AiPD: Autoinhibited Protein Database

Q8TCU6

Gene name	PREX1 (KIAA1415)
Protein name	Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein
Names	P-Rex1, PtdIns(3,4,5)-dependent Rac exchanger 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:57580
EC number
Protein Class	DEP DOMAIN PROTEIN (PTHR22829)

Descriptions

Phosphatidylinositol (3,4,5)-trisphosphate (PIP3)-dependent Rac exchanger 1 (P-Rex1) catalyzes the exchange of GDP for GTP on Rac GTPases, thereby triggering changes in the actin cytoskeleton and in transcription. P-Rex1 contains a DH domain, a PH domain, two DEP domains, and two PDZ domains. The DEP1 domain alone can autoinhibit the activity of P-Rex1 by interacting with the DH/PH domains.

Autoinhibitory domains (AIDs)

Target domain	38-408 (DH/PH domains)
Relief mechanism	Ligand binding, Partner binding
Assay	Deletion assay, Structural analysis

AID

409-499 (DEP1 domain)

Target domain

38-408 (DH/PH domains)

Relief mechanism

Ligand binding (PIP3 binding to PH domain), Partner binding (Gβγ binding)

Assay

Deletion assay, Structural analysis

Accessory elements

No accessory elements

References

Ravala SK et al. (2020) "The first DEP domain of the RhoGEF P-Rex1 autoinhibits activity and contributes to membrane binding", The Journal of biological chemistry, 295, 12635-12647

Chang YG et al. (2022) "Structure of the metastatic factor P-Rex1 reveals a two-layered autoinhibitory mechanism", Nature structural & molecular biology, 29, 767-773

Autoinhibited structure

Activated structure

13 structures for Q8TCU6

Entry ID	Method	Resolution	Chain	Position	Source
3QIK	X-ray	228 A	A	607-706	PDB
4YON	X-ray	195 A	A	1-404	PDB
5D27	X-ray	192 A	A	245-408	PDB
5D3V	X-ray	185 A	A/B	245-408	PDB
5D3W	X-ray	185 A	A/B	245-408	PDB
5D3X	X-ray	169 A	A/B	245-408	PDB
5D3Y	X-ray	195 A	A/B	245-408	PDB
5FI0	X-ray	328 A	A/C/E/G	38-408	PDB
5FI1	X-ray	320 A	A	38-408	PDB
6PCV	EM	320 A	A	38-1659	PDB
6VSK	X-ray	312 A	A	409-499	PDB
7RX9	X-ray	322 A			PDB
AF-Q8TCU6-F1	Predicted				AlphaFoldDB

