AiPD: Autoinhibited Protein Database

Q86SQ4

Gene name	ADGRG6
Protein name	Adhesion G-protein coupled receptor G6
Names	Developmentally regulated G-protein-coupled receptor, G-protein coupled receptor 126, Vascular inducible G protein-coupled receptor
Species	Homo sapiens (Human)
KEGG Pathway	hsa:57211
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

1129-1202 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1129-1202 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q86SQ4

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q86SQ4-F1	Predicted				AlphaFoldDB

946 variants for Q86SQ4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA200210 RCV000172977 rs749355583 RCV000186598	7	R>*	Lethal congenital contracture syndrome 9 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP
RCV002537602 rs145672534 CA4026564 RCV000906980	29	M>V	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4026607 rs202040079 RCV002540054 RCV000885707	68	M>V	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000900017 RCV002537527 CA4026888 rs144911800	451	V>I	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000172978 rs793888524 RCV000186599	716	Q>missing	Lethal congenital contracture syndrome 9 [ClinVar]	Yes	ClinVar dbSNP
VAR_075146	741	V>E	LCCS9; decreases the autoprocessing/cleavage of the receptor [UniProt]	Yes	UniProt
VAR_075147 rs793888525 CA200214 RCV000172979 RCV000186600	769	V>E	Lethal congenital contracture syndrome 9 LCCS9 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001330603 rs1443422483	824	A>P	Lethal congenital contracture syndrome 9 [ClinVar]	Yes	ClinVar dbSNP
CA4027411 VAR_054129 rs1262686 RCV000987796	1127	Q>R	Lethal congenital contracture syndrome 9 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA365885749 rs1295445199	2	M>I		No	ClinGen gnomAD
rs750859843 CA149605671	2	M>V		No	ClinGen Ensembl
CA4026552 rs756333358	4	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4026553 rs777999553	4	R>H		No	ClinGen ExAC gnomAD
CA149605672 rs1036848836	5	S>P		No	ClinGen TOPMed
CA4026554 rs749355583	7	R>G		No	ClinGen ExAC
CA365885776 rs1317407930	7	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs770972022 CA365885788	9	W>G		No	ClinGen ExAC TOPMed gnomAD
CA4026556 rs774281988	9	W>L		No	ClinGen ExAC gnomAD
rs770972022 CA4026555	9	W>R		No	ClinGen ExAC TOPMed gnomAD
rs1288909399 COSM281462 CA365885798 COSM281461	10	S>N	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1288909399 CA365885799	10	S>T		No	ClinGen TOPMed gnomAD
TCGA novel	11	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1245605905 CA365885816	12	H>L		No	ClinGen gnomAD
rs1217873370 CA365885813	12	H>Y		No	ClinGen TOPMed gnomAD
rs577919450 CA4026557	13	W>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1284570979 CA365885832	14	K>I		No	ClinGen TOPMed gnomAD
rs1386676000 CA365885837	15	W>*		No	ClinGen gnomAD
CA4026558 rs771990833	15	W>R		No	ClinGen ExAC gnomAD
CA365885852 rs1488263634	17	P>A		No	ClinGen gnomAD
CA4026559 rs775304054	18	S>N		No	ClinGen ExAC TOPMed gnomAD
CA365885872 rs1331329842	20	L>F		No	ClinGen TOPMed
CA4026561 rs763677717	21	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1402884135 CA365885887	22	F>L		No	ClinGen TOPMed gnomAD
CA365885897 rs1432847085	24	F>V		No	ClinGen TOPMed
CA365885898 rs1319142083	24	F>Y		No	ClinGen gnomAD
CA4026563 rs776307996	27	Y>C		No	ClinGen ExAC gnomAD
CA365885917 rs1453463322	27	Y>H		No	ClinGen gnomAD
CA365885924 rs1409048319	28	I>V		No	ClinGen TOPMed
CA4026565 rs764783693	29	M>T		No	ClinGen ExAC gnomAD
CA365885951 rs1279614443	32	P>S		No	ClinGen Ensembl
rs749943489 CA4026566	33	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	37	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753176909 CA4026590	38	C>F		No	ClinGen ExAC gnomAD
rs750259708 CA4026591	38	C>W		No	ClinGen ExAC TOPMed gnomAD
rs1405418885 CA365819467	40	N>K		No	ClinGen gnomAD
rs367816376 CA4026592	40	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs367816376 CA365819464	40	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA365819477 rs1303297825	42	R>*		No	ClinGen gnomAD
CA365819478 rs1300899858	42	R>Q		No	ClinGen gnomAD
rs1329334973 CA365819486	43	V>G		No	ClinGen gnomAD
rs1251433786 CA365819487	44	V>I		No	ClinGen TOPMed gnomAD
rs529155878 CA4026594	45	L>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	47	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201862423 CA4026596	47	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758433134 CA4026597	48	P>H		No	ClinGen ExAC gnomAD
CA4026598 rs374848824	51	T>N		No	ClinGen ESP ExAC gnomAD
CA148992762 rs927292104	53	T>A		No	ClinGen TOPMed
CA365819552 rs1433165473	54	S>Y		No	ClinGen gnomAD
CA148992766 rs1052713376	55	P>L		No	ClinGen Ensembl
rs781112000 CA4026601	56	C>W		No	ClinGen ExAC gnomAD
rs1206729331 CA365819569	57	Y>C		No	ClinGen TOPMed
rs1206729331 CA365819568	57	Y>S		No	ClinGen TOPMed
rs138992283 CA4026603	60	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs138992283 CA4026604	60	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1366491144 CA365819605	62	P>R		No	ClinGen gnomAD
CA365819608 rs1295107216	63	N>D		No	ClinGen gnomAD
rs762553859 CA4026605	64	S>N		No	ClinGen ExAC TOPMed gnomAD
CA4026608 rs116955726 RCV000965737	70	T>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA365819673 rs1446447300	72	R>*		No	ClinGen Ensembl
CA4026610 rs192254609	72	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs375234396 CA4026612	75	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA365819695 rs1488416802	76	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA148992799 rs373562749	76	G>V		No	ClinGen ESP
CA365819702 rs1583044721	77	Y>C		No	ClinGen Ensembl
rs1368051106 CA365819700	77	Y>D		No	ClinGen TOPMed
rs1562342070 CA365819708	78	I>V		No	ClinGen Ensembl
CA4026614 rs758486246	80	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA4026615 rs766540867	80	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA148992808 rs1018382501	81	I>K		No	ClinGen TOPMed
rs1386056389 CA365819727	81	I>V		No	ClinGen gnomAD
CA365819750 rs751587735	84	N>I		No	ClinGen ExAC TOPMed gnomAD
CA4026616 rs751587735	84	N>S		No	ClinGen ExAC TOPMed gnomAD
rs375452464 CA365819753	85	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs375452464 CA4026618	85	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1289364755 CA365819757	85	D>V		No	ClinGen gnomAD
CA4026619 rs748002231	88	I>V		No	ClinGen ExAC gnomAD
rs1353834463 CA365819798	91	A>S		No	ClinGen TOPMed
CA4026620 rs755936718	91	A>V		No	ClinGen ExAC gnomAD
rs368529000 CA148992834	93	N>I		No	ClinGen ExAC gnomAD
CA4026621 rs368529000	93	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA365819816 rs1383005996	94	C>R		No	ClinGen gnomAD
rs1229710316 CA365819825	95	I>F		No	ClinGen gnomAD
COSM1208625 rs1310941664 CA365819829 COSM1208626	95	I>M	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs749003590 CA4026622	98	S>L		No	ClinGen ExAC
CA4026623 rs770700301	100	S>F		No	ClinGen ExAC gnomAD
CA4026624 rs773950881	103	N>D		No	ClinGen ExAC gnomAD
CA365819896 rs1227695535	105	E>D		No	ClinGen TOPMed
TCGA novel	105	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365819901 rs1208158143	106	S>N		No	ClinGen gnomAD
rs1295824380 CA365819916	108	T>S		No	ClinGen TOPMed
rs769227436 CA4026626	108	T>S		No	ClinGen ExAC gnomAD
rs762170852 CA4026628	115	A>T		No	ClinGen ExAC gnomAD
CA365819965 rs1423028941	115	A>V		No	ClinGen gnomAD
CA365819966 rs1385096920	116	K>Q		No	ClinGen TOPMed
CA4026631 rs370872563	122	S>L		No	ClinGen ESP ExAC gnomAD
VAR_054128 CA4026632 rs17280293	123	S>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4026633 rs751711883	123	S>N		No	ClinGen ExAC gnomAD
CA365820021 rs377682546	124	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA148992880 rs377682546	124	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1073942 rs377682546 CA4026634 COSM1073944	124	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1378076040 CA365820038	127	M>L		No	ClinGen gnomAD
CA365820043 rs1392295478	127	M>T		No	ClinGen gnomAD
CA365820049 rs1448794714	128	H>Y		No	ClinGen TOPMed
CA4026636 rs370942737	130	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA365820065 rs370942737	130	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs756103287 CA4026637	132	S>A		No	ClinGen ExAC gnomAD
TCGA novel	132	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365820112 rs1200895456	137	I>V		No	ClinGen TOPMed
rs1449438726 CA365820125	138	Q>H		No	ClinGen TOPMed
