AiPD: Autoinhibited Protein Database

Q15942

Gene name	ZYX
Protein name	Zyxin
Names	Zyxin-2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:7791
EC number
Protein Class	ZYXIN/TRIP6 (PTHR24212)

Descriptions

Zyxin is a LIM protein found prominently at sites of cell adhesion, faintly in leading lamellipodia, and transiently in cell nuclei. Zyxin displays an N-terminal proline-rich region and three C-terminal LIM domains that provide binding sites for several proteins associated with actin polymerization and intracellular signaling. The head-tail interaction of proline-rich region and LIM domains maintains zyxin in a closed conformation that limits access to binding partners.

Autoinhibitory domains (AIDs)

Target domain	384-570 (LIM domains)
Relief mechanism	PTM
Assay	Deletion assay, Mutagenesis experiment

AID

61-346 (Proline-rich region)

Target domain

384-570 (LIM domains)

Relief mechanism

PTM (Phosphorylation within proline-rich region)

Assay

Deletion assay, Mutagenesis experiment

Target domain	61-346 (Proline-rich region)
Relief mechanism	PTM
Assay	Deletion assay, Mutagenesis experiment

AID

384-570 (LIM domains)

Target domain

61-346 (Proline-rich region)

Relief mechanism

PTM (Phosphorylation within proline-rich region)

Assay

Deletion assay, Mutagenesis experiment

Accessory elements

No accessory elements

References

Hansen MD et al. (2013) "Control of actin dynamics by allosteric regulation of actin binding proteins", International review of cell and molecular biology, 303, 1-25

Nix DA et al. (2001) "Targeting of zyxin to sites of actin membrane interaction and to the nucleus", The Journal of biological chemistry, 276, 34759-67

Acevedo LA et al. (2017) "A Noncanonical Binding Site in the EVH1 Domain of Vasodilator-Stimulated Phosphoprotein Regulates Its Interactions with the Proline Rich Region of Zyxin", Biochemistry, 56, 4626-4636

Autoinhibited structure

Activated structure

1 structures for Q15942

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q15942-F1	Predicted				AlphaFoldDB

