AiPD: Autoinhibited Protein Database

Q9ULL4

Gene name	PLXNB3 (KIAA1206, PLXN6)
Protein name	Plexin-B3
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5365
EC number
Protein Class

Descriptions

Plexins are a large family of cell surface receptors for the axon guidance molecules semaphorins. Semaphorin-plexin signaling is essential for the regulation of neuronal development and other processes. Dysfunction in plexin pathways has been implicated in various diseases including neurological disorders and cancer. <br> Plexins are transmembrane proteins with a multidomain extracellular region that contains an N-terminal Sema domain. Before semaphorin binding, Plexin is an inactive monomer or dimer in which the RapGAP activity is autoinhibited. Binding of semaphorin to the Sema domain of plexin leads to activation of its cytoplasmic region, which relays the signal to downstream pathways. Mouse Plexin-A3 (P70208) possesses a segment preceding C1 domain and RDB domain as autoinhibitory elements.

Autoinhibitory domains (AIDs)

20-471 (Sema domain) SS

Target domain	1327-1876 (Plexin, cytoplasmic RasGAP domain)
Relief mechanism	Partner binding
Assay

AID

20-471 (Sema domain)

Target domain

1327-1876 (Plexin, cytoplasmic RasGAP domain)

Relief mechanism

Partner binding (Semaphorin-induced dimerization)

Assay

1501-1620 (RBD domain) SS

Target domain	1327-1876 (Plexin, cytoplasmic RasGAP domain)
Relief mechanism	Partner binding
Assay

AID

1501-1620 (RBD domain)

Target domain

1327-1876 (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

1277-1357 (Segment preceding C1 domain) SS

Target domain	1327-1876 (Plexin, RasGAP domain)
Relief mechanism
Assay

AID

1277-1357 (Segment preceding C1 domain)

Target domain

1327-1876 (Plexin, RasGAP domain)

Relief mechanism

Assay

Accessory elements

No accessory elements

References

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

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

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

Autoinhibited structure

Activated structure

1 structures for Q9ULL4

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9ULL4-F1	Predicted				AlphaFoldDB