1050 variants for Q8TCU6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1269490394 CA409365082	2	E>D		No	ClinGen gnomAD
CA409365077 rs1208888781	3	A>E		No	ClinGen gnomAD
CA409365073 rs1177232352	4	P>A		No	ClinGen TOPMed
CA409365066 rs1250262084	5	S>C		No	ClinGen TOPMed
rs1272836918 CA409365062	5	S>R		No	ClinGen TOPMed gnomAD
rs1011039833 CA316010243	6	G>R		No	ClinGen TOPMed gnomAD
rs1331506053 CA409365051	7	S>N		No	ClinGen gnomAD
CA409365045 rs1294710161	8	E>*		No	ClinGen TOPMed gnomAD
rs1294710161 CA409365047	8	E>K		No	ClinGen TOPMed gnomAD
CA409365044 rs1432828108	8	E>V		No	ClinGen TOPMed gnomAD
CA409365039 rs1386461112	9	P>T		No	ClinGen TOPMed gnomAD
CA409365022 rs1396347051	11	G>V		No	ClinGen TOPMed
rs1359283707 CA409365013	13	G>R		No	ClinGen TOPMed gnomAD
rs1359283707 CA409365012	13	G>R		No	ClinGen TOPMed gnomAD
CA409365011 rs1359283707	13	G>W		No	ClinGen TOPMed gnomAD
rs1232205182 CA409365006	14	A>T		No	ClinGen TOPMed
rs1319304610 CA409364987	17	C>S		No	ClinGen TOPMed
rs1197315924 CA409364979	17	C>W		No	ClinGen TOPMed
CA409364953 rs1467864337	21	D>G		No	ClinGen TOPMed gnomAD
CA409364943 rs1194566612	22	P>L		No	ClinGen TOPMed
rs1194566612 CA409364944	22	P>R		No	ClinGen TOPMed
rs1031083466 CA316010238	23	R>Q		No	ClinGen TOPMed gnomAD
rs1425882345 CA409364941	23	R>W		No	ClinGen TOPMed
rs1466395860 CA409364917	27	A>V		No	ClinGen TOPMed
rs1373309544 CA409364909	28	A>V		No	ClinGen TOPMed
CA409364898 rs1413793025	30	P>R		No	ClinGen TOPMed
CA9898016 rs757522010	35	G>R		No	ClinGen ExAC gnomAD
CA409364860 rs1212254165	36	P>R		No	ClinGen TOPMed
CA409364857 rs1388059441	37	C>R		No	ClinGen gnomAD
CA316010233 rs559595542	38	A>V		No	ClinGen 1000Genomes
rs1485512418 CA409364837	40	A>S		No	ClinGen TOPMed
CA9898015 rs754225021	40	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1600539844 CA409364832	41	R>P		No	ClinGen Ensembl
rs1040541746 CA316010228	41	R>W		No	ClinGen TOPMed gnomAD
CA409364824 rs1185513414	42	E>D		No	ClinGen gnomAD
rs1009037260 CA316010225	42	E>G		No	ClinGen TOPMed
rs1441857866 CA409364818	43	S>F		No	ClinGen gnomAD
CA409364812 rs1185973339	44	E>A		No	ClinGen TOPMed
CA9898013 rs377479302	45	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA316010223 rs6095318	47	L>M		No	ClinGen Ensembl
rs1413151504 CA409364789	48	R>H		No	ClinGen Ensembl
rs1340530802 CA409364762	52	C>*		No	ClinGen gnomAD
CA316010220 rs889253485	54	L>F		No	ClinGen TOPMed
rs774966160 CA9898012	55	N>K		No	ClinGen ExAC gnomAD
CA316010218 rs1050539615	55	N>S		No	ClinGen TOPMed gnomAD
rs866892357 CA316010215	56	E>*		No	ClinGen Ensembl
CA316010212 rs920644762	65	V>L		No	ClinGen TOPMed
rs1362025620 CA409364671	66	G>D		No	ClinGen TOPMed
CA409364674 rs1568656838	66	G>S		No	ClinGen Ensembl
rs774112025 CA9898009	67	T>N		No	ClinGen ExAC gnomAD
CA316010208 rs868293346	69	R>C		No	ClinGen Ensembl
rs770918795 CA9898008	69	R>L		No	ClinGen ExAC gnomAD
rs1431233671 CA409364635	72	Q>*		No	ClinGen gnomAD
COSM189717 CA409319772 rs1471611026	74	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1191938691 CA409319694	77	H>R		No	ClinGen TOPMed gnomAD
CA409319675 rs1489687858	78	R>C		No	ClinGen TOPMed gnomAD
rs371419352 CA9897990 COSM297900	78	R>H	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1221557459 CA409319649	80	R>Q		No	ClinGen gnomAD
rs773131670 CA9897988	83	V>M		No	ClinGen ExAC TOPMed gnomAD
CA409319542 rs1305893746 COSM724301	85	D>N	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs761709837 CA9897986	86	S>L		No	ClinGen ExAC gnomAD
CA409319401 rs1471265021	91	L>F		No	ClinGen Ensembl
rs1348013932 CA409319355	92	T>S		No	ClinGen TOPMed
rs1389288880 CA409319281	94	E>D		No	ClinGen gnomAD
rs1568847849 CA409317671	101	S>L		No	ClinGen Ensembl
CA9897949 rs371982313	103	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1027654 rs753573213 CA9897947	104	E>K	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs927380298 CA315882407	105	D>N		No	ClinGen TOPMed
rs145026241 CA9897941	116	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145026241 CA9897942	116	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1271433240 CA409317386	116	A>V		No	ClinGen TOPMed
CA409317339 rs1253445876	119	Y>C		No	ClinGen gnomAD
CA9897938 rs371824462	122	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA409317256 rs1253073209	123	P>A		No	ClinGen TOPMed
CA409317244 rs1436618937	123	P>L		No	ClinGen TOPMed
CA315882343 rs907979282	133	N>S		No	ClinGen TOPMed
CA409316933 rs1416655798	138	F>S		No	ClinGen TOPMed
CA409313177 rs1469298478	139	K>R		No	ClinGen gnomAD
rs973126805 CA315876215	141	K>E		No	ClinGen Ensembl
CA9897917 rs771847148	143	C>Y		No	ClinGen ExAC gnomAD
rs770434005 CA9897914	146	E>K		No	ClinGen ExAC TOPMed gnomAD
rs368565739 CA315876179	151	N>K		No	ClinGen ESP TOPMed
rs748769922 CA9897913	152	H>L		No	ClinGen ExAC TOPMed gnomAD
CA9897912 rs777743255	152	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs748769922 CA409312848	152	H>R		No	ClinGen ExAC TOPMed gnomAD
CA9897908 rs754779123	166	P>S		No	ClinGen ExAC gnomAD
CA409312594 rs1175268392	168	V>M		No	ClinGen TOPMed
CA9897907 rs201508145	169	R>H		No	ClinGen ExAC TOPMed gnomAD
CA409312572 rs1399542806	170	A>T		No	ClinGen gnomAD
rs370938889 COSM116448 CA409312525	173	L>F	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1308943019 CA409309990	174	S>N		No	ClinGen TOPMed
rs764138841 CA9897885	176	M>L		No	ClinGen ExAC gnomAD
CA409309908 rs1294578949	180	G>A		No	ClinGen gnomAD
rs923310799 CA409309911	180	G>C		No	ClinGen gnomAD
rs923310799 CA315870993	180	G>S		No	ClinGen gnomAD
rs147935111 CA9897884	181	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs148948169 CA315870983 COSM1412295	181	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP gnomAD
rs1308210812 CA409309826	184	T>M		No	ClinGen TOPMed gnomAD
CA409309807 rs1568841010	185	D>A		No	ClinGen Ensembl
CA409309769 rs1328157531	187	P>H		No	ClinGen TOPMed gnomAD
rs1328157531 CA409309765	187	P>L		No	ClinGen TOPMed gnomAD
rs762567818 CA9897878	195	P>L		No	ClinGen ExAC gnomAD
CA315870905 COSM1533578 rs943188055	203	P>L	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1211307382 CA409309156	206	L>H		No	ClinGen gnomAD
CA409312054 rs1188089629	210	A>T		No	ClinGen TOPMed
CA409312041 rs1283052595	210	A>V		No	ClinGen gnomAD
CA9897859 rs772697635	211	K>R		No	ClinGen ExAC TOPMed gnomAD
CA9897856 rs776160255 COSM269945	215	G>S	lung large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1451636655 CA409311743	221	P>A		No	ClinGen gnomAD
CA315899109 rs920268436	222	A>T		No	ClinGen TOPMed
CA9897853 COSM1326689 rs375685234	222	A>V	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA9897852 rs771700877	224	Q>K		No	ClinGen ExAC gnomAD
CA409311636 rs1333801762	226	A>D		No	ClinGen TOPMed
rs755076938 CA315899028	231	K>E		No	ClinGen Ensembl
CA9897850 rs777832680	231	K>N		No	ClinGen ExAC gnomAD
CA9897849 rs756442296	232	T>A		No	ClinGen ExAC TOPMed gnomAD
COSM1027645 rs1187781217 CA409311537	233	V>I	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA409311514 COSM1412293 rs1476985948	234	C>Y	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA409311485 rs1484581061	235	S>C		No	ClinGen gnomAD
rs1341800633 CA409311479	236	N>H		No	ClinGen TOPMed
CA409311365 rs766939349	242	R>W		No	ClinGen ExAC gnomAD
rs916960776 CA315898953	249	A>G		No	ClinGen TOPMed
CA315898947 rs916960776	249	A>V		No	ClinGen TOPMed
rs1342790603 CA409311153	251	E>K		No	ClinGen gnomAD
CA9897843 rs758643755	253	L>V		No	ClinGen ExAC gnomAD
CA9897842 rs750850219	254	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA409311079 rs1222249899	254	Q>R		No	ClinGen TOPMed gnomAD
rs764840140 CA9897841	256	H>P		No	ClinGen ExAC gnomAD
rs761520568 CA9897840	256	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA9897838 rs751623625	257	I>M		No	ClinGen ExAC gnomAD
CA409309605 COSM1221939 rs1332718176	264	N>S	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs960129149 CA315893195	267	D>E		No	ClinGen TOPMed gnomAD
rs559009085 CA9897808	271	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA409309137 rs1328455895	277	T>P		No	ClinGen gnomAD
rs746332373 COSM284232 CA9897805	283	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA409308718 rs1453992436	290	A>T		No	ClinGen gnomAD
rs1318709309 CA409308665	292	F>S		No	ClinGen TOPMed
rs1179417325 CA409308652	293	L>F		No	ClinGen gnomAD
rs1186812479 CA409308629	294	F>C		No	ClinGen gnomAD
rs141066278 CA409308627	294	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9897800 rs755858677	295	D>N		No	ClinGen ExAC TOPMed gnomAD
CA409308603 rs1195395219	296	N>K		No	ClinGen gnomAD
CA409308573 rs1601085072	299	V>I		No	ClinGen Ensembl
rs368184718 CA9897794	303	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9897795 rs766440280	303	R>W		No	ClinGen ExAC gnomAD
CA9897793 rs773182996	304	K>R		No	ClinGen ExAC gnomAD
rs764220280 CA9897792	305	S>C		No	ClinGen ExAC gnomAD
rs1381287476 CA409307783	306	R>S		No	ClinGen gnomAD
rs1187470826 CA409308514	306	R>T		No	ClinGen TOPMed
rs1375905342 CA409307778	307	V>F		No	ClinGen gnomAD
rs1375905342 CA409307781	307	V>I		No	ClinGen gnomAD
rs749732844 CA9897768	309	G>R		No	ClinGen ExAC gnomAD
rs866830145 CA315887467	310	S>I		No	ClinGen Ensembl
CA9897767 rs368421137	312	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs770154340 CA9897766	315	K>R		No	ClinGen ExAC gnomAD
rs957560196 CA315887462	316	R>K		No	ClinGen TOPMed
rs1371383097 CA409307450	318	K>T		No	ClinGen gnomAD
rs754716819 CA9897763	321	N>S		No	ClinGen ExAC gnomAD
rs202212653 CA9897761	322	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9897759 rs750309804	329	G>S		No	ClinGen ExAC gnomAD
CA9897758 rs778751087	345	T>I		No	ClinGen ExAC TOPMed gnomAD
rs754857830 CA9897735	346	A>V		No	ClinGen ExAC TOPMed gnomAD
CA315886044 rs992023974	349	H>Y		No	ClinGen Ensembl
CA9897733 rs150050685	352	G>S		No	ClinGen ESP ExAC
CA409306888 rs1468877085	354	T>N		No	ClinGen gnomAD
rs1274492440 CA409306846	360	K>E		No	ClinGen gnomAD
CA409306800 rs1211509144	363	N>S		No	ClinGen gnomAD
CA409306788 rs1320758070	364	T>M		No	ClinGen gnomAD
CA9897728 rs765768685	365	A>T		No	ClinGen ExAC gnomAD
CA315885969 rs1002269614	367	N>S		No	ClinGen gnomAD
rs1441531948 CA409306701	371	V>F		No	ClinGen gnomAD
rs777210635 CA9897726	373	M>I		No	ClinGen ExAC gnomAD
CA409306681 rs777210635	373	M>I		No	ClinGen ExAC gnomAD
rs753973312 CA315885965	373	M>T		No	ClinGen Ensembl
CA315885959 rs967726061	374	A>V		No	ClinGen Ensembl
CA409306658 rs1323974490	375	K>R		No	ClinGen gnomAD
CA9897725 rs769075228	376	T>M		No	ClinGen ExAC gnomAD
CA9897721 rs745355652	382	K>T		No	ClinGen ExAC gnomAD
rs1601079477 CA409306502	385	D>G		No	ClinGen Ensembl
CA9897720 rs778356892	388	I>V		No	ClinGen ExAC gnomAD
rs201887365 CA315885914	389	R>C		No	ClinGen 1000Genomes TOPMed gnomAD
rs770485343 CA9897719	389	R>H		No	ClinGen ExAC TOPMed gnomAD
