AiPD: Autoinhibited Protein Database

O60391

Gene name	GRIN3B
Protein name	Glutamate receptor ionotropic, NMDA 3B
Names	GluN3B, N-methyl-D-aspartate receptor subtype 3B, NMDAR3B, NR3B
Species	Homo sapiens (Human)
KEGG Pathway	hsa:116444
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

856-947 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

856-947 (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 O60391

Entry ID	Method	Resolution	Chain	Position	Source
AF-O60391-F1	Predicted				AlphaFoldDB

1256 variants for O60391

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001262994 CA9030554 rs765385702	604	T>M	Variant assessed as Somatic; 0.0 impact. Neurodevelopmental disorder [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001262649 rs747179788 CA303980742	705	Y>C	Neurodevelopmental disorder [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA9030068 rs572944531	2	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402952517 rs1306295647	2	E>A		No	ClinGen TOPMed
CA303978977 rs953457496	3	F>C		No	ClinGen TOPMed gnomAD
rs1027718987 CA303978974	3	F>V		No	ClinGen TOPMed gnomAD
rs1205578923 CA402952568	5	R>W		No	ClinGen TOPMed gnomAD
rs1272523563 CA402952590	6	A>E		No	ClinGen gnomAD
CA402952581 rs1231331570	6	A>T		No	ClinGen gnomAD
CA9030070 rs764232329	8	W>*		No	ClinGen ExAC gnomAD
CA402952613 rs1599453666	8	W>G		No	ClinGen Ensembl
rs1555736304 CA402952642	10	G>V		No	ClinGen Ensembl
rs558871680 CA303978990	11	L>R		No	ClinGen 1000Genomes TOPMed
rs757164134 CA9030073	12	A>E		No	ClinGen ExAC TOPMed gnomAD
rs544534250 CA303978996	14	A>E		No	ClinGen 1000Genomes TOPMed gnomAD
rs544534250 CA303978998	14	A>G		No	ClinGen 1000Genomes TOPMed gnomAD
rs577245079 CA303978994	14	A>S		No	ClinGen 1000Genomes
CA402952685 rs544534250	14	A>V		No	ClinGen 1000Genomes TOPMed gnomAD
CA402952731 rs1280878747	17	P>L		No	ClinGen TOPMed
rs925903057 CA303979003	19	S>A		No	ClinGen Ensembl
rs1271137463 CA402952781	20	A>E		No	ClinGen TOPMed
CA402952778 rs1339374584	20	A>T		No	ClinGen TOPMed
CA402952788 rs1164802309	21	G>R		No	ClinGen gnomAD
CA402952802 rs1599453738	22	G>D		No	ClinGen Ensembl
rs1310721133 CA402952798	22	G>S		No	ClinGen TOPMed
rs1419254903 CA402952855	26	P>L		No	ClinGen TOPMed gnomAD
rs914963662 CA303979008	27	C>S		No	ClinGen TOPMed
CA402952904 rs1177674118	30	L>V		No	ClinGen TOPMed
rs1478692501 CA402952923	31	A>E		No	ClinGen TOPMed
rs947814832 CA303979010	31	A>P		No	ClinGen TOPMed
rs947814832 CA402952920	31	A>T		No	ClinGen TOPMed
rs542744852 CA9030076	32	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402952964 rs1599453756	34	G>R		No	ClinGen Ensembl
rs1217769910 CA402952993	35	G>R		No	ClinGen Ensembl
CA402953026 rs1406151368	37	V>M		No	ClinGen gnomAD
CA402953068 rs1465148405	39	L>P		No	ClinGen gnomAD
rs928117882 CA303979014	41	A>S		No	ClinGen TOPMed
rs928117882 CA303979017	41	A>T		No	ClinGen TOPMed
CA402953147 rs1300978198	42	L>P		No	ClinGen gnomAD
rs1375483270 CA402953153	43	L>V		No	ClinGen gnomAD
CA303979025 rs1037006531	44	P>S		No	ClinGen TOPMed gnomAD
CA303979029 rs994812003	46	A>T		No	ClinGen TOPMed
CA402953295 rs1331993554	49	A>V		No	ClinGen TOPMed
rs1467156302 CA402953301	50	R>C		No	ClinGen TOPMed
CA402953298 rs1467156302	50	R>G		No	ClinGen TOPMed
CA402953305 rs1415369032	50	R>H		No	ClinGen TOPMed
rs1225580508 CA402953313	51	A>T		No	ClinGen gnomAD
CA303979036 rs1008054623	52	R>G		No	ClinGen TOPMed
CA303979044 rs998053758	55	A>V		No	ClinGen TOPMed gnomAD
CA402953470 rs1467568222	58	A>V		No	ClinGen TOPMed
CA9030078 rs748958926	59	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1342119232 CA402953486	59	R>Q		No	ClinGen gnomAD
CA402953508 rs1253560253	60	A>S		No	ClinGen gnomAD
CA402953515 rs1412745334	60	A>V		No	ClinGen TOPMed gnomAD
CA402953582 rs1314459124	65	R>G		No	ClinGen TOPMed
rs956634776 CA303979050	67	P>A		No	ClinGen TOPMed gnomAD
TCGA novel	67	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402953620 rs1349370453	67	P>R		No	ClinGen TOPMed gnomAD
CA402953667 rs1250055034	69	N>K		No	ClinGen TOPMed gnomAD
CA402953673 rs1458236738	70	L>V		No	ClinGen TOPMed
CA402953715 rs1481655327	71	S>I		No	ClinGen gnomAD
CA402953726 rs1201102695	71	S>R		No	ClinGen TOPMed gnomAD
CA402953771 rs1429599450	73	E>D		No	ClinGen TOPMed gnomAD
rs1418765545 CA402953795	74	L>Q		No	ClinGen TOPMed
CA303979052 rs989071947	75	V>A		No	ClinGen TOPMed gnomAD
CA402953826 rs1484875372	76	V>A		No	ClinGen TOPMed gnomAD
CA9030080 rs144440136	77	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9030081 rs747492431	77	A>V		No	ClinGen ExAC gnomAD
rs1180329473 CA402953902	79	P>L		No	ClinGen TOPMed gnomAD
CA303979057 rs980919866	79	P>T		No	ClinGen TOPMed gnomAD
CA402953925 rs1307417585	80	P>H		No	ClinGen gnomAD
CA402953949 rs1406597301	81	A>T		No	ClinGen TOPMed gnomAD
CA402954002 rs1284131626	83	D>V		No	ClinGen gnomAD
CA402954073 rs1217502389	85	A>G		No	ClinGen gnomAD
CA402954057 rs1367213590	85	A>T		No	ClinGen TOPMed gnomAD
rs939495536 CA303979061	87	L>M		No	ClinGen TOPMed gnomAD
CA402954103 rs939495536	87	L>V		No	ClinGen TOPMed gnomAD
CA303979064 rs1036547423	89	R>C		No	ClinGen TOPMed gnomAD
rs1036547423 CA402954148	89	R>G		No	ClinGen TOPMed gnomAD
rs1160467529 CA402954157	89	R>H		No	ClinGen TOPMed
rs1490933136 CA402954197	90	G>V		No	ClinGen gnomAD
CA402954218 rs1246878086	91	L>P		No	ClinGen gnomAD
CA9030083 rs139242998	94	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs577371675 CA303979069	96	V>G		No	ClinGen Ensembl
CA402954331 rs1421023282	97	P>T		No	ClinGen gnomAD
CA402954342 rs1485303144	98	P>S		No	ClinGen TOPMed
rs1218108007 CA402954365	100	V>M		No	ClinGen TOPMed
rs1388292866 CA402954423	105	A>T		No	ClinGen gnomAD
TCGA novel	107	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1313945035 CA402954795	110	R>G		No	ClinGen TOPMed
CA402954796 rs1313945035	110	R>W		No	ClinGen TOPMed
TCGA novel	112	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402954815 rs1341304749	112	E>K		No	ClinGen TOPMed
rs1334636660 CA402954829	113	L>M		No	ClinGen TOPMed gnomAD
rs1290911539 CA402954844	114	L>P		No	ClinGen TOPMed gnomAD
rs1287708843 CA402954852	115	Q>*		No	ClinGen TOPMed gnomAD
TCGA novel	115	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402954860 rs1362722135	116	L>M		No	ClinGen gnomAD
rs1173291574 CA402954863	116	L>Q		No	ClinGen TOPMed
CA9030088 rs764099116	117	H>L		No	ClinGen ExAC TOPMed
rs12986002 CA9030087	117	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402954898 rs1362248341	119	L>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA402954904 rs1247100082	119	L>P		No	ClinGen gnomAD
CA402954915 rs1218913213	120	A>E		No	ClinGen gnomAD
CA402954908 rs1320362884	120	A>T		No	ClinGen gnomAD
CA402954919 rs1218913213	120	A>V		No	ClinGen gnomAD
CA402954927 rs1187425794	121	A>E		No	ClinGen gnomAD
CA402954921 rs1464931753	121	A>T		No	ClinGen gnomAD
CA402954931 rs1187425794	121	A>V		No	ClinGen gnomAD
CA402954935 rs1446387926	122	A>T		No	ClinGen gnomAD
CA402954943 rs1163560414	122	A>V		No	ClinGen gnomAD
CA402954950 rs1403443796	123	T>A		No	ClinGen TOPMed gnomAD
rs1161509301 CA402954954	123	T>S		No	ClinGen gnomAD
rs1385528512 CA402954971	124	E>D		No	ClinGen gnomAD
CA402954963 rs1318635619	124	E>G		No	ClinGen gnomAD
CA9030090 rs761687154	124	E>K		No	ClinGen ExAC gnomAD
rs1484515796 CA402954982	125	T>I		No	ClinGen TOPMed
rs1484515796 CA402954980	125	T>N		No	ClinGen TOPMed
CA402954977 rs1453982183	125	T>S		No	ClinGen gnomAD
rs1377404781 CA402954997	126	P>L		No	ClinGen TOPMed gnomAD
rs1377404781 CA402954995	126	P>R		No	ClinGen TOPMed gnomAD
rs1285868871 CA402955002	127	V>L		No	ClinGen gnomAD
CA402955013 rs1207491111	128	L>I		No	ClinGen gnomAD
CA402955019 rs1265704818	128	L>P		No	ClinGen gnomAD
CA402955025 rs1188134746	129	S>G		No	ClinGen gnomAD
CA402955029 rs1236874726	129	S>N		No	ClinGen gnomAD
CA402955032 rs756032796	129	S>R		No	ClinGen ExAC TOPMed gnomAD
CA402955039 rs1178748001	130	L>M		No	ClinGen gnomAD
CA402955066 rs1157300381	132	R>L		No	ClinGen TOPMed gnomAD
CA303979084 rs1030800158	132	R>W		No	ClinGen TOPMed
CA303979087 rs886877480	134	E>G		No	ClinGen TOPMed
CA402955103 rs1394907131	135	A>G		No	ClinGen TOPMed
rs1466644090 CA402955119	137	A>S		No	ClinGen TOPMed
CA9030095 rs766207454	137	A>V		No	ClinGen ExAC TOPMed gnomAD
CA303979092 rs1016565759	139	L>P		No	ClinGen Ensembl
rs1334049042 CA402955199	142	P>L		No	ClinGen TOPMed gnomAD
CA402955194 rs1334049042	142	P>R		No	ClinGen TOPMed gnomAD
TCGA novel	142	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1170343894 CA402956821	144	P>A		No	ClinGen TOPMed
CA402956830 rs1309242222	144	P>Q		No	ClinGen gnomAD
rs1408425319 CA402956910	146	H>L		No	ClinGen TOPMed gnomAD
CA402956915 rs768887801	147	L>M		No	ClinGen ExAC TOPMed gnomAD
rs768887801 CA9030106	147	L>V		No	ClinGen ExAC TOPMed gnomAD
CA402956945 rs867202767 CA303979524	148	Q>H		No	ClinGen gnomAD
rs1233264030 CA402956959	149	L>M		No	ClinGen gnomAD
CA402956964 rs1273736106	149	L>Q		No	ClinGen TOPMed gnomAD
CA402956969 rs1273736106	149	L>R		No	ClinGen TOPMed gnomAD
rs999321071 CA303979525	150	H>P		No	ClinGen Ensembl
rs1195471545 CA402957026	151	W>*		No	ClinGen TOPMed
rs1216242580 CA402957039	151	W>*		No	ClinGen gnomAD
rs762034807 CA9030108	152	A>S		No	ClinGen ExAC gnomAD
rs533032722 CA9030111	153	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766108668 CA9030113	154	P>H		No	ClinGen ExAC gnomAD
rs766108668 CA9030114	154	P>L		No	ClinGen ExAC gnomAD
CA9030112 rs113181909	154	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759216342 CA9030115	155	L>M		No	ClinGen ExAC
CA402957163 rs1476467297	156	E>G		No	ClinGen gnomAD
CA402957150 rs1375998377	156	E>K		No	ClinGen TOPMed gnomAD
CA402957185 rs2240154	157	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9030117 VAR_019676 rs2240154	157	T>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA402957188 rs2240154	157	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA303979526 rs748195921	158	L>P		No	ClinGen Ensembl
rs202186487 CA9030119	159	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9030122 rs138359117	164	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs908076154 CA303979527	168	A>V		No	ClinGen TOPMed gnomAD
CA9030127 rs779253822	169	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1225831254 CA402957505	169	H>Y		No	ClinGen gnomAD
rs1209457193 CA402957538	170	A>G		No	ClinGen gnomAD
rs772290501 CA9030128	170	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1209457193 CA402957542	170	A>V		No	ClinGen gnomAD
CA402957569 rs903119058	171	W>*		No	ClinGen TOPMed gnomAD
rs903119058 CA303979529	171	W>C		No	ClinGen TOPMed gnomAD
rs1448767001 CA402957561	171	W>S		No	ClinGen gnomAD
CA9030129 rs773375530	172	E>Q		No	ClinGen ExAC gnomAD
rs35592366 CA9030131	173	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1369396143 CA402957660	174	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9030134 rs759432466	175	G>D		No	ClinGen ExAC gnomAD
rs373257218 CA303979530	175	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9030133 rs373257218	175	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1050412160 CA303979531	177	A>S		No	ClinGen gnomAD
CA402957834 rs1314842130	179	C>Y		No	ClinGen gnomAD
VAR_079909 CA9030138 rs201484790	180	R>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9030139 rs751030090	180	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs540094501 CA9030140	181	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9030141 rs780664333	182	Q>E		No	ClinGen ExAC gnomAD