1783 variants for Q9ULL4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV002266657 rs2148413029	74	L>F	PLXNB3-related Intellectual disability [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs2091974044 RCV001262161	1425	T>N	Neurodevelopmental disorder [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs148960424 RCV000900405	1	M>V		No	ClinVar dbSNP
rs781805567	2	C>Y		No	1000Genomes ExAC TOPMed gnomAD
rs1168379326	3	H>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs782172672	4	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs2091847954	4	A>V		No	TOPMed gnomAD
rs1557058874	5	A>G		No	Ensembl
rs148108922	5	A>T		No	ESP ExAC TOPMed gnomAD
rs2091848053	6	Q>*		No	TOPMed
rs1175080153	7	E>K		No	1000Genomes TOPMed gnomAD
rs2091848099	9	P>L		No	Ensembl
rs1432873659	10	L>V		No	TOPMed gnomAD
rs1251342410	12	H>Y		No	TOPMed gnomAD
rs141960270	13	H>Q		No	ESP ExAC TOPMed gnomAD
rs1458228815	15	M>T		No	TOPMed gnomAD
rs1557059395	16	A>D		No	gnomAD
rs782125512	16	A>T		No	ExAC
rs1252299131	17	P>S		No	TOPMed gnomAD
rs368049202	18	V>M		No	ESP ExAC TOPMed gnomAD
rs2091864609	19	M>T		No	TOPMed
rs782457646	20	A>P		No	ExAC gnomAD
rs782457646	20	A>S		No	ExAC gnomAD
rs782457646	20	A>T		No	ExAC gnomAD
rs782666089	21	R>C		No	ExAC TOPMed gnomAD
rs782666089	21	R>G		No	ExAC TOPMed gnomAD
rs782221652	21	R>H		No	1000Genomes ExAC TOPMed gnomAD
rs1557059415	22	W>C		No	TOPMed gnomAD
rs782365591	26	G>R		No	1000Genomes ExAC TOPMed gnomAD
rs782365591	26	G>S		No	1000Genomes ExAC TOPMed gnomAD
rs35537879 RCV000967615	28	C>Y		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs372269937	31	L>M		No	1000Genomes ExAC TOPMed gnomAD
rs372269937	31	L>V		No	1000Genomes ExAC TOPMed gnomAD
rs1409696454	36	P>L		No	TOPMed gnomAD
rs1409696454	36	P>R		No	TOPMed gnomAD
rs1557059431	36	P>S		No	gnomAD
rs1175052764	37	P>L		No	TOPMed gnomAD
COSM1599037 COSM1117487	38	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs782381476	40	P>H		No	ExAC gnomAD
rs2091865430	42	T>A		No	Ensembl
rs781955125	43	G>R		No	ExAC TOPMed gnomAD
rs2091865488	44	A>V		No	Ensembl
rs782730265	45	H>L		No	ExAC
rs782730265	45	H>P		No	ExAC
rs782730265	45	H>R		No	ExAC
rs1557059438 COSM1117488 COSM1599036	46	R>C	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
TCGA novel	46	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1394011480	48	S>P		No	TOPMed gnomAD
rs782170598	49	A>T		No	ExAC gnomAD
rs782764739	52	T>I		No	ExAC gnomAD
COSM355754 rs991662331	54	L>F	lung [Cosmic]	No	cosmic curated TOPMed
COSM6186137 COSM6186138	60	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1233346105	61	P>L		No	TOPMed gnomAD
rs1435797206	62	G>D		No	TOPMed gnomAD
rs1203576071	62	G>S		No	TOPMed gnomAD
rs1557059469	63	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs202183031	63	R>Q		No	ExAC TOPMed gnomAD
rs1557059474	66	L>V		No	TOPMed gnomAD
rs950261484	67	Y>C		No	gnomAD
rs950261484	67	Y>F		No	gnomAD
rs2091866301	69	G>D		No	Ensembl
rs781795736	70	A>S		No	ExAC TOPMed
rs781795736	70	A>T		No	ExAC TOPMed
rs782292845	73	R>C		No	ExAC TOPMed gnomAD
rs782498132	73	R>H		No	ExAC TOPMed gnomAD
rs782570670 COSM5219431 COSM1490647	75	F>L	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC TOPMed gnomAD
COSM3759411 COSM3759412	76	Q>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs782212030	77	L>I		No	ExAC TOPMed gnomAD
rs139389280	80	E>K		No	ESP ExAC TOPMed gnomAD
rs781991732	84	E>K		No	ExAC gnomAD
rs781991732	84	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs782735815	85	A>T		No	ExAC TOPMed gnomAD
TCGA novel	85	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs147141867	86	V>M		No	ESP ExAC TOPMed gnomAD
rs2091866955	87	A>P		No	Ensembl
rs1486141388	92	V>A		No	TOPMed gnomAD
rs1208829849	94	D>N		No	TOPMed gnomAD
rs1557059503	97	D>A		No	TOPMed gnomAD
rs139449312	97	D>E		No	ESP
rs1557059503	97	D>G		No	TOPMed gnomAD
rs201281829	99	V>M		No	TOPMed
rs1223770494	100	P>S		No	TOPMed
rs144513627	102	R>C		No	ESP ExAC TOPMed gnomAD
rs148423464	102	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1354451731	105	A>V		No	TOPMed gnomAD
rs373948980	106	E>K		No	ESP ExAC TOPMed gnomAD
rs2091867466	107	C>Y		No	TOPMed
rs1557059521 COSM4825342 COSM4825341	109	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
TCGA novel	111	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1557059525	113	T>N		No	gnomAD
rs2091867642	120	L>R		No	Ensembl
rs2091867612	120	L>V		No	Ensembl
rs2091867744	122	V>L		No	TOPMed
rs1557059533	123	S>N		No	gnomAD
rs1398924090	125	R>C		No	TOPMed gnomAD
rs368428119	125	R>H		No	ESP ExAC TOPMed gnomAD
rs34360382 VAR_050601	126	A>T		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1257078950	127	Q>E		No	TOPMed
rs1741385319	130	V>G		No	TOPMed
rs781962004	130	V>L		No	ExAC TOPMed gnomAD
rs1032977318	132	C>*		No	TOPMed gnomAD
rs1215118708	133	G>R		No	TOPMed
rs1275542552	134	Q>E		No	TOPMed gnomAD
rs782237640	135	V>A		No	ExAC gnomAD
rs371894136	136	R>Q		No	ESP ExAC TOPMed gnomAD
rs187773877	136	R>W		No	1000Genomes ExAC TOPMed gnomAD
rs1291804878	138	G>S		No	TOPMed gnomAD
rs1603241513	139	V>A		No	TOPMed
rs1603241513	139	V>G		No	TOPMed
rs2091868537	139	V>M		No	TOPMed
rs781908961	140	C>*		No	ExAC
rs2091868624	140	C>R		No	TOPMed
rs1427975271	141	E>D		No	TOPMed
rs1396609101	143	R>P		No	TOPMed gnomAD
rs1396609101	143	R>Q		No	TOPMed gnomAD
rs782794914	143	R>W		No	ExAC gnomAD
rs375561432	144	R>C		No	ESP ExAC TOPMed gnomAD
rs782121876	144	R>H		No	ExAC TOPMed gnomAD
rs375561432	144	R>S		No	ESP ExAC TOPMed gnomAD
rs1172246548	146	G>E		No	TOPMed gnomAD
rs1557059571	146	G>R		No	gnomAD
rs371848444	150	E>D		No	ESP ExAC TOPMed gnomAD
rs781839611	150	E>K		No	ExAC TOPMed gnomAD
rs781839611	150	E>Q		No	ExAC TOPMed gnomAD
rs782715395	151	V>L		No	ExAC TOPMed gnomAD
rs782715395	151	V>M		No	ExAC TOPMed gnomAD
rs781908260	153	Y>H		No	ExAC TOPMed gnomAD
TCGA novel	157	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs971617999	157	D>H		No	Ensembl
rs781825936	158	P>S		No	ExAC TOPMed gnomAD
COSM3559515 COSM3559516 rs782575354	159	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs782484859	159	G>R		No	ExAC TOPMed gnomAD
rs782484859	159	G>S		No	ExAC TOPMed gnomAD
rs1214922648	161	G>R		No	TOPMed gnomAD
rs1557059599	161	G>V		No	TOPMed gnomAD
rs2148413440	162	Q>H		No	Ensembl
rs2091869599	166	A>P		No	TOPMed
rs1264091848	169	P>L		No	TOPMed gnomAD
rs1264091848	169	P>Q		No	TOPMed gnomAD
rs2091869783	170	G>R		No	TOPMed
rs2148413486	172	A>S		No	Ensembl
rs1557059613	173	T>M		No	gnomAD
rs1212295165	174	V>A		No	TOPMed gnomAD
rs2091869987	176	L>P		No	Ensembl
rs1557059621	178	V>A		No	gnomAD
rs1440146266	179	P>L		No	TOPMed gnomAD
rs1557059626	181	P>L		No	gnomAD
rs868950741	182	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1355351960	182	G>V		No	TOPMed
rs781934370	183	R>Q		No	ExAC gnomAD
rs1170093749	183	R>W		No	TOPMed gnomAD
rs1557059637	184	D>E		No	gnomAD
rs2091870386	187	L>F		No	TOPMed
COSM4646869 COSM1466593 rs369077780	193	A>V	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs782084008	195	K>Q		No	ExAC
rs1179329749	196	L>P		No	TOPMed gnomAD
COSM3694421 rs782765277 COSM3694422	197	S>L	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1349575283	199	G>E		No	TOPMed
rs1202661698	199	G>W		No	Ensembl
rs1557059664	200	V>G		No	gnomAD
COSM3559517 COSM3559518	202	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM4917266 COSM4917267	204	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2091870893	206	R>C		No	Ensembl
rs1557059668	206	R>H		No	gnomAD
rs2091870952	209	A>T		No	TOPMed
rs1308989605	210	G>A		No	Ensembl
rs781896492	210	G>R		No	ExAC TOPMed gnomAD
rs1308989605	210	G>V		No	Ensembl
rs781896492	210	G>W		No	ExAC TOPMed gnomAD
rs150396453	212	Q>E		No	ESP ExAC TOPMed gnomAD
rs1557059684	215	S>C		No	gnomAD
rs1557059686	216	S>G		No	gnomAD
rs1372422105	216	S>T		No	TOPMed
rs2091871389	217	E>D		No	Ensembl
COSM5135781 rs377546863 COSM1466594	217	E>K	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs2091871429	218	G>A		No	Ensembl
rs369746764	219	L>P		No	ESP TOPMed gnomAD
rs149161688	221	R>C		No	ESP ExAC TOPMed gnomAD
rs782405462	221	R>H		No	ExAC TOPMed gnomAD
rs1434118229	223	V>L		No	TOPMed
rs1557059699	224	V>L		No	gnomAD
rs1557059707	226	D>N		No	gnomAD
rs373995578	229	D>H		No	ESP ExAC TOPMed gnomAD
rs373995578	229	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs1557059719	231	N>D		No	gnomAD
rs781970994	232	N>S		No	ExAC TOPMed gnomAD
rs377510384	233	S>T		No	ESP ExAC TOPMed gnomAD
rs782025100	235	V>I		No	ExAC TOPMed gnomAD
rs782468149	236	G>A		No	ExAC gnomAD
rs782754359	236	G>R		No	ExAC TOPMed gnomAD
rs781787695	238	F>L		No	ExAC gnomAD
rs1569541698	239	A>G		No	Ensembl
rs782464330	239	A>T		No	ExAC TOPMed gnomAD
rs1313637681	240	D>A		No	Ensembl
COSM3424604 rs782463555 COSM3424605	240	D>N	large_intestine [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs370988850	241	A>D		No	ESP ExAC TOPMed gnomAD
rs370988850	241	A>G		No	ESP ExAC TOPMed gnomAD
rs200638079	241	A>S		No	1000Genomes ExAC TOPMed gnomAD
rs200638079	241	A>T		No	1000Genomes ExAC TOPMed gnomAD
rs370988850	241	A>V		No	ESP ExAC TOPMed gnomAD
rs781945952	242	R>C		No	ExAC TOPMed gnomAD
rs782281624	242	R>H		No	ExAC gnomAD
rs781975356	244	A>T		No	ExAC TOPMed gnomAD
rs2091872561	246	F>I		No	Ensembl
rs1418129228	246	F>L		No	TOPMed gnomAD
rs2091872561	246	F>L		No	Ensembl
rs782126578	247	V>M		No	ExAC TOPMed gnomAD
rs782723671	249	R>C		No	ExAC gnomAD
rs374406078	249	R>H		No	ESP ExAC TOPMed gnomAD
rs1205162516	250	R>C		No	TOPMed gnomAD
rs782047906	250	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1205162516	250	R>S		No	TOPMed gnomAD
rs782704025	251	R>C		No	ExAC TOPMed gnomAD
rs781887159	251	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs781887159	251	R>L		No	ExAC gnomAD
rs782793837	252	G>R		No	ExAC TOPMed gnomAD
rs781827670	254	R>G		No	ExAC TOPMed gnomAD
rs199917520	254	R>Q		No	1000Genomes ExAC gnomAD
rs781827670	254	R>W		No	ExAC TOPMed gnomAD
rs782552912	256	Q>R		No	ExAC gnomAD
rs1557059784	257	A>P		No	gnomAD
TCGA novel	257	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs782250509	260	R>C		No	ExAC TOPMed gnomAD
rs376257187	260	R>H		No	ESP ExAC TOPMed gnomAD
rs376257187	260	R>L		No	ESP ExAC TOPMed gnomAD
rs781948973	262	Y>*		No	ExAC TOPMed gnomAD
rs1384892117	263	V>M		No	TOPMed gnomAD
COSM3406111 COSM3406110	265	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1557059801	265	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs868921229	265	R>S		No	gnomAD
rs2091873504	266	V>I		No	gnomAD
rs2091873632	269	G>E		No	TOPMed
rs781933765	270	D>N		No	ExAC gnomAD
rs2091873674	271	T>I		No	Ensembl
rs909462323	277	V>L		No	TOPMed
rs909462323	277	V>M		No	TOPMed
rs370095364	279	V>F		No	ESP ExAC TOPMed gnomAD
rs370095364	279	V>I		No	ESP ExAC TOPMed gnomAD
rs1557059812	281	L>F		No	gnomAD
rs1557059812	281	L>V		No	gnomAD
rs782082970	282	A>P		No	ExAC TOPMed gnomAD
rs782082970	282	A>T		No	ExAC TOPMed gnomAD
rs1427336226	283	C>S		No	TOPMed
rs2091874005	284	Q>R		No	TOPMed
rs374111928	285	G>S		No	ESP ExAC TOPMed gnomAD
rs2091874058	286	Q>L		No	Ensembl
rs1272367250	287	G>D		No	TOPMed gnomAD
rs1468845702	287	G>S		No	TOPMed
rs11798842	288	L>F		No	Ensembl
rs782073075	289	I>V		No	ExAC TOPMed gnomAD
rs781911980	292	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1557059838	292	A>V		No	gnomAD
rs1354538665	295	A>T		No	TOPMed gnomAD
rs782503637	296	P>L		No	ExAC TOPMed gnomAD
rs782503637	296	P>R		No	ExAC TOPMed gnomAD
TCGA novel	300	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2091874542	304	A>T		No	Ensembl
rs2148414095	304	A>V		No	Ensembl
rs1443804810	305	A>P		No	TOPMed gnomAD
rs1443804810	305	A>T		No	TOPMed gnomAD
rs782352020	305	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs1403895895	306	G>S		No	TOPMed
TCGA novel	307	P>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2091874797	307	P>R		No	TOPMed
rs782338582	309	G>D		No	ExAC TOPMed gnomAD
rs781972411	310	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs202085462	312	A>E		No	1000Genomes ExAC TOPMed gnomAD
rs2091874907	312	A>P		No	TOPMed
rs202085462 COSM1117491 COSM1599033	312	A>V	endometrium [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1454684044	313	A>V		No	TOPMed gnomAD
rs1557059889	316	A>P		No	gnomAD
COSM1715847 COSM1715848	318	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1557059894	318	P>S		No	TOPMed gnomAD
rs1557059897	319	M>I		No	gnomAD
rs1557059896	319	M>V		No	TOPMed gnomAD
rs2091875288	320	V>A		No	Ensembl
rs1439273120	320	V>M		No	TOPMed gnomAD
rs2091875313	321	E>K		No	TOPMed
rs2091875375	323	G>S		No	Ensembl
rs781868142	324	A>T		No	ExAC gnomAD
rs2091875468	325	S>G		No	TOPMed
TCGA novel	325	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs374183010	326	M>I		No	ESP ExAC gnomAD
rs2091875526	329	A>V		No	Ensembl
rs1341698175	330	R>Q		No	TOPMed gnomAD
rs1557059904	330	R>W		No	gnomAD
rs2148414218	331	R>I		No	Ensembl
rs1557059910	335	T>A		No	gnomAD
rs1236522993	335	T>M		No	TOPMed gnomAD
rs2091875818	336	A>T		No	Ensembl
rs782669923	336	A>V		No	ExAC TOPMed gnomAD
rs1557059915 CA415097737 RCV000498811	337	G>R		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1337959515	338	G>C		No	TOPMed gnomAD
rs2091876032	338	G>D		No	Ensembl
rs1337959515	338	G>S		No	TOPMed gnomAD
rs782600752	339	R>P		No	ExAC TOPMed gnomAD
rs782600752	339	R>Q		No	ExAC TOPMed gnomAD
rs782506512	339	R>W		No	ExAC TOPMed gnomAD
rs2091876215	340	G>D		No	TOPMed
rs782787744	340	G>S		No	1000Genomes gnomAD
rs2091876272	341	P>T		No	Ensembl
rs1175001921	342	S>G		No	TOPMed
rs782305118	342	S>R		No	ExAC TOPMed gnomAD
rs1434738521	343	G>C		No	TOPMed gnomAD
rs1434738521	343	G>S		No	TOPMed gnomAD