TCGA novel	138	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4026638 rs777776056	141	G>D		No	ClinGen ExAC gnomAD
rs749058357 CA4026639	143	N>S		No	ClinGen ExAC TOPMed gnomAD
rs988988423 CA148992896	145	S>N		No	ClinGen TOPMed
CA4026640 rs756981737	146	Y>C		No	ClinGen ExAC gnomAD
CA148992900 rs917394949	146	Y>H		No	ClinGen TOPMed gnomAD
rs75679810 RCV000956425 CA4026641	147	I>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4026655 rs764099016	150	A>T		No	ClinGen ExAC gnomAD
rs753707536 CA4026656 COSM244755 COSM244756	150	A>V	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs778631441 CA4026658	151	V>M		No	ClinGen ExAC TOPMed gnomAD
rs374475116 CA4026659	152	S>F		No	ClinGen ESP ExAC gnomAD
CA365820238 rs1467464723	154	R>S		No	ClinGen Ensembl
CA148993912 rs960788726	156	Q>R		No	ClinGen Ensembl
CA4026661 rs779607304	157	K>Q		No	ClinGen ExAC gnomAD
CA4026662 rs746494154	158	V>F		No	ClinGen ExAC gnomAD
TCGA novel	163	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365820310 rs1368389601	165	D>V		No	ClinGen gnomAD
rs778207076 CA4026664	167	Y>C		No	ClinGen ExAC gnomAD
CA4026666 rs771138805	168	Q>R		No	ClinGen ExAC gnomAD
rs1206540927 CA365820334	169	V>L		No	ClinGen TOPMed
CA4026667 rs372275604	171	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA148993924 rs913876991	171	V>I		No	ClinGen Ensembl
rs759740851 CA4026668	173	K>E		No	ClinGen ExAC gnomAD
TCGA novel	174	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	174	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA148993938 rs945366522	174	S>T		No	ClinGen Ensembl
rs1366041784 CA365820389	177	I>M		No	ClinGen gnomAD
rs1249703276 CA365820392	178	P>S		No	ClinGen TOPMed
CA365820415 rs1331753793	181	S>N		No	ClinGen TOPMed
rs1303731363 CA365820423	182	A>V		No	ClinGen TOPMed
rs775759258 CA4026670	184	T>I		No	ClinGen ExAC gnomAD
COSM3381437 CA148993954 COSM3381436 rs551114123	185	L>I	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA4026671 rs551114123	185	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4026673 rs753760891	191	K>R		No	ClinGen ExAC gnomAD
rs750228405 CA4026676	192	V>A		No	ClinGen ExAC TOPMed gnomAD
rs764999436 CA4026675	192	V>F		No	ClinGen ExAC TOPMed gnomAD
rs750228405 CA365820487	192	V>G		No	ClinGen ExAC TOPMed gnomAD
rs764999436 COSM1545222 COSM1545221 CA365820485	192	V>I	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs764999436 CA365820484	192	V>L		No	ClinGen ExAC TOPMed gnomAD
rs758028626 CA4026677	193	G>V		No	ClinGen ExAC gnomAD
rs375861051 RCV000903283 CA4026678	194	H>Q		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs925557550 CA148993997	194	H>R		No	ClinGen Ensembl
rs751093638 CA4026679	195	E>G		No	ClinGen ExAC TOPMed gnomAD
CA365820511 rs1404039353	196	D>V		No	ClinGen gnomAD
rs754447651 CA4026680	197	S>N		No	ClinGen ExAC gnomAD
CA365820548 rs1437324755	201	A>G		No	ClinGen gnomAD
TCGA novel	201	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365820575 CA365820576 rs1364665962	205	S>*		No	ClinGen TOPMed gnomAD
CA4026684 rs779181219	206	N>S		No	ClinGen ExAC gnomAD
CA365820581 rs779181219	206	N>T		No	ClinGen ExAC gnomAD
TCGA novel	207	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4026686 rs772443184	210	T>I		No	ClinGen ExAC gnomAD
CA4026688 rs747090020	211	Q>E		No	ClinGen ExAC gnomAD
rs1377672054 CA365820623	212	L>F		No	ClinGen TOPMed
rs1245704834 CA365820631	214	S>G		No	ClinGen gnomAD
rs367901179 CA4026690	217	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA365820669 rs1187834530	219	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA365820679 rs1238905164	220	S>R		No	ClinGen gnomAD
TCGA novel	222	Y>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4026691 rs78544168	222	Y>*		No	ClinGen ExAC gnomAD
rs765191846 CA4026692	223	F>I		No	ClinGen ExAC gnomAD
TCGA novel	224	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1459300720 CA365820729	228	D>G		No	ClinGen gnomAD
rs1439904625 CA365820735	229	S>A		No	ClinGen TOPMed
rs11155242 VAR_024478 CA4026696	230	K>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4026697 rs754502589	231	C>Y		No	ClinGen ExAC gnomAD
rs536355947 CA4026698	232	L>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	234	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4026699 rs752216230	236	A>T		No	ClinGen ExAC gnomAD
TCGA novel	236	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779424381 CA4026701	237	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1230159272 CA365820796	238	P>H		No	ClinGen gnomAD
rs933058775 CA148994088	240	K>R		No	ClinGen Ensembl
CA4026702 rs375922102	244	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000599462 rs1349317802	247	A>missing		No	ClinVar dbSNP
rs780436526 CA4026704	247	A>S		No	ClinGen ExAC
rs199531526 CA4026705	251	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA148994100 rs775838564	255	L>F		No	ClinGen Ensembl
TCGA novel	257	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365820940 rs1228845883	258	N>S		No	ClinGen TOPMed
CA4026706 rs768995447	259	N>D		No	ClinGen ExAC
rs1463199892 CA365820946	259	N>T		No	ClinGen gnomAD
CA4026707 rs527263071	260	S>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1073954 COSM1073956 CA4026708 rs748239263	260	S>Y	Variant assessed as Somatic; 4.646e-05 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA365820955 rs1253026349	261	L>M		No	ClinGen gnomAD
TCGA novel	263	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1180664658 CA365820975	264	I>V		No	ClinGen gnomAD
rs111589388 CA4026710 RCV000438794	265	G>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4026711 rs762744259	266	V>I		No	ClinGen ExAC gnomAD
CA365820991 rs1400276832	267	N>Y		No	ClinGen gnomAD
rs1402334623 CA365821014	269	K>N		No	ClinGen TOPMed
CA365821018 rs1338047770	270	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA148994110 rs752880235	271	N>D		No	ClinGen Ensembl
rs1467915286 CA365821033	272	Y>C		No	ClinGen TOPMed
rs766107810 CA4026712	273	E>D		No	ClinGen ExAC gnomAD
rs778567767 CA148994111	273	E>Q		No	ClinGen Ensembl
rs1005872025 CA148994114	274	T>I		No	ClinGen Ensembl
TCGA novel	276	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4026714 rs759222863	278	D>N		No	ClinGen ExAC gnomAD
rs763469625 CA148994125	281	I>V		No	ClinGen gnomAD
CA4026715 rs767130740	282	S>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	283	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1471385082 CA365821127	287	G>R		No	ClinGen TOPMed
rs567514249 CA148994141	288	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA4026719 rs750883061	292	L>F		No	ClinGen ExAC gnomAD
rs1245053363 CA365821167	293	L>M		No	ClinGen TOPMed
rs28652795 CA148994153	293	L>W		No	ClinGen Ensembl
CA365821180 rs1484232923	295	S>P		No	ClinGen gnomAD
CA365821189 rs1583049366	296	N>S		No	ClinGen Ensembl
CA4026720 rs374194522	300	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1203533003 CA365821219	300	I>V		No	ClinGen TOPMed gnomAD
CA4026721 rs202077095	301	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202077095 CA365821224	301	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4026723 rs755300707	302	S>C		No	ClinGen ExAC gnomAD
rs747347676 CA4026722	302	S>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	305	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	305	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs995199955 CA148994175	306	D>E		No	ClinGen TOPMed gnomAD
CA148994169 rs201497641	306	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000972150 rs201497641 CA4026724	306	D>Y		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs537536307 CA4026725	307	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA4026726 rs769849401	309	N>S		No	ClinGen ExAC TOPMed gnomAD
rs777589148 CA4026727	311	R>*	Variant assessed as Somatic; 4.641e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1387308864 CA365821297	313	W>G		No	ClinGen gnomAD
CA365821299 rs1324870034	313	W>S		No	ClinGen gnomAD
CA365821322 rs1232999930	316	T>A		No	ClinGen gnomAD
rs371592836 CA4026730	316	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs759274172 CA365821326	317	M>L		No	ClinGen ExAC gnomAD
CA4026732 rs771651812	317	M>T		No	ClinGen ExAC
CA4026731 rs759274172	317	M>V		No	ClinGen ExAC gnomAD
rs775140357 CA4026733	320	K>Q		No	ClinGen ExAC gnomAD
rs760115531 CA4026734	320	K>R		No	ClinGen ExAC gnomAD
rs370177362 CA4026737	324	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	325	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4026740 rs755355849	326	S>T		No	ClinGen ExAC gnomAD