rs754291109 CA9030142	184	P>A		No	ClinGen ExAC gnomAD
rs575985258 CA9030144	185	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9030146 rs772376172	186	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1157843410 CA402958056	189	A>D		No	ClinGen TOPMed
CA402958092 rs1159534421	191	W>R		No	ClinGen TOPMed gnomAD
CA402958152 rs1387263365	193	S>C		No	ClinGen gnomAD
CA9030149 rs770901800	194	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9030148 rs199717057 VAR_079910	194	R>W		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1310313769 CA402958218	196	G>D		No	ClinGen TOPMed gnomAD
rs1395175750 CA402958214	196	G>S		No	ClinGen gnomAD
CA9030151 rs149087926	197	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs369365676 COSM4131125 CA9030150	197	R>W	thyroid [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA402958239 rs1327126425	198	P>S		No	ClinGen gnomAD
rs1257051991 CA402958266	199	P>L		No	ClinGen gnomAD
rs1483216964 CA402958329	201	L>P		No	ClinGen TOPMed gnomAD
rs775217866 CA9030153	203	L>R		No	ClinGen ExAC gnomAD
CA9030154 rs762625764	204	D>A		No	ClinGen ExAC gnomAD
CA402958413 rs1410824974	204	D>E		No	ClinGen gnomAD
CA9030159 rs766935811	207	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9030158 rs375724549	207	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs370031535 CA9030161	208	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA9030162 rs765725337	208	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs370031535 CA9030160	208	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA9030163 rs753149069	210	T>M		No	ClinGen ExAC TOPMed gnomAD
CA402958586 rs1220962392	212	D>G		No	ClinGen gnomAD
CA402958613 rs1302079558	213	A>V		No	ClinGen gnomAD
CA303979533 rs1030440495	214	G>A		No	ClinGen Ensembl
CA9030166 rs747229196	215	L>P		No	ClinGen ExAC gnomAD
CA402958663 rs186778870	216	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9030169 rs199819972	216	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9030168 rs186778870	216	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775375702 CA9030171	218	R>C		No	ClinGen ExAC TOPMed gnomAD
rs749130329 CA9030172	218	R>H		No	ClinGen ExAC gnomAD
rs775375702 CA303979534	218	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1174448915 CA402958769	220	A>D		No	ClinGen TOPMed
rs774061149 CA9030174	221	P>L		No	ClinGen ExAC TOPMed gnomAD
CA402958802 rs1568389706	222	M>V		No	ClinGen Ensembl
CA9030177 rs368329479	223	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs368703396 CA303979535	224	A>G		No	ClinGen ExAC TOPMed gnomAD
CA9030179 rs368703396	224	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1366972751 CA402958907	226	V>L		No	ClinGen gnomAD
CA9030183 rs764485174	227	G>E		No	ClinGen ExAC TOPMed gnomAD
rs758898930 CA9030182 CA402958928	227	G>R		No	ClinGen ExAC TOPMed gnomAD
rs758898930 CA402958924	227	G>W		No	ClinGen ExAC TOPMed gnomAD
CA402958950 rs1272925343	228	G>D		No	ClinGen TOPMed gnomAD
CA402958941 rs1228035514	228	G>S		No	ClinGen gnomAD
rs1182407511	228	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402959022 rs1323936348	231	P>A		No	ClinGen gnomAD
CA9030184 rs751818106	231	P>L		No	ClinGen ExAC TOPMed gnomAD
CA402959025 rs1323936348	231	P>S		No	ClinGen gnomAD
rs1487850093 CA402959073	233	P>L		No	ClinGen gnomAD
rs374598541 CA402959081	234	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9030186 rs374598541	234	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs745975247 CA9030187	234	A>V		No	ClinGen ExAC TOPMed gnomAD
CA303979537 rs887502129	235	A>T		No	ClinGen TOPMed
rs780028640 CA9030189	235	A>V		No	ClinGen ExAC gnomAD
rs1211821985 CA402959116	237	L>I		No	ClinGen TOPMed
CA402959123 rs1456418199	238	L>H		No	ClinGen gnomAD
CA402959126 rs1366103266	239	G>S		No	ClinGen TOPMed gnomAD
rs778624033 CA9030192	240	C>R		No	ClinGen ExAC TOPMed gnomAD
rs772894807 CA9030195	243	A>D		No	ClinGen ExAC gnomAD
CA9030194 rs771659930	243	A>T		No	ClinGen ExAC gnomAD
CA9030196 rs760156588	244	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9030197 rs367698479	244	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
COSM4140198 rs776143887 CA9030198	246	R>C	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA9030199 rs55646937	246	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402959170 rs55646937	246	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs55646937 CA9030200	246	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_079911 rs370645758 CA9030202	247	R>Q		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
VAR_079912 rs143106549 CA9030201	247	R>W		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA402959174 rs1182260952	248	V>M		No	ClinGen gnomAD
rs767682153 CA9030203	250	E>Q		No	ClinGen ExAC gnomAD
rs1474344546 CA402959195	251	A>V		No	ClinGen gnomAD
rs935264057 CA303979540	252	V>A		No	ClinGen Ensembl
rs750645579 CA9030204	252	V>I		No	ClinGen ExAC TOPMed gnomAD
rs756258043 CA9030205	254	P>S		No	ClinGen ExAC gnomAD
rs753790329 CA402959213	255	G>R		No	ClinGen ExAC TOPMed gnomAD
CA9030207 rs753790329	255	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1377522698 CA402959230	257	H>Q		No	ClinGen TOPMed gnomAD
CA402959235 rs1231062783	258	W>*		No	ClinGen gnomAD
rs1599456082 CA402959238	258	W>*		No	ClinGen Ensembl
CA402959254 rs1329204211	261	G>R		No	ClinGen TOPMed gnomAD
CA9030208 rs754863215	265	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1322031427 CA402959287	267	K>*		No	ClinGen TOPMed
CA303979542 rs935861107	267	K>N		No	ClinGen TOPMed gnomAD
rs1568389839 CA402959302	269	L>P		No	ClinGen Ensembl
CA303979543 rs917800956	270	P>T		No	ClinGen Ensembl
rs947877973 CA303979544	271	T>I		No	ClinGen TOPMed gnomAD
rs947877973 CA402959314	271	T>S		No	ClinGen TOPMed gnomAD
CA9030210 rs747939936	272	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9030211 rs771883513	272	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA402959327 rs1334152519	274	L>Q		No	ClinGen TOPMed gnomAD
CA402959331 rs1437808655	275	P>S		No	ClinGen TOPMed
rs1309414183 CA402959341	276	P>S		No	ClinGen gnomAD
CA402959355 rs1350758650	277	G>E		No	ClinGen gnomAD
TCGA novel	277	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746604370 CA9030213	280	A>P		No	ClinGen ExAC TOPMed gnomAD
rs370044469 CA9030214	280	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1406842783 CA402959388	282	G>R		No	ClinGen TOPMed
rs1207075456 CA402959395	283	E>*		No	ClinGen TOPMed gnomAD
CA402959396 rs1266158783	283	E>A		No	ClinGen TOPMed
rs1207075456 CA402959393	283	E>K		No	ClinGen TOPMed gnomAD
rs1248222064 CA402959402	284	V>E		No	ClinGen TOPMed
rs906909579 CA402959401 CA303979547	284	V>L		No	ClinGen TOPMed gnomAD
rs906909579 CA303979546	284	V>M		No	ClinGen TOPMed gnomAD
VAR_079913	285	A>G	found in a patient with autism spectrum disorder; unknown pathological significance [UniProt]	No	UniProt
CA9030217 rs769328388	285	A>V		No	ClinGen ExAC TOPMed gnomAD
CA303979548 rs547921611	286	R>*		No	ClinGen 1000Genomes gnomAD
CA9030218 rs374404176	286	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9030219 rs762142662	287	P>S		No	ClinGen ExAC TOPMed gnomAD
CA402959413 rs762142662	287	P>T		No	ClinGen ExAC TOPMed gnomAD
CA402959422 rs1393829583	288	P>L		No	ClinGen TOPMed gnomAD
CA9030220 rs540083868	288	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	289	L>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA303979549 rs1030541753	289	L>R		No	ClinGen TOPMed gnomAD
rs1169625262 CA402959423	289	L>V		No	ClinGen gnomAD
rs1287453593 CA402959440	291	A>V		No	ClinGen TOPMed
CA402959441 rs1326495200	292	A>T		No	ClinGen TOPMed gnomAD
rs766471444 CA9030223	292	A>V		No	ClinGen ExAC gnomAD
CA402959457 rs1436603386	294	H>R		No	ClinGen TOPMed gnomAD
rs1368706264 CA402959481	297	V>G		No	ClinGen gnomAD
CA303979550 rs889331617	298	Q>R		No	ClinGen TOPMed gnomAD
rs1599456238 CA402959501	301	A>P		No	ClinGen Ensembl
CA9030226 rs778769818	302	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs61744435 CA9030225	302	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs866839280 CA303979552	303	A>T		No	ClinGen Ensembl
CA402959513 rs1292349056	303	A>V		No	ClinGen gnomAD
rs1248412250 CA402959517	304	L>P		No	ClinGen TOPMed
rs1198284575 CA402959522	305	G>D		No	ClinGen gnomAD
CA402959528 rs1251602206	306	S>N		No	ClinGen gnomAD
rs576700288 CA9030228	307	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1032129780 CA303979553	308	A>G		No	ClinGen Ensembl
rs756928981 CA9030231	314	R>*		No	ClinGen ExAC TOPMed gnomAD
CA402959579 rs756928981	314	R>G		No	ClinGen ExAC TOPMed gnomAD
CA402959580 rs1197938032	314	R>Q		No	ClinGen TOPMed gnomAD
rs1405373141 CA402959583	315	A>T		No	ClinGen gnomAD
CA402959589 rs1366375915	316	L>I		No	ClinGen TOPMed
rs917854803 CA402959609	319	A>D		No	ClinGen TOPMed gnomAD
rs61744452 CA9030232	319	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA303979554 rs917854803	319	A>V		No	ClinGen TOPMed gnomAD
CA402959617 rs1298292181	320	P>L		No	ClinGen TOPMed gnomAD
CA402959614 rs1298292181	320	P>Q		No	ClinGen TOPMed gnomAD
CA402959626 rs1191329406	321	V>F		No	ClinGen gnomAD
CA402959672 rs969272202	323	C>*		No	ClinGen TOPMed
CA402959663 rs1224994211	323	C>R		No	ClinGen gnomAD
CA303979556 rs573588554	324	G>R		No	ClinGen 1000Genomes TOPMed gnomAD
rs573588554 CA402959674	324	G>W		No	ClinGen 1000Genomes TOPMed gnomAD
rs1390541383 CA402959687	326	L>V		No	ClinGen TOPMed
TCGA novel	327	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs909035620 CA303979557	327	Q>P		No	ClinGen TOPMed gnomAD
rs948615995 CA303979559	328	P>L		No	ClinGen TOPMed gnomAD
CA303979560 rs762499974	329	A>S		No	ClinGen TOPMed gnomAD
CA9030236 rs748625717 CA303979561	330	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
CA9030237 rs200777913 VAR_079914	332	E>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1599456373 CA402959773	333	S>F		No	ClinGen Ensembl
CA303979563 rs1051342020	334	P>L		No	ClinGen TOPMed gnomAD
rs1384202207 CA402959807	335	G>E		No	ClinGen gnomAD
COSM1611452 VAR_079915 CA303979567 rs1043645806	336	R>C	liver found in a patient with schizophrenia; unknown pathological significance [Cosmic, UniProt]	No	ClinGen cosmic curated UniProt TOPMed dbSNP gnomAD
rs904681158 CA303979568	336	R>H		No	ClinGen TOPMed gnomAD
rs1178087803	340	R>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA303979570 rs577413695	340	R>Q		No	ClinGen 1000Genomes TOPMed gnomAD
CA303979569 rs889997671	340	R>W		No	ClinGen TOPMed gnomAD
rs1378168693 CA402961371	341	F>V		No	ClinGen gnomAD
CA9030259 rs369346897	342	L>V		No	ClinGen ExAC gnomAD
CA9030260 rs771277255	343	A>S		No	ClinGen ExAC gnomAD
rs776839228 CA9030261	344	N>T		No	ClinGen ExAC TOPMed gnomAD
CA9030262 rs374855408	345	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA402961447 rs1430641842	345	T>P		No	ClinGen gnomAD
CA402961517 rs1388615835	348	Q>*		No	ClinGen gnomAD
rs372649188 CA9030264	350	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs144334537 CA9030265 VAR_079916	350	R>H		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA9030266 rs1389754514	351	T>M		No	ClinGen TOPMed
rs1599457022 CA402961555	351	T>P		No	ClinGen Ensembl
rs751530516 CA9030269	353	P>L		No	ClinGen ExAC gnomAD
CA402961612 rs767354179	354	V>L		No	ClinGen ExAC TOPMed gnomAD