rs1170819184	344	A>T		No	TOPMed gnomAD
rs2091876396	345	E>K		No	Ensembl
rs1233293552	346	E>D		No	TOPMed
rs1471112825	346	E>V		No	TOPMed gnomAD
rs2091876482	347	A>S		No	Ensembl
rs1557059939	349	V>M		No	TOPMed gnomAD
rs1557059940	350	E>G		No	gnomAD
rs2091876648	352	G>A		No	Ensembl
rs368901623	352	G>S		No	ESP TOPMed gnomAD
rs2091876741	353	V>A		No	TOPMed
rs782055449	353	V>I		No	1000Genomes ExAC TOPMed gnomAD
rs868988904	354	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1006325245	356	R>C		No	TOPMed gnomAD
rs1280542430	356	R>H		No	TOPMed gnomAD
rs1409552761	357	C>R		No	TOPMed gnomAD
rs1314259821	358	V>I		No	TOPMed gnomAD
rs1415015783	359	T>I		No	TOPMed gnomAD
rs2091877106	361	P>S		No	TOPMed
rs782488240	363	D>A		No	ExAC
rs1365303923	363	D>E		No	TOPMed gnomAD
rs868907205	364	S>F		No	TOPMed gnomAD
rs868907205	364	S>Y		No	TOPMed gnomAD
rs2091882247	365	P>S		No	TOPMed
TCGA novel	366	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs782524207	366	E>G		No	ExAC gnomAD
rs781800887	366	E>K		No	ExAC TOPMed gnomAD
COSM3559520 COSM3559521 rs1444686074 COSM3559519	367	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs1168063118	368	Y>*		No	TOPMed gnomAD
rs1557060093	369	P>T		No	gnomAD
rs782511958	372	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs2091882482	373	E>K		No	TOPMed
rs1031438719	374	H>D		No	TOPMed gnomAD
rs782239104	375	T>I		No	ExAC TOPMed gnomAD
rs782239104	375	T>N		No	ExAC TOPMed gnomAD
rs2091882516	375	T>P		No	Ensembl
rs782239104	375	T>S		No	ExAC TOPMed gnomAD
rs2148415159	377	S>R		No	Ensembl
rs1433090818	378	P>T		No	gnomAD
rs1557060102	379	I>V		No	gnomAD
rs782316937	381	G>S		No	ExAC TOPMed gnomAD
rs782278304	382	R>C		No	ExAC gnomAD
rs782418950	382	R>H		No	ExAC TOPMed gnomAD
rs1603242347	384	P>A		No	TOPMed
rs2091882772	384	P>H		No	Ensembl
rs1603242347	384	P>S		No	TOPMed
rs1557060117	385	L>Q		No	gnomAD
rs782134831	386	E>D		No	ExAC gnomAD
rs2148415199	389	P>H		No	Ensembl
rs781919430	390	L>V		No	ExAC TOPMed gnomAD
rs782791284	391	L>R		No	ExAC gnomAD
rs782507197	392	K>M		No	ExAC gnomAD
rs782764110	392	K>N		No	ExAC TOPMed gnomAD
TCGA novel	393	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2091882965	394	G>E		No	TOPMed
rs782575059	394	G>R		No	ExAC gnomAD
rs782203925	395	Q>L		No	ExAC TOPMed gnomAD
rs782540845	396	P>L		No	ExAC TOPMed gnomAD
rs141165767	397	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1557060146	398	S>N		No	TOPMed gnomAD
rs1408216858	400	V>A		No	TOPMed
rs371643094	400	V>L		No	ESP ExAC TOPMed gnomAD
rs371643094	400	V>M		No	ESP ExAC TOPMed gnomAD
rs782017806	406	D>E		No	ExAC gnomAD
COSM322729 rs2091883295	406	D>N	lung [Cosmic]	No	cosmic curated gnomAD
COSM1292957 rs376853068	407	G>R	Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs2091883394	408	H>N		No	TOPMed
rs1466003030	409	M>T		No	TOPMed
rs781997206	410	I>L		No	ExAC gnomAD
rs782073875	410	I>T		No	ExAC TOPMed gnomAD
rs782753066	415	D>N		No	ExAC TOPMed gnomAD
rs201740104	416	T>I		No	1000Genomes ExAC
rs201740104	416	T>S		No	1000Genomes ExAC
rs1557060198	417	Q>R		No	TOPMed gnomAD
rs1557060205	419	Q>R		No	gnomAD
rs1473086829	420	L>V		No	TOPMed gnomAD
rs1557060216	421	Y>*		No	Ensembl
rs1557060214	421	Y>C		No	gnomAD
rs1557060220	422	K>N		No	TOPMed gnomAD
rs1413220700	426	H>P		No	TOPMed
rs782281721	427	G>D		No	ExAC gnomAD
rs1557060480	427	G>S		No	TOPMed gnomAD
rs782281721	427	G>V		No	ExAC gnomAD
TCGA novel	428	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs782438257	429	Q>R		No	ExAC gnomAD
rs1557060486	431	Q>H		No	TOPMed gnomAD
rs2091891920	431	Q>R		No	TOPMed
rs973814086	432	V>I		No	Ensembl
rs2091891977	433	Y>H		No	Ensembl
rs1451908302	434	H>Y		No	TOPMed
rs782347144	437	Q>K		No	ExAC gnomAD
rs2091892059	440	P>T		No	TOPMed
rs781965537	441	P>A		No	ExAC gnomAD
COSM1599032 COSM1117492	441	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs782051376	442	G>D		No	ExAC gnomAD
rs2091892130	443	S>L		No	TOPMed gnomAD
rs139115534	444	A>V		No	ESP ExAC TOPMed gnomAD
rs1221914442	445	I>V		No	TOPMed
rs782772907	447	P>A		No	ExAC TOPMed gnomAD
rs782772907	447	P>S		No	ExAC TOPMed gnomAD
rs781819769	450	L>Q		No	ExAC gnomAD
rs953495911	451	L>M		No	Ensembl
rs144016495	451	L>Q		No	ESP ExAC TOPMed gnomAD
rs146005579	452	D>E		No	ESP ExAC TOPMed gnomAD
rs1229892136	452	D>G		No	TOPMed
COSM4920973 COSM4920974	452	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs139900515	453	S>N		No	ESP TOPMed gnomAD
rs1432789842	454	S>N		No	TOPMed
TCGA novel	455	G>A	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs782555071	455	G>A		No	ExAC gnomAD
rs782679643	456	S>N		No	ExAC TOPMed gnomAD
rs782679643	456	S>T		No	ExAC TOPMed gnomAD
rs1369524419	457	H>D		No	TOPMed gnomAD
rs782248987	457	H>Q		No	ExAC TOPMed gnomAD
rs1369524419	457	H>Y		No	TOPMed gnomAD
rs2091892605	459	Y>H		No	Ensembl
rs199597733	462	T>A		No	1000Genomes ExAC gnomAD
rs988278268	463	A>T		No	TOPMed gnomAD
rs2091892690	463	A>V		No	TOPMed
rs1569541790	464	H>P		No	Ensembl
rs2091892729	464	H>Y		No	Ensembl
rs782323500	467	D>N		No	ExAC TOPMed gnomAD
rs782174999	468	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs782554732 COSM1117493 COSM1651540	468	R>W	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1557060605	469	I>M		No	gnomAD
rs1183959770	470	P>L		No	TOPMed
rs782380699	470	P>S		No	ExAC
rs782083217	473	A>P		No	ExAC TOPMed gnomAD
rs782083217	473	A>T		No	ExAC TOPMed gnomAD
rs376423175	475	P>L		No	ESP ExAC TOPMed gnomAD
rs1557060611	475	P>T		No	gnomAD
rs1484203168	476	Q>*		No	TOPMed gnomAD
rs1036115653	476	Q>H		No	TOPMed gnomAD
rs1484203168	476	Q>K		No	TOPMed gnomAD
rs2148416913	476	Q>R		No	Ensembl
rs782809682	478	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs782809682	478	P>R		No	ExAC gnomAD
rs1557060618	479	D>H		No	TOPMed gnomAD
rs1557060618	479	D>Y		No	TOPMed gnomAD
rs1603243301	480	C>Y		No	Ensembl
rs1557060624	482	S>R		No	gnomAD
rs2091895049	483	C>F		No	Ensembl
rs28447247	487	Q>R		No	Ensembl
rs201696853	489	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1557060629	489	P>T		No	gnomAD
rs1557060636	490	L>P		No	gnomAD
rs782445788	493	W>L		No	ExAC gnomAD
rs1557060640	494	C>G		No	Ensembl
rs2091895368	499	R>K		No	TOPMed
COSM6118146 COSM6118147 COSM6118148	500	C>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs782275965	502	R>P		No	ExAC TOPMed gnomAD
rs782275965	502	R>Q		No	ExAC TOPMed gnomAD
rs782453850	502	R>W		No	ExAC TOPMed gnomAD
rs782367079	503	K>E		No	ExAC TOPMed gnomAD
rs782001393	504	G>D		No	ExAC gnomAD
RCV000964158 rs145651760	507	G>R		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs145651760	507	G>W		No	1000Genomes ESP ExAC TOPMed gnomAD
rs782803644	508	R>Q		No	ExAC TOPMed gnomAD
rs782060934	508	R>W		No	ExAC TOPMed gnomAD
rs542027507	510	G>S		No	1000Genomes ExAC TOPMed gnomAD
rs148901418	510	G>V		No	ESP ExAC TOPMed gnomAD
rs781830850	511	Q>H		No	ExAC gnomAD
rs782496204	512	L>P		No	ExAC TOPMed gnomAD
rs781809734	517	W>C		No	ExAC gnomAD
rs79210580	517	W>G		No	ExAC gnomAD
rs782531618	518	S>G		No	ExAC gnomAD
rs782692577	518	S>R		No	ExAC
rs782255143	519	Y>F		No	ExAC
rs1557060936	521	E>D		No	gnomAD
rs2091907017	521	E>K		No	gnomAD
rs1557060941	522	D>A		No	gnomAD
rs1557060939	522	D>N		No	gnomAD
rs2091907089	523	S>G		No	TOPMed
rs782477518	523	S>T		No	ExAC TOPMed gnomAD
rs782618067	524	H>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
COSM1466597 COSM5094229 COSM5094230	525	C>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs782013908	528	I>S		No	ExAC gnomAD
rs782013908	528	I>T		No	ExAC gnomAD
rs2091907202	529	Q>H		No	TOPMed
rs2091907222	530	S>N		No	TOPMed
rs2091907242	531	L>M		No	TOPMed
rs782284503	533	P>L		No	ExAC TOPMed gnomAD
rs1557060959	534	G>S		No	gnomAD
rs2148418818	536	H>N		No	Ensembl
rs2091907359	536	H>P		No	Ensembl
rs1557060961	536	H>Q		No	gnomAD
TCGA novel	538	R>A	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs370097760	538	R>C		No	ESP ExAC TOPMed gnomAD
rs370097760	538	R>G		No	ESP ExAC TOPMed gnomAD
rs782808628	538	R>H		No	ExAC TOPMed gnomAD
rs782808628	538	R>P		No	ExAC TOPMed gnomAD
TCGA novel	540	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs781836984 RCV000943132	540	E>K		No	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
COSM422193	541	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2091907501	541	Q>R		No	TOPMed
rs782429021	542	G>C		No	1000Genomes ExAC TOPMed gnomAD
rs1243554267	542	G>D		No	TOPMed
rs782429021	542	G>R		No	1000Genomes ExAC TOPMed gnomAD
rs781838386	543	Q>H		No	ExAC TOPMed gnomAD
rs782718017	543	Q>R		No	ExAC gnomAD
TCGA novel	544	V>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs1557061068	544	V>I		No	gnomAD
rs1557061068	544	V>L		No	gnomAD
rs782438501	545	T>A		No	ExAC TOPMed gnomAD
rs782438501	545	T>S		No	ExAC TOPMed gnomAD
rs782595560	546	L>F		No	ExAC TOPMed gnomAD
TCGA novel	547	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs782426429	548	V>A		No	ExAC gnomAD
rs938008258	549	P>L		No	Ensembl
rs2091910691	549	P>S		No	TOPMed
rs2091910691	549	P>T		No	TOPMed
COSM3732432 COSM3732431 COSM3732430	550	R>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs782213788 VAR_079495	550	R>Q		No	UniProt ExAC TOPMed dbSNP gnomAD
rs782636433	550	R>W		No	ExAC TOPMed gnomAD
rs2091910825	553	I>N		No	Ensembl
rs1557061091	555	D>H		No	gnomAD
rs1557061091	555	D>N		No	gnomAD
rs2091910904	556	A>E		No	Ensembl
rs1055646249	557	D>H		No	TOPMed gnomAD
rs1055646249	557	D>N		No	TOPMed gnomAD
COSM1599031 COSM1117494	558	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs781918516	558	E>K		No	ExAC gnomAD
rs782394886	560	F>L		No	ExAC gnomAD
rs782112812	563	A>V		No	ExAC gnomAD
rs2266878	565	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ESP ExAC TOPMed gnomAD NCI-TCGA
rs782708590	566	D>N		No	ExAC TOPMed gnomAD
rs782708590	566	D>Y		No	ExAC TOPMed gnomAD
rs1557061121	568	D>N		No	TOPMed gnomAD
rs1557061121	568	D>Y		No	TOPMed gnomAD
rs1490875008	569	S>T		No	TOPMed
rs1557061123	570	L>F		No	gnomAD
COSM1599030 COSM1117495	572	H>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1037119823	572	H>Q		No	Ensembl
rs781812882	573	V>M		No	ExAC gnomAD
rs1557061131	575	G>E		No	gnomAD
rs1222442058	575	G>R		No	TOPMed
rs1222442058	575	G>W		No	TOPMed
rs782548296	577	H>Q		No	ExAC TOPMed gnomAD
rs782366597	577	H>Y		No	1000Genomes
COSM1726724 rs782803101 COSM1726723	578	V>M	liver [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs1557061140	579	A>S		No	gnomAD
rs781858832	580	C>S		No	ExAC gnomAD
rs1228530572	581	V>I		No	TOPMed
rs1326206620	583	P>S		No	TOPMed gnomAD
rs1557061150	584	P>S		No	gnomAD
rs782614928	585	Q>P		No	ExAC gnomAD
rs146501701	586	D>H		No	ESP ExAC TOPMed gnomAD
rs1603244549	587	Q>H		No	Ensembl
rs2091911546	588	V>A		No	Ensembl
rs782455705	591	N>D		No	ExAC TOPMed gnomAD
rs1365707973	591	N>T		No	TOPMed gnomAD
rs1557061158	592	P>A		No	gnomAD
rs1557061158	592	P>S		No	gnomAD
rs782283893	593	P>A		No	ExAC TOPMed gnomAD
rs2091911648	593	P>Q		No	Ensembl
COSM3559523 COSM3559524 COSM3559522	593	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs782372087	594	G>S		No	ExAC gnomAD
rs2091913697	596	D>A		No	Ensembl
COSM1715849 COSM1715850	597	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2091913783	598	V>A		No	Ensembl
rs2266879 VAR_019681	598	V>I		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1557061244	600	V>M		No	gnomAD
rs200197753	601	P>S		No	1000Genomes ExAC TOPMed gnomAD
rs782812513	604	L>V		No	ExAC TOPMed gnomAD
rs949435109	605	M>I		No	TOPMed
rs2091913956	605	M>T		No	TOPMed
rs1557061252	606	F>L		No	TOPMed gnomAD
rs374123296	607	E>K		No	ESP ExAC TOPMed gnomAD
rs367854471	609	V>M		No	ESP TOPMed gnomAD
rs995669353	611	V>L		No	Ensembl
rs2091914125	612	A>T		No	TOPMed
TCGA novel	613	A>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	617	S>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2091914168	620	D>V		No	Ensembl
rs782552714	622	S>G		No	ExAC TOPMed gnomAD
rs375109307	623	A>T		No	ESP ExAC TOPMed gnomAD
TCGA novel	623	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM1117498 COSM1651538 rs539782168 COSM4378301	624	V>I	Variant assessed as Somatic; MODERATE impact. endometrium haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs782576131	625	Q>P		No	ExAC gnomAD
rs782190621	627	L>F		No	ExAC gnomAD
rs2148419922	627	L>M		No	Ensembl
rs782417459	628	E>K		No	ExAC TOPMed gnomAD
COSM4911228 rs782036174 COSM4911229 COSM4911227	629	A>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC TOPMed gnomAD
rs1338462583	629	A>T		No	TOPMed gnomAD
rs782036174	629	A>V		No	ExAC TOPMed gnomAD
rs1336380813	630	A>T		No	Ensembl
rs2091914459	631	A>D		No	Ensembl
rs781950083	631	A>S		No	ExAC TOPMed gnomAD
rs781950083	631	A>T		No	ExAC TOPMed gnomAD
rs372331714	632	P>L		No	ESP ExAC TOPMed gnomAD
rs372331714	632	P>R		No	ESP ExAC TOPMed gnomAD
rs782775543	634	R>C		No	ExAC TOPMed gnomAD
rs781861323	634	R>H		No	ExAC TOPMed gnomAD
rs147082716	635	A>T		No	1000Genomes ExAC TOPMed gnomAD
rs1603244975	636	C>R		No	Ensembl
rs782461403	637	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs782002708	638	G>A		No	ExAC
rs782377121	638	G>S		No	ExAC TOPMed gnomAD
rs782002708	638	G>V		No	ExAC
TCGA novel	639	S>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs782209764	641	W>S		No	ExAC gnomAD
rs782469938	642	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs1289345640	642	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs2091916506	644	H>N		No	Ensembl
rs781926148	647	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs781926148	647	P>Q		No	ExAC TOPMed gnomAD
rs782809651	648	Q>E		No	ExAC TOPMed gnomAD
rs1338558224	648	Q>H		No	TOPMed gnomAD
rs781983227	649	S>I		No	ExAC gnomAD
