AiPD: Autoinhibited Protein Database

Q9UIW2

EV SS

Gene name	PLXNA1 (NOV, PLXN1)
Protein name	Plexin-A1
Names	Semaphorin receptor NOV
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5361
EC number
Protein Class	PLEXIN (PTHR22625)

Descriptions

PlexA1 (NOV, PLXN1) plays a role in axon guidance, invasive growth and cell migration. Sema domain of PlexA1 restricts PlexA1 to a basal inactive state by binding to the remainder of the ectodomain. Deletion analysis of the PlexinA1 ectodomain demonstrates that the sema domain prevents PlexinA1 activation in the basal state. Sema-deleted PlexinA1 is constitutively active, producing cell contraction, growth cone collapse, and inhibition of neurite outgrowth. Plexin A1 is autoinhibited by its sema domain, and Sema3A/NP1 releases this inhibition. According to mouse Plexin-A3 (P70208), Plexin may possess a segment preceding C1 domain and an RDB domain as autoinhibitory elements.

Autoinhibitory domains (AIDs)

Target domain	1318-1866 (Plexin, cytoplasmic RasGAP domain)
Relief mechanism	Partner binding
Assay	Deletion assay

AID

27-512 (Sema domain)

Target domain

1318-1866 (Plexin, cytoplasmic RasGAP domain)

Relief mechanism

Partner binding (Semaphorin-induced dimerization)

Assay

Deletion assay

1245-1317 (Segment preceding C1 domain) SS

Target domain	1318-1866 (Plexin, cytoplasmic RasGAP domain)
Relief mechanism
Assay

AID

1245-1317 (Segment preceding C1 domain)

Target domain

1318-1866 (Plexin, cytoplasmic RasGAP domain)

Relief mechanism

Assay

1488-1600 (RBD domain) SS

Target domain	1318-1866 (Plexin, cytoplasmic RasGAP domain)
Relief mechanism	Partner binding
Assay

AID

1488-1600 (RBD domain)

Target domain

1318-1866 (Plexin, cytoplasmic RasGAP domain)

Relief mechanism

Partner binding (Binding of Rho-family GTPase (Rac1 or Rnd1) in their GTP-bound active form to the RBD)

Assay

Accessory elements

No accessory elements

References

Takahashi T et al. (2001) "Plexina1 autoinhibition by the plexin sema domain", Neuron, 29, 429-39

He H et al. (2009) "Crystal structure of the plexin A3 intracellular region reveals an autoinhibited conformation through active site sequestration", Proceedings of the National Academy of Sciences of the United States of America, 106, 15610-5

Wang Y et al. (2012) "Plexins are GTPase-activating proteins for Rap and are activated by induced dimerization", Science signaling, 5, ra6

Autoinhibited structure

Activated structure

3 structures for Q9UIW2

Entry ID	Method	Resolution	Chain	Position	Source
7Y4P	X-ray	350 A	A	27-708	PDB
7Y4Q	X-ray	470 A	A/B	27-708	PDB
AF-Q9UIW2-F1	Predicted				AlphaFoldDB