rs1158290423 CA365821411	329	V>G		No	ClinGen TOPMed
CA4026741 rs781277784	329	V>M		No	ClinGen ExAC gnomAD
CA365821431 rs1168004219	332	N>S		No	ClinGen gnomAD
CA4026742 rs145304917	334	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1444136567 CA365821448	335	D>G		No	ClinGen TOPMed
CA148994256 rs373599767	335	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA365821469 rs1320671057	338	N>H		No	ClinGen gnomAD
RCV000912613 rs200437948 CA4026744	338	N>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA365821475 rs1432451403	338	N>K		No	ClinGen gnomAD
CA4026745 rs749360660	342	N>I		No	ClinGen ExAC gnomAD
CA4026746 rs770872495	343	I>M		No	ClinGen ExAC gnomAD
CA365821516 rs1247530796	344	P>S		No	ClinGen TOPMed gnomAD
CA365821514 rs1247530796	344	P>T		No	ClinGen TOPMed gnomAD
CA365821525 rs1264175851	345	N>I		No	ClinGen gnomAD
CA365821537 rs1334815164	347	A>G		No	ClinGen gnomAD
rs1445427454 CA365821533	347	A>S		No	ClinGen TOPMed
CA4026747 rs778758825	350	A>T		No	ClinGen ExAC TOPMed gnomAD
CA365821560 rs1250011003	351	E>A		No	ClinGen gnomAD
rs1463655374 CA365821568	352	S>N		No	ClinGen gnomAD
rs1204392073 CA365821565	352	S>R		No	ClinGen TOPMed
CA4026748 rs745695876	353	N>K		No	ClinGen ExAC gnomAD
CA365821577 rs1359879866	353	N>S		No	ClinGen TOPMed
rs757881946 CA148994280	354	L>V		No	ClinGen TOPMed gnomAD
CA148998591 rs544627788	357	G>V		No	ClinGen Ensembl
CA365821630 rs1191249830	359	Y>*		No	ClinGen gnomAD
CA365821625 rs1489172293	359	Y>H		No	ClinGen gnomAD
CA4026789 rs765342077	360	L>P		No	ClinGen ExAC gnomAD
COSM205457 rs184591267 COSM205456 CA4026790	362	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA365821651 rs1162105647	363	L>P		No	ClinGen TOPMed
CA365821654 rs1409812012	364	P>S		No	ClinGen gnomAD
rs1409812012 CA365821655	364	P>T		No	ClinGen gnomAD
CA365821664 rs1166106431	365	A>V		No	ClinGen TOPMed gnomAD
rs1438779345 CA365821670	366	A>E		No	ClinGen gnomAD
rs1366157715 CA365821691	370	S>G		No	ClinGen gnomAD
rs376452752 CA4026792	370	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA4026793 rs376452752	370	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1271653497 CA365821700	371	C>Y		No	ClinGen gnomAD
CA4026794 rs754687714	372	A>V		No	ClinGen ExAC gnomAD
rs2143390 CA365821714	373	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4026795 rs781011121	373	D>Y		No	ClinGen ExAC gnomAD
CA4026798 rs772921039	375	G>E		No	ClinGen ExAC gnomAD
CA365821732 rs1190096786	377	L>F		No	ClinGen gnomAD
rs766100619 CA148998622	378	C>Y		No	ClinGen Ensembl
CA365821749 rs1423145185	379	Q>R		No	ClinGen gnomAD
CA365821786 rs1583068324	383	N>T		No	ClinGen Ensembl
CA4026817 rs748864894	384	S>F		No	ClinGen ExAC gnomAD
rs1415288283 CA365821793	384	S>P		No	ClinGen gnomAD
CA4026818 rs770300960	385	P>S		No	ClinGen ExAC TOPMed gnomAD
CA365821802 rs1412776804	386	S>G		No	ClinGen gnomAD
rs1292567314 CA365821805	386	S>T		No	ClinGen gnomAD
CA365821814 rs1448735357	387	T>I		No	ClinGen TOPMed
CA148999297 rs764286860	388	T>A		No	ClinGen gnomAD
CA365821815 rs764286860	388	T>P		No	ClinGen gnomAD
CA365821828 rs1200693443	390	P>S		No	ClinGen TOPMed gnomAD
CA365821842 rs1282086803	392	V>A		No	ClinGen gnomAD
CA4026823 rs762107477	394	T>A		No	ClinGen ExAC gnomAD
CA4026824 rs770007435	395	N>S		No	ClinGen ExAC gnomAD
rs182651892 CA4026825	397	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368646880 CA365821909	402	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs907754398 CA148999316	403	D>E		No	ClinGen Ensembl
CA4026827 rs370831198	403	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4026828 rs375001083	405	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs759609818 CA148999346	407	N>D		No	ClinGen ExAC TOPMed gnomAD
rs759609818 CA4026829	407	N>H		No	ClinGen ExAC TOPMed gnomAD
CA4026830 rs767544205	407	N>S		No	ClinGen ExAC gnomAD
rs767544205 CA148999350	407	N>T		No	ClinGen ExAC gnomAD
CA149002315 rs890307626	408	D>G		No	ClinGen TOPMed
CA4026848 rs375300547	411	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4026849 rs760669259	412	Y>C		No	ClinGen ExAC gnomAD
rs1368283370 CA365821987	413	R>G		No	ClinGen TOPMed gnomAD
rs534089695 CA4026850	413	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA4026851 rs753663415	414	I>V		No	ClinGen ExAC gnomAD
rs756919427 CA4026852	415	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA149002339 rs940185359	415	S>P		No	ClinGen TOPMed
CA4026855 rs555414871	416	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA4026856 rs555414871	416	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA4026857 rs748701889	418	I>F		No	ClinGen ExAC TOPMed gnomAD
CA149002361 rs756183754	419	Q>H		No	ClinGen Ensembl
rs1322009005 CA365822026	420	N>H		No	ClinGen gnomAD
TCGA novel	420	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1073963 COSM1073961 CA4026858 rs756610632	423	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM205461 rs1271357229 CA365822051 COSM205460	423	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1271357229 CA365822049	423	R>L		No	ClinGen gnomAD
CA365822050 rs1271357229 COSM3697549 COSM3697548	423	R>P	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA365822082 rs1264202969	428	K>Q		No	ClinGen gnomAD
CA365822084 rs1430045972	428	K>T		No	ClinGen gnomAD
CA4026862 rs201905626 CA4026861	432	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA4026883 rs376357580	438	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4026884 rs775771714	442	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA365822194 rs1417087919	442	Q>R		No	ClinGen gnomAD
CA365822218 rs1355433914	445	N>S		No	ClinGen gnomAD
rs200152845 CA149003532	447	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200152845 CA4026885	447	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA365822248 rs1431202715	450	V>I		No	ClinGen TOPMed
rs774026696 CA4026889	452	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1176169806 CA365822303	456	H>P		No	ClinGen gnomAD
rs866634377 CA149003965	457	L>M		No	ClinGen gnomAD
CA149003967 rs868800646	460	G>*		No	ClinGen Ensembl
rs370645479 CA4026904	460	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1205597755 CA365822334	461	E>G		No	ClinGen TOPMed
rs979834414 CA149003970	462	D>E		No	ClinGen TOPMed
CA365822338 rs1173156447	462	D>N		No	ClinGen gnomAD
CA365822359 rs1250021247	464	I>M		No	ClinGen Ensembl
CA365822362 rs1353310401	465	K>Q		No	ClinGen gnomAD
rs1441507094 CA365822364	465	K>R		No	ClinGen gnomAD
CA149003972 rs866093396	469	S>R		No	ClinGen Ensembl
CA149003971 rs950713147	469	S>T		No	ClinGen Ensembl
CA149003975 rs748766707	471	E>G		No	ClinGen Ensembl
CA4026905 rs781109696	472	D>G		No	ClinGen ExAC gnomAD
TCGA novel	473	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365822428 rs1333979185	474	P>L		No	ClinGen gnomAD
rs1562362514 CA365822432	475	R>T		No	ClinGen Ensembl
CA149009590 rs1046610929	476	L>F		No	ClinGen TOPMed gnomAD
rs906779118 CA149009595	477	V>L		No	ClinGen TOPMed gnomAD
CA365822506 rs1420699658	485	N>D		No	ClinGen gnomAD
rs371422324 CA4026923	485	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1031577459 CA149009602	487	T>I		No	ClinGen Ensembl
CA365822529 rs1319979035	488	N>K		No	ClinGen gnomAD
CA4026925 rs769734114	488	N>S		No	ClinGen ExAC gnomAD
rs777617124 CA4026926	489	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA365822538 rs1399242268	490	T>A		No	ClinGen gnomAD
TCGA novel	490	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365822537 rs1399242268	490	T>P		No	ClinGen gnomAD
rs749109463 CA4026927	491	N>H		No	ClinGen ExAC gnomAD
CA365822555 rs989946 CA365822556	492	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1283004597 CA365822601	496	I>T		No	ClinGen Ensembl
rs1230883078 CA365822607	497	I>L		No	ClinGen gnomAD
CA365822610 rs1230883078	497	I>V		No	ClinGen gnomAD
rs1283093625 CA365822627	498	Q>R		No	ClinGen gnomAD
CA365822666 rs1165166126	501	L>V		No	ClinGen TOPMed gnomAD
CA365822698 rs1281786906	503	K>N		No	ClinGen TOPMed gnomAD
CA365822694 rs1210595968	503	K>R		No	ClinGen TOPMed
CA149009630 rs979463832	504	N>S		No	ClinGen TOPMed
CA4026931 rs372053605	506	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs202032349 CA4026933	509	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA365822786 rs1237575614	510	E>K		No	ClinGen TOPMed
CA149009661 rs369516962	513	R>G		No	ClinGen ESP gnomAD
rs1375659405 CA365822846	514	L>P		No	ClinGen TOPMed
rs911835672 CA149009662	515	H>R		No	ClinGen Ensembl