rs190195934	649	S>R		No	1000Genomes ExAC TOPMed gnomAD
rs2091916670	650	S>G		No	TOPMed
rs1557061385	651	H>R		No	TOPMed gnomAD
rs781832307	653	V>M		No	ExAC TOPMed gnomAD
rs181891775	654	Y>C		No	1000Genomes ExAC TOPMed gnomAD
rs782434553	654	Y>H		No	ExAC gnomAD
rs181891775	654	Y>S		No	1000Genomes ExAC TOPMed gnomAD
rs1412060428	655	G>A		No	TOPMed gnomAD
rs782559344 COSM5090365 COSM1466600 COSM5090366	655	G>R	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1557061397	656	E>K		No	gnomAD
rs1557061397	656	E>Q		No	gnomAD
rs1557061403	659	P>R		No	gnomAD
rs1557061408	660	E>A		No	gnomAD
rs1185620017	660	E>K		No	TOPMed
rs1185620017	660	E>Q		No	TOPMed
rs1270448175	661	G>D		No	TOPMed gnomAD
rs1476606812	661	G>S		No	TOPMed gnomAD
rs373196958	662	E>K		No	ESP ExAC TOPMed gnomAD
rs2091917033	663	R>G		No	TOPMed
rs782481792	663	R>M		No	ExAC TOPMed gnomAD
rs782186077	663	R>S		No	ExAC TOPMed gnomAD
rs782481792	663	R>T		No	ExAC TOPMed gnomAD
RCV000879484 rs147973343	664	T>I		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2091917107	664	T>P		No	TOPMed
rs145979763	668	A>S		No	ESP ExAC TOPMed gnomAD
rs145979763	668	A>T		No	ESP ExAC TOPMed gnomAD
rs782305028	668	A>V		No	ExAC gnomAD
rs782153200	670	E>D		No	ExAC TOPMed gnomAD
rs139853034 RCV000885932	670	E>K		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1569541878	671	V>A		No	TOPMed
rs1557061507	671	V>L		No	TOPMed gnomAD
rs1557061507	671	V>M		No	TOPMed gnomAD
rs895001229	672	D>Y		No	Ensembl
rs199908902	674	Q>E		No	1000Genomes ExAC TOPMed gnomAD
rs782294628	675	V>A		No	ExAC TOPMed gnomAD
rs782294628	675	V>G		No	ExAC TOPMed gnomAD
rs150768754	675	V>M		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM3694204 COSM3694205 COSM3694203 rs782515421	676	R>C	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM1165975 rs139203705	676	R>H	large_intestine [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs782515421	676	R>S		No	ExAC TOPMed gnomAD
rs1557061520	679	G>E		No	gnomAD
rs2091919938	679	G>R		No	Ensembl
rs2091920001	680	A>D		No	gnomAD
rs782215577	680	A>S		No	ExAC TOPMed gnomAD
rs782215577	680	A>T		No	ExAC TOPMed gnomAD
rs2091920021	681	C>G		No	Ensembl
rs781975103	683	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC TOPMed gnomAD NCI-TCGA
rs2091920076	684	V>I		No	Ensembl
rs781982131	685	E>G		No	ExAC gnomAD
rs782058864	685	E>K		No	1000Genomes ExAC TOPMed gnomAD
rs782121909	687	L>Q		No	ExAC gnomAD
rs2094675809	688	A>T		No	Ensembl
rs1557061530	688	A>V		No	gnomAD
rs782738493	689	G>D		No	ExAC gnomAD
rs2091920176	689	G>R		No	TOPMed
rs1025679740	690	P>L		No	TOPMed
rs2091920284	692	L>V		No	TOPMed
rs2091920315	693	V>L		No	Ensembl
rs782715367	695	V>M		No	ExAC gnomAD
rs2148420786	696	G>R		No	Ensembl
rs782757941	697	W>*		No	ExAC gnomAD
rs782560262	697	W>S		No	ExAC TOPMed gnomAD
rs145207517	698	E>D		No	ESP ExAC TOPMed gnomAD
rs1238586993	699	S>N		No	TOPMed gnomAD
rs1557061544	700	H>Y		No	gnomAD
COSM3747367 COSM3747368 rs1569541885	702	A>V	liver [Cosmic]	No	cosmic curated Ensembl
TCGA novel rs1557061551	704	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs373965130 COSM5711540 COSM5711541 COSM5711539	704	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP NCI-TCGA TOPMed gnomAD
rs1557061551	704	R>S		No	gnomAD
rs782548925	705	V>L		No	1000Genomes ExAC TOPMed gnomAD
rs782548925	705	V>M		No	1000Genomes ExAC TOPMed gnomAD
rs782236263	706	R>G		No	ExAC TOPMed gnomAD
rs201817979	706	R>Q		No	1000Genomes ExAC TOPMed gnomAD
COSM4107815 COSM4107814 rs782236263 COSM4107813	706	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
COSM1599028 COSM1117499	708	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs781864901	710	H>L		No	1000Genomes ExAC gnomAD
rs781864901	710	H>R		No	1000Genomes ExAC gnomAD
rs1557061570	710	H>Y		No	Ensembl
COSM6186132 COSM6186131 COSM6186133	711	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1453928876	712	R>*		No	TOPMed
COSM1599027 COSM4589281 rs368450576 COSM1117500	712	R>Q	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs781954635	713	G>A		No	ExAC gnomAD
rs781954635	713	G>D		No	ExAC gnomAD
rs2091922294	713	G>S		No	TOPMed
rs1683292188	716	A>D		No	TOPMed
rs782099950	716	A>P		No	ExAC TOPMed gnomAD
rs782099950	716	A>T		No	ExAC TOPMed gnomAD
COSM4107816 COSM4107818 COSM4107817	717	S>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	717	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs140681169 RCV000912212	719	H>R		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1557061626	721	W>*		No	gnomAD
rs2091922496	721	W>*		No	TOPMed
COSM755755 COSM1648253	721	W>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1557061624	721	W>R		No	TOPMed gnomAD
rs1557061626	721	W>S		No	gnomAD
rs782155105	723	E>Q		No	ExAC TOPMed gnomAD
rs1366051110	724	L>V		No	TOPMed
rs1557061639	725	P>H		No	gnomAD
rs2091922608	726	G>R		No	Ensembl
TCGA novel	727	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs782080381	727	E>D		No	ExAC TOPMed gnomAD
rs1456256645	727	E>Q		No	TOPMed gnomAD
rs1195633753	728	L>P		No	TOPMed gnomAD
rs147911027	729	R>Q		No	ESP ExAC TOPMed gnomAD
COSM3235936 rs144605528 COSM4378309 COSM3235935	729	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs782464387	730	G>A		No	ExAC TOPMed gnomAD
rs782464387	730	G>V		No	ExAC TOPMed gnomAD
rs2091922722	731	L>P		No	TOPMed
rs782656549	732	P>L		No	ExAC TOPMed gnomAD
rs1209734596	733	A>T		No	TOPMed
rs1557061655	734	T>I		No	gnomAD
rs782654734	735	L>M		No	ExAC TOPMed gnomAD
rs1253394027	737	E>*		No	TOPMed
rs1227746011	737	E>D		No	TOPMed gnomAD
rs1253394027	737	E>K		No	TOPMed
rs2091922969	739	A>V		No	TOPMed gnomAD
rs1557061667	740	G>E		No	gnomAD
rs782360864	740	G>R		No	ExAC gnomAD
rs782425712	741	D>E		No	ExAC TOPMed gnomAD
rs782198887	741	D>N		No	ExAC TOPMed gnomAD
rs1557061677	744	L>V		No	gnomAD
TCGA novel	745	I>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1603245520	746	H>N		No	Ensembl
rs782034676	748	Q>R		No	ExAC gnomAD
rs373921353	749	A>G		No	ESP ExAC gnomAD
rs781968139	750	H>D		No	ExAC gnomAD
rs781968139	750	H>Y		No	ExAC gnomAD
TCGA novel	751	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs781946256	753	Y>H		No	1000Genomes ExAC gnomAD
rs782052980	755	S>P		No	ExAC gnomAD
rs782717176	756	M>I		No	ExAC gnomAD
rs1018657753	756	M>T		No	Ensembl
rs1557061777	759	R>G		No	TOPMed gnomAD
rs964030825	759	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1557061777	759	R>W		No	TOPMed gnomAD
rs782552228	760	E>Q		No	ExAC gnomAD
rs782781381	763	V>M		No	ExAC gnomAD
rs1333735113	765	I>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs2091927616	766	Y>C		No	Ensembl
rs782425266	767	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs782565404	768	T>S		No	ExAC gnomAD
rs1557061795 RCV001573651	769	Q>H		No	ClinVar TOPMed dbSNP gnomAD
rs782126891	769	Q>R		No	1000Genomes ExAC TOPMed gnomAD
rs1557061800	770	G>D		No	gnomAD
rs1159833717	770	G>S		No	TOPMed
rs782682163	772	A>P		No	ExAC gnomAD
rs782682163	772	A>T		No	ExAC gnomAD
rs2091927871	773	Q>E		No	TOPMed
rs1557061807	776	D>H		No	gnomAD
rs2091927952	777	N>S		No	gnomAD
rs977962667	778	T>A		No	gnomAD
rs2091928018	779	H>P		No	Ensembl
rs2091928018	779	H>R		No	Ensembl
rs1557061813	780	A>T		No	TOPMed gnomAD
rs1476166336	784	I>F		No	TOPMed gnomAD
rs1263277859	784	I>T		No	TOPMed gnomAD
rs1223091634	787	D>E		No	TOPMed gnomAD
rs141109198	787	D>N		No	ESP ExAC TOPMed gnomAD
rs141109198	787	D>Y		No	ESP ExAC TOPMed gnomAD
rs782155380	789	A>T		No	ExAC TOPMed gnomAD
rs781871704	790	M>I		No	ExAC TOPMed gnomAD
rs782760643	790	M>V		No	ExAC gnomAD
rs782080603	791	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs138935872 RCV000970525	793	P>L		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs782451122	798	C>Y		No	ExAC gnomAD
rs782674956	800	A>P		No	ExAC gnomAD
rs781903961	800	A>V		No	ExAC TOPMed gnomAD
rs2091930117	802	N>S		No	TOPMed
rs782658604	803	R>K		No	ExAC TOPMed gnomAD
TCGA novel	803	R>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs782220156	804	S>G		No	ExAC TOPMed gnomAD
rs782306101	805	L>R		No	ExAC TOPMed gnomAD
rs1557061879	806	G>R		No	gnomAD
COSM3800479 COSM3800480 COSM3800481	807	C>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs782570237	810	C>R		No	ExAC TOPMed gnomAD
rs1423968200	812	D>G		No	TOPMed gnomAD
rs1423968200	812	D>V		No	TOPMed gnomAD
rs144601801	813	G>S		No	ESP ExAC TOPMed gnomAD
rs2091930403	814	Q>*		No	TOPMed
rs782255019	815	P>T		No	ExAC TOPMed gnomAD
rs782345456	818	R>C		No	ExAC TOPMed gnomAD
rs781971591	818	R>H		No	ExAC TOPMed gnomAD
rs1603246041	819	Y>H		No	Ensembl
rs1557061906	820	G>E		No	gnomAD
rs1488080718	820	G>R		No	TOPMed
rs782053902	821	P>H		No	ExAC gnomAD
rs1244780835	821	P>S		No	TOPMed
rs782714649	822	L>S		No	ExAC gnomAD
rs370781491	824	P>L		No	ESP ExAC TOPMed gnomAD
TCGA novel	824	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs782760077	825	P>L		No	1000Genomes ExAC TOPMed gnomAD
TCGA novel	825	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2091930661	826	G>E		No	Ensembl
rs782573626	827	A>S		No	TOPMed gnomAD
rs782573626	827	A>T		No	TOPMed gnomAD
TCGA novel	827	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1557061926	828	V>M		No	gnomAD
rs375202688 COSM3992414 COSM3992413 COSM3992412	829	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs2091930850	833	P>H		No	Ensembl
rs782686812	834	A>T		No	ExAC TOPMed gnomAD
rs1444897449	834	A>V		No	TOPMed gnomAD
rs1330316647	835	P>S		No	TOPMed
rs782525744 COSM1117501 COSM1651537	836	S>N	endometrium [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs879975545	836	S>R		No	Ensembl
rs1557061944	839	A>V		No	gnomAD
rs1423421078	841	E>K		No	TOPMed gnomAD
rs782232949	845	G>C		No	ExAC TOPMed gnomAD
rs782232949	845	G>R		No	ExAC TOPMed gnomAD
rs782232949	845	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
COSM5129015 COSM5129014 COSM1466602	846	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs782311955	846	P>S		No	ExAC TOPMed gnomAD
rs1557062050	847	P>L		No	gnomAD
rs2091934687	847	P>S		No	Ensembl
rs782371490	852	A>S		No	ExAC TOPMed gnomAD
rs782371490	852	A>T		No	ExAC TOPMed gnomAD
TCGA novel	852	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2091934822	853	L>V		No	TOPMed
rs1488656820	855	I>V		No	TOPMed gnomAD
rs1557062063	857	G>A		No	gnomAD
rs2091934904	859	N>S		No	Ensembl
rs138618805	862	R>L		No	ESP ExAC TOPMed gnomAD
rs138618805	862	R>Q		No	ESP ExAC TOPMed gnomAD
rs782757118	862	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs2091935040	864	F>S		No	TOPMed
rs201993079	865	A>T		No	1000Genomes ExAC TOPMed gnomAD
rs782651975	866	D>N		No	ExAC TOPMed gnomAD
rs781828875	868	Q>L		No	ExAC gnomAD
rs782028379	870	A>T		No	1000Genomes ExAC TOPMed gnomAD
COSM1117502 rs782630918 COSM1599026	871	V>M	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs144548620	872	S>R		No	ESP ExAC TOPMed gnomAD
rs2091935279	873	V>M		No	gnomAD
rs2091935302 COSM1117503 COSM1651536	875	S>N	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed
COSM6030145 rs141796383 COSM6030144 COSM6030146	876	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs148448651	876	R>W		No	ESP ExAC TOPMed gnomAD
rs782320094	879	N>D		No	ExAC gnomAD
rs781951810	881	E>D		No	ExAC TOPMed gnomAD
rs1557062115	881	E>Q		No	gnomAD
rs1557062120	882	P>S		No	gnomAD
rs200750569	883	S>F		No	1000Genomes ExAC TOPMed gnomAD
TCGA novel	885	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1557062125	885	Y>F		No	Ensembl
rs1453766008	886	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs782764892	886	R>H		No	ExAC TOPMed gnomAD
rs1453766008	886	R>S		No	TOPMed gnomAD
rs781873944	887	T>M		No	ExAC TOPMed gnomAD
rs1557062131	888	S>L		No	gnomAD
rs1557062136	889	A>T		No	gnomAD
rs782796672	890	R>G		No	ExAC TOPMed gnomAD
rs140590097	890	R>Q		No	ESP ExAC TOPMed gnomAD
rs782796672	890	R>W		No	ExAC TOPMed gnomAD
TCGA novel	891	I>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs782613407	892	V>L		No	ExAC gnomAD
rs782319488	894	V>L		No	ExAC gnomAD
rs782319488	894	V>M		No	ExAC gnomAD
rs2091938912	897	P>R		No	Ensembl
rs2091938969	899	P>H		No	gnomAD
rs2091938992	900	N>D		No	Ensembl
rs782289362	900	N>S		No	ExAC TOPMed gnomAD
rs1557062246	902	T>S		No	gnomAD
rs782368588	905	P>L		No	ExAC gnomAD
rs201702238	906	V>F		No	1000Genomes ExAC TOPMed gnomAD
rs201702238	906	V>I		No	1000Genomes ExAC TOPMed gnomAD
rs200934815	907	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs782733468	907	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs782065187	908	V>L		No	ExAC gnomAD
rs782065187	908	V>M		No	ExAC gnomAD
rs782794387	909	A>D		No	ExAC gnomAD
rs1557062256	909	A>T		No	gnomAD
rs782794387	909	A>V		No	ExAC gnomAD
rs2091939211	911	K>N		No	TOPMed gnomAD
rs1603246586	912	S>N		No	Ensembl
rs1351190011	914	P>S		No	TOPMed gnomAD
rs1351190011	914	P>T		No	TOPMed gnomAD
rs2091939289	915	P>A		No	Ensembl
rs1278049497	920	Q>H		No	TOPMed gnomAD
rs1450407349	922	F>L		No	Ensembl
rs1279464807	926	D>A		No	TOPMed gnomAD
rs1557062495	933	S>N		No	TOPMed gnomAD
rs1557062495	933	S>T		No	TOPMed gnomAD
TCGA novel	934	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1557062498	934	P>T		No	gnomAD
rs2148424746	935	R>C		No	Ensembl
rs370158582	935	R>H		No	ESP ExAC TOPMed gnomAD
rs1603247121	938	P>L		No	TOPMed
rs868933178	939	Q>K		No	TOPMed
TCGA novel	940	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2091949051	940	A>V		No	gnomAD
rs2091949106	942	G>V		No	Ensembl
rs1557062523	948	R>*		No	gnomAD
rs372413645	948	R>Q		No	ESP ExAC TOPMed gnomAD
rs1557062526	950	Q>R		No	gnomAD
rs782094625	954	T>I		No	ExAC TOPMed gnomAD
rs782693353	955	G>A		No	ExAC TOPMed gnomAD
rs782693353	955	G>D		No	ExAC TOPMed gnomAD
rs144666678	957	N>H		No	ESP TOPMed gnomAD
