AiPD: Autoinhibited Protein Database

Q15700

Gene name	DLG2
Protein name	Disks large homolog 2
Names	Channel-associated protein of synapse-110 , Chapsyn-110 , Postsynaptic density protein PSD-93
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1740
EC number
Protein Class

Descriptions

Dlg2 is a member of the membrane-associated guanylate kinase (MAGUK) family of PDZ domain-containing proteins and regulates surface expression of NMDA receptors. The activity of Dlg2 (GK domain) is autoinhibited by the PDZ domains (PDZ2 and PDZ3). In rat Dlg4 (P31016), SH3 domain also interacts with GK domain for regulation.

Autoinhibitory domains (AIDs)

158-407 (PDZ 2 and 3 domains) SS

Target domain	503-742 (GK domain)
Relief mechanism	Ligand binding, Others
Assay

AID

158-407 (PDZ 2 and 3 domains)

Target domain

503-742 (GK domain)

Relief mechanism

Ligand binding (Physiological ligand binding to SH2 and SH3 domains), Others (SH3 L460P mutation)

Assay

542-598 (SH3 domain) SS

Target domain	503-742 (GK domain)
Relief mechanism	Others
Assay

AID

542-598 (SH3 domain)

Target domain

503-742 (GK domain)

Relief mechanism

Others (SH3 L460P mutation)

Assay

Accessory elements

No accessory elements

References

Brenman JE et al. (1998) "Localization of postsynaptic density-93 to dendritic microtubules and interaction with microtubule-associated protein 1A", The Journal of neuroscience : the official journal of the Society for Neuroscience, 18, 8805-13

McGee AW et al. (1999) "Identification of an intramolecular interaction between the SH3 and guanylate kinase domains of PSD-95", The Journal of biological chemistry, 274, 17431-6

Autoinhibited structure

Activated structure

3 structures for Q15700

Entry ID	Method	Resolution	Chain	Position	Source
2BYG	X-ray	185 A	A	190-283	PDB
2HE2	X-ray	150 A	A/B	418-513	PDB
AF-Q15700-F1	Predicted				AlphaFoldDB

