502 CA383303466	17	F>L		No	ClinGen gnomAD
rs1451142227 CA383303464	17	F>S		No	ClinGen gnomAD
rs1385390994 CA383303473	18	L>F		No	ClinGen gnomAD
rs1437194239 CA383303496	19	S>L		No	ClinGen gnomAD
rs764758850 CA6381710	21	P>L		No	ClinGen ExAC gnomAD
rs764758850 CA6381711	21	P>R		No	ClinGen ExAC gnomAD
rs1331460551 CA383303522	21	P>S		No	ClinGen TOPMed
rs757737924 CA6381712	23	P>A		No	ClinGen ExAC TOPMed gnomAD
rs779314969 CA6381713	23	P>L		No	ClinGen ExAC TOPMed gnomAD
rs750705368 CA6381714	24	A>S		No	ClinGen ExAC TOPMed gnomAD
CA383303557 rs750705368	24	A>T		No	ClinGen ExAC TOPMed gnomAD
CA383303566 rs1260513039	24	A>V		No	ClinGen gnomAD
rs1426927147 CA383303572	25	P>A		No	ClinGen TOPMed
rs977121307 CA231463670	26	K>E		No	ClinGen TOPMed gnomAD
rs1182082362 CA383303581	26	K>R		No	ClinGen TOPMed
rs72647369 CA231463675	27	N>K		No	ClinGen Ensembl
CA6381716 rs779514494	27	N>Y		No	ClinGen ExAC gnomAD
CA383303590 rs1183716748	28	G>S		No	ClinGen gnomAD
CA231463684 rs966530109	29	S>T		No	ClinGen Ensembl
rs1364175663 CA383303618	32	D>N		No	ClinGen TOPMed gnomAD
CA383303620 rs1364175663	32	D>Y		No	ClinGen TOPMed gnomAD
CA383303689 rs1290904969	37	E>D		No	ClinGen TOPMed
rs1274462367 CA383303682	37	E>K		No	ClinGen Ensembl
rs762592112 CA6381723	42	A>E		No	ClinGen ExAC gnomAD
CA6381724 rs762592112	42	A>V		No	ClinGen ExAC gnomAD
rs754447060 CA6381728	44	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1204857945 CA383303776	45	D>N		No	ClinGen gnomAD
rs762433478 CA6381729	47	V>L		No	ClinGen ExAC gnomAD
CA231463751 rs1054625011	50	R>G		No	ClinGen TOPMed
CA6381731 rs750813319	51	T>I		No	ClinGen ExAC TOPMed gnomAD
CA383303949 rs1301822725	52	E>D		No	ClinGen TOPMed
CA891862933 RCV000722440 rs1565375322	53	E>DC		No	ClinGen ClinVar Ensembl dbSNP
rs758676601 CA6381732	55	R>K		No	ClinGen ExAC TOPMed gnomAD
rs758676601 CA383304022	55	R>M		No	ClinGen ExAC TOPMed gnomAD
CA6381733 rs147488093	58	R>C		No	ClinGen ESP ExAC
CA6381734 rs751181069	60	T>P		No	ClinGen ExAC TOPMed gnomAD
CA231463785 rs751181069	60	T>S		No	ClinGen ExAC TOPMed gnomAD
rs754529787 CA6381735	61	M>T		No	ClinGen ExAC gnomAD
CA383304129 rs1178074889	61	M>V		No	ClinGen gnomAD
rs780699781 CA6381736	63	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs145377957 CA231463801	65	S>I		No	ClinGen ESP TOPMed gnomAD
rs1281845180 CA383304210	66	R>C		No	ClinGen gnomAD
rs756078362 CA383304212	66	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6381738 rs756078362	66	R>L		No	ClinGen ExAC TOPMed gnomAD
rs368280492 CA6381740	70	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1251369965 CA383304277	71	T>I		No	ClinGen gnomAD
CA383304279 rs1483871160	72	T>P		No	ClinGen gnomAD
CA6381745 rs776883075	75	T>S		No	ClinGen ExAC gnomAD
rs3168640 CA383304459	86	C>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1169897593 CA383304484	88	S>C		No	ClinGen gnomAD
CA383304499 rs1431023706	89	N>K		No	ClinGen gnomAD
rs763414550 CA6381749	91	T>S		No	ClinGen ExAC gnomAD
CA383304553 rs766628142	93	L>M		No	ClinGen ExAC gnomAD
CA383304581 rs1437581181	95	L>I		No	ClinGen gnomAD
rs1013923540 CA231463856	98	L>F		No	ClinGen gnomAD
CA383304692 rs1297703753	103	P>L		No	ClinGen gnomAD
rs755841814 CA231463872	106	S>C		No	ClinGen Ensembl
CA383304746 rs1219829642	106	S>N		No	ClinGen gnomAD
rs1591541054 CA383304776	107	I>T		No	ClinGen Ensembl
CA6381754 rs752220721	107	I>V		No	ClinGen ExAC gnomAD
rs1451793795 CA383304794	108	P>A		No	ClinGen gnomAD
rs369558387 CA383304816	109	A>E		No	ClinGen ESP gnomAD
rs369558387 CA231463885	109	A>V		No	ClinGen ESP gnomAD
CA383304839 rs777835259	110	A>S		No	ClinGen ExAC TOPMed gnomAD
CA6381756 rs777835259	110	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1451353003 CA383304881	112	P>R		No	ClinGen gnomAD
rs1244121682 CA383304912	113	Q>R		No	ClinGen TOPMed
CA6381758 rs371331153	114	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1326024531 CA383305850	115	A>V		No	ClinGen gnomAD
rs958127813 CA383305861	116	P>L		No	ClinGen gnomAD
CA231463970 rs958127813	116	P>Q		No	ClinGen gnomAD
rs72647370 CA6381759	116	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs369737438 CA383305868	117	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6381760 rs369737438	117	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs369737438 CA231463972	117	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA231463980 rs11885	118	E>D		No	ClinGen gnomAD
CA6381762 rs776979119	119	P>S		No	ClinGen ExAC TOPMed gnomAD
CA6381763 rs776979119	119	P>T		No	ClinGen ExAC TOPMed gnomAD
CA6381765 rs773816207	120	H>P		No	ClinGen ExAC gnomAD
rs1364512368 CA383305911	120	H>Y		No	ClinGen TOPMed
CA6381766 rs763388743	121	R>W		No	ClinGen ExAC gnomAD
rs1446151417 CA383305948	122	E>K		No	ClinGen gnomAD
rs766866164 CA6381767	123	E>K		No	ClinGen ExAC gnomAD
CA231464035 rs924271543	125	V>A		No	ClinGen TOPMed
rs1290268340 CA383306022	125	V>M		No	ClinGen TOPMed
rs1459899880 CA383306042	126	T>N		No	ClinGen gnomAD
CA6381771 rs767218573	128	T>I		No	ClinGen ExAC gnomAD
rs760275979 CA6381773	129	A>G		No	ClinGen ExAC gnomAD
CA383306076 rs752345591	129	A>P		No	ClinGen ExAC gnomAD
rs752345591 CA6381772	129	A>T		No	ClinGen ExAC gnomAD
CA383306081 rs760275979	129	A>V		No	ClinGen ExAC gnomAD
CA383306093 rs1165161187	130	T>S		No	ClinGen gnomAD
CA6381774 rs763490893	131	S>C		No	ClinGen ExAC TOPMed gnomAD
CA383306142 rs1400453052	132	Q>R		No	ClinGen gnomAD
rs753342253 CA6381775	133	V>I		No	ClinGen ExAC TOPMed gnomAD
rs201485456 CA6381776	134	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1335573190 CA383306179	135	Q>E		No	ClinGen gnomAD
rs750301176 CA6381778	135	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs989897714 CA231464097	136	Q>R		No	ClinGen TOPMed
CA6381779 rs758263246	137	P>L		No	ClinGen ExAC TOPMed
rs1277355342 CA383306260	138	P>R		No	ClinGen TOPMed gnomAD
rs770006921 CA6381782	139	A>P		No	ClinGen ExAC gnomAD
CA6381784 rs749319217	140	A>G		No	ClinGen ExAC gnomAD
CA6381783 rs777744427	140	A>T		No	ClinGen ExAC TOPMed gnomAD
rs774829509 CA6381785	142	A>G		No	ClinGen ExAC gnomAD
rs1231436981 CA383306352	143	P>L		No	ClinGen TOPMed gnomAD
rs1231436981 CA383306354	143	P>R		No	ClinGen TOPMed gnomAD
CA6381787 rs772397148	143	P>S		No	ClinGen ExAC gnomAD
rs775265534 CA6381788	144	G>V		No	ClinGen ExAC gnomAD
CA383306378 rs1160450863	145	E>K		No	ClinGen gnomAD
CA383306475 rs1591541970	148	V>G		No	ClinGen Ensembl
CA6381790 rs34880640 VAR_041310	149	A>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1326246152 CA383306515	150	G>A		No	ClinGen TOPMed gnomAD
CA383306512 rs1326246152	150	G>D		No	ClinGen TOPMed gnomAD
rs1334855368 CA383306543	152	A>P		No	ClinGen gnomAD
CA231464172 rs929527481	152	A>V		No	ClinGen TOPMed gnomAD
rs765331494 CA6381793	153	P>L		No	ClinGen ExAC TOPMed gnomAD
CA231464202 rs940919645	155	T>N		No	ClinGen gnomAD
CA6381794 rs750354581	155	T>P		No	ClinGen ExAC gnomAD
rs758316219 CA6381795	156	V>I		No	ClinGen ExAC gnomAD
CA231464220 rs369532790	157	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs369532790 CA6381796	157	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6381797 rs751326754	158	S>C		No	ClinGen ExAC TOPMed gnomAD
rs751326754 CA383306637	158	S>G		No	ClinGen ExAC TOPMed gnomAD
CA231464226 rs920732487	158	S>T		No	ClinGen TOPMed gnomAD
rs1054763630 CA383306659	159	S>I		No	ClinGen TOPMed gnomAD
rs1054763630 CA383306656	159	S>N		No	ClinGen TOPMed gnomAD
CA231464231 rs1054763630	159	S>T		No	ClinGen TOPMed gnomAD
rs1198818336 CA383306669	160	T>A		No	ClinGen gnomAD
rs1378762054 CA383306697	161	S>N		No	ClinGen gnomAD
CA383306747 rs1468010379	163	D>H		No	ClinGen gnomAD
CA6381799 rs201939737	164	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770997482 CA383306816	165	P>S		No	ClinGen ExAC gnomAD
CA6381801 rs770997482	165	P>T		No	ClinGen ExAC gnomAD
rs1404149752 CA383306889	167	S>C		No	ClinGen gnomAD
rs1332815711 CA383306919	168	Q>H		No	ClinGen TOPMed gnomAD
CA383306943 rs1268492593	169	P>R		No	ClinGen gnomAD
rs779441437 CA6381802	169	P>S		No	ClinGen ExAC gnomAD
rs1341481294 CA383306967	170	S>N		No	ClinGen TOPMed gnomAD
rs772520982 CA6381804	172	V>A		No	ClinGen ExAC gnomAD
rs1012754203 CA231464358	174	S>N		No	ClinGen TOPMed gnomAD
CA383307071 rs536592144	174	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA383307214 rs1435492464	178	P>L		No	ClinGen gnomAD
rs773784514 CA231464361	179	P>S		No	ClinGen Ensembl
rs1389036068 CA383307237	180	P>L		No	ClinGen TOPMed gnomAD
CA383307235 rs1389036068	180	P>R		No	ClinGen TOPMed gnomAD
CA383307263 rs1449500315	182	R>K		No	ClinGen gnomAD
CA6381808 rs200468947	185	S>R		No	ClinGen ExAC gnomAD
rs1364589674 CA383307366	189	S>G		No	ClinGen gnomAD
CA383307379 rs1229285578	190	A>T		No	ClinGen gnomAD
rs1565377862 RCV000722889 CA383307406	191	K>*		No	ClinGen ClinVar Ensembl dbSNP
rs1299893238 CA383307416	191	K>M		No	ClinGen gnomAD
rs971232152 CA231464415	192	E>D		No	ClinGen TOPMed
CA6381813 rs72647372	193	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6381812 rs72647372	193	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1352309771 CA383307490	194	Q>H		No	ClinGen TOPMed
CA6381815 rs373400194	198	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs145316568 CA6381816	199	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs764293908 CA6381818	200	Q>L		No	ClinGen ExAC gnomAD
rs764293908 CA6381817	200	Q>P		No	ClinGen ExAC gnomAD
rs1247992569 CA383307666	201	Q>R		No	ClinGen gnomAD
rs757379223 CA6381819	202	D>N		No	ClinGen ExAC gnomAD
rs778989852 CA6381820	204	I>F		No	ClinGen ExAC gnomAD
CA6381821 rs745910207	204	I>T		No	ClinGen ExAC gnomAD
CA383307799 rs146461512	206	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1158109478 CA383307920	213	G>R		No	ClinGen gnomAD
rs1437174915 CA383307957	214	M>I		No	ClinGen gnomAD
rs1389353886 CA383307939	214	M>V		No	ClinGen TOPMed gnomAD
rs769033097 CA6381825	217	D>N		No	ClinGen ExAC gnomAD
rs1237396011 CA383308201	225	I>L		No	ClinGen gnomAD
rs1330504370 CA383308237	226	E>K		No	ClinGen gnomAD
CA383308433 rs1591543294	233	K>*		No	ClinGen Ensembl
CA6381830 rs762492680	234	T>M		No	ClinGen ExAC gnomAD
CA383308480 rs1591543352	235	V>G		No	ClinGen Ensembl
CA6381832 rs774337782	236	Y>C		No	ClinGen ExAC gnomAD
rs774337782 CA6381833	236	Y>F		No	ClinGen ExAC gnomAD
rs1173662547 CA383308526	237	K>R		No	ClinGen gnomAD
rs1271441635 CA383308593	241	T>A		No	ClinGen TOPMed
rs1458756092 CA383308602	241	T>S		No	ClinGen gnomAD
rs1591543459 CA383308651	243	T>N		No	ClinGen Ensembl
rs1591543482 CA383308735	247	V>G		No	ClinGen Ensembl
CA383308794 rs1591543519	250	C>G		No	ClinGen Ensembl
rs1465642095 CA383308865	253	Q>*		No	ClinGen gnomAD
rs748453620 CA6381846	255	R>Q		No	ClinGen ExAC gnomAD
CA383325149 rs1360896922	258	T>A		No	ClinGen gnomAD
CA6381847 rs769580189	260	S>C		No	ClinGen ExAC gnomAD
rs1204032792 CA383325406	290	T>I		No	ClinGen gnomAD
CA231463498 rs72648608	293	G>A		No	ClinGen Ensembl
CA383325430 rs1483819690	294	K>R		No	ClinGen gnomAD
CA231463525 rs111396516	305	T>A		No	ClinGen Ensembl
rs894110021 CA231463534	311	T>M		No	ClinGen TOPMed gnomAD
CA6381876 rs766443898 COSM3764446	319	M>I	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1406280473 CA383327573	326	S>R		No	ClinGen gnomAD
rs1332362306 CA383327810	343	P>L		No	ClinGen TOPMed
CA6381877 rs754625654	345	I>V		No	ClinGen ExAC TOPMed gnomAD
rs753222480 CA6381880	355	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1555112931 RCV000521386 CA383328137	363	S>L		No	ClinGen ClinVar Ensembl dbSNP
CA6381884 rs756942665	376	R>Q		No	ClinGen ExAC gnomAD
rs778373013 CA6381885	381	K>R		No	ClinGen ExAC gnomAD
CA383329087 rs1346046060	400	D>N		No	ClinGen TOPMed
rs72648631 CA231474651	403	V>I		No	ClinGen 1000Genomes
rs1591901128 CA383329294	411	C>Y		No	ClinGen Ensembl
rs1327616270 CA383329316	412	M>T		No	ClinGen TOPMed
CA383329551 rs1565489054	427	N>S		No	ClinGen Ensembl
CA383329588 rs1289960123 COSM1171941	429	A>V	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
CA383329670 rs1274350494	435	V>M		No	ClinGen gnomAD
rs1345747398 CA383329701	437	S>G		No	ClinGen gnomAD
CA6381954 rs753748481	449	I>V		No	ClinGen ExAC
CA383333573 rs1338682931	450	P>T		No	ClinGen TOPMed
CA6381955 rs757114444	454	E>Q		No	ClinGen ExAC gnomAD
CA231487400 rs1019057714	455	I>F		No	ClinGen Ensembl
rs1314164432 CA383333618	456	I>T		No	ClinGen TOPMed
CA6381958 rs768875867	465	D>H		No	ClinGen ExAC TOPMed gnomAD
CA383333714 rs1261145905	468	Y>H		No	ClinGen TOPMed
CA383333726 rs1292255174	469	S>C		No	ClinGen gnomAD
rs1292255174 CA383333727	469	S>F		No	ClinGen gnomAD
CA383333743 rs1367482516	472	D>N		No	ClinGen gnomAD