rs2091949329	958	T>A		No	Ensembl
rs782526023	958	T>I		No	ExAC gnomAD
rs2148424836	959	S>I		No	Ensembl
rs370374582	962	V>A		No	ESP ExAC TOPMed gnomAD
rs2091949427	962	V>M		No	gnomAD
TCGA novel	963	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs782543452	964	G>D		No	1000Genomes ExAC gnomAD
rs782233182	964	G>S		No	ExAC gnomAD
rs1191641733	966	P>L		No	gnomAD
rs782590898	969	I>N		No	ExAC TOPMed gnomAD
rs782590898	969	I>T		No	ExAC TOPMed gnomAD
rs781854042	971	E>D		No	ExAC gnomAD
rs782776023	971	E>K		No	ExAC gnomAD
rs782776023	971	E>Q		No	ExAC gnomAD
rs1416477659	973	V>A		No	TOPMed gnomAD
rs1185723830	975	P>T		No	TOPMed gnomAD
rs2091953489	976	E>G		No	TOPMed
rs375226965	976	E>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs375226965	976	E>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs782486603	977	A>T		No	ExAC TOPMed gnomAD
rs139989610	978	I>M		No	ESP ExAC TOPMed gnomAD
rs369935750	979	V>M		No	ESP ExAC TOPMed gnomAD
rs2091953562	980	C>S		No	TOPMed
COSM3733407 COSM3733409 COSM3733408 rs782508777	981	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs782400714 COSM1190647	981	R>H	lung [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs782329303	983	R>K		No	ExAC TOPMed gnomAD
rs782329303	983	R>T		No	ExAC TOPMed gnomAD
rs2091953676	986	A>T		No	Ensembl
rs2016507065	987	A>T		No	TOPMed
rs1557062662	987	A>V		No	gnomAD
rs782225065	989	G>A		No	ExAC gnomAD
rs782334605	992	A>T		No	ExAC gnomAD
rs781999056	992	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	994	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs782060904	998	G>D		No	ExAC gnomAD
rs201369325	998	G>S		No	1000Genomes ExAC TOPMed gnomAD
rs2091953871	1001	Q>H		No	TOPMed gnomAD
rs782755267	1002	R>C		No	ExAC TOPMed gnomAD
rs868912528 RCV000709843	1002	R>H		No	ClinVar Ensembl dbSNP
rs1557062686	1003	T>I		No	gnomAD
rs781826620	1005	L>F		No	ExAC TOPMed gnomAD
rs1461581650	1005	L>P		No	TOPMed gnomAD
rs189684685	1006	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1007	S>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2091954049	1008	P>S		No	TOPMed
COSM1466603 rs781907647 COSM5090368 COSM5090367	1010	R>C	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs373016226	1010	R>H		No	ESP ExAC TOPMed gnomAD
rs2091954113	1011	Y>C		No	Ensembl
rs376757604	1013	A>T		No	ESP ExAC TOPMed gnomAD
rs1557062701	1017	L>I		No	gnomAD
rs201440646	1019	A>E		No	1000Genomes ExAC gnomAD
rs201440646	1019	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA gnomAD
rs782052955	1020	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs782272752	1023	S>T		No	ExAC TOPMed gnomAD
TCGA novel	1024	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs782328918	1027	R>Q		No	1000Genomes ExAC TOPMed gnomAD
COSM3747370 COSM3747371 rs782318928	1027	R>W	liver [Cosmic]	No	cosmic curated ExAC gnomAD
rs2148425608	1028	G>R		No	Ensembl
rs2091955916	1029	G>D		No	TOPMed
COSM1315328	1031	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel rs2091955939	1032	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs781971671	1033	I>M		No	ExAC TOPMed gnomAD
rs782082528	1034	R>C		No	ExAC TOPMed gnomAD
COSM4716004 COSM4716005 COSM4716003 rs181071909	1034	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs181071909	1034	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1557062766	1037	G>D		No	gnomAD
rs2148425863	1038	T>A		No	Ensembl
rs2091956054	1038	T>I		No	Ensembl
rs782803290	1039	G>S		No	ExAC TOPMed gnomAD
rs781800371	1042	V>L		No	ExAC TOPMed gnomAD
rs781800371	1042	V>M		No	ExAC TOPMed gnomAD
rs782441783	1043	V>M		No	ExAC gnomAD
rs2091956210	1044	Q>E		No	gnomAD
COSM5065937 COSM1569625 COSM5065936 rs781882423	1045	R>Q	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs782090833	1045	R>W		No	1000Genomes ExAC TOPMed gnomAD
rs1433893121	1046	P>S		No	TOPMed gnomAD
rs2091956298	1050	V>A		No	TOPMed
rs1421049314	1053	E>K		No	Ensembl
rs371199032	1054	A>T		No	ESP ExAC TOPMed gnomAD
rs782450733	1056	A>T		No	ExAC TOPMed gnomAD
rs782580336	1058	V>L		No	ExAC TOPMed gnomAD
rs782580336	1058	V>M		No	ExAC TOPMed gnomAD
rs782224778	1059	Q>E		No	ExAC TOPMed gnomAD
rs782341195	1060	A>V		No	ExAC TOPMed gnomAD
rs782738305	1063	A>T		No	1000Genomes ExAC TOPMed gnomAD
rs1278546341	1064	Q>P		No	TOPMed
rs782245749	1065	P>A		No	ExAC TOPMed gnomAD
rs782245749	1065	P>S		No	ExAC TOPMed gnomAD
rs782245749	1065	P>T		No	ExAC TOPMed gnomAD
rs2148425949	1066	Q>K		No	Ensembl
rs1557062831	1067	D>N		No	TOPMed gnomAD
rs1557062831	1067	D>Y		No	TOPMed gnomAD
rs2091956764	1071	R>T		No	TOPMed
rs782015410	1072	R>K		No	ExAC gnomAD
rs2148425969	1073	S>T		No	Ensembl
rs1293866821	1074	C>Y		No	TOPMed
rs782061585	1076	A>T		No	ExAC gnomAD
rs781964742	1079	A>E		No	ExAC TOPMed gnomAD
rs782298822	1079	A>S		No	ExAC TOPMed gnomAD
rs781964742	1079	A>V		No	ExAC TOPMed gnomAD
rs782771749	1080	D>E		No	ExAC TOPMed gnomAD
rs1603247587	1081	P>H		No	TOPMed gnomAD
rs1603247587	1081	P>R		No	TOPMed gnomAD
rs781910392	1082	Q>E		No	ExAC gnomAD
rs2091957020	1083	A>G		No	TOPMed
rs1557062850	1083	A>T		No	gnomAD
rs186100707	1088	G>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs782717211	1089	G>E		No	ExAC TOPMed gnomAD
rs1189270790	1090	G>R		No	TOPMed
TCGA novel	1091	L>C	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1557062860	1091	L>M		No	gnomAD
rs2091957196	1093	Q>H		No	TOPMed
rs1184422728	1094	C>R		No	TOPMed
rs1469582393	1095	S>C		No	Ensembl
rs1253237625	1096	T>S		No	TOPMed gnomAD
rs782125995	1097	V>A		No	ExAC TOPMed gnomAD
rs374773455	1097	V>I		No	ESP ExAC TOPMed gnomAD
rs782775587	1100	V>I		No	ExAC TOPMed gnomAD
rs781897955	1102	S>L		No	ExAC gnomAD
rs2091959274	1102	S>P		No	TOPMed
rs111942299 RCV000887374	1104	S>N		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1557062929	1104	S>R		No	gnomAD
rs111942299	1104	S>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs145360535	1109	R>P		No	ESP ExAC TOPMed gnomAD
rs145360535	1109	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs781786655	1109	R>W		No	ExAC TOPMed gnomAD
rs958483288	1112	A>T		No	Ensembl
rs782552049	1113	V>A		No	ExAC gnomAD
rs1372997163	1113	V>I		No	TOPMed
rs2148426372	1114	P>R		No	Ensembl
rs782586367	1115	D>E		No	1000Genomes ExAC TOPMed gnomAD
rs2091959554	1115	D>N		No	TOPMed
rs782313304	1116	R>T		No	ExAC gnomAD
rs1455833743	1117	A>G		No	gnomAD
rs781969979	1117	A>T		No	ExAC gnomAD
rs782214419	1118	H>Q		No	ExAC TOPMed gnomAD
rs782391207	1119	P>L		No	ExAC TOPMed gnomAD
rs782391207	1119	P>R		No	ExAC TOPMed gnomAD
rs2148426396 TCGA novel	1119	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs1251959687	1121	R>G		No	TOPMed gnomAD
rs1196319451	1121	R>Q		No	TOPMed gnomAD
rs1251959687 COSM1221303 COSM5064515 COSM5064514	1121	R>W	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs372502098	1122	V>F		No	ESP ExAC TOPMed gnomAD
TCGA novel	1123	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM6186124 COSM6186123 COSM6186122	1124	F>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1603247794	1125	T>A		No	Ensembl
TCGA novel	1126	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs781934893	1129	V>M		No	ExAC TOPMed gnomAD
COSM4844055 COSM4844056 COSM4844057	1131	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2148426437	1134	A>G		No	Ensembl
rs920485568	1134	A>T		No	TOPMed gnomAD
rs2054640225	1135	S>R		No	TOPMed
rs2148426443	1137	S>N		No	Ensembl
rs1557062965	1137	S>R		No	gnomAD
rs2091959959	1138	G>E		No	Ensembl
rs1603247804	1138	G>R		No	TOPMed
rs1348296727	1139	G>D		No	TOPMed gnomAD
rs2091959992	1140	Q>K		No	Ensembl
rs1557062967	1140	Q>R		No	gnomAD
rs1304470777	1141	G>S		No	TOPMed gnomAD
COSM3973432 COSM3973431 COSM3973430	1145	Q>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs375474840	1147	N>K		No	ESP ExAC TOPMed gnomAD
rs781818115	1147	N>T		No	ExAC gnomAD
rs782820984	1149	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs781889794	1149	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1396466475	1151	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs1557062988	1152	P>A		No	gnomAD
rs1557062988	1152	P>T		No	gnomAD
rs782469872	1155	R>C		No	ExAC TOPMed gnomAD
rs782469872	1155	R>G		No	ExAC TOPMed gnomAD
rs782652825	1155	R>H		No	ExAC TOPMed gnomAD
rs782652825	1155	R>L		No	ExAC TOPMed gnomAD
rs6643791 VAR_061538	1156	E>D		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs199905333	1156	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs892655372	1157	G>A		No	Ensembl
rs1417968010	1157	G>R		No	TOPMed gnomAD
rs781962579	1158	P>L		No	ExAC gnomAD
rs2091960448	1159	A>T		No	Ensembl
rs782348716	1160	R>C		No	1000Genomes ExAC TOPMed gnomAD
rs146891755	1160	R>H		No	ESP ExAC TOPMed gnomAD
COSM6118140 COSM6118142 COSM6118141	1160	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1557063009	1161	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1485879456	1163	R>C		No	TOPMed gnomAD
rs781979640	1163	R>H		No	1000Genomes ExAC TOPMed gnomAD
rs1557063020	1164	L>F		No	gnomAD
rs1557063022	1167	G>S		No	gnomAD
rs782712006	1169	V>I		No	ExAC TOPMed gnomAD
rs782712006	1169	V>L		No	ExAC TOPMed gnomAD
rs2091960668 COSM3559537 COSM3559538 COSM3559539	1171	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
TCGA novel	1175	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1557063091	1175	E>K		No	TOPMed gnomAD
rs1557063098	1176	G>D		No	TOPMed gnomAD
COSM1659451 rs1356728532 COSM1659452	1176	G>S	kidney [Cosmic]	No	cosmic curated TOPMed
rs2091962525	1180	G>A		No	TOPMed
rs1557063102	1183	K>R		No	gnomAD
rs2091962581	1184	E>K		No	TOPMed
rs373692086	1185	E>K		No	ESP ExAC TOPMed gnomAD
rs781865230	1186	V>M		No	ExAC gnomAD
rs1557063113	1187	R>C		No	gnomAD
rs61741723	1187	R>H		No	ESP ExAC TOPMed gnomAD
rs2091962731	1188	V>A		No	Ensembl
rs782672041	1188	V>L		No	ExAC TOPMed gnomAD
rs782672041 COSM3747374 COSM3747373	1188	V>M	liver [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs868963669	1189	H>N		No	1000Genomes
rs868963669	1189	H>Y		No	1000Genomes
rs1381246310	1190	I>V		No	Ensembl
rs1557063131	1191	G>S		No	TOPMed gnomAD
rs201116168	1192	R>C		No	ExAC TOPMed gnomAD
rs782623122	1192	R>H		No	ExAC TOPMed gnomAD
rs377669094	1193	G>S		No	ESP ExAC TOPMed gnomAD
rs782162616	1194	E>D		No	ExAC TOPMed gnomAD
rs781988597	1194	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1557063139	1195	C>R		No	TOPMed gnomAD
rs781932434	1199	T>M		No	ExAC TOPMed gnomAD
rs2091963051	1200	L>F		No	TOPMed
rs782741142	1201	T>K		No	ExAC TOPMed gnomAD
TCGA novel	1201	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs370950098 COSM4107831 COSM4107830 COSM4107832	1202	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs376345505	1202	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs376345505	1202	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs370950098	1202	R>S		No	ESP ExAC TOPMed gnomAD
rs1335523852	1205	L>V		No	TOPMed gnomAD
rs782452845	1207	C>F		No	ExAC gnomAD
rs782707297	1208	E>K		No	ExAC TOPMed gnomAD
rs782707297	1208	E>Q		No	ExAC TOPMed gnomAD
rs892512676	1209	P>A		No	TOPMed gnomAD
rs782475713	1209	P>L		No	ExAC TOPMed gnomAD
rs892512676	1209	P>S		No	TOPMed gnomAD
rs868946447	1211	A>V		No	TOPMed gnomAD
rs782540666	1212	H>Q		No	1000Genomes ExAC TOPMed gnomAD
rs2091963375	1212	H>R		No	gnomAD
rs377690692	1213	A>T		No	ESP ExAC TOPMed gnomAD
rs782190401	1214	P>L		No	ExAC TOPMed gnomAD
rs781965227	1215	Q>K		No	ExAC TOPMed gnomAD
rs1167177022	1215	Q>R		No	TOPMed gnomAD
rs1603248097	1217	A>T		No	Ensembl
rs370437111	1221	G>S		No	ESP ExAC TOPMed gnomAD
rs2148427012	1223	P>T		No	Ensembl
rs781980952	1226	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1027526034	1229	M>K		No	TOPMed gnomAD
rs1027526034	1229	M>T		No	TOPMed gnomAD
rs1557063234	1229	M>V		No	gnomAD
TCGA novel	1230	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2091964710	1230	G>S		No	TOPMed
rs2091964744	1232	V>M		No	TOPMed
rs782242697	1239	V>M		No	ExAC gnomAD
rs782414899	1240	Q>E		No	ExAC
rs1443740375	1240	Q>H		No	TOPMed
rs2091964865	1240	Q>L		No	gnomAD
rs1355086646	1241	Y>F		No	TOPMed
rs1427606303	1242	E>*		No	TOPMed gnomAD
rs1427606303	1242	E>Q		No	TOPMed gnomAD
rs2091964974	1243	A>P		No	TOPMed gnomAD
rs2091964974	1243	A>T		No	TOPMed gnomAD
rs782181575	1244	E>K		No	ExAC gnomAD
rs2091965017	1245	P>L		No	TOPMed
rs782360679	1245	P>S		No	ExAC gnomAD
rs782360679	1245	P>T		No	ExAC gnomAD
rs782134820	1246	P>L		No	ExAC TOPMed gnomAD
rs782157150	1248	S>F		No	TOPMed gnomAD
rs782152760	1248	S>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs782157150	1248	S>Y		No	TOPMed gnomAD
CA415124975 RCV000512712 rs1557063267	1249	A>T		No	ClinGen ClinVar Ensembl dbSNP
rs781787378	1252	V>A		No	ExAC TOPMed gnomAD
rs868924750	1252	V>M		No	TOPMed gnomAD
rs2091965233	1253	E>K		No	Ensembl
rs782718397	1254	A>D		No	ExAC gnomAD
rs782718397	1254	A>V		No	ExAC gnomAD
rs1557063276	1255	Q>*		No	TOPMed gnomAD
rs1557063276	1255	Q>K		No	TOPMed gnomAD
rs1471186672	1257	G>D		No	gnomAD
rs944707794	1257	G>S		No	Ensembl
rs1557063287	1258	V>A		No	TOPMed gnomAD
rs140301774	1258	V>M		No	ESP ExAC TOPMed gnomAD
rs782679434	1259	G>A		No	ExAC TOPMed gnomAD
rs2091965428	1259	G>S		No	Ensembl
rs1482279481	1260	M>T		No	TOPMed
rs2091965495	1261	G>D		No	gnomAD
rs1282838584	1261	G>S		No	TOPMed gnomAD
rs781886576	1262	A>T		No	ExAC gnomAD
rs2091965546	1264	V>A		No	Ensembl
rs2091965602	1266	I>M		No	TOPMed
rs868919382	1267	A>V		No	Ensembl
rs150314931	1268	A>T		No	ESP ExAC TOPMed gnomAD
rs1225021505	1271	L>P		No	TOPMed gnomAD
rs2091965769	1274	L>F		No	Ensembl
rs371794104	1275	M>R		No	ESP ExAC TOPMed gnomAD
rs371794104	1275	M>T		No	ESP ExAC TOPMed gnomAD
rs781976995	1278	H>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs2091968038	1278	H>R		No	TOPMed