CA315885902 rs267605974	390	E>K		No	ClinGen Ensembl
CA409306413 rs1487851710	390	E>V		No	ClinGen gnomAD
rs777715381 CA9897717	391	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs755851202 CA9897716 COSM1221933	394	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA409306325 rs1380953676	394	R>H		No	ClinGen TOPMed gnomAD
rs780215978 CA9897714	395	E>K		No	ClinGen ExAC TOPMed gnomAD
CA9897680 rs759973764	401	M>R		No	ClinGen ExAC gnomAD
rs1171926006 CA409305434	401	M>V		No	ClinGen gnomAD
CA409305398 rs1406621233	402	E>G		No	ClinGen TOPMed
CA9897678 rs766101052	403	R>C		No	ClinGen ExAC gnomAD
CA9897677 rs762338783	403	R>H		No	ClinGen ExAC gnomAD
CA409305344 rs1199866536	407	V>I		No	ClinGen gnomAD
CA9897675 rs769704154	408	M>L		No	ClinGen ExAC gnomAD
rs748021457 CA9897674	409	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1252942244 CA409305303	409	I>V		No	ClinGen gnomAD
rs776554572 CA9897673	410	A>V		No	ClinGen ExAC gnomAD
rs1235356857 CA409305268	411	E>G		No	ClinGen TOPMed gnomAD
CA409305274 rs1309622341	411	E>K		No	ClinGen TOPMed
CA9897671 rs746845305	412	K>Q		No	ClinGen ExAC gnomAD
rs778984198 CA9897670	412	K>R		No	ClinGen ExAC gnomAD
CA315884249 rs954829643	418	H>Y		No	ClinGen Ensembl
rs767067665 CA315884245	419	M>I		No	ClinGen TOPMed
rs200673300 CA9897667	420	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9897666 rs756262920	421	M>V		No	ClinGen ExAC gnomAD
CA9897664 rs371561460	422	N>T		No	ClinGen ESP TOPMed
CA409305027 rs1462687099	428	I>V		No	ClinGen gnomAD
CA9897663 rs753210715	429	K>R		No	ClinGen ExAC gnomAD
CA409304986 rs1186597028	431	R>C		No	ClinGen gnomAD
rs1348321624 CA409304985	431	R>H		No	ClinGen TOPMed gnomAD
CA9897661 COSM72284 rs755273231	432	R>Q	ovary large_intestine breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs568035687 CA9897662	432	R>W		No	ClinGen 1000Genomes ExAC gnomAD
rs201395339 CA315884208	437	T>I		No	ClinGen 1000Genomes
CA409304951 rs1457417161	437	T>S		No	ClinGen gnomAD
CA9897660 rs751993738	440	K>R		No	ClinGen ExAC TOPMed gnomAD
CA9897637 rs146251514	448	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA9897636 rs753432044	449	A>S		No	ClinGen ExAC TOPMed gnomAD
CA409304215 rs1410197786	454	I>T		No	ClinGen gnomAD
rs771949431 CA9897632	455	G>D		No	ClinGen ExAC gnomAD
CA409304197 rs1382434229	456	E>K		No	ClinGen gnomAD
rs200386126 CA9897631	460	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770177349 CA9897629	462	E>G		No	ClinGen ExAC gnomAD
rs1359629322 CA409304057	465	N>S		No	ClinGen TOPMed
rs1477107766 CA409304009	469	A>T		No	ClinGen gnomAD
rs1184491110 CA409303951	473	N>K		No	ClinGen gnomAD
rs768631096 CA9897626	475	I>V		No	ClinGen ExAC gnomAD
rs780457608 CA9897624	478	H>R		No	ClinGen ExAC gnomAD
CA409303795 rs1420216829	479	V>A		No	ClinGen gnomAD
rs751554710 CA409303788	480	S>C		No	ClinGen ExAC TOPMed gnomAD
rs751554710 CA9897593	480	S>F		No	ClinGen ExAC TOPMed gnomAD
rs776865062 CA9897590	481	D>H		No	ClinGen ExAC gnomAD
rs776865062 CA315876290	481	D>N		No	ClinGen ExAC gnomAD
CA9897591 rs776865062	481	D>Y		No	ClinGen ExAC gnomAD
CA315876282 rs777865756	486	K>Q		No	ClinGen TOPMed
CA9897589 rs764273404	487	N>K		No	ClinGen ExAC gnomAD
CA409303680 rs1458758830 COSM443970	495	R>H	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
CA409303661 rs1335093360	498	D>N		No	ClinGen gnomAD
CA409303630 rs1226430394	502	K>R		No	ClinGen gnomAD
rs1355339757 CA409303618	504	R>*		No	ClinGen gnomAD
rs1280124382 CA409303617	504	R>Q		No	ClinGen gnomAD
CA9897585 rs759981203	511	M>I		No	ClinGen ExAC TOPMed gnomAD
rs199844877 CA9897586	511	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs368786438 CA9897565	515	V>A		No	ClinGen ESP ExAC gnomAD
rs1601070349 CA409303529	515	V>L		No	ClinGen Ensembl
CA9897562 rs770207109	520	R>C		No	ClinGen ExAC gnomAD
CA9897561 rs758183168	520	R>H		No	ClinGen ExAC TOPMed gnomAD
CA409303497 rs770207109	520	R>S		No	ClinGen ExAC gnomAD
rs1211485218 CA409303477	523	S>G		No	ClinGen gnomAD
CA9897558 rs746567032	524	L>V		No	ClinGen ExAC gnomAD
rs1362950120 CA409303462	525	Y>C		No	ClinGen gnomAD
rs1398584938 CA409303453	526	T>I		No	ClinGen TOPMed gnomAD
CA409303454 rs1398584938	526	T>N		No	ClinGen TOPMed gnomAD
CA9897555 rs368873353	527	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA409303449 rs368873353	527	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA315876074 rs368873353	527	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs745409185 CA9897518	532	R>H		No	ClinGen ExAC gnomAD
CA409303383 rs1469157449	535	H>Y		No	ClinGen Ensembl
CA409303353 rs1568818549	539	Y>F		No	ClinGen Ensembl
CA9897517 rs774138387	541	S>L		No	ClinGen ExAC gnomAD
rs749065812 CA9897515	543	L>V		No	ClinGen ExAC TOPMed gnomAD
rs377467262 CA9897514	544	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA9897513 rs755904660	544	P>L		No	ClinGen ExAC gnomAD
rs765835689 CA9897508	554	A>T		No	ClinGen ExAC gnomAD
CA409303256 rs1171247467	555	Q>E		No	ClinGen gnomAD
CA9897507 rs138781298	555	Q>R		No	ClinGen ESP ExAC gnomAD
rs994518047 CA315868956	556	G>A		No	ClinGen Ensembl
rs560850318 CA9897487	559	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
CA409303212 rs1294804796	559	Q>L		No	ClinGen TOPMed
rs201992254 CA9897486	560	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA409303207 rs1402748088	560	T>S		No	ClinGen gnomAD
CA315868949 rs866768339	561	R>L		No	ClinGen gnomAD
rs1464578302 CA409303190	563	E>A		No	ClinGen TOPMed gnomAD
rs1464578302 CA409303189	563	E>G		No	ClinGen TOPMed gnomAD
rs756415189 CA9897485	566	A>V		No	ClinGen ExAC gnomAD
rs767060388 CA9897483	567	L>R		No	ClinGen ExAC gnomAD
CA409303157 rs149524742	569	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9897481 rs149524742	569	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409303137 rs1262181218	572	C>Y		No	ClinGen TOPMed gnomAD
CA409303121 rs1218854501	574	N>S		No	ClinGen gnomAD
CA409303097 rs1319477411	577	M>I		No	ClinGen gnomAD
rs1276080796 CA409303091	578	H>R		No	ClinGen gnomAD
rs753153560 CA9897465	584	S>I		No	ClinGen ExAC gnomAD
CA409303031 rs1255720059	585	E>K		No	ClinGen gnomAD
CA9897464 rs781565440	594	R>C		No	ClinGen ExAC TOPMed gnomAD
CA409302942 rs1285948311	596	H>Q		No	ClinGen gnomAD
rs1356765529 CA409302945	596	H>R		No	ClinGen gnomAD
CA409302927 rs1381863671	599	E>*		No	ClinGen gnomAD
CA409302925 rs1381863671	599	E>K		No	ClinGen gnomAD
rs751175212 CA9897462	600	E>A		No	ClinGen ExAC gnomAD
CA9897461 rs766060829	602	E>V		No	ClinGen ExAC gnomAD
CA409302885 rs1159610571	604	T>I		No	ClinGen TOPMed
rs138162745 CA9897460	605	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1057376183 CA315865130	605	S>N		No	ClinGen TOPMed
CA409302877 rs1406375539	606	S>G		No	ClinGen gnomAD
COSM3405170 CA315865126 rs1024666868	606	S>N	central_nervous_system [Cosmic]	No	ClinGen cosmic curated Ensembl
CA9897459 rs749993700	608	N>K		No	ClinGen ExAC gnomAD
rs1416405194 CA409302859	608	N>S		No	ClinGen gnomAD
CA409302856 rs1287294215	609	K>Q		No	ClinGen TOPMed
CA315865114 rs1002731930	611	L>F		No	ClinGen TOPMed
rs765081103 CA9897458	612	R>C		No	ClinGen ExAC TOPMed gnomAD
CA409302833 rs1381418200	612	R>H		No	ClinGen TOPMed gnomAD
CA9897457 rs761743431	613	N>D		No	ClinGen ExAC gnomAD
CA9897456 rs776445187	613	N>S		No	ClinGen ExAC gnomAD
CA409302824 rs1203363950 COSM1027634	614	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA409302808 rs1452035951	616	K>Q		No	ClinGen gnomAD
CA9897454 rs760575146	616	K>R		No	ClinGen ExAC gnomAD
rs959119991 CA315865106	620	N>D		No	ClinGen Ensembl
rs1207787188 CA409302780	620	N>T		No	ClinGen gnomAD
rs774681439 CA409302767	622	L>V		No	ClinGen ExAC gnomAD
CA409302759 rs1260631903	623	A>G		No	ClinGen Ensembl
CA9897452 rs771323938	625	R>C		No	ClinGen ExAC TOPMed gnomAD
CA315865094 rs150394441	625	R>H		No	ClinGen ESP gnomAD
CA409302741 rs1331713142	626	L>R		No	ClinGen TOPMed
CA9897425 rs758775120	628	I>F		No	ClinGen ExAC gnomAD
CA315864002 rs374082917	629	L>V		No	ClinGen ESP TOPMed
CA409302705 rs1382839689	630	P>H		No	ClinGen TOPMed
CA409302690 rs1241406296 COSM1027625	632	E>D	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs778459081 CA9897423	635	Y>C		No	ClinGen ExAC gnomAD
rs62621889 CA9897421	639	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs565111779 CA9897419	640	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA409302602 rs1252893307	644	K>R		No	ClinGen TOPMed
rs1398488821 CA409302597	645	A>T		No	ClinGen gnomAD
rs1361909251 CA409302592	646	V>M		No	ClinGen gnomAD
rs752699510 CA9897418	650	S>C		No	ClinGen ExAC TOPMed gnomAD
CA9897416 rs146847114	651	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750630005 CA9897415	653	R>W		No	ClinGen ExAC gnomAD
CA9897414 rs528574615	654	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761941761 CA9897413	655	S>A		No	ClinGen ExAC gnomAD
CA409302533 rs1172591295 COSM1307493	655	S>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1418771482 CA409302531	656	L>V		No	ClinGen gnomAD
VAR_061798 CA9897388 rs55904123	659	V>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1363682430 CA409302495	660	A>T		No	ClinGen TOPMed gnomAD
rs1169549200 CA409302471	664	V>L		No	ClinGen TOPMed
CA9897387 rs771327391	665	G>A		No	ClinGen ExAC gnomAD
rs1382249871 CA409302450	667	K>T		No	ClinGen gnomAD
rs1418743700 CA409302434	669	Y>C		No	ClinGen TOPMed gnomAD
CA9897386 rs748847563	673	E>Q		No	ClinGen ExAC gnomAD
rs773033773 CA9897385	674	D>Y		No	ClinGen ExAC gnomAD
rs537541655 CA315863478	675	L>V		No	ClinGen TOPMed
rs1356391838 CA409302370	679	R>Q		No	ClinGen TOPMed gnomAD
rs753893013 CA9897382	679	R>W		No	ClinGen ExAC TOPMed gnomAD
rs540113110 CA9897381	680	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA409302363 rs1601050757	681	F>V		No	ClinGen Ensembl
rs1334835333 CA409302354	682	S>A		No	ClinGen TOPMed gnomAD
rs1388351404 CA409302339	684	V>M		No	ClinGen TOPMed gnomAD
rs779656392 CA9897379	685	E>D		No	ClinGen ExAC gnomAD
CA409302321 rs1302229333	687	I>V		No	ClinGen gnomAD
rs1254764893 CA409302313	688	L>F		No	ClinGen TOPMed
CA9897377 rs753965934	690	Q>R		No	ClinGen ExAC gnomAD
rs764337634 CA9897376	692	F>V		No	ClinGen ExAC gnomAD
CA409302276 rs1453102835	693	C>F		No	ClinGen gnomAD
CA409302268 rs1378474170	694	S>F		No	ClinGen TOPMed gnomAD
rs200738159 CA9897375	695	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs7271583 CA9897374 VAR_057191	696	R>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA315863432 rs370411306	696	R>H		No	ClinGen TOPMed gnomAD
CA9897373 rs768004159	697	P>L		No	ClinGen ExAC TOPMed gnomAD
CA409302256 rs1489571864	697	P>S		No	ClinGen gnomAD
CA9897371 rs202212537	698	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs373231511 CA9897370 COSM1027616	699	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA9897369 rs763418560	699	R>H		No	ClinGen ExAC TOPMed gnomAD
rs747658660 CA9897366	702	V>L		No	ClinGen ExAC gnomAD