rs1441069884 CA383333784	477	A>V		No	ClinGen gnomAD
CA231489156 rs147477828	486	R>W		No	ClinGen ESP
rs750205260 COSM944756 CA6381973	492	E>D	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs750205260 COSM944756 CA383333889	492	E>D	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1219069942 CA383333915	496	E>G		No	ClinGen gnomAD
CA231489200 rs77244226	496	E>K		No	ClinGen Ensembl
CA231489225 rs76848073	498	I>L		No	ClinGen TOPMed
rs76848073 CA231489211	498	I>V		No	ClinGen TOPMed
CA6381975 rs748242620	500	I>V		No	ClinGen ExAC gnomAD
CA6381978 rs371869748	505	R>S		No	ClinGen ExAC gnomAD
rs34728563 CA6381979 VAR_041312	509	I>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6381981 rs746189208	516	Y>D		No	ClinGen ExAC TOPMed gnomAD
rs746189208 CA383334053	516	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA231489292 rs201678754	517	K>R		No	ClinGen Ensembl
CA383334083 rs1592050413	518	D>E		No	ClinGen Ensembl
rs1362327973 COSM3417300 CA383334182	525	S>Y	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA231489303 rs34408667 VAR_041313	527	D>G		No	ClinGen UniProt Ensembl dbSNP
CA6381984 rs771682835	530	R>S		No	ClinGen ExAC TOPMed gnomAD
rs3178414 CA231489307	531	D>N		No	ClinGen Ensembl
CA6381985 rs775207961	533	P>T		No	ClinGen ExAC gnomAD
CA383334320 rs1335393499	535	D>G		No	ClinGen gnomAD
CA6381987 rs763675447	535	D>H		No	ClinGen ExAC TOPMed gnomAD
CA231489335 rs145646194	536	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6381988 rs145646194	536	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
COSM696273 CA231489364 rs866991411	539	E>K	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1055516706 CA231490960	541	V>A		No	ClinGen Ensembl
CA6382005 rs768384690	541	V>I		No	ClinGen ExAC TOPMed gnomAD
CA383334528 rs1472548794	542	E>D		No	ClinGen gnomAD
rs1158641105 CA383334552	544	G>V		No	ClinGen gnomAD
CA383334637 rs1592058960	551	H>N		No	ClinGen Ensembl
rs1321276112 CA383334692	554	M>I		No	ClinGen TOPMed
CA6382007 rs761392920	559	K>R		No	ClinGen ExAC gnomAD
rs368508905 CA6382009	563	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
COSM550333 CA6382011 rs766215765	566	K>N	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1239598796 CA383334866	567	R>M		No	ClinGen gnomAD
rs1280224791 CA383334868	567	R>S		No	ClinGen TOPMed gnomAD
CA383334869 rs1280224791	567	R>S		No	ClinGen TOPMed gnomAD
CA383334925 rs1315682699	572	R>G		No	ClinGen TOPMed
rs1445894547 CA383334929	572	R>Q		No	ClinGen TOPMed
rs1592059193 CA383334960	574	L>F		No	ClinGen Ensembl
rs1397525381 CA383334972	575	V>A		No	ClinGen TOPMed
rs756361196 CA383334976	576	R>G		No	ClinGen ExAC TOPMed gnomAD
rs756361196 CA6382013 COSM432030	576	R>W	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs78462636 CA231491062	577	E>G		No	ClinGen Ensembl
CA231491095 rs376865437	578	E>D		No	ClinGen gnomAD
CA6382015 rs753979138	578	E>G		No	ClinGen ExAC gnomAD
CA6382014 rs764245463	578	E>K		No	ClinGen ExAC gnomAD
rs1183102590 CA383335012	579	Q>K		No	ClinGen TOPMed gnomAD
CA231491096 rs866572517	580	E>K		No	ClinGen TOPMed
CA6382019 rs373441841	582	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1172452532 CA383335085	583	K>R		No	ClinGen gnomAD
CA6382023 rs758783032	585	E>*		No	ClinGen ExAC
rs1041692730 CA231491162	585	E>D		No	ClinGen Ensembl
CA383335160 rs1395366895	588	S>I		No	ClinGen gnomAD
CA6382026 rs747271818	589	L>F		No	ClinGen ExAC gnomAD
rs747271818 CA6382025	589	L>V		No	ClinGen ExAC gnomAD
CA6382027 rs780986326 RCV000596317	590	K>R		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA383335191 rs1592059537	591	Q>K		No	ClinGen Ensembl
CA6382028 rs747700724	592	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA383335221 rs1330766185	593	V>I		No	ClinGen gnomAD
CA383335247 rs1434470278	595	Q>K		No	ClinGen gnomAD
CA231491219 rs757732497	597	S>I		No	ClinGen TOPMed
CA383335284 rs1236699407	597	S>R		No	ClinGen gnomAD
CA383335287 rs774207364	598	A>P		No	ClinGen ExAC gnomAD
CA6382033 rs774207364	598	A>T		No	ClinGen ExAC gnomAD
rs759314944 CA6382034	599	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1488189452 CA383335349	603	I>V		No	ClinGen TOPMed
rs764368160 CA6382035	604	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1380816668 CA383335394	606	L>H		No	ClinGen gnomAD
CA6382037 rs540823007	607	P>H		No	ClinGen ExAC gnomAD
rs1186230082 CA383335422	609	A>T		No	ClinGen TOPMed gnomAD
rs146450828 CA6382040	612	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6382041 rs370744884	614	P>L		No	ClinGen ESP ExAC gnomAD
CA231491293 rs370744884	614	P>R		No	ClinGen ESP ExAC gnomAD
rs752025827 CA6382042	615	T>N		No	ClinGen ExAC gnomAD
rs1404625722 CA383335534	618	T>A		No	ClinGen gnomAD
rs1325316305 CA383335538	618	T>I		No	ClinGen gnomAD
rs149388376 CA6382044	619	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747825454 CA383335593	623	V>F		No	ClinGen ExAC TOPMed gnomAD
rs747825454 CA6382045	623	V>I		No	ClinGen ExAC TOPMed gnomAD
CA6382046 rs769530791	625	T>A		No	ClinGen ExAC gnomAD
rs777339629 CA6382047	625	T>I		No	ClinGen ExAC gnomAD
rs1253444994 CA383335623	626	Q>E		No	ClinGen gnomAD
rs1213557619 CA383335758	635	D>Y		No	ClinGen gnomAD
CA383335879 rs1195061483	643	Q>R		No	ClinGen gnomAD
CA383335905 rs1366436798	645	P>S		No	ClinGen gnomAD
CA383335980 rs1165511823	650	L>F		No	ClinGen gnomAD
rs1004156281 CA231491370	651	S>P		No	ClinGen Ensembl
rs1431037264 CA383336091	654	T>A		No	ClinGen TOPMed
CA6382076 rs756692331	654	T>M		No	ClinGen ExAC TOPMed gnomAD
rs530397124 CA6382080	655	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA6382079 rs370488966	655	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6382082 rs770115218	656	D>V		No	ClinGen ExAC gnomAD
rs746751883 CA6382081	656	D>Y		No	ClinGen ExAC gnomAD
CA6382084 rs763139220	661	S>Y		No	ClinGen ExAC gnomAD
CA231492169 rs151131947	665	T>A		No	ClinGen ESP
VAR_019992 rs2286007 CA291634	665	T>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2286007 CA6382087	665	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA231492181 rs912398872	667	S>F		No	ClinGen gnomAD
CA383336250 rs1316944614	667	S>P		No	ClinGen gnomAD
CA383336263 rs753167766	668	R>P		No	ClinGen ExAC gnomAD
CA6382088 rs753167766	668	R>Q		No	ClinGen ExAC gnomAD
CA6382089 rs756433100	669	V>G		No	ClinGen ExAC TOPMed gnomAD
rs763848993 CA6382090	673	Q>H		No	ClinGen ExAC gnomAD
CA383336344 rs1249953042	674	T>R		No	ClinGen TOPMed gnomAD
rs528201274 CA6382093	678	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA383336393 rs1229011667	678	G>V		No	ClinGen gnomAD
CA383336404 rs1393568280	679	S>F		No	ClinGen gnomAD
CA383336406 rs1434263395	680	Q>K		No	ClinGen gnomAD
CA6382094 rs180681076	681	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA383336429 rs1174667117	681	H>R		No	ClinGen gnomAD
CA383336460 rs1286832459	683	Q>R		No	ClinGen TOPMed
CA383336484 rs1345771814	685	H>R		No	ClinGen TOPMed
CA383336480 rs1592063842	685	H>Y		No	ClinGen Ensembl
CA6382096 rs779955391	689	T>A		No	ClinGen ExAC TOPMed gnomAD
CA6382097 rs746843926	690	V>A		No	ClinGen ExAC TOPMed gnomAD
CA383336540 rs746843926	690	V>D		No	ClinGen ExAC TOPMed gnomAD
rs768310149 CA6382098	692	G>R		No	ClinGen ExAC gnomAD
rs776434045 CA6382099	693	H>L		No	ClinGen ExAC gnomAD
CA231492354 rs987140944	694	I>M		No	ClinGen TOPMed
rs61736905 CA6382100	694	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1223545784 CA383336595	695	P>A		No	ClinGen gnomAD
CA6382101 rs548555722	695	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1188719384 CA383336611	696	S>F		No	ClinGen TOPMed
rs1203524386 CA383336649	700	A>T		No	ClinGen gnomAD
rs759674901 CA6382103	700	A>V		No	ClinGen ExAC gnomAD
CA383336661 rs1179028652	701	Q>E		No	ClinGen gnomAD
rs1454009815 CA383336693	703	Q>H		No	ClinGen gnomAD
rs761152723 CA6382106	705	H>R		No	ClinGen ExAC TOPMed gnomAD
rs776111150 CA6382105	705	H>Y		No	ClinGen ExAC gnomAD
CA6382107 rs764390006	706	G>R		No	ClinGen ExAC TOPMed gnomAD
CA6382109 rs761380468	707	V>L		No	ClinGen ExAC gnomAD
rs1393034802 CA383336788	712	S>C		No	ClinGen gnomAD
CA6382403 rs575187599	714	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA383342906 rs1353814319	727	L>V		No	ClinGen gnomAD
CA383342940 rs1298005428	729	G>A		No	ClinGen TOPMed
CA383342947 rs1290299901	730	V>L		No	ClinGen gnomAD
rs202095662 CA6382406	732	S>P		No	ClinGen ExAC gnomAD
CA383342990 rs1214395075	734	Q>E		No	ClinGen gnomAD
rs760639105 CA6382409	735	P>H		No	ClinGen ExAC gnomAD
rs760639105 CA6382408	735	P>L		No	ClinGen ExAC gnomAD
rs757743246 CA6382411	736	I>T		No	ClinGen ExAC gnomAD
rs1471922569 CA383343024	737	Q>K		No	ClinGen gnomAD
CA383343035 rs1592112266	737	Q>P		No	ClinGen Ensembl
rs1163083984 CA383343044	738	H>Y		No	ClinGen gnomAD
CA231502361 rs1007068267	739	P>L		No	ClinGen TOPMed
CA383343078 rs1592112308	740	Q>H		No	ClinGen Ensembl
CA231502363 rs979483248	741	Q>R		No	ClinGen Ensembl
rs923708606 CA231474363	742	Q>H		No	ClinGen TOPMed
rs773041544 CA6382421	742	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA383325568 rs1290157519	743	Q>E		No	ClinGen gnomAD
CA383325601 rs1399470508	747	Q>H		No	ClinGen gnomAD
rs556544822 CA383325616	750	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA6382422 rs556544822	750	P>T		No	ClinGen 1000Genomes ExAC gnomAD
CA6382423 rs772348459	752	Q>K		No	ClinGen ExAC gnomAD
rs775676212 CA6382424	753	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs760894152 CA6382425	755	V>E		No	ClinGen ExAC gnomAD
rs1444380006 CA383325646	755	V>M		No	ClinGen gnomAD
rs138392972 CA6382429	756	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6382427 rs776731718	756	Q>R		No	ClinGen ExAC gnomAD
CA6382430 rs750855214	757	Y>C		No	ClinGen ExAC gnomAD
rs530828395 CA231474431	762	T>R		No	ClinGen 1000Genomes
rs1177212201 CA383325698	763	S>L		No	ClinGen gnomAD
rs1462814361 CA383325695	763	S>P		No	ClinGen TOPMed gnomAD
rs143890340 CA383325700	764	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs754623220 CA6382434	765	S>C		No	ClinGen ExAC TOPMed gnomAD
CA6382435 rs780592488	766	S>G		No	ClinGen ExAC gnomAD
CA231474439 rs375358078	766	S>I		No	ClinGen Ensembl
rs1592141438 CA383325715	766	S>R		No	ClinGen Ensembl
CA383325716 rs1176511896	767	E>K		No	ClinGen gnomAD
rs757239881 CA6382437	768	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6382438 rs777684791	770	T>A		No	ClinGen ExAC gnomAD
rs1299113005 CA383325768	775	S>N		No	ClinGen gnomAD
rs1012729 CA6382443	776	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA231474460 rs1012729	776	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs72649880 CA231474481	778	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs72649879 CA231474468	778	Q>P		No	ClinGen TOPMed
COSM1232789 rs761919358 CA6382445	779	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA383325801 rs1308626677	781	Q>E		No	ClinGen TOPMed
rs1224692820 CA383325803	781	Q>R		No	ClinGen TOPMed
CA383325808 rs763491786	782	V>I		No	ClinGen ExAC gnomAD
CA6382448 rs763491786	782	V>L		No	ClinGen ExAC gnomAD
CA6382449 rs766885698	783	L>F		No	ClinGen ExAC gnomAD
CA383325816 rs1345226249	783	L>S		No	ClinGen TOPMed
rs1179248663 CA383325820	784	P>S		No	ClinGen TOPMed gnomAD
rs1407348475 CA383325837	786	V>A		No	ClinGen TOPMed
CA231474503 rs72649882	789	G>R		No	ClinGen Ensembl
rs1338926149 CA383325893	793	P>T		No	ClinGen TOPMed
CA231475141 rs1011726021	795	S>P		No	ClinGen gnomAD
rs1592147251 CA383325915	796	Q>P		No	ClinGen Ensembl
CA383325928 rs1429902118	798	V>A		No	ClinGen gnomAD
CA383325933 rs1162478855	799	P>R		No	ClinGen gnomAD
CA231475146 rs150793303	799	P>S		No	ClinGen ESP TOPMed gnomAD
CA6382474 rs368962063	800	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs781469320 CA6382476	801	I>M		No	ClinGen ExAC gnomAD
CA6382475 rs139449198 RCV000508056	801	I>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA383325952 rs1592147365	802	Q>H		No	ClinGen Ensembl
CA231475151 rs1033391607	804	E>K		No	ClinGen gnomAD
CA383325973 rs1161814757	806	Q>E		No	ClinGen gnomAD
rs991871911 CA231475153	808	P>L		No	ClinGen gnomAD
CA6382477 rs748230461	808	P>S		No	ClinGen ExAC gnomAD
rs770002621 CA383326000	810	A>E		No	ClinGen ExAC TOPMed gnomAD
CA6382478 rs770002621	810	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1592147527 CA383326015	812	Q>H		No	ClinGen Ensembl
rs1592147527 CA383326014	812	Q>H		No	ClinGen Ensembl
rs1247088756 CA383326011	812	Q>L		No	ClinGen gnomAD
rs945334157 CA231475183	817	P>A		No	ClinGen TOPMed
CA6382480 rs373157244	818	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6382483 rs759942938	819	H>L		No	ClinGen ExAC TOPMed gnomAD