rs1603248412	1279	K>N		No	Ensembl
rs1557063381	1281	K>R		No	gnomAD
rs1557063382	1282	Q>E		No	gnomAD
rs782284173	1282	Q>R		No	ExAC gnomAD
rs1557063389	1283	A>G		No	TOPMed gnomAD
rs1557063384	1283	A>T		No	gnomAD
rs1557063389	1283	A>V		No	TOPMed gnomAD
rs782396757	1285	R>Q		No	ExAC TOPMed gnomAD
COSM4807696 COSM4807694 COSM4807695	1285	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2091968240	1287	Y>C		No	TOPMed
TCGA novel	1288	Q>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2091968299	1290	V>A		No	TOPMed
rs1557063402	1292	V>A		No	gnomAD
rs1557063401	1292	V>M		No	gnomAD
rs966022575	1293	Q>H		No	Ensembl
rs1206334388	1298	E>G		No	TOPMed
rs1557063407	1299	T>N		No	gnomAD
rs1557063407	1299	T>S		No	gnomAD
rs2091968537	1300	G>A		No	TOPMed gnomAD
rs782819171	1300	G>S		No	ExAC TOPMed gnomAD
rs1319715193	1301	V>M		No	TOPMed gnomAD
rs1297524356	1302	G>R		No	TOPMed
rs2091968641	1304	Q>H		No	TOPMed
rs782694084	1305	C>W		No	ExAC TOPMed gnomAD
rs781835077	1306	R>C		No	ExAC TOPMed gnomAD
rs201105227	1306	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2091968718	1307	K>E		No	Ensembl
rs1396741166	1307	K>M		No	TOPMed
rs1396741166	1307	K>T		No	TOPMed
COSM1599024 COSM1117505	1311	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1557063454	1312	L>F		No	gnomAD
rs376295320	1313	M>V		No	ESP ExAC TOPMed gnomAD
rs1373305496	1314	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs1386280727	1316	M>I		No	TOPMed
rs1389267527	1317	T>N		No	TOPMed gnomAD
rs1557063465	1318	D>H		No	TOPMed gnomAD
rs1557063465	1318	D>N		No	TOPMed gnomAD
rs1557063470	1319	L>H		No	gnomAD
rs149518255	1321	S>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1557063478	1321	S>T		No	gnomAD
rs782642884	1322	D>N		No	ExAC TOPMed gnomAD
rs782642884	1322	D>Y		No	ExAC TOPMed gnomAD
COSM1117506 COSM1599023	1323	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs782405659	1324	E>V		No	ExAC TOPMed gnomAD
rs374119831	1325	G>D		No	ESP ExAC TOPMed gnomAD
rs188069097	1325	G>S		No	1000Genomes ExAC TOPMed gnomAD
rs781827931	1327	G>R		No	1000Genomes ExAC TOPMed gnomAD
rs1027424282	1329	P>R		No	TOPMed
rs1482610323	1330	F>L		No	Ensembl
rs782036047	1332	D>A		No	ExAC gnomAD
rs782374659	1332	D>Y		No	ExAC TOPMed gnomAD
rs782142714	1334	R>C		No	ExAC TOPMed gnomAD
rs782142714	1334	R>G		No	ExAC TOPMed gnomAD
rs782709310	1334	R>H		No	ExAC gnomAD
rs138971273	1335	T>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1232652447	1337	A>T		No	TOPMed gnomAD
COSM4840780 rs200530402 COSM4840781 COSM137289	1338	E>K	Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP NCI-TCGA TOPMed gnomAD
COSM4107833 rs781808141 COSM4107834 COSM4107835	1339	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs782437849	1339	R>H		No	ExAC TOPMed gnomAD
COSM1648252 COSM755753	1340	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs782206592	1340	A>T		No	ExAC TOPMed gnomAD
rs1557063526	1341	F>I		No	Ensembl
TCGA novel	1343	P>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1171592133	1344	G>D		No	TOPMed gnomAD
rs1557063533	1345	H>Q		No	gnomAD
rs782639579	1345	H>Y		No	ExAC TOPMed gnomAD
rs2148428061	1346	G>S		No	Ensembl
rs1557063538	1347	G>A		No	gnomAD
rs142851201	1347	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs1557063541	1348	C>Y		No	Ensembl
rs966756251	1349	P>L		No	TOPMed gnomAD
rs966756251	1349	P>R		No	TOPMed gnomAD
rs1557063549	1354	P>T		No	gnomAD
rs1485864065	1355	E>D		No	TOPMed gnomAD
TCGA novel	1355	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1355	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1557063550	1356	G>R		No	gnomAD
TCGA novel	1357	P>A	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM4399715 COSM4399716 rs1557063552	1359	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs781989622	1360	D>E		No	ExAC TOPMed gnomAD
rs1200018001	1360	D>G		No	TOPMed gnomAD
rs782004165	1361	G>C		No	ExAC TOPMed gnomAD
rs782119260	1361	G>D		No	ExAC TOPMed gnomAD
rs782004165	1361	G>S		No	ExAC TOPMed gnomAD
rs781895505	1363	C>R		No	ExAC TOPMed gnomAD
rs781895505	1363	C>S		No	ExAC TOPMed gnomAD
TCGA novel	1363	C>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1557063561	1365	T>I		No	gnomAD
rs782068600 COSM3733318 COSM3733317	1367	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs782100931 COSM5134224 COSM5134225	1367	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs782068600	1367	R>S		No	ExAC TOPMed gnomAD
rs1341410243	1368	Q>H		No	TOPMed gnomAD
COSM4107839 COSM4107840	1370	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs201437211	1371	T>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs201437211	1371	T>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1660559683	1372	Q>H		No	TOPMed
rs2091971457	1373	L>V		No	Ensembl
rs1386669262	1375	N>D		No	TOPMed
rs2091971548	1377	L>F		No	Ensembl
rs1557063577	1378	N>K		No	gnomAD
rs1557063578	1379	S>N		No	gnomAD
rs1557063578	1379	S>T		No	gnomAD
rs782389181	1381	L>F		No	1000Genomes ExAC TOPMed gnomAD
rs199661205	1382	F>L		No	1000Genomes ExAC gnomAD
rs1557063585	1384	L>F		No	gnomAD
rs2148428187	1384	L>P		No	Ensembl
rs1557063587	1385	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1557063647	1387	I>M		No	gnomAD
rs2091973203	1387	I>T		No	Ensembl
rs2091973245	1390	L>Q		No	Ensembl
rs1412968429	1391	E>G		No	TOPMed
rs1557063653	1391	E>K		No	gnomAD
rs557107879	1392	E>K		No	ExAC TOPMed gnomAD
rs557107879	1392	E>Q		No	ExAC TOPMed gnomAD
rs1161282905	1394	P>L		No	TOPMed gnomAD
RCV000879486 rs150648419	1395	S>N		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs150648419	1395	S>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2091973385	1397	S>P		No	Ensembl
rs966567963	1397	S>Y		No	gnomAD
rs1720499680	1398	Q>R		No	Ensembl
rs782548246	1399	R>G		No	ExAC gnomAD
rs782576689	1399	R>K		No	ExAC TOPMed gnomAD
rs1000728365	1400	D>N		No	Ensembl
rs2091973523	1400	D>V		No	Ensembl
rs1189414694	1401	R>C		No	TOPMed
rs782360488 COSM3764971 COSM3764970	1401	R>H	Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1557063661	1403	H>Q		No	TOPMed gnomAD
rs2091973576	1403	H>R		No	TOPMed
rs2091973614	1406	S>L		No	gnomAD
rs1557063665	1409	S>L		No	gnomAD
rs1603248832	1410	L>P		No	Ensembl
rs34054116	1411	A>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs34054116	1411	A>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs782817411	1413	H>Q		No	ExAC TOPMed gnomAD
rs781918562	1414	G>R		No	ExAC TOPMed gnomAD
rs781918562	1414	G>S		No	ExAC TOPMed gnomAD
rs782718143	1417	E>A		No	ExAC
rs1557063681	1417	E>Q		No	gnomAD
rs782718143	1417	E>V		No	ExAC
rs2091973836	1418	Y>H		No	TOPMed
rs1305076624	1419	L>M		No	TOPMed
rs1436531616	1420	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1557063692	1421	D>N		No	gnomAD
rs782797156	1422	I>V		No	ExAC TOPMed
rs970937749	1423	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs1321448343	1423	M>T		No	TOPMed
rs1557063700	1423	M>V		No	gnomAD
rs781811393	1424	R>S		No	ExAC gnomAD
COSM1599021 COSM1117508	1425	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs781826425	1428	G>S		No	ExAC TOPMed gnomAD
rs2091974138	1429	D>E		No	Ensembl
rs781899470	1430	L>V		No	1000Genomes ExAC TOPMed gnomAD
rs370364112	1431	A>V		No	ESP ExAC TOPMed gnomAD
rs1048660836	1432	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs2091974284	1433	H>R		No	Ensembl
rs1388549943	1433	H>Y		No	TOPMed
rs1557063713	1434	Y>D		No	gnomAD
TCGA novel	1434	Y>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM1221304 rs782577261	1435	V>M	large_intestine [Cosmic]	No	cosmic curated ExAC gnomAD
rs1557063719	1437	R>K		No	gnomAD
TCGA novel	1440	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs782177378	1440	K>R		No	ExAC TOPMed gnomAD
rs2091974452	1441	L>F		No	Ensembl
rs1557063722	1442	M>L		No	gnomAD
rs2091974503	1442	M>T		No	Ensembl
rs1557063722	1442	M>V		No	gnomAD
rs2091974515	1444	R>C		No	gnomAD
rs782352445	1444	R>H		No	ExAC TOPMed gnomAD
rs2091974555	1445	R>K		No	Ensembl
rs2148429000	1446	T>K		No	Ensembl
TCGA novel rs782278086	1447	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA ExAC TOPMed gnomAD
rs782331949	1449	M>T		No	ExAC TOPMed gnomAD
rs1159021442	1449	M>V		No	TOPMed gnomAD
rs1557063802	1451	E>*		No	gnomAD
rs368710818	1451	E>D		No	ESP TOPMed
rs2091977353	1451	E>G		No	TOPMed
rs781921372	1455	T>A		No	ExAC TOPMed gnomAD
rs1557063807	1455	T>S		No	gnomAD
rs1557063809	1459	S>P		No	gnomAD
rs2091977432	1461	C>S		No	TOPMed
rs2091977447	1462	L>Q		No	TOPMed
rs782006902	1464	A>G		No	ExAC TOPMed gnomAD
COSM1221305 COSM5164448 rs782351638	1464	A>T	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs782115691	1467	R>K		No	ExAC TOPMed gnomAD
rs144474723	1468	E>K		No	ESP
rs2091980710	1468	E>V		No	TOPMed
rs2091980766	1469	V>A		No	TOPMed
rs375875993	1469	V>L		No	ESP TOPMed gnomAD
rs375875993	1469	V>M		No	ESP TOPMed gnomAD
rs1557063906	1470	A>G		No	gnomAD
rs1310280930	1470	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1557063906	1470	A>V		No	gnomAD
TCGA novel	1471	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2091980812	1473	P>S		No	Ensembl
rs146671037	1474	L>P		No	ESP ExAC TOPMed gnomAD
rs782730938	1476	M>L		No	ExAC gnomAD
rs782730938	1476	M>V		No	ExAC gnomAD
rs781997851	1478	F>L		No	ExAC gnomAD
rs1369583250	1479	R>W		No	TOPMed
TCGA novel	1480	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2091980982	1481	I>T		No	gnomAD
rs1557063914	1482	Q>H		No	TOPMed gnomAD
rs1467132797	1482	Q>R		No	TOPMed
rs2091981051	1483	Y>H		No	TOPMed
rs782817526	1484	Q>E		No	ExAC gnomAD
rs781810671	1486	D>E		No	ExAC
rs782453757	1488	G>D		No	ExAC gnomAD
rs2091981121	1489	P>L		No	gnomAD
rs2091981170	1490	V>A		No	TOPMed
rs1557063925	1490	V>M		No	gnomAD
rs2091981187	1492	A>T		No	TOPMed gnomAD
rs2091981219	1493	V>M		No	TOPMed gnomAD
COSM1599020 COSM1117510	1495	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs781830053	1495	G>S		No	ExAC TOPMed gnomAD
rs782640225	1497	A>S		No	ExAC gnomAD
rs782640225	1497	A>T		No	ExAC gnomAD
rs868939578	1499	R>Q		No	TOPMed
rs2091981365	1503	D>N		No	TOPMed
rs1482580213	1505	R>C		No	TOPMed gnomAD
COSM1221302 rs782590076	1505	R>H	large_intestine [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs1194232949	1508	R>Q		No	TOPMed gnomAD
rs2091981458 COSM1599019 COSM1117511	1508	R>W	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated gnomAD
rs984250524	1509	E>K		No	TOPMed gnomAD
rs1018547890	1510	D>H		No	TOPMed gnomAD
rs1018547890	1510	D>N		No	TOPMed gnomAD
rs782539109	1511	V>L		No	1000Genomes ExAC TOPMed gnomAD
rs782539109	1511	V>M		No	1000Genomes ExAC TOPMed gnomAD
rs1557063960	1512	E>Q		No	gnomAD
rs964681482	1513	F>I		No	Ensembl
rs1557063969	1515	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs782071212 COSM457058	1517	T>M	breast [Cosmic]	No	cosmic curated ExAC gnomAD
rs1290700778	1519	M>T		No	TOPMed gnomAD
rs781970640	1521	L>M		No	ExAC TOPMed gnomAD
rs782081945	1523	G>R		No	ExAC TOPMed gnomAD
rs782172275	1525	G>A		No	ExAC TOPMed gnomAD
rs781861924	1525	G>R		No	ExAC TOPMed gnomAD
rs782172275	1525	G>V		No	ExAC TOPMed gnomAD
rs1557064003	1526	A>T		No	1000Genomes TOPMed gnomAD
rs2091981985	1527	G>V		No	Ensembl
rs1557064013	1528	G>E		No	gnomAD
rs1557064008	1528	G>R		No	TOPMed gnomAD
rs1603249350	1529	A>V		No	TOPMed
rs1402462072	1530	A>P		No	Ensembl
rs1402462072	1530	A>T		No	Ensembl
COSM1117512 COSM1599018	1531	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs782602150	1532	S>N		No	ExAC
rs879986670	1534	E>K		No	gnomAD
rs782641437	1535	M>I		No	ExAC TOPMed gnomAD
VAR_019682 rs5987155	1535	M>T		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1414126396	1536	Q>L		No	TOPMed gnomAD
rs1414126396	1536	Q>R		No	TOPMed gnomAD
rs369982782	1537	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs372579744	1537	R>H		No	ESP ExAC TOPMed gnomAD
rs372579744	1537	R>L		No	ESP ExAC TOPMed gnomAD
rs369982782	1537	R>S		No	ESP ExAC TOPMed gnomAD
rs1189346572	1538	V>M		No	TOPMed gnomAD
rs1557064050	1540	A>V		No	gnomAD
rs1257094238	1541	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs148020794	1541	R>W		No	ESP ExAC TOPMed gnomAD
rs1557064062	1542	V>L		No	TOPMed gnomAD
rs1557064063	1543	L>F		No	gnomAD
rs782000261	1544	D>N		No	ExAC TOPMed gnomAD
rs1603249387	1545	T>M		No	Ensembl
rs782420793	1548	I>V		No	ExAC gnomAD
rs1557064077	1549	T>I		No	TOPMed gnomAD
rs1557064077	1549	T>N		No	TOPMed gnomAD
rs1270580199	1553	E>K		No	TOPMed gnomAD
rs1209839776	1554	K>E		No	TOPMed
rs1329059623	1554	K>M		No	TOPMed
rs1557064090	1555	V>E		No	gnomAD
rs1569542156	1556	L>S		No	Ensembl
COSM3559540 COSM3559541	1558	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs782695147	1559	V>D		No	ExAC TOPMed gnomAD
rs375753845	1559	V>L		No	ESP ExAC TOPMed gnomAD
rs1557064101	1560	Y>*		No	TOPMed gnomAD
rs868906899	1562	G>D		No	Ensembl
rs368893732	1562	G>S		No	ESP ExAC TOPMed gnomAD
rs782073828	1563	T>N		No	ExAC TOPMed gnomAD
rs1603249425	1563	T>P		No	Ensembl
TCGA novel	1563	T>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1603249432	1565	F>L		No	Ensembl
rs1311512031	1567	Q>E		No	TOPMed
rs2091983168	1567	Q>H		No	TOPMed
rs1449877215	1568	R>K		No	TOPMed gnomAD
rs2091983189	1568	R>W		No	TOPMed
rs1390117971	1572	H>N		No	TOPMed
rs1321157013	1573	A>S		No	TOPMed gnomAD
rs1321157013	1573	A>T		No	TOPMed gnomAD
rs781853080	1573	A>V		No	ExAC TOPMed gnomAD
rs782413172	1578	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	1000Genomes NCI-TCGA gnomAD
rs1557064222 COSM5130782 COSM1466607	1579	R>C	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs1343910080 COSM1683005 COSM1683006	1579	R>H	large_intestine [Cosmic]	No	cosmic curated TOPMed
rs1343910080	1579	R>L		No	TOPMed
rs782484213	1583	A>V		No	ExAC TOPMed gnomAD