875 variants for Q15700

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs2092836800	3	F>L		No	Ensembl
TCGA novel	8	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2154084937	10	R>W		No	Ensembl
rs1239594356	11	T>P		No	gnomAD
rs1239594356	11	T>S		No	gnomAD
rs763068269	12	N>K		No	ExAC TOPMed gnomAD
TCGA novel	13	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2092835557	13	V>M		No	Ensembl
rs1284485337	14	K>R		No	gnomAD
rs1284485337	14	K>T		No	gnomAD
rs1477309885	15	K>M		No	TOPMed gnomAD
TCGA novel	16	Y>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM932589 COSM1586067	17	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM4677755 COSM4677756 rs150043290	17	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs773627915	18	Y>C		No	ExAC TOPMed gnomAD
rs1190073376	18	Y>H		No	gnomAD
rs1253849529	19	Q>E		No	gnomAD
rs2099351071	19	Q>H		No	TOPMed
TCGA novel	20	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs774693328	23	A>P		No	ExAC TOPMed gnomAD
rs774693328	23	A>T		No	ExAC TOPMed gnomAD
rs2099351054	25	H>D		No	Ensembl
COSM258551	25	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1327288851	26	D>H		No	gnomAD
rs1314109789	27	H>N		No	TOPMed gnomAD
rs2099351042	27	H>R		No	TOPMed
rs1314109789	27	H>Y		No	TOPMed gnomAD
rs1299306547	28	S>F		No	gnomAD
rs2099351040	28	S>T		No	TOPMed
rs745360513	29	L>S		No	ExAC gnomAD
rs1351688207	30	P>R		No	TOPMed gnomAD
rs2099351024	31	R>G		No	Ensembl
rs776496218	31	R>L		No	ExAC TOPMed gnomAD
COSM1357468 COSM1357469 rs776496218	31	R>Q	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1357033145 COSM1171849 COSM1171850	35	E>D	Variant assessed as Somatic; MODERATE impact. oesophagus [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated gnomAD
rs374177340 COSM3454036 COSM3454037	35	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
COSM1586068 COSM932588	36	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs977951388	37	R>G		No	Ensembl
TCGA novel	38	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM3454032 COSM3454033 rs145869624	39	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs145869624	39	P>R		No	gnomAD
rs748157557	39	P>S		No	ExAC gnomAD
TCGA novel	39	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1256617513	42	V>A		No	TOPMed gnomAD
rs755107321	42	V>M		No	ExAC TOPMed gnomAD
rs2099350983	43	H>Q		No	Ensembl
rs2099350986	43	H>R		No	Ensembl
TCGA novel	43	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs753907121	44	V>A		No	ExAC TOPMed gnomAD
rs2099350976	44	V>I		No	TOPMed
rs2099350976	44	V>L		No	TOPMed
rs1254449389	47	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs756338000	48	N>K		No	ExAC gnomAD
rs2099350949	49	L>R		No	Ensembl
COSM6070524 COSM6070525	50	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs917439511	52	I>V		No	TOPMed gnomAD
rs750559267	55	V>I		No	ExAC gnomAD
COSM1146854 COSM691276	56	H>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	56	H>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs767968269	56	H>R		No	ExAC gnomAD
rs1313922806	57	G>R		No	TOPMed gnomAD
rs1398124268	58	Y>F		No	TOPMed gnomAD
rs1269299456	60	L>F		No	TOPMed
rs993091948	61	Q>*		No	gnomAD
rs993091948	61	Q>E		No	gnomAD
rs752169110	61	Q>H		No	ExAC TOPMed gnomAD
rs540147074	61	Q>P		No	1000Genomes
rs2099350880	62	S>C		No	gnomAD
rs148968464	62	S>P		No	Ensembl
rs2154520875	63	H>D		No	Ensembl
rs764697525	63	H>R		No	ExAC gnomAD
COSM1561947 COSM1561948 rs1247938717	64	I>M	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs2099350872	64	I>V		No	Ensembl
rs763489526	65	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1163674244	67	L>P		No	TOPMed
rs1166698962	68	K>Q		No	gnomAD
rs139966293	68	K>R		No	Ensembl
rs145095250	69	A>V		No	TOPMed
rs199924824	70	S>G		No	1000Genomes ExAC gnomAD
COSM1357457 COSM1357458 COSM1357459	70	S>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1331660700	71	P>L		No	TOPMed gnomAD
rs1226023254	71	P>S		No	gnomAD
rs1200209231	72	A>P		No	gnomAD
rs140943254	72	A>V		No	Ensembl
rs2097368542	73	P>H		No	Ensembl
rs2154350676	73	P>T		No	Ensembl
rs749006091	74	I>L		No	ExAC TOPMed gnomAD
rs749006091 COSM4165969 COSM4165968 COSM4165970	74	I>V	kidney [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs1308346740	77	N>S		No	TOPMed gnomAD
rs1308346740	77	N>T		No	TOPMed gnomAD
rs1430679591	78	T>A		No	TOPMed gnomAD
TCGA novel	78	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1461532445	79	D>E		No	gnomAD
rs745652043	79	D>G		No	ExAC gnomAD
rs762631819	80	T>I		No	Ensembl
rs1388515808	80	T>P		No	TOPMed
COSM1357455 COSM1357454 COSM1357456 rs781080266	81	L>S	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs757243832	82	D>G		No	ExAC gnomAD
rs764279004	85	P>A		No	ExAC TOPMed gnomAD
rs2154350644	85	P>L		No	Ensembl
rs764279004	85	P>S		No	ExAC TOPMed gnomAD
COSM4037165 COSM4037163 COSM4037164 COSM4037166	87	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	87	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1258463369	87	V>L		No	Ensembl
rs771812946	88	N>D		No	ExAC
rs748123400	88	N>S		No	ExAC TOPMed gnomAD
rs774249504	89	G>R		No	ExAC TOPMed gnomAD
rs376688328	90	T>I		No	ESP ExAC TOPMed gnomAD
rs780112400	91	E>K		No	ExAC TOPMed gnomAD
rs2095593240	92	I>N		No	Ensembl
rs1403983841	94	Y>C		No	gnomAD
rs1051858296	95	E>K		No	Ensembl
rs1171967854	97	E>G		No	gnomAD
COSM4839813 COSM4839811 COSM4839810 COSM4839812	98	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2095592849	99	I>T		No	TOPMed
rs577048786	99	I>V		No	1000Genomes ExAC gnomAD
rs1204349127	105	N>S		No	TOPMed gnomAD
COSM4037159 COSM4037161 COSM4037162 COSM4037160	105	N>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1357450 COSM1357453 COSM1357452 COSM1357451	106	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1261805594	111	S>G		No	gnomAD
rs747382706	113	A>S		No	ExAC gnomAD
rs140444308	114	G>E		No	Ensembl
rs2154179003	114	G>W		No	1000Genomes
TCGA novel	116	T>D	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM3810556 COSM3810555 COSM3810558 rs143052833 COSM3810557	117	D>N	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed
rs143052833	117	D>Y		No	TOPMed
rs2092139863	118	N>S		No	Ensembl
rs1392138372	119	P>T		No	gnomAD
rs1315190294	122	G>R		No	gnomAD
rs762434193	123	D>G		No	Ensembl
rs938359620	124	D>E		No	Ensembl
COSM1586069 rs2092138062 COSM932585 COSM1586070 COSM1586071	126	G>D	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed gnomAD
rs368067536	127	I>T		No	ESP ExAC gnomAD
rs750100203	127	I>V		No	ExAC gnomAD
rs185455615	128	F>C		No	1000Genomes ExAC TOPMed gnomAD
rs185455615	128	F>Y		No	1000Genomes ExAC TOPMed gnomAD
COSM1203708 rs751367052 COSM1203707 COSM1203705 COSM1203706	130	T>M	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs2092136835	131	K>Q		No	Ensembl
TCGA novel	131	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2092136632	132	I>F		No	TOPMed
rs763825862	134	P>A		No	ExAC gnomAD
COSM5677644 COSM5677642 rs762841674 COSM5677643 COSM5677645	134	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
COSM690433 COSM1146840 COSM1146838 COSM1146839	134	P>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1146845 COSM1146844 COSM1146846 COSM690431	134	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1167692686	136	G>S		No	Ensembl
rs1241285762	139	A>S		No	gnomAD
TCGA novel	139	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2092134925	140	E>A		No	Ensembl
rs2092134735	142	G>S		No	Ensembl