rs1187232063 CA365822860	516	T>A		No	ClinGen gnomAD
CA365822866 rs1364476061	516	T>I		No	ClinGen gnomAD
rs1166751792 CA365822870	517	V>L		No	ClinGen TOPMed gnomAD
rs765876265 CA365822903	519	V>A		No	ClinGen ExAC TOPMed gnomAD
rs765876265 CA4026934	519	V>G		No	ClinGen ExAC TOPMed gnomAD
CA4026935 rs773806984	521	Q>E		No	ClinGen ExAC gnomAD
rs1233039040 CA365823364	523	G>A		No	ClinGen gnomAD
rs760512207 CA149011794	524	H>N		No	ClinGen TOPMed gnomAD
CA4026956 rs766781770	524	H>R		No	ClinGen ExAC gnomAD
TCGA novel	526	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774788882 CA4026957	527	A>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	527	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365823394 rs1562367148	528	M>I		No	ClinGen Ensembl
CA4026959 rs199876211 CA4026960	528	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs199876211 CA4026958	528	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs763624313 CA149011818	529	E>K		No	ClinGen Ensembl
CA4026961 rs756300996	529	E>V		No	ClinGen ExAC gnomAD
rs1209311504 CA365823413	531	P>S		No	ClinGen TOPMed gnomAD
CA365823419 rs1431206863	532	K>Q		No	ClinGen gnomAD
rs1197928981 CA365823421	532	K>R		No	ClinGen gnomAD
rs372666875 CA4026962	534	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	535	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs937112675 CA149011824	537	P>L		No	ClinGen TOPMed
rs757203827 CA4026964	537	P>S		No	ClinGen ExAC gnomAD
CA365823467 rs1461572120	539	I>L		No	ClinGen gnomAD
rs1461572120 CA365823465	539	I>V		No	ClinGen gnomAD
rs139306565 CA4026966	540	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1228908515 CA365823475	540	Q>P		No	ClinGen TOPMed
CA365823500 rs1386516799	544	Y>H		No	ClinGen gnomAD
rs577606842 CA4026968	545	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA365823520 rs1278191598	547	P>A		No	ClinGen TOPMed gnomAD
CA365823519 rs1278191598	547	P>S		No	ClinGen TOPMed gnomAD
CA365823526 rs1322191772	548	C>R		No	ClinGen TOPMed
CA4026970 rs768417321	549	P>A		No	ClinGen ExAC gnomAD
TCGA novel	551	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1271449369 CA365823555	552	P>S		No	ClinGen gnomAD
rs1488294396 CA365823578	555	S>F		No	ClinGen gnomAD
CA365823580 rs747603208	556	A>P		No	ClinGen ExAC gnomAD
rs747603208 CA4026972	556	A>T		No	ClinGen ExAC gnomAD
rs1262189554 CA365823589	557	S>F		No	ClinGen gnomAD
TCGA novel	557	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4026975 rs759965270	558	R>Q		No	ClinGen ExAC gnomAD
rs373346856 CA4026974	558	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs544737640 CA4026976	559	I>M		No	ClinGen 1000Genomes ExAC gnomAD
CA365823636 rs1365231418	563	N>D		No	ClinGen gnomAD
rs777312705 CA4026993	563	N>S		No	ClinGen ExAC gnomAD
rs565722297 CA149012688	564	A>T		No	ClinGen 1000Genomes TOPMed
CA4026994 rs746431638	565	T>A		No	ClinGen ExAC TOPMed gnomAD
CA365823647 rs746431638	565	T>P		No	ClinGen ExAC TOPMed gnomAD
CA4026997 rs760966409	569	V>A		No	ClinGen ExAC gnomAD
rs775849911 CA4026996	569	V>L		No	ClinGen ExAC TOPMed gnomAD
CA365823700 rs1465724979	572	W>R		No	ClinGen Ensembl
CA4027000 rs191332808	575	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA365823763 rs1444546802	576	D>A		No	ClinGen TOPMed
CA365823805 rs1309396809	578	S>F		No	ClinGen gnomAD
CA365823817 rs1315377116	579	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs765274988 CA365823861	582	K>E		No	ClinGen ExAC TOPMed gnomAD
rs765274988 CA4027001	582	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA4027012 rs369236177	584	A>T		No	ClinGen ExAC gnomAD
rs916030251 CA149013085	586	E>K		No	ClinGen TOPMed gnomAD
rs1304520254 CA365823918	586	E>V		No	ClinGen gnomAD
rs780503322 CA4027014	587	V>I		No	ClinGen ExAC gnomAD
CA4027013 rs780503322	587	V>L		No	ClinGen ExAC gnomAD
rs1236283424 CA365823925	588	A>T		No	ClinGen gnomAD
CA4027017 rs569714425	590	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
rs569714425 CA4027016	590	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
rs373975613 CA4027018	590	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs773177183 CA4027019	591	I>F		No	ClinGen ExAC TOPMed gnomAD
CA149013101 rs909775310	593	N>D		No	ClinGen TOPMed
RCV000998693 rs193295605 CA4027020	595	T>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA365824039 rs1253287453	597	D>H		No	ClinGen gnomAD
RCV000905477 rs146727650 CA4027021	597	D>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA365824130 rs1261939301	602	T>I		No	ClinGen gnomAD
CA365824148 rs1583099020	603	S>L		No	ClinGen Ensembl
CA149013148 rs922433386	604	A>P		No	ClinGen TOPMed gnomAD
rs1172550096 CA365824175	606	I>V		No	ClinGen TOPMed gnomAD
rs1583099070 CA365824191	607	T>A		No	ClinGen Ensembl
rs933854206 CA149013153	609	I>T		No	ClinGen TOPMed
rs1465202971 CA365824249	611	E>Q		No	ClinGen gnomAD
CA365824269 rs1326801231	612	Q>L		No	ClinGen gnomAD
rs1272860439 CA365824310	615	R>K		No	ClinGen gnomAD
CA365824318 rs1366746483	615	R>S		No	ClinGen gnomAD
rs1215072322 CA365824330	616	I>S		No	ClinGen gnomAD
rs755737485 COSM269261 CA4027026 COSM269260	617	V>A	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA365824365 rs1315498506	619	K>E		No	ClinGen TOPMed gnomAD
TCGA novel	619	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4027028 rs753323388	621	E>D		No	ClinGen ExAC TOPMed gnomAD
rs763739669 CA4027027	621	E>V		No	ClinGen ExAC gnomAD
CA4027030 rs756707921	622	N>K		No	ClinGen ExAC gnomAD
rs1361812720 CA365824447	623	I>M		No	ClinGen gnomAD
rs1486432364 CA365824485	625	I>M		No	ClinGen gnomAD
CA4027032 rs755473615	625	I>T		No	ClinGen ExAC gnomAD
rs1188797700 CA365824500	626	T>I		No	ClinGen gnomAD
rs1188797700 CA365824496	626	T>K		No	ClinGen gnomAD
rs1181118989 CA365824526	628	G>V		No	ClinGen TOPMed
CA4027033 rs781466239	629	S>L		No	ClinGen ExAC gnomAD
rs748484928 CA4027034	630	T>A		No	ClinGen ExAC TOPMed gnomAD
CA365824582 CA4027035 rs769911718	632	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs773442205 CA4027036	633	N>I		No	ClinGen ExAC TOPMed gnomAD
CA365824594 rs773442205	633	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	635	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	636	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1010553887 CA149013237	637	N>D		No	ClinGen TOPMed
rs771180710 CA4027038	637	N>I		No	ClinGen ExAC TOPMed gnomAD
CA365824660 rs771180710	637	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1431257905 CA365824673	638	I>V		No	ClinGen gnomAD
TCGA novel	639	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1289250831 CA365824722	641	S>N		No	ClinGen TOPMed gnomAD
CA365824745 rs775155415	644	S>R		No	ClinGen ExAC TOPMed gnomAD
CA4027043 rs760482422	645	D>G		No	ClinGen ExAC gnomAD
rs139180983 CA4027044	646	L>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	651	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4027045 rs753576309	652	E>K		No	ClinGen ExAC gnomAD
RCV000970147 rs184235213 CA4027063	653	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1212218079 CA365824830	655	K>R		No	ClinGen gnomAD
rs1212218079 CA365824829	655	K>T		No	ClinGen gnomAD
CA365824837 rs1375017871	656	T>I		No	ClinGen TOPMed
CA365824872 rs1296821917	661	A>S		No	ClinGen TOPMed
CA365824887 rs1407557752	663	K>T		No	ClinGen TOPMed
CA4027065 rs370043073	664	I>V		No	ClinGen ExAC gnomAD
CA4027066 rs755243417	665	D>H		No	ClinGen ExAC gnomAD
rs1471284879 CA365824901	665	D>V		No	ClinGen gnomAD
rs1179169491 CA365824914	667	N>S		No	ClinGen TOPMed
rs530416885 CA4027067	668	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1378237396 CA365824942	671	H>L		No	ClinGen gnomAD
CA4027068 rs764809899	673	N>T		No	ClinGen ExAC gnomAD
TCGA novel	674	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365824967 rs1174153407	675	T>A		No	ClinGen gnomAD
rs749938643 CA4027069	675	T>R		No	ClinGen ExAC TOPMed gnomAD
rs762409777 CA4027070	676	T>A		No	ClinGen ExAC TOPMed gnomAD
rs762409777 CA365824972	676	T>S		No	ClinGen ExAC TOPMed gnomAD
CA4027072 rs753293070 COSM1073976 COSM1073978	677	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs767931887 CA4027071	677	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1448511882 CA365824996	680	A>S		No	ClinGen gnomAD
rs756543816 CA4027073	680	A>V		No	ClinGen ExAC gnomAD
CA149013830 rs750093131	682	S>G		No	ClinGen Ensembl
CA4027076 CA4027075 rs200367753	682	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs369110407 CA4027078	683	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747035910 CA4027081	686	L>P		No	ClinGen ExAC gnomAD