1417 variants for Q9UIW2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001263336 rs576960383 CA83277646	2	P>Q	Intellectual disability [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA2592941 rs749105753 RCV001172466	77	N>K	Neurodevelopmental disorder [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001172472 rs371434286 CA354376145	453	R>*	Neurodevelopmental disorder [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001172463 CA354379405 rs1204647586	517	Q>*	Neurodevelopmental disorder [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs2079056783 RCV001172462	525	L>missing	Neurodevelopmental disorder [ClinVar]	Yes	ClinVar dbSNP
RCV001172464 rs2079109807	816	C>R	Neurodevelopmental disorder [ClinVar]	Yes	ClinVar dbSNP
RCV001172465 CA2593714 rs762983679	881	R>W	Neurodevelopmental disorder [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs774624923 RCV001172467 CA2593733	901	R>H	Neurodevelopmental disorder [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001172471 rs375833812 CA2594070	1185	R>Q	Neurodevelopmental disorder [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs2079185551 RCV001172470	1495	R>W	Neurodevelopmental disorder [ClinVar]	Yes	ClinVar dbSNP
rs2079215968 RCV001172468	1748	R>C	Neurodevelopmental disorder [ClinVar]	Yes	ClinVar dbSNP
RCV001172469 CA2594745 rs149124469	1878	R>W	Neurodevelopmental disorder [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs576960383 CA2592871	2	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs72957093 CA2592873	5	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs574438166 CA83277687	6	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760922596 CA2592876	6	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs574438166 CA2592875	6	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs375859367 RCV000958705 CA2592877	7	S>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs375859367 CA354368741	7	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1178379872 CA354368779	9	Q>H		No	ClinGen gnomAD
CA2592880 rs759565246	11	L>F		No	ClinGen ExAC TOPMed gnomAD
rs759565246 CA2592879	11	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1480292546 CA354368817	12	L>M		No	ClinGen TOPMed
CA354368874 rs1298726977	16	L>P		No	ClinGen gnomAD
CA2592889 rs763532284	19	L>P		No	ClinGen ExAC gnomAD
rs575182895 CA2592891	20	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA2592890 rs751267139	20	L>V		No	ClinGen ExAC gnomAD
CA83277838 rs1023386198	22	P>L		No	ClinGen TOPMed gnomAD
rs1023386198 CA354368961	22	P>Q		No	ClinGen TOPMed gnomAD
rs961102943 CA83277872	24	M>T		No	ClinGen TOPMed
CA2592894 rs755323587	24	M>V		No	ClinGen ExAC gnomAD
rs1487822170 CA354369109	28	A>T		No	ClinGen gnomAD
CA83277873 rs752935886	28	A>V		No	ClinGen gnomAD
rs779320185 CA354369935	29	G>A		No	ClinGen ExAC TOPMed gnomAD
rs779320185 CA354369936	29	G>D		No	ClinGen ExAC TOPMed gnomAD
rs779320185 CA2592895	29	G>V		No	ClinGen ExAC TOPMed gnomAD
rs919608264 CA83277890	31	P>R		No	ClinGen TOPMed gnomAD
rs1576667161 CA354369962	33	A>T		No	ClinGen Ensembl
rs748623705 CA2592896	33	A>V		No	ClinGen ExAC TOPMed gnomAD
CA2592897 rs772292561	34	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1471847661 CA354369969	34	G>V		No	ClinGen TOPMed
CA2592900 rs747274300	35	G>R		No	ClinGen ExAC TOPMed gnomAD
CA2592899 rs747274300	35	G>W		No	ClinGen ExAC TOPMed gnomAD
CA354369978 rs759277697	36	G>D		No	ClinGen ExAC TOPMed gnomAD
rs776863059 CA2592901	36	G>R		No	ClinGen ExAC gnomAD
CA2592902 rs759277697	36	G>V		No	ClinGen ExAC TOPMed gnomAD
CA354369993 rs1559952377	38	Q>H		No	ClinGen Ensembl
CA2592907 rs140411089	39	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA2592905 rs140411089	39	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs140411089 CA2592906	39	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs372314843 CA2592909	40	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs528513486 CA2592911	40	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs528513486 CA354369998	40	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2592910 rs528513486	40	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2592908 rs372314843	40	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1320370839 CA354370000	41	F>L		No	ClinGen gnomAD
CA2592913 rs370823812	42	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA354370009 rs1480345383	42	R>H		No	ClinGen gnomAD
CA2592914 rs753202965	43	T>A		No	ClinGen ExAC TOPMed gnomAD
rs546942473 CA354370015	43	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs546942473 CA2592915	43	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778047319 CA2592916	45	S>L		No	ClinGen ExAC TOPMed gnomAD
rs778047319 CA354370028	45	S>W		No	ClinGen ExAC TOPMed gnomAD
rs146428172 CA2592918	46	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA354370035 rs1403480484	47	S>G		No	ClinGen gnomAD
CA2592921 rs764260543	48	D>H		No	ClinGen ExAC TOPMed gnomAD
CA2592920 rs764260543	48	D>N		No	ClinGen ExAC TOPMed gnomAD
CA2592922 rs775347526	50	G>D		No	ClinGen ExAC gnomAD
CA2592923 rs762922365	51	L>F		No	ClinGen ExAC gnomAD
CA354370077 rs1164289412	53	H>L		No	ClinGen TOPMed
rs774226635 CA2592925	55	V>A		No	ClinGen ExAC gnomAD
CA83278079 rs374589633	57	H>R		No	ClinGen ESP
rs1016498364 CA83278083	60	T>K		No	ClinGen TOPMed gnomAD
CA354370131 rs1196769968	62	E>K		No	ClinGen TOPMed gnomAD
rs1576667278 CA354370142	63	V>G		No	ClinGen Ensembl
rs760362109 CA2592930	63	V>L		No	ClinGen ExAC TOPMed gnomAD
CA354370166 rs1267808753	66	G>A		No	ClinGen TOPMed
CA2592933 rs758784183	66	G>S		No	ClinGen ExAC gnomAD
rs376514048 CA2592935	67	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs376514048 CA83278133	67	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2592936 rs757422870	70	R>C		No	ClinGen ExAC gnomAD
rs781314129 CA2592937	73	K>E		No	ClinGen ExAC gnomAD
rs1026473086 CA83278153	75	S>L		No	ClinGen gnomAD
CA354370284 rs552129981	76	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA2592939 rs552129981	76	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA2592940 rs779766532	77	N>H		No	ClinGen ExAC TOPMed gnomAD
CA2592942 rs749105753	77	N>K		No	ClinGen ExAC gnomAD
CA2592943 rs774277981	79	T>I		No	ClinGen ExAC gnomAD
CA354370343 rs867079721	82	R>G		No	ClinGen TOPMed gnomAD
rs1318681898 CA354370346	82	R>Q		No	ClinGen TOPMed gnomAD
CA83278241 rs867079721	82	R>W		No	ClinGen TOPMed gnomAD
CA354370352 rs1200012272	83	A>T		No	ClinGen gnomAD
rs1444396586 CA354370376	85	V>I		No	ClinGen TOPMed gnomAD
rs772775949 CA2592946	86	T>M		No	ClinGen ExAC TOPMed gnomAD
rs766078343 CA2592948	90	E>D		No	ClinGen ExAC gnomAD
rs369468564 CA2592949	91	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1477842948 CA354370459	92	N>D		No	ClinGen gnomAD
rs764493150 CA2592951	93	E>K		No	ClinGen ExAC gnomAD
rs752167968 CA2592952	94	K>Q		No	ClinGen ExAC gnomAD
rs889700794 CA83278275	96	Y>H		No	ClinGen TOPMed
CA2592953 rs757773826	97	P>L		No	ClinGen ExAC gnomAD
CA2592955 rs750497297	98	P>L		No	ClinGen ExAC gnomAD
CA2592958 rs749448584	100	S>G		No	ClinGen ExAC TOPMed gnomAD
CA354370587 rs149025881	100	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1347349953 CA354370590	101	V>M		No	ClinGen TOPMed gnomAD
rs1285643605 CA354370615	103	S>T		No	ClinGen TOPMed gnomAD
CA2592960 rs778668805	103	S>Y		No	ClinGen ExAC gnomAD
CA354370628 rs1265215485	104	C>Y		No	ClinGen gnomAD
rs1197499434 CA354370634	105	P>H		No	ClinGen gnomAD
rs1197499434 CA354370636	105	P>L		No	ClinGen gnomAD
rs746561118 CA2592964	106	H>D		No	ClinGen ExAC gnomAD
rs143094550 CA2592966	107	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1379373942 CA354370662	109	G>D		No	ClinGen gnomAD
rs151164953 CA83278391	110	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs151164953 CA2592968	110	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2592967 rs759247232	110	S>R		No	ClinGen ExAC gnomAD
rs774822716 CA2592969	111	T>I		No	ClinGen ExAC gnomAD
CA354370714 rs1576667464	113	N>S		No	ClinGen Ensembl
rs762279605 CA2592970	114	V>I		No	ClinGen ExAC gnomAD
CA2592971 rs768094739	115	N>S		No	ClinGen ExAC gnomAD
CA2592973 rs367975178	124	A>T		No	ClinGen ExAC gnomAD
CA2592975 rs556625265	126	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs952358813 COSM1418671 CA83278431	126	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1193792071 CA354370900	129	A>V		No	ClinGen gnomAD
rs370537728 CA83278435	130	C>*		No	ClinGen ESP
rs755191074 CA354370942	132	S>R		No	ClinGen ExAC TOPMed gnomAD
rs575140971 CA2592977	133	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354371038 rs777769843	140	F>L		No	ClinGen ExAC TOPMed gnomAD
CA354371055 COSM1239871 rs1393602813	142	R>C	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
rs770528389 CA2592982	142	R>P		No	ClinGen ExAC gnomAD
rs1374866737 CA354371133	148	K>R		No	ClinGen gnomAD
rs769546418 CA2592985	150	G>A		No	ClinGen ExAC TOPMed gnomAD
CA354371192 rs1559952585	155	R>C		No	ClinGen Ensembl
CA354371205 rs1243844299	155	R>H		No	ClinGen gnomAD
rs370552319 COSM332002 CA83278535	163	V>L	lung [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
rs370552319 CA83278530	163	V>M		No	ClinGen ESP TOPMed gnomAD
rs1200163670 CA354371308	164	Q>R		No	ClinGen gnomAD
rs1423597182 CA354371344	167	G>A		No	ClinGen gnomAD
CA354371340 rs1250853193	167	G>S		No	ClinGen gnomAD
CA354371359 rs1185944563	169	M>V		No	ClinGen gnomAD
rs150244244 CA2592987	170	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2592988 rs376022321	171	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1576667626 CA354371403	172	V>G		No	ClinGen Ensembl
CA2592990 rs545580360	172	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1576667630 CA354371411	173	L>V		No	ClinGen Ensembl
rs978150723 CA83278576	174	I>F		No	ClinGen TOPMed
rs925369377 CA83278580	175	A>V		No	ClinGen TOPMed
CA2592992 rs564057481	176	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs372267530 CA2592993 COSM3427004	178	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA354371471 rs1359848712	179	G>A		No	ClinGen TOPMed
rs956540404 CA354371479	180	Q>H		No	ClinGen TOPMed
CA83278600 rs956540404	180	Q>H		No	ClinGen TOPMed
rs200092438 CA2592995	181	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA354371516 rs1315502060	183	A>G		No	ClinGen gnomAD
CA2592996 rs758225506	186	F>L		No	ClinGen ExAC gnomAD
CA354371555 rs1199026244	187	V>M		No	ClinGen TOPMed gnomAD
rs866390061 CA83278611	188	G>D		No	ClinGen Ensembl
rs1401611777 CA354371581	190	P>A		No	ClinGen TOPMed gnomAD
rs1478840803 CA354371615	192	D>G		No	ClinGen gnomAD
CA2593000 rs757660956	192	D>N		No	ClinGen ExAC gnomAD
rs371691614 CA2593002	194	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1460597002 CA354371662	196	E>K		No	ClinGen TOPMed
CA2593004 rs748837554	198	F>L		No	ClinGen ExAC gnomAD
CA354371735 rs1415218034	201	L>P		No	ClinGen gnomAD
CA354371769 rs1338418265	204	R>C		No	ClinGen gnomAD
CA2593006 rs147104661	205	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs147104661 CA2593005	205	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1576667727 CA354371778	205	R>W		No	ClinGen Ensembl
CA2593007 rs761287603	206	L>P		No	ClinGen ExAC gnomAD
rs761287603 CA83278686	206	L>R		No	ClinGen ExAC gnomAD
rs376263936 CA2593008	207	M>K		No	ClinGen ESP ExAC
rs939000109 CA83278691	207	M>L		No	ClinGen gnomAD
rs939000109 CA354371792	207	M>L		No	ClinGen gnomAD
CA354371820 rs1257444296	209	N>H		No	ClinGen gnomAD
CA354371827 rs1349011355	209	N>S		No	ClinGen gnomAD
CA2593011 rs765242147	211	E>D		No	ClinGen ExAC gnomAD
CA354371879 rs1187112713	212	D>E		No	ClinGen gnomAD
CA354371868 rs1379909923	212	D>N		No	ClinGen TOPMed
rs1266797664 CA354371883	213	A>T		No	ClinGen gnomAD
CA2593013 COSM1221247 rs200971189	214	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs763985958 CA2593014	214	D>V		No	ClinGen ExAC TOPMed gnomAD
CA2593016 rs562074359	215	M>T		No	ClinGen 1000Genomes ExAC
rs751288352 CA2593015	215	M>V		No	ClinGen ExAC gnomAD
CA83278775 rs1005095733	216	F>C		No	ClinGen Ensembl
rs755703199 CA2593019	217	G>D		No	ClinGen ExAC gnomAD
CA2593018 rs529263070	217	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2593021 rs749036813	219	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2593022 rs754556730	220	Y>H		No	ClinGen ExAC gnomAD
CA354372060 rs1487025929	230	K>R		No	ClinGen TOPMed
CA354372065 rs1356417787	231	I>V		No	ClinGen gnomAD
rs371408874 CA2593025	233	S>L		No	ClinGen ESP ExAC gnomAD
rs1559952796 CA354372105	237	S>C		No	ClinGen Ensembl
CA354372108 rs1253805573	238	K>E		No	ClinGen TOPMed gnomAD
rs1439327711 CA354372128	240	P>L		No	ClinGen TOPMed gnomAD
CA2593030 rs373015226	245	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs767366389 CA2593034	251	R>C		No	ClinGen ExAC gnomAD
CA2593036 rs750446640	251	R>H		No	ClinGen ExAC TOPMed gnomAD
rs750446640 CA2593035	251	R>L		No	ClinGen ExAC TOPMed gnomAD
rs765955097 CA2593037	252	S>G		No	ClinGen ExAC gnomAD
CA354372211 rs183781017	252	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA83278946 rs372137045	253	E>*		No	ClinGen TOPMed gnomAD
CA83278947 rs966890018	253	E>A		No	ClinGen TOPMed gnomAD
CA83278941 rs372137045	253	E>K		No	ClinGen TOPMed gnomAD
rs372137045 CA354372213	253	E>Q		No	ClinGen TOPMed gnomAD
rs377085532 CA83278981	257	Y>C		No	ClinGen Ensembl
rs1576667838 CA354372252	258	Y>S		No	ClinGen Ensembl
rs1301262117 CA354372256	259	L>V		No	ClinGen TOPMed
rs201617251 CA83279010	260	T>M		No	ClinGen TOPMed gnomAD
CA2593042 rs757676139	262	Q>*		No	ClinGen ExAC gnomAD
CA2593043 rs781531297	262	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs776013878 CA2593046	263	L>P		No	ClinGen ExAC gnomAD
rs770174244 CA354372278	263	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1177629114 CA354372284	264	D>A		No	ClinGen gnomAD
CA2593047 rs749355498	268	T>I		No	ClinGen ExAC gnomAD
CA354372310 rs1576667881	268	T>P		No	ClinGen Ensembl
CA2593048 rs148743487	269	S>L		No	ClinGen ESP ExAC gnomAD
CA354372323 rs1394609958	270	P>L		No	ClinGen gnomAD
CA354372324 rs1328831293	271	D>N		No	ClinGen gnomAD
rs773111448 CA2593052	273	A>T		No	ClinGen ExAC gnomAD
rs1220935415 CA354372342	273	A>V		No	ClinGen TOPMed
CA2593053 rs369940054	274	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2593055 rs753771351	275	E>K		No	ClinGen ExAC gnomAD
rs764788795 CA2593057	278	F>L		No	ClinGen ExAC gnomAD
rs752412740 CA2593058	279	T>M		No	ClinGen ExAC TOPMed gnomAD
CA354372396 rs1369503333	281	K>N		No	ClinGen TOPMed
CA2593062 rs756459337	283	V>M		No	ClinGen ExAC gnomAD
CA2593063 rs780432922	284	R>W		No	ClinGen ExAC