rs769825858	144	L>I		No	ExAC gnomAD
rs1182048027	145	R>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs1262899098	145	R>G		No	gnomAD
rs1204572503	147	N>S		No	gnomAD
COSM1357444 COSM1357445 COSM1357442 COSM1357443	148	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs756922095	149	C>F		No	ExAC gnomAD
rs756922095	149	C>Y		No	ExAC gnomAD
rs775873020	150	I>V		No	Ensembl
rs1224277128	151	L>W		No	gnomAD
rs765224774	152	R>L		No	ExAC TOPMed gnomAD
rs765224774	152	R>Q		No	ExAC TOPMed gnomAD
rs202179915	152	R>W		No	ESP ExAC TOPMed gnomAD
TCGA novel	153	V>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1309244272	154	N>S		No	gnomAD
rs759334756	155	E>D		No	ExAC gnomAD
rs1380155628	155	E>K		No	TOPMed gnomAD
rs1381515254	155	E>V		No	TOPMed gnomAD
rs367575894	156	V>A		No	ESP ExAC TOPMed gnomAD
rs367575894	156	V>D		No	ESP ExAC TOPMed gnomAD
rs2154131104	156	V>F		No	Ensembl
rs2096556151	160	E>G		No	TOPMed
COSM70456	161	V>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1329785466	162	S>F		No	TOPMed gnomAD
rs1383072366	164	S>C		No	TOPMed gnomAD
rs1462551392	164	S>N		No	gnomAD
rs773545055	165	K>T		No	ExAC TOPMed gnomAD
rs146925269 COSM415714 COSM1133371 COSM1133369	166	A>E	urinary_tract [Cosmic]	No	cosmic curated TOPMed gnomAD
rs145536577	166	A>T		No	Ensembl
COSM1203700 COSM1203697 COSM1203699 COSM1203698 rs146925269	166	A>V	large_intestine [Cosmic]	No	cosmic curated TOPMed gnomAD
rs2154131058	172	E>Q		No	Ensembl
rs2096555673	173	A>T		No	Ensembl
rs1270090856	174	G>R		No	TOPMed gnomAD
rs1371587755	175	S>T		No	TOPMed gnomAD
rs2096555542	176	I>F		No	Ensembl
rs769219035	176	I>M		No	ExAC TOPMed gnomAD
rs2096555514	176	I>T		No	TOPMed
COSM4037156 rs749744948 COSM4037155 COSM4037157 COSM4037158	177	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs756739930	178	R>P		No	ExAC TOPMed gnomAD
rs756739930 COSM5432582 COSM287185 COSM5432580 COSM5432581	178	R>Q	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs146095353	178	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs149297358	179	L>M		No	Ensembl
rs1566272416	180	Y>C		No	gnomAD
rs777477574	180	Y>H		No	ExAC TOPMed gnomAD
rs147973724	182	R>C		No	gnomAD
COSM4037150 COSM4037149 COSM4037148 rs150156552 COSM4037147	182	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs147973724	182	R>S		No	gnomAD
rs757922288	184	R>K		No	ExAC gnomAD
COSM1357435 COSM1357437 COSM1357434 COSM1357436 rs1594322843	185	R>*	Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
COSM3870335 COSM3870336 COSM3870334 COSM3870333 rs958099908	185	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl NCI-TCGA
rs532812864	187	I>M		No	1000Genomes ExAC gnomAD
rs1052047327	187	I>V		No	TOPMed gnomAD
rs754999934	189	E>D		No	ExAC TOPMed gnomAD
TCGA novel	189	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs201416435 COSM1203703 COSM1203704 COSM271748 COSM1203702	191	V>I	Variant assessed as Somatic; MODERATE impact. oesophagus large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs921878132	192	V>M		No	TOPMed
rs773631287 COSM3454024 COSM3454023 COSM3454022 COSM3454025	193	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1594322294	194	I>M		No	Ensembl
rs1477730705	195	K>E		No	TOPMed gnomAD
rs1477730705	195	K>Q		No	TOPMed gnomAD
rs1030798155	195	K>R		No	TOPMed gnomAD
rs1377356370	196	L>V		No	gnomAD
rs376007461	197	F>L		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM1586074 COSM1586072 COSM1586073 COSM932584	199	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel rs2096554520	200	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
TCGA novel rs2096554520	200	P>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs141263127	202	G>S		No	Ensembl
TCGA novel	203	L>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs764502858	204	G>V		No	ExAC TOPMed gnomAD
rs2092694646	208	A>T		No	TOPMed
rs1340363955	208	A>V		No	gnomAD
rs1402796850	210	G>C		No	gnomAD
rs2154173971	210	G>D		No	Ensembl
rs373876621	211	V>M		No	ESP ExAC TOPMed gnomAD
rs201555326	212	G>R		No	1000Genomes ExAC TOPMed gnomAD
TCGA novel	212	G>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs145431228	214	Q>*		No	Ensembl
rs995489298	216	I>V		No	Ensembl
TCGA novel	218	G>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1000809523	218	G>R		No	TOPMed gnomAD
rs747887143	220	N>S		No	ExAC gnomAD
TCGA novel	220	N>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM274794	223	Y>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1262129509	227	I>L		No	gnomAD
rs779933209	228	I>M		No	ExAC gnomAD
rs1360391569	228	I>T		No	TOPMed gnomAD
rs1216194130	228	I>V		No	TOPMed gnomAD
rs775904522	229	D>A		No	ExAC TOPMed gnomAD
rs750287818	229	D>E		No	ExAC
rs775904522	229	D>G		No	ExAC TOPMed gnomAD
rs775904522	229	D>V		No	ExAC TOPMed gnomAD
rs1374718216	230	G>R		No	TOPMed gnomAD
rs1356338666	231	G>R		No	gnomAD
TCGA novel	231	G>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs781371304	232	A>T		No	ExAC gnomAD
rs1433424587	233	A>T		No	gnomAD
rs757272942	234	Q>*		No	ExAC gnomAD
rs1297927302	238	R>W		No	gnomAD
rs1446072060	239	L>M		No	Ensembl
rs751877171	240	Q>E		No	ExAC TOPMed gnomAD
rs764305037	240	Q>L		No	ExAC gnomAD
rs2154173912	244	R>K		No	1000Genomes
rs2154173908	244	R>S		No	1000Genomes
rs765549258	246	L>I		No	ExAC gnomAD
COSM4037145 COSM4037144 COSM4037143 COSM4037142	246	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2092689799	247	M>T		No	TOPMed
rs1474356341	247	M>V		No	gnomAD
rs2089961126	249	N>K		No	Ensembl
rs373325643	249	N>S		No	ESP ExAC TOPMed gnomAD
COSM1152429 COSM1152430 COSM1152431 COSM932583 rs777781126	252	S>G	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs777781126	252	S>R		No	ExAC TOPMed gnomAD
rs2089960288	253	L>F		No	Ensembl
rs758654718	254	E>Q		No	ExAC TOPMed gnomAD
TCGA novel	255	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1565836007	255	E>Q		No	Ensembl
TCGA novel	257	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	258	H>Q	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1233561517	258	H>Y		No	gnomAD
rs1456866351	259	E>D		No	gnomAD
rs2089956973	260	E>V		No	Ensembl
rs2089956217	261	A>T		No	TOPMed
rs879191981	262	V>I		No	Ensembl
TCGA novel	262	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs765642884	264	I>M		No	ExAC TOPMed gnomAD
rs2089953437	268	T>I		No	Ensembl
COSM5373727 COSM5373724 COSM5373726 COSM5373725 COSM5373728	269	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1254102158	270	E>D		No	TOPMed
rs1299579538	270	E>V		No	gnomAD
rs2089951669	271	V>I		No	Ensembl
rs2089951264	273	Y>C		No	Ensembl
rs1455985661	275	K>I		No	TOPMed gnomAD
TCGA novel	275	K>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs754433628	276	V>A		No	ExAC TOPMed gnomAD
rs1218309413	276	V>I		No	gnomAD
TCGA novel	276	V>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2089949441	277	G>D		No	TOPMed gnomAD
rs1189821635	277	G>S		No	TOPMed
rs569113405	279	P>A		No	1000Genomes ExAC gnomAD
rs977199258	279	P>H		No	TOPMed gnomAD
rs977199258	279	P>R		No	TOPMed gnomAD
rs569113405	279	P>S		No	1000Genomes ExAC gnomAD
rs1399546679	280	T>A		No	gnomAD
rs2089947212	280	T>N		No	Ensembl
rs1172884868	282	I>M		No	TOPMed
rs774016845	282	I>T		No	ExAC gnomAD
rs747148833	282	I>V		No	Ensembl
rs1473853552	283	Y>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
TCGA novel	285	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2089944938	285	T>S		No	Ensembl
rs989001752	286	D>V		No	Ensembl
