AiPD: Autoinhibited Protein Database

Q6W3E5

Gene name	GDPD4 (GDE6, UGPQ)
Protein name	Glycerophosphodiester phosphodiesterase domain-containing protein 4
Names	Glycerophosphodiester phosphodiesterase 6, UgpQ
Species	Homo sapiens (Human)
KEGG Pathway	hsa:220032
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

519-623 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

519-623 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

1 structures for Q6W3E5

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q6W3E5-F1	Predicted				AlphaFoldDB

550 variants for Q6W3E5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA382089743 rs1366919707	7	I>L		No	ClinGen TOPMed gnomAD
CA382089737 rs1300698376	7	I>M		No	ClinGen gnomAD
TCGA novel	10	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765463570 CA382089715	11	S>G		No	ClinGen ExAC TOPMed gnomAD
CA6199784 rs759673381	11	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6199785 rs765463570	11	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1172073544 CA382089708	12	E>*		No	ClinGen gnomAD
CA382089694 rs766937386	14	F>I		No	ClinGen ExAC TOPMed
CA6199782 rs766937386	14	F>V		No	ClinGen ExAC TOPMed
CA381948681 rs1244388164	18	W>C		No	ClinGen TOPMed
CA224840324 rs979416851	19	V>A		No	ClinGen TOPMed gnomAD
CA224840326 rs952360471	19	V>I		No	ClinGen Ensembl
rs1396965156 CA381948636	20	T>I		No	ClinGen gnomAD
rs1179191011 CA381948650	20	T>P		No	ClinGen gnomAD
rs375519795 CA6199757	24	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA381948570 rs375519795 COSM3703701 COSM3703700	24	T>K	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs375519795 CA6199758	24	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6199755 rs762181015	25	G>R		No	ClinGen ExAC gnomAD
CA224840317 rs1023718576	27	W>C		No	ClinGen TOPMed
CA381948509 rs1282610994	28	F>L		No	ClinGen TOPMed
rs1261255304 CA381948437	31	S>P		No	ClinGen TOPMed gnomAD
rs1028030293 CA224840308	32	I>N		No	ClinGen Ensembl
CA6199754 rs775056485	32	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	33	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1308459541 CA381948320	37	L>S		No	ClinGen gnomAD
rs1179996296 CA381948312	38	A>T		No	ClinGen TOPMed
rs776257320 CA6199751	39	R>S		No	ClinGen ExAC TOPMed gnomAD
rs770746251 CA6199750	41	L>M		No	ClinGen ExAC
CA381948264 rs1303048477	41	L>R		No	ClinGen gnomAD
CA6199749 rs747012694	43	A>V		No	ClinGen ExAC gnomAD
CA381948237 rs1174919590	44	Y>C		No	ClinGen TOPMed gnomAD
rs1014682043 CA224840297	45	S>C		No	ClinGen TOPMed
rs1014682043 CA381948224	45	S>F		No	ClinGen TOPMed
rs202205055 CA6199748	45	S>P		No	ClinGen 1000Genomes ExAC gnomAD
rs747985372 CA6199746	47	L>*		No	ClinGen ExAC gnomAD
TCGA novel	47	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	49	L>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	50	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1203720806 CA381947941	50	L>S		No	ClinGen TOPMed
CA224839359 rs958113918	52	G>A		No	ClinGen Ensembl
CA6199729 rs773242113	52	G>R		No	ClinGen ExAC gnomAD
CA224839352 rs545069722 CA6199728	54	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747932499 CA6199727	55	L>*		No	ClinGen ExAC gnomAD
rs774239751 CA6199726	57	W>*		No	ClinGen ExAC gnomAD
CA381947832 rs1442627702	58	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA6199725 rs768755749	59	R>G		No	ClinGen ExAC gnomAD