rs749748554 CA2593066	287	V>L		No	ClinGen ExAC gnomAD
rs749748554 CA2593065	287	V>M		No	ClinGen ExAC gnomAD
rs1040983961 CA83279246	288	D>H		No	ClinGen TOPMed
rs748421057 CA2593068	291	K>Q		No	ClinGen ExAC gnomAD
rs1576667966 CA354372470	293	Y>S		No	ClinGen Ensembl
CA354372478 rs1477206158	294	S>L		No	ClinGen TOPMed gnomAD
rs202007314 CA2593071	296	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2593075 rs188665900	300	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762397558 CA2593077	304	Q>R		No	ClinGen ExAC gnomAD
CA354372612 rs1340271054	305	A>E		No	ClinGen gnomAD
CA354372605 rs1272003917	305	A>T		No	ClinGen gnomAD
CA354372614 rs1340271054	305	A>V		No	ClinGen gnomAD
CA354372617 rs932141090	306	G>R		No	ClinGen TOPMed
rs932141090 CA83279339	306	G>S		No	ClinGen TOPMed
CA354372620 rs1211113390	306	G>V		No	ClinGen TOPMed
CA354372639 rs1276830888	308	E>K		No	ClinGen gnomAD
CA2593080 rs778885164	310	R>C		No	ClinGen ExAC TOPMed gnomAD
rs780455982 CA354372682	310	R>H		No	ClinGen ExAC gnomAD
CA2593081 rs780455982	310	R>L		No	ClinGen ExAC gnomAD
CA354372711 rs1576668026	312	V>G		No	ClinGen Ensembl
CA83279398 rs890710874	314	D>G		No	ClinGen Ensembl
CA354372730 rs1559953008	314	D>N		No	ClinGen Ensembl
rs1576668048 CA354372765	316	Y>S		No	ClinGen Ensembl
rs377693045 CA2593087	319	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA83279410 rs374901417	319	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1174672021 CA354372848	320	P>L		No	ClinGen gnomAD
rs1303010645 CA354372842	320	P>S		No	ClinGen TOPMed
CA2593090 rs148851222	321	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs759440943 CA2593091	322	R>C		No	ClinGen ExAC TOPMed gnomAD
rs759440943 CA2593092	322	R>G		No	ClinGen ExAC TOPMed gnomAD
rs146946538 CA2593093	322	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA354372904 rs1373536070	325	A>V		No	ClinGen gnomAD
rs768273178 CA2593098	326	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs754208943 CA2593099	329	G>C		No	ClinGen ExAC gnomAD
rs1203295112 CA354372962	329	G>V		No	ClinGen gnomAD
CA354372986 rs1321391936	331	A>S		No	ClinGen gnomAD
rs1559953051 CA354373020	333	D>G		No	ClinGen Ensembl
rs368337511 CA354373033	334	E>K		No	ClinGen ESP TOPMed gnomAD
rs368337511 CA83279497	334	E>Q		No	ClinGen ESP TOPMed gnomAD
CA2593102 rs556663930	336	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2593103 rs758606291	338	F>L		No	ClinGen ExAC gnomAD
CA354373129 rs1418308024	338	F>L		No	ClinGen gnomAD
CA2593106 rs757478862	340	V>M		No	ClinGen ExAC gnomAD
rs1396875238 CA354373204	342	A>S		No	ClinGen gnomAD
CA354373199 rs1396875238	342	A>T		No	ClinGen gnomAD
rs1441949995 CA354373207	342	A>V		No	ClinGen gnomAD
rs775416730 CA354373252	344	G>D		No	ClinGen ExAC gnomAD
rs775416730 CA2593110	344	G>V		No	ClinGen ExAC gnomAD
rs371310828 CA2593111	348	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs918532894 CA83279592	349	V>A		No	ClinGen TOPMed gnomAD
rs41266465 CA2593113	349	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs41266465 CA354373335	349	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA354373360 rs1469491745	351	P>L		No	ClinGen gnomAD
CA83279599 rs929898297	354	E>Q		No	ClinGen TOPMed
CA354373456 rs1559953102	357	L>V		No	ClinGen Ensembl
rs767221711 CA2593115	361	T>M		No	ClinGen ExAC gnomAD
CA2593117 rs759984493	362	L>V		No	ClinGen ExAC gnomAD
rs1161490786 CA354373578	363	R>T		No	ClinGen gnomAD
rs770056207 CA2593118	365	I>V		No	ClinGen ExAC gnomAD
rs1576668208 CA354373617	366	K>E		No	ClinGen Ensembl
CA83279656 rs909727502	367	E>V		No	ClinGen TOPMed
rs1330933145 CA354373689	369	I>V		No	ClinGen gnomAD
CA354373703 rs1398456172	370	K>*		No	ClinGen gnomAD
CA354373742 rs1255444549	371	E>A		No	ClinGen gnomAD
rs1330646450 CA354373754	372	R>C		No	ClinGen gnomAD
CA354373759 RCV001254992 rs1336240753	372	R>H		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA354373832 rs1465139388	376	C>R		No	ClinGen TOPMed
rs764128475 CA2593122	378	R>C		No	ClinGen ExAC gnomAD
CA2593123 rs777098784	378	R>H		No	ClinGen ExAC gnomAD
CA83279690 rs777098784	378	R>L		No	ClinGen ExAC gnomAD
CA354373897 rs1233437563	380	E>D		No	ClinGen gnomAD
CA354373913 rs1257009490	381	G>D		No	ClinGen gnomAD
rs757240234 CA2593124	382	K>E		No	ClinGen ExAC gnomAD
CA354373921 rs1197853642	382	K>T		No	ClinGen gnomAD
rs1442259790 CA354373967	384	S>F		No	ClinGen gnomAD
CA354373959 rs1251725920	384	S>P		No	ClinGen gnomAD
CA354373963 rs1442259790	384	S>Y		No	ClinGen gnomAD
rs1203235747 CA354373972	385	L>V		No	ClinGen TOPMed
CA354374005 rs908191042	386	P>L		No	ClinGen TOPMed gnomAD
CA83279710 rs908191042	386	P>R		No	ClinGen TOPMed gnomAD
CA2593128 rs779822527	390	N>S		No	ClinGen ExAC gnomAD
rs1463752189 CA354374125	392	E>D		No	ClinGen gnomAD
CA354374170 rs1395279424	396	I>V		No	ClinGen gnomAD
CA83279731 rs768562501	397	N>S		No	ClinGen ExAC TOPMed gnomAD
CA2593130 rs768562501	397	N>T		No	ClinGen ExAC TOPMed gnomAD
rs747725820 CA2593132	398	S>L		No	ClinGen ExAC gnomAD
CA2593154 rs770726838	400	L>V		No	ClinGen ExAC
rs1452810069 CA354375138	402	I>V		No	ClinGen gnomAD
CA2593157 rs372990520	403	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2593156 rs372990520	403	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762224493 CA2593159	405	D>N		No	ClinGen ExAC TOPMed gnomAD
CA354375206 rs762224493	405	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1288950113 CA354375236	406	F>S		No	ClinGen gnomAD
rs1454844221 CA354375230	406	F>V		No	ClinGen gnomAD
rs750480382 CA354375276	407	C>W		No	ClinGen ExAC TOPMed gnomAD
CA83281548 rs550124268	408	G>R		No	ClinGen 1000Genomes TOPMed gnomAD
CA2593162 rs760698411	412	N>K		No	ClinGen ExAC
CA354375404 rs1576669157	412	N>T		No	ClinGen Ensembl
CA354375456 rs1331182959	414	P>L		No	ClinGen TOPMed
CA2593165 rs753996113	417	G>S		No	ClinGen ExAC
CA354375540 rs1319266861	418	T>I		No	ClinGen TOPMed gnomAD
rs758243312 CA2593169	421	I>V		No	ClinGen ExAC gnomAD
rs539036594 CA2593171	424	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1437521824 CA354375626	425	P>T		No	ClinGen TOPMed
rs769129246 CA2593175	427	F>L		No	ClinGen ExAC gnomAD
CA2593177 rs748740083	428	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2593178 rs572514021	429	D>E		No	ClinGen 1000Genomes gnomAD
rs772478941 CA2593180	431	D>Y		No	ClinGen ExAC gnomAD
CA354375808 rs1208765124	434	L>P		No	ClinGen TOPMed
CA354375817 rs1576669223	435	T>P		No	ClinGen Ensembl
COSM1037828 CA2593183 rs766392082	436	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs150194563 CA2593185	437	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs150194563 CA354375850	437	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA2593187 rs138683615	440	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA354375922 rs1453888140	441	D>E		No	ClinGen TOPMed
rs758168277 CA2593188	441	D>G		No	ClinGen ExAC gnomAD
rs1273987008 CA354375945	442	Y>C		No	ClinGen gnomAD
rs370434411 CA2593190	443	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs576258194 CA2593189	443	R>W		No	ClinGen 1000Genomes ExAC gnomAD
rs1230984994 CA354375981	444	G>V		No	ClinGen TOPMed gnomAD
CA2593192 rs780843387	445	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2593194 rs543595407	445	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2593193 rs543595407	445	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs565254039 CA83281755	446	T>A		No	ClinGen 1000Genomes gnomAD
CA354376007 rs1166484051	446	T>S		No	ClinGen gnomAD
rs544991662 CA354376084	450	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2593197 rs544991662	450	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354376091 rs1286032053	450	A>V		No	ClinGen TOPMed gnomAD
rs1443432812 CA354376097	451	G>S		No	ClinGen TOPMed gnomAD
CA2593199 rs747504201	452	T>M		No	ClinGen ExAC gnomAD
CA2593203 rs149382163	453	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2593202 rs149382163	453	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA354376162 rs149382163	453	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs762669501 CA2593205	456	R>C		No	ClinGen ExAC TOPMed gnomAD
rs763967797 CA2593206	456	R>L		No	ClinGen ExAC gnomAD
CA354376219 rs1342652067	457	I>V		No	ClinGen TOPMed
rs757227128 CA2593208	458	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2593209 rs767186496	458	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2593210 rs767186496	458	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1272145423 CA354378294	460	I>V		No	ClinGen TOPMed
CA2593231 rs760119954	463	D>A		No	ClinGen ExAC gnomAD
rs1455886464 CA354378328	463	D>N		No	ClinGen gnomAD
CA2593233 rs753503450	468	G>S		No	ClinGen ExAC TOPMed gnomAD
rs569480080 CA83293674	469	G>D		No	ClinGen 1000Genomes TOPMed gnomAD
CA83293669 rs373700959	469	G>S		No	ClinGen ESP
CA2593235 rs374308165	470	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs139335831 CA2593234	470	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1368471847 CA354378474	471	P>H		No	ClinGen gnomAD
CA2593237 rs757547337	472	A>P		No	ClinGen ExAC gnomAD
rs912706460 CA83293701	472	A>V		No	ClinGen Ensembl
rs1349880657 CA354378499	474	A>S		No	ClinGen gnomAD
rs1221538221 CA354378530	475	Y>C		No	ClinGen gnomAD
CA354378552 rs1464998521	476	E>*		No	ClinGen TOPMed gnomAD
CA354378543 rs1464998521	476	E>K		No	ClinGen TOPMed gnomAD
rs769829975 CA354378592	477	S>R		No	ClinGen ExAC TOPMed gnomAD
CA2593241 rs199693063	478	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354378601 rs199693063	478	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769023960 CA2593243	479	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1232060623 CA354378646	481	Q>R		No	ClinGen TOPMed
CA2593245 rs146043134	482	E>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA354378673 rs1408779445	483	G>S		No	ClinGen gnomAD
rs947372600 CA83293743	484	S>N		No	ClinGen Ensembl
CA2593247 rs773085393	486	I>V		No	ClinGen ExAC gnomAD
rs760660574 CA2593248	487	L>V		No	ClinGen ExAC gnomAD
CA2593250 rs765849153	488	R>*		No	ClinGen ExAC TOPMed gnomAD
CA2593249 rs765849153	488	R>G		No	ClinGen ExAC TOPMed gnomAD
rs371509882 CA354378781	490	L>I		No	ClinGen ESP TOPMed gnomAD
CA83293784 rs371509882	490	L>V		No	ClinGen ESP TOPMed gnomAD
COSM1221243 CA2593252 rs148689550	491	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA354378790 rs148689550	491	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2593254 rs376199345	492	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs376199345 CA2593255	492	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA354378815 rs1232215636	493	S>G		No	ClinGen gnomAD
rs750934247 CA2593256	493	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1297955558 CA354378873	495	N>S		No	ClinGen TOPMed
CA354378870 rs1297955558	495	N>T		No	ClinGen TOPMed
CA2593257 rs756620657	496	H>N		No	ClinGen ExAC gnomAD
CA83293865 rs57968520	497	Q>H		No	ClinGen Ensembl
CA2593258 rs370867851	497	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2593259 rs749411338	498	Y>D		No	ClinGen ExAC gnomAD
rs779292021 CA2593261	501	A>T		No	ClinGen ExAC TOPMed gnomAD
rs138997671 CA2593263	504	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA354379255 rs748424966	508	T>K		No	ClinGen ExAC TOPMed gnomAD
COSM3427005 CA2593280 rs748424966	508	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA354379253 rs1294390630	508	T>S		No	ClinGen gnomAD
CA2593282 rs777812102	509	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs985980984 CA83295404	509	R>W		No	ClinGen gnomAD
rs911688550 CA83295423	510	V>L		No	ClinGen TOPMed gnomAD
rs965996828 CA83295435	512	V>M		No	ClinGen Ensembl
rs1283167156 CA354379344	513	E>A		No	ClinGen gnomAD
CA2593283 rs746821025	513	E>D		No	ClinGen ExAC gnomAD
CA354379440 rs1430555028	519	T>A		No	ClinGen gnomAD
CA2593285 rs553760506	519	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2593286 rs565669266	522	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354379530 rs1429097455	525	L>R		No	ClinGen TOPMed
rs1360881564 CA354379545	527	S>L		No	ClinGen gnomAD
CA354379546 rs769333083	528	R>G		No	ClinGen ExAC TOPMed gnomAD
COSM1418673 rs372378194 CA2593288	528	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs769333083 CA2593287	528	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1576676285 CA354379557	529	D>A		No	ClinGen Ensembl
CA354379553 rs1382264628	529	D>N		No	ClinGen gnomAD
rs1576676285 CA354379560	529	D>V		No	ClinGen Ensembl
rs913609439 CA83295516	531	H>Y		No	ClinGen gnomAD
CA2593289 rs762318661	535	C>G		No	ClinGen ExAC gnomAD
rs763836960 CA2593290	535	C>Y		No	ClinGen ExAC gnomAD
CA2593291 rs773809530	536	V>A		No	ClinGen ExAC gnomAD
rs761116282 CA2593292	538	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA354379672 rs1238373974	539	S>N		No	ClinGen gnomAD
CA354379759 rs1198517792	541	C>R		No	ClinGen TOPMed
CA2593318 rs559370201	542	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354379801 rs773750093	543	R>L		No	ClinGen TOPMed gnomAD
CA83295895 rs773750093	543	R>Q		No	ClinGen TOPMed gnomAD
rs926249946 CA83295893	543	R>W		No	ClinGen TOPMed gnomAD
CA354379806 rs751844491	544	R>G		No	ClinGen ExAC gnomAD
CA354379807 rs1350798535	544	R>Q		No	ClinGen TOPMed gnomAD
COSM1221239 CA2593319 rs751844491	544	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA354379829 rs781343030	545	D>E		No	ClinGen ExAC TOPMed gnomAD
CA83295911 rs1054622706	546	A>T		No	ClinGen TOPMed gnomAD
rs1337289788 CA354379886	549	R>*		No	ClinGen TOPMed
rs375552335 CA2593322	549	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1469755260 CA354379922	550	A>E		No	ClinGen gnomAD
rs147582354 CA83295920	551	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1292779169 CA354379947	551	D>G		No	ClinGen gnomAD
rs1230210680 CA354379963	552	E>K		No	ClinGen gnomAD
CA2593325 rs749170676	555	R>C		No	ClinGen ExAC gnomAD
CA2593326 rs768279070	555	R>H		No	ClinGen ExAC TOPMed gnomAD
rs778256624 CA83295951	558	A>E		No	ClinGen ExAC TOPMed gnomAD
CA354380167 rs1428550865	558	A>S		No	ClinGen gnomAD
rs778256624 CA2593327	558	A>V		No	ClinGen ExAC TOPMed gnomAD
rs771875795 CA2593329	560	L>V		No	ClinGen ExAC gnomAD
rs1439606216 CA354380403	567	T>S		No	ClinGen TOPMed
CA354380432 rs1440793854	569	Q>*		No	ClinGen TOPMed
rs117043507 CA2593333	571	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2593335 rs763333526	571	R>H		No	ClinGen ExAC TOPMed gnomAD
CA354380482 rs763333526	571	R>L		No	ClinGen ExAC TOPMed gnomAD
CA2593334 rs117043507	571	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764283137 CA2593336	572	N>S		No	ClinGen ExAC TOPMed gnomAD
rs774316438 CA2593337	574	S>T		No	ClinGen ExAC gnomAD