rs2089944160	286	D>Y		No	Ensembl
COSM3454017 COSM3454019 COSM3454018 COSM3454020	287	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2089943002	288	Y>C		No	TOPMed gnomAD
rs1267450357	288	Y>H		No	gnomAD
rs2089942621	289	G>D		No	Ensembl
rs2089941829	290	P>R		No	Ensembl
rs1175044526	290	P>S		No	TOPMed gnomAD
rs2089941464	291	P>S		No	Ensembl
rs2089940751	293	I>V		No	TOPMed gnomAD
rs2154157391	297	Y>C		No	Ensembl
rs2089242801	298	S>C		No	TOPMed
rs2089242801	298	S>Y		No	TOPMed
rs1214035616	299	P>A		No	gnomAD
rs2089241878	300	P>T		No	TOPMed gnomAD
rs764812723	301	M>L		No	ExAC TOPMed gnomAD
rs764812723	301	M>V		No	ExAC TOPMed gnomAD
rs1319922603	302	E>D		No	gnomAD
rs759178685	302	E>G		No	ExAC TOPMed gnomAD
COSM3454013 COSM3454016 COSM3454015 COSM3454014	302	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1282611762	302	E>Q		No	TOPMed gnomAD
TCGA novel	303	N>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs776323320	304	H>N		No	ExAC gnomAD
rs747002599	304	H>Q		No	ExAC gnomAD
rs770732545	304	H>R		No	ExAC TOPMed gnomAD
rs2154157364	305	L>P		No	Ensembl
rs773123028	305	L>V		No	ExAC gnomAD
COSM1586005 COSM932581 COSM1586007 COSM1586006	307	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1303899399	309	N>S		No	TOPMed gnomAD
rs755173300	311	G>D		No	ExAC gnomAD
rs749483521	312	T>N		No	ExAC gnomAD
rs375101968	312	T>S		No	Ensembl
rs2089232257	313	L>I		No	TOPMed
rs2089231798	313	L>S		No	TOPMed gnomAD
rs1429581953	314	E>Q		No	gnomAD
rs770509331	315	Y>C		No	Ensembl
rs1029125570	318	S>F		No	Ensembl
rs1029125570	318	S>Y		No	Ensembl
TCGA novel	321	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs368428456	322	I>V		No	ESP TOPMed gnomAD
rs2089227189	323	S>P		No	TOPMed gnomAD
rs1487789201	324	P>R		No	TOPMed gnomAD
rs1415885023	325	G>R		No	Ensembl
rs145476900	326	R>S		No	1000Genomes ExAC TOPMed gnomAD
rs1487224882	327	Y>H		No	gnomAD
rs536832022	329	P>A		No	1000Genomes ExAC TOPMed gnomAD
COSM3454010 rs2089222123 COSM3454009 COSM3454011 COSM3454012	331	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic TOPMed gnomAD
rs1309151120	332	K>E		No	gnomAD
rs55987930	333	H>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	333	H>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1276123104	333	H>Y		No	gnomAD
TCGA novel	334	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs372628367	334	M>K		No	ESP ExAC TOPMed gnomAD
rs372628367	334	M>R		No	ESP ExAC TOPMed gnomAD
rs766147568	336	V>F		No	ExAC TOPMed gnomAD
rs766147568	336	V>I		No	ExAC TOPMed gnomAD
COSM1146835 COSM1146836 COSM690435 COSM1146837	337	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs146517533	338	D>G		No	TOPMed gnomAD
rs772008941 COSM1135257 COSM467496 COSM1135255 COSM1135256	338	D>N	kidney [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs772008941	338	D>Y		No	ExAC TOPMed gnomAD
rs1285259224	339	D>G		No	TOPMed
rs200073489	339	D>H		No	ExAC TOPMed gnomAD
rs200073489	339	D>N		No	ExAC TOPMed gnomAD
rs768749118	340	Y>C		No	ExAC TOPMed gnomAD
COSM1146834 COSM1146832 COSM1146833 COSM690436	341	T>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs140599607	341	T>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs140599607	341	T>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2089212602	342	R>W		No	Ensembl
rs200484099	343	P>H		No	1000Genomes ExAC TOPMed gnomAD
rs150434913	343	P>T		No	Ensembl
COSM1146831 rs185568966 COSM1146830 COSM690437	344	P>L	lung [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs771403609	344	P>S		No	ExAC TOPMed gnomAD
rs1326969221	346	P>T		No	TOPMed
rs373144686	348	Y>N		No	ESP ExAC TOPMed gnomAD
rs1307121418	349	S>N		No	gnomAD
rs1429388890	350	T>I		No	TOPMed gnomAD
rs753399420	352	N>D		No	ExAC gnomAD
rs2079941590	355	C>S		No	TOPMed gnomAD
rs879220562	356	D>H		No	Ensembl
COSM260438	356	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM6070526 COSM6070528 COSM6070527 COSM6070529	357	K>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2079940448	357	K>R		No	TOPMed gnomAD
rs2079940448	357	K>T		No	TOPMed gnomAD
rs141677387	358	P>A		No	1000Genomes ExAC TOPMed gnomAD
rs1394651274	358	P>L		No	TOPMed gnomAD
rs1394651274	358	P>R		No	TOPMed gnomAD
rs141677387	358	P>S		No	1000Genomes ExAC TOPMed gnomAD
rs767347493	359	A>S		No	ExAC gnomAD
rs1158802044	361	P>S		No	gnomAD
rs761581805	362	R>G		No	ExAC gnomAD
rs751515631	363	H>R		No	ExAC TOPMed gnomAD
rs377716241	364	Y>C		No	ESP ExAC TOPMed gnomAD
rs764096167	364	Y>H		No	ExAC gnomAD
rs377716241	364	Y>S		No	ESP ExAC TOPMed gnomAD
rs1591284084	365	S>F		No	Ensembl
rs181668459	366	P>A		No	1000Genomes ExAC TOPMed gnomAD
rs759888051	366	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs181668459	366	P>S		No	1000Genomes ExAC TOPMed gnomAD
TCGA novel	367	V>C	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2079931842	367	V>F		No	TOPMed gnomAD
rs776983374	368	E>D		No	ExAC TOPMed gnomAD
rs2079930698	368	E>K		No	gnomAD
rs148320541	369	C>Y		No	ExAC gnomAD
COSM5102206 rs577146407 COSM5102205 COSM266381 COSM5460024	370	D>G	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs922036856	371	K>E		No	TOPMed gnomAD
rs2079926342	371	K>N		No	TOPMed
rs1565685918	371	K>R		No	Ensembl
rs1286475369	372	S>I		No	TOPMed gnomAD
rs374587627	374	L>F		No	ESP ExAC TOPMed gnomAD
rs772653394	374	L>H		No	ExAC TOPMed gnomAD
rs772653394	374	L>R		No	ExAC TOPMed gnomAD
rs374587627	374	L>V		No	ESP ExAC TOPMed gnomAD
rs1299146135	375	L>F		No	gnomAD
COSM1298702 COSM1298703 COSM1298704	376	S>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs779576306	377	A>P		No	ExAC TOPMed gnomAD
rs779576306	377	A>S		No	ExAC TOPMed gnomAD
rs779576306	377	A>T		No	ExAC TOPMed gnomAD
rs1344304536	378	P>A		No	TOPMed gnomAD
rs1344304536	378	P>T		No	TOPMed gnomAD
rs958061062	380	S>F		No	gnomAD
rs764218987	381	H>Q		No	Ensembl
rs1415257780	381	H>R		No	gnomAD
TCGA novel	382	Y>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2079918405	382	Y>C		No	gnomAD
rs1161410073	382	Y>H		No	TOPMed gnomAD
rs1289285138	383	H>N		No	Ensembl
rs2154130169	384	L>P		No	Ensembl
TCGA novel	385	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2079913326	388	P>R		No	Ensembl
rs558659632	388	P>S		No	1000Genomes ExAC TOPMed gnomAD
rs780818195	389	D>N		No	ExAC TOPMed gnomAD
TCGA novel	391	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1452269995	393	T>I		No	gnomAD
rs1238812339	395	H>D		No	TOPMed gnomAD
rs1238812339	395	H>Y		No	TOPMed gnomAD
COSM3454005 COSM3454006 COSM3454007 COSM3454008	396	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1005549290	397	Q>H		No	TOPMed gnomAD
rs1456798459	398	H>R		No	gnomAD
rs190715807	401	A>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs190715807	401	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs770325440	402	T>A		No	ExAC TOPMed gnomAD
rs1353826872	403	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1353826872	403	R>G		No	TOPMed gnomAD
rs199599488 COSM4201316 COSM4201317 COSM4201315 COSM4201318	403	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs199599488	403	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1353826872	403	R>S		No	TOPMed gnomAD
COSM6134838 COSM6134839 COSM6134840 COSM6134837 COSM6134841	404	Q>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2064217862	404	Q>P		No	gnomAD
rs771691297	405	P>L		No	ExAC TOPMed gnomAD
COSM1146826 COSM690439 COSM1146825 COSM1146824	407	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs747975067	407	M>V		No	ExAC TOPMed gnomAD