rs1316101921 CA409302228	703	A>S		No	ClinGen gnomAD
CA9897364 rs768227498	704	T>K		No	ClinGen ExAC TOPMed gnomAD
CA9897365 rs768227498	704	T>M		No	ClinGen ExAC TOPMed gnomAD
CA409302202 rs1304594253	707	K>R		No	ClinGen gnomAD
rs1468446648 CA409302197	708	E>K		No	ClinGen gnomAD
rs780422601 CA9897336	710	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1601049121 CA409302151	712	I>T		No	ClinGen Ensembl
rs1601049100 CA409302140	714	D>A		No	ClinGen Ensembl
rs750980957 CA9897334	714	D>N		No	ClinGen ExAC TOPMed gnomAD
CA409302135 rs1347771874	715	Q>E		No	ClinGen gnomAD
rs146943138 CA315862569	716	P>A		No	ClinGen 1000Genomes
rs775874146 CA9897333	716	P>L		No	ClinGen ExAC TOPMed gnomAD
CA409302125 rs775874146	716	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA9897331 rs753510247	717	D>N		No	ClinGen ExAC gnomAD
CA409302106 rs1159236125	719	L>R		No	ClinGen gnomAD
CA409302098 rs1243030659	720	C>W		No	ClinGen gnomAD
CA409302100 rs1250213436	720	C>Y		No	ClinGen TOPMed
rs1401908212 CA409302096	721	F>L		No	ClinGen gnomAD
rs1405405695 CA409302086	722	Q>R		No	ClinGen gnomAD
rs144910943 CA9897330	723	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA9897328 rs377520743 COSM189684	724	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
RCV000882664 CA9897327 rs112806196	724	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1196949008 CA409302065	726	A>T		No	ClinGen TOPMed gnomAD
rs193131466 CA9897326	727	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774290280 CA9897325	728	P>S		No	ClinGen ExAC gnomAD
rs373796253 CA409302047	729	P>A		No	ClinGen ESP TOPMed gnomAD
CA409302043 rs1220039244	729	P>L		No	ClinGen gnomAD
CA315862551 rs373796253	729	P>S		No	ClinGen ESP TOPMed gnomAD
CA409302041 rs1281795164	730	Y>H		No	ClinGen gnomAD
COSM267255 rs139250516 CA9897321	731	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs375108188 CA9897319	732	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs375108188 CA409302025	732	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA315862517 rs746158805	733	A>G		No	ClinGen Ensembl
CA9897317 rs201653100	734	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA409302017 rs1342925718	734	V>L		No	ClinGen gnomAD
CA9897316 rs779603479	735	G>E		No	ClinGen ExAC gnomAD
rs1568804889 CA409333252	739	E>K		No	ClinGen Ensembl
rs896404801 CA315909992	742	A>S		No	ClinGen TOPMed
rs1033320162 CA315909988	748	G>S		No	ClinGen Ensembl
CA9897305 rs762735819	751	I>L		No	ClinGen ExAC gnomAD
rs1601047459 CA409332899	752	L>R		No	ClinGen Ensembl
CA9897304 rs367557082	754	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373710294 CA9897302	755	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1384353174 CA409332808	756	G>D		No	ClinGen gnomAD
COSM1740671 CA9897300 rs371255905	759	V>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
COSM1533588 rs745993584 CA9897299	760	M>I	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1373545087 CA409332691	760	M>T		No	ClinGen gnomAD
rs757905308 CA9897297	761	N>K		No	ClinGen ExAC TOPMed gnomAD
COSM4134615 CA9897298 RCV000971134 rs146210678	761	N>S	thyroid [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs146210678 CA409332648	761	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1426699871 CA409332614	762	D>G		No	ClinGen gnomAD
rs1043508294 CA315909910	762	D>N		No	ClinGen gnomAD
rs1043508294 CA409332621	762	D>Y		No	ClinGen gnomAD
CA315909907 rs947542043	765	P>L		No	ClinGen TOPMed
CA9897293 rs144218094	767	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9897292 rs767210232	770	H>Y		No	ClinGen ExAC gnomAD
CA9897291 rs754476077	773	A>V		No	ClinGen ExAC gnomAD
rs1225369937 CA409332206	774	F>S		No	ClinGen gnomAD
COSM1412288 CA9897289 rs765882639	775	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs751140183 CA9897290	775	R>W		No	ClinGen ExAC TOPMed gnomAD
CA9897288 rs139921407	776	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA9897287 rs773046371	776	S>N		No	ClinGen ExAC gnomAD
rs368578845 CA9897284	777	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA9897283 rs368578845	777	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs371398821 CA9897285	777	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA9897282 rs745938338	778	R>C		No	ClinGen ExAC TOPMed gnomAD
rs774505675 CA9897281	778	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1454349955 CA409332086	779	E>A		No	ClinGen gnomAD
rs749750409 CA9897279 COSM189681	779	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs778171025 CA9897278	780	E>V		No	ClinGen ExAC gnomAD
rs184642062 CA9897277	781	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409332014 rs1418651672	781	A>V		No	ClinGen gnomAD
CA409331722 rs1328075600	783	G>A		No	ClinGen TOPMed gnomAD
rs1381684209 CA409331691	785	Y>H		No	ClinGen gnomAD
CA9897249 rs41283558 VAR_061799	786	Q>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA409331659 rs1601046664	786	Q>P		No	ClinGen Ensembl
rs200304859 CA9897247	789	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA9897248 rs571845949	789	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
CA409331599 rs1601046639	791	T>P		No	ClinGen Ensembl
CA9897245 rs763929186	792	H>N		No	ClinGen ExAC gnomAD
CA409331581 rs1464001745	792	H>R		No	ClinGen gnomAD
CA9897244 rs760573159	793	E>G		No	ClinGen ExAC TOPMed gnomAD
CA9897242 rs138225850	794	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409331497 rs1601046619	796	Q>P		No	ClinGen Ensembl
CA409331483 rs1243443327	797	E>K		No	ClinGen gnomAD
CA315909296 rs1026124550	798	A>V		No	ClinGen TOPMed
rs1003090112 CA315909290	799	R>G		No	ClinGen Ensembl
rs763086676 CA9897241	799	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1018640757 CA315909283	800	A>V		No	ClinGen Ensembl
CA9897239 rs148057033	802	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777153961 CA9897237	805	S>F		No	ClinGen ExAC gnomAD
CA9897236 rs768979457	806	T>A		No	ClinGen ExAC TOPMed gnomAD
CA9897235 rs567754455	806	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs147004491 CA9897234	807	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1317169629 CA409331237	808	D>V		No	ClinGen gnomAD
rs1450744056 CA409331218	809	P>R		No	ClinGen gnomAD
rs1016191853 CA315909255	810	S>T		No	ClinGen TOPMed
rs771686746 CA9897233	811	G>V		No	ClinGen ExAC gnomAD
CA9897231 rs752168368	812	E>K		No	ClinGen ExAC TOPMed gnomAD
CA315909227 rs898732673	814	A>V		No	ClinGen Ensembl
rs1460132928 CA409331097	817	E>G		No	ClinGen gnomAD
CA409331085 rs1425768314	818	D>Y		No	ClinGen gnomAD
CA9897230 rs756810058	821	D>G		No	ClinGen ExAC gnomAD
CA9897210 rs142986821	823	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142986821 CA315908369	823	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409330155 rs1220418788	825	P>L		No	ClinGen gnomAD
rs1451099709 CA409330154	826	L>M		No	ClinGen TOPMed gnomAD
rs1348742136 CA409330130	830	G>A		No	ClinGen gnomAD
rs1348742136 CA409330131	830	G>D		No	ClinGen gnomAD
rs748112228 CA9897209	830	G>R		No	ClinGen ExAC gnomAD
CA315908365 rs748112228	830	G>S		No	ClinGen ExAC gnomAD
CA9897207 rs138988694	832	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs780805102 CA9897208	832	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1568803510 CA409330080	836	C>R		No	ClinGen Ensembl
CA409330076 rs1433759766	836	C>Y		No	ClinGen gnomAD
rs753983295 CA9897203	838	D>G		No	ClinGen ExAC gnomAD
CA409329985 rs1402110249	839	S>G		No	ClinGen gnomAD
rs142400901 CA9897202	839	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9897201 rs138280268	840	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1374140477 CA409329924	841	M>T		No	ClinGen gnomAD
rs776085593 CA9897200	842	V>I		No	ClinGen ExAC gnomAD
rs1431437215 CA409329864	843	T>I		No	ClinGen TOPMed gnomAD
rs773850369 CA9897197	849	V>M		No	ClinGen ExAC gnomAD
CA9897195 rs748956332	854	G>S		No	ClinGen ExAC gnomAD
CA9897193 rs769455129	856	V>A		No	ClinGen ExAC gnomAD
CA315908305 rs982293935	862	T>A		No	ClinGen Ensembl
rs754708166 CA9897190	862	T>M		No	ClinGen ExAC TOPMed gnomAD
CA9897188 rs140630822	863	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767028880 CA9897187	865	V>I		No	ClinGen ExAC TOPMed gnomAD
CA9897185 rs777780810	866	R>T		No	ClinGen ExAC gnomAD
rs756217181 CA9897184	867	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1413867339 CA409329350	868	H>R		No	ClinGen TOPMed gnomAD
CA9897181 rs759802564	869	V>M		No	ClinGen ExAC gnomAD
CA315908262 rs958103719	870	L>Q		No	ClinGen Ensembl
CA409329263 rs1447716919	872	K>R		No	ClinGen gnomAD
rs752025821 CA315908247	874	V>L		No	ClinGen ExAC TOPMed gnomAD
CA9897180 rs752025821	874	V>M		No	ClinGen ExAC TOPMed gnomAD
rs769401898 CA9897176	877	R>C		No	ClinGen ExAC gnomAD
COSM3963636 rs761435089 CA9897175	877	R>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM2155615 CA9897171 rs779765138	878	G>S	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA9897170 rs771876138	879	C>S		No	ClinGen ExAC gnomAD
rs758928419 CA9897169	880	F>L		No	ClinGen ExAC gnomAD
CA9897166 rs752876453	881	G>D		No	ClinGen ExAC TOPMed gnomAD
CA9897167 rs111932525	881	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1601045275 CA409329095	883	T>P		No	ClinGen Ensembl
CA9897164 rs755458293	884	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9897145 rs747490945	886	I>V		No	ClinGen ExAC TOPMed gnomAD
rs758822863 CA9897143	888	E>K		No	ClinGen ExAC gnomAD
rs758822863 CA409328737	888	E>Q		No	ClinGen ExAC gnomAD
CA409328677 rs1222656440	889	A>S		No	ClinGen gnomAD
rs924208948 CA315907880	889	A>V		No	ClinGen Ensembl
CA409328630 rs1050154722	891	A>P		No	ClinGen TOPMed gnomAD
rs1050154722 CA315907879	891	A>S		No	ClinGen TOPMed gnomAD
CA409328620 rs1243627546	891	A>V		No	ClinGen gnomAD
rs1568803028 CA409328605	892	A>T		No	ClinGen Ensembl
rs753454119 COSM1221925 CA9897139	896	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs146651491 CA9897137	898	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs146651491 CA9897136 COSM1166245	898	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1406918193 CA409328315	901	C>F		No	ClinGen gnomAD
rs532813287 CA9897135	902	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA409328289 rs1292959583	902	R>K		No	ClinGen gnomAD
CA409328296 rs532813287	902	R>W		No	ClinGen 1000Genomes ExAC gnomAD
rs1320652549 CA409328269	903	R>Q		No	ClinGen TOPMed
rs759318978 CA9897134	903	R>W		No	ClinGen ExAC gnomAD
CA409328258 rs1347148456	904	L>F		No	ClinGen TOPMed gnomAD
CA9897132 rs143295170	906	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9897133 rs143295170	906	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1430693300 CA409328168	909	S>G		No	ClinGen gnomAD
CA409328132 rs1264679613	910	A>D		No	ClinGen gnomAD
rs776761494 CA9897130	910	A>T		No	ClinGen ExAC gnomAD
CA9897129 rs768763216	911	I>V		No	ClinGen ExAC gnomAD