CA2593338 rs761839227	577	M>V		No	ClinGen ExAC TOPMed gnomAD
CA354380638 rs1213735631	579	Q>P		No	ClinGen gnomAD
rs1205742870 CA354380696	581	P>Q		No	ClinGen gnomAD
CA354380690 rs1344111075	581	P>T		No	ClinGen gnomAD
CA354381417 rs773489726	583	V>L		No	ClinGen ExAC TOPMed gnomAD
CA2593357 rs773489726	583	V>M		No	ClinGen ExAC TOPMed gnomAD
CA83296247 rs967938675	584	L>M		No	ClinGen Ensembl
CA354381466 rs1251639491	586	A>V		No	ClinGen gnomAD
CA2593358 rs372511113	587	W>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA354381521 rs766246674	588	N>K		No	ClinGen ExAC gnomAD
CA2593360 rs547309194	589	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2593361 rs754766599	591	D>G		No	ClinGen ExAC TOPMed gnomAD
rs201695917 CA2593362	592	L>F		No	ClinGen ExAC TOPMed gnomAD
rs201695917 CA354381578	592	L>I		No	ClinGen ExAC TOPMed gnomAD
rs201695917 CA2593363	592	L>V		No	ClinGen ExAC TOPMed gnomAD
rs758044637 CA2593364	593	S>L		No	ClinGen ExAC gnomAD
rs1297226479 CA354381629	594	A>V		No	ClinGen TOPMed
CA2593366 rs200374384 COSM1418674	596	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs145298497 CA2593367	597	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1559958029 CA354381690	598	C>Y		No	ClinGen Ensembl
rs1168498744 CA354381744	601	E>G		No	ClinGen TOPMed
CA354381737 rs1413725035	601	E>K		No	ClinGen TOPMed
rs774942164 CA83296330	602	D>V		No	ClinGen Ensembl
CA2593370 rs769006559	603	F>C		No	ClinGen ExAC gnomAD
CA354381797 rs1269557868	604	T>M		No	ClinGen gnomAD
rs991892572 CA83296349	604	T>P		No	ClinGen gnomAD
CA354381790 rs991892572	604	T>S		No	ClinGen gnomAD
CA2593376 rs771092009	609	V>A		No	ClinGen ExAC gnomAD
rs143376196 CA2593374	609	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2593373 rs143376196	609	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143376196 CA2593375	609	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2593377 rs569605295	611	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA354381929 rs1576676647	612	D>G		No	ClinGen Ensembl
CA2593378 rs759267125	613	G>V		No	ClinGen ExAC TOPMed
rs752717809 CA2593380	614	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs150750071 CA2593379	614	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354381967 rs376751815	615	I>F		No	ClinGen ESP TOPMed gnomAD
rs376751815 CA83296448	615	I>V		No	ClinGen ESP TOPMed gnomAD
rs762958945 CA2593381	618	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM1221242 rs116047844 CA2593382	618	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA354382028 rs1388270379	620	P>S		No	ClinGen gnomAD
CA2593383 rs576626735	621	S>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767016402 CA2593384	621	S>F		No	ClinGen ExAC TOPMed gnomAD
rs370519091 CA354382046	622	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2593386 rs370519091	622	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs140490374 CA2593388	623	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs748705785 CA2593389	623	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2593387 rs140490374	623	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA83296511 rs887810163	625	V>M		No	ClinGen TOPMed
CA354382094 rs772590873	626	A>E		No	ClinGen ExAC gnomAD
CA354382088 rs1330169639	626	A>T		No	ClinGen TOPMed
CA2593390 rs772590873	626	A>V		No	ClinGen ExAC gnomAD
CA2593392 rs374749572	628	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2593393 rs574788327	629	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370707852 CA2593396	630	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs759769082 CA2593395	630	R>W		No	ClinGen ExAC gnomAD
CA2593397 rs775444611	631	G>D		No	ClinGen ExAC TOPMed gnomAD
CA354382139 rs1370432756	632	Q>E		No	ClinGen TOPMed gnomAD
rs1370432756 CA354382137	632	Q>K		No	ClinGen TOPMed gnomAD
CA2593398 rs762794822	632	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA2593426 rs752051811	634	D>E		No	ClinGen ExAC gnomAD
CA2593425 rs145729852	634	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA354382192 rs1246489362	635	Q>*		No	ClinGen TOPMed gnomAD
CA354382199 rs1246489362	635	Q>E		No	ClinGen TOPMed gnomAD
rs573498891 CA2593428	636	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs369477952 CA2593427	636	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA354382234 rs1576677250	637	V>G		No	ClinGen Ensembl
rs746398305 CA83297675	637	V>M		No	ClinGen Ensembl
CA2593430 rs756203230	638	V>A		No	ClinGen ExAC gnomAD
rs756203230 CA354382249	638	V>G		No	ClinGen ExAC gnomAD
rs1432543450 CA354382241	638	V>L		No	ClinGen gnomAD
CA2593433 rs768612946	641	Y>C		No	ClinGen ExAC gnomAD
CA2593432 rs749515646	641	Y>H		No	ClinGen ExAC gnomAD
CA2593434 rs774174563	643	K>N		No	ClinGen ExAC TOPMed gnomAD
CA2593435 rs747849794	645	K>E		No	ClinGen ExAC TOPMed gnomAD
CA354382433 rs1370786843	647	T>I		No	ClinGen TOPMed gnomAD
rs772079790 CA2593436	649	K>R		No	ClinGen ExAC TOPMed gnomAD
rs772958660 CA2593437	652	A>T		No	ClinGen ExAC TOPMed gnomAD
COSM1418676 CA2593438 rs760194008	652	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1371233684 CA354382561	653	S>P		No	ClinGen TOPMed
rs764817753 CA2593442	655	D>G		No	ClinGen ExAC TOPMed gnomAD
COSM1418677 rs138310005 CA2593444	657	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1559958502 CA354382661	660	N>Y		No	ClinGen Ensembl
rs373169511 CA83297825	662	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs756328115 CA2593447	663	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2593451 rs529602171	666	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2593450 rs529602171	666	S>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1484621051 CA354383237	669	S>F		No	ClinGen TOPMed
CA354383260 rs1167245502	672	N>D		No	ClinGen gnomAD
rs745393581 CA354383265	672	N>K		No	ClinGen ExAC TOPMed gnomAD
CA83299638 rs998661769	672	N>S		No	ClinGen Ensembl
CA2593476 rs769172331	673	G>S		No	ClinGen ExAC TOPMed gnomAD
CA2593478 rs762481811	675	F>L		No	ClinGen ExAC gnomAD
CA354383300 rs1576678112	676	P>S		No	ClinGen Ensembl
rs1576678116 CA354383310	677	C>R		No	ClinGen Ensembl
rs1576678120 CA354383327	678	H>P		No	ClinGen Ensembl
CA354383340 rs1282104514	679	W>G		No	ClinGen gnomAD
CA354383338 rs1282104514	679	W>R		No	ClinGen gnomAD
rs113906667 CA354383350	680	C>G		No	ClinGen Ensembl
rs113906667 CA83299719	680	C>R		No	ClinGen Ensembl
rs1237806582 CA354383354	680	C>Y		No	ClinGen TOPMed
CA354383367 rs1303712988	681	K>R		No	ClinGen TOPMed gnomAD
CA354383384 rs1576678134	682	Y>*		No	ClinGen Ensembl
CA2593480 rs773735108	682	Y>C		No	ClinGen ExAC gnomAD
CA354383381 rs773735108	682	Y>S		No	ClinGen ExAC gnomAD
rs1434113070 CA354383394	683	R>C		No	ClinGen TOPMed gnomAD
CA354383404 rs1295233172	684	H>P		No	ClinGen TOPMed gnomAD
CA354383402 rs1295233172	684	H>R		No	ClinGen TOPMed gnomAD
CA354383409 rs767000075	685	V>L		No	ClinGen ExAC TOPMed gnomAD
CA2593482 COSM727652 rs767000075	685	V>M	lung large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA354383419 rs1383337449	686	C>Y		No	ClinGen TOPMed
rs754340885 CA2593483	687	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1211791237 CA354383443	688	H>Y		No	ClinGen gnomAD
rs1003059926 CA83299789	689	N>D		No	ClinGen Ensembl
rs778007839 CA354383473	689	N>K		No	ClinGen ExAC TOPMed gnomAD
CA2593487 rs758531850	689	N>S		No	ClinGen ExAC TOPMed gnomAD
rs138563178 CA2593489	690	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1450613648 CA354383482	691	A>P		No	ClinGen gnomAD
rs756985363 CA354383508	692	D>E		No	ClinGen ExAC TOPMed gnomAD
RCV001291737 rs756985363 CA2593490	692	D>E		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA2593492 rs149327396	694	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA354383561 rs1388190428	697	E>K		No	ClinGen gnomAD
rs1318325016 CA354383586	698	G>D		No	ClinGen gnomAD
rs1367153023 CA354383594	699	R>C		No	ClinGen TOPMed gnomAD
CA2593494 rs779409701	699	R>H		No	ClinGen ExAC TOPMed gnomAD
CA354383601 rs1274250786	700	V>I		No	ClinGen TOPMed gnomAD
CA354383624 rs1364855568	701	N>S		No	ClinGen gnomAD
rs768224356 CA2593496	702	V>M		No	ClinGen ExAC gnomAD
rs1207161686 CA354383640	703	S>F		No	ClinGen gnomAD
rs1207161686 CA354383638	703	S>Y		No	ClinGen gnomAD
rs1369386684 CA354383767	705	D>Y		No	ClinGen gnomAD
rs764153283 CA2593526	706	C>Y		No	ClinGen ExAC gnomAD
CA354383831 rs1559960364	712	S>F		No	ClinGen Ensembl
CA354383827 rs1468414142	712	S>P		No	ClinGen TOPMed gnomAD
CA354383826 rs1468414142	712	S>T		No	ClinGen TOPMed gnomAD
CA2593528 rs201387860	713	T>M		No	ClinGen ExAC TOPMed gnomAD
rs767676586 CA2593530	715	I>M		No	ClinGen ExAC TOPMed gnomAD
CA83310038 rs375308207	715	I>V		No	ClinGen ESP
CA354383855 rs1247347649	716	Y>C		No	ClinGen gnomAD
CA2593531 rs755897446 COSM1484561	717	V>M	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA354383889 rs1207391012	718	P>S		No	ClinGen gnomAD
rs753790778 CA2593533	719	V>A		No	ClinGen ExAC gnomAD
rs754573653 CA2593534	720	G>E		No	ClinGen ExAC gnomAD
rs778559905 CA2593535	723	K>N		No	ClinGen ExAC gnomAD
CA354384033 rs758132605	726	T>A		No	ClinGen ExAC gnomAD
CA2593537 rs758132605	726	T>P		No	ClinGen ExAC gnomAD
rs78052417 CA354384078	729	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2593540 rs78052417	729	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs369862317 CA2593542	730	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs551831498 CA2593541	730	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768783234 CA2593543	731	N>T		No	ClinGen ExAC gnomAD
CA354384306 rs1422827858	738	G>R		No	ClinGen TOPMed
CA354384331 rs1441511872	740	R>G		No	ClinGen TOPMed gnomAD
CA354384334 rs1340705391	740	R>H		No	ClinGen gnomAD
CA354384362 rs1422477758	741	G>E		No	ClinGen TOPMed
rs1190232126 CA354384405	744	C>Y		No	ClinGen TOPMed
CA354384436 rs1251945006	746	F>V		No	ClinGen gnomAD
CA354384474 rs1045143459	748	I>M		No	ClinGen TOPMed gnomAD
CA354384472 rs1234304450	748	I>N		No	ClinGen TOPMed
CA2593547 rs188507219	748	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1258547002 CA354384502	749	P>L		No	ClinGen TOPMed gnomAD
rs145010644 CA2593550	752	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA83310164 rs375908488	753	A>T		No	ClinGen ESP TOPMed gnomAD
CA354384571 rs1373153386	754	R>C		No	ClinGen gnomAD
CA2593551 rs373018192	754	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1576680617 CA354384595	756	T>P		No	ClinGen Ensembl
rs893786919 CA83310190	757	A>T		No	ClinGen gnomAD
rs767731991 CA83310209	759	R>C		No	ClinGen Ensembl
rs1470485905 CA354384654	759	R>H		No	ClinGen gnomAD
rs1320333707 CA354384669	760	F>V		No	ClinGen gnomAD
rs1576680633 CA354384685	761	N>T		No	ClinGen Ensembl
rs956686189 CA354384720	763	S>P		No	ClinGen TOPMed gnomAD
CA83310210 rs956686189	763	S>T		No	ClinGen TOPMed gnomAD
CA354384738 rs1444227250	764	S>C		No	ClinGen TOPMed
rs752255854 CA354384757	764	S>R		No	ClinGen ExAC gnomAD
CA2593554 rs757936424	771	S>L		No	ClinGen ExAC gnomAD
CA83312269 rs866130853	772	Y>H		No	ClinGen Ensembl
rs1192208461 CA354385593	774	Y>H		No	ClinGen TOPMed
rs771186212 CA2593583	775	E>K		No	ClinGen ExAC gnomAD
rs771186212 CA354385605	775	E>Q		No	ClinGen ExAC gnomAD
CA2593584 rs776673473	776	G>R		No	ClinGen ExAC TOPMed gnomAD
CA2593585 rs745711360	776	G>V		No	ClinGen ExAC gnomAD
rs775638817 CA2593587	778	D>G		No	ClinGen ExAC TOPMed
rs1206635599 CA354385639	778	D>N		No	ClinGen TOPMed
CA2593591 rs761188399	781	D>A		No	ClinGen ExAC gnomAD
CA354385673 rs773918050	781	D>H		No	ClinGen ExAC TOPMed gnomAD
rs773918050 CA2593590	781	D>N		No	ClinGen ExAC TOPMed gnomAD
CA354385700 rs1559961038	783	P>L		No	ClinGen Ensembl
CA83312313 rs1008154383	785	N>K		No	ClinGen gnomAD
CA354385720 rs1008154383	785	N>K		No	ClinGen gnomAD
rs1576681716 CA354385716	785	N>T		No	ClinGen Ensembl
CA354385755 rs1165954835	789	V>A		No	ClinGen gnomAD
rs750054923 CA2593594	789	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2593596 rs140406218	792	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2593597 rs753258928	793	N>S		No	ClinGen ExAC gnomAD
CA2593598 rs758953798	794	F>V		No	ClinGen ExAC gnomAD
rs750365934 CA83312391	796	I>T		No	ClinGen Ensembl
rs968664144 CA83312388	796	I>V		No	ClinGen TOPMed
rs1302554069 CA354385845	799	P>A		No	ClinGen gnomAD
rs372223958 CA354385864	801	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA2593601 rs527649426	802	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA2593624 rs749131665	804	A>V		No	ClinGen ExAC TOPMed gnomAD
CA2593626 rs778949968	807	Y>C		No	ClinGen ExAC gnomAD
rs1244350003 CA354385927	809	C>R		No	ClinGen gnomAD
rs1475759518 CA354385939	810	P>L		No	ClinGen TOPMed gnomAD
CA2593629 rs771627010	811	A>S		No	ClinGen ExAC gnomAD
rs377092932 CA2593630	811	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA354385947 rs1311907227	812	L>P		No	ClinGen gnomAD
CA354385951 rs1177504178	813	R>C		No	ClinGen TOPMed gnomAD
rs368277644 CA2593631	813	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs776095911 CA2593633	814	E>K		No	ClinGen ExAC TOPMed gnomAD
CA354385963 rs1559961142	815	S>G		No	ClinGen Ensembl
rs1430764234 CA354385977	817	G>S		No	ClinGen gnomAD
CA354385985 rs1397036781	818	L>F		No	ClinGen TOPMed gnomAD
CA354385984 rs1397036781	818	L>V		No	ClinGen TOPMed gnomAD
rs1343145219 CA354385990	819	C>R		No	ClinGen gnomAD
rs1210464814 CA354386030	821	K>R		No	ClinGen TOPMed
CA354386043 rs1283594312	822	A>D		No	ClinGen gnomAD
rs555510429 CA2593638	823	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2593637 rs555510429	823	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs555510429 CA354386051	823	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2593639 rs376695682	824	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA354386068 rs1286896760	824	P>S		No	ClinGen gnomAD
CA354386065 rs1286896760	824	P>T		No	ClinGen gnomAD
CA354386080 COSM1221240 rs1266858113	825	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
COSM1037841 CA2593641 rs369081095	825	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA354386105 rs1472117435	827	E>G		No	ClinGen gnomAD
CA2593643 rs754868671	827	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1322888326 CA354386137	829	G>E		No	ClinGen gnomAD
CA354386129 rs771998859	829	G>R		No	ClinGen ExAC gnomAD
rs771998859 CA2593646	829	G>R		No	ClinGen ExAC gnomAD
rs1406261955 CA354386160	831	C>Y		No	ClinGen gnomAD
CA2593648 rs544321147	832	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs577744672 CA2593651	834	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354386203 rs1351932655	835	R>C		No	ClinGen gnomAD
rs1228235901 CA354386205	835	R>H		No	ClinGen TOPMed gnomAD
