AiPD: Autoinhibited Protein Database

O14939

Gene name	PLD2
Protein name	Phospholipase D2
Names	PLD 2, hPLD2, Choline phosphatase 2, PLD1C, Phosphatidylcholine-hydrolyzing phospholipase D2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5338
EC number	3.1.4.4: Phosphoric diester hydrolases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-60 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-60 (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

7 structures for O14939

Entry ID	Method	Resolution	Chain	Position	Source
6OHM	X-ray	190 A	A/B	294-933	PDB
6OHO	X-ray	200 A	A/B	294-933	PDB
6OHP	X-ray	260 A	A/B/C/D	294-933	PDB
6OHQ	X-ray	269 A	A/B	294-933	PDB
6OHS	X-ray	320 A	A/B/C/D	294-933	PDB
7SVP	X-ray	290 A	A/B/C/D	294-933	PDB
AF-O14939-F1	Predicted				AlphaFoldDB

898 variants for O14939

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1597318172 CA397294205	3	A>T		No	ClinGen Ensembl
rs760367867 CA8311066	3	A>V		No	ClinGen ExAC gnomAD
rs375531613 CA287188221	4	T>I		No	ClinGen ExAC gnomAD
rs375531613 CA8311067	4	T>S		No	ClinGen ExAC gnomAD
rs752145178 CA287188228	5	P>L		No	ClinGen Ensembl
rs1204727232 CA397294228	5	P>S		No	ClinGen TOPMed gnomAD
rs1204727232 CA397294232	5	P>T		No	ClinGen TOPMed gnomAD
CA8311068 rs754281395	7	S>N		No	ClinGen ExAC TOPMed gnomAD
CA397294271 rs1254286946	7	S>R		No	ClinGen TOPMed gnomAD
rs200329558 CA8311070	9	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1218510507 CA397294326	11	T>A		No	ClinGen TOPMed
rs1363631356 CA397294332	11	T>I		No	ClinGen gnomAD
CA397294400 rs1418392499	15	L>R		No	ClinGen gnomAD
rs1197878739 CA397294405	16	D>N		No	ClinGen gnomAD
CA397294430 rs1425146413	17	S>A		No	ClinGen TOPMed gnomAD
CA8311071 rs750921799	17	S>C		No	ClinGen ExAC TOPMed gnomAD
CA8311072 rs750921799	17	S>F		No	ClinGen ExAC TOPMed gnomAD
CA287188301 rs901990677	18	S>N		No	ClinGen TOPMed gnomAD
rs1039597777 CA287188293	18	S>R		No	ClinGen TOPMed
CA8311073 rs780178145	19	Q>H		No	ClinGen ExAC gnomAD
CA8311074 rs139759528	20	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA397294529 rs1404278136	24	S>F		No	ClinGen TOPMed
CA8311076 rs781341198	25	D>N		No	ClinGen ExAC gnomAD
CA8311077 rs749111588	26	E>K		No	ClinGen ExAC gnomAD
CA8311079 rs778869066	29	T>A		No	ClinGen ExAC gnomAD
CA8311080 rs778869066	29	T>S		No	ClinGen ExAC gnomAD
CA8311083 rs775066708	32	E>K		No	ClinGen ExAC gnomAD
TCGA novel	34	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150073459 CA8311085	35	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397294706 rs1250249433	36	P>R		No	ClinGen gnomAD
CA287188616 rs769506048	38	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8311107 rs769506048	38	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs773640188 CA397294794	39	R>W		No	ClinGen ExAC gnomAD
rs763179321 CA8311109	41	H>Q		No	ClinGen ExAC gnomAD
rs974955480 CA287188620	41	H>Y		No	ClinGen Ensembl
CA397294852 rs1219835462	42	P>L		No	ClinGen gnomAD
CA8311112 rs759660201	45	A>T		No	ClinGen ExAC
TCGA novel	46	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397294926 rs1220755203	47	Y>C		No	ClinGen gnomAD
rs145402498 CA397294920	47	Y>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145402498 CA8311113	47	Y>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397294946 rs1259106627	48	E>V		No	ClinGen gnomAD
CA8311114 rs752980957	49	L>P		No	ClinGen ExAC TOPMed gnomAD
CA397294984 rs1219844950	50	Q>R		No	ClinGen gnomAD
CA8311115 rs756329825	51	S>C		No	ClinGen ExAC gnomAD
rs750267339 CA8311117	54	V>M		No	ClinGen ExAC TOPMed gnomAD
CA397295055 rs758100452	55	H>D		No	ClinGen ExAC TOPMed gnomAD
rs780092060 CA8311119	55	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs758100452 CA8311118	55	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA397295083 rs746932791	56	P>L		No	ClinGen ExAC gnomAD
CA8311120 rs746932791	56	P>R		No	ClinGen ExAC gnomAD
CA8311121 rs187259198	58	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs952528617 CA397295134	59	F>L		No	ClinGen TOPMed
rs369078162 CA8311122	60	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA397295147 rs1268937904	60	A>V		No	ClinGen TOPMed
rs1350356576 CA397295160	61	P>R		No	ClinGen gnomAD
CA397295152 rs747603491	61	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8311123 rs747603491	61	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1297633421 CA397295173	62	G>V		No	ClinGen gnomAD
rs556574527 CA8311124	63	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs939322164 CA287188741	64	P>L		No	ClinGen gnomAD
rs939322164 CA397295199	64	P>R		No	ClinGen gnomAD
rs984190820 CA287188748	65	V>F		No	ClinGen TOPMed
rs772699439 CA8311125	66	T>I		No	ClinGen ExAC gnomAD
rs1422791987 CA397295242	67	A>D		No	ClinGen TOPMed
rs749701315 CA8311126	67	A>T		No	ClinGen ExAC gnomAD
rs771175723 CA8311127	69	V>M		No	ClinGen ExAC gnomAD
CA287188792 rs112526737	70	V>L		No	ClinGen Ensembl
CA8311129 rs760028420	72	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1410339561 CA397295323	73	E>K		No	ClinGen TOPMed
TCGA novel	74	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	75	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397295377 rs1421473073	75	Y>C		No	ClinGen TOPMed
rs775555727 CA8311131	76	T>A		No	ClinGen ExAC gnomAD
TCGA novel	76	T>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	77	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1256303540 CA397295410	78	G>R		No	ClinGen TOPMed gnomAD
rs760709119 CA8311132	79	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1183347106	80	K>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA8311149 rs149200635	81	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA397295505 rs1168317171	82	G>E		No	ClinGen TOPMed
rs369688232 CA8311150	84	C>Y		No	ClinGen ESP ExAC gnomAD
CA397295541 rs1567523262	86	L>P		No	ClinGen Ensembl
CA8311151 rs200755009	87	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
CA397295556 rs1241568783	89	V>L		No	ClinGen gnomAD
rs540125550 CA8311152	90	R>C		No	ClinGen ExAC TOPMed gnomAD
rs373143377 COSM1663551 COSM1663550 CA8311153	90	R>H	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA8311154 rs765443043	91	L>*		No	ClinGen ExAC gnomAD
rs1178429456 CA397295584	93	H>D		No	ClinGen TOPMed
CA8311156 rs759364410	93	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA397295597 rs1423936539	94	G>S		No	ClinGen TOPMed
CA8311158 rs752658400	97	S>F		No	ClinGen ExAC gnomAD
rs866397263 CA287188990	99	T>K		No	ClinGen Ensembl
CA8311159 rs755706304	102	K>E		No	ClinGen ExAC
rs147907598 CA8311160	104	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs564771972 CA287189023	105	R>C		No	ClinGen ExAC TOPMed gnomAD
CA397295715 rs1198452343	105	R>H		No	ClinGen TOPMed
CA8311161 rs564771972	105	R>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	108	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	109	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1462011180 CA397295767	109	E>D		No	ClinGen TOPMed
CA397295762 rs1477051053	109	E>G		No	ClinGen gnomAD
CA397295789 rs756870034	112	R>G		No	ClinGen ExAC TOPMed gnomAD
COSM1493936 rs1018879466 COSM1493937 CA287189045	112	R>Q	kidney [Cosmic]	No	ClinGen cosmic curated Ensembl
CA8311162 rs756870034	112	R>W		No	ClinGen ExAC TOPMed gnomAD
rs778484982 CA8311163	113	D>Y		No	ClinGen ExAC gnomAD
rs1567523398 CA397295810	114	L>H		No	ClinGen Ensembl
CA8311165 rs772407427	114	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1307854133 CA397295857	118	K>N		No	ClinGen TOPMed
CA8311168 rs769141526	120	L>S		No	ClinGen ExAC TOPMed gnomAD
rs1322594774 CA397295880	121	M>V		No	ClinGen gnomAD
rs141608832 CA8311170	123	L>V		No	ClinGen ESP ExAC gnomAD
rs1437937539 CA397295915	124	L>F		No	ClinGen gnomAD
rs974671153 CA287189093	125	P>L		No	ClinGen Ensembl
CA397295930 rs1316895002	126	L>V		No	ClinGen gnomAD
rs773535239 CA8311172	127	A>S		No	ClinGen ExAC TOPMed gnomAD
rs773535239 CA397295935	127	A>T		No	ClinGen ExAC TOPMed gnomAD
CA8311173 rs147037301	128	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA8311174 rs147037301	128	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs752746653 CA8311175	128	R>L		No	ClinGen ExAC TOPMed gnomAD
rs752746653 CA397295939	128	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA397296806 rs1360462216	129	F>L		No	ClinGen gnomAD
CA287189742 rs373362915	130	A>G		No	ClinGen ExAC gnomAD