rs201042784	1584	G>S		No	1000Genomes ExAC TOPMed gnomAD
TCGA novel	1585	H>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs868937028	1586	L>M		No	TOPMed gnomAD
rs782257618	1587	T>I		No	ExAC TOPMed gnomAD
rs1557064241	1589	S>*		No	gnomAD
rs1557064241	1589	S>L		No	gnomAD
rs1557064241	1589	S>W		No	gnomAD
rs145978031	1591	E>D		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2091986563	1592	D>N		No	Ensembl
rs1603249646	1594	T>P		No	Ensembl
rs146832392	1596	V>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs146832392	1596	V>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs138779643	1596	V>L		No	ESP ExAC gnomAD
rs138779643	1596	V>M		No	ESP ExAC gnomAD
rs782173689	1598	Q>H		No	ExAC TOPMed gnomAD
rs1603249659	1599	N>T		No	Ensembl
rs782803873	1599	N>Y		No	ExAC TOPMed gnomAD
rs782437322	1600	H>Q		No	ExAC TOPMed gnomAD
rs781808946	1600	H>Y		No	ExAC gnomAD
rs782755006	1601	W>*		No	ExAC TOPMed gnomAD
rs200030126	1602	K>N		No	ExAC TOPMed gnomAD
rs782627655	1603	R>I		No	ExAC TOPMed gnomAD
rs782627655	1603	R>K		No	ExAC TOPMed gnomAD
rs1603249670	1603	R>S		No	Ensembl
rs782295733	1604	L>F		No	ExAC gnomAD
rs782295733	1604	L>V		No	ExAC gnomAD
rs147439766 RCV000996045	1606	T>I		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs1603249681	1606	T>P		No	Ensembl
rs199599060	1607	L>F		No	1000Genomes ExAC TOPMed gnomAD
rs1603249690	1608	Q>*		No	Ensembl
rs782244373	1608	Q>H		No	ExAC gnomAD
rs2091987154	1609	H>Y		No	Ensembl
rs1557064265	1610	Y>*		No	gnomAD
rs1603249697	1611	K>R		No	Ensembl
rs1557064574	1613	P>A		No	gnomAD
rs2092003216	1616	A>E		No	TOPMed
rs2092003216	1616	A>G		No	TOPMed
rs1557064575	1617	T>I		No	gnomAD
COSM4107844 COSM4107843	1618	V>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1557064576	1618	V>M		No	gnomAD
rs1557064580 COSM3372151 COSM3372152	1620	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs782241170	1621	V>I		No	1000Genomes ExAC TOPMed gnomAD
rs1402760182	1623	Q>R		No	TOPMed
rs1557064587	1624	L>P		No	TOPMed gnomAD
rs1557064593	1625	H>R		No	TOPMed gnomAD
rs1408267129	1625	H>Y		No	TOPMed gnomAD
rs782507457	1626	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes NCI-TCGA TOPMed gnomAD
rs782668477	1626	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1244516232	1628	S>N		No	TOPMed
rs2148432717	1630	I>F		No	Ensembl
rs1460853789	1633	S>N		No	TOPMed gnomAD
rs2092003673	1634	L>P		No	Ensembl
rs2092003649	1634	L>V		No	Ensembl
rs782271975	1635	A>V		No	ExAC gnomAD
TCGA novel	1636	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs782318199	1636	Q>K		No	ExAC gnomAD
rs1557064612	1641	G>R		No	gnomAD
rs191126455	1642	E>D		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1317223148	1642	E>K		No	TOPMed gnomAD
rs1223493587	1643	N>Y		No	TOPMed
rs782424228	1645	P>T		No	ExAC TOPMed gnomAD
rs782023871	1646	T>M		No	ExAC TOPMed gnomAD
rs2092007481	1647	L>M		No	TOPMed
rs1284313486	1650	G>S		No	TOPMed gnomAD
VAR_068807 rs34762690	1651	E>A		No	UniProt Ensembl dbSNP
rs34762690	1651	E>G		No	Ensembl
rs201844222	1651	E>K		No	ESP ExAC TOPMed gnomAD
rs782087499	1652	E>D		No	ExAC TOPMed gnomAD
rs1569542197	1652	E>G		No	TOPMed
rs781974282	1653	G>A		No	ExAC TOPMed gnomAD
rs781974282	1653	G>E		No	ExAC TOPMed gnomAD
rs782787926	1653	G>R		No	ExAC TOPMed gnomAD
rs781974282	1653	G>V		No	ExAC TOPMed gnomAD
rs782787926	1653	G>W		No	ExAC TOPMed gnomAD
rs782790314	1654	G>A		No	ExAC TOPMed gnomAD
rs782790314	1654	G>V		No	ExAC TOPMed gnomAD
rs1557064736	1655	V>A		No	gnomAD
COSM4612518 COSM1466608 rs782076287	1655	V>C	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs782445875	1655	V>M		No	ExAC gnomAD
rs2148433393	1659	H>Q		No	Ensembl
rs1557064744	1661	V>A		No	gnomAD
rs1603250800	1663	A>T		No	Ensembl
rs1265472852	1664	T>N		No	TOPMed gnomAD
rs1265472852	1664	T>S		No	TOPMed gnomAD
rs372327696 COSM1466609 COSM4911192	1665	E>K	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ESP ExAC NCI-TCGA gnomAD
rs782682576	1666	E>A		No	ExAC gnomAD
rs1179057801	1667	P>S		No	TOPMed gnomAD
rs2092008124	1668	E>A		No	Ensembl
rs1480962965	1668	E>K		No	TOPMed
rs1251258499	1669	G>R		No	TOPMed
rs1251258499	1669	G>W		No	TOPMed
rs781957820	1670	A>V		No	TOPMed gnomAD
rs781924481	1671	K>T		No	1000Genomes ExAC TOPMed gnomAD
rs200641103	1672	V>E		No	1000Genomes ExAC TOPMed gnomAD
rs200641103	1672	V>G		No	1000Genomes ExAC TOPMed gnomAD
rs782575528	1672	V>M		No	ExAC TOPMed gnomAD
rs782348820	1673	R>Q		No	ExAC TOPMed gnomAD
rs1391474144	1673	R>W		No	TOPMed gnomAD
COSM3780390 COSM3780389 rs782412893	1678	R>Q	pancreas [Cosmic]	No	cosmic curated ExAC gnomAD
rs782236615 COSM5426767 COSM5426768	1678	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1557064787	1679	E>D		No	gnomAD
rs199536649	1680	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs199536649	1680	R>G		No	1000Genomes ExAC TOPMed gnomAD
rs782063016	1680	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs199536649	1680	R>S		No	1000Genomes ExAC TOPMed gnomAD
rs782308553	1681	E>K		No	ExAC TOPMed gnomAD
rs1557064796	1682	P>S		No	TOPMed gnomAD
rs2092008657	1684	R>G		No	Ensembl
rs2092008677	1684	R>M		No	TOPMed
rs369074199	1686	K>N		No	ESP TOPMed gnomAD
rs1161484014	1687	A>G		No	TOPMed gnomAD
rs782079909	1687	A>P		No	ExAC TOPMed gnomAD
rs782079909	1687	A>S		No	ExAC TOPMed gnomAD
rs1557064802	1689	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs781902036	1692	Y>C		No	ExAC gnomAD
rs1249993822	1694	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1557064811	1695	R>H		No	gnomAD
rs1557064816	1698	S>P		No	gnomAD
rs1557064818	1699	M>V		No	gnomAD
rs782055888	1702	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs2092010780	1704	Q>K		No	TOPMed
rs372812213	1705	K>R		No	ESP ExAC TOPMed gnomAD
COSM5153794 COSM5153793 COSM1466610	1705	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs570470027	1706	F>L		No	Ensembl
rs1557064882	1707	V>A		No	gnomAD
rs781894023	1708	D>E		No	ExAC TOPMed gnomAD
rs1557064884	1709	D>N		No	gnomAD
rs144227320	1710	T>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs148745452	1712	Q>H		No	ESP ExAC TOPMed gnomAD
rs2092011076	1713	A>T		No	Ensembl
rs1557064890	1714	I>V		No	gnomAD
rs2092011116	1716	S>G		No	TOPMed
rs782483104	1716	S>N		No	ExAC gnomAD
rs782483104	1716	S>T		No	ExAC gnomAD
rs142300328	1717	V>L		No	ESP ExAC TOPMed gnomAD
rs142300328 COSM1466611	1717	V>M	large_intestine [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs782202818	1718	N>K		No	ExAC TOPMed gnomAD
rs1426766177	1719	R>Q		No	TOPMed gnomAD
rs782674766	1719	R>W		No	ExAC gnomAD
rs2092011339	1722	P>S		No	TOPMed
rs1366341464	1723	I>V		No	TOPMed
COSM4107848 COSM4107847	1724	A>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs377395548	1724	A>T		No	ESP TOPMed gnomAD
rs2092011428	1724	A>V		No	Ensembl
rs1557064919	1725	V>A		No	gnomAD
rs781971067	1725	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1375236498	1728	L>V		No	TOPMed gnomAD
rs1557064929	1729	F>S		No	gnomAD
COSM1490649 COSM5231017	1730	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1194383256	1730	D>N		No	TOPMed
rs2092011617	1731	L>F		No	Ensembl
rs782175065	1733	D>N		No	ExAC TOPMed gnomAD
rs2092011722	1734	E>D		No	TOPMed
rs1557064940	1734	E>K		No	TOPMed gnomAD
rs1557064942	1735	L>P		No	gnomAD
rs782778557	1737	E>D		No	ExAC TOPMed gnomAD
rs1224327874	1737	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs782041663	1739	H>Q		No	ExAC TOPMed gnomAD
rs1341418700	1740	G>D		No	TOPMed
rs2092011916	1740	G>S		No	TOPMed
rs370954582	1742	E>K		No	ESP TOPMed gnomAD
rs370954582	1742	E>Q		No	ESP TOPMed gnomAD
rs782757038	1745	G>R		No	ExAC gnomAD
rs934807409	1746	T>I		No	Ensembl
rs1557064966	1749	I>M		No	TOPMed gnomAD
rs1284950509	1752	T>S		No	TOPMed
COSM3236026 COSM3236025 rs1557065078	1758	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
COSM4762847 COSM4762846 rs1557065075	1758	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1557065083	1760	W>*		No	gnomAD
rs201223941	1761	V>M		No	ESP ExAC TOPMed gnomAD
rs914741321	1763	A>S		No	gnomAD
rs914741321	1763	A>T		No	gnomAD
TCGA novel	1764	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs782519182	1765	K>N		No	ExAC TOPMed gnomAD
COSM1117516 COSM1599014 rs782688715	1766	N>S	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1408194532	1767	P>A		No	TOPMed
rs782563364	1769	L>F		No	ExAC gnomAD
rs373926896	1770	I>N		No	ESP ExAC TOPMed gnomAD
rs782334408	1772	D>A		No	ExAC gnomAD
COSM1599013 COSM1117517	1773	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs139661833	1774	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs368444846	1775	V>L		No	ESP ExAC TOPMed gnomAD
rs368444846	1775	V>M		No	ESP ExAC TOPMed gnomAD
rs1184187177	1776	S>L		No	TOPMed gnomAD
rs2092015726	1778	N>H		No	Ensembl
rs781953533	1778	N>K		No	ExAC TOPMed gnomAD
rs2092015744	1778	N>S		No	TOPMed
rs782133606	1779	V>M		No	ExAC gnomAD
TCGA novel	1781	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs371914178	1781	A>T		No	ESP ExAC TOPMed gnomAD
rs1217660395	1783	L>F		No	TOPMed
rs781982608	1783	L>H		No	Ensembl
rs1448968248	1784	A>V		No	TOPMed gnomAD
rs1557065129	1786	I>V		No	Ensembl
rs1003955955	1787	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
TCGA novel	1788	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs781909364	1789	T>N		No	ExAC TOPMed gnomAD
rs1286924099	1789	T>P		No	TOPMed gnomAD
rs375450207	1791	I>N		No	ESP ExAC TOPMed gnomAD
rs375450207	1791	I>T		No	ESP ExAC TOPMed gnomAD
rs782152232	1791	I>V		No	ExAC
rs2092016100	1796	T>I		No	TOPMed gnomAD
COSM1117518 rs781784671 COSM1599012	1797	S>L	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs202202015	1798	E>K		No	TOPMed gnomAD
rs1379068546	1801	V>M		No	TOPMed gnomAD
rs781865529	1802	G>D		No	ExAC TOPMed gnomAD
TCGA novel	1803	R>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs2092016273	1803	R>Q		No	TOPMed
rs368531489	1803	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs1557065203	1804	D>N		No	gnomAD
rs1557065207	1809	K>E		No	gnomAD
COSM4107850 COSM4107849 COSM4107851	1809	K>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1648250 COSM755751 COSM1648249	1809	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs782547073	1810	L>R		No	ExAC gnomAD
rs1303243413	1813	A>T		No	TOPMed gnomAD
rs369580403	1814	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs1456905839	1814	R>W		No	TOPMed
rs2092018479	1815	E>D		No	TOPMed gnomAD
rs2092018500	1817	P>T		No	Ensembl
COSM5178342 COSM1466612 rs782313955	1818	R>C	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1410439897	1818	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs782313955	1818	R>S		No	ExAC TOPMed gnomAD
rs1728515858	1826	Y>D		No	TOPMed
rs1557065300	1828	A>S		No	gnomAD
rs782253397	1828	A>V		No	ExAC TOPMed gnomAD
rs1557065303	1829	D>G		No	gnomAD
TCGA novel	1829	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs146644526	1831	R>C		No	1000Genomes ESP ExAC TOPMed gnomAD
rs146644526	1831	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs782021262	1831	R>H		No	ExAC TOPMed gnomAD
rs2092019981	1832	Q>H		No	Ensembl
rs374980397	1832	Q>R		No	ESP ExAC TOPMed gnomAD
rs1031655394	1833	S>N		No	Ensembl
rs1265441530	1834	S>F		No	TOPMed
rs782354124	1835	P>L		No	ExAC TOPMed gnomAD
rs782354124	1835	P>Q		No	ExAC TOPMed gnomAD
rs139986679	1836	A>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1310065775	1841	M>T		No	TOPMed gnomAD
rs367877344	1842	N>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs2148435306	1843	S>Y		No	Ensembl
rs1240162355	1847	E>K		No	TOPMed gnomAD
rs1329168360	1850	G>R		No	TOPMed gnomAD
rs782149290	1852	Y>F		No	ExAC gnomAD
rs1557065407	1853	T>A		No	gnomAD
rs782709924	1853	T>I		No	ExAC TOPMed gnomAD
rs939639089 COSM1315330	1854	S>C	Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA
rs1224000962	1856	P>H		No	TOPMed
rs1557065415	1856	P>T		No	gnomAD
COSM4107853 COSM4107852	1858	C>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2092022696	1858	C>S		No	Ensembl
rs781790936	1860	E>K		No	ExAC gnomAD
TCGA novel	1864	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs782617221	1869	I>T		No	TOPMed gnomAD
rs368280793	1870	H>R		No	ESP ExAC TOPMed
rs149060321	1870	H>Y		No	ESP ExAC TOPMed gnomAD
rs898204288	1871	R>K		No	Ensembl
rs1557065436	1872	Y>C		No	gnomAD
rs1690948629	1873	Y>C		No	TOPMed
rs1557065439	1873	Y>H		No	gnomAD
rs781961323	1876	I>V		No	1000Genomes
rs1557065539	1877	I>L		No	gnomAD
rs145843639	1880	L>M		No	ESP ExAC TOPMed gnomAD
rs2092025538	1881	E>K		No	TOPMed gnomAD
rs1345961786	1882	E>G		No	TOPMed gnomAD
rs1603251867	1882	E>K		No	Ensembl
rs1274350639	1883	D>E		No	TOPMed
rs781831904	1884	P>H		No	ExAC gnomAD
rs782685997	1884	P>S		No	ExAC gnomAD
rs1231077936	1886	G>D		No	TOPMed
rs1379804084	1887	Q>P		No	TOPMed gnomAD
rs1557065554	1889	L>P		No	TOPMed gnomAD
rs2092025778	1890	Q>R		No	Ensembl
rs908101495	1891	L>M		No	TOPMed gnomAD
rs908101495	1891	L>V		No	TOPMed gnomAD
rs2092025838	1892	A>V		No	Ensembl
rs2148436065	1893	C>S		No	Ensembl
rs782240444	1894	R>C		No	ExAC TOPMed gnomAD
COSM3694430 rs973767706 COSM3694429	1894	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs973767706	1894	R>L		No	gnomAD
rs1414736407	1896	Q>R		No	TOPMed gnomAD
rs371248419	1899	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs782194744	1900	A>D		No	ExAC TOPMed gnomAD
rs782673164	1900	A>T		No	ExAC gnomAD
rs782194744	1900	A>V		No	ExAC TOPMed gnomAD
rs1557065587	1902	V>L		No	gnomAD
rs782313067	1903	E>*		No	ExAC TOPMed gnomAD
rs782313067	1903	E>K		No	ExAC TOPMed gnomAD
rs782323338	1904	N>K		No	1000Genomes TOPMed gnomAD
rs2092026228	1908	D>N		No	TOPMed
rs1177987495	1909	L>P		No	TOPMed gnomAD
rs1177987495	1909	L>R		No	TOPMed gnomAD