rs2064215741	408	T>I		No	TOPMed
RCV000239217 CA6211597 rs201235627	409	L>P		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1174244081	411	R>L		No	TOPMed gnomAD
rs1174244081	411	R>Q		No	TOPMed gnomAD
rs754993790	411	R>W		No	ExAC TOPMed gnomAD
rs1314782297	412	A>T		No	TOPMed gnomAD
rs373748139	413	V>A		No	ESP ExAC TOPMed gnomAD
rs373748139	413	V>D		No	ESP ExAC TOPMed gnomAD
rs200531656	413	V>F		No	ESP ExAC TOPMed gnomAD
rs200531656	413	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	414	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1160507877	416	E>G		No	gnomAD
rs371943145	417	G>*		No	ESP ExAC TOPMed gnomAD
rs570064705	418	E>D		No	1000Genomes ExAC TOPMed gnomAD
rs762778884	418	E>G		No	Ensembl
rs1438339884	419	P>T		No	TOPMed gnomAD
COSM274793	420	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs139555691	420	R>H		No	ExAC TOPMed gnomAD
rs139555691	420	R>L		No	ExAC TOPMed gnomAD
rs2055258741	421	K>R		No	TOPMed gnomAD
rs1344274025	422	V>I		No	TOPMed gnomAD
TCGA novel	423	V>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs758759070	425	H>N		No	ExAC gnomAD
rs1398329562 TCGA novel	425	H>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	TOPMed gnomAD NCI-TCGA
rs1728781359	425	H>R		No	gnomAD
rs753039977	428	S>P		No	ExAC TOPMed gnomAD
rs760043198	429	T>I		No	ExAC gnomAD
TCGA novel	432	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1348635284	432	G>D		No	gnomAD
rs772632114	435	I>V		No	ExAC TOPMed gnomAD
rs761603404	437	G>S		No	ExAC TOPMed gnomAD
rs567517726	440	D>G		No	TOPMed gnomAD
rs1256339667	441	G>A		No	Ensembl
rs1192414024	443	G>S		No	TOPMed gnomAD
rs376761080	446	V>L		No	ESP TOPMed gnomAD
rs1565260880	448	F>S		No	Ensembl
rs1392372499	449	I>L		No	Ensembl
rs775296170	450	L>M		No	ExAC TOPMed gnomAD
rs2055242110	451	A>P		No	TOPMed
rs2055242110	451	A>S		No	TOPMed
rs2055242110 COSM1357427 COSM5827063 COSM1357429 COSM1357426 COSM1357428	451	A>T	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed
rs1199128896	452	G>S		No	TOPMed gnomAD
rs1319763359	453	G>A		No	gnomAD
rs2055238901	454	P>R		No	gnomAD
rs888845634	454	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs745776652	455	A>G		No	ExAC gnomAD
rs1455991049	458	S>N		No	TOPMed
TCGA novel	459	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1595126762	460	E>K		No	TOPMed
rs150750133	461	L>F		No	ExAC gnomAD
rs150750133	461	L>I		No	ExAC gnomAD
rs1302142185	462	Q>H		No	gnomAD
COSM4037125 COSM4037124 COSM4037123 COSM4037122	464	G>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2055233845	464	G>R		No	TOPMed
TCGA novel	465	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs757315881 COSM1146821 COSM690440 COSM1146822 COSM1146823	466	Q>H	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated ExAC NCI-TCGA TOPMed gnomAD NCI-TCGA Cosmic
COSM1135252 COSM467495 COSM1135254 COSM1135253	466	Q>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs201826892	466	Q>P		No	Ensembl
rs747301046	468	L>I		No	ExAC TOPMed gnomAD
COSM1152421 COSM1152422 COSM932579 COSM1152420 rs753028868	469	S>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs758561562	469	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
COSM1676340 rs1403282556 COSM1676343 COSM1676342 COSM1676341	470	V>M	prostate [Cosmic]	No	cosmic curated gnomAD
rs145171328	471	N>D		No	Ensembl
COSM6134846 COSM6134844 COSM6134845 COSM6134843 COSM6134842	472	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2040046334	472	G>D		No	TOPMed gnomAD
rs1464194772	473	I>V		No	TOPMed gnomAD
rs138940411	474	D>N		No	Ensembl
rs772315517	475	L>H		No	ExAC gnomAD
TCGA novel	475	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs748374329	476	R>C		No	ExAC TOPMed gnomAD
rs748374329	476	R>G		No	ExAC TOPMed gnomAD
rs372670410	476	R>H		No	ESP ExAC TOPMed gnomAD
rs1378401051	477	G>V		No	gnomAD
rs915016253	478	A>E		No	gnomAD
rs2040042707	478	A>S		No	TOPMed
rs915016253	478	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs2153887770	479	S>F		No	Ensembl
rs148230786	480	H>Y		No	Ensembl
COSM5758822 COSM5758820 rs756630436 COSM5758818 COSM5758821 COSM5758819	481	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1253953779	484	A>T		No	gnomAD
rs763656861	485	A>G		No	ExAC gnomAD
rs2040036279	488	K>N		No	TOPMed
rs1355857446	488	K>R		No	gnomAD
rs2040035853	489	G>A		No	TOPMed
TCGA novel	490	A>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2040034827	490	A>S		No	gnomAD
rs2040034403	491	G>R		No	TOPMed
COSM690441 COSM1146819 COSM1146818 COSM1146820	492	Q>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2040033592	493	T>R		No	Ensembl
rs201665564	495	T>K		No	1000Genomes ExAC TOPMed gnomAD
rs201665564	495	T>M		No	1000Genomes ExAC TOPMed gnomAD
rs760569678	497	I>T		No	ExAC gnomAD
rs1298661532	499	Q>K		No	gnomAD
rs2040029926	501	Q>R		No	Ensembl
rs1358607642	502	P>A		No	TOPMed gnomAD
rs2040028914	502	P>L		No	TOPMed gnomAD
rs1358607642	502	P>S		No	TOPMed gnomAD
rs2040028502	503	E>A		No	gnomAD
rs149941661	506	A>T		No	ExAC TOPMed gnomAD
TCGA novel	507	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1007099959	507	R>G		No	TOPMed gnomAD
rs373846277	507	R>L		No	TOPMed gnomAD
COSM1586009 COSM932578 COSM1586010 rs373846277 COSM1586008	507	R>Q	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs2153460214	510	A>T		No	Ensembl
TCGA novel	510	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2063898200	511	K>E		No	TOPMed
rs2063897320	511	K>N		No	TOPMed
rs1361797908	511	K>R		No	gnomAD
rs2153460199	513	H>N		No	Ensembl
rs764048277	513	H>R		No	ExAC gnomAD
COSM3453998 COSM3454000 COSM3453997 COSM3453999	516	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs746249929	519	M>V		No	ExAC gnomAD
rs143978460	521	N>H		No	TOPMed
rs143978460	521	N>Y		No	TOPMed
rs1435018140	522	H>D		No	gnomAD
rs2153460145	523	S>I		No	1000Genomes
rs1488563403	524	M>K		No	gnomAD
rs148858967	524	M>L		No	1000Genomes ExAC TOPMed gnomAD
rs148858967	524	M>V		No	1000Genomes ExAC TOPMed gnomAD
rs145950290	525	S>R		No	Ensembl
rs2063891505	525	S>T		No	Ensembl
rs747445340	526	S>C		No	ExAC gnomAD
COSM3453994 COSM3453995 COSM3453993 rs747445340 COSM3453996	526	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs754475963	527	G>R		No	ExAC gnomAD
COSM367068 COSM1146816 COSM1146817 COSM1146815	527	G>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	528	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1033010684	529	G>A		No	TOPMed gnomAD
rs964841955	529	G>R		No	Ensembl
COSM3453989 COSM3453992 COSM3453990 COSM5839720 COSM3453991	530	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	532	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1175362333 COSM1357420 COSM1357419 COSM1357418 COSM5827061 COSM1357421	532	R>Q	Variant assessed as Somatic; MODERATE impact. large_intestine haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD
rs2063885626	533	T>I		No	Ensembl
rs146211329	534	N>S		No	gnomAD
COSM1152419 COSM932577 COSM1152418 COSM1152417	537	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs151222966	537	R>H		No	1000Genomes ExAC gnomAD
rs151222966	537	R>L		No	1000Genomes ExAC gnomAD
COSM545277 rs1414599025 COSM6070530 COSM1139914 COSM1139916 COSM1139915	541	V>I	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs752703421	543	A>T		No	ExAC gnomAD
rs1356906260	544	M>V		No	Ensembl
rs752856934	545	F>L		No	ExAC TOPMed gnomAD
rs1307394347	546	D>G		No	gnomAD