CA9030271 rs767354179	354	V>M		No	ClinGen ExAC TOPMed gnomAD
CA402961637 rs1211238317	355	W>*		No	ClinGen gnomAD
rs545162012 CA303979702	355	W>C		No	ClinGen 1000Genomes gnomAD
rs757226574 CA9030272	356	V>*		No	ClinGen ExAC gnomAD
rs750117365 CA9030273	356	V>A		No	ClinGen ExAC
CA9030274 rs755747069	357	T>A		No	ClinGen ExAC
CA9030278 rs75047944	358	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779463732 CA9030277	358	G>S		No	ClinGen ExAC gnomAD
rs778317218 CA9030280	359	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1169949575 CA402961759	360	S>F		No	ClinGen gnomAD
rs1459446379 CA402961769	361	Q>*		No	ClinGen gnomAD
rs1294207686 CA402961781	361	Q>H		No	ClinGen TOPMed gnomAD
TCGA novel	362	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs928219719 CA303979703	363	H>D		No	ClinGen TOPMed
CA9030283 rs771295633	363	H>Q		No	ClinGen ExAC
CA9030284 rs781486264	365	S>P		No	ClinGen ExAC gnomAD
CA9030287 rs770093108	366	R>P		No	ClinGen ExAC TOPMed gnomAD
CA9030286 rs770093108	366	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9030285 rs549590961	366	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402961862 rs1350792424	367	H>Y		No	ClinGen TOPMed
rs763153384 CA9030288	369	K>N		No	ClinGen ExAC gnomAD
CA402961889 rs1214385863	369	K>Q		No	ClinGen gnomAD
CA9030289 rs768852310	370	V>L		No	ClinGen ExAC gnomAD
rs761787718 CA402961927	371	W>*		No	ClinGen ExAC TOPMed gnomAD
rs761787718 CA9030291	371	W>C		No	ClinGen ExAC TOPMed gnomAD
rs767446155 CA9030293	372	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1467671655 CA402961934	372	S>R		No	ClinGen gnomAD
rs1231064109 CA402961941	372	S>T		No	ClinGen TOPMed
rs1249843318 CA402961962	374	R>C		No	ClinGen TOPMed gnomAD
CA402961963 rs760358935	374	R>H		No	ClinGen ExAC TOPMed gnomAD
CA9030294 rs760358935	374	R>L		No	ClinGen ExAC TOPMed gnomAD
rs753425600 CA402961968	375	R>G		No	ClinGen ExAC TOPMed gnomAD
rs375661484 CA9030297	375	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9030296 rs753425600	375	R>W		No	ClinGen ExAC TOPMed gnomAD
rs778333616 CA9030298	377	P>T		No	ClinGen ExAC gnomAD
rs74667913 CA303979704	378	R>Q		No	ClinGen TOPMed gnomAD
CA9030299 rs371184224	378	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA402962023 rs373298742	380	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9030301 rs373298742	380	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1430388903 CA402962028	380	A>V		No	ClinGen gnomAD
COSM3821815 rs935843296 VAR_079917 CA303979705	381	P>L	Variant assessed as Somatic; 0.0 impact. breast found in a patient with schizophrenia; unknown pathological significance [NCI-TCGA, Cosmic, UniProt]	No	ClinGen cosmic curated UniProt NCI-TCGA TOPMed dbSNP gnomAD
CA9030302 rs746291615	381	P>S		No	ClinGen ExAC gnomAD
rs75794325 CA9030304	382	A>T		No	ClinGen ExAC TOPMed gnomAD
rs749404495 CA9030305	382	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA402962058 rs1269869033	383	W>*		No	ClinGen gnomAD
rs528711346 CA9030307	385	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9030309 rs772178419	386	V>G		No	ClinGen ExAC TOPMed gnomAD
CA303979706 rs546896691	386	V>M		No	ClinGen 1000Genomes
CA402962106 rs1417439117	388	S>G		No	ClinGen gnomAD
rs1599457189 CA402962114	389	W>R		No	ClinGen Ensembl
rs760582633 CA9030311	390	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9030310 rs370995692	390	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA9030312 rs766018848	391	D>A		No	ClinGen ExAC TOPMed gnomAD
CA303979707 rs766018848	391	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1412871049 CA402962125	391	D>N		No	ClinGen gnomAD
CA9030315 rs764757965	392	G>D		No	ClinGen ExAC gnomAD
rs375645814 CA9030314	392	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA402962146 rs1328265098	393	Q>*		No	ClinGen TOPMed
rs1484906621 CA402962157 CA402962159	393	Q>H		No	ClinGen gnomAD
TCGA novel	395	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs12978900 CA9030317	396	L>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1412314998 CA402962203	397	E>G		No	ClinGen gnomAD
rs768071466 CA9030318	398	P>L		No	ClinGen ExAC gnomAD
rs768071466 CA402962218	398	P>Q		No	ClinGen ExAC gnomAD
CA402962236 rs1223110899	400	G>S		No	ClinGen gnomAD
TCGA novel	402	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749551084 CA9030322	403	A>G		No	ClinGen ExAC TOPMed gnomAD
CA402962270 rs1211342994	403	A>T		No	ClinGen gnomAD
CA9030325 rs748290098	404	R>Q		No	ClinGen ExAC gnomAD
rs4807399 CA9030324 VAR_019677	404	R>W		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9030326 rs772270429	405	P>H		No	ClinGen ExAC TOPMed gnomAD
CA303979708 rs772270429	405	P>L		No	ClinGen ExAC TOPMed gnomAD
CA402962293 rs1469737522	405	P>S		No	ClinGen TOPMed gnomAD
rs1469737522 CA402962290	405	P>T		No	ClinGen TOPMed gnomAD
CA9030329 rs149631723	406	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs149631723 CA9030330	406	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9030328 rs746860925	406	P>T		No	ClinGen ExAC
CA9030334 rs573078457	407	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA9030333 rs573078457	407	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs764918112 CA402962308	407	P>S		No	ClinGen ExAC gnomAD
CA9030332 rs764918112	407	P>T		No	ClinGen ExAC gnomAD
rs144402697 CA9030337	408	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs144402697 CA9030336	408	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402962316 rs1335806422	408	P>T		No	ClinGen gnomAD
rs754197277 CA9030339	409	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA402962362 rs1235005921	410	G>S		No	ClinGen gnomAD
CA9030340 rs755376191	410	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1345522135 CA402962393	411	A>T		No	ClinGen gnomAD
CA402962402 rs1207535623	411	A>V		No	ClinGen gnomAD
rs200418870 CA9030343	414	W>*		No	ClinGen ExAC TOPMed gnomAD
rs545415520 CA303979709	414	W>C		No	ClinGen 1000Genomes gnomAD
CA402962452 rs2240157	414	W>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9030342 rs2240157 VAR_019678	414	W>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1193630389 CA402962467	415	P>A		No	ClinGen gnomAD
rs1193630389 CA402962470	415	P>S		No	ClinGen gnomAD
TCGA novel	416	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777662897 CA9030345	417	L>V		No	ClinGen ExAC TOPMed gnomAD
rs770812032 CA9030347	418	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9030348 rs201293199	418	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA402962535 rs201293199	418	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA9030346 rs770812032	418	R>S		No	ClinGen ExAC TOPMed gnomAD
CA9030350 rs199836408	421	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	424	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147521452 CA9030353	425	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs761357444 CA9030354	428	V>M		No	ClinGen ExAC gnomAD
rs1472137565 CA402962768	430	A>P		No	ClinGen TOPMed
rs1472137565 CA402962771	430	A>S		No	ClinGen TOPMed
CA9030355 rs766848212	430	A>V		No	ClinGen ExAC TOPMed gnomAD
rs754387721 CA9030356	431	R>C		No	ClinGen ExAC TOPMed gnomAD
rs201092021 COSM320715 CA9030357	431	R>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs563617329 CA303979710	433	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs563617329 CA9030359	433	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA9030362 rs201638380	435	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781058218 CA9030364	437	G>R		No	ClinGen ExAC TOPMed gnomAD
rs745740525 CA9030365	440	P>R		No	ClinGen ExAC gnomAD
rs1461530460 CA402962999	440	P>T		No	ClinGen gnomAD
CA402963030 rs1383644556	441	A>V		No	ClinGen TOPMed gnomAD
CA402963055 rs892110155	443	Q>*		No	ClinGen TOPMed gnomAD
CA402963062 rs1404462595	443	Q>H		No	ClinGen TOPMed
CA303979711 rs892110155	443	Q>K		No	ClinGen TOPMed gnomAD
CA9030369 rs768236351	443	Q>P		No	ClinGen ExAC gnomAD
rs768236351 CA402963058	443	Q>R		No	ClinGen ExAC gnomAD
rs1335490154 CA402963077	444	L>P		No	ClinGen gnomAD
rs774035095 CA9030370	445	C>G		No	ClinGen ExAC TOPMed gnomAD
rs761292242 CA9030371	446	L>R		No	ClinGen ExAC gnomAD
rs771611326 CA9030372	447	D>E		No	ClinGen ExAC TOPMed gnomAD
rs751621630 CA303979712	447	D>N		No	ClinGen gnomAD
rs760067939 CA9030374	448	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1190517002 CA402963137	449	G>C		No	ClinGen TOPMed gnomAD
rs1190517002 CA402963141	449	G>S		No	ClinGen TOPMed gnomAD
rs753149188 CA9030376	450	T>P		No	ClinGen ExAC gnomAD
rs1455277873 CA402963699	451	N>D		No	ClinGen gnomAD
CA9030380 rs201601935	452	D>N		No	ClinGen ExAC TOPMed gnomAD
rs757287420 CA9030381	453	S>L		No	ClinGen ExAC TOPMed gnomAD
CA402963718 rs1356341027	454	A>T		No	ClinGen gnomAD
CA9030383 rs149732272	455	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs145632166 CA9030386	457	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778500000 CA303979758	458	A>G		No	ClinGen ExAC TOPMed gnomAD
CA9030387 rs61750461	458	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9030388 rs778500000	458	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1485786073 CA402963806	459	L>P		No	ClinGen gnomAD
rs76859376 CA303979764	460	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9030392 rs568781579	461	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9030395 rs770471437	462	A>T		No	ClinGen ExAC TOPMed gnomAD
rs377106421 CA9030396	462	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs763293595 CA9030397	463	L>V		No	ClinGen ExAC gnomAD
TCGA novel	464	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9030400 rs774451027	465	N>K		No	ClinGen ExAC gnomAD
CA303979775 rs964135310	466	G>S		No	ClinGen TOPMed
CA402963913 rs1306831767	467	S>T		No	ClinGen gnomAD
rs1237221247 CA402963933	468	A>P		No	ClinGen gnomAD
rs750543592 CA9030405	468	A>V		No	ClinGen ExAC gnomAD
rs933848477 CA303979790	469	P>S		No	ClinGen TOPMed
rs533006807 CA303979793	470	R>C		No	ClinGen TOPMed gnomAD
rs1253903191 VAR_079918 CA402963975	470	R>H	found in a patient with schizophrenia; unknown pathological significance [UniProt]	No	ClinGen UniProt dbSNP gnomAD
rs1253903191 CA402963980	470	R>L		No	ClinGen gnomAD
rs753813570 CA9030408	471	A>D		No	ClinGen ExAC gnomAD
rs1599457596 CA402964011 VAR_079919	472	L>P	found in a patient with autism spectrum disorder; unknown pathological significance [UniProt]	No	ClinGen UniProt Ensembl dbSNP
rs754737058 CA9030409	473	R>C		No	ClinGen ExAC TOPMed gnomAD
rs754737058 CA9030410	473	R>G		No	ClinGen ExAC TOPMed gnomAD
rs747783907 COSM336089 CA9030411	473	R>H	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA402964031 rs747783907	473	R>L		No	ClinGen ExAC TOPMed gnomAD
CA402964028 rs747783907	473	R>P		No	ClinGen ExAC TOPMed gnomAD
CA402964035 rs1453603545	474	K>Q		No	ClinGen gnomAD
rs758162921 CA9030412	476	C>S		No	ClinGen ExAC gnomAD
CA402964094 rs758162921	476	C>Y		No	ClinGen ExAC gnomAD
CA9030413 rs777543158	477	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA303979804 rs945871154	478	G>S		No	ClinGen TOPMed gnomAD
rs776145597 CA9030416	479	Y>*		No	ClinGen ExAC TOPMed
CA9030415 rs140599178	479	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA303979808 rs1045561835	480	C>R		No	ClinGen Ensembl
CA402964206 rs1599457647	481	I>L		No	ClinGen Ensembl
CA402964216 rs1304870574	481	I>T		No	ClinGen gnomAD