CA6382484 rs767134352	819	H>Q		No	ClinGen ExAC gnomAD
rs759942938 CA231475194	819	H>R		No	ClinGen ExAC TOPMed gnomAD
CA6382485 rs74056058	820	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6382488 rs753295766	826	P>S		No	ClinGen ExAC gnomAD
CA383326111 rs1432910896	829	Q>*		No	ClinGen gnomAD
CA6382492 rs575889688	830	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6382491 rs575889688	830	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA231475260 rs866634105	831	L>H		No	ClinGen Ensembl
CA383326126 rs748416681	832	P>A		No	ClinGen ExAC TOPMed gnomAD
CA6382494 rs748416681	832	P>S		No	ClinGen ExAC TOPMed gnomAD
CA6382495 rs756358883	833	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1352200471 CA383326130	833	T>P		No	ClinGen gnomAD
rs1352200471 CA383326132	833	T>S		No	ClinGen gnomAD
rs1285512701 CA383326140	834	P>L		No	ClinGen gnomAD
rs778051231 CA6382497	837	P>H		No	ClinGen ExAC gnomAD
CA6382496 rs778051231	837	P>L		No	ClinGen ExAC gnomAD
CA231475272 rs867752320	838	Q>*		No	ClinGen Ensembl
CA383326170 rs1592147989	839	Y>F		No	ClinGen Ensembl
rs1407961093 CA383326166	839	Y>H		No	ClinGen TOPMed
CA383326174 rs774909645	840	P>A		No	ClinGen ExAC gnomAD
CA6382500 rs564277838	840	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs774909645 CA6382499	840	P>S		No	ClinGen ExAC gnomAD
CA6382501 rs772490082	841	V>F		No	ClinGen ExAC TOPMed gnomAD
rs772490082 CA383326177	841	V>I		No	ClinGen ExAC TOPMed gnomAD
CA6382502 rs775677046	842	S>A		No	ClinGen ExAC TOPMed gnomAD
CA231475283 rs1051812671	843	Q>R		No	ClinGen TOPMed gnomAD
rs1470408956 CA383326203	845	P>R		No	ClinGen gnomAD
CA6382504 rs763713337	845	P>S		No	ClinGen ExAC gnomAD
CA6382506 rs761305728	846	I>M		No	ClinGen ExAC TOPMed gnomAD
rs145524793 CA6382505	846	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1592148190 CA383326213	847	S>A		No	ClinGen Ensembl
rs1592148208 CA383326219	848	T>S		No	ClinGen Ensembl
rs765891408 CA231475328	849	P>L		No	ClinGen Ensembl
CA6382507 rs540294135	849	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1157388137 CA383326231	850	H>R		No	ClinGen TOPMed
rs750383748 CA6382508	851	V>L		No	ClinGen ExAC gnomAD
rs752785162 CA6382509	853	T>A		No	ClinGen ExAC TOPMed gnomAD
CA231475341 rs1003404300	854	A>G		No	ClinGen TOPMed gnomAD
CA383326254 rs1003404300	854	A>V		No	ClinGen TOPMed gnomAD
CA383326259 rs1182258583	855	Q>R		No	ClinGen gnomAD
CA383326270 rs1197415012	857	G>D		No	ClinGen gnomAD
CA6382514 rs754032018	857	G>S		No	ClinGen ExAC gnomAD
CA383326271 rs1197415012	857	G>V		No	ClinGen gnomAD
CA6382516 rs778792291	859	S>L		No	ClinGen ExAC gnomAD
rs757372764 CA6382515	859	S>P		No	ClinGen ExAC gnomAD
rs1398291260 CA383326301	862	P>R		No	ClinGen gnomAD
rs747342146 CA6382520	868	G>D		No	ClinGen ExAC gnomAD
rs768361823 CA6382521	871	Q>E		No	ClinGen ExAC gnomAD
rs1244117097 CA383326364	872	P>S		No	ClinGen gnomAD
rs761395426 CA6382523	874	L>F		No	ClinGen ExAC gnomAD
rs529032048 CA6382524	875	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1338334439 CA383326406	879	S>F		No	ClinGen TOPMed gnomAD
CA383326419 rs1449618080	882	T>A		No	ClinGen gnomAD
rs899384881 CA231475400	883	A>D		No	ClinGen TOPMed gnomAD
rs899384881 CA383326427	883	A>V		No	ClinGen TOPMed gnomAD
rs1269435010 CA383326431	884	A>T		No	ClinGen gnomAD
CA6382529 rs759393178	884	A>V		No	ClinGen ExAC TOPMed gnomAD
rs188150332 CA6382534	886	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs569121553 CA6382532	886	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1403898430 CA383326447	887	G>E		No	ClinGen gnomAD
rs747428198 CA6382537	888	V>A		No	ClinGen ExAC TOPMed gnomAD
CA383326453 rs747428198	888	V>G		No	ClinGen ExAC TOPMed gnomAD
CA383326450 rs1303086844	888	V>L		No	ClinGen gnomAD
CA383326461 rs781465541	890	T>A		No	ClinGen ExAC gnomAD
rs747863248 CA6382540	890	T>I		No	ClinGen ExAC gnomAD
CA6382539 rs781465541	890	T>P		No	ClinGen ExAC gnomAD
rs769313429 CA6382541	891	V>M		No	ClinGen ExAC gnomAD
rs772823098 CA6382542	892	V>G		No	ClinGen ExAC gnomAD
rs1271521916 CA383326471	892	V>L		No	ClinGen gnomAD
rs1206597194 CA383326476	893	P>A		No	ClinGen TOPMed
CA6382543 rs762367651	893	P>L		No	ClinGen ExAC TOPMed gnomAD
CA383326482 rs1268502587	894	S>G		No	ClinGen TOPMed
rs977764414 CA383326502	897	P>S		No	ClinGen TOPMed
rs977764414 CA231475446	897	P>T		No	ClinGen TOPMed
rs777908830 CA383326507	898	T>A		No	ClinGen ExAC TOPMed gnomAD
CA383326506 rs777908830	898	T>P		No	ClinGen ExAC TOPMed gnomAD
rs777908830 CA6382545	898	T>S		No	ClinGen ExAC TOPMed gnomAD
rs759481167 CA6382546	899	L>F		No	ClinGen ExAC gnomAD
rs58098079 CA231475455	902	P>H		No	ClinGen Ensembl
rs762143634 CA6382549	904	T>I		No	ClinGen ExAC gnomAD
rs1163329038 CA383326570	908	S>R		No	ClinGen gnomAD
rs1333892717 CA383326583	910	V>G		No	ClinGen TOPMed
CA231475462 rs866924313	912	P>L		No	ClinGen TOPMed
rs1427080573 CA383326599	913	Q>*		No	ClinGen gnomAD
CA6382551 rs750580956	913	Q>H		No	ClinGen ExAC gnomAD
CA6382554 rs752063279	915	L>P		No	ClinGen ExAC TOPMed gnomAD
CA6382553 rs766385883	915	L>V		No	ClinGen ExAC gnomAD
CA231475482 rs974609579	916	Q>*		No	ClinGen Ensembl
rs755434194 CA6382555	916	Q>L		No	ClinGen ExAC gnomAD
rs868061428 CA231475489	917	P>L		No	ClinGen Ensembl
rs1315446049 CA383326631	919	V>I		No	ClinGen gnomAD
rs921761535 CA231475498	922	M>V		No	ClinGen Ensembl
rs781555619 CA6382556	923	G>R		No	ClinGen ExAC TOPMed gnomAD
CA6382558 rs755864750	924	I>L		No	ClinGen ExAC gnomAD
CA6382559 rs777281074	925	P>Q		No	ClinGen ExAC gnomAD
CA6382561 rs770571697	928	L>P		No	ClinGen ExAC gnomAD
rs1460133195 CA383326697	929	G>E		No	ClinGen gnomAD
rs376237903 CA6382562	930	Q>R		No	ClinGen ESP ExAC gnomAD
rs1244169641 CA383326711	931	A>G		No	ClinGen gnomAD
CA383326707 rs1450291072	931	A>T		No	ClinGen TOPMed
CA6382564 rs772112752	935	P>S		No	ClinGen ExAC gnomAD
rs1363656797 CA383326754	938	S>C		No	ClinGen gnomAD
CA383326774 rs1209146414	941	V>D		No	ClinGen TOPMed
CA383326773 rs1209146414	941	V>G		No	ClinGen TOPMed
rs147955175 CA6382566	944	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA383326812 rs1481141626	946	F>L		No	ClinGen gnomAD
rs753149891 CA383326819	947	P>A		No	ClinGen ExAC TOPMed gnomAD
rs761206171 CA6382593	947	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA383326820 rs753149891	947	P>S		No	ClinGen ExAC TOPMed gnomAD
rs932461182 CA231476010	948	P>A		No	ClinGen TOPMed
CA231476012 rs1051000166	948	P>R		No	ClinGen TOPMed
CA6382595 rs754209005 COSM944855	949	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC
rs1431038794 CA383326838	951	P>S		No	ClinGen TOPMed gnomAD
CA383326844 rs1475854150	952	P>S		No	ClinGen TOPMed
rs1180144652 CA383326868	955	P>R		No	ClinGen TOPMed
rs537896375 CA6382599	956	G>A		No	ClinGen 1000Genomes ExAC gnomAD
CA6382600 rs779546840	959	N>S		No	ClinGen ExAC
rs1484048633 CA383326908	961	A>V		No	ClinGen TOPMed
CA6382601 rs746948660	962	P>R		No	ClinGen ExAC TOPMed gnomAD
rs768585422 CA6382602	963	S>F		No	ClinGen ExAC gnomAD
rs1209509244 CA383326915	963	S>T		No	ClinGen TOPMed
rs747935613 CA6382604	965	N>D		No	ClinGen ExAC gnomAD
CA383326928 rs771204045	965	N>S		No	ClinGen ExAC TOPMed gnomAD
CA6382605 rs771204045	965	N>T		No	ClinGen ExAC TOPMed gnomAD
CA10604864 RCV000407686 rs886042915	966	V>M		No	ClinGen ClinVar dbSNP gnomAD
CA6382607 rs759691011	968	S>Y		No	ClinGen ExAC gnomAD
rs374035700 CA231476064	969	V>I		No	ClinGen Ensembl
CA6382608 rs772077110	971	I>V		No	ClinGen ExAC gnomAD
CA231476072 rs1032036522	972	H>R		No	ClinGen Ensembl
CA383326985 rs1287606802	975	V>I		No	ClinGen TOPMed
CA383327030 rs1388117854	982	T>S		No	ClinGen TOPMed
CA383327040 rs995813769	983	E>D		No	ClinGen gnomAD
CA6382615 rs377242632	985	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs758081323 CA6382617	985	L>P		No	ClinGen ExAC gnomAD
rs377242632 CA6382616	985	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1384581028 CA383327058	987	T>A		No	ClinGen gnomAD
rs779451133 CA6382618	987	T>I		No	ClinGen ExAC gnomAD
rs1028934233 CA231476106	988	P>S		No	ClinGen Ensembl
CA231476108 rs760726263	989	G>A		No	ClinGen gnomAD
CA383327069 rs760726263	989	G>E		No	ClinGen gnomAD
CA383327072 rs1592153290	990	Y>D		No	ClinGen Ensembl
CA6382619 rs751055211	992	P>A		No	ClinGen ExAC gnomAD
rs1288514591 CA383327092	993	T>A		No	ClinGen gnomAD
rs754908616 CA383327104	995	V>L		No	ClinGen ExAC gnomAD
rs754908616 CA6382620	995	V>L		No	ClinGen ExAC gnomAD
CA383327103 rs754908616	995	V>M		No	ClinGen ExAC gnomAD
rs748023236 CA6382622	1001	S>L		No	ClinGen ExAC gnomAD
rs769585420 CA6382623	1002	N>D		No	ClinGen ExAC gnomAD
CA6382624 rs777505065	1003	L>F		No	ClinGen ExAC gnomAD
rs1292582284 CA383327170	1005	V>F		No	ClinGen gnomAD
rs1292582284 CA383327169	1005	V>L		No	ClinGen gnomAD
CA6382627 rs191295023	1007	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs954615875 CA231477371	1007	M>T		No	ClinGen Ensembl
CA231477373 rs987743840	1009	G>D		No	ClinGen Ensembl
CA383327191 rs1592153571	1009	G>S		No	ClinGen Ensembl
rs760802641 CA6382628	1010	V>I		No	ClinGen ExAC gnomAD
rs750516612 CA231477377	1012	G>E		No	ClinGen gnomAD
CA383327209 rs750516612	1012	G>V		No	ClinGen gnomAD
CA6382630 rs777291667	1013	Q>E		No	ClinGen ExAC gnomAD
rs907697539 CA231477380	1018	Q>H		No	ClinGen TOPMed
CA6382633 rs773659432	1021	G>R		No	ClinGen ExAC gnomAD
CA383327268 rs1158451078	1022	S>C		No	ClinGen gnomAD
CA231477386 rs995676091	1026	A>T		No	ClinGen TOPMed
CA6382638 rs754533334	1027	P>A		No	ClinGen ExAC gnomAD
rs1405830528 CA383327305	1027	P>L		No	ClinGen gnomAD
rs754533334 CA383327302	1027	P>S		No	ClinGen ExAC gnomAD
CA383327313 rs1286536747	1029	T>A		No	ClinGen gnomAD
rs755998245 CA6382641	1030	S>F		No	ClinGen ExAC TOPMed gnomAD
rs777594642 CA6382642	1031	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1490866479 CA383327333	1032	Q>H		No	ClinGen gnomAD
CA6382643 rs749053498	1032	Q>R		No	ClinGen ExAC gnomAD
rs758615529 CA6382644	1033	Q>H		No	ClinGen ExAC gnomAD
rs573232975 CA6382645	1034	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1172075984 CA383327349	1035	V>I		No	ClinGen TOPMed
CA383327444 rs1171734770	1038	S>N		No	ClinGen gnomAD
rs1290510851 CA383327471	1040	Q>H		No	ClinGen TOPMed
CA383327478 rs1431347205	1041	G>E		No	ClinGen TOPMed
CA6382672 rs759283106	1043	S>C		No	ClinGen ExAC gnomAD
rs771682168 CA6382673	1044	Q>K		No	ClinGen ExAC gnomAD
CA383327533 rs1438201345	1046	A>V		No	ClinGen gnomAD
rs1358137494 CA383327569	1050	P>S		No	ClinGen TOPMed
rs760167067 CA6382675	1051	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1592157115 CA383327578	1051	V>I		No	ClinGen Ensembl
CA6382676 rs763536137	1052	A>V		No	ClinGen ExAC
rs1214940486 CA383327606	1054	A>T		No	ClinGen gnomAD
rs1024757118 CA231477690	1054	A>V		No	ClinGen TOPMed
rs1276763767 CA383327622	1055	Q>R		No	ClinGen gnomAD
rs956868 VAR_059033 CA6382677	1056	T>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs956868 CA383327631	1056	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765102074 CA6382679	1057	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1268304631 CA383327646	1057	Q>R		No	ClinGen gnomAD
CA6382680 rs750159327	1058	A>G		No	ClinGen ExAC gnomAD
CA6382681 rs755286401	1059	T>I		No	ClinGen ExAC gnomAD
rs886049924 CA383327661	1059	T>P		No	ClinGen gnomAD
CA6382684 rs756270744	1061	P>L		No	ClinGen ExAC TOPMed gnomAD
rs752879359 CA6382683	1061	P>T		No	ClinGen ExAC gnomAD
CA6382685 rs777677222	1062	T>I		No	ClinGen ExAC
CA6382687 rs201379287	1063	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA383327716 rs1315871370	1064	L>W		No	ClinGen gnomAD
CA6382688 rs369772732	1065	A>S		No	ClinGen ESP ExAC gnomAD
CA6382689 rs746216756	1067	S>P		No	ClinGen ExAC TOPMed gnomAD
CA6382690 rs538266658	1068	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA6382691 rs775135848	1069	D>H		No	ClinGen ExAC gnomAD
rs376433723 CA6382717	1072	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA6382718 rs766303097	1072	H>Q		No	ClinGen ExAC gnomAD
rs774268901 CA6382719	1074	D>G		No	ClinGen ExAC gnomAD
CA6382721 rs764218387	1077	S>P		No	ClinGen ExAC gnomAD
rs1334103392 CA383327914	1079	M>T		No	ClinGen TOPMed
rs1441984543 CA383327909	1079	M>V		No	ClinGen gnomAD
COSM944904 rs1469151944 CA383327925	1080	S>N	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1307505496 CA383327946	1082	G>S		No	ClinGen TOPMed gnomAD
rs757299559 CA6382723	1083	N>S		No	ClinGen ExAC gnomAD
CA383327984 rs1305673136	1084	E>D		No	ClinGen TOPMed
rs765292205 CA6382724	1085	N>S		No	ClinGen ExAC gnomAD
rs750958116 CA6382725	1086	V>I		No	ClinGen ExAC gnomAD