No associated diseases with Q9ULL4

13 regional properties for Q9ULL4

Type	Name	Position	InterPro Accession
domain	Sema domain	31 - 471	IPR001627
repeat	Plexin repeat	474 - 525	IPR002165
domain	IPT domain	834 - 925	IPR002909-1
domain	IPT domain	926 - 1012	IPR002909-2
domain	IPT domain	1014 - 1145	IPR002909-3
domain	IPT domain	1167 - 1242	IPR002909-4
domain	Plexin, cytoplasmic RasGAP domain	1327 - 1876	IPR013548
domain	PSI domain	473 - 526	IPR016201-1
domain	PSI domain	620 - 682	IPR016201-2
domain	PSI domain	787 - 833	IPR016201-3
domain	Plexin, TIG domain 1	533 - 619	IPR041019
domain	Plexin, TIG domain 2	691 - 786	IPR041362
domain	Plexin, cytoplasmic RhoGTPase-binding domain	1501 - 1618	IPR046800

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein	Colocalizes with RIT2/RIN at the plasma membrane
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cell surface	The external part of the cell wall and/or plasma membrane.
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.

4 GO annotations of molecular function

Name	Definition
cell-cell adhesion mediator activity	The binding by a cell-adhesion protein on the cell surface to an extracellular matrix component, to mediate adhesion of the cell to another cell.
protein domain specific binding	Binding to a specific domain of a protein.
Rho GDP-dissociation inhibitor binding	Binding to a Rho GDP-dissociation inhibitor protein.
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.

13 GO annotations of biological process

Name	Definition
cell chemotaxis	The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis).
homophilic cell adhesion via plasma membrane adhesion molecules	The attachment of a plasma membrane adhesion molecule in one cell to an identical molecule in an adjacent cell.
negative regulation of cell adhesion	Any process that stops, prevents, or reduces the frequency, rate or extent of cell adhesion.
negative regulation of cell migration	Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration.
negative regulation of GTPase activity	Any process that stops or reduces the rate of GTP hydrolysis by a GTPase.
negative regulation of lamellipodium assembly	Any process that decreases the rate, frequency or extent of the formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell.
positive chemotaxis	The directed movement of a motile cell or organism towards a higher concentration of a chemical.
positive regulation of axonogenesis	Any process that activates or increases the frequency, rate or extent of axonogenesis.
positive regulation of endothelial cell proliferation	Any process that activates or increases the rate or extent of endothelial cell proliferation.
positive regulation of neuron projection development	Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
regulation of cell shape	Any process that modulates the surface configuration of a cell.
semaphorin-plexin signaling pathway	The series of molecular signals generated as a consequence of a semaphorin receptor (composed of a plexin and a neurophilin) binding to a semaphorin ligand.
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
O75051	PLXNA2	Plexin-A2	Homo sapiens (Human)	SS
Q9UIW2	PLXNA1	Plexin-A1	Homo sapiens (Human)	EV SS
P51805	PLXNA3	Plexin-A3	Homo sapiens (Human)	SS
O15031	PLXNB2	Plexin-B2	Homo sapiens (Human)	SS
O43157	PLXNB1	Plexin-B1	Homo sapiens (Human)	EV SS
Q9HCM2	PLXNA4	Plexin-A4	Homo sapiens (Human)	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
Q9QY40	Plxnb3	Plexin-B3	Mus musculus (Mouse)	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
MCHAAQETPL	LHHFMAPVMA	RWPPFGLCLL	LLLLSPPPLP	LTGAHRFSAP	NTTLNHLALA
70	80	90	100	110	120
PGRGTLYVGA	VNRLFQLSPE	LQLEAVAVTG	PVIDSPDCVP	FRDPAECPQA	QLTDNANQLL
130	140	150	160	170	180
LVSSRAQELV	ACGQVRQGVC	ETRRLGDVAE	VLYQAEDPGD	GQFVAANTPG	VATVGLVVPL
190	200	210	220	230	240
PGRDLLLVAR	GLAGKLSAGV	PPLAIRQLAG	SQPFSSEGLG	RLVVGDFSDY	NNSYVGAFAD
250	260	270	280	290	300
ARSAYFVFRR	RGARAQAEYR	SYVARVCLGD	TNLYSYVEVP	LACQGQGLIQ	AAFLAPGTLL
310	320	330	340	350	360
GVFAAGPRGT	QAALCAFPMV	ELGASMEQAR	RLCYTAGGRG	PSGAEEATVE	YGVTSRCVTL
370	380	390	400	410	420
PLDSPESYPC	GDEHTPSPIA	GRQPLEVQPL	LKLGQPVSAV	AALQADGHMI	AFLGDTQGQL
430	440	450	460	470	480
YKVFLHGSQG	QVYHSQQVGP	PGSAISPDLL	LDSSGSHLYV	LTAHQVDRIP	VAACPQFPDC
490	500	510	520	530	540
ASCLQAQDPL	CGWCVLQGRC	TRKGQCGRAG	QLNQWLWSYE	EDSHCLHIQS	LLPGHHPRQE
550	560	570	580	590	600
QGQVTLSVPR	LPILDADEYF	HCAFGDYDSL	AHVEGPHVAC	VTPPQDQVPL	NPPGTDHVTV
610	620	630	640	650	660
PLALMFEDVT	VAATNFSFYD	CSAVQALEAA	APCRACVGSI	WRCHWCPQSS	HCVYGEHCPE
670	680	690	700	710	720
GERTIYSAQE	VDIQVRGPGA	CPQVEGLAGP	HLVPVGWESH	LALRVRNLQH	FRGLPASFHC
730	740	750	760	770	780
WLELPGELRG	LPATLEETAG	DSGLIHCQAH	QFYPSMSQRE	LPVPIYVTQG	EAQRLDNTHA
790	800	810	820	830	840
LYVILYDCAM	GHPDCSHCQA	ANRSLGCLWC	ADGQPACRYG	PLCPPGAVEL	LCPAPSIDAV
850	860	870	880	890	900
EPLTGPPEGG	LALTILGSNL	GRAFADVQYA	VSVASRPCNP	EPSLYRTSAR	IVCVTSPAPN
910	920	930	940	950	960
GTTGPVRVAI	KSQPPGISSQ	HFTYQDPVLL	SLSPRWGPQA	GGTQLTIRGQ	HLQTGGNTSA
970	980	990	1000	1010	1020
FVGGQPCPIL	EPVCPEAIVC	RTRPQAAPGE	AAVLVVFGHA	QRTLLASPFR	YTANPQLVAA
1030	1040	1050	1060	1070	1080
EPSASFRGGG	RLIRVRGTGL	DVVQRPLLSV	WLEADAEVQA	SRAQPQDPQP	RRSCGAPAAD
1090	1100	1110	1120	1130	1140
PQACIQLGGG	LLQCSTVCSV	NSSSLLLCRS	PAVPDRAHPQ	RVFFTLDNVQ	VDFASASGGQ
1150	1160	1170	1180	1190	1200
GFLYQPNPRL	APLSREGPAR	PYRLKPGHVL	DVEGEGLNLG	ISKEEVRVHI	GRGECLVKTL
1210	1220	1230	1240	1250	1260
TRTHLYCEPP	AHAPQPANGS	GLPQFVVQMG	NVQLALGPVQ	YEAEPPLSAF	PVEAQAGVGM
1270	1280	1290	1300	1310	1320
GAAVLIAAVL	LLTLMYRHKS	KQALRDYQKV	LVQLESLETG	VGDQCRKEFT	DLMTEMTDLS
1330	1340	1350	1360	1370	1380
SDLEGSGIPF	LDYRTYAERA	FFPGHGGCPL	QPKPEGPGED	GHCATVRQGL	TQLSNLLNSK
1390	1400	1410	1420	1430	1440
LFLLTLIHTL	EEQPSFSQRD	RCHVASLLSL	ALHGKLEYLT	DIMRTLLGDL	AAHYVHRNPK
1450	1460	1470	1480	1490	1500
LMLRRTETMV	EKLLTNWLSI	CLYAFLREVA	GEPLYMLFRA	IQYQVDKGPV	DAVTGKAKRT
1510	1520	1530	1540	1550	1560
LNDSRLLRED	VEFQPLTLMV	LVGPGAGGAA	GSSEMQRVPA	RVLDTDTITQ	VKEKVLDQVY
1570	1580	1590	1600	1610	1620
KGTPFSQRPS	VHALDLEWRS	GLAGHLTLSD	EDLTSVTQNH	WKRLNTLQHY	KVPDGATVGL
1630	1640	1650	1660	1670	1680
VPQLHRGSTI	SQSLAQRCPL	GENIPTLEDG	EEGGVCLWHL	VKATEEPEGA	KVRCSSLRER
1690	1700	1710	1720	1730	1740
EPARAKAIPE	IYLTRLLSMK	GTLQKFVDDT	FQAILSVNRP	IPIAVKYLFD	LLDELAEKHG
1750	1760	1770	1780	1790	1800
IEDPGTLHIW	KTNSLLLRFW	VNALKNPQLI	FDVRVSDNVD	AILAVIAQTF	IDSCTTSEHK
1810	1820	1830	1840	1850	1860
VGRDSPVNKL	LYAREIPRYK	QMVERYYADI	RQSSPASYQE	MNSALAELSG	NYTSAPHCLE
1870	1880	1890	1900
ALQELYNHIH	RYYDQIISAL	EEDPVGQKLQ	LACRLQQVAA	LVENKVTDL

Descriptions

Annotation based on sequence homology with O43157

Autoinhibitory domains (AIDs)

Accessory elements

References

Autoinhibited structure

Activated structure

1 structures for Q9ULL4

1783 variants for Q9ULL4

No associated diseases with Q9ULL4

13 regional properties for Q9ULL4

Functions

3 GO annotations of cellular component

4 GO annotations of molecular function

13 GO annotations of biological process

27 homologous proteins in AiPD