CA8311197 rs373362915	130	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs368398511 CA8311198	131	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs761292236 CA8311199	133	Y>H		No	ClinGen ExAC gnomAD
CA287189766 rs759915138	134	S>P		No	ClinGen TOPMed gnomAD
rs1458319184 COSM707026 CA397296854 COSM707027	136	A>V	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA8311201 rs749871243	137	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8311202 rs758060555	137	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8311203 rs376928267	138	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs751900808 CA8311204	140	G>C		No	ClinGen ExAC TOPMed gnomAD
CA8311205 rs751900808	140	G>S		No	ClinGen ExAC TOPMed gnomAD
CA8311206 rs781597197	141	N>S		No	ClinGen ExAC gnomAD
CA8311207 rs748674984	142	R>G		No	ClinGen ExAC gnomAD
TCGA novel	142	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8311208 rs569703764	144	M>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1486307724 CA397296940	145	P>L		No	ClinGen gnomAD
CA287189795 rs749320592	148	P>H		No	ClinGen ExAC TOPMed gnomAD
CA8311210 rs749320592	148	P>L		No	ClinGen ExAC TOPMed gnomAD
rs778003297 CA8311209	148	P>S		No	ClinGen ExAC TOPMed gnomAD
rs774588654 CA8311212	149	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1384419 COSM1384420 CA8311211 rs141836960	149	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs768487562 CA397296975	150	A>E		No	ClinGen ExAC gnomAD
rs768487562 CA8311214	150	A>V		No	ClinGen ExAC gnomAD
rs1477450842 CA397296982	151	G>C		No	ClinGen TOPMed
TCGA novel	152	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397297011 rs1192406173	154	G>S		No	ClinGen TOPMed
CA287189848 rs978950864	156	T>I		No	ClinGen TOPMed
rs1453048583 CA397297057	158	H>R		No	ClinGen gnomAD
rs367595923 CA397297071	159	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs367595923 CA8311218	159	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA397297087 rs777584661	161	S>I		No	ClinGen ExAC TOPMed gnomAD
CA8311220 rs777584661	161	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1324875950 CA397297095	162	K>Q		No	ClinGen TOPMed
CA397297191 rs1408366424	164	K>E		No	ClinGen gnomAD
rs746077034 CA287189988	165	Y>*		No	ClinGen Ensembl
rs557038351 CA8311249	166	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA8311250 rs764736363	167	E>*		No	ClinGen ExAC gnomAD
rs1412887658 CA397297300	170	L>V		No	ClinGen TOPMed gnomAD
rs1336535887 CA397297326	171	N>K		No	ClinGen gnomAD
CA8311251 rs202012648	171	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
VAR_051704 CA8311252 rs2286672	172	R>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8311253 rs779056522	172	R>H		No	ClinGen ExAC TOPMed gnomAD
rs553684559 CA287190041	176	M>K		No	ClinGen gnomAD
rs138074240 CA8311256	180	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA287190055 rs138074240	180	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8311257 rs199632590	180	R>H	Variant assessed as Somatic; 0.000231 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA287190069 rs546334143	182	Y>C		No	ClinGen Ensembl
CA397297494 rs1178448240	182	Y>D		No	ClinGen TOPMed
rs1338742757 CA397297538	184	A>V		No	ClinGen gnomAD
rs747978116 CA8311258	185	M>T		No	ClinGen ExAC TOPMed gnomAD
rs908889328 CA287190074	185	M>V		No	ClinGen Ensembl
CA397297675 rs1482121239	188	F>C		No	ClinGen TOPMed gnomAD
rs775338108 CA8311283 COSM1679404 COSM1679405	188	F>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA397297730 rs1439059927	192	S>C		No	ClinGen gnomAD
rs892476023 CA287190193	192	S>N		No	ClinGen Ensembl
CA8311285 rs768368204	193	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1402526886 CA397297822	197	I>T		No	ClinGen gnomAD
rs149515162 CA8311286	198	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397297846 rs1358824202	199	D>N		No	ClinGen gnomAD
CA397297877 rs1567524627	201	G>R		No	ClinGen Ensembl
COSM1221001 CA397297890 COSM1221000 rs1446217328	202	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA8311288 rs368249657	202	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs368249657 CA8311289	202	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8311290 rs145989174	203	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA397297900 rs1240138795	203	K>R		No	ClinGen gnomAD
CA397297926 rs1223867657	205	L>P		No	ClinGen gnomAD
CA8311319 rs780103529	206	E>K		No	ClinGen ExAC gnomAD
CA397298005 rs1430265777	207	G>W		No	ClinGen gnomAD
rs754515103 CA8311321	209	I>T		No	ClinGen ExAC TOPMed gnomAD
rs200299754 CA8311323 COSM1640726 COSM1640725	210	R>Q	stomach [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA8311322 COSM2698104 COSM2698103 rs536220000	210	R>W	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs375978258 CA8311324	212	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs375978258 CA397298071	212	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs778011856 CA8311325	212	R>H		No	ClinGen ExAC TOPMed gnomAD
CA8311326 rs749614832	213	S>P		No	ClinGen ExAC gnomAD
CA397298102 rs1216531398	214	G>D		No	ClinGen gnomAD
CA8311328 rs774808753	214	G>R		No	ClinGen ExAC gnomAD
TCGA novel	215	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	216	H>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8311331 rs772123505	216	H>Y	Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8311332 rs572927123	217	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8311333 rs572927123	217	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764330423 CA8311334	217	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs750220547 CA8311335	218	V>I		No	ClinGen ExAC TOPMed gnomAD
rs574038745 CA8311336	220	G>A		No	ClinGen ExAC gnomAD
CA287190461 rs574038745	220	G>D		No	ClinGen ExAC gnomAD
CA397298192 rs1477641486	221	L>F		No	ClinGen gnomAD
rs1191460915 CA397298203	221	L>R		No	ClinGen gnomAD
rs751530331 CA8311338	224	C>F		No	ClinGen ExAC TOPMed gnomAD
rs751530331 CA397298246	224	C>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	225	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397298268 rs1163126995	226	R>*		No	ClinGen gnomAD
CA397298269 rs1163126995	226	R>G		No	ClinGen gnomAD
rs139869509 CA8311339	226	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8311341 rs780574072	227	D>E		No	ClinGen ExAC gnomAD
CA397298283 rs1425957852	227	D>H		No	ClinGen gnomAD
rs754487632 CA287190491	228	Q>E		No	ClinGen Ensembl
rs1180239347 CA397298309	228	Q>P		No	ClinGen TOPMed
rs752191637 CA8311342	229	V>I		No	ClinGen ExAC gnomAD
CA8311343 rs373488861	230	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA8311345 rs749693601	231	Y>F		No	ClinGen ExAC gnomAD
TCGA novel	231	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8311346 rs771259066	232	R>C		No	ClinGen ExAC gnomAD
CA397298394 rs1361542635	232	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA397298404 rs1248225769	233	W>*		No	ClinGen gnomAD
rs1292659568 CA397298411	233	W>*		No	ClinGen gnomAD
CA287190650 rs986580116	239	V>L		No	ClinGen TOPMed gnomAD
CA8311367 rs746185534	240	V>L		No	ClinGen ExAC gnomAD
TCGA novel	242	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA287190673 COSM1221009 COSM1221008 rs945244094	243	S>F	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA287190664 rs913767561	243	S>P		No	ClinGen TOPMed gnomAD
CA397298740 rs1238119587	245	L>V		No	ClinGen gnomAD
rs141585465 CA8311370	246	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA287190691 rs917627229	247	Y>N		No	ClinGen Ensembl
CA8311372 rs777060973	248	M>L		No	ClinGen ExAC gnomAD
CA397298805 rs1173973914	248	M>T		No	ClinGen gnomAD
CA8311373 rs748388055	249	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs970768452 CA287190706	250	L>F		No	ClinGen Ensembl
rs759334308 CA8311376	251	E>A		No	ClinGen ExAC gnomAD
CA8311375 rs758922973	251	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs368961685 CA8311377	256	S>P		No	ClinGen ESP ExAC gnomAD
rs374346852 CA8311378	257	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA397298945 rs374346852	257	F>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA8311379 rs370537823	259	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs370537823 CA287190746	259	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA397298989 rs1238432448	260	L>F		No	ClinGen TOPMed