rs558873297 CA9030419	485	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402964276 rs558873297	485	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9030421 rs767778650	486	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9030420 rs762054649	486	R>W		No	ClinGen ExAC TOPMed gnomAD
rs201400509 CA9030422	487	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1253584758 CA402964314	487	L>R		No	ClinGen gnomAD
CA9030423 rs201400509	487	L>V		No	ClinGen ExAC TOPMed gnomAD
rs199811690 CA9030425	488	A>G		No	ClinGen ExAC TOPMed gnomAD
CA9030424 rs766382202	488	A>T		No	ClinGen ExAC gnomAD
rs199811690 CA9030426	488	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9030430 rs201453184	489	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1001941197 CA303979822	489	E>D		No	ClinGen TOPMed
rs201453184 CA9030429	489	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs752584001 CA9030428	489	E>K		No	ClinGen ExAC gnomAD
rs878889783 CA303979825	490	D>G		No	ClinGen gnomAD
rs1488238745 CA402964335	490	D>N		No	ClinGen gnomAD
COSM3692282 CA9030431 rs746593296	491	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1599457729 CA402964361	492	P>T		No	ClinGen Ensembl
rs374588471 CA9030435	494	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs748572980 CA402964465	495	F>L		No	ClinGen ExAC TOPMed gnomAD
rs774699784 CA9030436	495	F>L		No	ClinGen ExAC gnomAD
rs148079660 CA9030439	496	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9030438 rs148079660	496	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1234603544 CA402964500	497	L>R		No	ClinGen gnomAD
CA303979834 rs557297164	498	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9030445 rs377572345	500	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9030444 rs377572345	500	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA9030446 rs762844769	501	G>D		No	ClinGen ExAC TOPMed gnomAD
rs780952297 CA9030448	503	G>S		No	ClinGen ExAC TOPMed gnomAD
CA402964646 rs1377023082	504	K>R		No	ClinGen TOPMed
CA402964688 rs377629131	506	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA9030451 rs749999498	506	G>D		No	ClinGen ExAC gnomAD
COSM3692283 rs377629131 CA9030450	506	G>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs779544648 CA9030453	507	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	507	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	508	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402964722 rs1422064978	508	L>P		No	ClinGen TOPMed
rs778067974 CA402964733	509	R>L		No	ClinGen ExAC TOPMed gnomAD
CA9030456 rs778067974	509	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9030455 rs140937568	509	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402964763 rs1354317125	511	G>D		No	ClinGen gnomAD
rs771231260 CA9030458	511	G>S		No	ClinGen ExAC TOPMed gnomAD
rs560397587 CA9030459	512	R>C		No	ClinGen ExAC TOPMed gnomAD
rs370718312 CA9030460	512	R>H		No	ClinGen ESP ExAC gnomAD
rs769694480 CA9030461	513	W>C		No	ClinGen ExAC TOPMed gnomAD
rs967264827 CA303979858	513	W>L		No	ClinGen TOPMed
rs981302100 CA402964818	514	T>A		No	ClinGen TOPMed gnomAD
rs981302100 CA303979862	514	T>P		No	ClinGen TOPMed gnomAD
rs375104717 CA9030463 VAR_079920	515	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1286407976 CA402964871	516	L>R		No	ClinGen TOPMed
CA9030465 rs751442184	517	V>I		No	ClinGen ExAC gnomAD
CA9030466 rs751442184	517	V>L		No	ClinGen ExAC gnomAD
CA9030469 rs755657151	518	G>E		No	ClinGen ExAC gnomAD
rs750041385 CA9030468	518	G>R		No	ClinGen ExAC TOPMed gnomAD
CA402964961 rs1249522834	520	L>R		No	ClinGen Ensembl
rs779377224 CA402964954	520	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1157357551 CA402964969	521	L>P		No	ClinGen TOPMed gnomAD
rs758940693 CA9030473	523	G>S		No	ClinGen ExAC TOPMed gnomAD
rs747428238 CA9030475	524	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9030474 rs79277136	524	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402965001 rs1445214432	525	A>P		No	ClinGen gnomAD
CA9030476 rs771193867	526	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA402965051 rs781479495	528	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1373979688 CA402965044	528	A>P		No	ClinGen gnomAD
CA9030477 rs781479495	528	A>V		No	ClinGen ExAC TOPMed gnomAD
CA402965072 rs1211808371	530	T>I		No	ClinGen gnomAD
CA9030480 rs775671499	531	S>R		No	ClinGen ExAC gnomAD
CA402965106 rs1206736542	532	F>L		No	ClinGen gnomAD
rs200427089 CA9030481	533	S>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9030482 rs768764234	534	I>M		No	ClinGen ExAC gnomAD
TCGA novel	534	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9030484 rs761737323	537	A>T		No	ClinGen ExAC gnomAD
CA9030486 rs369654068	538	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA9030487 rs760201230	538	R>H		No	ClinGen ExAC TOPMed gnomAD
CA402965176 rs369654068	538	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9030489 rs753392205	540	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs754468082 CA9030490 COSM389260	540	Q>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1599457960 CA402965210	542	V>G		No	ClinGen Ensembl
rs201275581 CA303979913	544	F>I		No	ClinGen 1000Genomes
rs200764507 CA9030492	546	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1302882683 CA402965237	546	S>R		No	ClinGen TOPMed gnomAD
CA402965241 rs1343120439	547	P>S		No	ClinGen gnomAD
CA303979923 rs997385828	550	S>A		No	ClinGen Ensembl
rs781361860 CA9030496	550	S>F		No	ClinGen ExAC gnomAD
CA9030497 rs147505119	552	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1469130780 CA402965275	552	S>I		No	ClinGen gnomAD
CA402965287 rs1193415635	554	G>V		No	ClinGen gnomAD
CA9030498 rs188035828	555	I>S		No	ClinGen 1000Genomes ExAC gnomAD
CA402965305 rs1476834423	556	M>V		No	ClinGen gnomAD
rs562464816 CA9030499	557	V>E		No	ClinGen 1000Genomes ExAC gnomAD
CA9030501 rs138502614	558	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs749437943 COSM1158537 CA9030500	558	R>W	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA9030502 rs774436628	559	A>V		No	ClinGen ExAC gnomAD
CA9030504 rs529697416	560	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9030503 rs143489067	560	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1433132437 CA402965362	561	D>G		No	ClinGen gnomAD
rs772846784 CA9030505	561	D>Y		No	ClinGen ExAC gnomAD
rs372884403 CA9030506	562	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA402965386 rs1259127880	563	A>G		No	ClinGen TOPMed
CA9030508 rs376296317	565	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA303979938 rs376296317	565	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA303979936 rs981352955	565	P>T		No	ClinGen gnomAD
CA9030510 rs368382957	566	I>M		No	ClinGen ExAC TOPMed gnomAD
CA402965433 rs1568390987	567	G>D		No	ClinGen Ensembl
CA9030511 rs566603277	567	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402965444 rs1282993828	568	A>G		No	ClinGen gnomAD
CA9030513 rs757664813	568	A>S		No	ClinGen ExAC TOPMed gnomAD
CA9030512 rs757664813	568	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9030514 rs750803476	570	M>K		No	ClinGen ExAC TOPMed gnomAD
rs1236837550 CA402965462	570	M>V		No	ClinGen TOPMed
COSM1398318 rs527469125 CA9030515	571	W>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1477177013 CA402965492	572	P>S		No	ClinGen gnomAD
CA9030516 rs199815808	573	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402965521 rs1216203646	574	H>Q		No	ClinGen TOPMed gnomAD
CA402965515 rs1419474839	574	H>R		No	ClinGen gnomAD
rs112116006 CA9030517	575	W>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs112116006 CA9030518	575	W>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9030519 rs779091346	576	S>P		No	ClinGen ExAC gnomAD
CA402965544 rs1388251997	576	S>Y		No	ClinGen TOPMed gnomAD
rs2240158 CA9030520 VAR_019679	577	T>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA402965572 rs1340132325	578	W>*		No	ClinGen gnomAD
rs1340132325 CA402965575	578	W>C		No	ClinGen gnomAD
rs746787377 CA402965599	581	V>F		No	ClinGen ExAC gnomAD
CA9030523 rs746787377	581	V>I		No	ClinGen ExAC gnomAD
CA9030525 rs776325201	582	F>Y		No	ClinGen ExAC TOPMed gnomAD
CA9030526 rs759167823	583	A>S		No	ClinGen ExAC
CA9030527 VAR_079921 rs769335041 COSM123484	583	A>V	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD
CA402965653 rs1263676751	585	L>P		No	ClinGen TOPMed
TCGA novel	586	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1284079631 CA402965659	586	H>Y		No	ClinGen gnomAD
CA9030531 rs767921850	587	L>R		No	ClinGen ExAC TOPMed
rs1191120068 CA402965673	587	L>V		No	ClinGen gnomAD
rs750874613 CA9030532	588	T>P		No	ClinGen ExAC gnomAD
CA9030534 rs766834763	589	A>T		No	ClinGen ExAC TOPMed gnomAD
CA402965698 COSM438434 rs1366648289	589	A>V	Variant assessed as Somatic; 4.626e-05 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA402965706 rs1158913310	590	L>F		No	ClinGen gnomAD
CA9030536 rs755216578	590	L>P		No	ClinGen ExAC gnomAD
rs779232737 CA9030537	591	F>L		No	ClinGen ExAC gnomAD
rs752736885 CA9030538	592	L>F		No	ClinGen ExAC TOPMed gnomAD
CA303979969 rs900050310	592	L>P		No	ClinGen TOPMed
rs1376093805 CA402965737	593	T>A		No	ClinGen TOPMed gnomAD
rs758440584 CA9030539	593	T>S		No	ClinGen ExAC gnomAD
rs746954525 CA9030541	594	V>M		No	ClinGen ExAC TOPMed gnomAD
CA9030543 rs770764248	595	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs745623964 CA9030544	596	E>K		No	ClinGen ExAC TOPMed gnomAD
CA402965786 rs745623964	596	E>Q		No	ClinGen ExAC TOPMed gnomAD
VAR_079922 CA9030545 rs139187576	598	R>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs372595568 CA9030546	598	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA9030547 rs762373663	599	S>R		No	ClinGen ExAC
rs1485675989 CA402965844	600	P>H		No	ClinGen TOPMed gnomAD
rs768207134 CA9030548	600	P>S		No	ClinGen ExAC TOPMed gnomAD
CA402965842 rs768207134	600	P>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	601	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs556153075 CA9030551	602	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA402965892 rs765385702	604	T>K		No	ClinGen ExAC TOPMed gnomAD
CA9030556 rs758468524	605	P>T		No	ClinGen ExAC gnomAD
CA402965913 rs1465782813	606	R>C		No	ClinGen TOPMed gnomAD
rs139930791 CA9030557	606	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA303979983 rs139930791	606	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs751539188 CA9030558	607	G>R		No	ClinGen ExAC gnomAD
CA9030559 rs144243602	608	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA9030560 rs540348423 VAR_079923	608	R>H		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1375097753 CA402965950	609	N>K		No	ClinGen gnomAD
rs145253713 CA9030561	610	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402965958 rs145253713	610	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs78360368 CA9030562	610	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402965966 rs1599458321	611	S>G		No	ClinGen Ensembl
rs60621387 CA9030563 VAR_061188	612	T>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9030564 rs748955009	612	T>I		No	ClinGen ExAC gnomAD
CA9030566 rs79866475	613	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1196256188 CA402966001	614	F>S		No	ClinGen gnomAD
rs77498660 CA303979993	615	S>F		No	ClinGen Ensembl
CA303979991 rs377080093	615	S>P		No	ClinGen Ensembl
CA402966046 rs1456227175	617	S>F		No	ClinGen gnomAD
rs747617576 CA9030568	618	S>L		No	ClinGen ExAC gnomAD
CA402966068 rs1253467122	619	A>S		No	ClinGen gnomAD