CA4027082 rs768465531	690	T>S		No	ClinGen ExAC TOPMed gnomAD
CA365825062 rs1196980263	691	N>K		No	ClinGen gnomAD
CA4027083 rs776426124	692	A>V		No	ClinGen ExAC TOPMed gnomAD
CA365825069 rs1438829907	693	I>V		No	ClinGen gnomAD
rs1194059134 CA365825076	694	S>P		No	ClinGen gnomAD
rs377636467 CA4027084	695	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA149013880 rs371186032	697	S>C		No	ClinGen ESP TOPMed
CA149013884 rs145871077	697	S>N		No	ClinGen 1000Genomes gnomAD
CA149013888 rs968010566	697	S>R		No	ClinGen TOPMed
TCGA novel	698	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772801371 CA4027086	698	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1405906109 CA365825119	700	L>R		No	ClinGen TOPMed
CA4027087 rs762572365	703	N>I		No	ClinGen ExAC gnomAD
CA365825138 rs762572365	703	N>S		No	ClinGen ExAC gnomAD
CA365825142 rs1466767157	704	N>D		No	ClinGen gnomAD
rs765949375 CA4027088	704	N>K		No	ClinGen ExAC gnomAD
rs552221555 CA4027089	705	E>K		No	ClinGen 1000Genomes ExAC
rs1030798488 CA149013913	706	S>L		No	ClinGen TOPMed gnomAD
rs956415528 CA149013919	707	Y>H		No	ClinGen TOPMed
CA4027117 rs766447706	710	M>V		No	ClinGen ExAC gnomAD
CA365825217 rs1160891192	712	F>L		No	ClinGen TOPMed
CA4027119 rs182585288	712	F>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000659063 CA4027121 rs186651592	715	G>E		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001199872 rs372427661 CA4027120	715	G>R		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs756037302 CA365825244	716	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1184771620 CA365825242	716	Q>R		No	ClinGen TOPMed
CA4027123 rs777599022	717	V>A		No	ClinGen ExAC gnomAD
rs748976078 CA365825279	722	S>C		No	ClinGen ExAC gnomAD
rs748976078 CA4027124	722	S>Y		No	ClinGen ExAC gnomAD
CA365825283 rs1378795901 COSM371463 COSM371462	723	V>L	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
TCGA novel	724	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365825288 rs1237753523	724	I>V		No	ClinGen gnomAD
rs890232581 CA149014974	729	L>F		No	ClinGen TOPMed gnomAD
CA365825340 rs1288423077	731	E>D		No	ClinGen TOPMed
rs376752245 CA4027125	735	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA149014979 rs1056483693	736	E>*		No	ClinGen Ensembl
CA365825380 rs1482680511	737	D>G		No	ClinGen gnomAD
CA4027127 rs755952122	739	V>I		No	ClinGen ExAC gnomAD
CA10586155 rs1554251481	741	V>D		No	ClinGen Ensembl
rs1239668119 CA365825407	742	R>G		No	ClinGen gnomAD
rs771752914 CA4027128	745	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1174650266 CA365825486	752	T>I		No	ClinGen gnomAD
rs765782642 CA4027131	753	G>E		No	ClinGen ExAC gnomAD
CA149015017 rs997510180	754	L>V		No	ClinGen TOPMed
rs1032597624 TCGA novel CA149015024	755	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed gnomAD
rs757051854 CA4027144	757	D>G		No	ClinGen ExAC TOPMed gnomAD
rs757051854 CA365825530	757	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1291665252 CA365825547	760	P>S		No	ClinGen gnomAD
CA4027146 rs745573811	762	R>I		No	ClinGen ExAC TOPMed gnomAD
rs1583107892 CA365825576	764	T>A		No	ClinGen Ensembl
rs1315592682 CA365825586	765	L>F		No	ClinGen gnomAD
TCGA novel	765	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365825582 rs1175152439	765	L>V		No	ClinGen TOPMed
CA4027147 rs746820401	766	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1290197016 CA365825606	768	Y>F		No	ClinGen gnomAD
CA365825613 rs793888525	769	V>G		No	ClinGen Ensembl
CA365825617 rs1219858836	770	M>K		No	ClinGen gnomAD
rs1246600532 CA365825628 COSM1440878 COSM1440879	771	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA365825640 rs1195865878	773	S>N		No	ClinGen gnomAD
CA365825649 rs1261116197	774	I>T		No	ClinGen gnomAD
CA365825674 rs1477557930	778	T>A		No	ClinGen gnomAD
rs770457333 CA4027150	778	T>S		No	ClinGen ExAC gnomAD
CA365825678 rs1416253318	779	I>V		No	ClinGen gnomAD
TCGA novel	783	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1583108051 CA365825718	784	D>G		No	ClinGen Ensembl
rs1162436416 CA365825727	785	P>H		No	ClinGen gnomAD
TCGA novel	785	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365825744 rs1364823143	788	I>V		No	ClinGen gnomAD
rs1300033522 CA365825762	790	I>M		No	ClinGen gnomAD
CA4027151 rs773539808	790	I>V		No	ClinGen ExAC gnomAD
rs763492059 CA4027152	791	K>R		No	ClinGen ExAC gnomAD
CA149016240 rs973703489	793	T>A		No	ClinGen Ensembl
rs866102909 CA149016243	793	T>K		No	ClinGen Ensembl
CA365825794 rs1306456334	795	T>I		No	ClinGen TOPMed gnomAD
rs1306456334 CA365825792	795	T>N		No	ClinGen TOPMed gnomAD
CA149016256 rs1006468613	796	Q>R		No	ClinGen TOPMed gnomAD
CA149016961 rs1016889712	797	E>D		No	ClinGen TOPMed
rs1445342072 CA365825831	799	H>R		No	ClinGen gnomAD
CA149016963 rs561370149	800	H>R		No	ClinGen 1000Genomes
CA365825844 rs1583110671	801	P>S		No	ClinGen Ensembl
CA365825897 rs1378077219	808	L>P		No	ClinGen gnomAD
CA365825900 rs1257223763	809	N>D		No	ClinGen TOPMed
CA4027163 rs750179017	810	K>Q		No	ClinGen ExAC gnomAD
rs1342934500 CA365825945	813	S>G		No	ClinGen gnomAD
CA365825956 rs1449730489	814	F>S		No	ClinGen gnomAD
rs990274098 CA149017573	815	G>E		No	ClinGen Ensembl
rs1223008188 CA365825965	816	G>R		No	ClinGen TOPMed gnomAD
rs1258909944 CA365825992	819	T>M		No	ClinGen gnomAD
rs1443422483 CA365826022	824	A>T		No	ClinGen TOPMed
CA4027182 rs765159105	825	H>R		No	ClinGen ExAC gnomAD
rs1199459200 CA365826038	826	R>T		No	ClinGen TOPMed gnomAD
rs1248403307 CA365826053	828	S>*		No	ClinGen TOPMed gnomAD
CA365826054 rs1248403307	828	S>L		No	ClinGen TOPMed gnomAD
CA365826065 rs1283974813	830	A>P		No	ClinGen TOPMed
CA4027183 rs750276998	831	S>N		No	ClinGen ExAC gnomAD
rs138824051 CA4027185	833	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs138824051 CA4027184	833	T>K		No	ClinGen 1000Genomes ExAC gnomAD
CA365826171 rs370822329	838	N>K		No	ClinGen gnomAD
CA365826198 rs1210998591	840	F>Y		No	ClinGen TOPMed
CA4027187 rs754669806	845	V>A		No	ClinGen ExAC TOPMed gnomAD
CA4027186 rs751295041	845	V>I		No	ClinGen ExAC TOPMed gnomAD
rs747636352 CA4027189	847	M>L		No	ClinGen ExAC gnomAD
rs1486333543 CA365826405	848	D>N		No	ClinGen gnomAD
rs1424044476 CA365826420	850	P>A		No	ClinGen gnomAD
rs1424044476 CA365826421	850	P>S		No	ClinGen gnomAD
rs1189264006 CA365826425	851	R>G		No	ClinGen gnomAD
CA365826443 rs752178726	853	A>D		No	ClinGen ExAC TOPMed gnomAD
CA365826440 rs1582655662	853	A>T		No	ClinGen Ensembl
rs752178726 CA4027207	853	A>V		No	ClinGen ExAC TOPMed gnomAD
rs201172357 CA4027208	854	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	854	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1164105083 CA365826454	855	Q>L		No	ClinGen TOPMed
CA365826455 rs1164105083	855	Q>R		No	ClinGen TOPMed
CA149019641 rs1010105993	857	D>V		No	ClinGen Ensembl
rs1363035100 CA365826476	858	A>G		No	ClinGen gnomAD
rs1393359499 CA365826494	861	T>A		No	ClinGen TOPMed gnomAD
TCGA novel	861	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4027209 rs374199043	861	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA149019651 rs902620936	862	K>E		No	ClinGen TOPMed gnomAD
CA149019652 rs1032359171	869	Y>C		No	ClinGen gnomAD
CA365826549 rs1032359171	869	Y>S		No	ClinGen gnomAD
CA4027213 rs372702669	870	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4027212 rs780411310	870	I>V		No	ClinGen ExAC TOPMed gnomAD
rs748299525 CA4027216	876	A>T		No	ClinGen ExAC gnomAD
rs1219777561 CA365826595	876	A>V		No	ClinGen TOPMed
CA365826598 rs1320167877	877	I>L		No	ClinGen TOPMed
CA365826597 rs1320167877	877	I>V		No	ClinGen TOPMed
TCGA novel	879	S>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769954057 CA4027217	881	A>T		No	ClinGen ExAC TOPMed gnomAD
CA365826629 rs1368611271	882	T>A		No	ClinGen TOPMed
rs1240945456 CA365826633	882	T>I		No	ClinGen gnomAD
CA4027218 rs773418459	883	L>F		No	ClinGen ExAC gnomAD
CA4027220 rs202116919	886	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA149019682 rs938403456	887	V>A		No	ClinGen TOPMed
CA365826697 rs1344389991	890	E>D		No	ClinGen gnomAD
TCGA novel	891	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4027238 rs749312742	893	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1204304460 CA365826716	893	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs771023445 CA4027239	894	R>S		No	ClinGen ExAC gnomAD
rs1393439022 CA365826730	895	D>E		No	ClinGen TOPMed
rs1489763113 CA365826743	897	P>L		No	ClinGen gnomAD