rs1450896886 CA397299050	263	P>L		No	ClinGen TOPMed
CA397299044 rs1232891924	263	P>S		No	ClinGen TOPMed gnomAD
rs763651895 CA397299083	266	E>*		No	ClinGen ExAC TOPMed gnomAD
CA8311380 rs763651895	266	E>K		No	ClinGen ExAC TOPMed gnomAD
rs753275339 CA8311381	267	V>G		No	ClinGen ExAC gnomAD
TCGA novel	269	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397299140 rs1178409201	270	G>E		No	ClinGen gnomAD
rs377745964 CA8311384 CA8311385	270	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8311387 rs370830303	274	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8311389 rs781436206	275	E>G		No	ClinGen ExAC TOPMed gnomAD
rs748191924 CA8311390	276	A>E		No	ClinGen ExAC gnomAD
rs1473764799 CA397299204	276	A>T		No	ClinGen TOPMed
CA287190821 rs752546625	277	R>P		No	ClinGen TOPMed gnomAD
rs752546625 CA287190815	277	R>Q		No	ClinGen TOPMed gnomAD
CA8311391 rs767086719	277	R>W		No	ClinGen ExAC TOPMed gnomAD
rs745698306 CA397299225	278	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA8311392 RCV000961453 rs139166795	278	H>Y		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA287190843 rs202025358	279	G>D		No	ClinGen 1000Genomes
rs771887423 CA8311394	279	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1263831051 CA397299241	280	V>A		No	ClinGen gnomAD
rs760662418 CA8311396	280	V>M		No	ClinGen ExAC TOPMed gnomAD
CA8311397 rs768519666	281	R>G		No	ClinGen ExAC TOPMed gnomAD
CA287190869 rs763871135	281	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8311398 rs763871135	281	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA397299245 rs768519666	281	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8311401 rs200094300	283	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs200094300 CA8311400	283	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	284	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8311402 rs763293763	284	T>I		No	ClinGen ExAC TOPMed gnomAD
rs763293763 CA397299301	284	T>S		No	ClinGen ExAC TOPMed gnomAD
rs766771900 CA8311403	286	H>N		No	ClinGen ExAC gnomAD
CA397299335 rs1270552855	287	R>G		No	ClinGen gnomAD
CA397299449 rs867028475	288	S>F		No	ClinGen TOPMed
CA287191567 rs867028475	288	S>Y		No	ClinGen TOPMed
CA397299474 rs1317779277	290	I>V		No	ClinGen gnomAD
rs756328314 CA8311425	291	L>R		No	ClinGen ExAC gnomAD
rs1222725773 CA397299504	292	K>*		No	ClinGen gnomAD
CA397299503 rs1222725773	292	K>E		No	ClinGen gnomAD
rs1281652544 CA397299526	293	C>R		No	ClinGen gnomAD
rs142502170 CA8311426	294	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8311427 rs753799641	294	S>N		No	ClinGen ExAC gnomAD
CA287191630 rs193180262	296	Y>C		No	ClinGen 1000Genomes
CA8311429 rs778974047	297	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8311428 rs757519454	297	R>W		No	ClinGen ExAC TOPMed gnomAD
CA397299627 rs1597323174	299	A>G		No	ClinGen Ensembl
TCGA novel	300	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200040841 CA8311434	300	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200040841 CA8311433	300	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA8311432 rs554386438	300	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748710430 CA8311436	301	W>C		No	ClinGen ExAC gnomAD
rs1597323211 CA397299642	301	W>G		No	ClinGen Ensembl
CA397299663 rs1468577453	302	W>*		No	ClinGen gnomAD
rs1597323222 CA397299659	302	W>G		No	ClinGen Ensembl
rs770654939 CA8311437	303	A>V		No	ClinGen ExAC TOPMed gnomAD
rs918577941 CA287191740	304	Q>E		No	ClinGen Ensembl
CA397299695 rs1597323245	304	Q>P		No	ClinGen Ensembl
rs950389389 CA287191745	305	E>G		No	ClinGen Ensembl
CA397299737 rs1440798554	306	I>T		No	ClinGen gnomAD
rs1045974616 CA287191746	310	A>T		No	ClinGen Ensembl
rs1488395426 CA397299808	311	Q>*		No	ClinGen TOPMed
rs760033223 CA8311439	312	G>C		No	ClinGen ExAC TOPMed gnomAD
rs767985940 CA8311440	312	G>D		No	ClinGen ExAC gnomAD
CA397299822 rs760033223	312	G>R		No	ClinGen ExAC TOPMed gnomAD
CA397299821 rs760033223	312	G>S		No	ClinGen ExAC TOPMed gnomAD
rs775929272 CA8311441	313	P>L		No	ClinGen ExAC gnomAD
CA287191795 rs927461981	314	G>S		No	ClinGen gnomAD
rs1285231898 CA397299862	315	R>G		No	ClinGen TOPMed
rs1263645687 CA397299867	315	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA397299914 rs1235228017	317	F>Y		No	ClinGen TOPMed
CA397299944 rs1597323332	318	L>Q		No	ClinGen Ensembl
CA287191801 rs781131946	319	Q>L		No	ClinGen gnomAD
rs781131946 CA397299954	319	Q>P		No	ClinGen gnomAD
CA8311446 rs371796657	321	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA287191810 rs1054893608	321	H>Y		No	ClinGen gnomAD
rs765555533 CA8311448	322	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8311447 rs757264558	322	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1010641235 CA287191847	325	S>N		No	ClinGen gnomAD
CA8311451 rs201456058	327	A>T		No	ClinGen ExAC TOPMed gnomAD
CA397300171 rs1567526507	329	P>L		No	ClinGen Ensembl
CA8311452 rs747892207	329	P>T		No	ClinGen ExAC TOPMed gnomAD
rs774472411 CA8311445	330	R>A		No	ClinGen ExAC gnomAD
TCGA novel	330	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000885845 CA8311454 rs147737574	330	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs752760973 CA287191878	330	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8311455 rs748875349	332	G>E		No	ClinGen ExAC gnomAD
rs1193932160 CA397300285	335	A>V		No	ClinGen TOPMed gnomAD
CA8311457 rs149827932	336	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs745515447 CA8311459	336	R>P		No	ClinGen ExAC TOPMed gnomAD
CA8311458 rs745515447 COSM1221002 COSM1221003	336	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8311456 rs149827932	336	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs762240838 CA8311482	339	V>L		No	ClinGen ExAC gnomAD
rs773315677 CA8311484	342	A>T		No	ClinGen ExAC gnomAD
CA397301789 rs1162368735	343	G>C		No	ClinGen gnomAD
CA397301813 rs1382778789	344	Y>C		No	ClinGen gnomAD
TCGA novel	345	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397301847 rs1294886116	346	A>P		No	ClinGen TOPMed
CA8311487 rs751764553	347	A>T		No	ClinGen ExAC gnomAD
rs1380279496 CA397301869	347	A>V		No	ClinGen gnomAD
CA397301894 rs1227709627	349	A>S		No	ClinGen TOPMed gnomAD
rs1451910421 CA397301899	349	A>V		No	ClinGen gnomAD
CA8311489 rs377694883	351	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA397301923 rs1283901104	351	A>V		No	ClinGen gnomAD
CA397301951 rs1357305913	354	R>*		No	ClinGen TOPMed gnomAD
CA8311490 rs187591759	354	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1266222283 CA397301958	355	A>T		No	ClinGen gnomAD
rs757164436 CA8311491	357	E>G		No	ClinGen ExAC TOPMed gnomAD
rs191478800 CA8311492	358	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8311494 rs757958465	358	E>D		No	ClinGen ExAC gnomAD
rs191478800 CA8311493	358	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141749888 CA287194649	361	I>F		No	ClinGen ESP TOPMed gnomAD
rs141749888 CA397302054	361	I>V		No	ClinGen ESP TOPMed gnomAD
CA8311496 rs746646338	362	T>I		No	ClinGen ExAC TOPMed gnomAD
rs746646338 CA287194662	362	T>R		No	ClinGen ExAC TOPMed gnomAD
CA8311499 rs374089475	363	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs768297268 CA8311497	363	D>H		No	ClinGen ExAC gnomAD
rs770247546 CA8311500	364	W>G		No	ClinGen ExAC gnomAD
COSM1324961 CA8311502 rs200410286 COSM1324962	364	W>L	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs200410286 CA8311501	364	W>S		No	ClinGen 1000Genomes ExAC gnomAD
rs756460341 CA8311518	365	W>*		No	ClinGen ExAC gnomAD
CA8311519 rs778317263	366	L>W		No	ClinGen ExAC gnomAD
CA8311520 rs760975506	370	V>I		No	ClinGen ExAC TOPMed gnomAD
CA8311521 rs555990781	372	L>R		No	ClinGen 1000Genomes ExAC gnomAD
CA8311522 rs200449808	374	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs745921406 CA8311523	374	R>H		No	ClinGen ExAC TOPMed gnomAD
CA8311524 rs772222355	375	P>L		No	ClinGen ExAC gnomAD
CA287194853 rs566398834	379	D>G		No	ClinGen Ensembl
CA8311526 rs376696630	380	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA397302537 rs1159934398	380	D>Y		No	ClinGen TOPMed
CA8311527 rs765129245	381	W>*		No	ClinGen ExAC gnomAD
rs773085003 CA8311528	382	R>G		No	ClinGen ExAC gnomAD
COSM1384431 rs763007494 COSM1384432 CA8311529	385	I>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs766383024 CA8311530	386	M>T		No	ClinGen ExAC gnomAD