rs368184055	546	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs1302623420	547	Y>F		No	TOPMed gnomAD
rs753996788	548	D>N		No	ExAC TOPMed gnomAD
rs2096074781	549	K>E		No	Ensembl
TCGA novel	549	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1396958127	550	S>G		No	TOPMed gnomAD
rs1243831586	551	K>N		No	Ensembl
rs375673388	551	K>R		No	ESP ExAC gnomAD
COSM1146814 COSM690442 COSM1146812 COSM1146813	552	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1435647123	552	D>Y		No	TOPMed
rs2141508656	553	S>N		No	Ensembl
rs147903462	554	G>E		No	TOPMed
rs139438401	556	P>S		No	Ensembl
rs2096074238	557	S>T		No	Ensembl
rs1398977280	561	S>N		No	gnomAD
rs760948364	561	S>R		No	ExAC TOPMed gnomAD
rs2096074041	565	G>R		No	TOPMed
rs1367003803	566	D>E		No	gnomAD
rs1296211671	566	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs2096073933	566	D>V		No	Ensembl
rs1461326052	567	I>F		No	gnomAD
rs773572570	567	I>T		No	ExAC TOPMed gnomAD
rs1461326052	567	I>V		No	gnomAD
rs563165386	569	H>Q		No	1000Genomes ExAC TOPMed gnomAD
rs1175458331	569	H>R		No	gnomAD
rs142603938	570	V>I		No	ExAC TOPMed gnomAD
rs1379761477	571	I>F		No	gnomAD
rs1400944512	572	N>D		No	TOPMed
TCGA novel	573	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs769273680	575	D>H		No	ExAC gnomAD
rs371177505	576	D>H		No	ESP ExAC TOPMed gnomAD
rs371177505	576	D>N		No	ESP ExAC TOPMed gnomAD
rs140519581	577	E>K		No	gnomAD
rs2096073034	578	W>*		No	TOPMed
rs199920884	578	W>R		No	1000Genomes
rs137929204	579	W>*		No	Ensembl
rs137929204	579	W>C		No	Ensembl
COSM932575 COSM1586016 COSM1586015 COSM1586014	580	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1234617533	581	A>G		No	Ensembl
rs2096072885	581	A>P		No	TOPMed
TCGA novel	581	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2096072744	582	R>K		No	TOPMed
TCGA novel	582	R>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs746801554	583	R>K		No	ExAC gnomAD
rs1302742947	583	R>S		No	TOPMed gnomAD
rs777669976	584	V>A		No	ExAC gnomAD
rs2096072376	585	M>I		No	Ensembl
rs1305163116	585	M>T		No	TOPMed gnomAD
rs758447828	585	M>V		No	ExAC gnomAD
rs1565714023	586	L>P		No	Ensembl
rs1402650391	589	D>E		No	gnomAD
rs2096072211	589	D>H		No	gnomAD
rs779189608	590	S>I		No	ExAC gnomAD
TCGA novel	591	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs755005448	591	E>Q		No	ExAC gnomAD
rs544596873	592	E>D		No	1000Genomes ExAC TOPMed gnomAD
rs1158690628	593	M>L		No	gnomAD
rs2096071889	594	G>W		No	Ensembl
rs1592792150	595	V>G		No	Ensembl
rs149247541	595	V>L		No	Ensembl
COSM292741	595	V>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1430639309	597	P>R		No	gnomAD
rs200616044	598	S>G		No	1000Genomes ExAC gnomAD
rs147623675	598	S>R		No	Ensembl
rs1392320455	600	R>M		No	gnomAD
TCGA novel	600	R>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM6070532 COSM6070533 COSM6070534 COSM6070531 COSM6070535	601	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2095787909	602	V>M		No	gnomAD
rs767928407	603	E>A		No	ExAC
rs2095787647	603	E>D		No	TOPMed
rs2095787764	603	E>K		No	TOPMed
COSM1152414 COSM1152415 COSM1152416 COSM932574	606	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1024877961	607	R>C		No	TOPMed gnomAD
rs757614787	607	R>H		No	ExAC gnomAD
COSM3453982 COSM3453983 COSM3453981 COSM3453984 rs751856105	609	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
COSM1135251 rs1485356954 COSM1135250 COSM467494 COSM1135249	610	L>M	kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs2141087968	614	K>N		No	1000Genomes
rs764531136	616	N>H		No	ExAC TOPMed gnomAD
rs143791443	617	A>D		No	Ensembl
rs141945007	617	A>T		No	Ensembl
rs1231171846	619	P>H		No	gnomAD
rs763476064	621	V>A		No	ExAC TOPMed gnomAD
rs1406898145	621	V>M		No	TOPMed gnomAD
rs372841489	622	I>T		No	ESP ExAC TOPMed gnomAD
COSM1586018 COSM1586019 COSM1586017 COSM932573 rs573934462	624	S>L	kidney Variant assessed as Somatic; MODERATE impact. endometrium [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1031025280	625	K>E		No	TOPMed
TCGA novel	626	G>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs199771883	626	G>A		No	1000Genomes ExAC TOPMed gnomAD
rs199771883	626	G>E		No	1000Genomes ExAC TOPMed gnomAD
rs2095786387 TCGA novel	626	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	TOPMed NCI-TCGA
rs767296642	631	K>T		No	ExAC
rs1188456228	632	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs755995222	632	R>H		No	ExAC TOPMed gnomAD
rs1260258162	635	S>G		No	TOPMed gnomAD
COSM6134847 COSM6134849 COSM6134848	635	S>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3870330 COSM3870329 COSM3870331	635	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs774058599	636	F>V		No	ExAC TOPMed gnomAD
rs138255175	638	F>C		No	TOPMed gnomAD
rs138255175	638	F>S		No	TOPMed gnomAD
rs768479110	640	R>*		No	ExAC gnomAD
rs762858195 COSM302057	640	R>Q	Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs1285831871	642	F>L		No	gnomAD
rs2093349004	643	P>L		No	TOPMed
COSM3791991 rs775494668 COSM3791990 COSM3791989	644	F>L	Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC TOPMed gnomAD
rs1203038787	646	K>R		No	gnomAD
rs769551474	647	N>K		No	ExAC gnomAD
rs1372229026	647	N>S		No	gnomAD
rs2093348305	648	K>Q		No	Ensembl
rs149617923	649	E>K		No	Ensembl
rs2093348010	650	Q>E		No	TOPMed gnomAD
rs1268543426 TCGA novel	651	S>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1415821274	651	S>T		No	gnomAD
rs1159882432	652	E>G		No	Ensembl
rs745960472	653	Q>*		No	ExAC gnomAD
rs781208977	654	E>G		No	ExAC gnomAD
COSM2220801 COSM2220802 COSM2220800	654	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	655	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1447303728	655	T>I		No	TOPMed gnomAD
rs1447303728	655	T>N		No	TOPMed gnomAD
rs771181420	657	D>N		No	ExAC gnomAD
rs1399158015	658	P>L		No	gnomAD
rs1445937013	659	E>A		No	gnomAD
rs1591618412	659	E>K		No	Ensembl
COSM1475937 COSM1475936 rs747209072 COSM1475938	660	R>*	Variant assessed as Somatic; HIGH impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed
rs2136640957	661	G>A		No	1000Genomes
TCGA novel	661	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2092218493	663	E>A		No	TOPMed gnomAD
rs762157918	663	E>D		No	ExAC TOPMed gnomAD
rs774712476	664	D>Y		No	ExAC gnomAD
rs2092217279	665	L>I		No	TOPMed
COSM3453976 COSM3453977 COSM3453974 COSM3453975	667	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1054075147	668	S>P		No	TOPMed gnomAD
COSM6070540 COSM6070537 COSM6070538 COSM6070539 COSM6070536	670	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1388390512	670	E>G		No	gnomAD
rs760860526	670	E>K		No	gnomAD
rs1211089494	671	P>L		No	TOPMed
rs139191198	672	V>F		No	Ensembl
rs775949249	674	R>S		No	ExAC gnomAD
COSM3453973 COSM3453970 COSM3453972 COSM3453971	676	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1488230717	676	E>Q		No	TOPMed gnomAD
rs2092047874	679	Y>S		No	TOPMed
rs777007201	680	T>I		No	ExAC TOPMed gnomAD
rs777007201	680	T>S		No	ExAC TOPMed gnomAD
COSM1510235 rs771409477 COSM1510237 COSM1510234 COSM6134850 COSM1510236	681	R>Q	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM1357414 COSM5827060 COSM1357412 COSM1357413 COSM1357411	681	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2092045555	684	I>V		No	TOPMed
rs778352226	685	I>N		No	ExAC gnomAD
COSM932572 COSM1586020 COSM1586021 COSM1586022	686	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	687	G>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2092043912	688	P>S		No	Ensembl