1116 variants for Q15942

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs775544608 CA4538188	2	A>E		No	ClinGen ExAC gnomAD
rs775544608	2	A>E		No	ExAC gnomAD
rs762897593	3	A>D		No	ExAC gnomAD
CA369667964 rs762897593	3	A>D		No	ClinGen ExAC gnomAD
rs762897593	3	A>V		No	ExAC gnomAD
rs762897593 CA4538189	3	A>V		No	ClinGen ExAC gnomAD
rs751245780	4	P>L		No	ExAC gnomAD
rs751245780 CA4538191	4	P>L		No	ClinGen ExAC gnomAD
rs1236736250	4	P>T		No	TOPMed
rs1236736250 COSM1622496 CA369667971	4	P>T	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
rs756942984	5	R>C		No	ExAC gnomAD
CA4538192 rs756942984	5	R>C		No	ClinGen ExAC gnomAD
CA369667991 rs756942984	5	R>G		No	ClinGen ExAC gnomAD
rs756942984	5	R>G		No	ExAC gnomAD
rs909896580	6	P>A		No	Ensembl
CA168256663 rs909896580	6	P>A		No	ClinGen Ensembl
rs1177825060	6	P>L		No	TOPMed gnomAD
CA369668027 rs1177825060	6	P>L		No	ClinGen TOPMed gnomAD
rs377574869	7	S>F		No	ESP ExAC TOPMed gnomAD
rs377574869 CA4538195	7	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA369668033 rs1446742124	7	S>P		No	ClinGen gnomAD
rs1446742124	7	S>P		No	gnomAD
rs780589471	9	A>V		No	ExAC gnomAD
CA4538196 rs780589471	9	A>V		No	ClinGen ExAC gnomAD
CA4538198 rs755405788	10	I>V		No	ClinGen ExAC gnomAD
rs755405788	10	I>V		No	ExAC gnomAD
rs748403980	13	S>L		No	ExAC TOPMed gnomAD
rs748403980 CA4538200	13	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1174016582	13	S>P		No	Ensembl
rs1174016582 CA369668148	13	S>P		No	ClinGen Ensembl
CA369668184 rs1282068653	15	S>L		No	ClinGen TOPMed gnomAD
rs1282068653	15	S>L		No	TOPMed gnomAD
rs1214665490 CA369668207	17	P>L		No	ClinGen gnomAD
rs1214665490	17	P>L		No	gnomAD
rs747127218	17	P>S		No	ExAC gnomAD
rs747127218 CA4538203	17	P>S		No	ClinGen ExAC gnomAD
rs762988726	20	Y>*		No	ExAC gnomAD
rs762988726 CA4538206	20	Y>*		No	ClinGen ExAC gnomAD
CA369668269 rs762988726	20	Y>*		No	ClinGen ExAC gnomAD
rs762988726	20	Y>*		No	ExAC gnomAD
rs1243588784	21	A>T		No	gnomAD
rs1243588784 CA369668271	21	A>T		No	ClinGen gnomAD
rs535640827	22	P>L		No	1000Genomes TOPMed gnomAD
rs535640827 CA168256747	22	P>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs535640827 CA369668301	22	P>Q		No	ClinGen 1000Genomes TOPMed gnomAD
rs535640827	22	P>Q		No	1000Genomes TOPMed gnomAD
rs1185094639	24	K>R		No	gnomAD
CA369668339 rs1185094639	24	K>R		No	ClinGen gnomAD
rs112977067 CA168256759	27	G>D		No	ClinGen Ensembl
rs112977067	27	G>D		No	Ensembl
rs919207467	27	G>R		No	TOPMed gnomAD
rs919207467 CA369668399	27	G>R		No	ClinGen TOPMed gnomAD
rs919207467	27	G>S		No	TOPMed gnomAD
rs919207467 CA168256749	27	G>S		No	ClinGen TOPMed gnomAD
rs1237454317	29	V>G		No	gnomAD
rs1237454317 CA369668440	29	V>G		No	ClinGen gnomAD
rs1421574973	31	A>V		No	gnomAD
rs1421574973 CA369668462	31	A>V		No	ClinGen gnomAD
rs910264793	33	K>E		No	gnomAD
CA168256774 rs910264793	33	K>E		No	ClinGen gnomAD
rs774213838	33	K>N		No	ExAC gnomAD
CA4538208 rs774213838	33	K>N		No	ClinGen ExAC gnomAD
rs1408858113	34	P>S		No	gnomAD
CA369668494 rs1408858113	34	P>S		No	ClinGen gnomAD
rs750053030	40	R>G		No	ExAC gnomAD
rs750053030 CA4538211	40	R>G		No	ClinGen ExAC gnomAD
CA168256837 rs11552741	40	R>L		No	ClinGen Ensembl
rs11552741	40	R>L		No	Ensembl
rs1279615804	41	P>L		No	gnomAD
CA369668673 rs1279615804	41	P>L		No	ClinGen gnomAD
CA369668662 rs1172425623	41	P>T		No	ClinGen TOPMed
rs1172425623	41	P>T		No	TOPMed
CA4538212 rs572730465	42	G>E		No	ClinGen 1000Genomes ExAC gnomAD
rs572730465	42	G>E		No	1000Genomes ExAC gnomAD
rs1217422938	42	G>R		No	gnomAD
CA369668686 rs1217422938	42	G>R		No	ClinGen gnomAD
rs745914023 CA168256844	44	S>G		No	ClinGen Ensembl
rs745914023	44	S>G		No	Ensembl
rs1198568225	45	E>K		No	gnomAD
rs1198568225 CA369668727	45	E>K		No	ClinGen gnomAD
CA4538215 rs755526884	47	P>L		No	ClinGen ExAC gnomAD
rs755526884	47	P>L		No	ExAC gnomAD
rs753279357 CA4538214	47	P>S		No	ClinGen ExAC gnomAD
rs753279357	47	P>S		No	ExAC gnomAD
CA168256859 rs758745285	48	P>L		No	ClinGen TOPMed
rs758745285	48	P>L		No	TOPMed
rs1241512199	49	A>T		No	gnomAD
rs1241512199 CA369668810	49	A>T		No	ClinGen gnomAD
CA168256871 rs935912584	50	P>A		No	ClinGen TOPMed
rs935912584	50	P>A		No	TOPMed
CA369668837 rs1459309970	50	P>L		No	ClinGen TOPMed gnomAD
rs1459309970	50	P>L		No	TOPMed gnomAD
rs753139973	51	G>E		No	ExAC gnomAD
rs753139973 CA4538217	51	G>E		No	ClinGen ExAC gnomAD
rs779242588	51	G>R		No	ExAC TOPMed gnomAD
rs779242588	51	G>R		No	ExAC TOPMed gnomAD
CA369668841 rs779242588	51	G>R		No	ClinGen ExAC TOPMed gnomAD
CA4538216 rs779242588	51	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1177190229	52	A>S		No	TOPMed gnomAD
rs1177190229 CA369668862	52	A>S		No	ClinGen TOPMed gnomAD
CA369668858 rs1177190229	52	A>T		No	ClinGen TOPMed gnomAD
rs1177190229	52	A>T		No	TOPMed gnomAD
rs780416130	53	Q>K		No	ExAC gnomAD
rs780416130 CA4538219	53	Q>K		No	ClinGen ExAC gnomAD
CA369668914 rs557783462	54	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs557783462	54	R>C		No	1000Genomes ExAC TOPMed gnomAD
rs557783462	54	R>G		No	1000Genomes ExAC TOPMed gnomAD
rs557783462 CA4538220	54	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369668906 rs557783462	54	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs557783462	54	R>S		No	1000Genomes ExAC TOPMed gnomAD
rs1172395697 CA369668943	56	Q>*		No	ClinGen gnomAD
rs1172395697	56	Q>*		No	gnomAD
rs1386128193	58	G>D		No	gnomAD
CA369668979 rs1386128193	58	G>D		No	ClinGen gnomAD
rs771207464	59	R>G		No	ExAC TOPMed gnomAD
rs771207464 CA4538221	59	R>G		No	ClinGen ExAC TOPMed gnomAD
rs781431784	59	R>Q		No	ExAC TOPMed gnomAD
rs781431784 CA4538222	59	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs576083969 CA4538223	60	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs576083969	60	V>M		No	1000Genomes ExAC TOPMed gnomAD
rs1237695017	61	G>A		No	gnomAD
rs1237695017 CA369669014	61	G>A		No	ClinGen gnomAD
rs201850974	63	I>S		No	1000Genomes ESP ExAC TOPMed gnomAD
CA4538224 rs201850974	63	I>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774124053	64	P>L		No	ExAC gnomAD
CA4538225 rs774124053	64	P>L		No	ClinGen ExAC gnomAD
rs774124053	64	P>R		No	ExAC gnomAD
CA369669053 rs774124053	64	P>R		No	ClinGen ExAC gnomAD
rs1351154192 CA369669066	65	P>L		No	ClinGen TOPMed gnomAD
rs1351154192	65	P>L		No	TOPMed gnomAD
CA4538228 rs561592577	67	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs561592577	67	P>S		No	1000Genomes ExAC TOPMed gnomAD
rs868253256	68	P>Q		No	Ensembl
CA168257001 rs868253256	68	P>Q		No	ClinGen Ensembl
rs1284187523 CA369669096	68	P>T		No	ClinGen gnomAD
rs1284187523	68	P>T		No	gnomAD
rs1200287068	69	E>G		No	gnomAD
CA369669111 rs1200287068	69	E>G		No	ClinGen gnomAD
rs536050297 CA4538254	70	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs536050297	70	D>G		No	1000Genomes ExAC TOPMed gnomAD
rs765958504 CA4538230	70	D>N		No	ClinGen ExAC gnomAD
rs765958504	70	D>N		No	ExAC gnomAD
CA4538255 rs149872144	71	F>V		No	ClinGen ESP ExAC gnomAD
rs149872144	71	F>V		No	ESP ExAC gnomAD
CA4538257 rs757664388	74	P>H		No	ClinGen ExAC TOPMed gnomAD
rs757664388	74	P>H		No	ExAC TOPMed gnomAD
CA4538258 rs757664388	74	P>L		No	ClinGen ExAC TOPMed gnomAD
rs757664388	74	P>L		No	ExAC TOPMed gnomAD
rs1197288848 CA369669613	75	P>S		No	ClinGen TOPMed gnomAD
rs1197288848	75	P>S		No	TOPMed gnomAD
rs1462051496	76	P>R		No	TOPMed gnomAD
rs1462051496 CA369669626	76	P>R		No	ClinGen TOPMed gnomAD
rs1238042211	76	P>S		No	gnomAD
CA369669624 rs1238042211	76	P>S		No	ClinGen gnomAD
CA4538260 rs199506559	77	P>L		No	ClinGen ExAC TOPMed gnomAD
rs199506559	77	P>L		No	ExAC TOPMed gnomAD
CA4538259 rs143893236	77	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143893236	77	P>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs143893236	77	P>T		No	1000Genomes ESP ExAC TOPMed gnomAD
CA369669628 rs143893236	77	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs908949493 CA168257572	78	L>F		No	ClinGen TOPMed
rs908949493	78	L>F		No	TOPMed
CA4538261 rs752397661	80	G>E		No	ClinGen ExAC TOPMed gnomAD
rs752397661	80	G>E		No	ExAC TOPMed gnomAD
rs369474210	84	D>Y		No	ESP TOPMed gnomAD
rs369474210 CA168257595	84	D>Y		No	ClinGen ESP TOPMed gnomAD
rs1273690059	85	A>V		No	TOPMed
rs1273690059 CA369669702	85	A>V		No	ClinGen TOPMed
rs200777607	86	E>V		No	ExAC TOPMed gnomAD
CA4538264 rs200777607	86	E>V		No	ClinGen ExAC TOPMed gnomAD
rs372036113	87	G>C		No	1000Genomes ESP ExAC TOPMed gnomAD
CA168257627 rs372036113	87	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4538265 rs372036113	87	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372036113	87	G>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1395668802	87	G>V		No	TOPMed gnomAD
rs1395668802 CA369669717	87	G>V		No	ClinGen TOPMed gnomAD
rs776326889	88	A>D		No	ExAC TOPMed gnomAD
CA4538267 rs776326889	88	A>D		No	ClinGen ExAC TOPMed gnomAD
rs770694651	88	A>T		No	ExAC gnomAD
CA4538266 rs770694651	88	A>T		No	ClinGen ExAC gnomAD
CA369669750 rs1319200210	91	G>D		No	ClinGen TOPMed
rs1319200210	91	G>D		No	TOPMed
rs745510004	92	A>D		No	ExAC TOPMed gnomAD
rs745510004 CA4538268	92	A>D		No	ClinGen ExAC TOPMed gnomAD
CA369669760 rs745510004	92	A>G		No	ClinGen ExAC TOPMed gnomAD
rs745510004	92	A>G		No	ExAC TOPMed gnomAD
rs774881530	94	P>L		No	ExAC gnomAD
CA4538270 rs774881530	94	P>L		No	ClinGen ExAC gnomAD
CA4538271 rs762481051	95	P>L		No	ClinGen ExAC gnomAD
rs762481051	95	P>L		No	ExAC gnomAD