CA365826764 rs550663402	900	I>M		No	ClinGen 1000Genomes ExAC gnomAD
rs984318446 CA149020021	900	I>V		No	ClinGen TOPMed
TCGA novel	901	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775136868 CA4027243	902	M>I		No	ClinGen ExAC gnomAD
rs771971212 CA4027242	902	M>T		No	ClinGen ExAC gnomAD
rs760388656 CA4027244	903	N>H		No	ClinGen ExAC gnomAD
CA365826832 rs753380361	911	L>P		No	ClinGen ExAC gnomAD
rs753380361 CA4027246	911	L>R		No	ClinGen ExAC gnomAD
CA365826829 rs1453525736	911	L>V		No	ClinGen TOPMed
CA365826837 rs1350309349	912	N>S		No	ClinGen gnomAD
rs1457435945 CA365826841	913	L>I		No	ClinGen TOPMed gnomAD
rs1457435945 CA365826842	913	L>V		No	ClinGen TOPMed gnomAD
CA365826850 rs1582657380	914	L>P		No	ClinGen Ensembl
rs761268701 CA4027247	914	L>V		No	ClinGen ExAC gnomAD
CA365826871 rs1364381811	918	D>N		No	ClinGen gnomAD
rs764707015 CA4027248	919	G>C		No	ClinGen ExAC TOPMed gnomAD
rs1562379093 CA365826883	919	G>V		No	ClinGen Ensembl
CA4027249 rs752150834	920	W>G		No	ClinGen ExAC gnomAD
rs755432845 CA4027250	922	T>I		No	ClinGen ExAC gnomAD
CA365826901 rs1359436499	922	T>P		No	ClinGen gnomAD
rs1015633298 CA149020095	925	N>S		No	ClinGen gnomAD
rs781662099 CA4027251	925	N>Y		No	ClinGen ExAC gnomAD
CA4027252 RCV000960147 rs186655757	929	L>F		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA365826957 rs1349631812	931	I>L		No	ClinGen TOPMed
TCGA novel	932	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756405743 CA4027253	933	V>I		No	ClinGen ExAC gnomAD
rs756405743 CA365826970	933	V>L		No	ClinGen ExAC gnomAD
rs373686565 CA4027254	934	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs373686565 CA365826979	934	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	936	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1414208701 CA365826990	936	L>R		No	ClinGen gnomAD
CA149020104 rs933450271	937	L>F		No	ClinGen TOPMed gnomAD
rs1334940145 CA365827019	940	F>L		No	ClinGen TOPMed
CA365827025 rs1416193689	941	L>P		No	ClinGen TOPMed
CA4027255 rs749400993	944	T>A	Variant assessed as Somatic; 0.0001856 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs867552430 CA149020114	945	F>I		No	ClinGen Ensembl
CA149020118 rs535577075	947	W>*		No	ClinGen Ensembl
CA4027257 rs778826685	947	W>R		No	ClinGen ExAC gnomAD
rs745876758 CA4027258	952	A>T		No	ClinGen ExAC gnomAD
TCGA novel	953	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	954	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	954	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA149020127 rs746751442	955	M>I		No	ClinGen Ensembl
rs551719878 CA4027259	955	M>V		No	ClinGen 1000Genomes ExAC gnomAD
COSM1073982 COSM1073984 rs1303109223 CA365827122	956	Y>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	957	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4027261 rs369946839	958	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA365827152 rs761427700	961	K>R		No	ClinGen ExAC gnomAD
CA4027264 rs761427700	961	K>T		No	ClinGen ExAC gnomAD
rs889317406 CA149020149	965	T>A		No	ClinGen TOPMed gnomAD
rs764791367 CA4027265	965	T>I		No	ClinGen ExAC gnomAD
CA4027266 rs772581036	967	I>T		No	ClinGen ExAC gnomAD
CA4027267 rs760098162	968	R>C		No	ClinGen ExAC gnomAD
rs760098162 CA365827197	968	R>G		No	ClinGen ExAC gnomAD
CA4027268 rs767841904	968	R>H		No	ClinGen ExAC TOPMed gnomAD
rs753135960 CA365827200	969	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4027269 rs753135960	969	R>G		No	ClinGen ExAC TOPMed gnomAD
CA4027270 rs373361637	969	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1160299259 CA365827207	970	Y>C		No	ClinGen gnomAD
CA4027272 rs754152632	971	I>V		No	ClinGen ExAC TOPMed gnomAD
rs375811355 CA4027273	974	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA365827235 rs1407889065	974	F>S		No	ClinGen gnomAD
CA365827256 rs1378195394	977	I>T		No	ClinGen gnomAD
rs1222364508 CA365827274	980	G>S		No	ClinGen TOPMed
rs1489614516 CA365827305	983	A>T		No	ClinGen gnomAD
CA365827310 rs1283798977	983	A>V		No	ClinGen TOPMed
rs770386496 CA4027304	984	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1319963533 CA365827343	989	V>F		No	ClinGen TOPMed
rs200450467 CA4027306	991	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs762220868 CA4027309	996	N>D		No	ClinGen ExAC gnomAD
rs765615712 CA4027310	996	N>S		No	ClinGen ExAC TOPMed gnomAD
CA365827396 rs1298903151	997	E>*		No	ClinGen gnomAD
CA4027312 rs763235586	997	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1298903151 CA365827394	997	E>K		No	ClinGen gnomAD
CA365827410 rs1337573549	999	Y>S		No	ClinGen gnomAD
rs1180910727 CA365827425	1001	K>R		No	ClinGen TOPMed
CA365827449 rs1325584367	1004	Y>C		No	ClinGen gnomAD
rs1316989665 CA365827457	1005	G>A		No	ClinGen gnomAD
CA4027314 rs553890241	1007	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4027315 rs754912058	1009	G>R		No	ClinGen ExAC TOPMed gnomAD
rs754912058 CA149021007	1009	G>S		No	ClinGen ExAC TOPMed gnomAD
CA365827500 rs1582660200	1011	E>D		No	ClinGen Ensembl
rs1260638094 CA365827502	1012	F>I		No	ClinGen gnomAD
rs13216256 CA149022858	1013	C>W		No	ClinGen Ensembl
CA365827529 rs1174600832	1014	W>G		No	ClinGen TOPMed gnomAD
rs570636337 CA4027337	1014	W>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1174600832 CA365827530	1014	W>R		No	ClinGen TOPMed gnomAD
rs752670221 CA4027338	1016	Q>H		No	ClinGen ExAC gnomAD
TCGA novel	1017	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365827560 rs1330722548	1018	P>T		No	ClinGen TOPMed
TCGA novel	1019	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4027339 rs756074536	1019	V>I		No	ClinGen ExAC gnomAD
CA4027341 rs753603038	1020	I>M		No	ClinGen ExAC TOPMed gnomAD
rs371643501 CA4027340	1020	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA365827575 rs1380605822	1021	F>I		No	ClinGen TOPMed
CA4027343 rs756890815	1022	Y>C		No	ClinGen ExAC gnomAD
rs756890815 CA365827586	1022	Y>F		No	ClinGen ExAC gnomAD
CA4027342 rs756890815	1022	Y>S		No	ClinGen ExAC gnomAD
rs1345671863 CA365827593	1023	V>A		No	ClinGen TOPMed gnomAD
rs1451014592 CA365827597	1024	T>S		No	ClinGen TOPMed
rs779127355 CA4027344	1025	C>S		No	ClinGen ExAC gnomAD
CA365827611 rs1562382394	1026	A>D		No	ClinGen Ensembl
rs758025977 CA4027345	1027	G>R		No	ClinGen ExAC gnomAD
CA365827617 rs1205663918	1027	G>V		No	ClinGen gnomAD
CA365827624 rs1321250958	1028	Y>C		No	ClinGen TOPMed
CA149022927 rs1055364258	1030	G>V		No	ClinGen TOPMed
rs966238318 CA149022932	1032	M>I		No	ClinGen Ensembl
CA365827649 rs1226725753	1032	M>K		No	ClinGen gnomAD
CA365827655 rs1298424629	1033	F>L		No	ClinGen gnomAD
rs1195794370 CA365827657	1033	F>Y		No	ClinGen gnomAD
TCGA novel	1035	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1197479022 CA365827673	1035	L>P		No	ClinGen gnomAD
TCGA novel	1035	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365827671 rs1481488063	1035	L>V		No	ClinGen gnomAD
rs770281091 CA4027349	1036	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA149022947 rs200483338	1037	I>V		No	ClinGen Ensembl
CA4027351 rs749621051	1039	M>T		No	ClinGen ExAC TOPMed gnomAD
CA4027350 rs188834899	1039	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1460403619 CA365827707	1040	F>L		No	ClinGen TOPMed gnomAD
CA4027352 rs771162689	1040	F>Y		No	ClinGen ExAC gnomAD
rs994535418 CA149022958	1041	I>T		No	ClinGen TOPMed gnomAD
rs1459880373 CA365827716	1042	V>L		No	ClinGen TOPMed
TCGA novel	1044	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1232814758 CA365827730	1044	M>T		No	ClinGen gnomAD
CA4027353 rs774602364	1045	V>M		No	ClinGen ExAC gnomAD
CA365827746 rs1582664662	1046	Q>H		No	ClinGen Ensembl
TCGA novel	1046	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365827753 rs1483805631	1047	I>M		No	ClinGen gnomAD
CA4027354 rs759721796	1047	I>V		No	ClinGen ExAC gnomAD
rs1242022456 CA365827776	1051	N>D		No	ClinGen TOPMed
rs922679826 CA149022976	1053	K>E		No	ClinGen TOPMed gnomAD
rs767649565 CA4027355	1053	K>N		No	ClinGen ExAC TOPMed
rs760542668 CA4027357	1056	N>K		No	ClinGen ExAC TOPMed gnomAD
CA4027356 rs775625580	1056	N>S		No	ClinGen ExAC TOPMed gnomAD
CA4027359 rs199568634	1057	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1440880 RCV000762437 COSM1440881 VAR_076965 rs536714306 CA4027360	1057	R>Q	large_intestine found in patients with aggressive periodontitis; impairs cAMP production; abrogates osteoblastic differentiation [Cosmic, UniProt]	No	ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs199568634 CA4027358	1057	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs555114028 CA4027361	1058	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4027364 rs576641911	1060	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1390316108 CA365827831	1060	R>I		No	ClinGen gnomAD