CA397302658 rs1597328305	388	K>R		No	ClinGen Ensembl
rs754491188 CA8311532	389	R>S		No	ClinGen ExAC TOPMed gnomAD
rs761911354 CA8311533	391	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs776879666 CA287142115	392	E>K		No	ClinGen Ensembl
CA397253902 rs1132448	393	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372240941 CA8311559	396	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs758774869 CA8311560	396	R>H		No	ClinGen ExAC TOPMed gnomAD
rs780206723 CA8311561	397	V>M		No	ClinGen ExAC gnomAD
CA397253959 rs372533526	399	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8311563 rs372533526	399	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781546553 CA8311564	400	L>V		No	ClinGen ExAC gnomAD
CA8311565 rs200324134	405	V>G		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	406	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1222781974 CA397254155	414	G>S		No	ClinGen gnomAD
rs771852135 CA8311569	414	G>V		No	ClinGen ExAC gnomAD
CA8311571 rs760146633	415	Y>C		No	ClinGen ExAC gnomAD
rs763785091 CA8311572	416	S>R		No	ClinGen ExAC gnomAD
CA397254228 rs1567530328	419	A>S		No	ClinGen Ensembl
CA8311574 rs199737765 COSM1709619 COSM1709620	419	A>V	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs984884885 CA287142158	421	M>L		No	ClinGen Ensembl
CA8311576 rs750705801	424	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA8311577 rs758975991	425	P>L		No	ClinGen ExAC gnomAD
CA8311578 rs780394295	426	N>D		No	ClinGen ExAC TOPMed gnomAD
CA397254325 rs143222056	427	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8311579 rs143222056	427	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA397254337 rs1411292269	428	K>N		No	ClinGen TOPMed
CA287142365 rs1000375351	429	V>M		No	ClinGen TOPMed gnomAD
rs763206181 CA8311595	430	M>T		No	ClinGen ExAC TOPMed gnomAD
CA397254392 rs1372011854	431	R>C		No	ClinGen gnomAD
rs766972125 CA8311596	431	R>H		No	ClinGen ExAC TOPMed gnomAD
rs767715673 CA8311599	432	H>Q		No	ClinGen ExAC gnomAD
CA8311598 rs755478411	432	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA397254426 rs1024279823	434	D>G		No	ClinGen TOPMed gnomAD
CA287142374 rs1024279823	434	D>V		No	ClinGen TOPMed gnomAD
CA8311601 rs375121292	435	Q>R		No	ClinGen ESP ExAC gnomAD
rs1272652914 CA397254439	436	V>G		No	ClinGen gnomAD
CA8311602 rs777822488	437	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs866688405 CA287142388	439	W>*		No	ClinGen Ensembl
rs1268471840 CA397254456	439	W>G		No	ClinGen gnomAD
TCGA novel	444	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs982623254 CA287142399	445	L>F		No	ClinGen TOPMed gnomAD
rs1247780174 CA397254508	446	L>P		No	ClinGen gnomAD
CA8311605 rs201836893	447	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1429848677 CA397254519	448	V>A		No	ClinGen gnomAD
CA287142436 rs909817173	450	Q>R		No	ClinGen TOPMed
rs1227964445 CA397254540	451	V>A		No	ClinGen gnomAD
CA397254570 rs1361007320	456	G>E		No	ClinGen TOPMed
rs1428470904 CA397254567	456	G>R		No	ClinGen gnomAD
rs753325116	457	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
COSM302941 rs772730141 CA8311612 COSM302940	457	G>R	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs763445487 CA397254584	459	D>H		No	ClinGen ExAC gnomAD
CA8311613 rs763445487	459	D>N		No	ClinGen ExAC gnomAD
rs774802157 CA8311615	462	Y>C		No	ClinGen ExAC gnomAD
rs774802157 CA397254606	462	Y>F		No	ClinGen ExAC gnomAD
rs768094593 CA8311617	463	G>V		No	ClinGen ExAC gnomAD
CA8311618 rs558449929	464	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs756122541 CA8311619	464	R>H		No	ClinGen ExAC TOPMed gnomAD
CA397254614 rs558449929	464	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1005961415 CA287142486	465	W>*		No	ClinGen Ensembl
rs752087731 CA287142490 COSM170800	471	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs752087731 CA397254663	471	R>G		No	ClinGen TOPMed gnomAD
CA8311620 rs148063814	471	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA397254666 rs1449505657	472	L>M		No	ClinGen gnomAD
CA397254670 rs1182494064	472	L>R		No	ClinGen gnomAD
CA8311621 rs754000794	473	T>A		No	ClinGen ExAC gnomAD
rs1597330097 CA397254693	476	G>E		No	ClinGen Ensembl
CA397254696 rs1163484127	477	D>N		No	ClinGen gnomAD
rs757433748 CA8311622	478	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1398760316 CA397254715	480	E>K		No	ClinGen gnomAD
rs986962482 CA287142507	481	S>*		No	ClinGen TOPMed gnomAD
CA8311623 rs779836681	481	S>T		No	ClinGen ExAC gnomAD
rs1314530934 CA397254742	484	S>F		No	ClinGen gnomAD
CA8311647 rs752583572	487	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1597331163 CA397254773	488	T>P		No	ClinGen Ensembl
rs200699572 CA8311648	489	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8311649 rs200699572	489	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397254781 rs1597331170	489	P>S		No	ClinGen Ensembl
CA8311651 RCV000882875 rs115426183	490	R>C		No	ClinGen ClinVar 1000Genomes ESP TOPMed dbSNP gnomAD
CA8311652 rs115426183	490	R>G		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs770743350 CA8311655	490	R>H		No	ClinGen ExAC TOPMed gnomAD
CA8311654 rs770743350	490	R>L		No	ClinGen ExAC TOPMed gnomAD
rs770743350 CA397254784	490	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1038418088 CA287142921	492	D>E		No	ClinGen TOPMed
CA8311656 rs746289087	494	P>L		No	ClinGen ExAC gnomAD
rs772558988 CA8311657	495	A>T		No	ClinGen ExAC
CA8311658 rs775854559	496	T>I		No	ClinGen ExAC gnomAD
CA8311661 rs776616081	497	P>L		No	ClinGen ExAC TOPMed gnomAD
rs769157537 CA8311660	497	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	498	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1483471069 CA397254848	498	D>V		No	ClinGen TOPMed
CA397254872 rs1257466875	500	S>C		No	ClinGen TOPMed
CA397254895 rs1308187669	502	N>S		No	ClinGen Ensembl
CA8311665 rs750641014	503	Q>*		No	ClinGen ExAC gnomAD
CA8311664 rs750641014	503	Q>E		No	ClinGen ExAC gnomAD
rs767232237 CA287142933	503	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA8311667 rs370414862	504	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA397254928 rs1386594037	505	F>S		No	ClinGen gnomAD
rs1241734438 CA397254924	505	F>V		No	ClinGen TOPMed
rs1299781375 CA397254942	506	W>L		No	ClinGen TOPMed gnomAD
rs756034025 CA8311668	509	K>E		No	ClinGen ExAC gnomAD
rs777730807 CA8311669	510	D>N		No	ClinGen ExAC TOPMed gnomAD
CA397254984 rs1452864558	510	D>V		No	ClinGen TOPMed
rs753445128 CA8311670	511	Y>H		No	ClinGen ExAC gnomAD
rs1206788823 CA397255004	512	S>N		No	ClinGen gnomAD
rs756812285 CA8311671	513	N>S		No	ClinGen ExAC gnomAD
CA397255024 rs1597331408	514	L>F		No	ClinGen Ensembl
CA397255028 rs1490114704	514	L>P		No	ClinGen gnomAD
rs778772977 CA8311672	515	I>V		No	ClinGen ExAC gnomAD
CA287142964 rs906218184	517	K>M		No	ClinGen Ensembl
rs1049651462 CA287142966	519	W>*		No	ClinGen TOPMed
CA397255106 rs1597331432	520	V>G		No	ClinGen Ensembl
CA8311674 rs370458918	521	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA397255132 rs1160943336	522	L>R		No	ClinGen TOPMed
rs769092786 CA8311677	524	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1563765 CA8311676 COSM1563766 rs747369203	524	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs145073180 CA8311678	525	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8311680 rs769869285	527	E>K		No	ClinGen ExAC TOPMed gnomAD
rs760450833 CA8311705	530	I>M		No	ClinGen ExAC gnomAD
rs774617150 CA397255324	530	I>N		No	ClinGen ExAC gnomAD
rs774617150 CA8311704	530	I>T		No	ClinGen ExAC gnomAD
CA8311706 rs763953120	531	D>V		No	ClinGen ExAC gnomAD
rs776508601 CA8311707	532	R>T		No	ClinGen ExAC gnomAD
CA8311708 rs375708016	534	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs751230743 CA8311713	537	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs368875671 CA8311712	537	R>W		No	ClinGen ExAC TOPMed gnomAD
CA397255531 rs1358021090	538	M>I		No	ClinGen gnomAD
rs1321819957 CA397255512	538	M>L		No	ClinGen gnomAD
CA8311714 rs754532456	540	W>R		No	ClinGen ExAC TOPMed gnomAD
CA8311715 rs551249099	541	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1304189593 CA397255592	541	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs375128256 CA8311716	542	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs756658452 CA8311717	543	V>A		No	ClinGen ExAC gnomAD