CA402966086 rs1241763344	620	L>F		No	ClinGen Ensembl
rs868743924 CA303979998	621	N>D		No	ClinGen Ensembl
rs1432790226 CA402966100	621	N>I		No	ClinGen gnomAD
rs866287294 CA303980000	623	C>R		No	ClinGen Ensembl
rs760049445 CA9030571	625	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9030572 rs765625485	625	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9030573 rs143237368	626	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1456104518 CA402966192	627	L>V		No	ClinGen gnomAD
CA9030574 rs151255899	630	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs141844970 CA9030575	630	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA402966248 rs151255899	630	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9030579 rs750355849	632	V>A		No	ClinGen ExAC gnomAD
rs541884704 CA9030578	632	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	634	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868736382 CA303980009	634	S>N		No	ClinGen Ensembl
CA9030580 rs200178820	636	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402966353 rs1308706336	636	T>S		No	ClinGen gnomAD
TCGA novel	638	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9030582 rs147118824	638	K>N		No	ClinGen ESP ExAC gnomAD
rs754686985 CA9030583	639	C>R		No	ClinGen ExAC gnomAD
VAR_079924 rs778377243 CA9030584	641	T>M	found in a patient with autism spectrum disorder; unknown pathological significance [UniProt]	No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs1265788787	641	T>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs78844421 CA9030586	643	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9030587 rs147694026	643	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402966482 rs1599458470	644	L>M		No	ClinGen Ensembl
CA9030588 rs570614338	645	L>I		No	ClinGen 1000Genomes ExAC gnomAD
CA9030592 rs764389800	646	M>I		No	ClinGen ExAC TOPMed gnomAD
rs763179471 CA9030591	646	M>T		No	ClinGen ExAC gnomAD
rs200400100 CA9030590	646	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1599458503 CA402966541	647	N>T		No	ClinGen Ensembl
CA402966538 rs1456741683	647	N>Y		No	ClinGen gnomAD
rs1446224020 CA402966566	649	W>*		No	ClinGen TOPMed gnomAD
CA402966587 rs1332287002	650	A>V		No	ClinGen gnomAD
rs1291359417 CA402966602	651	I>M		No	ClinGen gnomAD
rs1406940867 CA402966612	652	F>S		No	ClinGen TOPMed
CA9030595 rs767570041	655	L>M		No	ClinGen ExAC TOPMed gnomAD
CA402966652 rs1337838530	655	L>P		No	ClinGen gnomAD
CA303980027 rs992107829	656	V>M		No	ClinGen TOPMed
rs760627552 CA9030597	657	L>V		No	ClinGen ExAC TOPMed gnomAD
CA9030599 rs753685745	658	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA9030600 rs754667370	659	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1255015031 CA402966724	661	T>A		No	ClinGen TOPMed
rs778778958 CA9030601	661	T>M		No	ClinGen ExAC TOPMed gnomAD
CA9030603 rs758034341	662	A>V		No	ClinGen ExAC gnomAD
rs1182908233 CA402966754	663	N>S		No	ClinGen gnomAD
rs1003563642 CA303980035	665	A>V		No	ClinGen Ensembl
rs202188271 CA9030605	666	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs550025296 CA9030607	667	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768898553 CA9030609	668	M>T		No	ClinGen ExAC gnomAD
rs929014015 CA402966829	669	V>F		No	ClinGen TOPMed gnomAD
rs929014015 CA303980044	669	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs144000255 CA9030612 CA9030611	670	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9030613 rs773309140	671	D>V		No	ClinGen ExAC gnomAD
rs369845966 CA9030614	672	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs759438437 CA9030617	675	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	677	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402966985 rs1284184060	677	L>P		No	ClinGen gnomAD
rs138448790 CA9030621 VAR_079925	678	S>L		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
rs138448790 CA9030622	678	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs769055248 CA9030626	681	H>Y		No	ClinGen ExAC gnomAD
rs1015310421 CA303980057	682	D>N		No	ClinGen TOPMed gnomAD
CA402967105 rs1157609355	683	P>L		No	ClinGen gnomAD
rs1436267052	684	K>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1378117968 CA402967131	684	K>M		No	ClinGen gnomAD
rs1245771547 CA402968319	686	H>N		No	ClinGen gnomAD
rs1016040268 CA303980731	688	P>L		No	ClinGen TOPMed gnomAD
rs1016040268 CA402968366	688	P>Q		No	ClinGen TOPMed gnomAD
rs1016040268 CA402968367	688	P>R		No	ClinGen TOPMed gnomAD
rs1049939727 CA303980732	689	A>T		No	ClinGen TOPMed
rs1171395767 CA402968384	690	Q>*		No	ClinGen gnomAD
CA303980734 rs890052638	690	Q>P		No	ClinGen TOPMed
rs762161148 CA303980735	691	G>D		No	ClinGen Ensembl
rs1423800036 CA402968471	693	R>C		No	ClinGen gnomAD
CA402968475 rs1465008411	693	R>H		No	ClinGen gnomAD
rs1315085538 CA402968520	695	G>C		No	ClinGen TOPMed
rs1315085538 CA402968518	695	G>R		No	ClinGen TOPMed
CA402968516 rs1315085538	695	G>S		No	ClinGen TOPMed
rs1405745160 CA402968569	697	V>A		No	ClinGen gnomAD
CA9030646 rs371086518	697	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA303980738 rs902540138	698	W>*		No	ClinGen TOPMed gnomAD
rs902540138 CA402968607	698	W>C		No	ClinGen TOPMed gnomAD
rs1041049937 CA303980737	698	W>S		No	ClinGen TOPMed gnomAD
rs779340145 CA9030647	699	E>D		No	ClinGen ExAC gnomAD
CA402968706 rs1278892401	700	S>C		No	ClinGen gnomAD
rs1278892401 CA402968704	700	S>G		No	ClinGen gnomAD
CA303980740 rs201299606	701	S>I		No	ClinGen 1000Genomes
CA402968751 rs1339998405	701	S>R		No	ClinGen gnomAD
CA402968762 rs1217281534	702	A>D		No	ClinGen TOPMed gnomAD
CA402968765 rs1217281534	702	A>G		No	ClinGen TOPMed gnomAD
CA402968767 rs1217281534	702	A>V		No	ClinGen TOPMed gnomAD
CA402968782 rs758691413	703	E>*		No	ClinGen ExAC gnomAD
CA9030649 rs758691413	703	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1288243158 CA402968817	704	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1218386864 CA402968850	705	Y>H		No	ClinGen gnomAD
CA9030651 rs747179788	705	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs776608233 CA9030653	706	I>T		No	ClinGen ExAC gnomAD
rs150675081 CA9030652	706	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1473120624 CA402968938	708	K>*		No	ClinGen gnomAD
rs1388363759 CA402969072	711	P>T		No	ClinGen gnomAD
rs1398231982 CA402969129	713	M>I		No	ClinGen gnomAD
rs1359932467 CA402969122	713	M>T		No	ClinGen gnomAD
TCGA novel	714	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1341579227 CA402969183	715	A>V		No	ClinGen gnomAD
rs1282755636 CA402969198	716	H>Q		No	ClinGen gnomAD
CA303980746 rs570362912	717	M>I		No	ClinGen 1000Genomes gnomAD
CA402969207 rs1241818307	717	M>K		No	ClinGen gnomAD
CA9030655 rs374467601	717	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1247511490 CA402969223	718	R>Q		No	ClinGen TOPMed
rs368362965 CA303980749	718	R>W		No	ClinGen ESP TOPMed gnomAD
rs1257743921 CA402969232	719	R>C		No	ClinGen gnomAD
CA402969241 rs1257743921	719	R>G		No	ClinGen gnomAD
CA402969243 rs1442907259	719	R>H		No	ClinGen gnomAD
rs1022847275 CA303980751	720	H>N		No	ClinGen TOPMed
rs1366445622 CA402969255	720	H>P		No	ClinGen gnomAD
CA402969264 rs1441342400	720	H>Q		No	ClinGen gnomAD
rs1366445622 CA402969257	720	H>R		No	ClinGen gnomAD
TCGA novel rs969996342 CA303980753	721	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed gnomAD NCI-TCGA
rs1379928315 CA402969289	722	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA402969300 rs1418162228	722	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA402969315 rs1174384589	723	P>H		No	ClinGen gnomAD
CA402969309 rs1174384589	723	P>L		No	ClinGen gnomAD
CA402969335 rs1568392447	725	T>P		No	ClinGen Ensembl
rs763967887 CA9030659	726	P>L		No	ClinGen ExAC TOPMed gnomAD
CA303980757 rs767648585	727	R>H		No	ClinGen gnomAD
CA402969422 rs1448003337	728	G>D		No	ClinGen gnomAD
rs1366413275 CA402969410	728	G>S		No	ClinGen TOPMed
CA402969436 rs1379813880	729	V>A		No	ClinGen TOPMed
CA402969440 rs1379813880	729	V>G		No	ClinGen TOPMed
CA402969445 rs1352525326	730	A>T		No	ClinGen gnomAD
rs1245487311 CA402969471	731	M>V		No	ClinGen TOPMed
rs537364397 CA303980761	732	L>R		No	ClinGen 1000Genomes TOPMed gnomAD
rs760240887 CA9030687	735	D>E		No	ClinGen ExAC gnomAD
rs1568392663 CA402969682	735	D>G		No	ClinGen Ensembl
CA402969676 TCGA novel rs1599460874	735	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
CA9030688 rs144432988	736	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA9030689 rs144432988	736	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9030691 rs577760723	737	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs148406831 CA9030692	737	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148406831 CA9030694	737	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9030693 rs148406831	737	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9030690 rs577760723	737	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs577760723 CA402969728	737	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756309853 CA9030697	738	K>N		No	ClinGen ExAC gnomAD
CA402969752 rs1426132338	738	K>R		No	ClinGen TOPMed gnomAD
rs952462581 CA303980782	739	L>F		No	ClinGen TOPMed gnomAD
CA402969801 rs1457075815	740	N>K		No	ClinGen TOPMed gnomAD
rs749339005 CA402969805	741	A>D		No	ClinGen ExAC TOPMed gnomAD
rs749339005 CA9030698	741	A>V		No	ClinGen ExAC TOPMed gnomAD
CA303980784 rs985211442	742	F>V		No	ClinGen TOPMed
CA402969882 rs1400094333	743	I>M		No	ClinGen gnomAD
rs142637512 CA9030700	744	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA303980785 rs368118765	745	D>E		No	ClinGen ESP TOPMed
CA402969910 rs1359777027	745	D>H		No	ClinGen TOPMed gnomAD
rs1359777027 CA402969914	745	D>Y		No	ClinGen TOPMed gnomAD
rs1229999834 CA402969939	746	K>R		No	ClinGen TOPMed gnomAD
rs146031397 CA9030701	747	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402969952 rs1244885741	747	S>P		No	ClinGen TOPMed
rs1488623016 CA402970071	751	Y>*		No	ClinGen TOPMed gnomAD
rs139897544 CA9030704	751	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs139897544 CA402970064	751	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA9030705 rs760293810	752	E>K		No	ClinGen ExAC TOPMed gnomAD
CA402970185 rs1183000741	754	S>C		No	ClinGen gnomAD
rs759031411 CA9030709	756	D>N		No	ClinGen ExAC gnomAD
CA402971084 rs764514861	757	A>S		No	ClinGen ExAC TOPMed gnomAD
rs764514861 CA9030710	757	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9030712 rs762142729	758	D>E		No	ClinGen ExAC TOPMed gnomAD
CA402971101 rs1157498191	758	D>N		No	ClinGen TOPMed gnomAD
CA402971104 rs1157498191	758	D>Y		No	ClinGen TOPMed gnomAD
CA9030713 rs767902694	760	K>E		No	ClinGen ExAC
rs1450072601 CA402971196	762	L>P		No	ClinGen TOPMed gnomAD
rs1450072601 CA402971199	762	L>R		No	ClinGen TOPMed gnomAD
rs756436281 CA9030715	764	V>L		No	ClinGen ExAC gnomAD
rs1311253681 CA402971273	765	G>*		No	ClinGen gnomAD
rs1239743627 CA402971310	767	P>S		No	ClinGen gnomAD
rs964944972 CA303980792	768	F>L		No	ClinGen Ensembl
rs201937512 CA9030718	769	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778778005 CA9030719	770	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1343742957 CA402971550	772	G>D		No	ClinGen gnomAD
CA402971421 rs200432745	772	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9030720 rs200432745	772	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1220956345 CA402971565	773	Y>C		No	ClinGen gnomAD