CA365827834 rs1288503357	1061	E>K		No	ClinGen TOPMed
CA4027365 CA4027366 rs557716413	1063	V>L		No	ClinGen ExAC TOPMed gnomAD
CA4027367 rs557716413	1063	V>M		No	ClinGen ExAC TOPMed gnomAD
CA365827866 rs1165186381	1065	R>S		No	ClinGen TOPMed
rs771324253 CA4027369	1066	N>K		No	ClinGen ExAC gnomAD
CA4027368 rs749733597	1066	N>S		No	ClinGen ExAC gnomAD
rs905366167 CA149023134	1067	L>M		No	ClinGen gnomAD
rs905366167 CA365827873	1067	L>V		No	ClinGen gnomAD
CA149023140 COSM266610 rs977070350 COSM266609	1068	R>C	large_intestine Variant assessed as Somatic; 4.64e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1425955493 CA365827881 COSM205468 COSM205469	1068	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA4027370 rs774692267	1070	V>G		No	ClinGen ExAC gnomAD
CA365827890 rs1188707850	1070	V>M		No	ClinGen TOPMed
CA4027371 rs746146861	1074	T>N		No	ClinGen ExAC gnomAD
rs1429772250 CA365827923	1075	F>V		No	ClinGen TOPMed
rs772223725 CA4027372	1076	L>V		No	ClinGen ExAC gnomAD
rs1360240630 CA365827943	1078	G>D		No	ClinGen gnomAD
rs775464498 CA4027373	1079	M>I		No	ClinGen ExAC
CA365827959 rs1258979156	1080	T>I		No	ClinGen TOPMed
TCGA novel	1083	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1028890755 CA149023167	1085	F>S		No	ClinGen TOPMed
CA365828014 rs1488577022	1088	W>S		No	ClinGen TOPMed
rs1316297085 CA365828022	1089	G>E		No	ClinGen gnomAD
rs1562382762 CA365828030	1090	P>L		No	ClinGen Ensembl
rs374836373 CA4027375	1093	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4027376 rs776672043	1094	P>A		No	ClinGen ExAC gnomAD
rs1394225464 CA365828059	1095	F>V		No	ClinGen gnomAD
rs1218189916 CA365828068	1096	M>T		No	ClinGen gnomAD
CA149023190 rs892207709	1096	M>V		No	ClinGen Ensembl
TCGA novel	1098	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4027378 rs765184344	1103	N>S		No	ClinGen ExAC gnomAD
TCGA novel	1104	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773168657 CA4027398	1109	F>C		No	ClinGen ExAC TOPMed
rs758910549 CA149003874	1110	I>M		No	ClinGen TOPMed gnomAD
CA4027400 rs369521129	1112	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs369521129 CA4027399	1112	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4027401 TCGA novel rs751261668	1113	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs759105248 CA365822671	1114	H>D		No	ClinGen ExAC gnomAD
rs759105248 CA4027402	1114	H>N		No	ClinGen ExAC gnomAD
rs757765789 CA4027405	1117	M>R		No	ClinGen ExAC gnomAD
CA4027404 rs752144888	1117	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1277824188 CA365822746	1119	E>*		No	ClinGen gnomAD
CA365822752 rs1350025024	1119	E>G		No	ClinGen gnomAD
rs953160908 CA149003905	1121	V>I		No	ClinGen TOPMed
CA365822812 rs1285447010	1123	K>N		No	ClinGen gnomAD
CA4027406 rs779344190	1123	K>R		No	ClinGen ExAC gnomAD
CA4027408 rs758839563	1126	R>Q		No	ClinGen ExAC gnomAD
CA4027407 rs750908671	1126	R>W		No	ClinGen ExAC gnomAD
TCGA novel	1127	Q>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4027410 rs747316312	1127	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA149003922 rs747316312	1127	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA365822856 rs747316312	1127	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1262686 CA365822863	1127	Q>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4027412 rs1262686	1127	Q>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA365822873 rs1582694544	1128	H>D		No	ClinGen Ensembl
CA4027413 rs541981396	1128	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1035960358 CA149003943	1131	C>Y		No	ClinGen Ensembl
rs769871493 CA4027414	1132	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1244320772 CA365822928	1132	G>S		No	ClinGen TOPMed
CA4027415 rs773328318	1133	R>G		No	ClinGen ExAC gnomAD
TCGA novel	1133	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4027417 rs375435005	1135	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4027416 rs762950556	1135	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA365822974 rs1278112193	1137	A>T		No	ClinGen TOPMed
CA4027419 rs751539485	1140	S>*		No	ClinGen ExAC gnomAD
CA365823017 rs1487144869	1141	D>G		No	ClinGen TOPMed
rs995615546 CA149004256	1142	W>*		No	ClinGen TOPMed gnomAD
rs1208813594 CA365823026	1142	W>C		No	ClinGen gnomAD
rs995615546 CA365823024	1142	W>L		No	ClinGen TOPMed gnomAD
rs770715586 CA4027439	1148	N>S		No	ClinGen ExAC gnomAD
rs866419808 CA149004257	1149	I>F		No	ClinGen Ensembl
CA4027440 rs369753921	1150	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1582695805 CA365823088	1151	K>N		No	ClinGen Ensembl
rs1264235433 CA365823100	1153	S>N		No	ClinGen TOPMed
CA4027442 rs373115050	1154	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1156	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4027443 rs775164521	1160	S>P		No	ClinGen ExAC gnomAD
CA4027444 rs760318247	1161	L>F		No	ClinGen ExAC gnomAD
rs1325308741 CA365823161	1162	S>F		No	ClinGen gnomAD
rs763654162 CA4027446	1163	S>L		No	ClinGen ExAC gnomAD
rs776064384 CA365823179	1165	S>F		No	ClinGen ExAC gnomAD
CA4027447 rs776064384	1165	S>Y		No	ClinGen ExAC gnomAD
CA4027450 rs751981267	1167	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1368848974 CA365823189	1167	G>C		No	ClinGen TOPMed gnomAD
rs1368848974 CA365823187	1167	G>S		No	ClinGen TOPMed gnomAD
CA4027451 rs755343005	1169	N>I		No	ClinGen ExAC gnomAD
rs1050418260 CA149004288	1170	S>*		No	ClinGen Ensembl
CA4027452 rs369549773	1171	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs756389285 CA4027454	1172	Y>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1173	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778010981 CA4027455	1174	T>I		No	ClinGen ExAC gnomAD
TCGA novel	1177	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1177	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA149004324 rs1019110280	1177	S>P		No	ClinGen TOPMed gnomAD
CA365823258 rs1267885534	1178	K>N		No	ClinGen TOPMed gnomAD
rs548532834 CA365823260	1179	S>A		No	ClinGen TOPMed
rs548532834 CA149004327	1179	S>P		No	ClinGen TOPMed
rs757248124 CA4027457	1180	S>N		No	ClinGen ExAC
CA365823288 rs1476625756	1183	T>S		No	ClinGen TOPMed
TCGA novel	1187	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1185900307 CA365823319	1187	R>S		No	ClinGen TOPMed gnomAD
rs897989114 CA149004332	1188	N>D		No	ClinGen Ensembl
rs1254688623 CA365823325	1188	N>S		No	ClinGen TOPMed gnomAD
CA149004344 rs993290712	1189	S>R		No	ClinGen Ensembl
rs200899578 CA4027459	1192	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1375759577 CA365823726	1194	V>A		No	ClinGen gnomAD
rs375463968 CA4027476	1194	V>I		No	ClinGen ESP ExAC gnomAD
CA149005481 rs779220737	1196	Y>C		No	ClinGen Ensembl
rs199726782 CA4027477	1196	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs748297713 CA4027478	1197	E>A		No	ClinGen ExAC TOPMed gnomAD
CA365823757 rs1203161730	1197	E>D		No	ClinGen TOPMed
CA365823753 rs748297713	1197	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1407456579 CA365823845	1204	G>E		No	ClinGen gnomAD
rs1407456579 CA365823848	1204	G>V		No	ClinGen gnomAD
TCGA novel	1205	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4027479 rs574157602	1206	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA149005491 rs963739661	1207	R>G		No	ClinGen Ensembl
CA365823955 rs1367265511	1208	Q>E		No	ClinGen TOPMed gnomAD
CA365823959 rs1290599448	1208	Q>R		No	ClinGen gnomAD
rs936617218 CA149006468	1209	C>F		No	ClinGen Ensembl
rs771635843 CA149006479	1211	H>R		No	ClinGen Ensembl
rs1295675840 CA365824004	1211	H>Y		No	ClinGen TOPMed
CA149006499 rs1053617641 COSM740785	1213	Q>*	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs758365152 CA4027495	1214	V>A		No	ClinGen ExAC gnomAD
rs750452978 CA4027494	1214	V>I		No	ClinGen ExAC gnomAD
rs1228365849 CA365824058	1215	L>F		No	ClinGen gnomAD
TCGA novel	1215	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4027496 rs188113052 RCV000891483	1216	V>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1051993848 CA149006508	1217	K>T		No	ClinGen TOPMed
rs754811944 CA4027498	1218	T>A		No	ClinGen ExAC gnomAD
CA365824118 rs1219575956	1219	G>C		No	ClinGen gnomAD
CA365824119 rs1162906544	1219	G>D		No	ClinGen TOPMed
CA365824133 rs1265089080	1220	P>T		No	ClinGen gnomAD
rs1449811878 CA365824179	1222	C>C		No	ClinGen TOPMed