COSM2220788 COSM2220790 COSM2220789 COSM2220787	689	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM74380 rs755861893	692	R>Q	ovary [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs34857356	692	R>W		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1353688175	694	N>S		No	TOPMed gnomAD
rs757214411 COSM3870328 COSM3870325 COSM3870326 COSM3870327	696	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs751722823	699	S>T		No	ExAC gnomAD
rs147867012	700	E>*		No	Ensembl
rs142462314	703	D>N		No	TOPMed gnomAD
rs752963090	706	G>A		No	ExAC gnomAD
COSM1146808 COSM1146806 COSM690444 COSM1146807	710	P>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2091673474	713	T>M		No	gnomAD
COSM3453964 rs1591364143 COSM3453965 COSM3453963 COSM3453962	715	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic gnomAD
COSM932570 COSM1152413 COSM1152412	717	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3870324 rs1362746040 COSM3870323 COSM3870322 COSM3870321	717	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs1339274504	718	D>N		No	TOPMed gnomAD
COSM3764349 COSM3764350 COSM74379 COSM3764351	720	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2091670902	721	V>A		No	Ensembl
rs2091669905	722	D>A		No	Ensembl
COSM6134853 COSM6134855 COSM6134851 COSM6134854 COSM6134852	722	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs550649657	722	D>N		No	1000Genomes gnomAD
rs550649657	722	D>Y		No	1000Genomes gnomAD
rs761225895	724	R>K		No	ExAC gnomAD
rs773707986	725	D>H		No	ExAC TOPMed gnomAD
rs773707986	725	D>N		No	ExAC TOPMed gnomAD
rs767948529	726	Y>S		No	ExAC gnomAD
rs762467320	733	E>K		No	ExAC gnomAD
rs1163995400	738	D>E		No	TOPMed gnomAD
rs2091666335	741	E>K		No	Ensembl
rs374845450	743	K>E		No	ESP ExAC TOPMed gnomAD
rs769362871	743	K>M		No	ExAC gnomAD
rs769362871	743	K>R		No	ExAC gnomAD
rs769362871	743	K>T		No	ExAC gnomAD
rs2091663560	751	N>I		No	Ensembl
rs2136409781	752	D>E		No	Ensembl
COSM1152409 rs1283976760 COSM1152410 COSM932569	752	D>G	endometrium [Cosmic]	No	cosmic curated TOPMed gnomAD
rs746732527	753	N>S		No	ExAC gnomAD
TCGA novel	755	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1489675368	758	S>I		No	gnomAD
rs2091660604	764	F>V		No	Ensembl
rs1308655030	765	V>I		No	TOPMed gnomAD
rs528157226	767	E>G		No	1000Genomes ExAC TOPMed gnomAD
rs368959516	768	R>K		No	ESP ExAC TOPMed gnomAD
rs1449784177	768	R>S		No	Ensembl
rs368959516	768	R>T		No	ESP ExAC TOPMed gnomAD
rs748092244	769	G>S		No	ExAC gnomAD
COSM1357393 COSM5827059 COSM1357394 COSM1357391 COSM1357392	772	C>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	773	I>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs778914902	773	I>V		No	ExAC TOPMed gnomAD
rs368892076	774	L>F		No	ESP ExAC gnomAD
COSM1586026 COSM932568 COSM1586028 COSM1586027	780	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1306114098	781	I>M		No	gnomAD
rs373589966	783	R>G		No	ESP ExAC TOPMed gnomAD
rs2091114424	783	R>Q		No	TOPMed gnomAD
rs373589966 COSM1676334 COSM1676335 COSM1676333 COSM1676336	783	R>W	Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs150415786	784	L>I		No	Ensembl
rs780270545	786	V>I		No	ExAC TOPMed gnomAD
COSM6070541 COSM6070543 COSM6070544 COSM6070545 COSM6070542	787	A>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2091112089	792	I>T		No	TOPMed gnomAD
rs1256411981	792	I>V		No	Ensembl
rs979263538	794	I>T		No	Ensembl
rs1464206590	794	I>V		No	gnomAD
rs1376751805	795	F>V		No	TOPMed gnomAD
rs1189085065	796	I>T		No	TOPMed gnomAD
rs1484400112	796	I>V		No	TOPMed
COSM4037117 COSM4037114 COSM4037116 COSM4037115	797	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs140442923	798	P>L		No	Ensembl
rs2091108435	799	R>G		No	TOPMed
rs1473132739	799	R>T		No	gnomAD
COSM1586030 COSM1586029 COSM1586031 COSM932567	800	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2091107257	802	E>K		No	TOPMed
rs2091106850	803	P>A		No	TOPMed
rs1414744506	804	L>F		No	TOPMed gnomAD
rs1414744506	804	L>V		No	TOPMed gnomAD
rs750821127	805	M>L		No	ExAC gnomAD
rs1256921703	805	M>T		No	gnomAD
rs930307819	806	E>G		No	Ensembl
rs1209581467	807	M>T		No	gnomAD
rs1466460809	808	N>S		No	gnomAD
rs202176997	809	K>Q		No	ExAC TOPMed gnomAD
rs1265976143	810	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs755190531	810	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs1265976143	810	R>S		No	gnomAD
rs1565312126	814	E>G		No	Ensembl
COSM3870318 COSM3870319 COSM3870317 COSM3870320	814	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1450154852	815	Q>E		No	gnomAD
rs2090131606	815	Q>H		No	Ensembl
rs2090131049	816	A>D		No	TOPMed gnomAD
rs2090131049	816	A>V		No	TOPMed gnomAD
rs770044286	819	T>I		No	ExAC
rs1207915421	820	Y>C		No	TOPMed gnomAD
rs868505277 COSM1146803 COSM1146805 COSM690445 COSM1146804	821	D>N	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA
rs2090128189	822	R>*		No	Ensembl
COSM545281 COSM1139902 COSM1139903 COSM6070550 COSM6070547 COSM6070549 rs2090128189 COSM6070548 COSM1139904 COSM6070546	822	R>G	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic Ensembl
rs2090127783	822	R>Q		No	1000Genomes TOPMed
rs373992523	823	A>T		No	ESP ExAC gnomAD
rs781596546	827	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs538084173	828	Q>*		No	Ensembl
rs757638614	828	Q>H		No	ExAC gnomAD
COSM1586033 COSM932566 COSM1586032 COSM1586034	829	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3791988 COSM3791987 COSM3791986 COSM3791985	829	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	830	F>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM4920015 COSM4920014 COSM4920016 COSM4920017	830	F>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1440742541	831	G>E		No	TOPMed gnomAD
COSM1586037 COSM932565 COSM1586036 COSM1586035	832	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1277291918	832	E>D		No	TOPMed gnomAD
rs1352933006	832	E>K		No	Ensembl
rs2090124568	833	Y>C		No	Ensembl
rs971792836	836	A>T		No	Ensembl
rs533405452	837	I>V		No	1000Genomes ExAC TOPMed gnomAD
rs2135950521	839	Q>R		No	Ensembl
COSM5932747 COSM5932745 COSM5932746 COSM5932748 COSM5932749	840	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3453961 COSM3453960 COSM3453958 COSM3453959	840	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1248215784	840	G>V		No	gnomAD
rs1196527566	841	D>H		No	TOPMed gnomAD
rs2135950129	843	L>V		No	Ensembl
rs758988599	844	E>K		No	ExAC gnomAD
rs2089550072	845	D>H		No	gnomAD
rs1252476217	846	I>M		No	gnomAD
rs748647797	848	N>I		No	ExAC gnomAD
rs779774035	848	N>K		No	ExAC gnomAD
rs1273370528	849	Q>E		No	gnomAD
rs1346733748	850	C>S		No	gnomAD
rs900900288	853	V>I		No	TOPMed gnomAD
rs1309180670	854	I>T		No	gnomAD
rs756823416	856	E>K		No	ExAC gnomAD
rs751414769	857	Q>K		No	ExAC gnomAD
rs2135948261	858	S>T		No	Ensembl
rs1427561665	860	P>H		No	TOPMed gnomAD
rs1427561665	860	P>L		No	TOPMed gnomAD
rs2089541124	860	P>T		No	gnomAD
COSM1146800 COSM690446 COSM1146802 COSM1146801	863	W>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1170541406	865	P>A		No	gnomAD
rs1170541406 COSM1586038 COSM1586039 COSM1586040 COSM932564	865	P>S	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
TCGA novel	866	S>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM5373721 COSM3453956 COSM3453955 COSM3453954 rs1406918822 COSM3453957	868	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs373517718	871	L>Q		No	ESP TOPMed gnomAD