rs1236052188	95	P>S		No	gnomAD
rs1236052188 CA369669788	95	P>S		No	ClinGen gnomAD
rs1180906261	96	P>L		No	gnomAD
rs1180906261 CA369669800	96	P>L		No	ClinGen gnomAD
rs1586561247 CA369669798	96	P>S		No	ClinGen Ensembl
rs1586561247	96	P>S		No	Ensembl
rs568870035	97	P>L		No	ExAC TOPMed gnomAD
CA4538274 rs568870035	97	P>L		No	ClinGen ExAC TOPMed gnomAD
CA369669807 rs1263377683	97	P>S		No	ClinGen gnomAD
rs1263377683	97	P>S		No	gnomAD
CA4538275 rs762325084	98	P>S		No	ClinGen ExAC TOPMed
rs762325084	98	P>S		No	ExAC TOPMed
rs557820335	99	P>L		No	1000Genomes ExAC TOPMed gnomAD
CA4538277 rs557820335	99	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs557820335	99	P>R		No	1000Genomes ExAC TOPMed gnomAD
CA4538276 rs557820335	99	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766575637	101	E>K		No	ExAC gnomAD
CA4538280 rs766575637	101	E>K		No	ClinGen ExAC gnomAD
rs865877627	103	S>L		No	Ensembl
rs865877627 CA168257692	103	S>L		No	ClinGen Ensembl
rs576002541 CA4538281	105	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs576002541	105	P>S		No	1000Genomes ExAC TOPMed gnomAD
rs576002541	105	P>T		No	1000Genomes ExAC TOPMed gnomAD
rs576002541 CA4538282	105	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777739987	106	P>S		No	ExAC gnomAD
rs777739987 CA4538283	106	P>S		No	ClinGen ExAC gnomAD
rs1465309774	107	A>E		No	gnomAD
CA369669905 rs1465309774	107	A>E		No	ClinGen gnomAD
CA369669904 rs1361893336	107	A>S		No	ClinGen TOPMed
rs1361893336	107	A>S		No	TOPMed
rs757116298 CA168257711	108	P>A		No	ClinGen ExAC TOPMed gnomAD
rs757116298	108	P>A		No	ExAC TOPMed gnomAD
rs780860006	108	P>H		No	ExAC TOPMed gnomAD
CA4538287 rs780860006	108	P>H		No	ClinGen ExAC TOPMed gnomAD
COSM1699515 rs780860006 CA4538286	108	P>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs780860006	108	P>L		No	ExAC TOPMed gnomAD
rs757116298	108	P>S		No	ExAC TOPMed gnomAD
rs757116298 CA4538285	108	P>S		No	ClinGen ExAC TOPMed gnomAD
rs769358547	110	E>A		No	ExAC TOPMed gnomAD
rs769358547 CA4538289	110	E>A		No	ClinGen ExAC TOPMed gnomAD
rs769358547 CA369669929	110	E>G		No	ClinGen ExAC TOPMed gnomAD
rs769358547	110	E>G		No	ExAC TOPMed gnomAD
rs769358547	110	E>V		No	ExAC TOPMed gnomAD
rs769358547 CA4538288	110	E>V		No	ClinGen ExAC TOPMed gnomAD
rs889995952	111	E>K		No	TOPMed gnomAD
rs889995952 CA168257732	111	E>K		No	ClinGen TOPMed gnomAD
CA369669957 rs1217719584	113	I>L		No	ClinGen TOPMed gnomAD
rs1217719584	113	I>L		No	TOPMed gnomAD
rs1168420417 CA369670003	117	P>L		No	ClinGen TOPMed
rs1168420417	117	P>L		No	TOPMed
rs768266251 CA4538291	118	P>L		No	ClinGen ExAC TOPMed gnomAD
rs768266251	118	P>L		No	ExAC TOPMed gnomAD
rs768266251 CA369670011	118	P>R		No	ClinGen ExAC TOPMed gnomAD
rs768266251	118	P>R		No	ExAC TOPMed gnomAD
rs768080249	121	P>A		No	ExAC TOPMed gnomAD
CA4538296 rs768080249	121	P>A		No	ClinGen ExAC TOPMed gnomAD
CA4538299 rs761060898	121	P>Q		No	ClinGen ExAC TOPMed
rs761060898	121	P>Q		No	ExAC TOPMed
CA4538297 rs768080249	121	P>T		No	ClinGen ExAC TOPMed gnomAD
rs768080249	121	P>T		No	ExAC TOPMed gnomAD
rs566953376	122	E>A		No	1000Genomes ExAC TOPMed gnomAD
CA4538302 rs566953376	122	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA168257783 rs386718789	122	E>P		No	ClinGen Ensembl
rs386718789	122	E>P		No	Ensembl
CA4538301 rs552012306	122	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs552012306	122	E>Q		No	1000Genomes ExAC TOPMed gnomAD
rs1158978594 CA369670053	123	E>K		No	ClinGen gnomAD
rs1158978594	123	E>K		No	gnomAD
rs752713313	124	E>D		No	ExAC gnomAD
rs752713313 CA4538304	124	E>D		No	ClinGen ExAC gnomAD
rs201793399	124	E>G		No	gnomAD
CA168257811 rs201793399	124	E>G		No	ClinGen gnomAD
CA4538305 rs757205895	125	G>E		No	ClinGen ExAC TOPMed gnomAD
rs757205895	125	G>E		No	ExAC TOPMed gnomAD
rs1367467820	130	P>L		No	gnomAD
CA369670116 rs1367467820	130	P>L		No	ClinGen gnomAD
rs540870913	130	P>S		No	1000Genomes ExAC gnomAD
rs540870913 CA4538306	130	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA369670118 rs1586561563	131	I>L		No	ClinGen Ensembl
rs1586561563	131	I>L		No	Ensembl
rs202141975	131	I>T		No	1000Genomes ExAC TOPMed gnomAD
rs202141975 CA4538307	131	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1029777842	132	P>L		No	Ensembl
rs1029777842 CA168257854	132	P>L		No	ClinGen Ensembl
rs1314592174	133	P>S		No	TOPMed
CA369670128 rs1314592174	133	P>S		No	ClinGen TOPMed
CA369670142 rs1342700358	135	P>A		No	ClinGen TOPMed gnomAD
rs1342700358	135	P>A		No	TOPMed gnomAD
CA369670140 rs1342700358	135	P>T		No	ClinGen TOPMed gnomAD
rs1342700358	135	P>T		No	TOPMed gnomAD
rs748943901	136	Q>*		No	ExAC
CA4538310 rs748943901	136	Q>*		No	ClinGen ExAC
CA369670169 rs1489983890	137	P>L		No	ClinGen TOPMed
rs1489983890	137	P>L		No	TOPMed
rs770038397	139	E>A		No	ExAC TOPMed gnomAD
rs770038397 CA4538343	139	E>A		No	ClinGen ExAC TOPMed gnomAD
rs200212686	139	E>K		No	1000Genomes ExAC TOPMed gnomAD
rs200212686 CA4538342	139	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1586561999	141	V>A		No	Ensembl
CA369670197 rs1586561999	141	V>A		No	ClinGen Ensembl
rs775663781	142	S>N		No	ExAC gnomAD
rs775663781 CA4538344	142	S>N		No	ClinGen ExAC gnomAD
rs1490962833	143	S>R		No	TOPMed
CA369670206 rs1490962833	143	S>R		No	ClinGen TOPMed
rs1259156386 CA369670225	145	D>G		No	ClinGen TOPMed
rs1259156386	145	D>G		No	TOPMed
rs918739970 CA168258131	147	E>K		No	ClinGen Ensembl
rs918739970	147	E>K		No	Ensembl
rs762999743	149	D>N		No	ExAC gnomAD
rs762999743 CA4538345	149	D>N		No	ClinGen ExAC gnomAD
rs373618081	150	S>C		No	ESP ExAC gnomAD
CA4538346 rs373618081	150	S>C		No	ClinGen ESP ExAC gnomAD
rs373618081	150	S>F		No	ESP ExAC gnomAD
rs373618081 COSM1636848 CA168258141	150	S>F	bone [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs1315933427	150	S>P		No	TOPMed gnomAD
CA369670258 rs1315933427	150	S>P		No	ClinGen TOPMed gnomAD
rs774226385 CA4538347	151	L>V		No	ClinGen ExAC TOPMed gnomAD
rs774226385	151	L>V		No	ExAC TOPMed gnomAD
rs753719793	156	D>G		No	ExAC gnomAD
rs753719793 CA4538350	156	D>G		No	ClinGen ExAC gnomAD
rs766180041 CA4538349	156	D>Y		No	ClinGen ExAC gnomAD
rs766180041	156	D>Y		No	ExAC gnomAD
rs377594543 CA4538352	158	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs377594543	158	M>T		No	ESP ExAC TOPMed gnomAD
rs757916464	160	K>N		No	ExAC
CA4538354 rs757916464	160	K>N		No	ClinGen ExAC
rs752388633 CA4538353	160	K>R		No	ClinGen ExAC gnomAD
rs752388633	160	K>R		No	ExAC gnomAD
rs879229436	161	N>I		No	Ensembl
rs879229436 CA168258169	161	N>I		No	ClinGen Ensembl
CA369670332 rs1426408570	162	D>E		No	ClinGen gnomAD
rs1426408570	162	D>E		No	gnomAD
rs746452071	162	D>G		No	ExAC gnomAD
rs746452071 CA4538356	162	D>G		No	ClinGen ExAC gnomAD
rs777343615	162	D>N		No	ExAC gnomAD
COSM484984 rs777343615 CA4538355	162	D>N	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1166260058 CA369670339	163	P>L		No	ClinGen gnomAD
rs1166260058	163	P>L		No	gnomAD
rs1404789540	164	F>L		No	gnomAD
CA369670347 rs1404789540	164	F>L		No	ClinGen gnomAD
CA168258171 rs971750280	165	K>I		No	ClinGen TOPMed
rs971750280	165	K>I		No	TOPMed
rs757810719	166	A>P		No	ExAC gnomAD
CA168258189 rs757810719	166	A>P		No	ClinGen ExAC gnomAD
rs757810719	166	A>T		No	ExAC gnomAD
rs757810719 CA4538357	166	A>T		No	ClinGen ExAC gnomAD
CA369670358 rs1331792896	166	A>V		No	ClinGen gnomAD
rs1331792896	166	A>V		No	gnomAD
rs781638797	167	R>G		No	ExAC TOPMed
CA369670359 rs781638797	167	R>G		No	ClinGen ExAC TOPMed
rs746277510	167	R>L		No	ExAC TOPMed gnomAD
CA168258213 rs746277510 COSM1548903	167	R>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs746277510	167	R>Q		No	ExAC TOPMed gnomAD
rs746277510 CA4538360	167	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs781638797 CA4538359	167	R>W		No	ClinGen ExAC TOPMed
rs781638797	167	R>W		No	ExAC TOPMed
rs1452457167	170	S>Y		No	gnomAD
rs1452457167 CA369670387	170	S>Y		No	ClinGen gnomAD
rs1563106605	171	G>E		No	Ensembl
rs1563106605 CA369670391	171	G>E		No	ClinGen Ensembl
rs1205683567 CA369670404	173	V>L		No	ClinGen TOPMed
rs1205683567	173	V>L		No	TOPMed
rs372960710	174	P>A		No	ESP ExAC TOPMed gnomAD
CA369670408 rs372960710	174	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs372960710	174	P>S		No	ESP ExAC TOPMed gnomAD
CA4538388 rs372960710	174	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs144879938	177	V>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs144879938 CA4538389	177	V>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200531129	178	A>S		No	ExAC gnomAD
rs200531129 CA4538390	178	A>S		No	ClinGen ExAC gnomAD
rs762622420 CA4538391	178	A>V		No	ClinGen ExAC gnomAD
rs762622420	178	A>V		No	ExAC gnomAD
rs1241970536	181	F>C		No	gnomAD
rs1241970536 CA369670451	181	F>C		No	ClinGen gnomAD
rs544777212	182	S>T		No	1000Genomes ExAC gnomAD
rs544777212 CA4538392	182	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs555454253 CA4538393	183	S>F		No	ClinGen ExAC TOPMed gnomAD
rs555454253	183	S>F		No	ExAC TOPMed gnomAD
rs918877234 CA168258421	184	K>Q		No	ClinGen Ensembl
rs918877234	184	K>Q		No	Ensembl
rs761379172	186	S>G		No	ExAC TOPMed gnomAD
rs761379172 CA4538394	186	S>G		No	ClinGen ExAC TOPMed gnomAD
CA369670501 rs1213601326	189	P>A		No	ClinGen gnomAD
rs1213601326	189	P>A		No	gnomAD
rs1239258603	189	P>R		No	TOPMed gnomAD
rs1239258603 CA369670503	189	P>R		No	ClinGen TOPMed gnomAD
rs551274529 CA168258429	190	A>V		No	ClinGen gnomAD