CA6199723 rs140021398	63	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA381947743 rs1179950433	64	L>P		No	ClinGen gnomAD
CA224839337 rs905806159	66	L>S		No	ClinGen TOPMed gnomAD
CA381947719 rs1244589781	66	L>V		No	ClinGen gnomAD
CA6199720 rs781629601	67	C>S		No	ClinGen ExAC gnomAD
CA224864483 rs947149581	70	I>M		No	ClinGen TOPMed
rs1323214043 CA381954762	73	L>V		No	ClinGen gnomAD
CA381954748 rs1165975505	75	V>G		No	ClinGen gnomAD
rs907305483 CA224864471	81	I>T		No	ClinGen Ensembl
rs193159718 CA6199699	81	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA224864465 rs374581617	83	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs374581617 CA6199698	83	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	84	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1427579073 CA381954688	85	I>L		No	ClinGen TOPMed
CA381954687 rs1427579073	85	I>V		No	ClinGen TOPMed
rs758745585 CA381954680	86	I>L		No	ClinGen ExAC TOPMed gnomAD
rs758745585 CA6199697	86	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1267541866 CA381954674	87	C>R		No	ClinGen gnomAD
rs753023022 CA6199696	89	F>L		No	ClinGen ExAC gnomAD
rs773691312 CA224864461	89	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs756365708 CA6199695	91	K>E		No	ClinGen ExAC TOPMed gnomAD
CA6199694 rs755869312	91	K>R		No	ClinGen ExAC gnomAD
rs1317613424 CA381954611	95	L>P		No	ClinGen gnomAD
TCGA novel	95	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6199692 rs749945929	96	V>L		No	ClinGen ExAC gnomAD
rs767194302 CA6199691	100	S>A		No	ClinGen ExAC TOPMed gnomAD
CA224864412 rs1004462099	101	M>R		No	ClinGen Ensembl
rs959613617 CA224864415	101	M>V		No	ClinGen TOPMed
CA6199690 rs199788200	102	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1469683130 CA381954551	103	I>M		No	ClinGen gnomAD
CA381954554 rs1352846391	103	I>T		No	ClinGen gnomAD
rs1026389832 CA224864363	103	I>V		No	ClinGen TOPMed gnomAD
CA381954546 rs1278071253	104	F>S		No	ClinGen TOPMed gnomAD
rs1039360602 CA224864354	105	A>G		No	ClinGen Ensembl
CA224864361 rs899726571	105	A>T		No	ClinGen Ensembl
rs748511385 CA6199676	107	Y>D		No	ClinGen ExAC TOPMed gnomAD
CA6199675 rs779485284	107	Y>S		No	ClinGen ExAC gnomAD
CA6199670 rs146103137	108	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA6199672 rs756752584 CA6199673	108	V>L		No	ClinGen ExAC TOPMed gnomAD
rs756752584 CA6199671	108	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1301208425 CA381954522	109	H>Y		No	ClinGen TOPMed
CA6199668 rs375206286	110	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA224864315 rs977103803	111	V>A		No	ClinGen Ensembl
CA6199667 rs752535124	112	S>N		No	ClinGen ExAC TOPMed gnomAD
CA6199665 rs759343431	113	I>T		No	ClinGen ExAC gnomAD
rs201478409 CA6199666	113	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1225456138 CA381954487	115	V>L		No	ClinGen TOPMed
TCGA novel	117	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6199664 rs776789747	117	V>I		No	ClinGen ExAC gnomAD
CA6199663 rs766605561	119	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1591564910 CA381954442	121	W>C		No	ClinGen Ensembl
CA6199662 rs760783918	122	P>A		No	ClinGen ExAC gnomAD
CA381954437 rs1217128860	122	P>H		No	ClinGen gnomAD
rs773201803 CA6199661	123	V>M		No	ClinGen ExAC gnomAD
rs748659400 CA6199660	124	A>G		No	ClinGen ExAC TOPMed gnomAD