CA397255638 rs1286300046	543	V>I		No	ClinGen gnomAD
rs1286300046 CA397255642	543	V>L		No	ClinGen gnomAD
CA397255665 rs778227448	544	G>E		No	ClinGen ExAC gnomAD
CA8311718 rs778227448	544	G>V		No	ClinGen ExAC gnomAD
rs1597331947 CA397255681	545	V>G		No	ClinGen Ensembl
TCGA novel	545	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397255674 rs1208880003	545	V>M		No	ClinGen TOPMed
CA397255715 rs1486157435	547	V>D		No	ClinGen gnomAD
rs138719274 CA8311722	547	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA8311723 rs772134492	548	H>P		No	ClinGen ExAC TOPMed gnomAD
CA287143233 rs772134492	548	H>R		No	ClinGen ExAC TOPMed gnomAD
CA8311724 rs776598770	549	G>S		No	ClinGen ExAC gnomAD
CA397255757 rs1473787450	550	L>P		No	ClinGen gnomAD
rs372741803 CA8311726	551	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000896044 CA8311728 rs146224113	553	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs386352350 CA232215 RCV000122502	553	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
TCGA novel	554	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397255823 rs1305813158	556	A>T		No	ClinGen gnomAD
CA8311731 rs759266914	557	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs750987484 CA8311730	557	R>W		No	ClinGen ExAC gnomAD
CA397255926 rs1329528932	561	Q>*		No	ClinGen TOPMed
CA397255941 rs1342850053	561	Q>H		No	ClinGen gnomAD
CA8311733 rs376037007	562	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs189140524 CA287143301	562	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs189140524 CA8311734	562	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397255974 rs1597332090	563	W>L		No	ClinGen Ensembl
rs1348699157 CA397255967	563	W>R		No	ClinGen gnomAD
CA8311736 rs754372361	566	T>I		No	ClinGen ExAC gnomAD
TCGA novel	567	K>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8311755 RCV000915240 rs137971062	569	T>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs137971062 CA287143376	569	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8311756 rs750564597	570	K>R		No	ClinGen ExAC gnomAD
rs758547868 CA287143379	571	A>S		No	ClinGen ExAC gnomAD
rs758547868 CA8311757	571	A>T		No	ClinGen ExAC gnomAD
rs1391643105 CA397256206	572	K>E		No	ClinGen gnomAD
rs1172910737 CA397256211	572	K>R		No	ClinGen TOPMed
TCGA novel	574	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1162274532 CA397256270	575	T>S		No	ClinGen gnomAD
rs1052748 VAR_051705 CA8311759	577	T>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs768952415 CA397256331	578	Y>*		No	ClinGen ExAC gnomAD
rs1387757287 CA397256341	579	P>S		No	ClinGen TOPMed gnomAD
rs1387757287 CA397256335	579	P>T		No	ClinGen TOPMed gnomAD
rs761106088 CA8311762	580	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA397256360 rs1597332343	580	Y>F		No	ClinGen Ensembl
rs1228505655 CA397256440	585	S>F		No	ClinGen gnomAD
rs745444968 CA397256455	586	T>I		No	ClinGen ExAC TOPMed gnomAD
rs745444968 CA8311765	586	T>N		No	ClinGen ExAC TOPMed gnomAD
rs923882372 CA287143428	587	S>G		No	ClinGen Ensembl
CA8311766 rs763604161	588	T>M		No	ClinGen ExAC TOPMed gnomAD
rs200620430 CA8311768	590	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	595	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763695132 CA8311769	596	L>I		No	ClinGen ExAC gnomAD
CA397256635 rs777092300	597	P>A		No	ClinGen ExAC TOPMed gnomAD
rs777092300 CA8311772	597	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8311771 rs777092300	597	P>T		No	ClinGen ExAC TOPMed gnomAD
rs750899742 CA8311776	598	G>A		No	ClinGen ExAC gnomAD
CA8311775 rs750899742	598	G>E		No	ClinGen ExAC gnomAD
rs368012043 CA8311774	598	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8311777 rs766590486	599	G>R		No	ClinGen ExAC TOPMed gnomAD
CA287143528 rs912532579	600	Q>H		No	ClinGen TOPMed gnomAD
TCGA novel	601	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371269918 CA8311780	604	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755100012 CA8311799	607	L>F		No	ClinGen ExAC TOPMed gnomAD
CA8311800 rs767851614	608	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs752863403 CA8311801	608	R>P		No	ClinGen ExAC gnomAD
CA8311802 COSM1221004 rs752863403 COSM1221005	608	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
COSM980730 CA8311803 rs778592024 COSM980728	612	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA8311804 rs199707726	612	R>H		No	ClinGen ExAC TOPMed gnomAD
CA397257768 rs199707726	612	R>P		No	ClinGen ExAC TOPMed gnomAD
CA8311806 rs779943149	613	W>S		No	ClinGen ExAC TOPMed gnomAD
CA397257799 rs200658185	614	S>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200658185 CA8311807	614	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA287144259 rs1007462854	617	T>S		No	ClinGen TOPMed
rs780695338 CA8311809	623	L>V		No	ClinGen ExAC gnomAD
CA397257890 rs1173214241	624	N>D		No	ClinGen gnomAD
rs374865981 CA8311810	624	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA397257896 rs1597333927	625	A>T		No	ClinGen Ensembl
CA397257905 rs1386765019	626	Y>C		No	ClinGen gnomAD
CA8311811 rs769449979	626	Y>H		No	ClinGen ExAC gnomAD
rs773753942 CA8311812	628	H>P		No	ClinGen ExAC gnomAD
rs369422714 CA8311813	629	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA397257926 rs1234331625	630	I>L		No	ClinGen gnomAD
rs17854914 CA397257944	632	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8311814 rs17854914 VAR_061750	632	E>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs376931060 CA8311815	635	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8311816 rs760016668	637	L>H		No	ClinGen ExAC gnomAD
CA287144334 rs868382399	638	Y>C		No	ClinGen Ensembl
TCGA novel	638	Y>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8311817 rs148798513	639	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1031105679 CA287144363	640	E>A		No	ClinGen TOPMed
CA397258023 rs1377923401	642	Q>K		No	ClinGen gnomAD
rs1294975227 CA397258037	643	F>L		No	ClinGen gnomAD
CA8311845 rs754910484	643	F>V		No	ClinGen ExAC gnomAD
rs1335223322 CA397258047	645	I>V		No	ClinGen TOPMed gnomAD
CA287144598 rs942926409	646	S>I		No	ClinGen TOPMed
rs1227762436 CA397258073	648	S>L		No	ClinGen gnomAD
CA8311848 rs374092359	651	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs201516383 CA8311847	651	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1026647695 CA287144616	652	T>M		No	ClinGen TOPMed gnomAD
rs777349144 CA397258103	654	L>V		No	ClinGen ExAC TOPMed gnomAD
CA397258119 rs1182135202	656	K>R		No	ClinGen gnomAD
rs748966619 CA397258132	658	G>D		No	ClinGen ExAC gnomAD
rs748966619 CA8311850	658	G>V		No	ClinGen ExAC gnomAD
CA397258136 rs1358068992	659	D>N		No	ClinGen TOPMed gnomAD
rs1371548660 CA397258154	661	I>T		No	ClinGen TOPMed
rs1464286166 CA397258171	664	R>G		No	ClinGen gnomAD
rs1314310218 CA397258188	666	L>P		No	ClinGen gnomAD
CA397258204 rs1286403162	669	H>N		No	ClinGen TOPMed gnomAD
CA397258208 rs1377774400	669	H>R		No	ClinGen TOPMed
CA397258232 rs1484711531	671	Q>*		No	ClinGen TOPMed
CA397258233 rs1484711531	671	Q>E		No	ClinGen TOPMed
CA397258236 rs1234344761	671	Q>R		No	ClinGen TOPMed
rs375305590 CA287144885	672	G>E		No	ClinGen ESP TOPMed gnomAD
rs764094836 CA8311886 CA397258241	672	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1228011126 CA397258245	673	W>R		No	ClinGen gnomAD
CA397258260 rs1268848107	674	C>W		No	ClinGen TOPMed gnomAD
rs1268607449 CA397258256	674	C>Y		No	ClinGen TOPMed gnomAD
CA8311888 rs761395374	676	R>*		No	ClinGen ExAC TOPMed gnomAD
CA397258269 rs761395374	676	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8311889 rs199553650	676	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8311890 rs199553650	676	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1467474016 CA397258274	677	V>D		No	ClinGen gnomAD
CA8311891 rs757930649	678	Y>H		No	ClinGen ExAC gnomAD
rs780394033 CA8311894	679	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8311893 rs780394033	679	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1190624661 CA397258288	680	L>I		No	ClinGen gnomAD
CA8311896 rs147534454	686	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1165539234 CA397258342	688	E>G		No	ClinGen gnomAD
rs777652802 CA8311898	688	E>K		No	ClinGen ExAC gnomAD
CA8311899 rs749543174	689	G>D		No	ClinGen ExAC gnomAD
rs1395368952 CA397258348	689	G>S		No	ClinGen gnomAD