rs373200161 CA9897127	912	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9897125 rs746393157	914	M>L		No	ClinGen ExAC gnomAD
CA9897126 rs746393157	914	M>V		No	ClinGen ExAC gnomAD
CA409328000 rs1263555858	915	P>R		No	ClinGen gnomAD
rs779286270 CA9897124	915	P>S		No	ClinGen ExAC gnomAD
CA409327974 rs1225292257	916	H>P		No	ClinGen gnomAD
CA9897123 rs757593154	920	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9897122 rs571486009	920	R>H		No	ClinGen ExAC TOPMed gnomAD
rs752267649 CA9897119	929	S>I		No	ClinGen ExAC gnomAD
rs1485239828 CA409327538	932	Q>R		No	ClinGen TOPMed gnomAD
CA409327523 rs1178969083	933	R>T		No	ClinGen gnomAD
rs369861308 CA9897117	934	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA409327490 rs1377529113	935	A>S		No	ClinGen gnomAD
rs1197607003 CA409327481	935	A>V		No	ClinGen gnomAD
rs766169447 CA9897115	936	C>W		No	ClinGen ExAC gnomAD
rs1248471556 CA409327475	936	C>Y		No	ClinGen TOPMed
rs1186288507 CA409327446	938	Q>R		No	ClinGen gnomAD
CA409327249 rs1286041486	941	A>T		No	ClinGen gnomAD
CA409327162 rs771408493	943	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs146886190 CA9897088	946	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1489347035 CA409327080	947	R>G		No	ClinGen TOPMed
CA315907066 rs376580689	947	R>K		No	ClinGen ESP TOPMed
rs1021057205 CA315907064	947	R>S		No	ClinGen TOPMed gnomAD
CA315907056 rs977686287	949	S>G		No	ClinGen TOPMed
CA9897087 rs777941185	950	P>S		No	ClinGen ExAC gnomAD
CA315907046 rs997666562	951	P>L		No	ClinGen TOPMed gnomAD
rs997666562 CA409326962	951	P>R		No	ClinGen TOPMed gnomAD
rs574445735 CA9897086	953	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747769384 CA409326880	955	A>D		No	ClinGen ExAC gnomAD
CA315907036 rs945081633	955	A>P		No	ClinGen TOPMed
rs747769384 CA9897085	955	A>V		No	ClinGen ExAC gnomAD
rs1417254203 CA409326854	956	P>L		No	ClinGen TOPMed
rs754472122 CA9897083	958	E>G		No	ClinGen ExAC gnomAD
CA9897082 rs751096642	959	P>R		No	ClinGen ExAC gnomAD
rs2664569 CA315906992	960	H>Q		No	ClinGen TOPMed
rs1473427836 CA409326780	961	P>A		No	ClinGen gnomAD
COSM1307491 rs41283554 CA9897081	961	P>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs41283554 CA409326766	961	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409326716 rs1298888089	964	G>D		No	ClinGen TOPMed
CA315906970 rs868736514	967	F>V		No	ClinGen Ensembl
rs1292371619 CA409326628	968	C>Y		No	ClinGen gnomAD
rs537318123 CA9897078	971	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs537318123 CA9897079	971	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs139220518 CA9897076	972	C>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139220518 CA9897077	972	C>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9897074 rs759657175	973	H>R		No	ClinGen ExAC TOPMed gnomAD
rs774228296 CA9897073	974	I>T		No	ClinGen ExAC gnomAD
rs368033397 CA315906943	976	L>F		No	ClinGen Ensembl
rs929351375 CA409326355	980	S>F		No	ClinGen TOPMed
CA315906926 rs929351375	980	S>Y		No	ClinGen TOPMed
CA409326328 rs1212194373	981	Y>C		No	ClinGen TOPMed
CA9897072 rs771055527	982	P>S		No	ClinGen ExAC gnomAD
CA9897070 rs773751025	985	T>A		No	ClinGen ExAC gnomAD
rs1474719896 CA409326232	985	T>I		No	ClinGen gnomAD
rs773751025 CA409326238	985	T>P		No	ClinGen ExAC gnomAD
rs1403067660 CA409326230	986	P>A		No	ClinGen gnomAD
rs1403067660 CA409326231	986	P>T		No	ClinGen gnomAD
rs770124317 CA9897069	992	F>V		No	ClinGen ExAC gnomAD
CA409326092 rs1409404227	995	R>C		No	ClinGen gnomAD
rs748571116 CA9897068	996	F>L		No	ClinGen ExAC gnomAD
rs1183001582 CA409326043	998	R>C		No	ClinGen TOPMed
rs1601043993 CA409326033	998	R>H		No	ClinGen Ensembl
rs1015559941 CA315906876	999	K>N		No	ClinGen TOPMed
rs768235010 CA9897066	1000	P>L		No	ClinGen ExAC gnomAD
CA409326016 rs1248647453	1000	P>T		No	ClinGen gnomAD
CA9897064 rs779385584	1003	I>L		No	ClinGen ExAC gnomAD
COSM1027607 CA9897062 rs61748370	1004	G>S	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA9897061 rs779040272	1004	G>V		No	ClinGen ExAC gnomAD
rs757101993 CA9897060	1006	D>H		No	ClinGen ExAC
rs753748560 CA9897059	1007	P>A		No	ClinGen ExAC TOPMed gnomAD
CA9897058 COSM3423702 rs763984566	1007	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA409325937 rs1433879241	1008	E>V		No	ClinGen gnomAD
rs935943382 CA315906839	1009	Q>E		No	ClinGen Ensembl
rs751828095 CA9897056	1009	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA409325126 rs1248232622	1012	L>V		No	ClinGen TOPMed
rs1394632248 CA409325059	1014	P>R		No	ClinGen TOPMed
rs1601043521 CA409325069	1014	P>S		No	ClinGen Ensembl
CA409325037 rs1440575732	1015	M>I		No	ClinGen TOPMed
rs1389656920 CA409325006	1016	S>L		No	ClinGen TOPMed gnomAD
rs751710329 CA9897038	1018	T>I		No	ClinGen ExAC gnomAD
CA9897036 rs758405086	1019	Q>H		No	ClinGen ExAC
rs1209836809 CA409324903	1019	Q>K		No	ClinGen gnomAD
CA409324815 rs1274871954	1022	I>V		No	ClinGen gnomAD
CA9897034 rs376461777	1023	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs921014647 CA315906370	1025	M>V		No	ClinGen TOPMed
rs762262761 CA9897033	1027	A>T		No	ClinGen ExAC TOPMed gnomAD
CA409324655 rs1296238246	1028	P>S		No	ClinGen gnomAD
rs1377116907 CA409324616	1030	W>S		No	ClinGen TOPMed
rs1228467212 CA409324519	1032	C>W		No	ClinGen gnomAD
rs1241932321 CA409324475	1035	A>T		No	ClinGen TOPMed
CA409324432 rs1601043424	1037	E>D		No	ClinGen Ensembl
CA9897032 rs777156181	1037	E>K		No	ClinGen ExAC gnomAD
rs1301069718 CA409324419	1038	G>A		No	ClinGen gnomAD
CA409324403 rs1601043409	1039	D>G		No	ClinGen Ensembl
CA409324378 rs1446980061	1040	P>L		No	ClinGen gnomAD
CA409324322 rs1041222739	1043	Q>*		No	ClinGen TOPMed gnomAD
CA315906343 rs1041222739	1043	Q>E		No	ClinGen TOPMed gnomAD
rs764337037 CA9897031	1043	Q>P		No	ClinGen ExAC gnomAD
rs1232188120 CA409324300	1044	G>R		No	ClinGen TOPMed gnomAD
rs1232188120 CA409324304	1044	G>S		No	ClinGen TOPMed gnomAD
CA9897030 rs201253741	1044	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9897029 rs774989648	1045	L>V		No	ClinGen ExAC gnomAD
rs139057530 CA315906335	1046	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9897028 rs139057530	1046	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1713616 CA409324258 rs1425694574	1046	H>Y	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs376348496 CA315906332	1047	D>H		No	ClinGen TOPMed
rs759262364 CA9897027	1047	D>V		No	ClinGen ExAC gnomAD
rs770586137 CA9897025	1050	F>L		No	ClinGen ExAC gnomAD
rs1024320477 CA409324143	1051	G>R		No	ClinGen TOPMed
rs1024320477 CA315906293	1051	G>R		No	ClinGen TOPMed
rs368229031 CA9897023	1052	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1273547534 CA409324077	1053	A>V		No	ClinGen gnomAD
rs769464894 CA9897022	1054	S>G		No	ClinGen ExAC gnomAD
CA9897021 rs771695747	1054	S>N		No	ClinGen ExAC gnomAD
CA9897020 rs780854230	1055	G>E		No	ClinGen ExAC gnomAD
CA409324052 rs1199490817	1055	G>R		No	ClinGen gnomAD
rs1227694832 CA409324025	1057	L>F		No	ClinGen gnomAD
CA409324014 rs1416541348	1058	G>D		No	ClinGen TOPMed
CA9897019 rs568095089	1059	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
CA409323982 rs1289988306	1060	E>D		No	ClinGen gnomAD
rs374319615 CA409323963	1062	R>P		No	ClinGen ESP TOPMed gnomAD
CA315906258 rs374319615	1062	R>Q		No	ClinGen ESP TOPMed gnomAD
rs186606574 CA315906269	1062	R>W		No	ClinGen 1000Genomes TOPMed gnomAD
CA9897018 rs750669958	1066	F>I		No	ClinGen ExAC gnomAD
CA9897015 rs754324714	1068	L>F		No	ClinGen ExAC gnomAD
rs760940386 CA9897013	1069	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1472499472 CA409323884	1069	K>M		No	ClinGen gnomAD
rs753033889 CA9897012	1070	Q>R		No	ClinGen ExAC gnomAD
CA409323843 rs1191448175	1073	R>C		No	ClinGen gnomAD
CA409323840 rs1489148508	1073	R>H		No	ClinGen TOPMed gnomAD
rs374070654 CA9897011	1074	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA9897009 rs201967121	1077	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA9897008 rs201967121	1077	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1226322569 CA409323777	1078	A>V		No	ClinGen gnomAD
CA9897005 rs769705731	1081	Q>P		No	ClinGen ExAC gnomAD
rs1365506722 CA409323707	1084	T>I		No	ClinGen gnomAD
CA409323665 rs1293016161	1088	V>L		No	ClinGen gnomAD
CA9897003 rs780995507	1089	A>T		No	ClinGen ExAC gnomAD
rs922230976 CA315906101	1096	Y>H		No	ClinGen Ensembl
rs1188279149 CA409323534	1097	V>I		No	ClinGen TOPMed
CA409323513 rs1239334356	1098	T>I		No	ClinGen TOPMed
COSM1027601 CA9896998 rs754014614	1099	Q>H	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA315906094 rs1040733011	1099	Q>R		No	ClinGen TOPMed
rs571136869 CA9896976	1102	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9896975 rs546386088	1107	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs527243767 CA9896974	1110	P>H		No	ClinGen ExAC gnomAD
CA409322867 rs1311844653	1110	P>S		No	ClinGen TOPMed gnomAD
CA315903160 rs532471774	1112	S>L		No	ClinGen gnomAD
COSM3693553 CA409322811 rs1368959457	1113	G>D	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs376311381 CA9896969	1117	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA315903147 rs376311381	1117	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs6012504 CA9896967 VAR_057192	1118	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9896966 rs775203579	1119	S>T		No	ClinGen ExAC gnomAD
CA409322689 rs1402340998	1120	L>F		No	ClinGen gnomAD
rs1360049380 CA409322668	1122	E>V		No	ClinGen TOPMed
rs771872406 CA9896965	1123	E>K		No	ClinGen ExAC gnomAD
rs749485711 CA9896964	1124	A>V		No	ClinGen ExAC gnomAD
CA409322616 rs1300675332	1125	S>P		No	ClinGen TOPMed
CA9896961 rs748232548	1127	L>M		No	ClinGen ExAC gnomAD
CA9896960 rs781427861	1127	L>P		No	ClinGen ExAC gnomAD
rs747541835 CA9896958	1128	P>L		No	ClinGen ExAC gnomAD
rs755486628 CA9896959	1128	P>S		No	ClinGen ExAC gnomAD
CA409322548 rs1401087354	1132	E>V		No	ClinGen TOPMed
rs1380795100 CA409322541	1133	E>*		No	ClinGen gnomAD
rs758733786 CA9896956	1133	E>G		No	ClinGen ExAC gnomAD
rs758733786 CA409322540	1133	E>V		No	ClinGen ExAC gnomAD
CA409322502 rs1408824910	1135	E>G		No	ClinGen TOPMed gnomAD
rs1393420960 CA409322487	1136	M>R		No	ClinGen gnomAD
rs377685398 CA9896954	1139	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA9896953 rs756789711	1140	D>E		No	ClinGen ExAC gnomAD
CA409322417 rs753275404	1141	H>L		No	ClinGen ExAC TOPMed gnomAD
rs753275404 CA9896952	1141	H>P		No	ClinGen ExAC TOPMed gnomAD
CA9896951 rs763605293	1141	H>Q		No	ClinGen ExAC gnomAD
CA409322401 rs1473480081	1143	G>S		No	ClinGen gnomAD
CA409322341 rs1452200707	1148	C>Y		No	ClinGen gnomAD
CA409322307 rs1292133780	1150	K>M		No	ClinGen gnomAD
rs759296189 CA9896947	1153	E>K		No	ClinGen ExAC gnomAD
rs563279377 CA9896946	1156	Q>L		No	ClinGen 1000Genomes ExAC gnomAD
CA9896945 rs563279377	1156	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA9896943 rs776803064	1159	S>*		No	ClinGen ExAC gnomAD