rs551274529	190	A>V		No	gnomAD
rs1382672291	191	A>T		No	gnomAD
CA369670511 rs1382672291	191	A>T		No	ClinGen gnomAD
rs142949198	192	G>R		No	ESP ExAC TOPMed gnomAD
CA4538397 rs142949198	192	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs142949198 CA369670517	192	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs142949198	192	G>R		No	ESP ExAC TOPMed gnomAD
rs142949198 CA4538398	192	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs142949198	192	G>W		No	ESP ExAC TOPMed gnomAD
rs61742271	193	G>D		No	1000Genomes ESP ExAC TOPMed gnomAD
rs61742271 CA4538400 RCV000898015	193	G>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1459365433 CA369670531	194	T>I		No	ClinGen gnomAD
rs1459365433	194	T>I		No	gnomAD
CA4538403 rs141009707	196	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs141009707	196	P>L		No	ESP ExAC TOPMed gnomAD
rs1400887734	196	P>T		No	gnomAD
CA369670538 rs1400887734	196	P>T		No	ClinGen gnomAD
rs778014646	199	P>L		No	ExAC gnomAD
rs778014646 CA4538404	199	P>L		No	ClinGen ExAC gnomAD
rs150223874	200	W>*		No	ESP ExAC TOPMed gnomAD
rs150223874 CA369670562	200	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs150223874	200	W>L		No	ESP ExAC TOPMed gnomAD
CA4538405 rs150223874 COSM1548902	200	W>L	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs371699092 CA369670579	202	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs371699092	202	S>C		No	ESP ExAC TOPMed gnomAD
rs371699092	202	S>F		No	ESP ExAC TOPMed gnomAD
rs371699092 CA4538406	202	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1586562756	202	S>P		No	Ensembl
rs1586562756 CA369670576	202	S>P		No	ClinGen Ensembl
rs775264460	203	P>H		No	ExAC gnomAD
CA4538407 rs775264460	203	P>H		No	ClinGen ExAC gnomAD
rs775264460 CA4538408	203	P>L		No	ClinGen ExAC gnomAD
rs775264460	203	P>L		No	ExAC gnomAD
CA4538409 rs768328401	204	S>F		No	ClinGen ExAC gnomAD
rs768328401	204	S>F		No	ExAC gnomAD
CA4538410 rs774127867	205	S>G		No	ClinGen ExAC gnomAD
rs774127867	205	S>G		No	ExAC gnomAD
rs761468586	206	S>F		No	ExAC gnomAD
rs761468586 CA4538411	206	S>F		No	ClinGen ExAC gnomAD
rs1586562791 CA369670597	206	S>P		No	ClinGen Ensembl
rs1586562791	206	S>P		No	Ensembl
rs749965281 CA4538413	208	P>L		No	ClinGen ExAC gnomAD
rs749965281	208	P>L		No	ExAC gnomAD
rs1251103052 CA369670609	208	P>T		No	ClinGen gnomAD
rs1251103052	208	P>T		No	gnomAD
CA4538416 rs766959713	210	P>L		No	ClinGen ExAC gnomAD
rs766959713	210	P>L		No	ExAC gnomAD
rs760146994 CA4538415	210	P>T		No	ClinGen ExAC TOPMed gnomAD
rs760146994	210	P>T		No	ExAC TOPMed gnomAD
rs1185483802	212	V>A		No	TOPMed
CA369670638 rs1185483802	212	V>A		No	ClinGen TOPMed
CA4538417 rs146778339	213	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs146778339	213	P>L		No	ESP ExAC TOPMed gnomAD
rs779152541	215	P>L		No	ExAC TOPMed gnomAD
rs779152541 CA4538419	215	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1005253583	215	P>S		No	gnomAD
rs1005253583 CA168258577	215	P>S		No	ClinGen gnomAD
rs866854302	216	A>S		No	gnomAD
CA369670669 rs866854302	216	A>S		No	ClinGen gnomAD
rs866854302	216	A>T		No	gnomAD
CA168258596 rs866854302	216	A>T		No	ClinGen gnomAD
rs778104440	216	A>V		No	ExAC gnomAD
CA4538422 rs778104440	216	A>V		No	ClinGen ExAC gnomAD
rs1359632442 CA369670740	222	F>L		No	ClinGen TOPMed
rs1359632442	222	F>L		No	TOPMed
rs11978404	223	H>L		No	1000Genomes ESP ExAC TOPMed gnomAD
CA4538424 rs11978404 VAR_034081	223	H>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs780102608 CA4538425	223	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs780102608	223	H>Q		No	ExAC TOPMed gnomAD
rs11978404	223	H>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs11978404 CA168258611	223	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369670770 rs1586562934	225	Q>H		No	ClinGen Ensembl
rs1586562934	225	Q>H		No	Ensembl
rs749185061	227	Q>L		No	ExAC gnomAD
rs749185061 CA4538428	227	Q>L		No	ClinGen ExAC gnomAD
rs1343009979 CA369670796	228	P>S		No	ClinGen TOPMed gnomAD
rs1343009979	228	P>S		No	TOPMed gnomAD
rs1343009979	228	P>T		No	TOPMed gnomAD
rs1343009979 CA369670793	228	P>T		No	ClinGen TOPMed gnomAD
rs774037429	229	Q>*		No	ExAC gnomAD
CA4538430 rs774037429	229	Q>*		No	ClinGen ExAC gnomAD
CA168258626 rs938753437	230	P>L		No	ClinGen TOPMed gnomAD
rs938753437	230	P>L		No	TOPMed gnomAD
CA4538432 rs771753572	230	P>S		No	ClinGen ExAC gnomAD
rs771753572	230	P>S		No	ExAC gnomAD
CA369670822 rs866385748	231	K>E		No	ClinGen gnomAD
rs866385748	231	K>E		No	gnomAD
rs866385748 CA168258628	231	K>Q		No	ClinGen gnomAD
rs866385748	231	K>Q		No	gnomAD
rs772829759	232	P>S		No	ExAC gnomAD
rs772829759 CA4538433	232	P>S		No	ClinGen ExAC gnomAD
rs760238646	233	Q>E		No	ExAC gnomAD
rs760238646 CA4538434	233	Q>E		No	ClinGen ExAC gnomAD
CA4538435 rs765804081	233	Q>P		No	ClinGen ExAC gnomAD
rs765804081	233	Q>P		No	ExAC gnomAD
CA4538436 rs143822276	234	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143822276	234	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs759976721	235	Q>H		No	ExAC TOPMed gnomAD
rs759976721 CA4538437	235	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA4538438 rs147284254	236	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147284254	236	L>I		No	1000Genomes ESP ExAC TOPMed gnomAD
CA4538440 rs758810416	237	H>L		No	ClinGen ExAC TOPMed gnomAD
rs758810416	237	H>L		No	ExAC TOPMed gnomAD
CA369670891 rs758810416	237	H>R		No	ClinGen ExAC TOPMed gnomAD
rs758810416	237	H>R		No	ExAC TOPMed gnomAD
rs753147107 CA4538439	237	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs753147107	237	H>Y		No	ExAC TOPMed gnomAD
rs764464732	238	V>I		No	ExAC TOPMed gnomAD
CA4538441 rs764464732	238	V>I		No	ClinGen ExAC TOPMed gnomAD
rs751825000 CA4538442	239	Q>*		No	ClinGen ExAC gnomAD
rs751825000	239	Q>*		No	ExAC gnomAD
rs1368863240	242	T>P		No	gnomAD
rs1368863240 CA369670948	242	T>P		No	ClinGen gnomAD
rs781144141 CA4538444	244	P>A		No	ClinGen ExAC gnomAD
rs781144141	244	P>A		No	ExAC gnomAD
rs781144141 CA369670984	244	P>S		No	ClinGen ExAC gnomAD
rs781144141	244	P>S		No	ExAC gnomAD
rs368508771	245	V>L		No	ESP gnomAD
rs368508771	245	V>L		No	ESP gnomAD
CA369671000 rs368508771	245	V>L		No	ClinGen ESP gnomAD
CA168258672 rs368508771	245	V>L		No	ClinGen ESP gnomAD
CA168258664 rs368508771	245	V>M		No	ClinGen ESP gnomAD
rs368508771	245	V>M		No	ESP gnomAD
rs745909420 CA4538445	247	L>S		No	ClinGen ExAC TOPMed gnomAD
rs745909420	247	L>S		No	ExAC TOPMed gnomAD
rs754902516	248	A>V		No	ExAC gnomAD
CA4538446 rs754902516	248	A>V		No	ClinGen ExAC gnomAD
rs747986526	250	T>A		No	ExAC gnomAD
rs747986526 CA4538449	250	T>A		No	ClinGen ExAC gnomAD
rs772916908 CA4538450	250	T>I		No	ClinGen ExAC TOPMed gnomAD
rs772916908	250	T>I		No	ExAC TOPMed gnomAD
rs747986526	250	T>P		No	ExAC gnomAD
rs747986526 CA4538448	250	T>P		No	ClinGen ExAC gnomAD
rs1241496469	251	Q>R		No	TOPMed gnomAD
CA369671075 rs1241496469	251	Q>R		No	ClinGen TOPMed gnomAD
CA4538452 rs770562804	252	P>L		No	ClinGen ExAC TOPMed gnomAD
rs770562804	252	P>L		No	ExAC TOPMed gnomAD
CA4538451 rs746670237	252	P>S		No	ClinGen ExAC TOPMed gnomAD
rs746670237	252	P>S		No	ExAC TOPMed gnomAD
rs746670237	252	P>T		No	ExAC TOPMed gnomAD
CA369671081 rs746670237	252	P>T		No	ClinGen ExAC TOPMed gnomAD
rs759051479	253	R>*		No	ExAC TOPMed gnomAD
rs759051479 CA4538454	253	R>*		No	ClinGen ExAC TOPMed gnomAD
rs559856196	253	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs559856196 CA4538455	253	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1317694501 CA369671122	255	P>H		No	ClinGen gnomAD
rs1317694501	255	P>H		No	gnomAD
rs763473535	255	P>S		No	ExAC gnomAD
rs763473535 CA4538457	255	P>S		No	ClinGen ExAC gnomAD
rs372271491	260	P>L		No	ESP ExAC TOPMed gnomAD
rs372271491 CA4538460	260	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4538461 rs372271491	260	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs372271491	260	P>R		No	ESP ExAC TOPMed gnomAD
CA168258754 rs1007276007	260	P>S		No	ClinGen TOPMed gnomAD
rs1007276007	260	P>S		No	TOPMed gnomAD
rs1309571848 CA369671212	261	A>P		No	ClinGen TOPMed gnomAD
rs1309571848	261	A>P		No	TOPMed gnomAD
rs1309571848	261	A>S		No	TOPMed gnomAD
rs1309571848 CA369671214	261	A>S		No	ClinGen TOPMed gnomAD
rs1480630005	262	P>S		No	TOPMed
rs1480630005 CA369671229	262	P>S		No	ClinGen TOPMed
rs1352329533	263	A>S		No	gnomAD
CA369671242 rs1352329533	263	A>S		No	ClinGen gnomAD
rs750508246	264	P>L		No	ExAC TOPMed gnomAD
rs750508246 CA4538462	264	P>L		No	ClinGen ExAC TOPMed gnomAD
rs756197703	265	K>E		No	ExAC TOPMed gnomAD
CA4538463 rs756197703	265	K>E		No	ClinGen ExAC TOPMed gnomAD
rs143565645	266	F>S		No	ESP ExAC TOPMed gnomAD
CA4538464 rs143565645	266	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA168258854 rs990433070	267	S>F		No	ClinGen TOPMed gnomAD
rs990433070	267	S>F		No	TOPMed gnomAD
rs748074626 CA4538465	267	S>P		No	ClinGen ExAC gnomAD
rs748074626	267	S>P		No	ExAC gnomAD
rs758266725	268	P>A		No	ExAC gnomAD
CA4538466 rs758266725	268	P>A		No	ClinGen ExAC gnomAD
rs746771940	270	T>I		No	ExAC gnomAD
rs746771940 CA4538468	270	T>I		No	ClinGen ExAC gnomAD
rs1261789987	271	P>L		No	TOPMed
rs1261789987 CA369671361	271	P>L		No	ClinGen TOPMed
rs1158139107	272	K>E		No	gnomAD
CA369671367 rs1158139107	272	K>E		No	ClinGen gnomAD
rs770525570 CA4538469	272	K>R		No	ClinGen ExAC gnomAD
rs770525570	272	K>R		No	ExAC gnomAD