rs374713210 CA8311900	690	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs374713210 CA397258354	690	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs368220284 CA8311903	691	I>M		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA8311902 rs760527866	691	I>N		No	ClinGen ExAC gnomAD
CA8311905 rs116011301 COSM980736	693	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs116011301 CA8311904	693	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8311908 rs762705867	695	G>S		No	ClinGen ExAC gnomAD
rs751976853 CA8311910	698	S>F		No	ClinGen ExAC TOPMed gnomAD
CA287145002 rs1012776638	698	S>T		No	ClinGen Ensembl
rs755328283 CA8311911	699	I>F		No	ClinGen ExAC gnomAD
rs1255205828 CA397258409	700	Q>E		No	ClinGen TOPMed gnomAD
rs1255205828 CA397258408	700	Q>K		No	ClinGen TOPMed gnomAD
CA8311912 rs781465757	700	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA8311914 rs145037801	704	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	708	R>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397258485 rs1234568256	709	T>N		No	ClinGen gnomAD
CA397258482 rs1597335402	709	T>P		No	ClinGen Ensembl
CA8311940 COSM436799 rs747873909 COSM436798	712	R>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8311941 rs769825363	712	R>H		No	ClinGen ExAC gnomAD
CA287145288 rs773017795	714	E>D		No	ClinGen ExAC TOPMed
rs935533782 CA287145293	715	Y>C		No	ClinGen TOPMed gnomAD
CA287145292 rs922840410	715	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1193019938 CA397258528	716	S>L		No	ClinGen gnomAD
CA397258532 rs1393502950	717	I>F		No	ClinGen TOPMed gnomAD
CA8311946 rs759214673	718	L>P		No	ClinGen ExAC gnomAD
CA8311947 rs537960609	720	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1397763227 CA397258551	720	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs939690396 CA287145328	723	A>T		No	ClinGen Ensembl
CA397258595 rs1414781472	725	M>I		No	ClinGen gnomAD
rs908320553 CA287145679	725	M>R		No	ClinGen Ensembl
rs939742678 CA287145681	727	T>R		No	ClinGen gnomAD
CA397258606 rs1262930482	727	T>S		No	ClinGen gnomAD
CA397258609 rs1205083960	728	A>T		No	ClinGen TOPMed
rs1471909015 CA397258621	729	W>*		No	ClinGen gnomAD
CA8311967 rs527376457	730	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1186461089 CA397258625	730	R>W		No	ClinGen TOPMed gnomAD
rs760311006 CA8311968	731	D>E		No	ClinGen ExAC TOPMed gnomAD
rs78986622 CA287145687	731	D>G		No	ClinGen TOPMed
rs78986622 CA397258632	731	D>V		No	ClinGen TOPMed
rs1157647266 CA397258638	732	Y>C		No	ClinGen gnomAD
CA397258643 rs1342918262	733	I>V		No	ClinGen gnomAD
CA397258661 rs1289057573	735	I>M		No	ClinGen TOPMed gnomAD
rs762259114 CA8311971	737	G>R		No	ClinGen ExAC TOPMed gnomAD
rs201665984 CA8311973	739	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs373174584 CA8311974	739	R>H		No	ClinGen ESP ExAC gnomAD
rs542492436 CA8311977 CA397258699	742	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397258705 rs1286958560	743	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8311978 rs564268102	745	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs745451182 CA8311982	746	G>A		No	ClinGen ExAC gnomAD
CA8311981 rs149773899	746	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs181490187 CA8311983	747	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
COSM707021 COSM707022 CA287145756 rs267604956	748	P>L	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1420315024 CA397258735	748	P>S		No	ClinGen gnomAD
CA397258740 rs1432638859	749	V>A		No	ClinGen gnomAD
COSM980747 COSM980749 CA8311986 rs372926521	749	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs776900946 CA8311987	750	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1441453196 CA397258751	751	E>G		No	ClinGen gnomAD
CA8311989 rs770489894	752	L>F		No	ClinGen ExAC gnomAD
CA397258758 rs1371315097	752	L>H		No	ClinGen gnomAD
rs763495657 CA8311991	753	I>T		No	ClinGen ExAC gnomAD
rs773858039 CA8311990	753	I>V		No	ClinGen ExAC TOPMed gnomAD
CA397258774 rs145678364	755	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1048952213 CA287145824	755	I>T		No	ClinGen TOPMed
rs145678364 CA8311992	755	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201293948 CA8311993	756	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200252642 CA8311994	757	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs767753197 CA8311995	758	K>E		No	ClinGen ExAC TOPMed gnomAD
CA397258812 rs1173483577	761	I>L		No	ClinGen gnomAD
CA8311997 rs568574118	761	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs758285096 CA8312000	762	A>T		No	ClinGen ExAC TOPMed gnomAD
rs965868424 CA287145848	764	D>N		No	ClinGen TOPMed
rs370990081 CA8312005	765	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs746497873 CA8312003	765	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1168261865 CA397258846	766	T>K		No	ClinGen gnomAD
CA8312006 rs747733732	767	V>F		No	ClinGen ExAC gnomAD
CA397258847 rs747733732	767	V>I		No	ClinGen ExAC gnomAD
rs144921882 CA8312007	769	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA397259345 rs1306181145	770	G>A		No	ClinGen gnomAD
CA397259359 rs1235670893	772	A>T		No	ClinGen gnomAD
rs764270038 CA8312034	773	N>D		No	ClinGen ExAC gnomAD
CA287146163 rs781767395	777	R>Q		No	ClinGen TOPMed gnomAD
rs773041470 CA8312035	778	S>N		No	ClinGen ExAC gnomAD
CA397259460 rs1488503228	781	G>R		No	ClinGen gnomAD
CA8312038 rs766020569	782	K>E		No	ClinGen ExAC gnomAD
CA8312039 rs138750784	782	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs767163752 CA8312041	783	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs754822580 CA8312040	783	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs752219225 CA8312043	784	D>N		No	ClinGen ExAC TOPMed gnomAD
rs752219225 CA8312042	784	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs200515904 CA8312044	785	S>N		No	ClinGen ExAC gnomAD
CA8312045 rs749739488	786	E>K		No	ClinGen ExAC gnomAD
CA287146242 rs112972751	788	A>G		No	ClinGen Ensembl
rs779094449 CA8312047	788	A>S		No	ClinGen ExAC TOPMed
rs779094449 CA287146237	788	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
COSM1679407 rs112972751 CA287146243 COSM1679406	788	A>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated Ensembl
rs376639390 CA397259520	789	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8312049 rs376639390	789	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA397259529 rs1397083081	790	L>V		No	ClinGen TOPMed
CA397259544 rs1567535161	791	I>T		No	ClinGen Ensembl
CA397259536 rs1334691671	791	I>V		No	ClinGen gnomAD
CA8312053 rs369879187	792	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA397259614 rs145415599	796	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA8312054 rs145415599	796	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs759554907 CA8312057	799	S>C		No	ClinGen ExAC TOPMed gnomAD
rs767535793 CA8312058	801	M>V		No	ClinGen ExAC gnomAD
rs760254273 CA8312061	802	N>K		No	ClinGen ExAC gnomAD
CA8312059 rs752311082	802	N>S		No	ClinGen ExAC gnomAD
rs374094142 CA8312062	803	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8312064 rs11545163	804	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_051706 CA8312063 rs11545163	804	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1281352160 CA397259705	804	A>V		No	ClinGen TOPMed
CA8312066 rs758953196	806	Y>H		No	ClinGen ExAC gnomAD
VAR_036503	807	Q>E	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
CA8312067 COSM1563764 COSM1563763 rs780527965	807	Q>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1272896307 CA397259745	808	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8312068 rs372635779	808	A>V		No	ClinGen ESP ExAC gnomAD
CA397259770 rs781198740	810	R>K		No	ClinGen ExAC TOPMed gnomAD
CA287146401 rs781198740	810	R>M		No	ClinGen ExAC TOPMed gnomAD
rs781198740 CA8312070	810	R>T		No	ClinGen ExAC TOPMed gnomAD
CA397259781 rs1597336883	811	F>V		No	ClinGen Ensembl
rs1332859782 CA397259791	812	A>T		No	ClinGen gnomAD
CA287146404 rs900617891	812	A>V		No	ClinGen Ensembl
CA397259806 rs1456341600	813	L>F		No	ClinGen gnomAD
CA397259809 rs1376965374	814	S>R		No	ClinGen gnomAD
rs1439764091 CA397259824	815	L>V		No	ClinGen TOPMed gnomAD