rs747490930 CA409322155	1162	D>H		No	ClinGen ExAC TOPMed gnomAD
CA9896941 rs747490930	1162	D>N		No	ClinGen ExAC TOPMed gnomAD
CA409322140 rs1287300161	1163	T>A		No	ClinGen TOPMed gnomAD
CA409322133 rs1438155756	1164	M>V		No	ClinGen gnomAD
CA9896940 rs780759564	1167	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9896939 rs145164981	1167	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs370780889 CA9896937	1168	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA409322073 rs1158154753	1168	D>V		No	ClinGen gnomAD
rs376069738 CA9896936	1170	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs753506874 CA9896935	1171	S>G		No	ClinGen ExAC gnomAD
rs6066805 CA315902962	1171	S>N		No	ClinGen Ensembl
rs1444536594 CA409321086	1172	E>D		No	ClinGen gnomAD
CA9896915 rs755607721	1172	E>K		No	ClinGen ExAC gnomAD
CA409321082 rs1280251709	1173	C>R		No	ClinGen gnomAD
rs747722456 CA9896914	1173	C>Y		No	ClinGen ExAC gnomAD
rs1346443108 CA409321051	1174	N>D		No	ClinGen TOPMed gnomAD
CA409321027 rs1297701649	1174	N>K		No	ClinGen gnomAD
CA9896913 rs780768636	1176	N>S		No	ClinGen ExAC TOPMed gnomAD
CA409320935 rs1359762426	1177	R>Q		No	ClinGen gnomAD
CA315901877 rs867828667	1179	S>L		No	ClinGen Ensembl
rs758320579 CA9896909	1180	V>D		No	ClinGen ExAC gnomAD
CA9896910 rs766057774	1180	V>F		No	ClinGen ExAC gnomAD
CA9896907 rs764482891	1181	L>P		No	ClinGen ExAC gnomAD
CA409320813 rs1225156390	1183	Y>F		No	ClinGen Ensembl
rs760986333 CA9896906	1184	T>A		No	ClinGen ExAC TOPMed gnomAD
CA9896905 rs775370573	1184	T>S		No	ClinGen ExAC TOPMed gnomAD
CA409320790 rs1182986552	1185	S>G		No	ClinGen gnomAD
CA9896903 rs759917568	1185	S>R		No	ClinGen ExAC TOPMed gnomAD
CA9896902 rs774958876 COSM1027598	1186	V>M	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs764725578 CA315901784	1196	D>E		No	ClinGen ExAC TOPMed gnomAD
CA9896897 rs747822301	1196	D>N		No	ClinGen ExAC gnomAD
CA409320407 rs1380991041	1197	E>K		No	ClinGen gnomAD
rs746899720 CA409320376	1198	M>L		No	ClinGen ExAC gnomAD
rs746899720 CA9896894	1198	M>V		No	ClinGen ExAC gnomAD
rs113093750 CA315900011	1208	M>T		No	ClinGen Ensembl
rs150957384 CA9896871	1209	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs755005759 CA9896869	1211	P>L		No	ClinGen ExAC gnomAD
CA9896870 rs781532811	1211	P>S		No	ClinGen ExAC gnomAD
CA409319122 rs1465136289	1216	D>G		No	ClinGen gnomAD
CA409319041 rs1236698159	1219	H>L		No	ClinGen TOPMed gnomAD
rs1415703566 CA409319000	1221	C>F		No	ClinGen TOPMed
CA409318932 rs1220982361	1224	H>Y		No	ClinGen gnomAD
CA409318886 rs1325759612	1225	L>F		No	ClinGen gnomAD
rs1209235472 CA409318546	1231	S>C		No	ClinGen TOPMed
CA9896839 rs142540700	1233	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1484807638 CA409318455	1235	L>F		No	ClinGen gnomAD
CA315899673 rs566545235	1236	L>F		No	ClinGen Ensembl
CA409318409 rs1279944725	1237	K>Q		No	ClinGen gnomAD
rs759171440 CA9896837 COSM189659	1238	G>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1341604215 CA409318367	1239	P>T		No	ClinGen gnomAD
rs16993997 VAR_023210 CA9896836	1240	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA315899645 rs747424050	1241	M>I		No	ClinGen Ensembl
rs1341377102 CA409318318	1241	M>V		No	ClinGen gnomAD
CA315899644 rs919609012	1242	S>T		No	ClinGen Ensembl
CA9896833 rs147252615	1243	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs140593918 CA9896834	1243	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA315899636 rs961179414	1246	E>G		No	ClinGen Ensembl
COSM176443 CA9896831 rs747211086	1246	E>K	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs780315223 CA409318111	1247	E>D		No	ClinGen ExAC TOPMed gnomAD
rs200421256 CA315899634	1248	T>I		No	ClinGen 1000Genomes
rs1479987235 CA409318068	1249	K>R		No	ClinGen TOPMed gnomAD
rs1295997331 CA409317965	1252	P>R		No	ClinGen TOPMed
rs745883968 CA9896828	1253	M>L		No	ClinGen ExAC TOPMed gnomAD
rs745883968 CA9896829	1253	M>V		No	ClinGen ExAC TOPMed gnomAD
CA9896827 rs778979867	1254	N>S		No	ClinGen ExAC gnomAD
rs1436636305 CA409317896	1255	H>R		No	ClinGen TOPMed
rs1005044356 CA315899631	1257	L>V		No	ClinGen Ensembl
CA409317841 rs1369052366	1258	Q>E		No	ClinGen gnomAD
CA409317834 rs1166802905	1258	Q>R		No	ClinGen gnomAD
CA409316597 rs1225899176	1266	C>R		No	ClinGen gnomAD
CA409316593 rs1352375108	1266	C>Y		No	ClinGen gnomAD
CA315897394 COSM1412280 rs1045054984	1269	R>C	large_intestine skin [Cosmic]	No	ClinGen cosmic curated TOPMed
rs149728882 CA9896807	1269	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1371122533 CA409316520	1270	G>C		No	ClinGen gnomAD
COSM3939387 rs753042714 CA9896805	1271	R>Q	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs202017822 CA9896806	1271	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA409316491 rs1419053360	1272	S>G		No	ClinGen gnomAD
CA409316474 rs200774333	1272	S>R		No	ClinGen ExAC TOPMed gnomAD
rs200774333 CA9896803	1272	S>R		No	ClinGen ExAC TOPMed gnomAD
rs373284558 CA9896802	1275	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs765891477 CA9896801	1277	S>R		No	ClinGen ExAC gnomAD
rs1383025696 CA409316362	1278	I>L		No	ClinGen gnomAD
CA9896800 rs143830265	1279	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1478366599 CA409316332	1280	E>G		No	ClinGen gnomAD
rs1396981800 CA409316317	1281	D>G		No	ClinGen gnomAD
CA409316320 rs1396981800	1281	D>V		No	ClinGen gnomAD
CA9896798 rs368676179	1284	N>S		No	ClinGen ESP ExAC gnomAD
CA9896797 rs761755295	1285	L>F		No	ClinGen ExAC gnomAD
CA409316261 rs768474088	1287	N>D		No	ClinGen ExAC TOPMed gnomAD
CA9896795 rs768474088	1287	N>H		No	ClinGen ExAC TOPMed gnomAD
rs1204199653 CA409316258	1287	N>S		No	ClinGen gnomAD
CA409316233 rs1304988643	1290	K>N		No	ClinGen gnomAD
rs759727690 CA9896794	1291	T>S		No	ClinGen ExAC gnomAD
COSM1221921 CA9896792 rs771026859	1292	L>P	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA409316223 rs1432584660	1293	V>M		No	ClinGen gnomAD
CA409316207 rs1324486729	1295	N>D		No	ClinGen TOPMed gnomAD
rs1324486729 CA409316209	1295	N>H		No	ClinGen TOPMed gnomAD
rs1317823589 CA409316200	1296	I>V		No	ClinGen gnomAD
CA409316176 rs749392176	1299	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA9896791 rs749392176	1299	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs1171830961 CA409316172	1300	V>M		No	ClinGen gnomAD
rs773115865 CA9896771	1303	G>E		No	ClinGen ExAC TOPMed gnomAD
CA9896772 rs763248023	1303	G>W		No	ClinGen ExAC
CA409315580 rs1272263080	1313	K>T		No	ClinGen gnomAD
rs769138464 CA409315560	1314	C>W		No	ClinGen ExAC gnomAD
rs780482607 CA9896766	1315	T>A		No	ClinGen ExAC gnomAD
CA9896765 rs780482607	1315	T>S		No	ClinGen ExAC gnomAD
CA315895543 rs913891470	1316	D>N		No	ClinGen TOPMed
rs554802399 CA9896738	1317	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9896736 rs767185172	1318	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1316342707 CA409314834	1321	L>Q		No	ClinGen gnomAD
rs750669470 CA9896734	1322	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9896733 rs765489380	1322	R>H		No	ClinGen ExAC TOPMed gnomAD
CA409314746 rs1303365031	1324	D>H		No	ClinGen gnomAD
CA9896731 rs776805055	1325	A>T		No	ClinGen ExAC gnomAD
CA9896730 rs550986669	1325	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA409314626 rs1173695117	1329	Q>R		No	ClinGen gnomAD
CA9896726 rs746306065	1332	V>M		No	ClinGen ExAC gnomAD
CA9896724 rs145091620	1334	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777227302 CA9896722	1335	V>A		No	ClinGen ExAC TOPMed gnomAD
CA409314468 rs777227302	1335	V>E		No	ClinGen ExAC TOPMed gnomAD
rs1488076438 CA409314476	1335	V>M		No	ClinGen gnomAD
CA409314433 rs1568793449	1337	T>A		No	ClinGen Ensembl
rs1255868906 CA409314419	1337	T>I		No	ClinGen gnomAD
rs1228800443 CA409314405	1338	F>L		No	ClinGen gnomAD
rs1309855773 CA409314337	1339	S>C		No	ClinGen gnomAD
rs2664521 CA409314283	1340	K>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2664521 VAR_023211 CA9896720	1340	K>E		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2664521 CA409314289	1340	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9896719 rs781247755	1342	L>M		No	ClinGen ExAC TOPMed gnomAD
rs374959294 CA9896718	1344	A>V		No	ClinGen ESP ExAC gnomAD
rs766297342 CA9896716	1347	G>D		No	ClinGen ExAC gnomAD
rs6019331 CA9896714	1349	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150328810 CA9896713	1349	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9896711 rs753145374	1350	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA409313945 rs1190357128	1353	N>D		No	ClinGen TOPMed gnomAD
CA409313939 rs1204612641	1353	N>S		No	ClinGen TOPMed
CA409313895 rs1484694736	1355	E>Q		No	ClinGen gnomAD
CA9896709 rs760052791	1356	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA409313839 rs1196517765	1357	E>K		No	ClinGen TOPMed gnomAD
rs529730656 CA409313777	1358	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9896707 rs562201352	1360	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA315892068 rs973965318	1361	R>C		No	ClinGen TOPMed gnomAD
rs772901459 CA9896706	1361	R>H		No	ClinGen ExAC gnomAD
CA9896705 rs772901459	1361	R>P		No	ClinGen ExAC gnomAD
CA409313713 rs973965318	1361	R>S		No	ClinGen TOPMed gnomAD
rs543805792 CA409313673	1362	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs371681138 CA9896703	1362	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs371681138 CA9896702	1362	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs746973492 COSM377601 CA9896700	1363	A>T	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs779961704 CA9896699	1365	R>C		No	ClinGen ExAC TOPMed gnomAD
rs531950971 CA9896698	1365	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9896697 rs531950971	1365	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9896696 rs778120045	1366	K>N		No	ClinGen ExAC TOPMed gnomAD
CA9896695 rs200774728	1369	E>G		No	ClinGen ExAC gnomAD
CA409313461 rs1166916084	1370	Q>R		No	ClinGen gnomAD
rs927254478 CA315892034	1371	V>L		No	ClinGen TOPMed gnomAD
CA315892035 rs927254478	1371	V>M		No	ClinGen TOPMed gnomAD
rs752767926 COSM3389812 CA9896694	1372	A>V	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA315892026 rs985620283	1374	T>A		No	ClinGen Ensembl
COSM3740155 CA9896693 rs565452515	1374	T>M	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs375868814 CA9896690	1376	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs375868814 CA409313353	1376	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA409313285 rs1353790232	1379	H>R		No	ClinGen gnomAD
rs147832746 CA9896687	1379	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1263104950 CA409313207	1383	L>V		No	ClinGen TOPMed
rs1000398354 CA315891961	1384	L>F		No	ClinGen TOPMed gnomAD
rs1000398354 CA409313190	1384	L>V		No	ClinGen TOPMed gnomAD
CA409313142 rs1337040307	1385	S>L		No	ClinGen gnomAD
rs1445951492 CA409313099	1387	A>T		No	ClinGen gnomAD