CA4538471 rs745424630	277	A>T		No	ClinGen ExAC gnomAD
rs745424630	277	A>T		No	ExAC gnomAD
rs1333751289	279	K>R		No	gnomAD
rs1333751289 CA369671477	279	K>R		No	ClinGen gnomAD
CA4538474 rs763565313	282	P>L		No	ClinGen ExAC gnomAD
rs763565313	282	P>L		No	ExAC gnomAD
CA369671519 rs1346727762	282	P>S		No	ClinGen TOPMed
rs1346727762	282	P>S		No	TOPMed
CA369671548 rs1177332747	286	G>C		No	ClinGen TOPMed gnomAD
rs1177332747	286	G>C		No	TOPMed gnomAD
rs774885995	288	S>F		No	ExAC gnomAD
CA4538476 rs774885995	288	S>F		No	ClinGen ExAC gnomAD
rs1234543377	291	Q>*		No	TOPMed gnomAD
rs1234543377 CA369671586	291	Q>*		No	ClinGen TOPMed gnomAD
rs762207034	294	Q>K		No	ExAC gnomAD
CA4538477 rs762207034	294	Q>K		No	ClinGen ExAC gnomAD
rs1333641305	295	K>Q		No	gnomAD
CA369671628 rs1333641305	295	K>Q		No	ClinGen gnomAD
rs1334038210	296	L>M		No	gnomAD
CA369671643 rs1334038210	296	L>M		No	ClinGen gnomAD
CA369671660 rs1319301165	297	G>E		No	ClinGen TOPMed
rs1319301165	297	G>E		No	TOPMed
rs370980655 CA4538478	298	H>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370980655	298	H>N		No	1000Genomes ExAC TOPMed gnomAD
rs1586563443 CA369671668	298	H>P		No	ClinGen Ensembl
rs1586563443	298	H>P		No	Ensembl
rs370980655 CA4538479	298	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370980655	298	H>Y		No	1000Genomes ExAC TOPMed gnomAD
CA369671684 rs1436350308	299	P>L		No	ClinGen TOPMed gnomAD
rs1436350308	299	P>L		No	TOPMed gnomAD
CA369671682 rs1436350308	299	P>R		No	ClinGen TOPMed gnomAD
rs1436350308	299	P>R		No	TOPMed gnomAD
rs1175829234	299	P>S		No	TOPMed
rs1175829234 CA369671678	299	P>S		No	ClinGen TOPMed
rs368759415 CA4538482 COSM1086763	300	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs368759415	300	E>K		No	ESP ExAC TOPMed gnomAD
rs777650132 CA4538484	301	A>V		No	ClinGen ExAC gnomAD
rs777650132	301	A>V		No	ExAC gnomAD
rs1417836675	302	L>F		No	TOPMed gnomAD
rs1417836675 CA369671713	302	L>F		No	ClinGen TOPMed gnomAD
CA4538485 rs751355894	302	L>P		No	ClinGen ExAC TOPMed gnomAD
rs751355894	302	L>P		No	ExAC TOPMed gnomAD
CA369671737 rs1586563502	304	A>V		No	ClinGen Ensembl
rs1586563502	304	A>V		No	Ensembl
rs140256828 CA168258977	305	G>S		No	ClinGen ESP TOPMed gnomAD
rs140256828	305	G>S		No	ESP TOPMed gnomAD
rs1045708388	306	T>I		No	TOPMed gnomAD
CA168258987 rs1045708388	306	T>I		No	ClinGen TOPMed gnomAD
rs1045708388	306	T>K		No	TOPMed gnomAD
CA168258989 rs1045708388	306	T>K		No	ClinGen TOPMed gnomAD
rs1371185150 CA369671761	307	G>A		No	ClinGen gnomAD
rs1371185150	307	G>A		No	gnomAD
CA168258990 rs915946891	308	S>P		No	ClinGen TOPMed gnomAD
rs915946891	308	S>P		No	TOPMed gnomAD
CA4538487 rs780770476	309	P>S		No	ClinGen ExAC TOPMed gnomAD
rs780770476	309	P>S		No	ExAC TOPMed gnomAD
rs1290865440 CA369671777	310	Q>E		No	ClinGen gnomAD
rs1290865440	310	Q>E		No	gnomAD
CA369671786 rs1586563590	310	Q>H		No	ClinGen Ensembl
rs1586563590	310	Q>H		No	Ensembl
CA4538489 rs769510502	311	P>L		No	ClinGen ExAC TOPMed gnomAD
rs769510502	311	P>L		No	ExAC TOPMed gnomAD
rs142720695	311	P>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs142720695 CA4538488	311	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1037607113	312	P>H		No	TOPMed
CA168259022 rs1037607113	312	P>H		No	ClinGen TOPMed
CA369671811 rs1271803770	313	S>T		No	ClinGen gnomAD
rs1271803770	313	S>T		No	gnomAD
CA4538490 rs548993872	315	T>P		No	ClinGen 1000Genomes ExAC gnomAD
rs548993872	315	T>P		No	1000Genomes ExAC gnomAD
rs1279632404 CA369671848	316	Y>C		No	ClinGen gnomAD
rs1279632404	316	Y>C		No	gnomAD
rs774899170 CA369671857	317	A>D		No	ClinGen ExAC TOPMed gnomAD
rs774899170	317	A>D		No	ExAC TOPMed gnomAD
rs769326410 CA4538492	317	A>T		No	ClinGen ExAC gnomAD
rs769326410	317	A>T		No	ExAC gnomAD
CA4538493 rs774899170	317	A>V		No	ClinGen ExAC TOPMed gnomAD
rs774899170	317	A>V		No	ExAC TOPMed gnomAD
rs898245273	320	R>K		No	Ensembl
rs898245273 CA168259049	320	R>K		No	ClinGen Ensembl
rs762142792 CA4538494	320	R>W		No	ClinGen ExAC gnomAD
rs762142792	320	R>W		No	ExAC gnomAD
rs202040821 CA4538496	321	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202040821	321	E>K		No	1000Genomes ExAC TOPMed gnomAD
rs202040821 CA4538495	321	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202040821	321	E>Q		No	1000Genomes ExAC TOPMed gnomAD
rs140225548 CA4538498	322	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140225548	322	K>N		No	1000Genomes ESP ExAC TOPMed gnomAD
rs753952490	323	P>H		No	ExAC gnomAD
rs753952490 CA4538499	323	P>H		No	ClinGen ExAC gnomAD
CA369671917 rs1173498341	323	P>S		No	ClinGen TOPMed gnomAD
rs1173498341	323	P>S		No	TOPMed gnomAD
rs1173498341 CA369671918	323	P>T		No	ClinGen TOPMed gnomAD
rs1173498341	323	P>T		No	TOPMed gnomAD
rs1436198853	324	R>Q		No	gnomAD
CA369671929 rs1436198853	324	R>Q		No	ClinGen gnomAD
rs78619753	327	E>V		No	Ensembl
rs78619753 CA168259082	327	E>V		No	ClinGen Ensembl
CA369672035 rs1170286756	328	K>R		No	ClinGen TOPMed
rs1170286756	328	K>R		No	TOPMed
rs202187082	330	H>N		No	TOPMed gnomAD
CA168259086 rs202187082	330	H>N		No	ClinGen TOPMed gnomAD
CA4538502 rs199941849	330	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199941849	330	H>Q		No	1000Genomes ExAC TOPMed gnomAD
CA369672050 rs199941849	330	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199941849	330	H>Q		No	1000Genomes ExAC TOPMed gnomAD
rs373067674	330	H>R		No	ESP ExAC TOPMed gnomAD
rs373067674 CA4538501	330	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA369672057 rs201855372	332	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201855372	332	V>L		No	1000Genomes ExAC TOPMed gnomAD
CA4538505 rs201855372	332	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201855372	332	V>M		No	1000Genomes ExAC TOPMed gnomAD
rs1275189743	333	P>S		No	gnomAD
CA369672064 rs1275189743	333	P>S		No	ClinGen gnomAD
rs201066030 CA4538506	334	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201066030	334	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD
CA4538507 rs201066030	334	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201066030	334	P>R		No	1000Genomes ESP ExAC TOPMed gnomAD
CA4538508 rs748856106	335	P>L		No	ClinGen ExAC TOPMed gnomAD
rs748856106	335	P>L		No	ExAC TOPMed gnomAD
rs748856106 CA4538509	335	P>R		No	ClinGen ExAC TOPMed gnomAD
rs748856106	335	P>R		No	ExAC TOPMed gnomAD
rs1314699807	335	P>S		No	TOPMed
CA369672073 rs1314699807	335	P>S		No	ClinGen TOPMed
CA168259170 rs770389171	336	A>S		No	ClinGen gnomAD
rs770389171	336	A>S		No	gnomAD
rs748695048	337	Q>R		No	ExAC gnomAD
CA4538511 rs748695048	337	Q>R		No	ClinGen ExAC gnomAD
rs1260319325	338	N>K		No	gnomAD
CA369672095 rs1260319325	338	N>K		No	ClinGen gnomAD
rs1200101043	339	Q>H		No	gnomAD
rs1200101043 CA369672102	339	Q>H		No	ClinGen gnomAD
rs1446895043	339	Q>K		No	gnomAD
rs1446895043 CA369672098	339	Q>K		No	ClinGen gnomAD
CA369672110 rs1397260603	340	N>K		No	ClinGen gnomAD
rs1397260603	340	N>K		No	gnomAD
rs1452903407	341	Q>R		No	gnomAD
CA369672116 rs1452903407	341	Q>R		No	ClinGen gnomAD
rs1586570343	342	V>G		No	Ensembl
CA369672500 rs1586570343	342	V>G		No	ClinGen Ensembl
rs780115151	342	V>L		No	ExAC gnomAD
CA4538557 rs780115151	342	V>L		No	ClinGen ExAC gnomAD
CA4538558 rs780115151	342	V>M		No	ClinGen ExAC gnomAD
rs780115151	342	V>M		No	ExAC gnomAD
rs376325351	343	R>C		No	1000Genomes ESP ExAC TOPMed gnomAD
CA4538559 rs376325351	343	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374169410	343	R>H		No	ESP ExAC TOPMed gnomAD
CA4538560 rs374169410	343	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1429219941	344	S>F		No	gnomAD
CA369672517 rs1429219941	344	S>F		No	ClinGen gnomAD
rs990661211	345	P>L		No	TOPMed
rs990661211 CA168263171	345	P>L		No	ClinGen TOPMed
rs776601025	347	A>D		No	ExAC TOPMed gnomAD
rs776601025 CA4538563	347	A>D		No	ClinGen ExAC TOPMed gnomAD
rs376527378 CA369672538	347	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs376527378	347	A>P		No	ESP ExAC TOPMed gnomAD
CA4538561 rs376527378	347	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs376527378	347	A>S		No	ESP ExAC TOPMed gnomAD
CA4538562 rs376527378	347	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs376527378	347	A>T		No	ESP ExAC TOPMed gnomAD
rs776601025 CA369672542	347	A>V		No	ClinGen ExAC TOPMed gnomAD
rs776601025	347	A>V		No	ExAC TOPMed gnomAD
rs1219225688	350	P>L		No	TOPMed gnomAD
rs1219225688 CA369672561	350	P>L		No	ClinGen TOPMed gnomAD
CA4538564 rs759222604	350	P>S		No	ClinGen ExAC TOPMed gnomAD
rs759222604	350	P>S		No	ExAC TOPMed gnomAD
rs763603272	360	E>*		No	ExAC TOPMed gnomAD
rs763603272 CA4538569	360	E>*		No	ClinGen ExAC TOPMed gnomAD
rs763603272	360	E>K		No	ExAC TOPMed gnomAD
rs763603272 CA168263251	360	E>K		No	ClinGen ExAC TOPMed gnomAD
rs763603272	360	E>Q		No	ExAC TOPMed gnomAD
rs763603272 CA369672681	360	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs977400072	363	T>S		No	TOPMed gnomAD
rs977400072 CA168263277	363	T>S		No	ClinGen TOPMed gnomAD
rs757788763	365	Q>*		No	ExAC gnomAD
CA4538571 rs757788763	365	Q>*		No	ClinGen ExAC gnomAD
CA168263330 rs778907316	368	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs778907316	368	Q>*		No	ExAC TOPMed gnomAD
CA4538574 rs778907316	368	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs778907316	368	Q>E		No	ExAC TOPMed gnomAD
rs778907316	368	Q>K		No	ExAC TOPMed gnomAD
CA4538573 rs778907316	368	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1177910159 CA369672793	370	M>T		No	ClinGen gnomAD