rs769431870 CA2593652	836	R>C		No	ClinGen ExAC TOPMed gnomAD
rs374673201 CA2593653	836	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1037843 rs1184304062 CA354386253	840	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs762229287 CA2593654	840	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1470423475 CA354386263	841	H>R		No	ClinGen gnomAD
rs1576682005 CA354386267	842	H>N		No	ClinGen Ensembl
rs768162057 CA354386293	843	C>W		No	ClinGen ExAC TOPMed gnomAD
CA2593656 rs199523740	844	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1425963746 CA354386305	845	A>T		No	ClinGen gnomAD
rs1369442657 CA354386319	846	D>N		No	ClinGen gnomAD
rs1215514835 CA354386353	848	P>R		No	ClinGen TOPMed
rs545301572 CA2593658	850	S>L		No	ClinGen 1000Genomes ExAC gnomAD
CA354386370 rs1336662609	850	S>P		No	ClinGen TOPMed gnomAD
CA354386369 rs1336662609	850	S>T		No	ClinGen TOPMed gnomAD
CA354386388 rs1385645160	851	W>C		No	ClinGen gnomAD
CA354386437 rs373519407	854	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA2593661 rs371145234 COSM1418678	854	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA2593662 rs373519407	854	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs371005639 CA2593664	855	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs374903793 CA2593665	855	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374903793 CA354386446	855	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs920317173 CA354386455	856	H>Q		No	ClinGen TOPMed gnomAD
CA2593666 rs376939175	857	G>S		No	ClinGen ExAC TOPMed gnomAD
rs745320320 CA2593668	860	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1460034105 CA354386531	862	T>I		No	ClinGen gnomAD
rs773921532 CA2593673	863	D>G		No	ClinGen ExAC gnomAD
rs367569800 CA2593671	863	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2593672 rs367569800	863	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2593674 rs761250156	867	L>F		No	ClinGen ExAC TOPMed gnomAD
CA2593675 rs766849650	868	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1364976700 CA354386629	869	L>M		No	ClinGen gnomAD
CA2593702 rs750344537	869	L>Q		No	ClinGen ExAC gnomAD
CA83313161 rs779697902	870	S>C		No	ClinGen ExAC gnomAD
rs779697902 CA2593704	870	S>F		No	ClinGen ExAC gnomAD
rs1346405817 CA354386639	870	S>P		No	ClinGen gnomAD
CA354386664 rs1314981873	872	E>K		No	ClinGen TOPMed gnomAD
CA2593706 rs754680176	873	T>A		No	ClinGen ExAC gnomAD
CA2593707 rs549841697	873	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354386691 rs1219659382	874	G>D		No	ClinGen gnomAD
rs771302841 CA2593709	875	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2593711 rs746379194	876	R>G		No	ClinGen ExAC gnomAD
rs1248841909 CA354386723	877	Q>*		No	ClinGen gnomAD
rs1421263720 CA354386731	877	Q>H		No	ClinGen TOPMed gnomAD
rs1385187998 CA354386746	879	G>S		No	ClinGen gnomAD
rs770145599 CA2593712	880	T>M		No	ClinGen ExAC gnomAD
rs141028957 CA2593715	881	R>Q		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA83313261 rs918807249	885	T>I		No	ClinGen TOPMed gnomAD
rs1381973979 CA354386826	886	G>D		No	ClinGen gnomAD
rs1309838696 CA354386820	886	G>S		No	ClinGen gnomAD
rs750386298 CA2593719	887	E>K		No	ClinGen ExAC TOPMed gnomAD
CA83313270 rs913448979	889	L>P		No	ClinGen Ensembl
rs766352439 CA2593721 COSM1037847	892	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA354386892 rs753430457	892	R>L		No	ClinGen ExAC TOPMed gnomAD
CA2593722 rs753430457	892	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs754485822 CA2593724	893	F>L		No	ClinGen ExAC TOPMed gnomAD
rs752361197 CA2593725	894	E>K		No	ClinGen ExAC TOPMed gnomAD
rs757626138 CA2593726	894	E>V		No	ClinGen ExAC gnomAD
rs149860040 CA2593728	895	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1186035055 CA354386922	895	D>N		No	ClinGen gnomAD
CA83313369 rs566200618	896	V>M		No	ClinGen 1000Genomes gnomAD
CA2593729 COSM241188 rs145859299	897	R>C	prostate [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA2593730 rs138276286	897	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA354386954 rs138276286	897	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA354386977 rs1405134624	900	V>M		No	ClinGen TOPMed gnomAD
rs768691319 CA2593732	901	R>C		No	ClinGen ExAC TOPMed gnomAD
rs145637703 CA2593735	902	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA354386999 RCV001255115 rs145637703	902	V>M		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA83313414 rs895638148	903	G>D		No	ClinGen TOPMed gnomAD
rs1475225505 CA354387003	903	G>S		No	ClinGen TOPMed
rs773061526 CA2593736	905	V>L		No	ClinGen ExAC TOPMed gnomAD
CA2593737 rs760346672	906	L>P		No	ClinGen ExAC TOPMed gnomAD
rs760346672 CA354387044	906	L>R		No	ClinGen ExAC TOPMed gnomAD
CA354387048 rs1242404448	907	C>R		No	ClinGen TOPMed
rs1262903748 CA354387050	907	C>Y		No	ClinGen gnomAD
CA2593738 rs370453893	908	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA83313418 rs138171477 COSM2156656	908	S>N	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
CA2593739 rs776684210	908	S>R		No	ClinGen ExAC gnomAD
rs759152920 CA2593740	909	P>L		No	ClinGen ExAC gnomAD
CA354387131 rs1421803593	911	E>A		No	ClinGen gnomAD
CA2593742 rs752346533	913	E>K		No	ClinGen ExAC gnomAD
CA83313430 rs549046031	914	Y>F		No	ClinGen 1000Genomes gnomAD
CA2593743 rs758078029	915	I>F		No	ClinGen ExAC gnomAD
rs763616398 CA354387215	917	A>G		No	ClinGen ExAC TOPMed gnomAD
rs763616398 CA2593744	917	A>V		No	ClinGen ExAC TOPMed gnomAD
rs143472967 CA2593776	921	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA83313648 rs143472967	921	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2593777 rs781145664	924	I>T		No	ClinGen ExAC gnomAD
rs1426163933 CA354387519	925	G>E		No	ClinGen gnomAD
rs1363217701 CA354387511	925	G>R		No	ClinGen TOPMed gnomAD
CA354387508 rs1363217701	925	G>R		No	ClinGen TOPMed gnomAD
CA354387549 rs1440501923	927	A>T		No	ClinGen gnomAD
CA354387582 rs1454991898	929	S>P		No	ClinGen TOPMed
rs1378263956 CA354387600	930	V>M		No	ClinGen gnomAD
rs762568727 CA2593781	931	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2593782 rs565208638	933	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1206783819 CA354387664	935	A>T		No	ClinGen TOPMed
rs1436284235 CA354387672	936	L>V		No	ClinGen TOPMed
rs1274191969 CA354387705	939	V>A		No	ClinGen TOPMed
CA354387722 rs1280285838	941	V>L		No	ClinGen TOPMed gnomAD
CA2593785 rs767091730	942	R>Q		No	ClinGen ExAC gnomAD
CA83313738 rs925924527	942	R>W		No	ClinGen TOPMed gnomAD
CA2593787 rs759844027	947	H>R		No	ClinGen ExAC gnomAD
CA2593786 rs754231047	947	H>Y		No	ClinGen ExAC gnomAD
rs1445944360 CA354387791	948	Y>D		No	ClinGen gnomAD
rs1299373755 CA354387802	948	Y>F		No	ClinGen TOPMed
CA2593788 rs765821774	949	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1395349765 CA354387819	949	R>H		No	ClinGen gnomAD
CA2593790 COSM1418680 rs758567414	950	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1401564465 CA354387841	951	L>P		No	ClinGen gnomAD
CA354387837 rs1435683607	951	L>V		No	ClinGen TOPMed
rs1377617484 CA354387862	953	P>T		No	ClinGen TOPMed
rs148252362 CA2593791	955	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1313568910 CA354387891	955	R>H		No	ClinGen gnomAD
rs1269777504 CA354387925	958	F>Y		No	ClinGen gnomAD
CA2593795 rs748401745	959	V>M		No	ClinGen ExAC gnomAD
CA354388000 rs1263495179	960	T>I		No	ClinGen gnomAD
CA354388018 rs1341928070	961	P>L		No	ClinGen TOPMed
CA354388014 rs1226573730	961	P>S		No	ClinGen TOPMed
CA2593813 rs750673452	962	T>A		No	ClinGen ExAC gnomAD
rs372287562 CA2593815	963	F>L		No	ClinGen ESP ExAC gnomAD
CA2593816 rs375569981	965	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1329917265 CA354388071	965	R>H		No	ClinGen TOPMed
rs778771221 CA2593818	967	S>N		No	ClinGen ExAC gnomAD
CA83314249 rs563010594	968	P>S		No	ClinGen Ensembl
rs772912368 CA2593821	969	S>F		No	ClinGen ExAC gnomAD
rs746625568 CA2593822	970	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2593823 rs571216968	970	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs538720481 CA2593825	977	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs764750743 CA2593826	978	W>C		No	ClinGen ExAC TOPMed gnomAD
CA83314262 rs991656145	979	I>L		No	ClinGen TOPMed gnomAD
CA354388298 rs1196923651	980	G>C		No	ClinGen gnomAD
CA354388301 rs774971878	980	G>D		No	ClinGen ExAC TOPMed gnomAD
rs774971878 CA2593827	980	G>V		No	ClinGen ExAC TOPMed gnomAD
CA354388372 rs1434135249	985	H>Y		No	ClinGen TOPMed gnomAD
CA2593828 rs762055461	986	L>V		No	ClinGen ExAC TOPMed
rs750473154 CA2593830	988	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2593831 COSM1262554 rs750473154	988	A>T	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1422111948 CA354388419	989	G>C		No	ClinGen gnomAD
rs553732537 CA2593832	991	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs553732537 CA2593833	991	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs141247038 CA83314290	992	V>M		No	ClinGen ESP
rs754778777 CA2593834	993	A>T		No	ClinGen ExAC gnomAD
rs1422956299 CA354388462	993	A>V		No	ClinGen gnomAD
rs1576682866 CA354388470	994	V>G		No	ClinGen Ensembl
rs1295518362 CA354388466	994	V>L		No	ClinGen gnomAD
COSM4138405 CA2593835 rs572186564	995	S>L	ovary [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs1576682874 CA354388484	996	V>G		No	ClinGen Ensembl
rs757957919 CA2593837	996	V>I		No	ClinGen ExAC gnomAD
rs746458823 CA2593839	997	G>S		No	ClinGen ExAC TOPMed gnomAD
CA354388504 rs1309346806	998	G>V		No	ClinGen gnomAD
CA2593841 rs554409066	999	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354388926 rs1219729233	999	R>Q		No	ClinGen gnomAD
CA2593840 rs554409066	999	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749657923 CA2593842	1000	P>L		No	ClinGen ExAC gnomAD
rs1488989899 CA354388944	1001	C>Y		No	ClinGen gnomAD
rs1442079526 CA354388959	1002	S>F		No	ClinGen gnomAD
rs150806907 CA2593843	1002	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2593846 rs768071732	1004	S>F		No	ClinGen ExAC
rs1275890499 CA354389049	1005	W>C		No	ClinGen TOPMed
rs774120662 CA2593870	1009	R>C		No	ClinGen ExAC TOPMed gnomAD
rs774120662 CA2593869	1009	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2593871 rs762684975	1009	R>H		No	ClinGen ExAC TOPMed gnomAD
rs568445848 CA2593873	1011	I>S		No	ClinGen 1000Genomes ExAC
CA2593875 rs780772556	1012	R>Q		No	ClinGen ExAC gnomAD
CA2593874 rs756778515	1012	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1428417115 CA354389125	1013	C>G		No	ClinGen gnomAD
CA2593878 rs755863081	1016	P>S		No	ClinGen ExAC gnomAD
CA354389165 rs1452467485	1017	P>A		No	ClinGen gnomAD
rs1032173130 CA83315966	1018	G>R		No	ClinGen TOPMed gnomAD
CA2593882 rs778209530	1021	P>R		No	ClinGen ExAC gnomAD
CA2593883 rs747536476	1023	S>R		No	ClinGen ExAC gnomAD
CA354389233 rs771284172	1023	S>R		No	ClinGen ExAC TOPMed gnomAD
CA2593885 rs776772758	1024	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1412923846 CA354389245	1025	P>A		No	ClinGen TOPMed
rs770023709 CA2593887	1025	P>L		No	ClinGen ExAC gnomAD
rs377449139 CA2593889	1027	I>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs147142964 CA2593888	1027	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs200478874 CA2593891	1028	I>V		No	ClinGen ExAC TOPMed gnomAD
rs761815059 CA2593892	1030	I>F		No	ClinGen ExAC TOPMed gnomAD
rs1235677629 CA354389304	1031	N>D		No	ClinGen TOPMed
rs749976520 CA2593894	1032	R>C		No	ClinGen ExAC TOPMed gnomAD
rs369900614 CA2593895	1032	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs753534974 CA2593897	1033	A>T		No	ClinGen ExAC TOPMed gnomAD
CA354389349 rs1348433919	1035	L>F		No	ClinGen gnomAD
rs1229259635 CA354389356	1036	T>A		No	ClinGen TOPMed
rs199506043 CA2593900	1037	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757810446 CA2593901	1038	P>L		No	ClinGen ExAC TOPMed gnomAD
CA354389382 rs757810446	1038	P>R		No	ClinGen ExAC TOPMed gnomAD
CA354389448 rs1354515144	1044	Y>H		No	ClinGen gnomAD
CA2593904 rs769862865	1046	E>K		No	ClinGen ExAC TOPMed gnomAD
CA354389468 rs769862865	1046	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA354389521 rs1223466185	1050	I>T		No	ClinGen gnomAD
rs558177646 CA2593905	1050	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354389550 rs1176765549	1052	R>K		No	ClinGen gnomAD
CA354389594 rs1576683839	1054	D>A		No	ClinGen Ensembl
rs557431627 CA83316141	1054	D>E		No	ClinGen ExAC gnomAD
CA354389584 rs1162492330	1054	D>N		No	ClinGen gnomAD
rs1406787857 CA354389608	1055	P>S		No	ClinGen gnomAD
CA2593911 rs773254680	1056	E>K		No	ClinGen ExAC gnomAD
CA354389650 rs1445133270	1057	W>*		No	ClinGen gnomAD
CA2593912 rs760325684	1059	I>V		No	ClinGen ExAC gnomAD
CA354389692 rs1377687182	1060	N>S		No	ClinGen gnomAD
rs765970390 CA2593913	1061	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1253451101 CA354389771	1062	G>S		No	ClinGen gnomAD
rs1187759124 CA354389798	1064	T>I		No	ClinGen gnomAD
CA354389793 rs1576684032	1064	T>P		No	ClinGen Ensembl
CA83316447 rs975278290	1065	L>P		No	ClinGen TOPMed
rs568481403 CA2593940	1067	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354389873 rs1576684051	1071	T>P		No	ClinGen Ensembl
rs1424870129 CA354389890	1072	N>T		No	ClinGen gnomAD
rs1171349761 CA354389895	1073	L>M		No	ClinGen TOPMed gnomAD
CA2593944 rs754985073	1074	A>D		No	ClinGen ExAC gnomAD
CA83316476 rs1003447855	1075	T>S		No	ClinGen TOPMed gnomAD
rs372269425 CA83316477	1076	V>I		No	ClinGen ESP TOPMed
rs748301984 CA2593946 COSM1037855	1077	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs772360004 CA2593947	1077	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1340963152 CA354389923	1078	E>G		No	ClinGen gnomAD
CA354389931 rs1576684083	1079	P>R		No	ClinGen Ensembl
CA2593948 rs777711019	1080	R>*		No	ClinGen ExAC gnomAD
rs777711019 CA354389933	1080	R>G		No	ClinGen ExAC gnomAD
COSM1536531 rs746756931 CA2593949	1080	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA354389945 COSM1221244 rs1346443256	1082	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1284735847 CA354389950	1083	A>P		No	ClinGen gnomAD
CA354389965 rs1209579975	1084	K>T		No	ClinGen TOPMed
CA354389985 rs1218410444	1085	Y>C		No	ClinGen gnomAD
rs1264273412 CA354389997	1086	G>E		No	ClinGen gnomAD
CA354390022 rs1432973861	1088	I>T		No	ClinGen TOPMed gnomAD
rs1053890182 CA83316547	1090	R>S		No	ClinGen Ensembl
rs1197323778 CA354390067	1091	E>A		No	ClinGen gnomAD
rs1309417796 CA354391187	1093	G>S		No	ClinGen gnomAD
CA2593973 rs774895652	1093	G>V		No	ClinGen ExAC gnomAD
rs1232256637 CA354391223	1094	C>Y		No	ClinGen TOPMed
CA2593976 rs200818881	1098	N>S		No	ClinGen ExAC TOPMed gnomAD