rs144704075 CA6382727	1087	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs542910952 CA6382726	1087	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA6382729 rs747339883	1088	S>C		No	ClinGen ExAC TOPMed gnomAD
CA6382728 rs747339883	1088	S>F		No	ClinGen ExAC TOPMed gnomAD
CA6382730 rs780692513	1090	S>I		No	ClinGen ExAC TOPMed gnomAD
CA383328044 rs1565575135	1091	G>R		No	ClinGen Ensembl
CA383328052 rs1247347642	1092	R>G		No	ClinGen gnomAD
CA383328099 rs1457684803	1096	R>K		No	ClinGen TOPMed
CA6382732 rs138216561	1098	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA383328134 rs1250342922	1099	K>E		No	ClinGen TOPMed gnomAD
CA6382734 rs749290305	1100	R>Q		No	ClinGen ExAC gnomAD
rs750612826 COSM944906 CA6382733	1100	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1197582355 CA383328153	1101	H>Y		No	ClinGen gnomAD
CA383328183 rs1479888138	1103	R>G		No	ClinGen gnomAD
rs759393010 CA6382737	1103	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA231477832 rs932264842	1106	V>G		No	ClinGen TOPMed
CA6382740 rs199611881	1106	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA383328245 rs1410571220	1108	S>G		No	ClinGen gnomAD
CA383328262 rs1309903063	1109	R>C		No	ClinGen TOPMed gnomAD
rs758943086 CA6382743	1110	S>F		No	ClinGen ExAC gnomAD
rs1051081383 CA231477837	1111	R>*		No	ClinGen TOPMed
rs766862807 CA6382744	1111	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1274017950 CA383328329	1115	T>S		No	ClinGen gnomAD
CA6382745 rs751974876	1116	S>L		No	ClinGen ExAC gnomAD
rs770382819 CA231477840	1117	R>C		No	ClinGen gnomAD
CA231477843 rs755308166	1117	R>H		No	ClinGen ExAC gnomAD
rs755308166 CA6382746	1117	R>L		No	ClinGen ExAC gnomAD
rs1191418617 CA383328380	1120	L>*		No	ClinGen gnomAD
CA6382749 rs146034789	1124	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6382750 rs146034789	1124	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1484672765 CA383328517	1125	V>F		No	ClinGen gnomAD
rs559042317 CA6382758	1128	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA6382760 rs527865856	1138	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA6382762 rs752063280	1142	R>K		No	ClinGen ExAC gnomAD
CA6382764 rs767824819	1150	D>N		No	ClinGen ExAC gnomAD
CA6382767 rs777555339	1157	E>K		No	ClinGen ExAC gnomAD
CA231478368 rs267603707	1169	I>T		No	ClinGen Ensembl
CA383328878 rs1482148953	1170	L>P		No	ClinGen gnomAD
rs1482148953 CA383328874	1170	L>R		No	ClinGen gnomAD
CA6382794 rs142181848	1170	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA383328895 rs1473714633	1172	I>T		No	ClinGen gnomAD
rs780023691 CA6382796	1172	I>V		No	ClinGen ExAC TOPMed gnomAD
CA383328905 rs1424926783	1173	E>G		No	ClinGen TOPMed gnomAD
rs1353252736 CA383328971	1179	D>N		No	ClinGen gnomAD
COSM1747281 CA6382799 rs749563110	1182	R>Q	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs771113896 CA6382800	1188	A>S		No	ClinGen ExAC TOPMed
rs372060006 CA6382801	1189	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs139115390 CA6382802	1193	S>G		No	ClinGen ESP ExAC gnomAD
CA383329171 rs1592165028	1195	D>E		No	ClinGen Ensembl
CA383329194 rs1592165053	1197	S>I		No	ClinGen Ensembl
CA383329224 rs1341335274	1200	P>A		No	ClinGen gnomAD
rs1478546989 CA383329253	1202	G>D		No	ClinGen TOPMed
rs1205732954 CA383329262	1203	D>A		No	ClinGen gnomAD
rs1209777376 CA383329302	1207	E>Q		No	ClinGen TOPMed
rs764937901 CA6382807	1207	E>V		No	ClinGen ExAC TOPMed
CA6382808 rs749955344	1211	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1246337431 CA383329358	1212	K>E		No	ClinGen gnomAD
rs1193267262 CA383329377	1213	D>E		No	ClinGen gnomAD
rs1418043460 CA383329389	1214	D>A		No	ClinGen TOPMed gnomAD
rs1429709600 CA383329403	1215	Y>C		No	ClinGen gnomAD
rs757939257 CA6382809	1216	G>D		No	ClinGen ExAC gnomAD
CA6382810 rs765738823	1218	S>L		No	ClinGen ExAC gnomAD
CA383329453 rs1341279892	1219	G>D		No	ClinGen TOPMed
rs267603708 CA231478419	1220	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs1380467638 CA383329513	1222	K>T		No	ClinGen gnomAD
rs1351174128 CA383329585	1227	F>L		No	ClinGen TOPMed
CA6382825 rs762251501	1228	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1283709669 CA383329620	1230	P>Q		No	ClinGen gnomAD
rs765934842 CA6382829	1234	S>P		No	ClinGen ExAC gnomAD
rs1486847041 CA383329675	1235	S>F		No	ClinGen gnomAD
CA231478593 rs568133374	1236	M>V		No	ClinGen 1000Genomes TOPMed
rs1205651013 CA383329722	1239	Q>R		No	ClinGen gnomAD
CA383329752 rs1254282363	1241	G>D		No	ClinGen TOPMed
rs1443695839 CA383329755	1242	I>F		No	ClinGen gnomAD
CA6382850 rs762713931	1243	P>R		No	ClinGen ExAC gnomAD
rs552505348 CA6382851	1244	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1472734385 CA383329769	1244	T>I		No	ClinGen gnomAD
CA6382852 rs773910442	1245	S>G		No	ClinGen ExAC gnomAD
rs939487965 CA231478739	1251	V>I		No	ClinGen Ensembl
CA383329815 rs1484136744	1252	H>N		No	ClinGen TOPMed
CA231478743 rs1056922971	1257	R>Q		No	ClinGen gnomAD
CA6382853 rs759061327	1266	S>G		No	ClinGen ExAC gnomAD
rs766946869 CA6382854	1267	R>Q		No	ClinGen ExAC gnomAD
CA6382855 rs752666383	1268	L>S		No	ClinGen ExAC gnomAD
CA383329919 rs1404252218	1268	L>V		No	ClinGen TOPMed gnomAD
rs574104473 CA6382857	1269	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753548223 CA6382858	1271	S>A		No	ClinGen ExAC gnomAD
rs758710971 CA6382859	1272	K>E		No	ClinGen ExAC gnomAD
rs780407738 CA383329946	1272	K>N		No	ClinGen ExAC gnomAD
CA383329964 rs1315929955	1275	P>S		No	ClinGen TOPMed
CA6382864 rs748686414	1281	T>I		No	ClinGen ExAC gnomAD
rs770176317 CA6382865	1282	V>L		No	ClinGen ExAC TOPMed
CA6382885 rs373451256	1283	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA383330056 rs1457618726	1288	Q>E		No	ClinGen gnomAD
rs745573082 CA6382888	1293	N>Y		No	ClinGen ExAC gnomAD
CA383330123 rs1299382643	1297	S>C		No	ClinGen gnomAD
CA231478963 rs763724532	1301	L>F		No	ClinGen Ensembl
rs1167841790 CA383330146	1301	L>R		No	ClinGen TOPMed
CA231478969 rs773117623	1311	R>T		No	ClinGen ExAC TOPMed gnomAD
rs759875909 CA6382897	1312	R>C		No	ClinGen ExAC TOPMed gnomAD
rs375565845 CA6382898	1312	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA383330222 rs1207852609	1313	A>D		No	ClinGen gnomAD
rs1224139425 CA383330241	1315	M>I		No	ClinGen gnomAD
CA231478984 rs867339979	1319	P>L		No	ClinGen gnomAD
rs867339979 CA383330266	1319	P>R		No	ClinGen gnomAD
CA383330269 rs1180000369	1320	N>D		No	ClinGen gnomAD
CA383330301 rs1256263316	1325	N>D		No	ClinGen TOPMed
CA383330312 rs1423254785	1326	F>C		No	ClinGen gnomAD
rs764193532 COSM696202 CA6382901	1329	T>A	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1490023753 CA383330335	1329	T>I		No	ClinGen TOPMed gnomAD
CA383330351 rs1157323165 COSM1513719	1332	T>I	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs541776516 CA231479003	1335	V>I		No	ClinGen Ensembl
CA231479007 rs779292951	1338	P>H		No	ClinGen ExAC TOPMed gnomAD
rs779292951 CA6382904	1338	P>R		No	ClinGen ExAC TOPMed gnomAD
rs746228923 CA6382905	1339	F>S		No	ClinGen ExAC gnomAD
CA383330402 rs1252163293	1341	S>G		No	ClinGen gnomAD
CA383330406 rs1301534353	1341	S>N		No	ClinGen gnomAD
CA383330412 rs1377892864	1342	S>N		No	ClinGen gnomAD
CA383330426 rs1592171702	1344	A>S		No	ClinGen Ensembl
rs140473724 CA6382906	1344	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs779584045 CA6382907	1345	G>R		No	ClinGen ExAC gnomAD
rs925653592 CA231479016	1346	V>I		No	ClinGen TOPMed
rs776157014 CA6382910	1350	A>T		No	ClinGen ExAC gnomAD
rs1318448283 CA383330459	1350	A>V		No	ClinGen gnomAD
CA6382911 rs748085072	1351	A>P		No	ClinGen ExAC gnomAD
CA383330483 rs1259923870	1354	A>V		No	ClinGen gnomAD
rs1013848951 CA231479027	1359	T>K		No	ClinGen TOPMed gnomAD
CA383330534 rs1592171945	1362	P>R		No	ClinGen Ensembl
rs773207256 CA6382914	1363	P>H		No	ClinGen ExAC gnomAD
rs773207256 CA383330538	1363	P>R		No	ClinGen ExAC gnomAD
CA6382915 rs762856906	1364	N>Y		No	ClinGen ExAC gnomAD
rs1402800967 CA383330553	1365	D>E		No	ClinGen TOPMed gnomAD
CA383330547 rs1418392646	1365	D>Y		No	ClinGen gnomAD
rs534565611 CA6382917	1366	I>M		No	ClinGen 1000Genomes ExAC gnomAD
CA383330576 rs1466139017	1369	S>L		No	ClinGen gnomAD
CA6382919 rs764132647	1375	V>F		No	ClinGen ExAC gnomAD
CA383330613 rs764132647	1375	V>I		No	ClinGen ExAC gnomAD
CA6382921 rs574069625	1377	V>E		No	ClinGen 1000Genomes ExAC gnomAD
rs902552433 CA231479051	1377	V>M		No	ClinGen TOPMed gnomAD
CA6382923 rs750868201	1378	P>L		No	ClinGen ExAC gnomAD
CA6382924 rs758763241	1379	T>A		No	ClinGen ExAC TOPMed gnomAD
CA383330638 rs1201048509	1380	E>K		No	ClinGen TOPMed
CA231479069 rs999522221	1383	I>V		No	ClinGen TOPMed gnomAD
rs1592172239 CA383330667 COSM1188416	1384	A>S	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
CA383330676 rs1391802517	1385	G>A		No	ClinGen gnomAD
rs751190332 CA6382926	1386	V>L		No	ClinGen ExAC gnomAD
rs780606468 CA383330693	1388	T>I		No	ClinGen ExAC gnomAD
rs780606468 CA6382928	1388	T>S		No	ClinGen ExAC gnomAD
CA383330698 rs1226824823	1389	S>I		No	ClinGen TOPMed
rs146024504 CA6382929	1390	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA6382930 rs769373261	1391	G>D		No	ClinGen ExAC gnomAD
rs1471388401 CA383330709	1391	G>S		No	ClinGen gnomAD
CA231479093 rs998039518	1396	G>D		No	ClinGen Ensembl
CA383330747 rs1246382496	1397	G>D		No	ClinGen TOPMed
CA6382932 rs777860000	1399	P>L		No	ClinGen ExAC gnomAD
CA6382931 rs777860000	1399	P>R		No	ClinGen ExAC gnomAD
CA6382933 rs770654637	1400	I>T		No	ClinGen ExAC gnomAD
rs774176953 CA383330767	1401	P>A		No	ClinGen ExAC TOPMed gnomAD
rs774176953 CA6382934	1401	P>S		No	ClinGen ExAC TOPMed gnomAD
CA383330766 rs774176953	1401	P>T		No	ClinGen ExAC TOPMed gnomAD
CA6382935 rs760850681	1402	P>R		No	ClinGen ExAC gnomAD
rs1355900026 CA383330777	1403	V>L		No	ClinGen gnomAD
rs776636603 CA6382937	1404	S>P		No	ClinGen ExAC gnomAD
CA231479100 rs138777852	1409	L>F		No	ClinGen ESP
rs750039108 CA383330822	1410	S>C		No	ClinGen TOPMed
CA231479103 rs750039108	1410	S>F		No	ClinGen TOPMed
CA383330833 rs1392383432	1412	V>A		No	ClinGen TOPMed
rs765231847 CA6382939	1412	V>I		No	ClinGen ExAC TOPMed gnomAD
CA6382940 rs750955855	1415	S>R		No	ClinGen ExAC gnomAD
CA6382941 rs763397988	1416	I>T		No	ClinGen ExAC TOPMed gnomAD
CA231479133 rs755994921	1418	I>V		No	ClinGen TOPMed gnomAD
CA6382944 rs754651135	1421	V>I		No	ClinGen ExAC gnomAD
CA6382945 rs779654189	1422	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1246212663 CA383330905	1424	I>M		No	ClinGen TOPMed
CA383330910 rs1320612286	1425	S>C		No	ClinGen gnomAD
CA6382947 rs755717644	1426	T>A		No	ClinGen ExAC gnomAD
rs928992224 CA231479145	1426	T>I		No	ClinGen TOPMed
CA6382948 rs370543517	1427	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs749288056 CA6382949	1428	S>Y		No	ClinGen ExAC gnomAD
rs770873761 CA6382950	1429	P>L		No	ClinGen ExAC TOPMed gnomAD
CA231479160 rs144574489	1433	V>G		No	ClinGen ESP
rs1480741817 CA383330975	1437	T>A		No	ClinGen TOPMed gnomAD
CA231479164 rs1002244239	1439	E>D		No	ClinGen gnomAD
rs1322401725 CA383330994	1440	I>V		No	ClinGen gnomAD
CA231479170 rs72650731	1441	V>F		No	ClinGen ExAC gnomAD
CA6382952 rs72650731	1441	V>I		No	ClinGen ExAC gnomAD
CA6382953 rs771709236	1442	V>A		No	ClinGen ExAC gnomAD
CA231479176 rs372955308	1443	S>Y		No	ClinGen ESP ExAC TOPMed
CA383331015 rs1228999178	1444	S>C		No	ClinGen gnomAD
rs535135770 CA6382955	1445	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1237948163 CA383331025	1445	T>I		No	ClinGen TOPMed gnomAD
CA383331023 rs1237948163	1445	T>R		No	ClinGen TOPMed gnomAD
rs763409077 CA6382958	1447	L>P		No	ClinGen ExAC
rs142543401 CA383331061	1452	T>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA383331062 rs142543401	1452	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1606800 rs774635947 CA6382961	1453	V>I	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA383331067 rs774635947	1453	V>L		No	ClinGen ExAC TOPMed gnomAD
rs759951096 CA383331080	1455	A>E		No	ClinGen ExAC TOPMed gnomAD
rs759951096 CA6382962	1455	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1425030937 CA383331103	1459	S>F		No	ClinGen TOPMed
CA6382965 rs752421235	1461	G>E		No	ClinGen ExAC gnomAD
CA6382964 rs752421235	1461	G>V		No	ClinGen ExAC gnomAD
CA383331117 rs368621387	1462	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA383331120 rs1193226849	1462	G>V		No	ClinGen TOPMed
rs370909801 CA6382969	1464	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1387569449 CA383331146	1467	P>A		No	ClinGen gnomAD
rs1387569449 CA383331147	1467	P>S		No	ClinGen gnomAD
CA383331158 rs1320125644	1469	P>A		No	ClinGen TOPMed gnomAD
rs758241726 CA6382971	1470	K>R		No	ClinGen ExAC gnomAD
CA231479207 rs902748213	1471	P>L		No	ClinGen TOPMed gnomAD