CA402971587 rs1262879418	774	G>A		No	ClinGen gnomAD
CA9030748 rs745513018	775	I>T		No	ClinGen ExAC gnomAD
rs369547465 CA9030749	776	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA402971631 rs1221914573	777	L>Q		No	ClinGen gnomAD
rs748696110 CA9030751	777	L>V		No	ClinGen ExAC gnomAD
CA9030752 rs372793600	778	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9030753 rs372793600	778	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1489657134 CA402971652	779	Q>*		No	ClinGen gnomAD
rs761184700 CA9030754	779	Q>L		No	ClinGen ExAC gnomAD
TCGA novel	780	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9030755 rs766832820	780	N>S		No	ClinGen ExAC gnomAD
rs776765273 CA9030756	781	S>L		No	ClinGen ExAC TOPMed gnomAD
rs373330225 CA9030760	782	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA402971705 rs373330225	782	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs373330225 CA9030761	782	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs151208360 CA303980834	782	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9030759 rs151208360	782	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1264373888 CA402971712	783	L>I		No	ClinGen TOPMed
CA9030764 rs751485809	784	T>A		No	ClinGen ExAC gnomAD
CA303980839 rs751485809	784	T>P		No	ClinGen ExAC gnomAD
CA402971762 rs1568393136	786	N>D		No	ClinGen Ensembl
rs374542881 COSM990335 CA9030767	789	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA402971799 rs374542881	789	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA303980846 rs890188741	790	F>C		No	ClinGen TOPMed
rs1286302047 CA402971844	791	I>T		No	ClinGen gnomAD
rs1225932892 CA402971835	791	I>V		No	ClinGen gnomAD
rs202092512 COSM1239027 CA9030768	793	R>C	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1228498109 CA402971867 COSM1711561	793	R>H	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA303980849 rs980852398	795	K>N		No	ClinGen TOPMed
rs1017272218 CA303980848	795	K>R		No	ClinGen Ensembl
rs755812271 CA9030769	796	S>F		No	ClinGen ExAC TOPMed gnomAD
rs778478219 CA9030773	798	G>D		No	ClinGen ExAC TOPMed gnomAD
CA9030772 rs139755201	798	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA303980857 rs897028729	800	I>N		No	ClinGen TOPMed
CA402972065 rs1163101994	801	D>E		No	ClinGen gnomAD
CA9030774 rs747493095	801	D>G		No	ClinGen ExAC gnomAD
rs868306075 CA303980859	801	D>N		No	ClinGen Ensembl
rs1383599940 CA402972101	803	L>F		No	ClinGen gnomAD
CA9030775 rs557070048	803	L>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9030778 rs759763639	804	H>P		No	ClinGen ExAC gnomAD
CA303980864 rs929882528	804	H>Y		No	ClinGen TOPMed
CA402972164 rs1336758597	805	D>G		No	ClinGen gnomAD
rs575518840 CA9030779	805	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs374423940 CA402972173	806	K>*		No	ClinGen ESP TOPMed
rs374423940 CA303980868	806	K>E		No	ClinGen ESP TOPMed
CA402972321 rs1454175675	811	V>L		No	ClinGen gnomAD
CA303980870 rs1048316485	812	P>S		No	ClinGen TOPMed
CA9030780 rs775574731	813	C>*		No	ClinGen ExAC TOPMed gnomAD
CA402972378 rs1341378599	813	C>Y		No	ClinGen gnomAD
CA402972405 rs1599461729	814	G>D		No	ClinGen Ensembl
CA9030782 rs764137181	814	G>S		No	ClinGen ExAC TOPMed gnomAD
CA9030784 rs761771815	815	K>N		No	ClinGen ExAC TOPMed gnomAD
rs145692590 CA9030783	815	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1286046297 CA402972436	816	R>G		No	ClinGen TOPMed gnomAD
CA402972451 rs77030329	816	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs77030329 CA9030786	816	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402972433 rs1286046297	816	R>W		No	ClinGen TOPMed gnomAD
rs755798638 CA9030787	817	V>F		No	ClinGen ExAC gnomAD
rs753524667 CA9030789	818	F>L		No	ClinGen ExAC TOPMed gnomAD
CA9030791 rs754580037	819	A>E		No	ClinGen ExAC TOPMed gnomAD
rs754580037 CA9030790	819	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9030793 rs771581483	820	V>D		No	ClinGen ExAC TOPMed gnomAD
rs1599461795 CA402972557	822	E>G		No	ClinGen Ensembl
CA9030794 rs781488497	822	E>K		No	ClinGen ExAC gnomAD
rs766297511 CA402972704	823	T>I		No	ClinGen ExAC TOPMed gnomAD
rs766297511 CA9030842	823	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1460111996 CA402972715	825	Q>H		No	ClinGen gnomAD
CA9030843 rs776586875	825	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA402972725 rs1412390938	826	M>I		No	ClinGen TOPMed
rs759340074 CA9030844	826	M>V		No	ClinGen ExAC gnomAD
rs1365589972 CA402972736	827	S>N		No	ClinGen gnomAD
CA9030846 rs752388570	828	I>M		No	ClinGen ExAC gnomAD
CA402972756 rs1300810705	828	I>T		No	ClinGen gnomAD
CA402972769 rs1382748465	829	Y>F		No	ClinGen gnomAD
rs757980012 CA9030847	830	H>P		No	ClinGen ExAC gnomAD
CA402972811 rs1247178156	831	F>L		No	ClinGen gnomAD
rs763480684 CA9030848	831	F>L		No	ClinGen ExAC gnomAD
CA402972821 rs1292797212	831	F>S		No	ClinGen gnomAD
CA9030849 rs78914045	832	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402972838 rs78914045	832	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA303981036 rs867266865	832	A>P		No	ClinGen gnomAD
rs867266865 CA402972828	832	A>T		No	ClinGen gnomAD
rs78914045 CA9030850	832	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780479147 CA303981041	833	G>D		No	ClinGen ExAC gnomAD
rs780479147 CA9030851	833	G>V		No	ClinGen ExAC gnomAD
CA9030852 rs749656837	834	L>P		No	ClinGen ExAC gnomAD
CA303981046 rs879355156	834	L>V		No	ClinGen Ensembl
rs772230740 CA9030856	836	V>A		No	ClinGen ExAC gnomAD
rs748291838 CA9030855	836	V>L		No	ClinGen ExAC TOPMed gnomAD
CA402972927 rs1161098999	837	L>*		No	ClinGen gnomAD
rs1454212281 CA402972973	839	C>F		No	ClinGen TOPMed gnomAD
CA402972966 rs1568393758	839	C>G		No	ClinGen Ensembl
rs1454212281 CA402972969	839	C>Y		No	ClinGen TOPMed gnomAD
CA9030859 rs747060351	840	L>P		No	ClinGen ExAC gnomAD
rs1315547283 CA402973027	843	G>D		No	ClinGen gnomAD
TCGA novel	844	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_019680 rs2285906 CA9030861	845	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA402973055 rs1343237158	848	S>R		No	ClinGen TOPMed
rs1184589445 CA402973065	849	S>*		No	ClinGen gnomAD
CA9030863 rs765106552	849	S>A		No	ClinGen ExAC gnomAD
rs762545444 CA9030865	850	L>P		No	ClinGen ExAC gnomAD
rs1386826113 CA402973069	850	L>V		No	ClinGen TOPMed
rs201161474 CA9030866	851	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9030868 RCV000961570 rs61744375	852	E>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1343360657 CA402973085	853	H>D		No	ClinGen gnomAD
CA9030870 rs766936575	854	A>S		No	ClinGen ExAC gnomAD
rs766936575 CA9030869	854	A>T		No	ClinGen ExAC gnomAD
rs1389305653 CA402973103	854	A>V		No	ClinGen TOPMed
rs753062184 CA9030873	855	F>L		No	ClinGen ExAC gnomAD
CA9030872 rs779213254	855	F>S		No	ClinGen ExAC gnomAD
CA9030871 rs755385031	855	F>V		No	ClinGen ExAC gnomAD
rs758569176 CA9030874	856	F>Y		No	ClinGen ExAC gnomAD
rs572399176 CA303981071	857	R>C		No	ClinGen ExAC TOPMed gnomAD
rs572399176 CA9030876	857	R>G		No	ClinGen ExAC TOPMed gnomAD
rs771123779 CA402973138	857	R>H		No	ClinGen ExAC TOPMed gnomAD
CA9030877 rs771123779	857	R>L		No	ClinGen ExAC TOPMed gnomAD
rs572399176 CA402973135	857	R>S		No	ClinGen ExAC TOPMed gnomAD
rs867567163 CA303981075	858	L>P		No	ClinGen TOPMed gnomAD
CA9030879 rs142667043	859	A>V		No	ClinGen ESP ExAC gnomAD
CA9030882 rs762752908	861	P>L		No	ClinGen ExAC TOPMed gnomAD
rs774047875 CA9030884	863	I>V		No	ClinGen ExAC TOPMed gnomAD
COSM990338 CA9030885 rs761286442	864	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA402973225 rs1468054301	864	R>L		No	ClinGen gnomAD
CA9030887 rs766991579	865	K>T		No	ClinGen ExAC TOPMed gnomAD
CA9030889 rs760063089	866	G>E		No	ClinGen ExAC gnomAD
rs1296500173 CA402973249 COSM1208988	866	G>W	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA402973259 rs1381223013	867	S>G		No	ClinGen TOPMed
CA402973280 rs1568393919	868	R>K		No	ClinGen Ensembl
CA402973287 rs1283218479	868	R>S		No	ClinGen gnomAD
rs1322104654 CA402973293	869	L>P		No	ClinGen gnomAD
rs1365839787 CA402973303	870	Q>R		No	ClinGen TOPMed
CA402973318 rs1220844544	871	Y>S		No	ClinGen gnomAD
CA9030892 rs758788427	874	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA303981094 rs921708348	874	H>R		No	ClinGen TOPMed gnomAD
CA402973387 rs1203397974	874	H>Y		No	ClinGen TOPMed gnomAD
rs536478493 CA9030893	876	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs554888496 CA9030894	876	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA402973442 CA402973439 rs757457257	876	S>R		No	ClinGen ExAC gnomAD
rs1420025269 CA402973446	877	Q>K		No	ClinGen gnomAD
rs781452577 CA9030896	877	Q>R		No	ClinGen ExAC TOPMed
CA402973572 rs1244795898	878	K>E		No	ClinGen gnomAD
CA402973575 rs1445409079	878	K>T		No	ClinGen gnomAD
CA402973595 rs1183250979 COSM3959452	879	I>S	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA402973587 rs1599463123	879	I>V		No	ClinGen Ensembl
CA402973604 rs1383386252	880	H>Y		No	ClinGen gnomAD
rs763551432 CA9030936	881	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9030935 rs763551432	881	R>G		No	ClinGen ExAC TOPMed gnomAD
CA402973621 rs774869873	881	R>H		No	ClinGen ExAC TOPMed gnomAD
CA303981153 rs774869873	881	R>L		No	ClinGen ExAC TOPMed gnomAD
CA9030937 rs774869873	881	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1339083576 CA402973631	882	A>G		No	ClinGen gnomAD
CA9030939 rs762202686	882	A>S		No	ClinGen ExAC TOPMed gnomAD
CA9030938 rs762202686	882	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9030941 rs181691646	883	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402973641 rs1313931708	884	N>D		No	ClinGen gnomAD
CA9030942 rs766447041	884	N>S		No	ClinGen ExAC gnomAD
CA9030943 rs753816241	885	T>P		No	ClinGen ExAC gnomAD
rs200081897 CA9030944	885	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402973669 rs758183016	886	E>*		No	ClinGen ExAC TOPMed gnomAD
rs987179785 CA303981160	886	E>D		No	ClinGen Ensembl
rs758183016 CA9030947	886	E>K		No	ClinGen ExAC TOPMed gnomAD
rs376554911 CA9030948	887	P>T		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA9030950 rs150329173	888	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1241512074 CA402973714	890	G>E		No	ClinGen gnomAD
rs776228228 CA9030952	891	S>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs776228228 CA9030951	891	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs774996661 CA303981173	894	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1568394199 CA402973825	894	E>V		No	ClinGen Ensembl
CA402973843 rs575414439	895	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9030956 rs575414439	895	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201960720 CA9030957	898	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs137857882 CA9030959	899	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs137857882 CA402973913	899	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	900	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402974964 rs762900281	902	G>A		No	ClinGen ExAC TOPMed gnomAD
CA9030984 rs762900281	902	G>D		No	ClinGen ExAC TOPMed gnomAD
CA402974958 rs1402900242	902	G>S		No	ClinGen gnomAD
rs1486515961 CA402974998	904	E>*		No	ClinGen gnomAD
rs1204882987 CA402975003	904	E>D		No	ClinGen TOPMed gnomAD
CA9030986 rs751378096	905	V>E		No	ClinGen ExAC TOPMed gnomAD
CA9030985 rs763962722	905	V>M		No	ClinGen ExAC gnomAD
CA303982029 rs898726271	906	E>D		No	ClinGen Ensembl