rs774247595 CA8312073 RCV000714773	816	R>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs150535605 CA8312072	816	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1369357234 CA397259858	818	H>R		No	ClinGen TOPMed
rs1436071940 CA397259855	818	H>Y		No	ClinGen gnomAD
CA397259872 rs1567535337	819	C>Y		No	ClinGen Ensembl
rs909180329	820	F>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA397259888 rs909180329	820	F>L		No	ClinGen TOPMed gnomAD
rs1240154636 CA397259895	821	G>D		No	ClinGen gnomAD
VAR_051707 rs3764897 CA8312076	821	G>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8312075 VAR_059774 rs3764897	821	G>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1342065807 CA397260437	822	V>L		No	ClinGen TOPMed
CA397260436 rs1342065807	822	V>M		No	ClinGen TOPMed
rs765009791 CA8312098	825	G>R		No	ClinGen ExAC gnomAD
TCGA novel	826	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs188978323 CA8312102	829	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs188978323 CA8312101	829	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA8312100 rs761523318	829	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8312104 rs767893006	830	P>S		No	ClinGen ExAC gnomAD
rs752886381 CA8312105	833	D>E		No	ClinGen ExAC TOPMed gnomAD
CA397260550 rs1485107366	833	D>Y		No	ClinGen gnomAD
COSM980759 CA397260570 COSM980761 rs756151080	835	R>*	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA8312106 rs756151080	835	R>G		No	ClinGen ExAC gnomAD
rs142690419 CA8312108	835	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142690419 CA8312107	835	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780039454 CA8312110	837	P>L		No	ClinGen ExAC gnomAD
rs1322667915 CA397260592	837	P>S		No	ClinGen gnomAD
rs746779353 CA8312111	841	D>N		No	ClinGen ExAC gnomAD
rs1361648558 CA397260642	842	F>L		No	ClinGen gnomAD
rs372253153 CA8312112	845	L>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776430641 CA8312114	846	W>*		No	ClinGen ExAC gnomAD
rs1201181217 CA397260702	847	Q>*		No	ClinGen TOPMed
rs769207467 CA8312116	849	M>T		No	ClinGen ExAC TOPMed gnomAD
rs147544176 CA8312115	849	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8312119 rs765993254	851	E>D		No	ClinGen ExAC TOPMed gnomAD
rs762633745 CA8312118	851	E>G		No	ClinGen ExAC gnomAD
COSM1221006 COSM1221007 CA8312121 rs759886983	854	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8312122 rs767853543	855	N>D		No	ClinGen ExAC gnomAD
rs1239672535 CA397260797	855	N>S		No	ClinGen gnomAD
rs753155727 CA8312123	856	I>N		No	ClinGen ExAC TOPMed gnomAD
CA397260808 rs753155727	856	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1330455316 CA397260818	857	Y>C		No	ClinGen TOPMed gnomAD
CA8312125 rs764114104	858	E>K		No	ClinGen ExAC gnomAD
rs369256776 CA8312149	861	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs752514430 CA8312150	862	R>C		No	ClinGen ExAC TOPMed gnomAD
rs199694422 CA8312151	862	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA397260888 rs1223288547	863	C>G		No	ClinGen gnomAD
CA397260894 rs1247105391	863	C>Y		No	ClinGen gnomAD
rs1323955831 CA397260899	864	L>M		No	ClinGen TOPMed
CA8312153 rs749154436	866	S>C		No	ClinGen ExAC gnomAD
CA8312154 rs374335117	867	N>D		No	ClinGen ESP ExAC gnomAD
CA8312155 rs61170467	867	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1171558514 CA397260938	868	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs745540818 CA8312156	869	T>M		No	ClinGen ExAC gnomAD
rs775771052 CA8312158	870	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8312159 COSM1384440 COSM1384439 rs201356383	870	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA8312160 rs769354818	871	S>F		No	ClinGen ExAC TOPMed gnomAD
CA8312162 rs547370593	873	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8312161 rs200031534	873	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1292193080 CA397260996	874	T>I		No	ClinGen gnomAD
rs765432833 CA8312163	875	L>R		No	ClinGen ExAC gnomAD
rs145569527 CA8312167	876	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM241164 rs145569527 CA8312166	876	R>Q	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs552209045 CA8312165	876	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201865933 CA287149492	878	Y>N		No	ClinGen 1000Genomes
rs763815776 CA8312169	879	V>M		No	ClinGen ExAC TOPMed gnomAD
CA8312171 rs369059895	880	A>P		No	ClinGen ExAC gnomAD
CA287149505 rs369059895	880	A>T		No	ClinGen ExAC gnomAD
rs764977005 CA8312172	881	V>M		No	ClinGen ExAC gnomAD
rs911290748 CA287149547	882	E>G		No	ClinGen Ensembl
CA8312173 rs144315377	883	P>A		No	ClinGen ESP ExAC TOPMed
rs1280358832 CA397261079	883	P>H		No	ClinGen TOPMed gnomAD
CA8312174 rs531506289	885	A>T		No	ClinGen 1000Genomes ExAC TOPMed
rs1003543127 CA287149550	885	A>V		No	ClinGen TOPMed gnomAD
rs201213709 CA8312175	886	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8312176 rs746576632	887	V>I		No	ClinGen ExAC gnomAD
rs1449509331 CA397261121	888	S>C		No	ClinGen TOPMed gnomAD
rs1449509331 CA397261122	888	S>R		No	ClinGen TOPMed gnomAD
rs1401933765 CA397261130	888	S>R		No	ClinGen TOPMed
rs200384556 CA287149577	889	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA8312180 rs748703019	889	P>L		No	ClinGen ExAC TOPMed gnomAD
rs200384556 CA8312179	889	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs200384556 CA8312178	889	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs201183579 CA8312183	890	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8312182 rs201183579	890	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA397261150 rs1253922660	891	L>M		No	ClinGen gnomAD
CA8312185 rs774643645	891	L>W		No	ClinGen ExAC gnomAD
TCGA novel	891	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1597342356 CA397261161	892	A>S		No	ClinGen Ensembl
CA397261171 rs1189792419	893	R>G		No	ClinGen TOPMed gnomAD
CA397261176 rs759703141	893	R>P		No	ClinGen ExAC TOPMed gnomAD
rs759703141 CA8312186	893	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA397261173 rs1189792419	893	R>W		No	ClinGen TOPMed gnomAD
rs1191873548 CA397261187	894	S>Y		No	ClinGen TOPMed gnomAD
CA397261195 rs1157052453	895	E>G		No	ClinGen TOPMed gnomAD
CA397261218 rs757236839	897	T>I		No	ClinGen ExAC TOPMed gnomAD
CA8312189 rs757236839	897	T>N		No	ClinGen ExAC TOPMed gnomAD
CA8312190 rs757236839	897	T>S		No	ClinGen ExAC TOPMed gnomAD
rs2302323 CA8312191	901	G>D		No	ClinGen ExAC gnomAD
CA397261265 rs1173344631	902	H>Y		No	ClinGen TOPMed gnomAD
CA397261300 rs1567538750	905	H>P		No	ClinGen Ensembl
CA397261308 rs1177843309	906	F>I		No	ClinGen TOPMed
CA8312192 CA8312193 rs140617636	906	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754639275 CA8312195	907	P>L		No	ClinGen ExAC TOPMed gnomAD
rs534071621 CA8312196	908	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397261327 rs534071621	908	L>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1334638046 CA397261346	909	K>N		No	ClinGen gnomAD
rs748508834 CA8312197	910	F>L		No	ClinGen ExAC gnomAD
CA8312198 rs370441205	911	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs773773335 CA8312199	913	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1567538824 CA397261385	913	D>V		No	ClinGen Ensembl
rs1347114636 CA397261408	915	S>P		No	ClinGen gnomAD
CA287149687 rs759898324	917	L>P		No	ClinGen Ensembl
CA8312201 rs374916808	918	P>S		No	ClinGen ESP ExAC gnomAD
rs759797063 CA8312203	919	P>L		No	ClinGen ExAC TOPMed gnomAD
CA287149712 rs759797063	919	P>R		No	ClinGen ExAC TOPMed gnomAD
CA397261451 rs1457343703	919	P>T		No	ClinGen gnomAD
rs139550280 CA8312205	921	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs144190836 CA287149735	926	M>L		No	ClinGen ESP TOPMed
CA397261556 rs144190836	926	M>V		No	ClinGen ESP TOPMed
CA8312206 rs761592036	927	I>V		No	ClinGen ExAC gnomAD
CA8312207 rs764878216	928	P>T		No	ClinGen ExAC TOPMed gnomAD
rs61759530 CA8312208	929	L>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397261613 rs1304063987	929	L>V		No	ClinGen TOPMed
rs752760952 CA8312209	930	E>G		No	ClinGen ExAC gnomAD
CA397261647 rs1332956267	931	V>A		No	ClinGen gnomAD
CA8312211 rs756276907	932	W>*		No	ClinGen ExAC TOPMed gnomAD
CA397261670 rs1298988820	932	W>C		No	ClinGen gnomAD
CA397261658 rs1400664704	932	W>R		No	ClinGen gnomAD
CA8312212 rs751008232	933	T>I		No	ClinGen ExAC TOPMed gnomAD
rs751008232 CA397261683	933	T>R		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with O14939