CA6199659 rs748659400	124	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6199657 rs367777591	127	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA224864265 rs959010686	128	A>V		No	ClinGen Ensembl
CA381954398 rs1489525523	129	C>R		No	ClinGen TOPMed
rs1489525523 CA381954399	129	C>S		No	ClinGen TOPMed
CA6199656 rs143423593	134	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381954345 rs1422123682	135	R>*		No	ClinGen gnomAD
CA6199635 rs776039225	136	M>T		No	ClinGen ExAC gnomAD
rs770614226 CA6199634	139	Y>*		No	ClinGen ExAC gnomAD
CA224863615 rs1014432443	139	Y>F		No	ClinGen Ensembl
CA6199633 rs746701100	140	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1252068456 CA381954306	140	R>S		No	ClinGen TOPMed
TCGA novel	141	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750117862 CA6199632	143	H>L		No	ClinGen ExAC gnomAD
CA6199631 rs757785207	143	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA6199630 rs747675846	144	S>C		No	ClinGen ExAC gnomAD
CA6199629 rs778797543	146	K>I		No	ClinGen ExAC gnomAD
rs930921354 CA224863567	147	K>Q		No	ClinGen Ensembl
rs757321216	148	R>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1565534482 CA381954254	148	R>T		No	ClinGen Ensembl
rs1224034707 CA381954248	149	L>F		No	ClinGen gnomAD
CA381954246 rs1325132707	149	L>H		No	ClinGen gnomAD
CA381954244 rs1298520718	150	K>Q		No	ClinGen gnomAD
rs112934886 CA6199626	151	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779768844 CA6199625	151	Q>R		No	ClinGen ExAC gnomAD
CA6199623 rs531187242	152	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA6199622 rs767812220	154	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA381954208 rs1170666511	155	I>F		No	ClinGen gnomAD
CA224863555 rs565578867	157	R>K		No	ClinGen 1000Genomes gnomAD
TCGA novel	160	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6199597 rs763140464	161	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA6199598 rs764329686	161	L>V		No	ClinGen ExAC TOPMed
rs111528463 CA6199596	162	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200926517 CA6199595	163	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381953957 rs1342637068	165	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1342637068 CA381953961	165	V>L		No	ClinGen TOPMed gnomAD
CA381953911 rs1161194141	168	P>L		No	ClinGen TOPMed
rs1386913023 CA381953900	169	F>V		No	ClinGen TOPMed
TCGA novel	170	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1704414 CA6199591 rs771704708	173	L>F	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs774648141 CA224863041	174	L>V		No	ClinGen Ensembl
CA6199590 rs761508312	175	G>D		No	ClinGen ExAC gnomAD
rs774004001 CA6199589	177	Y>H		No	ClinGen ExAC gnomAD
CA6199588 rs573751380	177	Y>S		No	ClinGen 1000Genomes ExAC gnomAD
rs748826662 CA6199587	178	L>F		No	ClinGen ExAC TOPMed gnomAD
rs966259294 CA224863002	183	I>F		No	ClinGen TOPMed
rs866115482 CA224863001	184	Y>D		No	ClinGen TOPMed
rs866115482 CA224863000	184	Y>H		No	ClinGen TOPMed
COSM1704413 CA224862997 rs866983831	185	S>F	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA6199585 rs769819089	186	P>L		No	ClinGen ExAC TOPMed gnomAD
CA6199584 rs745620337	187	C>Y		No	ClinGen ExAC gnomAD
rs1010175382 CA224862986	188	I>L		No	ClinGen TOPMed gnomAD
rs1322785024 CA381953738	188	I>S		No	ClinGen TOPMed
TCGA novel	190	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381953726 rs1244726108	190	E>Q		No	ClinGen TOPMed
rs893167861 CA224862982	191	K>R		No	ClinGen TOPMed gnomAD