rs1599463771 CA402975057	907	Q>E		No	ClinGen Ensembl
rs74549450 CA9030990	907	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1385245834 CA402975083	908	Q>*		No	ClinGen gnomAD
CA402975101 rs1568394530	909	Q>*		No	ClinGen Ensembl
CA402975119 rs1374866764	909	Q>H		No	ClinGen gnomAD
CA402975126 rs1443495612	910	Q>*		No	ClinGen gnomAD
rs200925289 CA303982032	912	Q>E		No	ClinGen gnomAD
CA402975191 rs1437021719	913	D>N		No	ClinGen TOPMed
rs1351558820 CA402975218	914	Q>*		No	ClinGen TOPMed
CA402975263 rs1454285744	915	P>L		No	ClinGen gnomAD
CA402975240 rs1346891557	915	P>T		No	ClinGen gnomAD
rs887232813 CA303982036	916	T>A		No	ClinGen TOPMed gnomAD
rs1008725422 CA303982038	917	A>T		No	ClinGen TOPMed gnomAD
CA303982040 rs1041096973	918	P>L		No	ClinGen TOPMed gnomAD
CA9030993 VAR_079926 rs750024778	919	E>D	found in a patient with autism spectrum disorder; unknown pathological significance [UniProt]	No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA402975323 rs1226671963	919	E>K		No	ClinGen gnomAD
rs755723427 CA9030994	920	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1318027657 CA402975337	920	G>S		No	ClinGen gnomAD
rs1266585738 CA402975388	921	W>C		No	ClinGen gnomAD
rs550629298 CA9030996	923	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402975427 rs1246794400	923	R>Q		No	ClinGen TOPMed
CA9030995 rs550629298	923	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402975452 rs1482763044	924	A>E		No	ClinGen gnomAD
CA402975439 rs1243363060	924	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	924	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402975476 rs1270440714	925	R>C		No	ClinGen TOPMed
CA303982046 rs900530232	926	R>Q		No	ClinGen TOPMed gnomAD
CA9030997 rs772720199	926	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1219363502 CA402975570	927	A>P		No	ClinGen TOPMed
rs569006303 CA303982048	927	A>V		No	ClinGen 1000Genomes
CA9030998 rs200419950 VAR_079927	928	V>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs771184071 CA9031000	929	D>N		No	ClinGen ExAC gnomAD
rs771184071 CA402975637	929	D>Y		No	ClinGen ExAC gnomAD
CA9031001 rs776953312	932	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9031002 rs759709104	932	R>H		No	ClinGen ExAC gnomAD
rs1374192005 CA402975735	933	R>C		No	ClinGen TOPMed gnomAD
rs1391258056 CA402975760	934	V>L		No	ClinGen TOPMed gnomAD
CA402975754 rs1391258056	934	V>M		No	ClinGen TOPMed gnomAD
rs1287022184 CA402975787	935	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA303982058 rs548377039	939	E>*		No	ClinGen 1000Genomes
CA402975923 rs1262957342	940	P>L		No	ClinGen gnomAD
CA402975904 rs1176868934	940	P>S		No	ClinGen TOPMed
CA402975928 rs1311231682	941	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA402975956 rs1234045790	942	V>L		No	ClinGen gnomAD
rs1465768602 CA402976024	946	P>S		No	ClinGen TOPMed
CA402976045 rs1180895994	947	E>*		No	ClinGen gnomAD
TCGA novel	947	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1481398837 CA402976073	948	A>T		No	ClinGen TOPMed gnomAD
CA9031004 rs769956227 VAR_079928	948	A>V	found in a patient with schizophrenia; unknown pathological significance [UniProt]	No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA402976119 rs1294811085	949	D>E		No	ClinGen TOPMed
CA303982065 rs1052301784	950	A>T		No	ClinGen TOPMed gnomAD
COSM3718032 CA402976142 rs1355130133	950	A>V	Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1306332975 CA402976169	951	E>D		No	ClinGen TOPMed gnomAD
rs890936287 CA303982067	951	E>K		No	ClinGen TOPMed gnomAD
rs1368738349 CA402976182	952	A>G		No	ClinGen TOPMed
CA402976178 rs1467792065	952	A>P		No	ClinGen TOPMed
CA402976183 rs1368738349	952	A>V		No	ClinGen TOPMed
CA402976232 rs1168041216	954	A>T		No	ClinGen TOPMed
rs1009412900 CA303982069	954	A>V		No	ClinGen TOPMed
CA9031008 rs764089411	955	A>G		No	ClinGen ExAC
rs762957426 CA9031007	955	A>T		No	ClinGen ExAC TOPMed gnomAD
rs967947887 CA303982073	957	R>*		No	ClinGen TOPMed gnomAD
rs1217052331 CA402976326	959	G>D		No	ClinGen gnomAD
CA303982077 rs1001217364	961	V>A		No	ClinGen TOPMed gnomAD
rs761719156 CA9031010	961	V>I		No	ClinGen ExAC TOPMed gnomAD
CA402976364 rs1033330361	962	W>*		No	ClinGen TOPMed gnomAD
CA303982079 rs1033330361	962	W>C		No	ClinGen TOPMed gnomAD
CA402976380 rs1200102459	964	C>R		No	ClinGen TOPMed gnomAD
rs1200102459 CA402976378	964	C>S		No	ClinGen TOPMed gnomAD
CA402976386 rs1245848928	964	C>S		No	ClinGen TOPMed gnomAD
rs1245848928 CA402976381	964	C>Y		No	ClinGen TOPMed gnomAD
rs1339597801 CA402976394	965	S>P		No	ClinGen TOPMed
rs1420492104 CA402976419	966	Y>*		No	ClinGen TOPMed gnomAD
CA303982083 rs991893480	966	Y>C		No	ClinGen TOPMed gnomAD
CA9031012 rs10417824	966	Y>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1430556059 CA402976421	967	G>S		No	ClinGen TOPMed
rs1429397770 CA402976438	968	R>H		No	ClinGen gnomAD
rs753402342 CA402976452	969	P>L		No	ClinGen ExAC TOPMed
rs753402342 CA9031015	969	P>Q		No	ClinGen ExAC TOPMed
rs766067309 CA9031014	969	P>T		No	ClinGen ExAC
rs1348701589 CA402976466	971	A>T		No	ClinGen gnomAD
rs1599464456 CA402976488	972	A>G		No	ClinGen Ensembl
rs1271178770 CA402976480	972	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA402976507 rs1227238025	974	P>A		No	ClinGen TOPMed gnomAD
rs1227238025 CA402976508	974	P>S		No	ClinGen TOPMed gnomAD
CA9031019 rs778400426	975	T>R		No	ClinGen ExAC TOPMed
CA402976530 rs1483123258	976	G>R		No	ClinGen TOPMed
rs1294719776 CA402976541	977	A>D		No	ClinGen TOPMed gnomAD
rs1294719776 CA402976544	977	A>V		No	ClinGen TOPMed gnomAD
rs1039717256 CA303982097	978	P>L		No	ClinGen TOPMed gnomAD
CA402976547 rs1360982793	978	P>T		No	ClinGen TOPMed gnomAD
CA402976570 rs1449865841	979	Q>H		No	ClinGen TOPMed gnomAD
rs757745000 CA9031022	980	P>S		No	ClinGen ExAC gnomAD
rs757745000 CA9031023	980	P>T		No	ClinGen ExAC gnomAD
rs1449042289 CA402976585	981	G>R		No	ClinGen TOPMed gnomAD
rs1186913639 CA402976594	981	G>V		No	ClinGen gnomAD
CA303982102 rs145392111	982	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9031024 rs145392111	982	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770009379 CA9031025	983	L>P		No	ClinGen ExAC gnomAD
CA402976658 rs1319333653	987	E>Q		No	ClinGen TOPMed gnomAD
CA402976674 rs1388402484	988	R>G		No	ClinGen gnomAD
CA402976687 rs1433816538	989	R>H		No	ClinGen TOPMed gnomAD
rs1433816538 CA402976690	989	R>L		No	ClinGen TOPMed gnomAD
CA402976699 rs1318143176	990	I>T		No	ClinGen gnomAD
CA402976711 rs1246068057	991	E>A		No	ClinGen gnomAD
CA402976707 rs1472730869	991	E>Q		No	ClinGen TOPMed
CA402976739 rs1568395046	993	A>V		No	ClinGen Ensembl
CA402976758 rs1225418259	995	E>G		No	ClinGen gnomAD
CA9031027 rs749432056	995	E>K		No	ClinGen ExAC TOPMed
rs1464282100 CA402976769	996	R>Q		No	ClinGen gnomAD
rs768703505 CA402976789	998	R>C		No	ClinGen ExAC gnomAD
CA402976791 rs1337768337	998	R>H		No	ClinGen TOPMed gnomAD
CA9031028 rs768703505	998	R>S		No	ClinGen ExAC gnomAD
CA402976815 rs1270276370	1000	A>V		No	ClinGen gnomAD
CA402976822 rs1186903511	1001	L>V		No	ClinGen gnomAD
CA9031030 rs761685025	1002	V>L		No	ClinGen ExAC TOPMed gnomAD
rs557021822 CA402976843	1003	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA9031033 rs557021822	1003	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA9031031 rs538688866	1003	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753526630 CA9031035	1004	R>C		No	ClinGen ExAC TOPMed gnomAD
rs903705718 CA303982115	1004	R>H		No	ClinGen TOPMed gnomAD
rs753526630 CA402976845	1004	R>S		No	ClinGen ExAC TOPMed gnomAD
rs764686181 CA9031037	1005	G>C		No	ClinGen ExAC gnomAD
rs752203804 CA9031038	1005	G>D		No	ClinGen ExAC gnomAD
CA9031041 rs10401245	1006	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed
rs1444221669 CA402976870 CA402976871	1006	Q>H		No	ClinGen gnomAD
CA402976860 rs10401245	1006	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed
CA402976872 rs1288891770	1007	L>I		No	ClinGen gnomAD
rs1321646791 CA402976896	1009	A>V		No	ClinGen TOPMed
rs756460571 CA303982124	1012	G>A		No	ClinGen ExAC TOPMed gnomAD
CA9031043 rs756460571	1012	G>E		No	ClinGen ExAC TOPMed gnomAD
CA402976927 rs1324475348	1012	G>R		No	ClinGen gnomAD
CA402976950 rs1254086494	1014	S>C		No	ClinGen gnomAD
rs1439648991 CA402976953	1014	S>N		No	ClinGen gnomAD
CA303982126 rs958381140	1015	A>S		No	ClinGen Ensembl
CA402976981 rs1182696787	1016	R>C		No	ClinGen gnomAD
CA9031045 rs542713078	1016	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9031044 rs542713078	1016	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs950464387 CA303982130	1017	H>Q		No	ClinGen TOPMed
rs1471919657 CA402977037	1018	R>Q		No	ClinGen gnomAD
TCGA novel	1019	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748196670 CA9031048	1020	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9031047 rs191196970	1020	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773196134 CA402977088	1021	R>C		No	ClinGen ExAC gnomAD
CA9031051 rs760603856	1021	R>H		No	ClinGen ExAC TOPMed gnomAD
rs760603856 CA402977092	1021	R>L		No	ClinGen ExAC TOPMed gnomAD
CA402977096 rs760603856	1021	R>P		No	ClinGen ExAC TOPMed gnomAD
CA9031050 rs773196134	1021	R>S		No	ClinGen ExAC gnomAD
rs776461994 CA9031053	1022	L>F		No	ClinGen ExAC gnomAD
CA402977156 rs1407943641	1024	Q>H		No	ClinGen TOPMed gnomAD
rs764888684 CA9031055	1025	A>D		No	ClinGen ExAC gnomAD
rs764888684 CA402977171	1025	A>G		No	ClinGen ExAC gnomAD
rs759286588 CA402977164	1025	A>P		No	ClinGen ExAC gnomAD
CA9031054 rs759286588	1025	A>S		No	ClinGen ExAC gnomAD
CA402977160 rs759286588	1025	A>T		No	ClinGen ExAC gnomAD
rs764888684 CA9031056	1025	A>V		No	ClinGen ExAC gnomAD
CA9031057 rs762521662	1026	R>T		No	ClinGen ExAC gnomAD
rs767970672 CA402977203	1027	A>E		No	ClinGen ExAC TOPMed gnomAD
rs767970672 CA9031058	1027	A>V		No	ClinGen ExAC TOPMed gnomAD
rs573396231 CA9031061	1028	A>G		No	ClinGen 1000Genomes ExAC gnomAD
rs750911103 CA9031060	1028	A>T		No	ClinGen ExAC TOPMed
CA9031063 rs780430082	1030	A>T		No	ClinGen ExAC gnomAD
CA402977325 rs1382611991	1034	P>S		No	ClinGen gnomAD
CA402977344 rs1381612734	1035	H>Y		No	ClinGen TOPMed gnomAD
CA402977354 rs1369434454	1036	S>T		No	ClinGen gnomAD
CA9031064 rs754149331	1036	S>Y		No	ClinGen ExAC gnomAD
CA402977379 rs1304892015	1037	G>D		No	ClinGen gnomAD
CA9031067 rs540917137	1038	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA303982162 rs540917137	1038	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772179586 CA402977409	1039	P>A		No	ClinGen ExAC gnomAD
rs10401454 CA9031070	1039	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs10401454 CA402977414	1039	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs10401454 CA9031069	1039	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772179586 CA9031068	1039	P>T		No	ClinGen ExAC gnomAD
rs1225297384 CA402977432	1040	G>E		No	ClinGen TOPMed gnomAD
rs1340145754 CA402977428	1040	G>R		No	ClinGen TOPMed gnomAD
rs1225297384 CA402977434	1040	G>V		No	ClinGen TOPMed gnomAD
CA402977423 rs1340145754	1040	G>W		No	ClinGen TOPMed gnomAD
CA402977449 rs1488461855	1041	S>I		No	ClinGen gnomAD
rs1264322213 CA402977464	1042	Q>*		No	ClinGen gnomAD
CA402977472 rs1448329814	1042	Q>R		No	ClinGen gnomAD
CA303982172 rs754118985	1043	E>D		No	ClinGen Ensembl
rs776582713 CA402977503	1044	E>G		No	ClinGen ExAC TOPMed gnomAD
rs776582713 CA9031072	1044	E>R		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with O60391