CA383331172 rs1283877911	1471	P>S		No	ClinGen gnomAD
rs779771240 CA6382972	1472	P>L		No	ClinGen ExAC gnomAD
rs1217393290 CA383331177	1472	P>S		No	ClinGen TOPMed
rs1328846283 CA383331193	1475	V>L		No	ClinGen gnomAD
rs1206246067 CA383331241	1482	S>N		No	ClinGen gnomAD
rs769972562 CA6382974	1482	S>R		No	ClinGen ExAC gnomAD
rs367898105 CA6382975	1483	T>I		No	ClinGen ESP ExAC gnomAD
CA383331255 rs1283293103	1484	T>I		No	ClinGen TOPMed
CA383331261 rs1592173726	1485	V>G		No	ClinGen Ensembl
rs1186185519 CA383331256	1485	V>M		No	ClinGen gnomAD
rs1257556926 CA383331275	1488	T>A		No	ClinGen gnomAD
CA6382977 rs770856927 COSM432042	1491	S>L	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1410956383 CA383331293	1491	S>P		No	ClinGen gnomAD
CA6382980 rs768043372	1493	S>F		No	ClinGen ExAC gnomAD
rs759913370 CA6382979	1493	S>P		No	ClinGen ExAC gnomAD
rs775967609 CA6382982	1494	T>I		No	ClinGen ExAC gnomAD
CA383331321 rs763829194	1496	T>I		No	ClinGen ExAC TOPMed gnomAD
CA6382984 rs763829194	1496	T>S		No	ClinGen ExAC TOPMed gnomAD
rs753485992 CA6382985	1500	S>G		No	ClinGen ExAC gnomAD
CA6382987 rs764608991	1504	Q>R		No	ClinGen ExAC gnomAD
rs575881382 CA231479236	1505	L>V		No	ClinGen TOPMed gnomAD
CA383331382 rs7955371	1506	C>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs7955371 CA383331381	1506	C>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200827492 CA231479243	1509	L>F		No	ClinGen Ensembl
rs543991926 CA6382989	1511	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA383331421 rs746802809	1512	S>C		No	ClinGen ExAC TOPMed gnomAD
CA6382991 rs746802809	1512	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1565583167 CA383331432	1513	T>I		No	ClinGen Ensembl
rs1250599983 CA383331437	1514	S>F		No	ClinGen gnomAD
rs886988443 CA231479252	1515	T>A		No	ClinGen TOPMed
rs756386647 CA6382992	1515	T>I		No	ClinGen ExAC gnomAD
CA383331444 rs1183688055	1516	P>A		No	ClinGen TOPMed gnomAD
CA383331448 rs1454330405	1516	P>L		No	ClinGen gnomAD
CA383331443 rs1183688055	1516	P>T		No	ClinGen TOPMed gnomAD
CA6382993 rs770885455	1518	L>S		No	ClinGen ExAC TOPMed gnomAD
CA231479256 rs186880440	1520	E>D		No	ClinGen 1000Genomes
CA383331467 rs1325521671	1520	E>K		No	ClinGen TOPMed
rs1376150921 CA383331492	1524	V>L		No	ClinGen gnomAD
rs759668089 CA231479275	1525	S>T		No	ClinGen Ensembl
CA6382998 rs772706007 COSM944932	1526	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA383331515 rs1301406929	1527	H>Q		No	ClinGen TOPMed
CA6383000 rs375717084	1527	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1407431511 CA383331520	1528	S>L		No	ClinGen TOPMed
rs530093512 CA6383001	1528	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA231479290 rs770211200	1534	H>N		No	ClinGen Ensembl
CA383331557 rs1401324964	1534	H>R		No	ClinGen Ensembl
CA6383003 rs776374890	1535	S>N		No	ClinGen ExAC gnomAD
rs761319041 CA6383004	1537	T>A		No	ClinGen ExAC gnomAD
rs764849814 CA6383005	1537	T>K		No	ClinGen ExAC gnomAD
CA6383006 rs749867274	1538	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1383472367 CA383331584	1538	T>I		No	ClinGen TOPMed
CA383331581 rs749867274	1538	T>S		No	ClinGen ExAC TOPMed gnomAD
CA383331583 rs1383472367	1538	T>S		No	ClinGen TOPMed
CA6383007 rs762943123	1539	G>R		No	ClinGen ExAC TOPMed gnomAD
CA6383008 rs766288157	1540	L>W		No	ClinGen ExAC gnomAD
CA231479311 rs866506016	1543	S>F		No	ClinGen Ensembl
CA6383010 rs754771189	1545	S>C		No	ClinGen ExAC gnomAD
rs780916559 CA6383011	1546	A>T		No	ClinGen ExAC gnomAD
VAR_041316 rs56351358 CA6383012	1546	A>V		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA383331652 rs1462619663 COSM696195	1550	S>C	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA383331664 rs1243714076	1552	S>F		No	ClinGen TOPMed
rs1180253355 CA383331674	1554	G>E		No	ClinGen TOPMed gnomAD
rs367712687 CA6383014	1554	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs896503155 CA231479328	1555	A>T		No	ClinGen gnomAD
rs1327224750 CA383331703	1559	S>N		No	ClinGen gnomAD
CA383331707 rs1373794805	1559	S>R		No	ClinGen TOPMed gnomAD
CA383331720 rs1421699446	1561	I>T		No	ClinGen gnomAD
rs1311071572 CA383331725	1562	S>A		No	ClinGen TOPMed
CA383331728 rs1248680814	1562	S>F		No	ClinGen TOPMed
rs747482543 CA6383018	1564	P>R		No	ClinGen ExAC gnomAD
rs780714710 CA6383017	1564	P>S		No	ClinGen ExAC gnomAD
rs563801917 CA6383019	1565	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs563801917 CA231479338	1565	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1355455236 CA383331789	1573	P>T		No	ClinGen gnomAD
CA383331800 rs1309249087	1574	S>L		No	ClinGen TOPMed
COSM1477027 CA6383022 rs769323756	1576	I>T	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA231479361 rs979662195	1576	I>V		No	ClinGen TOPMed
rs530863992 CA6383023	1578	S>A		No	ClinGen 1000Genomes ExAC gnomAD
rs140652665 CA6383025	1579	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs552650352 CA6383024	1579	T>S		No	ClinGen 1000Genomes ExAC gnomAD
CA383331830 rs1298761421	1580	P>L		No	ClinGen TOPMed
CA6383026 rs553441248	1580	P>S		No	ClinGen ExAC TOPMed gnomAD
rs553441248 CA6383027	1580	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1172878486 CA383331846	1583	P>S		No	ClinGen gnomAD
CA6383028 rs767387297	1588	P>A		No	ClinGen ExAC gnomAD
rs1337123794 CA383331880	1588	P>R		No	ClinGen gnomAD
CA383331886 rs1397083515	1589	T>I		No	ClinGen gnomAD
rs1348314598 CA383331898	1591	T>R		No	ClinGen TOPMed
rs750595427 CA6383032	1598	P>L		No	ClinGen ExAC gnomAD
rs758585729 CA6383033	1599	S>G		No	ClinGen ExAC gnomAD
rs780229328 CA383331954	1600	I>S		No	ClinGen ExAC TOPMed gnomAD
CA6383034 rs780229328	1600	I>T		No	ClinGen ExAC TOPMed gnomAD
rs975581838 CA231479416	1600	I>V		No	ClinGen TOPMed gnomAD
rs1437689611 CA383331965	1602	P>R		No	ClinGen TOPMed
rs747564375 CA6383035	1602	P>S		No	ClinGen ExAC gnomAD
CA231479423 rs111311362	1607	V>A		No	ClinGen Ensembl
CA231479425 rs766966218	1609	N>D		No	ClinGen Ensembl
CA6383039 rs775933163	1609	N>S		No	ClinGen ExAC TOPMed gnomAD
CA383332014 rs1254126180	1610	V>G		No	ClinGen gnomAD
rs949556621 CA231479429	1611	P>R		No	ClinGen TOPMed gnomAD
rs1263363844 CA383332028	1613	V>I		No	ClinGen TOPMed
CA383332033 rs1224238290	1614	Q>E		No	ClinGen TOPMed
CA383332038 rs1592175742	1614	Q>H		No	ClinGen Ensembl
rs1188855806 CA383332041	1615	Q>E		No	ClinGen gnomAD
rs1592175796 CA383332057	1617	L>P		No	ClinGen Ensembl
rs1159092269 CA383332071	1619	H>L		No	ClinGen gnomAD
rs1159092269 CA383332070	1619	H>R		No	ClinGen gnomAD
rs72650733 CA231479434	1620	S>G		No	ClinGen TOPMed
CA383332091 rs1346287016	1622	P>S		No	ClinGen gnomAD
CA231479442 rs112113141	1623	Q>H		No	ClinGen Ensembl
CA6383041 rs748898332	1626	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1238626224 CA383332122	1627	L>F		No	ClinGen TOPMed
CA6383042 rs770478100	1630	Q>K		No	ClinGen ExAC gnomAD
rs773820492 CA6383043	1633	T>S		No	ClinGen ExAC gnomAD
rs1307834864 CA383332170	1634	H>R		No	ClinGen TOPMed
rs767344731 CA6383045	1635	C>F		No	ClinGen ExAC gnomAD
CA383332186 rs1565584658	1636	P>L		No	ClinGen Ensembl
CA383332205 rs1295562532	1639	D>G		No	ClinGen TOPMed
rs546470175 CA6383048	1644	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs760393707 CA6383047	1644	P>S		No	ClinGen ExAC gnomAD
CA383332257 rs1592176175	1647	P>A		No	ClinGen Ensembl
rs1417824819 CA383332318	1656	E>K		No	ClinGen TOPMed
CA383332349 rs1177017375	1660	R>L		No	ClinGen TOPMed gnomAD
rs371813651 CA6383055	1668	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA231479483 rs1056970645	1671	A>S		No	ClinGen Ensembl
CA6383056 rs756466079	1673	H>Q		No	ClinGen ExAC
rs1039791359 CA231479489	1673	H>Y		No	ClinGen TOPMed gnomAD
rs1565584961 CA383332445	1675	S>A		No	ClinGen Ensembl
rs145791746 CA6383057	1676	V>I		No	ClinGen ESP ExAC TOPMed
rs1314378819 CA383332484	1681	S>L		No	ClinGen gnomAD
CA383332488 rs1368280807	1682	L>P		No	ClinGen TOPMed gnomAD
CA383332489 rs1368280807	1682	L>R		No	ClinGen TOPMed gnomAD
rs1298559115 CA383332499	1684	I>T		No	ClinGen gnomAD
CA6383059 rs770568108	1684	I>V		No	ClinGen ExAC TOPMed gnomAD
CA383332505 rs1285193529	1685	E>A		No	ClinGen TOPMed
rs773910482 CA6383060	1686	S>N		No	ClinGen ExAC TOPMed gnomAD
CA6383061 rs745399591	1687	T>A		No	ClinGen ExAC gnomAD
CA383332520 rs1302582079	1687	T>S		No	ClinGen gnomAD
rs1347322171 CA383332529	1689	T>A		No	ClinGen gnomAD
rs1345673038 CA383332542	1691	G>D		No	ClinGen TOPMed gnomAD
rs1386856165 CA383332551	1692	I>M		No	ClinGen TOPMed
CA383332546 rs1380366641	1692	I>V		No	ClinGen TOPMed
rs1282789000 CA383332559	1694	T>A		No	ClinGen gnomAD
rs775325408 CA6383063	1695	T>N		No	ClinGen ExAC
rs776531520 CA6383066	1700	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1592176805 CA383332594	1700	S>N		No	ClinGen Ensembl
CA6383067 rs763331677	1700	S>R		No	ClinGen ExAC gnomAD
rs766692581 CA6383068	1701	K>Q		No	ClinGen ExAC gnomAD
CA383332601 rs1394979841	1701	K>R		No	ClinGen gnomAD
rs1262070698 CA383332629	1706	T>A		No	ClinGen TOPMed
rs1387735694 CA383332661	1710	C>W		No	ClinGen gnomAD
rs1004842904 CA231479552	1712	P>L		No	ClinGen TOPMed gnomAD
CA383332678 rs1344773986	1713	P>L		No	ClinGen gnomAD
CA6383072 rs753165936	1714	T>A		No	ClinGen ExAC
rs1356129466 CA383332684	1714	T>I		No	ClinGen gnomAD
rs1434014769 CA383332686	1715	N>D		No	ClinGen gnomAD
CA6383077 rs568836447	1722	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA231479577 rs955117876	1724	P>S		No	ClinGen Ensembl
CA6383080 rs539118620	1725	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6383079 rs771508897	1725	V>I		No	ClinGen ExAC gnomAD
CA231479582 rs771508897	1725	V>L		No	ClinGen ExAC gnomAD
CA6383081 rs145675918	1726	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6383083 rs776623520	1727	P>S		No	ClinGen ExAC gnomAD
rs1229880970 CA383332758	1728	V>M		No	ClinGen TOPMed
rs974412400 CA231479598	1731	P>A		No	ClinGen Ensembl
CA383332780 rs1318659781	1732	G>R		No	ClinGen TOPMed
rs926538141 CA231479600	1735	S>T		No	ClinGen Ensembl
CA6383087 rs557900010	1736	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs970481024 CA231479608	1736	T>I		No	ClinGen TOPMed gnomAD
CA231479613 rs937846810	1737	P>R		No	ClinGen Ensembl
CA6383091 rs761145354	1741	T>I		No	ClinGen ExAC gnomAD
rs764599186 CA6383092	1742	T>A		No	ClinGen ExAC gnomAD
rs1318451795 CA383332857	1742	T>I		No	ClinGen gnomAD
CA383332875 rs1324815566	1744	G>E		No	ClinGen TOPMed gnomAD
CA383332878 rs1324815566	1744	G>V		No	ClinGen TOPMed gnomAD
rs1271032330 CA383332904	1747	P>T		No	ClinGen gnomAD
CA6383095 rs779203190	1749	T>I		No	ClinGen ExAC gnomAD
rs1592177610 CA383332923	1750	A>S		No	ClinGen Ensembl
CA383332932 rs1165855394	1751	P>L		No	ClinGen TOPMed
rs750096108 CA6383096	1752	S>Y		No	ClinGen ExAC gnomAD
rs866786853 CA231479630	1754	P>S		No	ClinGen Ensembl
CA383332953 rs1282753300	1755	P>L		No	ClinGen gnomAD
rs374559191 CA231479631	1755	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6383098 rs374559191	1755	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1187235878 CA383332976	1759	A>D		No	ClinGen TOPMed
rs141202956 CA6383100	1760	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6383099 rs746512279	1760	P>S		No	ClinGen ExAC gnomAD
rs941366194 CA231480111	1761	V>M		No	ClinGen TOPMed
CA6383125 rs754563758	1762	L>P		No	ClinGen ExAC gnomAD
CA383333011 rs201521760	1764	V>L		No	ClinGen ExAC TOPMed gnomAD
COSM1364687 CA6383129 rs756087008	1765	G>D	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6383130 rs749123278	1766	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1486460640 CA383333021	1766	T>N		No	ClinGen gnomAD
rs1328963512 CA383333035	1768	L>H		No	ClinGen TOPMed gnomAD
rs1328963512 CA383333037	1768	L>R		No	ClinGen TOPMed gnomAD
CA383333042 rs1565588201	1769	P>R		No	ClinGen Ensembl
CA383333038 rs1565588175 COSM4152692	1769	P>T	kidney [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1193657427 CA383333046	1770	A>S		No	ClinGen TOPMed gnomAD
CA383333044 rs1193657427	1770	A>T		No	ClinGen TOPMed gnomAD
CA6383132 rs770566791	1771	G>A		No	ClinGen ExAC TOPMed gnomAD
rs770566791 CA383333053	1771	G>D		No	ClinGen ExAC TOPMed gnomAD
rs770566791 CA6383131	1771	G>V		No	ClinGen ExAC TOPMed gnomAD
CA383333062 rs1592183740	1773	L>V		No	ClinGen Ensembl
CA383333067 rs1163294392	1774	P>A		No	ClinGen TOPMed
rs1592183779 CA383333074	1775	S>C		No	ClinGen Ensembl
rs747187765 CA6383133	1775	S>N		No	ClinGen ExAC TOPMed gnomAD
CA6383135 rs551435012	1776	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1231182061 CA383333089	1777	Q>P		No	ClinGen TOPMed
CA6383137 rs765716543	1781	F>S		No	ClinGen ExAC gnomAD