TCGA novel	192	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6199582 rs757541625 COSM1718941	192	E>K	Variant assessed as Somatic; 0.0 impact. NS [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed
rs757541625 CA6199583	192	E>Q		No	ClinGen ExAC TOPMed
rs747172238 CA6199581	193	N>D		No	ClinGen ExAC TOPMed gnomAD
rs778149172 CA6199580	193	N>S		No	ClinGen ExAC gnomAD
CA381953700 rs1217289122	194	L>M		No	ClinGen Ensembl
CA381953686 rs1264016549	196	P>R		No	ClinGen gnomAD
CA6199579 rs758515411 COSM1704412	196	P>S	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
COSM690593 CA224862979 rs758515411	196	P>T	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA6199576 rs755571919	200	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs765626381 CA6199577	200	I>V		No	ClinGen ExAC TOPMed gnomAD
rs202124229 COSM1208082 CA6199575	202	G>E	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA6199574 rs766670617	204	R>G		No	ClinGen ExAC gnomAD
CA381953624 rs1304040487	206	A>T		No	ClinGen gnomAD
rs773951482 CA6199572	207	P>L		No	ClinGen ExAC TOPMed gnomAD
CA6199573 COSM932165 rs761030013	207	P>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA381953607 rs1177388738	208	M>I		No	ClinGen TOPMed gnomAD
rs1489203872 CA381953610	208	M>R		No	ClinGen TOPMed
rs1245923357 CA381953568	213	N>H		No	ClinGen TOPMed
rs922359069 CA224862733	214	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA381953553 rs1342875100	215	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1168510033 CA381953540 COSM1322148	216	M>I	ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA6199548 rs764748345	216	M>K		No	ClinGen ExAC gnomAD
rs1450237225 CA381953545	216	M>V		No	ClinGen TOPMed
rs1305577221 CA381953538	217	S>P		No	ClinGen gnomAD
TCGA novel	217	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6199546 rs776658270	218	F>L		No	ClinGen ExAC TOPMed gnomAD
rs2729772 CA6199545 VAR_055872	220	K>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6199544 rs746765284	222	V>I		No	ClinGen ExAC TOPMed gnomAD
rs773203343 CA6199543	223	E>A		No	ClinGen ExAC gnomAD
rs1336021161 CA381953488	224	H>R		No	ClinGen gnomAD
rs1433814117 CA381953490	224	H>Y		No	ClinGen TOPMed
rs772183342 CA224862708	226	A>S		No	ClinGen ExAC TOPMed gnomAD
CA6199542 rs772183342	226	A>T		No	ClinGen ExAC TOPMed gnomAD
rs748337814 CA6199541	227	H>P		No	ClinGen ExAC gnomAD
CA6199540 rs779019107	227	H>Q		No	ClinGen ExAC gnomAD
rs143383034 CA6199538	233	I>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6199537 rs143383034	233	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	234	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs564499929 CA224862692	234	H>R		No	ClinGen 1000Genomes
CA381953426 rs1177179230	234	H>Y		No	ClinGen gnomAD
rs183523243 CA6199515	237	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA381952367 rs1163854133	238	D>Y		No	ClinGen TOPMed
CA381952333 rs1392005701	240	V>M		No	ClinGen TOPMed
CA6199514 rs116099947	241	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381952288 rs1162191835	243	L>V		No	ClinGen gnomAD
rs1565527559 CA381952271	244	M>V		No	ClinGen Ensembl
rs770280041 CA381952255	245	H>P		No	ClinGen ExAC TOPMed gnomAD
rs770280041 CA6199513	245	H>R		No	ClinGen ExAC TOPMed gnomAD
CA224858525 rs980681983	246	D>E		No	ClinGen Ensembl
CA224858522 rs138651466	248	D>G		No	ClinGen ESP TOPMed gnomAD