2 regional properties for O60391

Type	Name	Position	InterPro Accession
binding_site	PPM-type phosphatase, divalent cation binding	52 - 60	IPR000222
domain	PPM-type phosphatase-like domain	13 - 298	IPR001932

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Multi-pass membrane protein Postsynaptic cell membrane	Requires the presence of GRIN1 to be targeted at the plasma membrane
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
anchoring junction	A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
neuronal cell body	The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
NMDA selective glutamate receptor complex	An assembly of four or five subunits which form a structure with an extracellular N-terminus and a large loop that together form the ligand binding domain. The C-terminus is intracellular. The ionotropic glutamate receptor complex itself acts as a ligand gated ion channel; on binding glutamate, charged ions pass through a channel in the center of the receptor complex. NMDA receptors are composed of assemblies of NR1 subunits (Figure 3) and NR2 subunits, which can be one of four separate gene products (NR2A-D). Expression of both subunits are required to form functional channels. The glutamate binding domain is formed at the junction of NR1 and NR2 subunits. NMDA receptors are permeable to calcium ions as well as being permeable to other ions. Thus NMDA receptor activation leads to a calcium influx into the post-synaptic cells, a signal thought to be crucial for the induction of NMDA-receptor dependent LTP and LTD.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
postsynaptic membrane	A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane.

8 GO annotations of molecular function

Name	Definition
calcium channel activity	Enables the facilitated diffusion of a calcium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism.
cation channel activity	Enables the energy-independent passage of cations across a lipid bilayer down a concentration gradient.
glycine binding	Binding to glycine, aminoethanoic acid.
ionotropic glutamate receptor activity	Catalysis of the transmembrane transfer of an ion by a channel that opens when glutamate has been bound by the channel complex or one of its constituent parts.
ligand-gated ion channel activity	Enables the transmembrane transfer of an ion by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts.
neurotransmitter binding	Binding to a neurotransmitter, any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell.
neurotransmitter receptor activity	Combining with a neurotransmitter and transmitting the signal to initiate a change in cell activity.
signaling receptor activity	Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response.

3 GO annotations of biological process

Name	Definition
ionotropic glutamate receptor signaling pathway	The series of molecular signals initiated by glutamate binding to a glutamate receptor on the surface of the target cell, followed by the movement of ions through a channel in the receptor complex, and ending with the regulation of a downstream cellular process, e.g. transcription.
protein insertion into membrane	The process that results in the incorporation of a protein into a biological membrane. Incorporation in this context means having some part or covalently attached group that is inserted into the the hydrophobic region of one or both bilayers.
regulation of calcium ion transport	Any process that modulates the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.

11 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q12879	GRIN2A	Glutamate receptor ionotropic, NMDA 2A	Homo sapiens (Human)	PR
Q91ZU9	Grin3b	Glutamate receptor ionotropic, NMDA 3B	Mus musculus (Mouse)	PR
Q8VHN2	Grin3b	Glutamate receptor ionotropic, NMDA 3B	Rattus norvegicus (Rat)	PR
Q9C8E7	GLR3.3	Glutamate receptor 3.3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SHV2	GLR2.3	Glutamate receptor 2.3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SHV1	GLR2.2	Glutamate receptor 2.2	Arabidopsis thaliana (Mouse-ear cress)	PR
O81078	GLR2.9	Glutamate receptor 2.9	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SDQ4	GLR3.7	Glutamate receptor 3.7	Arabidopsis thaliana (Mouse-ear cress)	PR
Q84W41	GLR3.6	Glutamate receptor 3.6	Arabidopsis thaliana (Mouse-ear cress)	PR
O81776	GLR2.4	Glutamate receptor 2.4	Arabidopsis thaliana (Mouse-ear cress)	PR
O04660	GLR2.1	Glutamate receptor 2.1	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MEFVRALWLG	LALALGPGSA	GGHPQPCGVL	ARLGGSVRLG	ALLPRAPLAR	ARARAALARA
70	80	90	100	110	120
ALAPRLPHNL	SLELVVAAPP	ARDPASLTRG	LCQALVPPGV	AALLAFPEAR	PELLQLHFLA
130	140	150	160	170	180
AATETPVLSL	LRREARAPLG	APNPFHLQLH	WASPLETLLD	VLVAVLQAHA	WEDVGLALCR
190	200	210	220	230	240
TQDPGGLVAL	WTSRAGRPPQ	LVLDLSRRDT	GDAGLRARLA	PMAAPVGGEA	PVPAAVLLGC
250	260	270	280	290	300
DIARARRVLE	AVPPGPHWLL	GTPLPPKALP	TAGLPPGLLA	LGEVARPPLE	AAIHDIVQLV
310	320	330	340	350	360
ARALGSAAQV	QPKRALLPAP	VNCGDLQPAG	PESPGRFLAR	FLANTSFQGR	TGPVWVTGSS
370	380	390	400	410	420
QVHMSRHFKV	WSLRRDPRGA	PAWATVGSWR	DGQLDLEPGG	ASARPPPPQG	AQVWPKLRVV
430	440	450	460	470	480
TLLEHPFVFA	RDPDEDGQCP	AGQLCLDPGT	NDSATLDALF	AALANGSAPR	ALRKCCYGYC
490	500	510	520	530	540
IDLLERLAED	TPFDFELYLV	GDGKYGALRD	GRWTGLVGDL	LAGRAHMAVT	SFSINSARSQ
550	560	570	580	590	600
VVDFTSPFFS	TSLGIMVRAR	DTASPIGAFM	WPLHWSTWLG	VFAALHLTAL	FLTVYEWRSP
610	620	630	640	650	660
YGLTPRGRNR	STVFSYSSAL	NLCYAILFRR	TVSSKTPKCP	TGRLLMNLWA	IFCLLVLSSY
670	680	690	700	710	720
TANLAAVMVG	DKTFEELSGI	HDPKLHHPAQ	GFRFGTVWES	SAEAYIKKSF	PDMHAHMRRH
730	740	750	760	770	780
SAPTTPRGVA	MLTSDPPKLN	AFIMDKSLLD	YEVSIDADCK	LLTVGKPFAI	EGYGIGLPQN
790	800	810	820	830	840
SPLTSNLSEF	ISRYKSSGFI	DLLHDKWYKM	VPCGKRVFAV	TETLQMSIYH	FAGLFVLLCL
850	860	870	880	890	900
GLGSALLSSL	GEHAFFRLAL	PRIRKGSRLQ	YWLHTSQKIH	RALNTEPPEG	SKEETAEAEP
910	920	930	940	950	960
SGPEVEQQQQ	QQDQPTAPEG	WKRARRAVDK	ERRVRFLLEP	AVVVAPEADA	EAEAAPREGP
970	980	990	1000	1010	1020
VWLCSYGRPP	AARPTGAPQP	GELQELERRI	EVARERLRQA	LVRRGQLLAQ	LGDSARHRPR
1030	1040
RLLQARAAPA	EAPPHSGRPG	SQE