rs1184262031 CA383333118	1782	P>T		No	ClinGen TOPMed
rs763377952 CA6383139	1785	S>C		No	ClinGen ExAC TOPMed gnomAD
rs763377952 CA383333140	1785	S>F		No	ClinGen ExAC TOPMed gnomAD
CA383333144 rs1392306472	1786	L>P		No	ClinGen gnomAD
CA231480170 rs371309402	1787	T>I		No	ClinGen ESP TOPMed
CA6383156 rs773797682	1790	Q>H		No	ClinGen ExAC gnomAD
rs769694100 CA6383155	1790	Q>R		No	ClinGen ExAC gnomAD
rs763317278 CA6383157	1791	Q>H		No	ClinGen ExAC gnomAD
rs907218704 CA231482334	1794	E>G		No	ClinGen Ensembl
rs1274945516 CA383333201	1794	E>Q		No	ClinGen TOPMed gnomAD
CA6383158 rs766814784	1796	L>P		No	ClinGen ExAC gnomAD
CA6383159 rs774548155	1797	D>V		No	ClinGen ExAC gnomAD
CA383333237 rs1429351263	1799	Q>R		No	ClinGen gnomAD
rs1311387484 CA383333250	1801	R>I		No	ClinGen TOPMed
rs752331592 CA6383162	1803	T>A		No	ClinGen ExAC gnomAD
CA383333265 rs1166353138	1803	T>R		No	ClinGen gnomAD
CA6383165 rs753866397	1804	L>V		No	ClinGen ExAC gnomAD
rs1371122345 CA383333289	1807	E>A		No	ClinGen TOPMed
rs763976506 CA231482380	1810	T>R		No	ClinGen Ensembl
CA231482392 rs1028471209	1811	V>M		No	ClinGen gnomAD
rs1291039815 CA383333323	1812	T>I		No	ClinGen gnomAD
rs750200910 CA6383168	1812	T>S		No	ClinGen ExAC
rs1354633016 CA383333332	1814	A>T		No	ClinGen TOPMed gnomAD
rs953160606 CA231482398 COSM3399208	1814	A>V	central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed
rs781394180 CA6383170	1815	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1315079574 CA383333344	1816	G>A		No	ClinGen gnomAD
rs1401495953 CA383333359	1817	P>A		No	ClinGen gnomAD
CA383333360 rs1401495953	1817	P>S		No	ClinGen gnomAD
rs951696841 CA231482983	1818	V>M		No	ClinGen Ensembl
CA383333378 rs1446441503	1820	M>T		No	ClinGen gnomAD
CA231482987 rs1007706533	1820	M>V		No	ClinGen TOPMed gnomAD
CA383333383 rs1393896346	1821	A>T		No	ClinGen gnomAD
RCV000506465 CA6383196 RCV001508684 rs371264719	1821	A>V		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA231482996 rs774513601	1822	A>T		No	ClinGen Ensembl
rs17755373 CA6383198 VAR_041318	1823	P>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6383199 rs746329866	1824	T>K		No	ClinGen ExAC gnomAD
CA6383201 rs200088531	1825	A>S		No	ClinGen ExAC gnomAD
CA6383202 rs760439565	1827	T>I		No	ClinGen ExAC TOPMed gnomAD
rs763932979 CA6383204	1831	T>A		No	ClinGen ExAC TOPMed gnomAD
rs373765496 CA231483034	1831	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA231483052 rs149516476	1834	Q>*		No	ClinGen ESP ExAC TOPMed
CA6383209 rs149516476	1834	Q>K		No	ClinGen ESP ExAC TOPMed
CA231483057 rs1057182191	1834	Q>P		No	ClinGen TOPMed gnomAD
rs772629420 CA231483064	1835	K>R		No	ClinGen Ensembl
COSM3416361 rs953730648 CA231485460	1839	Q>P	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA383334153 rs1361074415	1843	G>D		No	ClinGen TOPMed
rs1223170716 CA383334177	1845	V>G		No	ClinGen gnomAD
CA231485462 rs986578207	1845	V>I		No	ClinGen TOPMed
rs762946884 CA6383228	1848	T>A		No	ClinGen ExAC gnomAD
rs766291907 CA6383229	1849	S>N		No	ClinGen ExAC TOPMed gnomAD
CA383334327 rs1344994354	1857	M>I		No	ClinGen TOPMed
CA383334333 rs1395162926	1858	G>R		No	ClinGen TOPMed gnomAD
rs767293126 CA6383232	1859	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs775349359 CA6383252	1862	V>A		No	ClinGen ExAC TOPMed gnomAD
CA6383253 rs762180270	1863	S>F		No	ClinGen ExAC gnomAD
CA383334421 rs765566878	1864	V>F		No	ClinGen ExAC gnomAD
rs765566878 CA6383254	1864	V>I		No	ClinGen ExAC gnomAD
rs1216627755 CA383334427	1865	A>S		No	ClinGen TOPMed gnomAD
CA6383255 rs750602056	1866	A>V		No	ClinGen ExAC gnomAD
rs1264762799 CA383334437	1867	D>H		No	ClinGen gnomAD
COSM933781 CA6383257 rs766436838	1868	G>S	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA383334449 rs1209621039	1869	A>T		No	ClinGen gnomAD
CA6383258 rs752058274	1870	Q>P		No	ClinGen ExAC gnomAD
CA231486400 rs147161775	1871	K>E		No	ClinGen ESP
rs879124120 CA231486405	1871	K>R		No	ClinGen Ensembl
CA231486409 rs377570472	1872	E>Q		No	ClinGen ESP
CA383334475 rs1179634162	1873	G>S		No	ClinGen TOPMed gnomAD
CA383334487 rs1592225986	1874	K>N		No	ClinGen Ensembl
rs1254658679 COSM933783 CA383334485	1874	K>R	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
CA383334493 rs199778730	1875	N>I		No	ClinGen 1000Genomes gnomAD
CA231486414 rs199778730	1875	N>T		No	ClinGen 1000Genomes gnomAD
CA383334491 rs1440193183	1875	N>Y		No	ClinGen TOPMed gnomAD
rs986236440 CA231486420	1878	E>K		No	ClinGen TOPMed gnomAD
rs968933608 CA231486421	1879	D>G		No	ClinGen TOPMed gnomAD
CA6383260 rs72650763	1880	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753048499 CA6383261	1880	A>V		No	ClinGen ExAC TOPMed gnomAD
CA383334661 rs1228840719	1887	S>A		No	ClinGen TOPMed
rs777407811 CA6383263	1891	E>Q		No	ClinGen ExAC gnomAD
CA383334729 rs1310813736	1892	S>P		No	ClinGen gnomAD
CA6383264 rs748890053	1894	V>L		No	ClinGen ExAC
rs770476272 CA6383265	1895	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1346909434 CA383334782	1897	S>G		No	ClinGen TOPMed gnomAD
CA383334806 rs1193887255	1898	S>N		No	ClinGen gnomAD
CA231486453 rs911381418	1902	S>N		No	ClinGen Ensembl
CA6383269 rs759895083	1905	V>E		No	ClinGen ExAC TOPMed gnomAD
CA383334928 rs1167555017	1907	P>A		No	ClinGen TOPMed
rs768535371 CA6383271	1909	P>A		No	ClinGen ExAC gnomAD
rs548442202 CA6383272	1909	P>L		No	ClinGen ExAC TOPMed gnomAD
rs766411372 CA6383275	1911	G>R		No	ClinGen ExAC TOPMed gnomAD
rs766411372 CA6383274	1911	G>S		No	ClinGen ExAC TOPMed gnomAD
CA6383276 rs201995891	1912	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1592226509 CA383334999	1913	T>N		No	ClinGen Ensembl
rs1466661707 CA383334996	1913	T>P		No	ClinGen gnomAD
rs184764148 CA6383277	1914	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1385700545 CA383335019	1915	P>S		No	ClinGen gnomAD
rs1301309438 CA383335032	1916	G>D		No	ClinGen gnomAD
CA383335078 rs1488050527	1920	D>Y		No	ClinGen TOPMed
rs1224718687 CA383335112	1923	E>Q		No	ClinGen gnomAD
CA383335135 rs1246901757	1924	S>N		No	ClinGen TOPMed
CA6383280 rs753527425	1925	A>G		No	ClinGen ExAC gnomAD
CA231486507 rs868234287	1926	H>N		No	ClinGen gnomAD
rs1322247310 CA383335162	1926	H>R		No	ClinGen TOPMed
rs868234287 CA383335158	1926	H>Y		No	ClinGen gnomAD
CA6383281 rs756928358	1927	K>E		No	ClinGen ExAC gnomAD
rs1209355422 CA383335190	1928	T>S		No	ClinGen gnomAD
CA383335217 rs1268090127	1930	A>V		No	ClinGen gnomAD
CA383335248 rs1423421362	1933	A>T		No	ClinGen gnomAD
rs1478338556 CA383335283	1935	S>L		No	ClinGen gnomAD
CA231486544 rs113335986	1935	S>P		No	ClinGen Ensembl
CA383335317 rs1565603585	1938	G>E		No	ClinGen Ensembl
rs771412984 CA6383284	1939	Q>L		No	ClinGen ExAC gnomAD
CA383335342 rs1416374405	1940	P>S		No	ClinGen TOPMed gnomAD
rs780166972 CA6383285	1941	T>A		No	ClinGen ExAC gnomAD
rs375862817 CA231486550	1942	K>Q		No	ClinGen ESP TOPMed
CA383335377 rs1380238348	1943	V>I		No	ClinGen gnomAD
rs768625196 CA6383287	1944	G>A		No	ClinGen ExAC gnomAD
rs768625196 CA6383288	1944	G>E		No	ClinGen ExAC gnomAD
CA6383290 rs117016551	1945	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA383335399 rs117016551	1945	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1385827858 CA383335419	1946	F>L		No	ClinGen TOPMed
rs774379842 CA6383291	1948	V>M		No	ClinGen ExAC TOPMed gnomAD
rs564668247 CA6383292	1950	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs776025657 CA6383294	1956	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1458918451 CA383335535	1956	G>S		No	ClinGen TOPMed
CA6383296 VAR_041319 rs36083875	1957	R>H		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs1488716255 CA383335572	1959	S>C		No	ClinGen gnomAD
CA231486607 rs1010227759	1960	V>I		No	ClinGen gnomAD
CA383335579 rs1010227759	1960	V>L		No	ClinGen gnomAD
CA6383297 rs754186219	1962	K>E		No	ClinGen ExAC gnomAD
CA383335650 rs1423749140	1965	D>E		No	ClinGen gnomAD
rs889349964 CA231486608	1965	D>Y		No	ClinGen TOPMed
CA383335681 rs1166106162	1968	T>S		No	ClinGen TOPMed gnomAD
rs757502902 CA6383298	1970	T>A		No	ClinGen ExAC gnomAD
rs1450970677 CA383335726	1971	K>R		No	ClinGen TOPMed gnomAD
CA383335725 rs1450970677	1971	K>T		No	ClinGen TOPMed gnomAD
rs1592227149 CA383335735	1972	K>Q		No	ClinGen Ensembl
rs1360808140 CA383335787	1975	P>L		No	ClinGen gnomAD
rs749998570 CA6383301	1978	S>F		No	ClinGen ExAC TOPMed gnomAD
CA231486610 rs1007576032	1978	S>T		No	ClinGen TOPMed
rs757951705 CA6383302	1980	P>S		No	ClinGen ExAC TOPMed gnomAD
CA383335889 rs1352727163	1983	D>G		No	ClinGen gnomAD
rs1021587275 CA231486620	1985	E>D		No	ClinGen Ensembl
CA231486623 rs993578205	1988	V>I		No	ClinGen TOPMed gnomAD
rs746986005 CA6383304	1991	A>S		No	ClinGen ExAC TOPMed gnomAD
rs781193195 CA6383306	1993	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1486985641 CA383336006	1993	I>T		No	ClinGen gnomAD
rs1483121963 CA383336036	1997	E>V		No	ClinGen gnomAD
CA383336046 rs1258835813	1998	K>N		No	ClinGen gnomAD
rs1592227514 CA383336052	1999	P>S		No	ClinGen Ensembl
rs1018499472 CA231486647	2000	E>D		No	ClinGen Ensembl
rs774666279 CA6383309	2000	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA383336122 rs1434153566	2005	S>P		No	ClinGen gnomAD
rs1171346277 CA383336145	2006	H>R		No	ClinGen gnomAD
CA6383313 rs761227865	2007	L>I		No	ClinGen ExAC gnomAD
rs764595104 CA6383314	2010	P>L		No	ClinGen ExAC TOPMed gnomAD
CA6383317 rs560836712	2011	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs909810117 CA231486687	2014	P>L		No	ClinGen TOPMed gnomAD
rs757961067 CA6383319	2015	E>K		No	ClinGen ExAC gnomAD
CA6383320 rs766056816	2016	A>T		No	ClinGen ExAC gnomAD
CA231486709 rs543902824	2017	A>T		No	ClinGen TOPMed gnomAD
rs1258089031 CA383336347	2022	D>G		No	ClinGen gnomAD
CA6383323 rs781281269	2024	D>G		No	ClinGen ExAC TOPMed gnomAD
rs754481647 CA6383322	2024	D>Y		No	ClinGen ExAC
rs1440972534 CA383336428	2028	G>R		No	ClinGen TOPMed gnomAD
CA383336425 rs1440972534	2028	G>S		No	ClinGen TOPMed gnomAD
CA383336443 rs1191400971	2029	S>N		No	ClinGen gnomAD
CA6383326 rs777398216	2030	P>R		No	ClinGen ExAC gnomAD
rs371469607 CA6383328	2031	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs908898610 CA231486758	2031	H>Y		No	ClinGen TOPMed gnomAD
CA6383330 rs780191582	2032	S>L		No	ClinGen ExAC TOPMed gnomAD
rs780191582 CA6383329	2032	S>W		No	ClinGen ExAC TOPMed gnomAD
rs762200146 CA6383333	2035	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA383336546 rs1273114507	2037	S>I		No	ClinGen TOPMed gnomAD
CA383336548 rs1273114507	2037	S>N		No	ClinGen TOPMed gnomAD
CA383336567 rs1359994702	2039	K>E		No	ClinGen TOPMed gnomAD
rs142439139 CA6383334	2040	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA383336592 rs142439139	2040	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs938554647 CA231486836	2041	L>P		No	ClinGen Ensembl
CA6383337 rs762728186	2043	S>R		No	ClinGen ExAC gnomAD
CA6383336 rs762728186	2043	S>R		No	ClinGen ExAC gnomAD
CA6383338 rs751192879	2046	L>P		No	ClinGen ExAC gnomAD
rs759148808 CA6383339	2049	S>R		No	ClinGen ExAC gnomAD
rs561238194 CA6383341	2051	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1389323868 CA383336771	2053	S>L		No	ClinGen TOPMed
CA6383343 rs72650767	2056	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1298904248 CA383336837	2059	M>L		No	ClinGen TOPMed gnomAD
CA383336838 rs1298904248	2059	M>V		No	ClinGen TOPMed gnomAD
rs753587522 CA6383344	2061	S>G		No	ClinGen ExAC gnomAD
rs201207378 CA383336860	2061	S>R		No	ClinGen TOPMed gnomAD
rs756976875 CA6383345	2062	D>H		No	ClinGen ExAC TOPMed gnomAD
CA6383346 rs780282913	2063	N>D		No	ClinGen ExAC gnomAD
CA6383347 rs747180788	2063	N>S		No	ClinGen ExAC TOPMed gnomAD
CA6383348 rs768768919	2064	E>D		No	ClinGen ExAC TOPMed gnomAD
rs374523969 CA6383349	2067	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1349310560 CA383336901	2068	E>K		No	ClinGen TOPMed gnomAD
rs1295478510 CA383336928	2071	D>G		No	ClinGen gnomAD
CA6383351 rs770190700	2071	D>N		No	ClinGen ExAC gnomAD
CA383336939 rs1218436122	2073	K>Q		No	ClinGen gnomAD
rs773713973 CA6383352	2073	K>R		No	ClinGen ExAC gnomAD
rs771385000 CA6383354	2077	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1043098905 CA231486981	2078	R>Q		No	ClinGen TOPMed gnomAD
rs774170069 CA6383355	2080	R>Q		No	ClinGen ExAC gnomAD
CA6383356 rs759243697	2081	D>N		No	ClinGen ExAC TOPMed gnomAD
CA383337028 rs1238009725	2085	K>R		No	ClinGen TOPMed gnomAD
CA6383373 rs144438463	2088	Q>E		No	ClinGen ESP ExAC TOPMed
rs1185508045 CA383337060	2089	D>E		No	ClinGen gnomAD
CA383337057 rs1435139501	2089	D>G		No	ClinGen TOPMed
rs745572782 CA6383374	2089	D>N		No	ClinGen ExAC TOPMed gnomAD
rs992432813 CA231487662	2090	L>V		No	ClinGen TOPMed gnomAD