CA354391328 rs1459515217	1100	T>N		No	ClinGen gnomAD
rs766719711 CA2593978	1101	T>N		No	ClinGen ExAC gnomAD
CA83321640 rs1029381983	1102	M>V		No	ClinGen Ensembl
rs776993963 CA2593979	1103	V>A		No	ClinGen ExAC TOPMed gnomAD
CA2593980 rs376747849 COSM203559	1105	R>C	oesophagus large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA2593981 rs765732002	1105	R>H		No	ClinGen ExAC TOPMed gnomAD
rs369260755 CA2593983	1106	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs562935197 CA2593984	1107	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1454025121 CA354391518	1109	V>L		No	ClinGen TOPMed
rs1298249521 CA354391539	1110	A>V		No	ClinGen gnomAD
CA83321675 rs1031272050	1112	P>S		No	ClinGen TOPMed
CA2593986 rs575343383	1113	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2593987 rs575343383	1113	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs745637235 CA2593989	1114	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2593988 rs745637235	1114	R>G		No	ClinGen ExAC TOPMed gnomAD
COSM1037859 rs545559492 CA2593990	1114	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs574274525 CA2593991	1115	S>G		No	ClinGen ExAC TOPMed gnomAD
CA2593992 rs768153165	1115	S>I		No	ClinGen ExAC gnomAD
rs1199885925 CA354391638	1116	P>Q		No	ClinGen gnomAD
rs267599595 CA2593994	1118	E>K		No	ClinGen ExAC
CA354391708 rs1257152708	1120	G>R		No	ClinGen gnomAD
CA2593997 rs759891798	1121	E>K		No	ClinGen ExAC TOPMed gnomAD
rs969533808 CA83321723	1122	R>Q		No	ClinGen Ensembl
CA2593998 rs765712162	1122	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2593999 rs144485621	1123	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA354391764 rs1465025574	1124	D>G		No	ClinGen TOPMed
rs764254170 CA2594001	1124	D>N		No	ClinGen ExAC gnomAD
CA2594002 rs751624740	1125	E>D		No	ClinGen ExAC gnomAD
CA354391779 rs1358009331	1125	E>G		No	ClinGen gnomAD
rs1355658631 CA354391838	1129	V>I		No	ClinGen gnomAD
rs1218342509 CA354391856	1130	M>T		No	ClinGen TOPMed
CA354391865 rs1559962563	1131	D>H		No	ClinGen Ensembl
rs750234990 CA2594005	1132	N>S		No	ClinGen ExAC gnomAD
COSM1172929 CA2594007 rs142400403	1133	V>M	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs199655040 CA2594010	1134	R>C		No	ClinGen ExAC TOPMed gnomAD
rs199655040 CA2594009	1134	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2594011 rs151338706	1134	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs151338706 CA2594012	1134	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1050872169 CA83321763	1135	S>T		No	ClinGen TOPMed
rs777456712 CA2594013	1136	L>P		No	ClinGen ExAC gnomAD
rs1488084571 CA354391934	1138	V>A		No	ClinGen gnomAD
rs1576684541 CA354391939	1139	L>F		No	ClinGen Ensembl
rs776195225 CA2594016	1140	N>K		No	ClinGen ExAC gnomAD
rs746257721 CA2594014	1140	N>S		No	ClinGen ExAC TOPMed gnomAD
rs746257721 CA2594015	1140	N>T		No	ClinGen ExAC TOPMed gnomAD
rs769246839 CA2594018	1142	T>A		No	ClinGen ExAC TOPMed gnomAD
CA354391966 rs769246839	1142	T>P		No	ClinGen ExAC TOPMed gnomAD
rs761931707 CA2594020	1143	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1576684565 CA354392023	1147	Y>S		No	ClinGen Ensembl
rs1051310028 CA83321812	1148	P>R		No	ClinGen Ensembl
CA354392043 rs1576684576	1149	D>A		No	ClinGen Ensembl
CA354392066 rs1210559319	1151	V>A		No	ClinGen gnomAD
rs1295967243 CA354392062	1151	V>I		No	ClinGen TOPMed gnomAD
rs1295967243 CA354392061	1151	V>L		No	ClinGen TOPMed gnomAD
CA354392074 rs1431959488	1152	L>R		No	ClinGen gnomAD
rs778769298 CA2594027	1154	P>L		No	ClinGen ExAC TOPMed gnomAD
rs529316847 CA2594026	1154	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2594028 rs551037715	1155	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1353097633 CA354392121	1157	P>H		No	ClinGen gnomAD
rs1304239176 CA354392120	1157	P>S		No	ClinGen TOPMed gnomAD
CA354392127 rs1238164812	1158	T>I		No	ClinGen gnomAD
rs1290271303 CA354392137	1160	L>V		No	ClinGen TOPMed
CA354392146 rs1216197348	1162	E>K		No	ClinGen gnomAD
rs770431584 CA2594032	1166	S>N		No	ClinGen ExAC gnomAD
rs1192861158 CA354392187	1168	P>A		No	ClinGen gnomAD
CA83321859 rs1015192555	1168	P>L		No	ClinGen TOPMed
rs1192861158 CA354392186	1168	P>S		No	ClinGen gnomAD
CA2594035 rs571589207	1170	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749622887 CA2594034	1170	I>N		No	ClinGen ExAC gnomAD
rs761868897 CA2594037	1172	K>R		No	ClinGen ExAC TOPMed gnomAD
rs371091022 CA2594061	1174	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1282669146 CA354392233	1174	R>Q		No	ClinGen gnomAD
rs371091022 CA2594060	1174	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs534076822 CA2594062	1177	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs775087816 CA2594063	1180	A>V		No	ClinGen ExAC TOPMed gnomAD
rs934395439 CA83322057	1182	G>D		No	ClinGen Ensembl
rs756796294 CA2594067	1182	G>S		No	ClinGen ExAC gnomAD
CA2594069 rs750090806	1183	N>K		No	ClinGen ExAC gnomAD
CA2594068 rs767345946	1183	N>S		No	ClinGen ExAC gnomAD
rs767345946 CA354392286	1183	N>T		No	ClinGen ExAC gnomAD
CA83322080 rs1052638843	1185	R>*		No	ClinGen Ensembl
CA354392304 rs1398623950	1187	N>H		No	ClinGen TOPMed
rs779427766 CA2594071	1187	N>S		No	ClinGen ExAC gnomAD
CA354392312 rs1576684796	1188	Y>H		No	ClinGen Ensembl
CA2594073 rs758963852	1189	T>M		No	ClinGen ExAC TOPMed gnomAD
rs778117692 CA2594074	1190	V>L		No	ClinGen ExAC gnomAD
rs747148568 CA354392336	1192	I>F		No	ClinGen ExAC TOPMed gnomAD
CA2594075 rs747148568	1192	I>V		No	ClinGen ExAC TOPMed gnomAD
rs146550621 CA2594077	1193	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs370477687 CA2594079	1194	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs370477687 CA2594078	1194	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2594080 rs141186886	1195	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs762634950 CA2594081	1196	P>L		No	ClinGen ExAC gnomAD
rs1022986917 CA83322197	1197	C>R		No	ClinGen Ensembl
rs774152563 CA354392374	1199	L>F		No	ClinGen ExAC TOPMed gnomAD
rs774152563 CA2594083	1199	L>V		No	ClinGen ExAC TOPMed gnomAD
CA354392378 rs1576684866	1200	T>P		No	ClinGen Ensembl
CA83322234 rs905413710	1201	V>A		No	ClinGen Ensembl
rs1457339072 CA354392384	1201	V>M		No	ClinGen TOPMed
rs749888480 CA2594086	1204	T>M		No	ClinGen ExAC TOPMed gnomAD
rs749888480 CA354392407	1204	T>R		No	ClinGen ExAC TOPMed gnomAD
rs765895940 CA2594088	1206	L>Q		No	ClinGen ExAC gnomAD
rs753152143 CA2594089	1209	E>K		No	ClinGen ExAC gnomAD
rs758654359 CA354392443	1210	A>E		No	ClinGen ExAC gnomAD
rs758654359 CA2594090	1210	A>V		No	ClinGen ExAC gnomAD
rs376159729 CA2594091	1212	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs376159729 CA354392455	1212	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs751995053 CA354392482	1216	Q>H		No	ClinGen ExAC gnomAD
CA2594094 rs146573469	1220	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2594115 rs201825290	1221	V>G		No	ClinGen ExAC gnomAD
rs145752838 CA83322730	1221	V>M		No	ClinGen ESP TOPMed gnomAD
CA354392596 rs750543374	1222	R>G		No	ClinGen ExAC TOPMed gnomAD
CA83322752 rs987143493	1222	R>Q		No	ClinGen TOPMed gnomAD
CA2594116 rs750543374	1222	R>W		No	ClinGen ExAC TOPMed gnomAD
CA354392610 rs1432443767	1223	A>E		No	ClinGen TOPMed gnomAD
rs1367477690 CA354392622	1224	G>D		No	ClinGen TOPMed
CA83322765 rs747216583	1225	G>D		No	ClinGen TOPMed
CA354392652 rs143549043	1226	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2594120 rs375219341	1227	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs368565319 CA83322819	1229	S>L		No	ClinGen ESP TOPMed gnomAD
rs1461950901 CA354392703	1230	P>L		No	ClinGen gnomAD
rs1330089516 CA354392710	1231	G>E		No	ClinGen gnomAD
CA2594125 rs760325735	1232	T>A		No	ClinGen ExAC gnomAD
rs776148514 CA83322843	1235	V>L		No	ClinGen ExAC TOPMed gnomAD
CA2594127 rs776148514	1235	V>M		No	ClinGen ExAC TOPMed gnomAD
rs759113558 CA2594128	1237	S>L		No	ClinGen ExAC TOPMed gnomAD
CA354392843 rs1336084828	1242	T>M		No	ClinGen gnomAD
CA2594130 rs774719190	1245	A>V		No	ClinGen ExAC gnomAD
rs1481673908 CA354392880	1246	I>V		No	ClinGen gnomAD
rs762135921 CA2594131	1249	I>T		No	ClinGen ExAC gnomAD
CA354392957 rs1185515766	1253	G>R		No	ClinGen gnomAD
rs375662846 CA2594134	1253	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2594136 rs539016754	1254	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354392981 rs1463096456	1256	L>P		No	ClinGen gnomAD
CA2594140 rs758259139	1259	V>I		No	ClinGen ExAC TOPMed gnomAD
CA83322922 rs1019556332	1260	I>M		No	ClinGen TOPMed gnomAD
CA2594141 rs777913150	1261	V>L		No	ClinGen ExAC TOPMed gnomAD
rs777913150 CA354393004	1261	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2594142 rs143582972	1262	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1576685315 CA354393017	1263	V>G		No	ClinGen Ensembl
rs745333567 CA2594145	1265	I>F		No	ClinGen ExAC gnomAD
rs367863014 CA83322963	1266	A>S		No	ClinGen ESP ExAC gnomAD
rs367863014 CA2594147	1266	A>T		No	ClinGen ESP ExAC gnomAD
rs979881860 CA83322968	1267	Y>C		No	ClinGen Ensembl
CA2594149 rs767883494 COSM1670537	1269	R>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs938208545 CA83322991	1272	R>*		No	ClinGen Ensembl
rs761120750 CA2594151	1272	R>P		No	ClinGen ExAC gnomAD
CA354393131 rs1255567544	1274	A>T		No	ClinGen gnomAD
CA83323018 rs1000962009	1276	R>C		No	ClinGen TOPMed gnomAD
rs753918103 CA2594153	1276	R>H		No	ClinGen ExAC gnomAD
CA2594156 rs752951132	1278	L>H		No	ClinGen ExAC gnomAD
rs758632685 CA2594157	1279	K>N		No	ClinGen ExAC gnomAD
CA83323067 rs754446783	1280	R>Q		No	ClinGen Ensembl
rs777713141 CA2594158	1280	R>W		No	ClinGen ExAC TOPMed gnomAD
rs745437113 CA2594162	1284	Q>K		No	ClinGen ExAC gnomAD
CA83323102 rs776587630	1286	D>N		No	ClinGen Ensembl
rs1345836772 CA354393353	1291	R>H		No	ClinGen gnomAD
rs748945150 CA2594165	1294	L>V		No	ClinGen ExAC TOPMed gnomAD
CA354394363 rs1215492451	1300	F>L		No	ClinGen gnomAD
CA354394536 rs1476432509	1312	N>S		No	ClinGen gnomAD
CA83324680 rs901517767	1312	N>Y		No	ClinGen TOPMed
CA354394552 rs993088571	1313	D>E		No	ClinGen TOPMed gnomAD
CA2594196 rs750147010 COSM1037869	1316	G>S	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2594197 rs756070195	1317	A>T		No	ClinGen ExAC TOPMed gnomAD
CA83324713 rs868678696	1318	G>D		No	ClinGen Ensembl
rs984899941 CA354394610	1319	I>M		No	ClinGen TOPMed gnomAD
rs910229522 CA83324728	1325	R>Q		No	ClinGen TOPMed gnomAD
rs1292377039 CA354394689	1325	R>W		No	ClinGen gnomAD
rs753390294 CA2594199	1326	T>S		No	ClinGen ExAC gnomAD
rs754484385 CA2594200	1327	Y>H		No	ClinGen ExAC gnomAD
rs150756697 CA83324769	1336	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA354394851 rs1438041563	1337	E>K		No	ClinGen gnomAD
rs1041891116 CA83324787	1345	M>I		No	ClinGen TOPMed gnomAD
CA354394970 rs1467726566	1345	M>L		No	ClinGen TOPMed
rs781641608 CA2594204	1346	E>Q		No	ClinGen ExAC gnomAD
CA2594232 rs748156852	1347	V>L		No	ClinGen ExAC gnomAD
CA354395930 rs1326460779	1349	A>T		No	ClinGen gnomAD
rs1434515127 CA354395947	1350	N>S		No	ClinGen gnomAD
CA83326601 rs568444014	1352	E>K		No	ClinGen 1000Genomes
CA83326610 rs568444014	1352	E>Q		No	ClinGen 1000Genomes
CA2594233 rs772380853	1354	S>L		No	ClinGen ExAC TOPMed gnomAD
CA354396011 rs1260451040	1358	F>L		No	ClinGen TOPMed gnomAD
rs766170133 CA2594236	1359	G>R		No	ClinGen ExAC TOPMed gnomAD
rs766170133 CA354396015	1359	G>R		No	ClinGen ExAC TOPMed gnomAD
CA354396081 rs1468463922	1364	K>N		No	ClinGen gnomAD
CA354396109 rs1191812272	1366	H>P		No	ClinGen gnomAD
CA83326660 rs1044905824	1372	I>F		No	ClinGen TOPMed
CA2594239 rs765033781	1373	R>C		No	ClinGen ExAC gnomAD
rs752299650 CA2594240	1373	R>H		No	ClinGen ExAC gnomAD
CA354396201 rs1181374957	1374	T>M		No	ClinGen TOPMed gnomAD
rs376356302 CA2594242	1377	A>T		No	ClinGen ESP ExAC gnomAD
CA2594244 rs756904268	1378	Q>H		No	ClinGen ExAC gnomAD
CA2594243 rs751244010	1378	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs780597965 CA2594245	1379	R>H		No	ClinGen ExAC TOPMed gnomAD
CA354396322 rs1396053763	1383	M>I		No	ClinGen gnomAD
rs368240880 CA2594246 COSM1221245	1384	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs368240880 CA354396327	1384	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1463009675 CA354396347	1385	D>G		No	ClinGen TOPMed
rs1333664724 CA354396338	1385	D>N		No	ClinGen gnomAD
rs748329496 CA2594250	1386	R>C		No	ClinGen ExAC gnomAD
rs748329496 CA2594249	1386	R>G		No	ClinGen ExAC gnomAD
rs1559964225 CA354396356	1386	R>H		No	ClinGen Ensembl
rs1576687554 CA354396373	1387	G>E		No	ClinGen Ensembl
CA354396375 rs1187528635	1388	N>H		No	ClinGen TOPMed
rs1253989899 CA354396416	1390	A>V		No	ClinGen TOPMed
CA354396428 rs1275067193	1391	S>L		No	ClinGen TOPMed gnomAD
rs775284582 CA2594257	1395	T>M		No	ClinGen ExAC gnomAD
rs769808781 CA2594256	1395	T>S		No	ClinGen ExAC gnomAD
CA354396497 rs1227904060	1397	L>P		No	ClinGen TOPMed
rs1474808924 CA354396537	1400	E>V		No	ClinGen gnomAD
CA354396573 rs1162736983	1403	Y>H		No	ClinGen gnomAD
CA2594259 rs763701908	1404	A>T		No	ClinGen ExAC gnomAD
CA2594262 rs761581162	1406	G>A		No	ClinGen ExAC TOPMed gnomAD
CA2594261 rs761581162	1406	G>D		No	ClinGen ExAC TOPMed gnomAD
CA2594263 rs73196567	1407	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758868486 CA2594267	1411	L>Q		No	ClinGen ExAC
CA83326809 rs865937202	1413	S>F		No	ClinGen Ensembl
CA354396704 rs1226750546	1414	D>N		No	ClinGen gnomAD
CA2594270 rs771189491	1416	I>T		No	ClinGen ExAC gnomAD
CA2594271 rs146629329	1417	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA354396746 rs1477206038	1418	K>R		No	ClinGen TOPMed
rs745741586 CA2594272	1419	N>S		No	ClinGen ExAC gnomAD
rs1246559795 CA354396781	1423	K>R		No	ClinGen TOPMed
CA354396796 rs1576687673	1425	H>P		No	ClinGen Ensembl
rs1185582084 CA354396803	1426	P>S		No	ClinGen gnomAD
CA354396814 rs1243485849	1427	K>N		No	ClinGen gnomAD
rs1319833116 CA354396811	1427	K>R		No	ClinGen gnomAD
CA83326844 rs907957777	1431	R>C		No	ClinGen TOPMed gnomAD
CA354396839 rs1424388701	1432	R>Q		No	ClinGen gnomAD
CA354396864 rs1234564782	1434	E>D		No	ClinGen TOPMed
CA354396871 COSM1037873 rs1364747851	1435	S>L	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs749086573 CA2594295	1437	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1236773653 CA354396917	1442	T>S		No	ClinGen gnomAD
rs1219126482 CA354396970	1449	L>F		No	ClinGen TOPMed
rs1310399939 CA354396976	1450	Y>C		No	ClinGen TOPMed
CA354396972 rs1312579273	1450	Y>H		No	ClinGen TOPMed gnomAD
rs747715254 CA2594298	1452	F>L		No	ClinGen ExAC
rs772496308 CA2594367	1455	E>D		No	ClinGen ExAC gnomAD
rs1576690780 CA354398529	1456	C>G		No	ClinGen Ensembl