rs1177910159	370	M>T		No	gnomAD
rs1410265789	371	E>D		No	TOPMed gnomAD
rs1410265789 CA369672809	371	E>D		No	ClinGen TOPMed gnomAD
rs1009976575	372	H>Q		No	Ensembl
rs1009976575 CA168263336	372	H>Q		No	ClinGen Ensembl
rs780390389	375	R>K		No	ExAC gnomAD
rs780390389 CA4538575	375	R>K		No	ClinGen ExAC gnomAD
CA168263342 rs938635428	376	Q>E		No	ClinGen TOPMed
rs938635428	376	Q>E		No	TOPMed
CA369672868 rs1045924120	377	N>S		No	ClinGen gnomAD
rs1045924120	377	N>S		No	gnomAD
rs1045924120	377	N>T		No	gnomAD
rs1045924120 CA168263370	377	N>T		No	ClinGen gnomAD
CA4538576 rs749476104	378	V>L		No	ClinGen ExAC gnomAD
rs749476104	378	V>L		No	ExAC gnomAD
rs749476104	378	V>M		No	ExAC gnomAD
CA369672873 rs749476104	378	V>M		No	ClinGen ExAC gnomAD
rs1368420978	379	A>G		No	gnomAD
rs1368420978 CA369672887	379	A>G		No	ClinGen gnomAD
CA4538577 rs150032197	379	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs150032197	379	A>S		No	ESP ExAC TOPMed gnomAD
rs369023429	381	N>D		No	ESP ExAC TOPMed gnomAD
rs369023429 CA4538579	381	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs75145918	381	N>K		No	1000Genomes ESP ExAC TOPMed gnomAD
CA369672908 rs75145918	381	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1034571765 CA168263382	381	N>T		No	ClinGen gnomAD
rs1034571765	381	N>T		No	gnomAD
rs779247184	385	G>S		No	ExAC TOPMed gnomAD
CA4538598 rs779247184	385	G>S		No	ClinGen ExAC TOPMed gnomAD
rs913062234 CA369672981	386	R>*		No	ClinGen TOPMed
rs913062234	386	R>*		No	TOPMed
rs913062234	386	R>G		No	TOPMed
CA168263531 rs913062234	386	R>G		No	ClinGen TOPMed
rs1407844238	386	R>Q		No	TOPMed gnomAD
rs1407844238 CA369672982	386	R>Q		No	ClinGen TOPMed gnomAD
rs1306959872	387	C>Y		No	gnomAD
rs1306959872 CA369672992	387	C>Y		No	ClinGen gnomAD
rs1586570847 CA369673013	389	Q>H		No	ClinGen Ensembl
rs1586570847	389	Q>H		No	Ensembl
rs370303425	390	P>A		No	ExAC TOPMed gnomAD
CA4538599 rs370303425	390	P>A		No	ClinGen ExAC TOPMed gnomAD
rs111867630	390	P>L		No	Ensembl
CA168263538 rs111867630	390	P>L		No	ClinGen Ensembl
rs370303425	390	P>S		No	ExAC TOPMed gnomAD
CA4538600 rs370303425	390	P>S		No	ClinGen ExAC TOPMed gnomAD
rs370303425	390	P>T		No	ExAC TOPMed gnomAD
CA168263537 rs370303425	390	P>T		No	ClinGen ExAC TOPMed gnomAD
CA4538601 rs781348336	393	R>G		No	ClinGen ExAC TOPMed gnomAD
rs781348336	393	R>G		No	ExAC TOPMed gnomAD
rs769718724	393	R>L		No	ExAC TOPMed gnomAD
rs769718724 CA369673028	393	R>L		No	ClinGen ExAC TOPMed gnomAD
rs769718724	393	R>Q		No	ExAC TOPMed gnomAD
CA4538603 rs769718724	393	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs781348336 CA4538602	393	R>W		No	ClinGen ExAC TOPMed gnomAD
rs781348336	393	R>W		No	ExAC TOPMed gnomAD
rs1431257623	394	A>V		No	gnomAD
CA369673032 rs1431257623	394	A>V		No	ClinGen gnomAD
rs775175829 CA4538604	395	Q>L		No	ClinGen ExAC gnomAD
rs775175829	395	Q>L		No	ExAC gnomAD
rs749076750	396	P>S		No	ExAC gnomAD
CA4538605 rs749076750	396	P>S		No	ClinGen ExAC gnomAD
rs773977946	398	V>I		No	ExAC TOPMed gnomAD
rs773977946 CA4538607	398	V>I		No	ClinGen ExAC TOPMed gnomAD
CA4538608 rs762242416	399	R>C		No	ClinGen ExAC TOPMed gnomAD
rs762242416	399	R>C		No	ExAC TOPMed gnomAD
CA4538609 rs576382219	399	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs576382219	399	R>H		No	1000Genomes ExAC TOPMed gnomAD
CA4538610 rs576382219	399	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs576382219	399	R>P		No	1000Genomes ExAC TOPMed gnomAD
rs1240732768	400	A>S		No	TOPMed gnomAD
rs1240732768 CA369673062	400	A>S		No	ClinGen TOPMed gnomAD
CA369673063 rs1240732768	400	A>T		No	ClinGen TOPMed gnomAD
rs1240732768	400	A>T		No	TOPMed gnomAD
rs71528913	401	L>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs71528913 CA4538613	401	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1586571013	403	Q>*		No	Ensembl
rs1586571013 CA369673079	403	Q>*		No	ClinGen Ensembl
rs758330921	405	F>L		No	ExAC gnomAD
rs758330921 CA4538617	405	F>L		No	ClinGen ExAC gnomAD
CA369673108 rs1186726196	406	H>Y		No	ClinGen TOPMed
rs1186726196	406	H>Y		No	TOPMed
rs367718052	408	A>S		No	ESP ExAC TOPMed gnomAD
CA4538619 rs367718052	408	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA369673133 rs367718052	408	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs367718052	408	A>T		No	ESP ExAC TOPMed gnomAD
CA369673135 rs1244741867	408	A>V		No	ClinGen TOPMed
rs1244741867	408	A>V		No	TOPMed
rs756110512 CA4538620	410	F>L		No	ClinGen ExAC TOPMed gnomAD
rs756110512	410	F>L		No	ExAC TOPMed gnomAD
rs756110512	410	F>V		No	ExAC TOPMed gnomAD
rs756110512 CA4538621	410	F>V		No	ClinGen ExAC TOPMed gnomAD
rs768872930	411	T>I		No	ExAC gnomAD
rs768872930 CA4538623	411	T>I		No	ClinGen ExAC gnomAD
CA4538622 rs749414962	411	T>P		No	ClinGen ExAC gnomAD
rs749414962	411	T>P		No	ExAC gnomAD
CA369673210 rs1373427718	415	C>S		No	ClinGen gnomAD
rs1373427718	415	C>S		No	gnomAD
rs748499610	416	A>V		No	ExAC TOPMed gnomAD
rs748499610 CA4538625	416	A>V		No	ClinGen ExAC TOPMed gnomAD
rs146818692	420	Q>K		No	ESP ExAC TOPMed gnomAD
rs146818692 CA4538628	420	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs964494631 CA168263722	424	F>L		No	ClinGen Ensembl
rs964494631	424	F>L		No	Ensembl
rs1156660202	425	Y>*		No	gnomAD
rs1156660202 CA578627085	425	Y>*		No	ClinGen gnomAD
rs1464744146 CA369673324	425	Y>F		No	ClinGen gnomAD
rs1464744146	425	Y>F		No	gnomAD
rs1282717100 CA369673318	425	Y>N		No	ClinGen gnomAD
rs1282717100	425	Y>N		No	gnomAD
CA369673357 rs1194628020	428	E>D		No	ClinGen gnomAD
rs1194628020	428	E>D		No	gnomAD
rs770296649 CA4538629	430	A>T		No	ClinGen ExAC gnomAD
rs770296649	430	A>T		No	ExAC gnomAD
rs1586571142 CA369673374	430	A>V		No	ClinGen Ensembl
rs1586571142	430	A>V		No	Ensembl
rs201007727	431	P>L		No	1000Genomes ExAC TOPMed gnomAD
CA4538631 rs201007727	431	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201007727	431	P>R		No	1000Genomes ExAC TOPMed gnomAD
CA168263791 rs201007727	431	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1586571172	433	C>F		No	Ensembl
rs1586571172 CA369673407	433	C>F		No	ClinGen Ensembl
rs1453770764	433	C>R		No	gnomAD
CA369673401 rs1453770764	433	C>R		No	ClinGen gnomAD
rs762814445	434	E>K		No	ExAC gnomAD
rs762814445 CA4538634	434	E>K		No	ClinGen ExAC gnomAD
rs762814445	434	E>Q		No	ExAC gnomAD
CA4538635 rs762814445	434	E>Q		No	ClinGen ExAC gnomAD
rs751407162	435	G>V		No	ExAC gnomAD
CA4538636 rs751407162	435	G>V		No	ClinGen ExAC gnomAD
CA4538637 rs757235429	438	T>A		No	ClinGen ExAC TOPMed
rs757235429	438	T>A		No	ExAC TOPMed
rs963368750	439	D>V		No	TOPMed
CA168264011 rs963368750	439	D>V		No	ClinGen TOPMed
CA369673519 rs1264544297	440	T>I		No	ClinGen gnomAD
rs1264544297	440	T>I		No	gnomAD
rs1178793708 CA369673511	440	T>P		No	ClinGen TOPMed
rs1178793708	440	T>P		No	TOPMed
rs752866447 CA4538664	441	L>V		No	ClinGen ExAC gnomAD
rs752866447	441	L>V		No	ExAC gnomAD
rs758657866	442	E>*		No	ExAC gnomAD
CA4538665 rs758657866	442	E>*		No	ClinGen ExAC gnomAD
rs777931036	443	K>N		No	ExAC gnomAD
rs777931036 CA4538666	443	K>N		No	ClinGen ExAC gnomAD
rs1421883916 CA369673564	445	N>D		No	ClinGen gnomAD
rs1421883916	445	N>D		No	gnomAD
rs1251145832 CA369673579	446	T>I		No	ClinGen gnomAD
rs1251145832	446	T>I		No	gnomAD
rs1586571486	447	C>Y		No	Ensembl
rs1586571486 CA369673586	447	C>Y		No	ClinGen Ensembl
rs376217001 CA4538670	448	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs376217001	448	G>R		No	ESP ExAC TOPMed gnomAD
CA4538671 rs778518202	449	E>D		No	ClinGen ExAC TOPMed gnomAD
rs778518202	449	E>D		No	ExAC TOPMed gnomAD
rs1179607727 CA369673602	449	E>K		No	ClinGen TOPMed gnomAD
rs1179607727	449	E>K		No	TOPMed gnomAD
rs1370038200	450	P>A		No	gnomAD
rs1370038200 CA369673616	450	P>A		No	ClinGen gnomAD
rs1415433405	452	T>A		No	gnomAD
rs1415433405 CA369673639	452	T>A		No	ClinGen gnomAD
rs775156061	453	D>G		No	ExAC gnomAD
rs775156061 CA4538673	453	D>G		No	ClinGen ExAC gnomAD
CA168264087 rs544381844	454	R>C		No	ClinGen ExAC TOPMed gnomAD
rs544381844	454	R>C		No	ExAC TOPMed gnomAD
rs544381844	454	R>G		No	ExAC TOPMed gnomAD
CA4538674 rs544381844	454	R>G		No	ClinGen ExAC TOPMed gnomAD
rs768352370	454	R>H		No	ExAC gnomAD
rs768352370 CA4538675	454	R>H		No	ClinGen ExAC gnomAD
rs761647537	455	M>I		No	ExAC gnomAD
CA4538677 rs761647537	455	M>I		No	ClinGen ExAC gnomAD
rs773934127	455	M>T		No	ExAC TOPMed gnomAD
CA4538676 rs773934127	455	M>T		No	ClinGen ExAC TOPMed gnomAD
CA168264093 rs929104308	455	M>V		No	ClinGen TOPMed gnomAD
rs929104308	455	M>V		No	TOPMed gnomAD
rs1225777606	458	A>T		No	TOPMed
CA369673692 rs1225777606	458	A>T		No	ClinGen TOPMed
rs571369385	459	T>M		No	1000Genomes ExAC TOPMed gnomAD
CA4538678 rs571369385	459	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1210947599	462	A>P		No	TOPMed gnomAD
CA369673718 rs1210947599	462	A>P		No	ClinGen TOPMed gnomAD
rs1210947599	462	A>T		No	TOPMed gnomAD
CA369673717 rs1210947599	462	A>T		No	ClinGen TOPMed gnomAD
rs1259577103	463	Y>C		No	TOPMed gnomAD
rs1259577103 CA369673728	463	Y>C		No	ClinGen TOPMed gnomAD
rs752776674 CA4538682	465	P>L		No	ClinGen ExAC TOPMed gnomAD
rs752776674	465	P>L		No	ExAC TOPMed gnomAD
rs752776674	465	P>Q		No	ExAC TOPMed gnomAD
rs752776674 CA369673742	465	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs146749977	469	T>N		No	ESP TOPMed gnomAD
CA168264173 rs146749977	469	T>N		No	ClinGen ESP TOPMed gnomAD