1 associated diseases with Q86SQ4

[MIM: 616503]: Lethal congenital contracture syndrome 9 (LCCS9)

A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. {ECO:0000269|PubMed:26004201}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. {ECO:0000269|PubMed:26004201}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for Q86SQ4

Type	Name	Position	InterPro Accession
conserved_site	Aminoacyl-tRNA synthetase, class I, conserved site	46 - 56	IPR001412

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Multi-pass membrane protein	Detected on the cell surface of activated but not resting umbilical vein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
cell surface	The external part of the cell wall and/or plasma membrane.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

5 GO annotations of molecular function

Name	Definition
collagen binding	Binding to collagen, a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%).
endopeptidase activity	Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain.
extracellular matrix binding	Binding to a component of the extracellular matrix.
G protein-coupled receptor activity	Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex.
laminin binding	Binding to a laminin, a major glycoprotein constituent of the basement membrane of cells.

9 GO annotations of biological process

Name	Definition
adenylate cyclase-activating G protein-coupled receptor signaling pathway	A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation of adenylyl cyclase activity and a subsequent increase in the intracellular concentration of cyclic AMP (cAMP).
cAMP-mediated signaling	Any intracellular signal transduction in which the signal is passed on within the cell via cyclic AMP (cAMP). Includes production of cAMP, and downstream effectors that further transmit the signal within the cell.
cell surface receptor signaling pathway	The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription.
G protein-coupled receptor signaling pathway	The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane.
heart trabecula formation	The process of creating a trabecula in the heart. A trabecula is a tissue element in the form of a small beam, strut or rod.
myelination	The process in which myelin sheaths are formed and maintained around neurons. Oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier.
myelination in peripheral nervous system	The process in which neuronal axons and dendrites become coated with a segmented lipid-rich sheath (myelin) to enable faster and more energetically efficient conduction of electrical impulses. The sheath is formed by the cell membranes of Schwann cells in the peripheral nervous system. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier.
nervous system development	The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
Schwann cell differentiation	The process in which a relatively unspecialized cell acquires the specialized features of a Schwann cell. Schwann cells are found in the peripheral nervous system, where they insulate neurons and axons, and regulate the environment in which neurons function.

8 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O97148	mth	G-protein coupled receptor Mth	Drosophila melanogaster (Fruit fly)	PR
Q9VSE7	mthl7	Probable G-protein coupled receptor Mth-like 7	Drosophila melanogaster (Fruit fly)	PR
P83119	mthl12	Probable G-protein coupled receptor Mth-like 12	Drosophila melanogaster (Fruit fly)	PR
Q8IZF3	ADGRF4	Adhesion G protein-coupled receptor F4	Homo sapiens (Human)	PR
Q9UHX3	ADGRE2	Adhesion G protein-coupled receptor E2	Homo sapiens (Human)	PR
O60242	ADGRB3	Adhesion G protein-coupled receptor B3	Homo sapiens (Human)	PR
Q80TR1	Adgrl1	Adhesion G protein-coupled receptor L1	Mus musculus (Mouse)	PR
Q2Q426	ADGRE2	Adhesion G protein-coupled receptor E2	Macaca mulatta (Rhesus macaque)	PR

10	20	30	40	50	60
MMFRSDRMWS	CHWKWKPSPL	LFLFALYIMC	VPHSVWGCAN	CRVVLSNPSG	TFTSPCYPND
70	80	90	100	110	120
YPNSQACMWT	LRAPTGYIIQ	ITFNDFDIEE	APNCIYDSLS	LDNGESQTKF	CGATAKGLSF
130	140	150	160	170	180
NSSANEMHVS	FSSDFSIQKK	GFNASYIRVA	VSLRNQKVIL	PQTSDAYQVS	VAKSISIPEL
190	200	210	220	230	240
SAFTLCFEAT	KVGHEDSDWT	AFSYSNASFT	QLLSFGKAKS	GYFLSISDSK	CLLNNALPVK
250	260	270	280	290	300
EKEDIFAESF	EQLCLVWNNS	LGSIGVNFKR	NYETVPCDST	ISKVIPGNGK	LLLGSNQNEI
310	320	330	340	350	360
VSLKGDIYNF	RLWNFTMNAK	ILSNLSCNVK	GNVVDWQNDF	WNIPNLALKA	ESNLSCGSYL
370	380	390	400	410	420
IPLPAAELAS	CADLGTLCQA	TVNSPSTTPP	TVTTNMPVTN	RIDKQRNDGI	IYRISVVIQN
430	440	450	460	470	480
ILRHPEVKVQ	SKVAEWLNST	FQNWNYTVYV	VNISFHLSAG	EDKIKVKRSL	EDEPRLVLWA
490	500	510	520	530	540
LLVYNATNNT	NLEGKIIQQK	LLKNNESLDE	GLRLHTVNVR	QLGHCLAMEE	PKGYYWPSIQ
550	560	570	580	590	600
PSEYVLPCPD	KPGFSASRIC	FYNATNPLVT	YWGPVDISNC	LKEANEVANQ	ILNLTADGQN
610	620	630	640	650	660
LTSANITNIV	EQVKRIVNKE	ENIDITLGST	LMNIFSNILS	SSDSDLLESS	SEALKTIDEL
670	680	690	700	710	720
AFKIDLNSTS	HVNITTRNLA	LSVSSLLPGT	NAISNFSIGL	PSNNESYFQM	DFESGQVDPL
730	740	750	760	770	780
ASVILPPNLL	ENLSPEDSVL	VRRAQFTFFN	KTGLFQDVGP	QRKTLVSYVM	ACSIGNITIQ
790	800	810	820	830	840
NLKDPVQIKI	KHTRTQEVHH	PICAFWDLNK	NKSFGGWNTS	GCVAHRDSDA	SETVCLCNHF
850	860	870	880	890	900
THFGVLMDLP	RSASQLDARN	TKVLTFISYI	GCGISAIFSA	ATLLTYVAFE	KLRRDYPSKI
910	920	930	940	950	960
LMNLSTALLF	LNLLFLLDGW	ITSFNVDGLC	IAVAVLLHFF	LLATFTWMGL	EAIHMYIALV
970	980	990	1000	1010	1020
KVFNTYIRRY	ILKFCIIGWG	LPALVVSVVL	ASRNNNEVYG	KESYGKEKGD	EFCWIQDPVI
1030	1040	1050	1060	1070	1080
FYVTCAGYFG	VMFFLNIAMF	IVVMVQICGR	NGKRSNRTLR	EEVLRNLRSV	VSLTFLLGMT
1090	1100	1110	1120	1130	1140
WGFAFFAWGP	LNIPFMYLFS	IFNSLQGLFI	FIFHCAMKEN	VQKQWRQHLC	CGRFRLADNS
1150	1160	1170	1180	1190	1200
DWSKTATNII	KKSSDNLGKS	LSSSSIGSNS	TYLTSKSKSS	STTYFKRNSH	TDNVSYEHSF
1210	1220
NKSGSLRQCF	HGQVLVKTGP	C