rs1395204356 CA409313058	1387	A>V		No	ClinGen TOPMed gnomAD
CA409312267 rs1323742836	1390	K>N		No	ClinGen TOPMed
CA9896658 rs755047814	1392	E>G		No	ClinGen ExAC TOPMed gnomAD
CA9896656 rs201399202 COSM1483714	1393	R>Q	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs747025292 CA9896657	1393	R>W		No	ClinGen ExAC TOPMed gnomAD
rs373770440 CA9896654	1394	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA9896652 rs757617983	1402	T>M		No	ClinGen ExAC TOPMed gnomAD
rs575183821 CA9896650	1403	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA409312056 rs1601030018	1407	D>N		No	ClinGen Ensembl
CA9896649 rs760421597	1408	N>D		No	ClinGen ExAC gnomAD
rs1332693231 CA409312002	1409	V>L		No	ClinGen gnomAD
rs775094642 CA9896648	1412	S>C		No	ClinGen ExAC gnomAD
rs144386235 CA409311755	1417	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9896646 rs759489415	1418	E>G		No	ClinGen ExAC gnomAD
CA9896645 rs774205992	1420	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA9896625 rs186928043	1424	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA409310520 rs1321902633	1424	T>N		No	ClinGen TOPMed
rs769616289 CA9896624	1425	N>S		No	ClinGen ExAC TOPMed gnomAD
rs775745569 CA9896622	1426	V>I		No	ClinGen ExAC gnomAD
rs1601027909 CA409310461	1428	Y>S		No	ClinGen Ensembl
rs772185752 CA9896621	1429	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs745865920 CA409310432	1430	I>F		No	ClinGen ExAC gnomAD
CA9896619 rs200234810	1430	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs745865920 CA9896620	1430	I>V		No	ClinGen ExAC gnomAD
CA315888242 rs1013729539	1434	R>W		No	ClinGen gnomAD
CA409310354 rs201401868	1436	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9896618 rs201401868 COSM1027588	1436	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1489354619 CA409310283	1441	F>L		No	ClinGen gnomAD
CA409310275 rs1601027867	1442	Y>S		No	ClinGen Ensembl
CA9896612 rs754664226	1444	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1286419380 CA409310205	1447	H>R		No	ClinGen gnomAD
CA409310155 rs1238128781	1451	L>M		No	ClinGen gnomAD
rs148509011 CA9896611	1452	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs762767897 CA9896609	1454	R>C		No	ClinGen ExAC gnomAD
rs1365942331 CA409310134	1454	R>H		No	ClinGen gnomAD
CA409310128 rs1345478273	1455	L>R		No	ClinGen gnomAD
rs761661154 CA9896606	1456	E>A		No	ClinGen ExAC TOPMed gnomAD
CA9896607 rs202182429	1456	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1181121845 CA409310106	1459	A>S		No	ClinGen gnomAD
rs1254145691 CA409310098	1460	S>T		No	ClinGen TOPMed
CA409310070 rs1434623462	1464	H>R		No	ClinGen TOPMed gnomAD
rs772124017 CA9896604	1466	A>V		No	ClinGen ExAC TOPMed gnomAD
CA315888184 rs558809203 COSM3389808	1469	T>M	pancreas central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes TOPMed
CA9896577 rs778570818	1475	V>M		No	ClinGen ExAC TOPMed gnomAD
rs373120707 CA9896576	1476	E>K		No	ClinGen ESP ExAC gnomAD
rs1256548925 CA409309903	1477	G>R		No	ClinGen TOPMed gnomAD
rs758047942 CA9896575	1479	P>A		No	ClinGen ExAC gnomAD
CA9896574 rs745322485	1480	S>Y		No	ClinGen ExAC gnomAD
CA9896573 rs778413291 COSM1027585	1481	P>S	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA409309780 rs1246285846	1483	S>I		No	ClinGen gnomAD
rs1409303159 CA409309752	1484	Q>*		No	ClinGen TOPMed
rs1338203114 CA409309730	1484	Q>H		No	ClinGen gnomAD
CA409309750 rs1284787653	1484	Q>R		No	ClinGen TOPMed
CA409309702 rs111654927	1486	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000883570 rs111654927 CA9896570	1486	A>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9896571 COSM1221927 rs111654927	1486	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs755997164 CA9896569	1486	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9896567 rs766643614	1487	E>K		No	ClinGen ExAC gnomAD
rs559776445 CA9896566	1488	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA409309469 rs1272056261	1491	Q>E		No	ClinGen TOPMed
rs1179481612 CA409309372	1492	D>G		No	ClinGen TOPMed gnomAD
rs773377510 CA409309311	1493	I>F		No	ClinGen ExAC TOPMed gnomAD
CA9896565 rs773377510	1493	I>V		No	ClinGen ExAC TOPMed gnomAD
rs762386650 CA9896563 COSM1221923	1495	A>T	large_intestine stomach [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA9896562 rs777253458	1495	A>V		No	ClinGen ExAC gnomAD
CA9896559 rs775728203	1502	Q>H		No	ClinGen ExAC gnomAD
rs1009541551 CA315887951	1502	Q>R		No	ClinGen Ensembl
CA315887950 rs529607221	1503	Q>E		No	ClinGen 1000Genomes
rs771661630 CA9896558	1504	Y>H		No	ClinGen ExAC gnomAD
CA9896557 rs745546650	1506	R>C		No	ClinGen ExAC TOPMed gnomAD
rs778360280 CA9896556	1506	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1451126448 CA409308700	1507	K>R		No	ClinGen TOPMed
CA9896555 rs142955972	1508	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1421504361 CA409308105	1510	A>T		No	ClinGen TOPMed gnomAD
CA315886723 rs200454976	1511	F>L		No	ClinGen 1000Genomes
CA409308092 rs138500849	1512	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138500849 CA9896527	1512	Y>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409308069 rs1414008309	1515	R>L		No	ClinGen gnomAD
CA409308070 COSM1221931 rs1414008309	1515	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs769354842 CA9896526	1515	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1406987493 CA409308065	1516	S>Y		No	ClinGen TOPMed
rs1260389720 CA409308053	1518	L>V		No	ClinGen gnomAD
rs145895841 CA9896525	1520	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs563839257 CA9896523	1523	S>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1568789344 CA409308016	1524	T>A		No	ClinGen Ensembl
rs374942872 CA315886712	1524	T>N		No	ClinGen ESP gnomAD
rs759964904 CA9896522	1525	T>A		No	ClinGen ExAC gnomAD
rs373791469 CA9896521	1525	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs766000213 CA9896520	1526	A>V		No	ClinGen ExAC gnomAD
CA9896518 rs772739610	1527	V>I		No	ClinGen ExAC gnomAD
CA9896517 rs769229639	1529	I>V		No	ClinGen ExAC TOPMed gnomAD
CA9896516 rs748102414	1531	Q>*		No	ClinGen ExAC gnomAD
CA9896487 rs755438398	1533	I>V		No	ClinGen ExAC gnomAD
rs752102307 CA9896486	1534	R>C		No	ClinGen ExAC gnomAD
COSM1713615 rs367573371 CA409307938	1535	P>L	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs367573371 CA9896483	1535	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9896484 rs758754461	1535	P>S		No	ClinGen ExAC gnomAD
rs761579116 CA9896481	1537	N>K		No	ClinGen ExAC gnomAD
rs764738967 CA9896482	1537	N>S		No	ClinGen ExAC gnomAD
CA409307911 rs1447300354	1540	D>Y		No	ClinGen gnomAD
rs763732577 CA9896479	1544	R>C		No	ClinGen ExAC TOPMed gnomAD
rs760664875 COSM1615697 CA9896478	1544	R>H	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA409307883 rs763732577	1544	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1307537184 CA409307870	1546	M>T		No	ClinGen TOPMed
rs775344047 CA9896477	1546	M>V		No	ClinGen ExAC gnomAD
rs373736574 CA315885661	1548	S>Y		No	ClinGen ESP TOPMed gnomAD
CA9896476 rs771899680	1551	H>Y		No	ClinGen ExAC gnomAD
rs143436660 CA9896475	1556	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1457156372 CA409307788	1557	A>G		No	ClinGen TOPMed
rs3936192 VAR_023212 CA9896473	1559	S>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9896472 rs372424372	1561	G>D		No	ClinGen ExAC TOPMed gnomAD
CA9896470 rs138841096	1562	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200532654 CA315885593	1563	G>D		No	ClinGen 1000Genomes
CA9896468 rs147602754	1563	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs750703703 CA9896466	1564	L>F		No	ClinGen ExAC
rs149963401 CA315885576	1568	S>C		No	ClinGen ESP gnomAD
CA315885574 rs976517864	1569	S>L		No	ClinGen TOPMed gnomAD
CA409307660 rs1403735133	1571	L>F		No	ClinGen gnomAD
rs753590144 CA9896462	1574	R>C		No	ClinGen ExAC TOPMed gnomAD
CA409307622 rs1344577513	1577	A>S		No	ClinGen gnomAD
rs1176467213 CA409307579	1582	M>I		No	ClinGen gnomAD
CA409307550 rs1423253467	1587	M>L		No	ClinGen gnomAD
CA9896459 rs116290892	1589	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409306504 rs1601023915	1591	T>P		No	ClinGen Ensembl
rs754576316 CA9896420	1593	S>T		No	ClinGen ExAC gnomAD
rs1459378716 CA409306429	1594	V>M		No	ClinGen TOPMed gnomAD
rs758352753 CA9896417	1597	E>Q		No	ClinGen ExAC gnomAD
rs896539406 CA315884346	1598	Q>H		No	ClinGen Ensembl
CA9896415 rs151257575	1599	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA9896413 rs775836068	1603	A>V		No	ClinGen ExAC gnomAD
CA9896412 rs767487812	1604	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1447178153 COSM478249 CA409306224	1604	R>W	kidney large_intestine central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs759591790 CA9896411	1605	S>G		No	ClinGen ExAC TOPMed gnomAD
CA9896409 rs771519895	1607	G>R		No	ClinGen ExAC gnomAD
CA409306114 rs1456474789	1610	P>L		No	ClinGen gnomAD
rs1442154151 CA409306088	1612	C>W		No	ClinGen gnomAD
rs770244017 CA9896406	1612	C>Y		No	ClinGen ExAC gnomAD
CA409306086 rs1341822021	1613	I>V		No	ClinGen Ensembl
rs1601023809 CA409306076	1614	M>T		No	ClinGen Ensembl
rs747743302 CA9896405	1615	Q>R		No	ClinGen ExAC gnomAD
rs140103506 CA9896404	1617	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA409306020 rs1568787647	1618	D>A		No	ClinGen Ensembl
rs913826166 CA315884269	1620	M>I		No	ClinGen Ensembl
CA315884277 rs900009445	1620	M>L		No	ClinGen TOPMed
rs1601023508 CA409305765	1627	V>G		No	ClinGen Ensembl
rs745797765 CA9896381	1629	I>N		No	ClinGen ExAC gnomAD
rs1043502753 CA315884028	1632	K>E		No	ClinGen Ensembl
rs945222268 CA315884023	1635	R>Q		No	ClinGen TOPMed gnomAD
CA9896379 rs757152407	1639	Q>R		No	ClinGen ExAC gnomAD
CA9896378 rs559716246	1642	Q>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA409305481 rs559716246	1642	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA409305445 rs1174797284	1643	G>V		No	ClinGen gnomAD
CA9896377 rs777462728	1644	A>G		No	ClinGen ExAC gnomAD
rs1193708103 CA409305391	1646	R>C		No	ClinGen gnomAD
CA409305389 rs1478523936	1646	R>H		No	ClinGen TOPMed gnomAD
CA9896353 rs201405268	1649	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA409304865 COSM419357 rs1302009672	1649	R>H	urinary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1352438827 CA409304842	1652	Q>H		No	ClinGen gnomAD
CA409304836 rs1382941519	1653	P>L		No	ClinGen TOPMed
rs764437710 CA9896350	1654	P>A		No	ClinGen ExAC gnomAD
CA315882905 COSM172675 rs1000110812	1654	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA409304826 rs1281751235	1655	V>E		No	ClinGen TOPMed
CA409304830 rs1227748648	1655	V>M		No	ClinGen TOPMed
rs1444008310 CA409304820	1656	D>G		No	ClinGen TOPMed gnomAD
CA409304819 rs1444008310	1656	D>V		No	ClinGen TOPMed gnomAD
CA315882900 rs890684761	1658	D>G		No	ClinGen gnomAD
rs1380672534 CA409304808	1658	D>N		No	ClinGen TOPMed gnomAD