rs759618516 CA83335144	1457	A>P		No	ClinGen ExAC TOPMed gnomAD
rs759618516 CA2594369	1457	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1441489668 CA354398601	1460	P>R		No	ClinGen TOPMed
rs1230734546 CA354398646	1463	M>I		No	ClinGen gnomAD
rs1448263989 CA354398651	1464	L>V		No	ClinGen TOPMed gnomAD
CA354398717 rs1559966043	1467	A>T		No	ClinGen Ensembl
CA354398840 rs1280096592	1473	E>K		No	ClinGen TOPMed
rs1195456566 CA354398889	1477	I>T		No	ClinGen gnomAD
rs1481967709 CA354398906	1479	A>T		No	ClinGen TOPMed gnomAD
rs757241654 CA2594378	1481	T>M		No	ClinGen ExAC TOPMed gnomAD
CA83335186 rs777712821	1485	R>H		No	ClinGen TOPMed gnomAD
rs1341285982 CA354398981	1486	Y>C		No	ClinGen TOPMed
CA2594380 rs750001787	1491	D>E		No	ClinGen ExAC gnomAD
rs1166998134 CA354399062	1492	K>Q		No	ClinGen gnomAD
CA354399112 rs1412036008	1495	R>Q		No	ClinGen TOPMed gnomAD
rs1309077962 CA354399157	1498	I>T		No	ClinGen gnomAD
rs779480272 CA2594382	1499	D>G		No	ClinGen ExAC gnomAD
rs1298613591 CA354399199 COSM727646	1500	Y>*	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs944747353 CA83335428	1504	T>I		No	ClinGen Ensembl
CA2594406 rs746383108	1506	N>Y		No	ClinGen ExAC gnomAD
CA354399367 rs1394813165	1507	C>Y		No	ClinGen gnomAD
CA354399381 rs1431771861	1508	V>M		No	ClinGen gnomAD
rs770387484 CA2594407	1509	N>K		No	ClinGen ExAC gnomAD
rs775662123 CA2594408	1513	E>K		No	ClinGen ExAC gnomAD
rs1453679596 CA354399482	1514	N>K		No	ClinGen TOPMed gnomAD
CA354399498 rs1318559119	1515	A>E		No	ClinGen gnomAD
rs768988256 CA2594410	1519	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2594411 rs768988256	1519	P>R		No	ClinGen ExAC TOPMed gnomAD
CA354399554 rs1436041982	1519	P>S		No	ClinGen gnomAD
CA354399566 rs1452723402	1520	V>E		No	ClinGen TOPMed
CA2594413 rs771857759	1524	D>Y		No	ClinGen ExAC
CA354399645 rs1312630408	1527	T>M		No	ClinGen gnomAD
rs760625257 CA2594415	1533	E>A		No	ClinGen ExAC gnomAD
CA354399712 rs1208851624	1533	E>D		No	ClinGen gnomAD
rs766277718 CA2594417	1537	D>E		No	ClinGen ExAC gnomAD
CA2594418 rs758968362	1538	A>T		No	ClinGen ExAC gnomAD
CA83335517 rs905040158	1539	A>G		No	ClinGen gnomAD
rs1036487971 CA83335526	1543	V>A		No	ClinGen TOPMed gnomAD
rs140504052 CA83335525	1543	V>M		No	ClinGen ESP TOPMed gnomAD
CA354399861 rs1348751486	1548	R>Q		No	ClinGen gnomAD
rs758060819 CA354399860	1548	R>W		No	ClinGen ExAC gnomAD
CA2594422 rs781714731	1549	P>T		No	ClinGen ExAC gnomAD
rs780420538 CA2594425	1550	K>M		No	ClinGen ExAC gnomAD
rs150420289 CA354399903	1552	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs768630722 CA83335568	1552	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2594427 rs768630722	1552	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2594428 rs150420289	1552	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA354399913 rs1167702446	1553	D>A		No	ClinGen TOPMed
CA2594430 rs772230104	1554	M>I		No	ClinGen ExAC gnomAD
rs755484025 CA2594462	1558	W>*		No	ClinGen ExAC gnomAD
rs373357351 CA2594461	1558	W>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs765698174 CA2594463	1559	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2594464 rs752837846	1559	R>H		No	ClinGen ExAC gnomAD
CA2594465 rs758463486	1562	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2594466 rs777776780	1562	R>H		No	ClinGen ExAC gnomAD
rs1391064907 CA354400078	1563	M>I		No	ClinGen gnomAD
rs1358214402 CA354400069	1563	M>V		No	ClinGen TOPMed gnomAD
rs1475607934 CA354400085	1564	A>T		No	ClinGen gnomAD
CA2594468 rs200721943	1564	A>V		No	ClinGen ExAC TOPMed gnomAD
rs745655858 CA2594470	1565	R>C		No	ClinGen ExAC TOPMed gnomAD
rs142147514 CA2594471	1565	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs142147514 CA354400095	1565	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA354400153 rs1365535105	1571	E>K		No	ClinGen gnomAD
rs767172719 CA2594477	1573	V>A		No	ClinGen ExAC gnomAD
CA2594476 rs761392796	1573	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1335739492 CA354400212	1577	I>T		No	ClinGen TOPMed
rs762142920 CA354400225	1579	N>D		No	ClinGen gnomAD
rs1433530264 CA354400227	1579	N>S		No	ClinGen TOPMed gnomAD
CA83336346 rs762142920	1579	N>Y		No	ClinGen gnomAD
rs1559966489 CA354400233	1580	D>N		No	ClinGen Ensembl
CA354400251 rs1559966493	1581	W>L		No	ClinGen Ensembl
CA2594479 rs562680288	1583	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA83336764 rs1018227345	1592	V>M		No	ClinGen Ensembl
rs761950168 CA2594504	1595	G>R		No	ClinGen ExAC TOPMed gnomAD
rs201832587 CA2594505	1597	S>L		No	ClinGen ExAC TOPMed gnomAD
rs756362804 CA2594507	1600	L>V		No	ClinGen ExAC gnomAD
rs199503214 CA2594509	1603	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA2594510 rs755002084	1605	T>A		No	ClinGen ExAC gnomAD
CA2594511 rs778901033	1605	T>M		No	ClinGen ExAC gnomAD
CA2594514 rs777083095	1607	A>T		No	ClinGen ExAC TOPMed gnomAD
rs746708526 CA2594515	1608	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA354400569 rs1168294368	1609	N>H		No	ClinGen gnomAD
rs1432123115 CA354400588	1610	I>T		No	ClinGen gnomAD
rs775884815 CA2594517	1611	S>A		No	ClinGen ExAC TOPMed gnomAD
rs1402176857 CA354400619	1613	S>F		No	ClinGen gnomAD
CA83336873 rs945687076	1617	T>I		No	ClinGen Ensembl
CA354400719 rs1476094478	1623	Y>H		No	ClinGen TOPMed
CA83336883 rs770051854	1624	E>K		No	ClinGen gnomAD
rs1265700234 CA354401179	1625	S>G		No	ClinGen gnomAD
rs1216092887 CA354401213	1628	R>C		No	ClinGen gnomAD
rs1265186462 CA354401214	1628	R>H		No	ClinGen gnomAD
rs929779049 CA354401221	1629	T>A		No	ClinGen TOPMed gnomAD
CA2594559 rs559668482	1629	T>M		No	ClinGen ExAC TOPMed gnomAD
rs929779049 CA83337408	1629	T>S		No	ClinGen TOPMed gnomAD
CA2594561 rs771135879	1630	A>T		No	ClinGen ExAC gnomAD
rs1576692369 CA354401241	1631	S>G		No	ClinGen Ensembl
CA354401243 rs1180034835	1631	S>N		No	ClinGen gnomAD
rs147504334 CA2594563	1635	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA83337427 rs937053151	1637	R>C		No	ClinGen TOPMed
rs1348404075 CA354401306	1637	R>H		No	ClinGen gnomAD
CA354401307 rs1348404075	1637	R>P		No	ClinGen gnomAD
rs765359061 CA2594564	1638	S>L		No	ClinGen ExAC gnomAD
rs1409146622 COSM1744132 CA354401324	1639	R>C	biliary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
CA2594566 rs762651449 COSM1418683	1639	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA83337441 rs757084965	1640	T>M		No	ClinGen Ensembl
rs757120373 CA2594569	1644	T>A		No	ClinGen ExAC gnomAD
rs767034701 CA2594570	1644	T>M		No	ClinGen ExAC gnomAD
rs779567871 CA2594573	1646	D>H		No	ClinGen ExAC TOPMed gnomAD
CA354401392 rs779567871	1646	D>N		No	ClinGen ExAC TOPMed gnomAD
CA354401437 rs1411895465	1650	G>S		No	ClinGen gnomAD
CA2594576 rs778214579	1652	K>R		No	ClinGen ExAC gnomAD
rs747547965 CA2594577	1653	L>V		No	ClinGen ExAC gnomAD
rs568332549 CA83337493	1654	W>R		No	ClinGen Ensembl
rs771518144 CA2594578	1655	H>R		No	ClinGen ExAC gnomAD
rs1306075362 CA354401507	1657	V>L		No	ClinGen gnomAD
rs1446121787 CA354401569	1661	D>E		No	ClinGen gnomAD
CA2594581 rs770125385	1661	D>N		No	ClinGen ExAC TOPMed gnomAD
CA354401623 rs1308046539	1666	R>C		No	ClinGen TOPMed gnomAD
CA354401627 rs1376445068	1666	R>H		No	ClinGen gnomAD
rs1316116643 CA354401650	1668	G>S		No	ClinGen gnomAD
CA2594582 rs775562446	1668	G>V		No	ClinGen ExAC gnomAD
rs747055814 CA2594583	1670	R>C		No	ClinGen ExAC gnomAD
CA2594584 rs768445451	1670	R>H		No	ClinGen ExAC TOPMed gnomAD
rs761786021 CA2594586	1671	G>S		No	ClinGen ExAC TOPMed gnomAD
CA354401711 rs1454868214	1673	K>N		No	ClinGen TOPMed
CA83337536 rs763992863	1674	M>L		No	ClinGen Ensembl
CA354401719 rs1576692524	1674	M>T		No	ClinGen Ensembl
CA354401736 rs1576692531	1675	V>G		No	ClinGen Ensembl
CA354401727 rs1235822822	1675	V>I		No	ClinGen gnomAD
CA2594587 rs767410429	1676	S>L		No	ClinGen ExAC TOPMed gnomAD
CA83337548 rs901257549	1682	R>Q		No	ClinGen gnomAD
CA2594589 rs760086877	1682	R>W		No	ClinGen ExAC TOPMed gnomAD
CA354401837 rs1410475142	1684	L>M		No	ClinGen TOPMed gnomAD
rs1205501087 CA354401851	1685	A>S		No	ClinGen TOPMed gnomAD
CA354402181 rs1471458213	1696	D>N		No	ClinGen TOPMed
rs1576692711 CA354402253	1700	T>P		No	ClinGen Ensembl
CA354402273 rs1345920687	1701	I>V		No	ClinGen TOPMed gnomAD
CA2594621 rs755258581	1704	T>M		No	ClinGen ExAC gnomAD
rs1576692734 CA354402368	1706	H>P		No	ClinGen Ensembl
rs1473747021 CA354402363	1706	H>Y		No	ClinGen TOPMed
rs576660112 CA2594623	1707	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1447339260 CA354402382	1707	R>W		No	ClinGen TOPMed gnomAD
rs1481381871 CA354402429	1710	A>V		No	ClinGen gnomAD
CA354402464 rs1410617543	1712	P>L		No	ClinGen gnomAD
rs776047301 CA2594628	1715	I>V		No	ClinGen ExAC gnomAD
CA2594629 rs759116148	1718	M>I		No	ClinGen ExAC gnomAD
rs1367941280 CA354402588	1720	D>N		No	ClinGen gnomAD
rs775295403 CA2594631	1722	L>P		No	ClinGen ExAC gnomAD
rs1288128288 CA354402635	1722	L>V		No	ClinGen TOPMed
rs200487603 CA83337783	1724	E>D		No	ClinGen gnomAD
CA354402767 rs1241333627	1726	A>G		No	ClinGen gnomAD
CA2594632 rs762629059	1726	A>T		No	ClinGen ExAC gnomAD
CA2594635 rs565541810	1727	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354402810 rs1400150612	1728	K>E		No	ClinGen Ensembl
CA83337800 rs935829028	1729	H>L		No	ClinGen Ensembl
rs1447449284 CA354402828	1729	H>N		No	ClinGen TOPMed
rs767178119 CA83337802	1731	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1322758691 CA354402899	1732	H>Y		No	ClinGen TOPMed
CA354402922 rs1387566288	1733	D>N		No	ClinGen TOPMed
CA354402978 rs1416770783	1736	V>M		No	ClinGen TOPMed gnomAD
COSM1037885 rs1183432262 CA354402990	1737	R>C	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs778893752 CA2594639	1737	R>H		No	ClinGen ExAC TOPMed gnomAD
rs758563858 CA2594641	1742	S>N		No	ClinGen ExAC gnomAD
rs778054825 CA2594661	1748	R>H		No	ClinGen ExAC gnomAD
rs757092586 CA2594663	1753	V>M		No	ClinGen ExAC gnomAD
CA2594664 rs780784379	1758	Q>R		No	ClinGen ExAC gnomAD
CA2594666 rs576910185	1762	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA2594667 rs534676304	1763	I>T		No	ClinGen 1000Genomes ExAC
CA354403866 rs1296030007	1766	N>S		No	ClinGen TOPMed
rs1288029584 CA354403901	1771	A>S		No	ClinGen gnomAD
CA354403918 rs1383755329	1773	L>F		No	ClinGen gnomAD
CA2594671 COSM1037889 rs761304812	1774	S>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA354403951 rs1576694208	1779	T>P		No	ClinGen Ensembl
rs760083466 CA2594674	1785	S>F		No	ClinGen ExAC
CA354404057 rs1323747313	1794	D>H		No	ClinGen gnomAD
rs1382723311 CA354404059	1794	D>V		No	ClinGen TOPMed gnomAD
CA2594675 rs574660659	1797	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1176016518 CA354404078	1797	S>Y		No	ClinGen TOPMed
CA354404116 rs1461060100	1803	A>T		No	ClinGen Ensembl
rs764023589 CA2594678	1808	N>S		No	ClinGen ExAC gnomAD
rs1201614515 CA354404162	1809	Y>C		No	ClinGen gnomAD
CA354404177 rs1430110009	1811	S>N		No	ClinGen TOPMed gnomAD
rs746248245 CA83340152	1812	W>C		No	ClinGen Ensembl
rs1157162401 CA354404201	1814	E>V		No	ClinGen TOPMed gnomAD
CA2594700 rs367646949	1821	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs755983670 CA2594701	1821	A>V		No	ClinGen ExAC gnomAD
rs1202450098 CA354404340	1823	M>L		No	ClinGen TOPMed gnomAD
CA354404338 rs1202450098	1823	M>V		No	ClinGen TOPMed gnomAD
rs766207106 CA2594702	1824	P>S		No	ClinGen ExAC gnomAD
CA2594704 rs754822730	1831	M>L		No	ClinGen ExAC
CA2594705 rs201094581 COSM1037893	1832	S>N	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1442534646 CA354404485	1833	A>T		No	ClinGen gnomAD
rs564497912 CA2594706	1833	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2594708 rs777392995	1840	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1442362447 CA354404596	1842	H>N		No	ClinGen gnomAD
rs1335657372 CA354404612	1843	L>P		No	ClinGen gnomAD
CA354404619 rs1193693703	1844	S>N		No	ClinGen TOPMed
rs1454850564 CA354404628	1845	Q>*		No	ClinGen gnomAD
CA2594711 rs775792528	1845	Q>H		No	ClinGen ExAC
rs1454850564 CA354404626	1845	Q>K		No	ClinGen gnomAD
rs1316182358 CA354404676	1847	N>S		No	ClinGen gnomAD
CA354404717 rs1213354615	1849	M>I		No	ClinGen gnomAD
rs1213354615 CA354404713	1849	M>I		No	ClinGen gnomAD
rs749828108 CA2594712	1849	M>L		No	ClinGen ExAC gnomAD
rs1203181228 CA354404746	1851	A>D		No	ClinGen TOPMed gnomAD
CA354404743 rs1308132793	1851	A>T		No	ClinGen gnomAD
rs1203181228 CA354404748	1851	A>V		No	ClinGen TOPMed gnomAD
CA354404787 rs993511646	1853	H>Q		No	ClinGen TOPMed gnomAD
CA354404792 rs1185141553	1854	E>K		No	ClinGen TOPMed gnomAD
CA354404853 rs1475020718	1857	S>T		No	ClinGen gnomAD
CA2594714 rs774533360	1858	Y>C		No	ClinGen ExAC gnomAD
CA354404881 rs1355260453	1858	Y>H		No	ClinGen TOPMed
CA354404922 rs1421634426	1859	I>V		No	ClinGen gnomAD
rs767644347 CA2594716	1860	T>A		No	ClinGen ExAC TOPMed gnomAD
rs149838873 CA354404954	1861	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA354405001 rs369849074	1863	K>N		No	ClinGen ESP TOPMed gnomAD
rs369849074 CA83340534	1863	K>N		No	ClinGen ESP TOPMed gnomAD
CA354405380 rs1221798731	1869	A>T		No	ClinGen gnomAD
rs1286107470 CA354405399	1871	E>K		No	ClinGen gnomAD
rs866183492 CA83341556	1873	D>G		No	ClinGen Ensembl
rs1221608642 CA354405448	1875	Q>K		No	ClinGen gnomAD
rs1576695177 CA354405460	1875	Q>R		No	ClinGen Ensembl
CA2594741 rs569026320	1876	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA2594743 rs144688057	1877	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs769365696 CA83341561	1877	R>W		No	ClinGen TOPMed gnomAD
rs142886279 CA2594746	1878	R>Q		No	ClinGen ESP ExAC gnomAD
CA2594747 rs754288921	1879	Q>E		No	ClinGen ExAC gnomAD
rs755300042 CA354405503	1880	R>P		No	ClinGen ExAC TOPMed gnomAD
rs755300042 CA2594748	1880	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1368078128 CA354405501 COSM1418684	1880	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA354405521 rs748684405	1882	R>L		No	ClinGen ExAC TOPMed gnomAD
CA2594750 rs748684405	1882	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2594749 rs779294348	1882	R>W		No	ClinGen ExAC TOPMed gnomAD
CA354405585 rs1280396649	1887	Q>H		No	ClinGen gnomAD
rs1421309477 CA354405588	1888	V>M		No	ClinGen TOPMed
rs1354118009 CA354405614	1890	D>A		No	ClinGen gnomAD
rs896242925 CA83341592	1891	T>M		No	ClinGen TOPMed gnomAD
CA354405623 rs1480449619	1891	T>S		No	ClinGen TOPMed
CA354405655 rs1267088984	1893	A>V		No	ClinGen TOPMed
CA2594754 rs771241591	1894	L>P		No	ClinGen ExAC TOPMed gnomAD
CA83341608 rs1021052824	1895	S>G		No	ClinGen TOPMed
rs1209859378 CA354405669	1895	S>N		No	ClinGen gnomAD
rs1249237522 CA354405685	1896	S>I		No	ClinGen gnomAD
CA354405693 rs1435675282	1897	S>S		No	ClinGen gnomAD