rs751775395	470	C>Y		No	ExAC gnomAD
rs751775395 CA4538685	470	C>Y		No	ClinGen ExAC gnomAD
rs146983863 CA4538687	473	C>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146983863	473	C>*		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM1086767 CA168264183 rs781295880	474	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs781295880	474	A>T		No	TOPMed gnomAD
CA369673830 rs1563111007	474	A>V		No	ClinGen Ensembl
rs1563111007	474	A>V		No	Ensembl
rs41277425	475	R>C		No	1000Genomes ESP ExAC TOPMed gnomAD
CA4538688 rs41277425	475	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769975439	475	R>H		No	ExAC TOPMed gnomAD
rs769975439 CA4538689	475	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1364561406	476	P>L		No	gnomAD
CA369673847 rs1364561406	476	P>L		No	ClinGen gnomAD
CA369673885 rs1295005633	480	T>I		No	ClinGen TOPMed gnomAD
rs1295005633	480	T>I		No	TOPMed gnomAD
rs1295005633	480	T>S		No	TOPMed gnomAD
CA369673883 rs1295005633	480	T>S		No	ClinGen TOPMed gnomAD
rs1035787606 CA168264201	481	S>A		No	ClinGen TOPMed
rs1035787606	481	S>A		No	TOPMed
rs1301423861 CA369673916	483	I>T		No	ClinGen Ensembl
rs1301423861	483	I>T		No	Ensembl
rs373548465	483	I>V		No	ESP ExAC TOPMed gnomAD
rs373548465 CA4538692	483	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs201858569 CA4538695	484	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201858569	484	V>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1013417864 CA168264228	485	D>H		No	ClinGen TOPMed
rs1013417864	485	D>H		No	TOPMed
CA4538696 rs370901134	487	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs370901134	487	A>T		No	ESP ExAC TOPMed gnomAD
rs773002609 CA4538697	488	N>S		No	ClinGen ExAC gnomAD
rs773002609	488	N>S		No	ExAC gnomAD
COSM1086768 rs766296316 CA4538699	489	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs766296316	489	R>Q		No	ExAC TOPMed gnomAD
rs73154206 CA4538698	489	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs73154206	489	R>W		No	1000Genomes ESP ExAC TOPMed gnomAD
CA4538700 rs776605369	490	P>T		No	ClinGen ExAC gnomAD
rs776605369	490	P>T		No	ExAC gnomAD
rs763062192	491	H>L		No	ExAC
CA4538701 rs763062192	491	H>L		No	ClinGen ExAC
rs764116098	493	V>D		No	ExAC gnomAD
CA4538702 rs764116098	493	V>D		No	ClinGen ExAC gnomAD
rs751760654	494	P>L		No	ExAC gnomAD
rs751760654 CA4538703	494	P>L		No	ClinGen ExAC gnomAD
rs767929006 CA4538705	495	D>N		No	ClinGen ExAC gnomAD
rs767929006	495	D>N		No	ExAC gnomAD
CA4538707 rs756606119	496	Y>C		No	ClinGen ExAC gnomAD
rs756606119	496	Y>C		No	ExAC gnomAD
rs1470744454	497	H>L		No	TOPMed
CA369674057 rs1470744454	497	H>L		No	ClinGen TOPMed
rs185420086	498	K>Q		No	1000Genomes ExAC gnomAD
CA4538708 rs185420086	498	K>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1026896518	500	Y>C		No	Ensembl
rs1026896518 CA168265055	500	Y>C		No	ClinGen Ensembl
rs1305428675	500	Y>H		No	gnomAD
rs1305428675 CA369674274	500	Y>H		No	ClinGen gnomAD
rs1229793669	501	A>T		No	TOPMed gnomAD
CA369674279 rs1229793669	501	A>T		No	ClinGen TOPMed gnomAD
CA4538730 rs757958264	502	P>L		No	ClinGen ExAC gnomAD
rs757958264	502	P>L		No	ExAC gnomAD
CA369674299 rs1586572949	504	C>G		No	ClinGen Ensembl
rs1586572949	504	C>G		No	Ensembl
rs569088357	506	V>I		No	1000Genomes ExAC TOPMed gnomAD
COSM1568567 CA4538732 rs569088357	506	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1482077647 CA369674319	507	C>Y		No	ClinGen gnomAD
rs1482077647	507	C>Y		No	gnomAD
rs770668513 CA4538733	508	S>F		No	ClinGen ExAC gnomAD
rs770668513	508	S>F		No	ExAC gnomAD
rs769616710	509	E>D		No	ExAC gnomAD
rs769616710 CA4538736	509	E>D		No	ClinGen ExAC gnomAD
rs745756020	509	E>G		No	ExAC gnomAD
rs745756020 CA4538735	509	E>G		No	ClinGen ExAC gnomAD
rs780866326	509	E>K		No	ExAC gnomAD
CA4538734 rs780866326	509	E>K		No	ClinGen ExAC gnomAD
rs147362171	511	I>M		No	ESP ExAC gnomAD
CA4538737 rs147362171	511	I>M		No	ClinGen ESP ExAC gnomAD
rs760032618 CA168265093	512	M>L		No	ClinGen TOPMed gnomAD
rs760032618	512	M>L		No	TOPMed gnomAD
rs760032618	512	M>V		No	TOPMed gnomAD
CA168265090 rs760032618	512	M>V		No	ClinGen TOPMed gnomAD
rs761963512	514	E>D		No	ExAC gnomAD
CA4538738 rs761963512	514	E>D		No	ClinGen ExAC gnomAD
CA4538739 rs772321192	515	P>L		No	ClinGen ExAC gnomAD
rs772321192	515	P>L		No	ExAC gnomAD
rs1586573017	516	G>V		No	Ensembl
CA369674375 rs1586573017	516	G>V		No	ClinGen Ensembl
rs773528813	517	R>L		No	ExAC TOPMed gnomAD
rs773528813 CA4538740	517	R>L		No	ClinGen ExAC TOPMed gnomAD
CA168265101 rs773528813	517	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs773528813	517	R>Q		No	ExAC TOPMed gnomAD
CA4538741 rs139473664	521	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs139473664	521	V>L		No	ESP ExAC TOPMed gnomAD
rs139473664	521	V>M		No	ESP ExAC TOPMed gnomAD
CA369674402 rs139473664	521	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs750192633 CA4538742	522	R>*		No	ClinGen ExAC TOPMed gnomAD
rs750192633	522	R>*		No	ExAC TOPMed gnomAD
rs750192633	522	R>G		No	ExAC TOPMed gnomAD
rs750192633 CA168265134	522	R>G		No	ClinGen ExAC TOPMed gnomAD
rs200704529	522	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs200704529 CA4538743	522	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1215385011	525	A>D		No	gnomAD
rs1215385011 CA369674425	525	A>D		No	ClinGen gnomAD
rs1355305812 CA369674421 COSM1086769	525	A>T	endometrium haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1355305812	525	A>T		No	gnomAD
rs1399852670	527	D>G		No	TOPMed
CA369674436 rs1399852670	527	D>G		No	ClinGen TOPMed
rs765646865 CA4538745	528	K>N		No	ClinGen ExAC gnomAD
rs765646865	528	K>N		No	ExAC gnomAD
CA369674471 rs1340164696	532	M>V		No	ClinGen gnomAD
rs1340164696	532	M>V		No	gnomAD
CA369674485 rs1408466450	533	K>M		No	ClinGen TOPMed
rs1408466450	533	K>M		No	TOPMed
CA369674489 rs1281722191	534	C>G		No	ClinGen gnomAD
rs1281722191	534	C>G		No	gnomAD
rs1444634829	535	Y>*		No	gnomAD
rs1444634829 COSM3715617 CA369674503	535	Y>*	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
CA369674504 rs1185944501	536	K>Q		No	ClinGen TOPMed gnomAD
rs1185944501	536	K>Q		No	TOPMed gnomAD
rs1332927142 CA369674558	541	G>E		No	ClinGen gnomAD
rs1332927142	541	G>E		No	gnomAD
rs756852682	541	G>R		No	ExAC gnomAD
rs756852682 CA4538769 COSM1086771	541	G>R	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs756852682	541	G>R		No	ExAC gnomAD
rs756852682 COSM1086771 CA369674556	541	G>R	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1332927142	541	G>V		No	gnomAD
rs1332927142 CA369674560	541	G>V		No	ClinGen gnomAD
rs1274814671	542	K>N		No	gnomAD
CA369674568 rs1274814671	542	K>N		No	ClinGen gnomAD
rs1352020063	543	P>S		No	gnomAD
CA369674571 rs1352020063	543	P>S		No	ClinGen gnomAD
rs532988572 CA168265587	545	S>L		No	ClinGen TOPMed gnomAD
rs532988572	545	S>L		No	TOPMed gnomAD
CA369674589 rs1464674651	546	I>T		No	ClinGen gnomAD
rs1464674651	546	I>T		No	gnomAD
rs1202666796	548	A>V		No	TOPMed
CA369674605 rs1202666796	548	A>V		No	ClinGen TOPMed
rs750132086	549	D>N		No	ExAC gnomAD
CA4538771 rs750132086	549	D>N		No	ClinGen ExAC gnomAD
rs201626652	553	C>W		No	ExAC gnomAD
rs201626652 CA4538772	553	C>W		No	ClinGen ExAC gnomAD
rs779921471	554	F>L		No	ExAC TOPMed gnomAD
rs916638486	554	F>L		No	TOPMed gnomAD
rs779921471 CA4538773	554	F>L		No	ClinGen ExAC TOPMed gnomAD
CA168265618 rs916638486	554	F>L		No	ClinGen TOPMed gnomAD
CA369674644 rs1196092871	554	F>Y		No	ClinGen gnomAD
rs1196092871	554	F>Y		No	gnomAD
CA369674654 rs1472872492	556	L>M		No	ClinGen gnomAD
rs1472872492	556	L>M		No	gnomAD
rs952111937 CA168265654	557	D>N		No	ClinGen TOPMed gnomAD
rs952111937	557	D>N		No	TOPMed gnomAD
rs952111937	557	D>Y		No	TOPMed gnomAD
rs952111937 CA369674660	557	D>Y		No	ClinGen TOPMed gnomAD
rs1456475513	558	G>S		No	gnomAD
CA369674666 rs1456475513	558	G>S		No	ClinGen gnomAD
rs1586574011	559	H>P		No	Ensembl
CA369674675 rs1586574011	559	H>P		No	ClinGen Ensembl
rs779060717	559	H>Q		No	ExAC TOPMed gnomAD
rs779060717 CA4538776	559	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs747069930 CA369674680	560	V>L		No	ClinGen ExAC TOPMed gnomAD
rs747069930 CA369674679	560	V>L		No	ClinGen ExAC TOPMed gnomAD
rs747069930	560	V>L		No	ExAC TOPMed gnomAD
rs747069930	560	V>L		No	ExAC TOPMed gnomAD
rs747069930	560	V>M		No	ExAC TOPMed gnomAD
CA4538777 rs747069930	560	V>M		No	ClinGen ExAC TOPMed gnomAD
CA369674694 rs1385225379	562	C>S		No	ClinGen TOPMed gnomAD
rs1385225379	562	C>S		No	TOPMed gnomAD
rs1385225379	562	C>Y		No	TOPMed gnomAD
CA369674693 rs1385225379	562	C>Y		No	ClinGen TOPMed gnomAD
rs149835123	563	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs149835123 CA369674699	563	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149835123 CA4538779	563	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149835123	563	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs771090391 CA4538778	563	R>W		No	ClinGen ExAC gnomAD
rs771090391	563	R>W		No	ExAC gnomAD
rs1460543164	568	A>G		No	TOPMed
rs1460543164 CA369674735	568	A>G		No	ClinGen TOPMed
rs1328929285	568	A>S		No	gnomAD
rs1328929285 CA369674733	568	A>S		No	ClinGen gnomAD
CA369674737 rs1234259878	569	R>G		No	ClinGen gnomAD
rs1234259878	569	R>G		No	gnomAD
CA4538780 rs746130248	570	A>T		No	ClinGen ExAC gnomAD
rs746130248	570	A>T		No	ExAC gnomAD
CA369674760 rs1207617275	572	T>N		No	ClinGen gnomAD
rs1207617275	572	T>N		No	gnomAD