CA383337079 rs1159470464	2092	S>R		No	ClinGen gnomAD
rs771635373 CA6383375	2092	S>T		No	ClinGen ExAC gnomAD
rs771333421 CA6383376	2093	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6383377 rs200315094 RCV000597754	2093	R>H		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA6383379 rs776595258	2096	H>D		No	ClinGen ExAC TOPMed gnomAD
CA383337103 rs1450728062	2096	H>R		No	ClinGen gnomAD
CA6383381 rs765086783	2098	I>V		No	ClinGen ExAC gnomAD
CA383337146 rs1240503074	2102	Y>C		No	ClinGen gnomAD
rs1240503074 CA383337147	2102	Y>F		No	ClinGen gnomAD
rs1380180827 CA383337154	2103	T>I		No	ClinGen gnomAD
rs750209111 CA6383382	2104	K>R		No	ClinGen ExAC TOPMed gnomAD
CA6383383 rs758133988	2105	L>Q		No	ClinGen ExAC gnomAD
CA383337164 rs1199697447	2105	L>V		No	ClinGen TOPMed gnomAD
CA383337170 rs1238127491	2106	G>A		No	ClinGen Ensembl
CA6383385 rs752925467	2106	G>R		No	ClinGen ExAC gnomAD
rs1238127491 CA383337171	2106	G>V		No	ClinGen Ensembl
rs756171922 CA6383386	2107	K>M		No	ClinGen ExAC gnomAD
rs1437946999 CA383337181	2108	V>M		No	ClinGen TOPMed gnomAD
rs367854683 CA6383387	2109	P>L		No	ClinGen ESP ExAC gnomAD
CA383337201 rs1565607049	2111	A>V		No	ClinGen Ensembl
CA383337202 rs1340667805	2112	V>I		No	ClinGen TOPMed
CA383337209 rs1477139555	2113	I>V		No	ClinGen gnomAD
CA383337215 rs1172364059	2114	I>L		No	ClinGen gnomAD
CA383337234 rs1403282464	2117	A>T		No	ClinGen gnomAD
CA383337245 rs1471274454	2118	A>V		No	ClinGen TOPMed gnomAD
CA6383389 rs372087699	2119	P>S		No	ClinGen ESP ExAC gnomAD
CA231487761 rs867516401	2121	S>L		No	ClinGen Ensembl
rs1398965260 CA383337262	2122	G>R		No	ClinGen gnomAD
CA383337274 rs1242660897	2123	R>S		No	ClinGen TOPMed
rs1332749968 CA383337287	2126	R>*		No	ClinGen TOPMed gnomAD
rs376938138 CA6383391	2126	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA383337293 rs1565607272	2127	P>R		No	ClinGen Ensembl
CA231487772 rs978614574	2127	P>T		No	ClinGen Ensembl
CA6383393 rs772441387	2135	S>Y		No	ClinGen ExAC gnomAD
CA6383394 rs775024404	2136	S>G		No	ClinGen ExAC gnomAD
rs746647121 CA6383395	2137	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs768089161 CA6383396	2140	S>T		No	ClinGen ExAC gnomAD
rs776111426 CA6383397	2141	L>V		No	ClinGen ExAC gnomAD
rs1199382432 CA383337391	2142	G>R		No	ClinGen TOPMed gnomAD
rs761800222 CA6383398	2143	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1262851718 CA383337913	2151	N>I		No	ClinGen gnomAD
rs1259533809 CA383337961	2155	Q>L		No	ClinGen gnomAD
CA383337997 rs1173159491	2158	A>T		No	ClinGen gnomAD
CA231490080 rs954317279	2159	S>A		No	ClinGen TOPMed gnomAD
CA383338039 rs1367085372	2162	H>Y		No	ClinGen TOPMed gnomAD
CA383338063 rs1297368558	2165	Q>R		No	ClinGen gnomAD
rs1340879295 CA383338068	2166	T>A		No	ClinGen gnomAD
CA6383421 rs774193094	2169	P>S		No	ClinGen ExAC gnomAD
rs1361883208 CA383338101	2171	G>V		No	ClinGen gnomAD
CA6383423 rs764413719	2173	I>M		No	ClinGen ExAC gnomAD
CA383338124 rs1592247446	2175	E>Q		No	ClinGen Ensembl
rs765382390 CA6383426	2177	G>E		No	ClinGen ExAC gnomAD
CA6383425 rs375805785	2177	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA231490139 rs1036588128	2178	Q>E		No	ClinGen Ensembl
CA6383427 rs750930199	2180	Q>H		No	ClinGen ExAC gnomAD
rs780337085 CA6383429	2182	L>S		No	ClinGen ExAC gnomAD
rs751969478 CA383338174	2183	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs751969478 CA6383430	2183	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs898024572 CA231490186	2185	L>I		No	ClinGen gnomAD
CA383338195 rs1449724578	2186	K>T		No	ClinGen TOPMed
rs1300811119 CA383338210	2188	S>F		No	ClinGen gnomAD
CA231490203 rs141322375	2188	S>P		No	ClinGen ESP TOPMed gnomAD
CA383338206 rs141322375	2188	S>T		No	ClinGen ESP TOPMed gnomAD
CA6383432 rs780858940	2191	S>G		No	ClinGen ExAC gnomAD
CA6383433 rs747750974	2192	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA383338237 rs1352932904	2193	N>H		No	ClinGen TOPMed
rs769343231 CA6383434	2194	L>H		No	ClinGen ExAC TOPMed gnomAD
CA383338254 rs1224977829	2195	Y>C		No	ClinGen TOPMed
rs931362011 CA231490205	2196	S>A		No	ClinGen TOPMed
CA383338266 rs1238299298	2197	A>D		No	ClinGen gnomAD
rs370128345 CA6383435	2198	F>I		No	ClinGen ESP ExAC gnomAD
CA6383436 rs749252314	2199	T>I		No	ClinGen ExAC gnomAD
CA6383439 rs141160595	2206	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA383338336 COSM278140 rs1244513308	2208	S>N	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
RCV000176681 rs72650768 CA202065	2208	S>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1399741291 CA383338341	2209	L>F		No	ClinGen TOPMed
rs145690082 CA383338357	2212	P>A		No	ClinGen ESP TOPMed gnomAD
CA231490290 rs145690082	2212	P>T		No	ClinGen ESP TOPMed gnomAD
CA383338372 rs1380548148	2214	Q>R		No	ClinGen gnomAD
CA383340243 rs1406234512	2216	T>I		No	ClinGen gnomAD
rs767938457 CA6383467	2221	T>A		No	ClinGen ExAC gnomAD
CA6383468 rs779375135	2222	V>A		No	ClinGen ExAC gnomAD
rs1328634658 CA383340321	2222	V>I		No	ClinGen TOPMed gnomAD
rs1328634658 CA383340319	2222	V>L		No	ClinGen TOPMed gnomAD
rs756403070 CA6383469	2223	G>A		No	ClinGen ExAC TOPMed gnomAD
CA6383470 rs763836773	2224	A>S		No	ClinGen ExAC TOPMed gnomAD
CA383340337 rs763836773	2224	A>T		No	ClinGen ExAC TOPMed gnomAD
CA6383471 rs753382746	2224	A>V		No	ClinGen ExAC TOPMed gnomAD
CA231497505 rs1028997187	2225	T>A		No	ClinGen TOPMed gnomAD
rs1263706961 CA383340394	2228	S>T		No	ClinGen gnomAD
COSM347406 rs778252327 CA6383473	2231	A>T	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6383474 rs745862944	2231	A>V		No	ClinGen ExAC TOPMed gnomAD
CA231497528 rs1052286273	2232	Q>E		No	ClinGen TOPMed gnomAD
CA231497534 rs780078845	2233	A>G		No	ClinGen ExAC TOPMed
CA6383476 rs780078845	2233	A>V		No	ClinGen ExAC TOPMed
CA6383479 rs768533451	2234	Q>H		No	ClinGen ExAC
CA6383478 rs768533451	2234	Q>H		No	ClinGen ExAC
rs1234999175 CA383340439	2235	P>L		No	ClinGen gnomAD
rs771084139 CA6383481	2236	P>S		No	ClinGen ExAC gnomAD
CA383340458 rs1430644425	2238	M>I		No	ClinGen gnomAD
CA383340453 rs1565623800	2238	M>V		No	ClinGen Ensembl
CA6383482 rs753567713	2239	T>M		No	ClinGen ExAC TOPMed gnomAD
CA6383485 rs775935459	2252	K>N		No	ClinGen ExAC gnomAD
rs761048329 CA6383486	2256	N>S		No	ClinGen ExAC gnomAD
CA6383487 rs764343033	2262	M>V		No	ClinGen ExAC gnomAD
rs753567963 CA6383488	2263	N>S		No	ClinGen ExAC gnomAD
CA6383489 rs761363777	2264	L>I		No	ClinGen ExAC gnomAD
rs761363777 CA383340637	2264	L>V		No	ClinGen ExAC gnomAD
CA6383490 rs764856249	2265	S>P		No	ClinGen ExAC gnomAD
CA6383492 rs757911845	2268	R>K		No	ClinGen ExAC gnomAD
CA383340668 rs1196649761	2269	G>A		No	ClinGen gnomAD
CA383340669 rs1196649761	2269	G>V		No	ClinGen gnomAD
rs780174776 CA6383493	2270	S>G		No	ClinGen ExAC TOPMed gnomAD
CA383340670 rs780174776	2270	S>R		No	ClinGen ExAC TOPMed gnomAD
rs780823198 CA6383496	2274	M>V		No	ClinGen ExAC TOPMed gnomAD
CA383340720 rs4766334	2276	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771046977 CA6383498	2276	Y>N		No	ClinGen ExAC gnomAD
CA383340747 rs1592281271	2278	G>D		No	ClinGen Ensembl
CA383340743 rs1245571411	2278	G>R		No	ClinGen gnomAD
rs780103639 CA6383519	2282	A>S		No	ClinGen ExAC gnomAD
rs1253517703 CA383340796	2285	F>L		No	ClinGen gnomAD
CA383340793 rs1207406562	2285	F>Y		No	ClinGen gnomAD
CA231498010 rs1050369612	2287	A>T		No	ClinGen TOPMed
CA6383523 rs748489954	2289	G>R		No	ClinGen ExAC gnomAD
CA383340826 rs1258863936	2290	Q>H		No	ClinGen Ensembl
CA6383526 rs762667877	2295	M>L		No	ClinGen ExAC TOPMed gnomAD
rs762667877 CA383340854	2295	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1592281556 CA383340876	2298	N>T		No	ClinGen Ensembl
CA6383529 rs143616411	2299	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1337401133 CA383340892	2301	G>R		No	ClinGen gnomAD
rs767363022 CA6383530	2302	S>F		No	ClinGen ExAC gnomAD
rs752629128 CA6383531	2303	A>V		No	ClinGen ExAC gnomAD
rs755909714 CA6383532	2305	I>F		No	ClinGen ExAC gnomAD
rs1204227298 CA383340948	2310	A>V		No	ClinGen TOPMed
rs1317165482 CA383340950	2311	T>A		No	ClinGen TOPMed
rs763844475 CA6383533	2312	S>C		No	ClinGen ExAC gnomAD
rs750710650 CA6383535	2317	T>A		No	ClinGen ExAC gnomAD
CA383340992 rs1323400413	2318	K>Q		No	ClinGen gnomAD
rs200578713 CA231498154	2320	M>I		No	ClinGen gnomAD
rs371290073 CA6383538	2320	M>T		No	ClinGen ESP ExAC gnomAD
rs144574284 COSM1298822 CA6383537	2320	M>V	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1592281849 CA383341013	2321	C>R		No	ClinGen Ensembl
rs1251020054 CA383341020	2322	P>T		No	ClinGen gnomAD
rs1173650870 CA383341029	2323	P>L		No	ClinGen TOPMed gnomAD
rs1420629830 CA383341026	2323	P>T		No	ClinGen gnomAD
rs1360624115 CA383341049	2326	Y>H		No	ClinGen TOPMed gnomAD
CA6383540 rs781574573	2329	P>L		No	ClinGen ExAC gnomAD
rs1177317020 CA383341075	2330	A>P		No	ClinGen TOPMed gnomAD
rs1177317020 CA383341077	2330	A>T		No	ClinGen TOPMed gnomAD
rs1565625592 CA383341080	2330	A>V		No	ClinGen Ensembl
CA383341081 rs1592281993	2331	T>P		No	ClinGen Ensembl
CA231498156 rs994583198	2332	P>L		No	ClinGen TOPMed
CA6383541 rs748668885	2332	P>T		No	ClinGen ExAC gnomAD
CA383341095 rs1440345094	2333	F>S		No	ClinGen gnomAD
rs773987890 CA6383546	2337	W>R		No	ClinGen ExAC gnomAD
rs773987890 CA6383547	2337	W>R		No	ClinGen ExAC gnomAD
CA383341131 rs1592282124	2338	S>R		No	ClinGen Ensembl
CA383341132 rs1295998421	2339	G>R		No	ClinGen gnomAD
CA6383548 rs767029551	2340	T>M		No	ClinGen ExAC TOPMed gnomAD
CA383341159 rs1275801853	2341	G>D		No	ClinGen gnomAD
rs763934476 CA6383551	2343	P>A		No	ClinGen ExAC gnomAD
rs1251565394 CA383341187	2344	A>T		No	ClinGen gnomAD
CA6383552 rs753640143	2344	A>V		No	ClinGen ExAC gnomAD
rs766617331 CA6383554	2345	P>T		No	ClinGen ExAC
CA231498222 rs1026240438	2346	Q>H		No	ClinGen Ensembl
rs375566748 CA6383559	2353	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA6383558 rs748673917	2353	P>T		No	ClinGen ExAC gnomAD
CA231498242 rs991955084	2357	A>T		No	ClinGen TOPMed
CA383341374 rs1236255708	2358	S>F		No	ClinGen TOPMed
CA231498244 rs964779646	2360	Q>H		No	ClinGen Ensembl
rs1169775909 CA383341406	2361	N>Y		No	ClinGen gnomAD
CA6383560 rs778367857	2362	F>C		No	ClinGen ExAC gnomAD
rs1024906884 CA231498250	2363	N>S		No	ClinGen TOPMed
rs1565626117 RCV000723224	2365	S>missing		No	ClinVar dbSNP
rs1463668083 CA383341466	2365	S>N		No	ClinGen gnomAD
rs534059333 CA6383561	2366	N>Y		No	ClinGen 1000Genomes ExAC TOPMed
CA383341491 rs1288483273	2367	L>S		No	ClinGen TOPMed
CA231498265 rs994965874	2368	Q>H		No	ClinGen Ensembl
rs771383347 CA383341553	2372	S>C		No	ClinGen ExAC gnomAD
rs1592282583 CA383341569	2373	N>T		No	ClinGen Ensembl
CA383341581 rs1358007415	2374	P>S		No	ClinGen TOPMed
CA6383564 rs745500675	2375	P>S		No	ClinGen ExAC TOPMed gnomAD
CA383341604 rs760116094	2376	G>A		No	ClinGen ExAC TOPMed gnomAD
COSM1270482 CA6383567 rs760116094	2376	G>D	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6383566 rs775052421	2376	G>S		No	ClinGen ExAC gnomAD
rs531919850 CA383341643	2380	R>P		No	ClinGen TOPMed gnomAD

No associated diseases with Q9H4A3

13 regional properties for Q9H4A3

Type	Name	Position	InterPro Accession
domain	AAA+ ATPase domain	1788 - 2114	IPR003593-1
domain	AAA+ ATPase domain	2410 - 2560	IPR003593-2
domain	AAA+ ATPase domain	2752 - 2918	IPR003593-3
domain	Dynein heavy chain region D6 P-loop domain	3792 - 3894	IPR004273
domain	Dynein heavy chain, tail	220 - 763	IPR013594
domain	Dynein heavy chain, linker	1221 - 1626	IPR013602
domain	Dynein heavy chain, AAA module D4	2732 - 2935	IPR024317
domain	Dynein heavy chain, coiled coil stalk	3018 - 3346	IPR024743
domain	Dynein heavy chain, hydrolytic ATP-binding dynein motor region	1758 - 2081	IPR035699
domain	Dynein heavy chain, ATP-binding dynein motor region	3378 - 3597	IPR035706
domain	Dynein heavy chain 3, AAA+ lid domain	2608 - 2681	IPR041589
domain	Dynein heavy chain AAA lid domain	3929 - 4016	IPR041658
domain	DYN1, AAA+ ATPase lid domain	2223 - 2358	IPR048404

Functions

		Description
EC Number	2.7.11.1	Protein-serine/threonine kinases
Subcellular Localization	Cytoplasm Nucleus Cytoplasm, cytoskeleton, spindle	Mediates formation and localizes to cytoplasmic membraneless compartment in response to hyperosmotic stress (PubMed:36318922) Also localizes to the nucleus (PubMed:29196535) Localizes to the mitotic spindle during mitosis (PubMed:21220314)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

11 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
chloride channel inhibitor activity	Binds to and stops, prevents, or reduces the activity of a chloride channel.