No associated diseases with Q8TCU6

10 regional properties for Q8TCU6

Type	Name	Position	InterPro Accession
domain	SH3 domain	536 - 606	IPR001452
domain	PDZ domain	98 - 185	IPR001478-1
domain	PDZ domain	191 - 280	IPR001478-2
domain	PDZ domain	419 - 502	IPR001478-3
domain	Guanylate kinase-like domain	662 - 837	IPR008144
domain	Guanylate kinase/L-type calcium channel beta subunit	661 - 840	IPR008145
domain	Disks large homolog 1-4, PDZ-associated domain	278 - 345	IPR019583
domain	Disks large homologue 1, N-terminal PEST domain	14 - 97	IPR019590
conserved_site	Guanylate kinase, conserved site	694 - 711	IPR020590
domain	Disks Large homologue 2, SH3 domain	534 - 607	IPR035759

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytosol Cell membrane	Mainly cytosolic Some amount is apparently associated to the plasma membrane
PANTHER Family	PTHR22829	DEP DOMAIN PROTEIN
PANTHER Subfamily	PTHR22829:SF6	PHOSPHATIDYLINOSITOL 3,4,5-TRISPHOSPHATE-DEPENDENT RAC EXCHANGER 1 PROTEIN
PANTHER Protein Class	guanyl-nucleotide exchange factor G-protein modulator
PANTHER Pathway Category	Inflammation mediated by chemokine and cytokine signaling pathway GEF

2 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

4 GO annotations of molecular function

Name	Definition
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
GTPase activator activity	Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.
guanyl-nucleotide exchange factor activity	Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions.
phospholipid binding	Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester.

10 GO annotations of biological process

Name	Definition
actin filament polymerization	Assembly of actin filaments by the addition of actin monomers to a filament.
G protein-coupled receptor signaling pathway	The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane.
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.
neutrophil activation	The change in morphology and behavior of a neutrophil resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor.
neutrophil chemotaxis	The directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding.
positive regulation of GTPase activity	Any process that activates or increases the activity of a GTPase.
positive regulation of substrate adhesion-dependent cell spreading	Any process that activates or increases the frequency, rate or extent of substrate adhesion-dependent cell spreading.
regulation of small GTPase mediated signal transduction	Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.
superoxide metabolic process	The chemical reactions and pathways involving superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species.
T cell differentiation	The process in which a precursor cell type acquires characteristics of a more mature T-cell. A T cell is a type of lymphocyte whose definin characteristic is the expression of a T cell receptor complex.

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q58DL7	ARHGEF9	Rho guanine nucleotide exchange factor 9	Bos taurus (Bovine)	SS
O43307	ARHGEF9	Rho guanine nucleotide exchange factor 9	Homo sapiens (Human)	SS
Q6XZF7	DNMBP	Dynamin-binding protein	Homo sapiens (Human)	PR
Q9NR80	ARHGEF4	Rho guanine nucleotide exchange factor 4	Homo sapiens (Human)	EV
A1IGU5	ARHGEF37	Rho guanine nucleotide exchange factor 37	Homo sapiens (Human)	PR
Q96N96	SPATA13	Spermatogenesis-associated protein 13	Homo sapiens (Human)	EV
Q70Z35	PREX2	Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein	Homo sapiens (Human)	SS
Q5DU57	Spata13	Spermatogenesis-associated protein 13	Mus musculus (Mouse)	SS
Q7TNR9	Arhgef4	Rho guanine nucleotide exchange factor 4	Mus musculus (Mouse)	EV
Q3UTH8	Arhgef9	Rho guanine nucleotide exchange factor 9	Mus musculus (Mouse)	SS
Q3LAC4	Prex2	Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein	Mus musculus (Mouse)	SS
Q69ZK0	Prex1	Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein	Mus musculus (Mouse)	SS

10	20	30	40	50	60
MEAPSGSEPG	GDGAGDCAHP	DPRAPGAAAP	SSGPGPCAAA	RESERQLRLR	LCVLNEILGT
70	80	90	100	110	120
ERDYVGTLRF	LQSAFLHRIR	QNVADSVEKG	LTEENVKVLF	SNIEDILEVH	KDFLAALEYC
130	140	150	160	170	180
LHPEPQSQHE	LGNVFLKFKD	KFCVYEEYCS	NHEKALRLLV	ELNKIPTVRA	FLLSCMLLGG
190	200	210	220	230	240
RKTTDIPLEG	YLLSPIQRIC	KYPLLLKELA	KRTPGKHPDH	PAVQSALQAM	KTVCSNINET
250	260	270	280	290	300
KRQMEKLEAL	EQLQSHIEGW	EGSNLTDICT	QLLLQGTLLK	ISAGNIQERA	FFLFDNLLVY
310	320	330	340	350	360
CKRKSRVTGS	KKSTKRTKSI	NGSLYIFRGR	INTEVMEVEN	VEDGTADYHS	NGYTVTNGWK
370	380	390	400	410	420
IHNTAKNKWF	VCMAKTAEEK	QKWLDAIIRE	REQRESLKLG	MERDAYVMIA	EKGEKLYHMM
430	440	450	460	470	480
MNKKVNLIKD	RRRKLSTVPK	CFLGNEFVAW	LLEIGEISKT	EEGVNLGQAL	LENGIIHHVS
490	500	510	520	530	540
DKHQFKNEQV	MYRFRYDDGT	YKARSELEDI	MSKGVRLYCR	LHSLYTPVIK	DRDYHLKTYK
550	560	570	580	590	600
SVLPGSKLVD	WLLAQGDCQT	REEAVALGVG	LCNNGFMHHV	LEKSEFRDES	QYFRFHADEE
610	620	630	640	650	660
MEGTSSKNKQ	LRNDFKLVEN	ILAKRLLILP	QEEDYGFDIE	EKNKAVVVKS	VQRGSLAEVA
670	680	690	700	710	720
GLQVGRKIYS	INEDLVFLRP	FSEVESILNQ	SFCSRRPLRL	LVATKAKEII	KIPDQPDTLC
730	740	750	760	770	780
FQIRGAAPPY	VYAVGRGSEA	MAAGLCAGQC	ILKVNGSNVM	NDGAPEVLEH	FQAFRSRREE
790	800	810	820	830	840
ALGLYQWIYH	THEDAQEARA	SQEASTEDPS	GEQAQEEDQA	DSAFPLLSLG	PRLSLCEDSP
850	860	870	880	890	900
MVTLTVDNVH	LEHGVVYEYV	STAGVRCHVL	EKIVEPRGCF	GLTAKILEAF	AANDSVFVEN
910	920	930	940	950	960
CRRLMALSSA	IVTMPHFEFR	NICDTKLESI	GQRIACYQEF	AAQLKSRVSP	PFKQAPLEPH
970	980	990	1000	1010	1020
PLCGLDFCPT	NCHINLMEVS	YPKTTPSVGR	SFSIRFGRKP	SLIGLDPEQG	HLNPMSYTQH
1030	1040	1050	1060	1070	1080
CITTMAAPSW	KCLPAAEGDP	QGQGLHDGSF	GPASGTLGQE	DRGLSFLLKQ	EDREIQDAYL
1090	1100	1110	1120	1130	1140
QLFTKLDVAL	KEMKQYVTQI	NRLLSTITEP	TSGGSCDASL	AEEASSLPLV	SEESEMDRSD
1150	1160	1170	1180	1190	1200
HGGIKKVCFK	VAEEDQEDSG	HDTMSYRDSY	SECNSNRDSV	LSYTSVRSNS	SYLGSDEMGS
1210	1220	1230	1240	1250	1260
GDELPCDMRI	PSDKQDKLHG	CLEHLFNQVD	SINALLKGPV	MSRAFEETKH	FPMNHSLQEF
1270	1280	1290	1300	1310	1320
KQKEECTIRG	RSLIQISIQE	DPWNLPNSIK	TLVDNIQRYV	EDGKNQLLLA	LLKCTDTELQ
1330	1340	1350	1360	1370	1380
LRRDAIFCQA	LVAAVCTFSK	QLLAALGYRY	NNNGEYEESS	RDASRKWLEQ	VAATGVLLHC
1390	1400	1410	1420	1430	1440
QSLLSPATVK	EERTMLEDIW	VTLSELDNVT	FSFKQLDENY	VANTNVFYHI	EGSRQALKVI
1450	1460	1470	1480	1490	1500
FYLDSYHFSK	LPSRLEGGAS	LRLHTALFTK	VLENVEGLPS	PGSQAAEDLQ	QDINAQSLEK
1510	1520	1530	1540	1550	1560
VQQYYRKLRA	FYLERSNLPT	DASTTAVKID	QLIRPINALD	ELCRLMKSFV	HPKPGAAGSV
1570	1580	1590	1600	1610	1620
GAGLIPISSE	LCYRLGACQM	VMCGTGMQRS	TLSVSLEQAA	ILARSHGLLP	KCIMQATDIM
1630	1640	1650
RKQGPRVEIL	AKNLRVKDQM	PQGAPRLYRL	CQPPVDGDL