No associated diseases with Q15942

3 regional properties for Q15942

Type	Name	Position	InterPro Accession
domain	Zinc finger, LIM-type	382 - 441	IPR001781-1
domain	Zinc finger, LIM-type	442 - 502	IPR001781-2
domain	Zinc finger, LIM-type	503 - 572	IPR001781-3

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cytoplasm, cytoskeleton Nucleus Cell junction, focal adhesion	Associates with the actin cytoskeleton near the adhesion plaques Enters the nucleus in the presence of HESX1
PANTHER Family	PTHR24212	ZYXIN/TRIP6
PANTHER Subfamily	PTHR24212:SF1	ZYXIN
PANTHER Protein Class	cytoskeletal protein actin or actin-binding cytoskeletal protein
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
actin cytoskeleton	The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
adherens junction	A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules.
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.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
phagocytic vesicle	A membrane-bounded intracellular vesicle that arises from the ingestion of particulate material by phagocytosis.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
stress fiber	A contractile actin filament bundle that consists of short actin filaments with alternating polarity, cross-linked by alpha-actinin and possibly other actin bundling proteins, and with myosin present in a periodic distribution along the fiber.

2 GO annotations of molecular function

Name	Definition
metal ion binding	Binding to a metal ion.
RNA binding	Binding to an RNA molecule or a portion thereof.

8 GO annotations of biological process

Name	Definition
cell-cell signaling	Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions.
cell-matrix adhesion	The binding of a cell to the extracellular matrix via adhesion molecules.
cellular response to interferon-gamma	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 an interferon-gamma stimulus. Interferon gamma is the only member of the type II interferon found so far.
integrin-mediated signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to an integrin on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
regulation of inflammatory response	Any process that modulates the frequency, rate or extent of the inflammatory response, the immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents.
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.
stress fiber assembly	The aggregation, arrangement and bonding together of a set of components to form a stress fiber. A stress fiber is a contractile actin filament bundle that consists of short actin filaments with alternating polarity.
transforming growth factor beta receptor signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to a transforming growth factor beta receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q04584	ZYX	Zyxin	Gallus gallus (Chicken)	EV
Q8BFW7	Lpp	Lipoma-preferred partner homolog	Mus musculus (Mouse)	PR
Q62523	Zyx	Zyxin	Mus musculus (Mouse)	SS
Q5XI07	Lpp	Lipoma-preferred partner homolog	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MAAPRPSPAI	SVSVSAPAFY	APQKKFGPVV	APKPKVNPFR	PGDSEPPPAP	GAQRAQMGRV
70	80	90	100	110	120
GEIPPPPPED	FPLPPPPLAG	DGDDAEGALG	GAFPPPPPPI	EESFPPAPLE	EEIFPSPPPP
130	140	150	160	170	180
PEEEGGPEAP	IPPPPQPREK	VSSIDLEIDS	LSSLLDDMTK	NDPFKARVSS	GYVPPPVATP
190	200	210	220	230	240
FSSKSSTKPA	AGGTAPLPPW	KSPSSSQPLP	QVPAPAQSQT	QFHVQPQPQP	KPQVQLHVQS
250	260	270	280	290	300
QTQPVSLANT	QPRGPPASSP	APAPKFSPVT	PKFTPVASKF	SPGAPGGSGS	QPNQKLGHPE
310	320	330	340	350	360
ALSAGTGSPQ	PPSFTYAQQR	EKPRVQEKQH	PVPPPAQNQN	QVRSPGAPGP	LTLKEVEELE
370	380	390	400	410	420
QLTQQLMQDM	EHPQRQNVAV	NELCGRCHQP	LARAQPAVRA	LGQLFHIACF	TCHQCAQQLQ
430	440	450	460	470	480
GQQFYSLEGA	PYCEGCYTDT	LEKCNTCGEP	ITDRMLRATG	KAYHPHCFTC	VVCARPLEGT
490	500	510	520	530	540
SFIVDQANRP	HCVPDYHKQY	APRCSVCSEP	IMPEPGRDET	VRVVALDKNF	HMKCYKCEDC
550	560	570
GKPLSIEADD	NGCFPLDGHV	LCRKCHTARA	QT