5 regional properties for O14939

Type	Name	Position	InterPro Accession
domain	Phox homology	64 - 195	IPR001683
domain	Phospholipase D/Transphosphatidylase	437 - 464	IPR001736-1
domain	Phospholipase D/Transphosphatidylase	751 - 778	IPR001736-2
domain	Pleckstrin homology domain	203 - 313	IPR001849
domain	Phospholipase D-like domain	627 - 795	IPR025202

Functions

		Description
EC Number	3.1.4.4	Phosphoric diester hydrolases
Subcellular Localization	Cell membrane ; Lipid-anchor
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
presynapse	The part of a synapse that is part of the presynaptic cell.

3 GO annotations of molecular function

Name	Definition
N-acylphosphatidylethanolamine-specific phospholipase D activity	Catalysis of the release of N-acylethanolamine from N-acyl-phosphatidylethanolamine (NAPE) to generate N-acylethanolamine (NAE).
phosphatidylinositol binding	Binding to an inositol-containing glycerophospholipid, i.e. phosphatidylinositol (PtdIns) and its phosphorylated derivatives.
phospholipase D activity	Catalysis of the reaction: a phosphatidylcholine + H2O = choline + a phosphatidate.

8 GO annotations of biological process

Name	Definition
cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures.
Fc-gamma receptor signaling pathway involved in phagocytosis	An Fc-gamma receptor signaling pathway that contributes to the endocytic engulfment of external particulate material by phagocytes.
inositol lipid-mediated signaling	The series of molecular signals in which a cell uses an inositol-containing lipid to convert a signal into a response. Inositol lipids include the phosphoinositides (phosphatidylinositol and its phosphorylated derivatives), ceramides containing inositol, and inositol glycolipids.
phosphatidic acid biosynthetic process	The chemical reactions and pathways resulting in the formation of phosphatidic acid, any derivative of glycerol phosphate in which both the remaining hydroxyl groups of the glycerol moiety are esterified with fatty acids.
phospholipid catabolic process	The chemical reactions and pathways resulting in the breakdown of phospholipids, any lipid containing phosphoric acid as a mono- or diester.
regulation of vesicle-mediated transport	Any process that modulates the rate, frequency, or extent of vesicle-mediated transport, the directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell.
small GTPase mediated signal transduction	The series of molecular signals in which a small monomeric GTPase relays a signal.
synaptic vesicle recycling	The trafficking of synaptic vesicles from the pre-synaptic membrane so the vesicle can dock and prime for another round of exocytosis and neurotransmitter release. Recycling occurs after synaptic vesicle exocytosis, and is necessary to replenish presynaptic vesicle pools, sustain transmitter release and preserve the structural integrity of the presynaptic membrane. Recycling can occur following transient fusion with the presynaptic membrane (kiss and run), or via endocytosis of presynaptic membrane.

10 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q0V8L6	PLD2	Phospholipase D2	Bos taurus (Bovine)	PR
Q13393	PLD1	Phospholipase D1	Homo sapiens (Human)	PR
Q9Z280	Pld1	Phospholipase D1	Mus musculus (Mouse)	PR
P97813	Pld2	Phospholipase D2	Mus musculus (Mouse)	PR
P70496	Pld1	Phospholipase D1	Rattus norvegicus (Rat)	PR
P70498	Pld2	Phospholipase D2	Rattus norvegicus (Rat)	PR
P58766	PLDALPHA3	Phospholipase D alpha 3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9M9W8	PLPZETA2	Phospholipase D zeta 2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LRZ5	PLDZETA1	Phospholipase D zeta 1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9C5Y0	PLDDELTA	Phospholipase D delta	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MTATPESLFP	TGDELDSSQL	QMESDEVDTL	KEGEDPADRM	HPFLAIYELQ	SLKVHPLVFA
70	80	90	100	110	120
PGVPVTAQVV	GTERYTSGSK	VGTCTLYSVR	LTHGDFSWTT	KKKYRHFQEL	HRDLLRHKVL
130	140	150	160	170	180
MSLLPLARFA	VAYSPARDAG	NREMPSLPRA	GPEGSTRHAA	SKQKYLENYL	NRLLTMSFYR
190	200	210	220	230	240
NYHAMTEFLE	VSQLSFIPDL	GRKGLEGMIR	KRSGGHRVPG	LTCCGRDQVC	YRWSKRWLVV
250	260	270	280	290	300
KDSFLLYMCL	ETGAISFVQL	FDPGFEVQVG	KRSTEARHGV	RIDTSHRSLI	LKCSSYRQAR
310	320	330	340	350	360
WWAQEITELA	QGPGRDFLQL	HRHDSYAPPR	PGTLARWFVN	GAGYFAAVAD	AILRAQEEIF
370	380	390	400	410	420
ITDWWLSPEV	YLKRPAHSDD	WRLDIMLKRK	AEEGVRVSIL	LFKEVELALG	INSGYSKRAL
430	440	450	460	470	480
MLLHPNIKVM	RHPDQVTLWA	HHEKLLVVDQ	VVAFLGGLDL	AYGRWDDLHY	RLTDLGDSSE
490	500	510	520	530	540
SAASQPPTPR	PDSPATPDLS	HNQFFWLGKD	YSNLITKDWV	QLDRPFEDFI	DRETTPRMPW
550	560	570	580	590	600
RDVGVVVHGL	PARDLARHFI	QRWNFTKTTK	AKYKTPTYPY	LLPKSTSTAN	QLPFTLPGGQ
610	620	630	640	650	660
CTTVQVLRSV	DRWSAGTLEN	SILNAYLHTI	RESQHFLYIE	NQFFISCSDG	RTVLNKVGDE
670	680	690	700	710	720
IVDRILKAHK	QGWCYRVYVL	LPLLPGFEGD	ISTGGGNSIQ	AILHFTYRTL	CRGEYSILHR
730	740	750	760	770	780
LKAAMGTAWR	DYISICGLRT	HGELGGHPVS	ELIYIHSKVL	IADDRTVIIG	SANINDRSLL
790	800	810	820	830	840
GKRDSELAVL	IEDTETEPSL	MNGAEYQAGR	FALSLRKHCF	GVILGANTRP	DLDLRDPICD
850	860	870	880	890	900
DFFQLWQDMA	ESNANIYEQI	FRCLPSNATR	SLRTLREYVA	VEPLATVSPP	LARSELTQVQ
910	920	930
GHLVHFPLKF	LEDESLLPPL	GSKEGMIPLE	VWT