phosphatase binding	Binding to a phosphatase.
potassium channel inhibitor activity	Binds to and stops, prevents, or reduces the activity of a potassium channel.
protein kinase activator activity	Binds to and increases the activity of a protein kinase, an enzyme which phosphorylates a protein.
protein kinase activity	Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP.
protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
protein kinase inhibitor activity	Binds to and stops, prevents or reduces the activity of a protein kinase, an enzyme which phosphorylates a protein.
protein serine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate.
protein serine/threonine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.
protein serine/threonine/tyrosine kinase activity	Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate.

26 GO annotations of biological process

Name	Definition
cation homeostasis	Any process involved in the maintenance of an internal steady state of cations within an organism or cell.
cellular response to chemokine	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemokine stimulus.
chemokine (C-C motif) ligand 21 signaling pathway	The series of molecular signals initiated by the binding of the C-C chemokine CCL21 to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
ion homeostasis	Any process involved in the maintenance of an internal steady state of ions within an organism or cell.
ion transport	The directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
lymphocyte migration into lymph node	The movement of a lymphocyte within the lymphatic system into a lymph node, and its subsequent positioning within defined functional compartments such as sites of cell activation by antigen.
negative regulation of cell-cell adhesion mediated by integrin	Any process that stops, prevents, or reduces the frequency, rate, or extent of cell-cell adhesion mediated by integrin.
negative regulation of GTPase activity	Any process that stops or reduces the rate of GTP hydrolysis by a GTPase.
negative regulation of heterotypic cell-cell adhesion	Any process that stops, prevents, or reduces the frequency, rate, or extent of heterotypic cell-cell adhesion.
negative regulation of leukocyte cell-cell adhesion	Any process that stops, prevents or reduces the frequency, rate or extent of leukocyte cell-cell adhesion.
negative regulation of pancreatic juice secretion	Any process that decreases the rate, frequency or extent of pancreatic juice secretion, the regulated release of pancreatic juice by the exocrine pancreas into the upper part of the intestine.
negative regulation of sodium ion transport	Any process that decreases the frequency, rate or extent of the directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
neuron development	The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell.
peptidyl-serine phosphorylation	The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine.
peptidyl-threonine phosphorylation	The phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine.
positive regulation of canonical Wnt signaling pathway	Any process that increases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.
positive regulation of potassium ion import across plasma membrane	Any process that activates or increases the frequency, rate or extent of potassium ion import across the plasma membrane.
positive regulation of sodium ion transmembrane transporter activity	Any process that activates or increases the frequency, rate or extent of sodium ion transmembrane transporter activity.
positive regulation of systemic arterial blood pressure	The process that increases the force with which blood travels through the systemic arterial circulatory system.
positive regulation of T cell chemotaxis	Any process that increases the rate, frequency or extent of T cell chemotaxis. T cell chemotaxis is the directed movement of a T cell in response to an external stimulus.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
regulation of cation transmembrane transport	Any process that modulates the frequency, rate or extent of cation transmembrane transport.
regulation of sodium ion transport	Any process that modulates the frequency, rate or extent of the directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
T cell receptor signaling pathway	The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell.

20 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q96J92	WNK4	Serine/threonine-protein kinase WNK4	Homo sapiens (Human)	SS
P51957	NEK4	Serine/threonine-protein kinase Nek4	Homo sapiens (Human)	PR
Q9Y3S1	WNK2	Serine/threonine-protein kinase WNK2	Homo sapiens (Human)	SS
Q9UHY1	NRBP1	Nuclear receptor-binding protein	Homo sapiens (Human)	PR
Q9BYP7	WNK3	Serine/threonine-protein kinase WNK3	Homo sapiens (Human)	SS
Q9Y2U5	MAP3K2	Mitogen-activated protein kinase kinase kinase 2	Homo sapiens (Human)	PR
Q99759	MAP3K3	Mitogen-activated protein kinase kinase kinase 3	Homo sapiens (Human)	PR
Q3UH66	Wnk2	Serine/threonine-protein kinase WNK2	Mus musculus (Mouse)	SS
Q80UE6	Wnk4	Serine/threonine-protein kinase WNK4	Mus musculus (Mouse)	SS
Q80XP9	Wnk3	Serine/threonine-protein kinase WNK3	Mus musculus (Mouse)	SS
P83741	Wnk1	Serine/threonine-protein kinase WNK1	Mus musculus (Mouse)	SS
Q6R2V0	WNK1	Serine/threonine-protein kinase WNK1	Sus scrofa (Pig)	SS
Q7TPK6	Wnk4	Serine/threonine-protein kinase WNK4	Rattus norvegicus (Rat)	SS
Q9JIH7	Wnk1	Serine/threonine-protein kinase WNK1	Rattus norvegicus (Rat)	EV
X5M5N0	wnk-1	Serine/threonine-protein kinase WNK	Caenorhabditis elegans	SS
Q8RXE5	WNK10	Probable serine/threonine-protein kinase WNK10	Arabidopsis thaliana (Mouse-ear cress)	PR
Q944Q0	WNK8	Serine/threonine-protein kinase WNK8	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LVL5	WNK4	Probable serine/threonine-protein kinase WNK4	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9STK6	WNK3	Probable serine/threonine-protein kinase WNK3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8LST2	WNK7	Probable serine/threonine-protein kinase WNK7	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MSGGAAEKQS	STPGSLFLSP	PAPAPKNGSS	SDSSVGEKLG	AAAADAVTGR	TEEYRRRRHT
70	80	90	100	110	120
MDKDSRGAAA	TTTTTEHRFF	RRSVICDSNA	TALELPGLPL	SLPQPSIPAA	VPQSAPPEPH
130	140	150	160	170	180
REETVTATAT	SQVAQQPPAA	AAPGEQAVAG	PAPSTVPSST	SKDRPVSQPS	LVGSKEEPPP
190	200	210	220	230	240
ARSGSGGGSA	KEPQEERSQQ	QDDIEELETK	AVGMSNDGRF	LKFDIEIGRG	SFKTVYKGLD
250	260	270	280	290	300
TETTVEVAWC	ELQDRKLTKS	ERQRFKEEAE	MLKGLQHPNI	VRFYDSWEST	VKGKKCIVLV
310	320	330	340	350	360
TELMTSGTLK	TYLKRFKVMK	IKVLRSWCRQ	ILKGLQFLHT	RTPPIIHRDL	KCDNIFITGP
370	380	390	400	410	420
TGSVKIGDLG	LATLKRASFA	KSVIGTPEFM	APEMYEEKYD	ESVDVYAFGM	CMLEMATSEY
430	440	450	460	470	480
PYSECQNAAQ	IYRRVTSGVK	PASFDKVAIP	EVKEIIEGCI	RQNKDERYSI	KDLLNHAFFQ
490	500	510	520	530	540
EETGVRVELA	EEDDGEKIAI	KLWLRIEDIK	KLKGKYKDNE	AIEFSFDLER	DVPEDVAQEM
550	560	570	580	590	600
VESGYVCEGD	HKTMAKAIKD	RVSLIKRKRE	QRQLVREEQE	KKKQEESSLK	QQVEQSSASQ
610	620	630	640	650	660
TGIKQLPSAS	TGIPTASTTS	ASVSTQVEPE	EPEADQHQQL	QYQQPSISVL	SDGTVDSGQG
670	680	690	700	710	720
SSVFTESRVS	SQQTVSYGSQ	HEQAHSTGTV	PGHIPSTVQA	QSQPHGVYPP	SSVAQGQSQG
730	740	750	760	770	780
QPSSSSLTGV	SSSQPIQHPQ	QQQGIQQTAP	PQQTVQYSLS	QTSTSSEATT	AQPVSQPQAP
790	800	810	820	830	840
QVLPQVSAGK	QLPVSQPVPT	IQGEPQIPVA	TQPSVVPVHS	GAHFLPVGQP	LPTPLLPQYP
850	860	870	880	890	900
VSQIPISTPH	VSTAQTGFSS	LPITMAAGIT	QPLLTLASSA	TTAAIPGVST	VVPSQLPTLL
910	920	930	940	950	960
QPVTQLPSQV	HPQLLQPAVQ	SMGIPANLGQ	AAEVPLSSGD	VLYQGFPPRL	PPQYPGDSNI
970	980	990	1000	1010	1020
APSSNVASVC	IHSTVLSPPM	PTEVLATPGY	FPTVVQPYVE	SNLLVPMGGV	GGQVQVSQPG
1030	1040	1050	1060	1070	1080
GSLAQAPTTS	SQQAVLESTQ	GVSQVAPAEP	VAVAQTQATQ	PTTLASSVDS	AHSDVASGMS
1090	1100	1110	1120	1130	1140
DGNENVPSSS	GRHEGRTTKR	HYRKSVRSRS	RHEKTSRPKL	RILNVSNKGD	RVVECQLETH
1150	1160	1170	1180	1190	1200
NRKMVTFKFD	LDGDNPEEIA	TIMVNNDFIL	AIERESFVDQ	VREIIEKADE	MLSEDVSVEP
1210	1220	1230	1240	1250	1260
EGDQGLESLQ	GKDDYGFSGS	QKLEGEFKQP	IPASSMPQQI	GIPTSSLTQV	VHSAGRRFIV
1270	1280	1290	1300	1310	1320
SPVPESRLRE	SKVFPSEITD	TVAASTAQSP	GMNLSHSASS	LSLQQAFSEL	RRAQMTEGPN
1330	1340	1350	1360	1370	1380
TAPPNFSHTG	PTFPVVPPFL	SSIAGVPTTA	AATAPVPATS	SPPNDISTSV	IQSEVTVPTE
1390	1400	1410	1420	1430	1440
EGIAGVATST	GVVTSGGLPI	PPVSESPVLS	SVVSSITIPA	VVSISTTSPS	LQVPTSTSEI
1450	1460	1470	1480	1490	1500
VVSSTALYPS	VTVSATSASA	GGSTATPGPK	PPAVVSQQAA	GSTTVGATLT	SVSTTTSFPS
1510	1520	1530	1540	1550	1560
TASQLCIQLS	SSTSTPTLAE	TVVVSAHSLD	KTSHSSTTGL	AFSLSAPSSS	SSPGAGVSSY
1570	1580	1590	1600	1610	1620
ISQPGGLHPL	VIPSVIASTP	ILPQAAGPTS	TPLLPQVPSI	PPLVQPVANV	PAVQQTLIHS
1630	1640	1650	1660	1670	1680
QPQPALLPNQ	PHTHCPEVDS	DTQPKAPGID	DIKTLEEKLR	SLFSEHSSSG	AQHASVSLET
1690	1700	1710	1720	1730	1740
SLVIESTVTP	GIPTTAVAPS	KLLTSTTSTC	LPPTNLPLGT	VALPVTPVVT	PGQVSTPVST
1750	1760	1770	1780	1790	1800
TTSGVKPGTA	PSKPPLTKAP	VLPVGTELPA	GTLPSEQLPP	FPGPSLTQSQ	QPLEDLDAQL
1810	1820	1830	1840	1850	1860
RRTLSPEMIT	VTSAVGPVSM	AAPTAITEAG	TQPQKGVSQV	KEGPVLATSS	GAGVFKMGRF
1870	1880	1890	1900	1910	1920
QVSVAADGAQ	KEGKNKSEDA	KSVHFESSTS	ESSVLSSSSP	ESTLVKPEPN	GITIPGISSD
1930	1940	1950	1960	1970	1980
VPESAHKTTA	SEAKSDTGQP	TKVGRFQVTT	TANKVGRFSV	SKTEDKITDT	KKEGPVASPP
1990	2000	2010	2020	2030	2040
FMDLEQAVLP	AVIPKKEKPE	LSEPSHLNGP	SSDPEAAFLS	RDVDDGSGSP	HSPHQLSSKS
2050	2060	2070	2080	2090	2100
LPSQNLSQSL	SNSFNSSYMS	SDNESDIEDE	DLKLELRRLR	DKHLKEIQDL	QSRQKHEIES
2110	2120	2130	2140	2150	2160
LYTKLGKVPP	AVIIPPAAPL	SGRRRRPTKS	KGSKSSRSSS	LGNKSPQLSG	NLSGQSAASV
2170	2180	2190	2200	2210	2220
LHPQQTLHPP	GNIPESGQNQ	LLQPLKPSPS	SDNLYSAFTS	DGAISVPSLS	APGQGTSSTN
2230	2240	2250	2260	2270	2280
TVGATVNSQA	AQAQPPAMTS	SRKGTFTDDL	HKLVDNWARD	AMNLSGRRGS	KGHMNYEGPG
2290	2300	2310	2320	2330	2340
MARKFSAPGQ	LCISMTSNLG	GSAPISAASA	TSLGHFTKSM	CPPQQYGFPA	TPFGAQWSGT
2350	2360	2370	2380
GGPAPQPLGQ	FQPVGTASLQ	NFNISNLQKS	ISNPPGSNLR	TT