No associated diseases with Q9UIW2

5 regional properties for Q9UIW2

Type	Name	Position	InterPro Accession
domain	Helicase, C-terminal domain-like	385 - 539	IPR001650
domain	DEAD/DEAH box helicase domain	170 - 349	IPR011545
domain	Helicase superfamily 1/2, ATP-binding domain	165 - 376	IPR014001
domain	RNA helicase, DEAD-box type, Q motif	146 - 174	IPR014014
domain	Ded1/Dbp1, DEAD-box helicase domain	147 - 367	IPR044763

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein
PANTHER Family	PTHR22625	PLEXIN
PANTHER Subfamily	PTHR22625:SF35	PLEXIN-A1
PANTHER Protein Class	transmembrane signal receptor
PANTHER Pathway Category	Axon guidance mediated by semaphorins PlexinA1

6 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.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
semaphorin receptor complex	A stable binary complex of a neurophilin and a plexin, together forming a functional semaphorin receptor.

1 GO annotations of molecular function

Name	Definition
semaphorin receptor activity	Combining with a semaphorin, and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity.

9 GO annotations of biological process

Name	Definition
dichotomous subdivision of terminal units involved in salivary gland branching	The process in which a salivary epithelial cord bifurcates at its end.
negative regulation of cell adhesion	Any process that stops, prevents, or reduces the frequency, rate or extent of cell adhesion.
neuron projection extension	Long distance growth of a single neuron projection involved in cellular development. A neuron projection is a prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
positive regulation of axonogenesis	Any process that activates or increases the frequency, rate or extent of axonogenesis.
regulation of cell migration	Any process that modulates the frequency, rate or extent of cell migration.
regulation of cell shape	Any process that modulates the surface configuration of a cell.
regulation of GTPase activity	Any process that modulates the rate of GTP hydrolysis by a GTPase.
regulation of smooth muscle cell migration	Any process that modulates the frequency, rate or extent of smooth muscle cell migration.
semaphorin-plexin signaling pathway involved in axon guidance	Any semaphorin-plexin signaling pathway that is involved in axon guidance.

27 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q769I5	MET	Hepatocyte growth factor receptor	Bos taurus (Bovine)	PR
A0M8S8	MET	Hepatocyte growth factor receptor	Felis catus (Cat) (Felis silvestris catus)	PR
Q04912	MST1R	Macrophage-stimulating protein receptor	Homo sapiens (Human)	EV
P08581	MET	Hepatocyte growth factor receptor	Homo sapiens (Human)	EV
O15031	PLXNB2	Plexin-B2	Homo sapiens (Human)	SS
P51805	PLXNA3	Plexin-A3	Homo sapiens (Human)	SS
Q9ULL4	PLXNB3	Plexin-B3	Homo sapiens (Human)	SS
O75051	PLXNA2	Plexin-A2	Homo sapiens (Human)	SS
O43157	PLXNB1	Plexin-B1	Homo sapiens (Human)	EV SS
Q9HCM2	PLXNA4	Plexin-A4	Homo sapiens (Human)	SS
Q9QY40	Plxnb3	Plexin-B3	Mus musculus (Mouse)	SS
P70208	Plxna3	Plexin-A3	Mus musculus (Mouse)	EV SS
Q3UH93	Plxnd1	Plexin-D1	Mus musculus (Mouse)	SS
P70207	Plxna2	Plexin-A2	Mus musculus (Mouse)	SS
Q62190	Mst1r	Macrophage-stimulating protein receptor	Mus musculus (Mouse)	SS
B2RXS4	Plxnb2	Plexin-B2	Mus musculus (Mouse)	SS
Q8CJH3	Plxnb1	Plexin-B1	Mus musculus (Mouse)	SS
Q9QZC2	Plxnc1	Plexin-C1	Mus musculus (Mouse)	SS
Q80UG2	Plxna4	Plexin-A4	Mus musculus (Mouse)	SS
P16056	Met	Hepatocyte growth factor receptor	Mus musculus (Mouse)	PR
P70206	Plxna1	Plexin-A1	Mus musculus (Mouse)	EV SS
Q2QLE0	MET	Hepatocyte growth factor receptor	Sus scrofa (Pig)	PR
P97523	Met	Hepatocyte growth factor receptor	Rattus norvegicus (Rat)	PR
D3ZPX4	Plxna3	Plexin-A3	Rattus norvegicus (Rat)	SS
D3ZLH5	Plxnb3	Plexin-B3	Rattus norvegicus (Rat)	SS
Q6BEA0	plxna4	Plexin-A4	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
B0S5N4	plxna3	Plexin A3	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MPLPPRSLQV	LLLLLLLLLL	LPGMWAEAGL	PRAGGGSQPP	FRTFSASDWG	LTHLVVHEQT
70	80	90	100	110	120
GEVYVGAVNR	IYKLSGNLTL	LRAHVTGPVE	DNEKCYPPPS	VQSCPHGLGS	TDNVNKLLLL
130	140	150	160	170	180
DYAANRLLAC	GSASQGICQF	LRLDDLFKLG	EPHHRKEHYL	SSVQEAGSMA	GVLIAGPPGQ
190	200	210	220	230	240
GQAKLFVGTP	IDGKSEYFPT	LSSRRLMANE	EDADMFGFVY	QDEFVSSQLK	IPSDTLSKFP
250	260	270	280	290	300
AFDIYYVYSF	RSEQFVYYLT	LQLDTQLTSP	DAAGEHFFTS	KIVRLCVDDP	KFYSYVEFPI
310	320	330	340	350	360
GCEQAGVEYR	LVQDAYLSRP	GRALAHQLGL	AEDEDVLFTV	FAQGQKNRVK	PPKESALCLF
370	380	390	400	410	420
TLRAIKEKIK	ERIQSCYRGE	GKLSLPWLLN	KELGCINSPL	QIDDDFCGQD	FNQPLGGTVT
430	440	450	460	470	480
IEGTPLFVDK	DDGLTAVAAY	DYRGRTVVFA	GTRSGRIRKI	LVDLSNPGGR	PALAYESVVA
490	500	510	520	530	540
QEGSPILRDL	VLSPNHQYLY	AMTEKQVTRV	PVESCVQYTS	CELCLGSRDP	HCGWCVLHSI
550	560	570	580	590	600
CSRRDACERA	DEPQRFAADL	LQCVQLTVQP	RNVSVTMSQV	PLVLQAWNVP	DLSAGVNCSF
610	620	630	640	650	660
EDFTESESVL	EDGRIHCRSP	SAREVAPITR	GQGDQRVVKL	YLKSKETGKK	FASVDFVFYN
670	680	690	700	710	720
CSVHQSCLSC	VNGSFPCHWC	KYRHVCTHNV	ADCAFLEGRV	NVSEDCPQIL	PSTQIYVPVG
730	740	750	760	770	780
VVKPITLAAR	NLPQPQSGQR	GYECLFHIPG	SPARVTALRF	NSSSLQCQNS	SYSYEGNDVS
790	800	810	820	830	840
DLPVNLSVVW	NGNFVIDNPQ	NIQAHLYKCP	ALRESCGLCL	KADPRFECGW	CVAERRCSLR
850	860	870	880	890	900
HHCAADTPAS	WMHARHGSSR	CTDPKILKLS	PETGPRQGGT	RLTITGENLG	LRFEDVRLGV
910	920	930	940	950	960
RVGKVLCSPV	ESEYISAEQI	VCEIGDASSV	RAHDALVEVC	VRDCSPHYRA	LSPKRFTFVT
970	980	990	1000	1010	1020
PTFYRVSPSR	GPLSGGTWIG	IEGSHLNAGS	DVAVSVGGRP	CSFSWRNSRE	IRCLTPPGQS
1030	1040	1050	1060	1070	1080
PGSAPIIINI	NRAQLTNPEV	KYNYTEDPTI	LRIDPEWSIN	SGGTLLTVTG	TNLATVREPR
1090	1100	1110	1120	1130	1140
IRAKYGGIER	ENGCLVYNDT	TMVCRAPSVA	NPVRSPPELG	ERPDELGFVM	DNVRSLLVLN
1150	1160	1170	1180	1190	1200
STSFLYYPDP	VLEPLSPTGL	LELKPSSPLI	LKGRNLLPPA	PGNSRLNYTV	LIGSTPCTLT
1210	1220	1230	1240	1250	1260
VSETQLLCEA	PNLTGQHKVT	VRAGGFEFSP	GTLQVYSDSL	LTLPAIVGIG	GGGGLLLLVI
1270	1280	1290	1300	1310	1320
VAVLIAYKRK	SRDADRTLKR	LQLQMDNLES	RVALECKEAF	AELQTDIHEL	TNDLDGAGIP
1330	1340	1350	1360	1370	1380
FLDYRTYAMR	VLFPGIEDHP	VLKEMEVQAN	VEKSLTLFGQ	LLTKKHFLLT	FIRTLEAQRS
1390	1400	1410	1420	1430	1440
FSMRDRGNVA	SLIMTALQGE	MEYATGVLKQ	LLSDLIEKNL	ESKNHPKLLL	RRTESVAEKM
1450	1460	1470	1480	1490	1500
LTNWFTFLLY	KFLKECAGEP	LFMLYCAIKQ	QMEKGPIDAI	TGEARYSLSE	DKLIRQQIDY
1510	1520	1530	1540	1550	1560
KTLTLNCVNP	ENENAPEVPV	KGLDCDTVTQ	AKEKLLDAAY	KGVPYSQRPK	AADMDLEWRQ
1570	1580	1590	1600	1610	1620
GRMARIILQD	EDVTTKIDND	WKRLNTLAHY	QVTDGSSVAL	VPKQTSAYNI	SNSSTFTKSL
1630	1640	1650	1660	1670	1680
SRYESMLRTA	SSPDSLRSRT	PMITPDLESG	TKLWHLVKNH	DHLDQREGDR	GSKMVSEIYL
1690	1700	1710	1720	1730	1740
TRLLATKGTL	QKFVDDLFET	IFSTAHRGSA	LPLAIKYMFD	FLDEQADKHQ	IHDADVRHTW
1750	1760	1770	1780	1790	1800
KSNCLPLRFW	VNVIKNPQFV	FDIHKNSITD	ACLSVVAQTF	MDSCSTSEHK	LGKDSPSNKL
1810	1820	1830	1840	1850	1860
LYAKDIPNYK	SWVERYYADI	AKMPAISDQD	MSAYLAEQSR	LHLSQFNSMS	ALHEIYSYIT
1870	1880	1890
KYKDEILAAL	EKDEQARRQR	LRSKLEQVVD	TMALSS