No associated diseases with Q15700

10 regional properties for Q15700

Type	Name	Position	InterPro Accession
domain	SH3 domain	536 - 606	IPR001452
domain	PDZ domain	98 - 185	IPR001478-1
domain	PDZ domain	191 - 280	IPR001478-2
domain	PDZ domain	419 - 502	IPR001478-3
domain	Guanylate kinase-like domain	680 - 855	IPR008144
domain	Guanylate kinase/L-type calcium channel beta subunit	679 - 858	IPR008145
domain	Disks large homolog 1-4, PDZ-associated domain	278 - 345	IPR019583
domain	Disks large homologue 1, N-terminal PEST domain	14 - 97	IPR019590
conserved_site	Guanylate kinase, conserved site	712 - 729	IPR020590
domain	Disks Large homologue 2, SH3 domain	534 - 607	IPR035759

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Lipid-anchor Postsynaptic density Synapse Membrane Cell projection, axon Perikaryon	Concentrated in soma and postsynaptic density of a subset of neurons
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

12 GO annotations of cellular component

Name	Definition
adherens junction	A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules.
axon cytoplasm	Any cytoplasm that is part of a axon.
basolateral plasma membrane	The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
juxtaparanode region of axon	A region of an axon near a node of Ranvier that is between the paranode and internode regions.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it.
neuromuscular junction	The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential.
neuron projection	A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
perikaryon	The portion of the cell soma (neuronal cell body) that excludes the nucleus.
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 density	An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components.
postsynaptic density membrane	The membrane component of the postsynaptic density. This is the region of the postsynaptic membrane in which the population of neurotransmitter receptors involved in synaptic transmission are concentrated.

2 GO annotations of molecular function

Name	Definition
guanylate kinase activity	Catalysis of the reaction
kinase binding	Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group.

9 GO annotations of biological process

Name	Definition
anterograde axonal protein transport	The directed movement of proteins along microtubules from the cell body toward the cell periphery in nerve cell axons.
cell-cell adhesion	The attachment of one cell to another cell via adhesion molecules.
cellular response to potassium ion	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a potassium ion stimulus.
chemical synaptic transmission	The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse.
embryo development	The process whose specific outcome is the progression of an embryo from its formation until the end of its embryonic life stage. The end of the embryonic stage is organism-specific. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant.
establishment or maintenance of epithelial cell apical/basal polarity	Any cellular process that results in the specification, formation or maintenance of the apicobasal polarity of an epithelial cell.
receptor clustering	The receptor metabolic process that results in grouping of a set of receptors at a cellular location, often to amplify the sensitivity of a signaling response.
receptor localization to synapse	Any process in which a receptor is transported to, and/or maintained at the synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell.
retrograde axonal protein transport	The directed movement of proteins along microtubules from the cell periphery toward the cell body in nerve cell axons.

21 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P31007	dlg1	Disks large 1 tumor suppressor protein	Drosophila melanogaster (Fruit fly)	EV
Q9BXL7	CARD11	Caspase recruitment domain-containing protein 11	Homo sapiens (Human)	EV
Q92796	DLG3	Disks large homolog 3	Homo sapiens (Human)	SS
Q12959	DLG1	Disks large homolog 1	Homo sapiens (Human)	SS
P78352	DLG4	Disks large homolog 4	Homo sapiens (Human)	SS
Q96NW7	LRRC7	Leucine-rich repeat-containing protein 7	Homo sapiens (Human)	PR
Q62108	Dlg4	Disks large homolog 4	Mus musculus (Mouse)	SS
Q8CIS0	Card11	Caspase recruitment domain-containing protein 11	Mus musculus (Mouse)	SS
Q99KF0	Card14	Caspase recruitment domain-containing protein 14	Mus musculus (Mouse)	PR
P70175	Dlg3	Disks large homolog 3	Mus musculus (Mouse)	SS
Q811D0	Dlg1	Disks large homolog 1	Mus musculus (Mouse)	SS
Q91XM9	Dlg2	Disks large homolog 2	Mus musculus (Mouse)	SS
Q62696	Dlg1	Disks large homolog 1	Rattus norvegicus (Rat)	SS
P31016	Dlg4	Disks large homolog 4	Rattus norvegicus (Rat)	SS
Q62936	Dlg3	Disks large homolog 3	Rattus norvegicus (Rat)	SS
Q63622	Dlg2	Disks large homolog 2	Rattus norvegicus (Rat)	EV
G5ECY0	dlg-1	Disks large homolog 1	Caenorhabditis elegans	SS
Q28C55	dlg1	Disks large homolog 1	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	SS
Q6R005	dlg4	Disks large homolog 4	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q5PYH5	dlg1l	Discs large homolog 1-like protein	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q5PYH7	dlg2	Disks large homolog 2	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MFFACYCALR	TNVKKYRYQD	EDAPHDHSLP	RLTHEVRGPE	LVHVSEKNLS	QIENVHGYVL
70	80	90	100	110	120
QSHISPLKAS	PAPIIVNTDT	LDTIPYVNGT	EIEYEFEEIT	LERGNSGLGF	SIAGGTDNPH
130	140	150	160	170	180
IGDDPGIFIT	KIIPGGAAAE	DGRLRVNDCI	LRVNEVDVSE	VSHSKAVEAL	KEAGSIVRLY
190	200	210	220	230	240
VRRRRPILET	VVEIKLFKGP	KGLGFSIAGG	VGNQHIPGDN	SIYVTKIIDG	GAAQKDGRLQ
250	260	270	280	290	300
VGDRLLMVNN	YSLEEVTHEE	AVAILKNTSE	VVYLKVGKPT	TIYMTDPYGP	PDITHSYSPP
310	320	330	340	350	360
MENHLLSGNN	GTLEYKTSLP	PISPGRYSPI	PKHMLVDDDY	TRPPEPVYST	VNKLCDKPAS
370	380	390	400	410	420
PRHYSPVECD	KSFLLSAPYS	HYHLGLLPDS	EMTSHSQHST	ATRQPSMTLQ	RAVSLEGEPR
430	440	450	460	470	480
KVVLHKGSTG	LGFNIVGGED	GEGIFVSFIL	AGGPADLSGE	LQRGDQILSV	NGIDLRGASH
490	500	510	520	530	540
EQAAAALKGA	GQTVTIIAQY	QPEDYARFEA	KIHDLREQMM	NHSMSSGSGS	LRTNQKRSLY
550	560	570	580	590	600
VRAMFDYDKS	KDSGLPSQGL	SFKYGDILHV	INASDDEWWQ	ARRVMLEGDS	EEMGVIPSKR
610	620	630	640	650	660
RVERKERARL	KTVKFNAKPG	VIDSKGSFND	KRKKSFIFSR	KFPFYKNKEQ	SEQETSDPER
670	680	690	700	710	720
GQEDLILSYE	PVTRQEINYT	RPVIILGPMK	DRINDDLISE	FPDKFGSCVP	HTTRPKRDYE
730	740	750	760	770	780
VDGRDYHFVI	SREQMEKDIQ	EHKFIEAGQY	NDNLYGTSVQ	SVRFVAERGK	HCILDVSGNA
790	800	810	820	830	840
IKRLQVAQLY	PIAIFIKPRS	LEPLMEMNKR	LTEEQAKKTY	DRAIKLEQEF	GEYFTAIVQG
850	860
DTLEDIYNQC	KLVIEEQSGP	FIWIPSKEKL