CA381952095 rs1430050196	255	I>T		No	ClinGen TOPMed
CA6199512 rs746306300	256	G>R		No	ClinGen ExAC gnomAD
rs757589974 CA6199510	257	E>K		No	ClinGen ExAC gnomAD
CA381952057 rs1357843102	257	E>V		No	ClinGen TOPMed
CA6199509 rs751898495	260	P>Q		No	ClinGen ExAC gnomAD
rs1591553343 CA381952015	260	P>S		No	ClinGen Ensembl
rs1180666702 CA381951998	261	E>K		No	ClinGen Ensembl
CA6199508 rs778592601	262	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1443517794 CA381951970	263	A>S		No	ClinGen gnomAD
TCGA novel	263	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381951956 rs1234434762	264	C>S		No	ClinGen TOPMed
rs753398151 CA6199506	265	E>K		No	ClinGen ExAC TOPMed gnomAD
COSM932164 rs1385264869 CA381951915	268	A>V	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1167383424 CA381951903	269	F>S		No	ClinGen gnomAD
CA381951856 rs1413709959	271	N>K		No	ClinGen gnomAD
rs760278523 CA6199504	271	N>S		No	ClinGen ExAC gnomAD
CA381951799 rs1284476471	274	F>S		No	ClinGen TOPMed
rs1261092545 CA381951773	276	S>A		No	ClinGen gnomAD
rs186975278 COSM3810470 COSM3810471 CA6199502	276	S>L	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs186975278 CA224858493	276	S>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1320817316 CA381951731	279	N>H		No	ClinGen gnomAD
CA6199499 rs768910308	280	A>G		No	ClinGen ExAC gnomAD
rs763228399 CA6199498	281	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1277058019 CA381951686	282	K>I		No	ClinGen TOPMed gnomAD
rs142086334 CA224858472	283	W>R		No	ClinGen ESP TOPMed
rs1223546108 CA381951647	284	F>Y		No	ClinGen gnomAD
CA6199497 rs775692591	286	K>E		No	ClinGen ExAC gnomAD
CA224858468 rs754500221	287	P>R		No	ClinGen Ensembl
rs1432854567 CA381949967	290	R>K		No	ClinGen gnomAD
rs1565518859 CA381949944	291	P>L		No	ClinGen Ensembl
rs762748425 CA6199479	291	P>T		No	ClinGen ExAC gnomAD
rs775639161 CA6199478	293	Y>D		No	ClinGen ExAC gnomAD
CA381949866 rs1483976364	295	M>T		No	ClinGen TOPMed gnomAD
CA381949860 rs1246468736	296	K>E		No	ClinGen TOPMed
rs1208766502 CA381949856	296	K>I		No	ClinGen gnomAD
rs878870688 CA224853390	303	K>E		No	ClinGen gnomAD
rs1397096537 CA381949799	305	R>G		No	ClinGen gnomAD
CA6199473 rs771451998	305	R>K		No	ClinGen ExAC TOPMed gnomAD
CA6199471 rs747412510	306	A>G		No	ClinGen ExAC gnomAD
rs773785529 CA6199470	307	R>G		No	ClinGen ExAC gnomAD
rs1591542801 CA381949778	308	N>S		No	ClinGen Ensembl
TCGA novel	309	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381949760 rs1417695563	311	I>V		No	ClinGen gnomAD
CA6199468 rs748557699	312	P>L		No	ClinGen ExAC TOPMed gnomAD
rs772519926 CA6199469	312	P>S		No	ClinGen ExAC gnomAD
rs772519926 CA381949752	312	P>T		No	ClinGen ExAC gnomAD
rs1425515918 CA381949744	313	T>I		No	ClinGen gnomAD
rs376353628 CA6199467	314	L>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1415823764 CA381949742	314	L>V		No	ClinGen TOPMed
CA6199465 rs745372030	316	D>Y		No	ClinGen ExAC gnomAD
rs1213985341 CA381949711	319	T>A		No	ClinGen TOPMed gnomAD
rs150358857 CA6199463	319	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6199464 rs150358857	319	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs751394717 CA6199462	320	L>F		No	ClinGen ExAC gnomAD
rs1245927249 CA381949699	321	A>G		No	ClinGen gnomAD
TCGA novel	323	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764040453 CA6199461	324	E>*		No	ClinGen ExAC TOPMed gnomAD
rs758148147 CA6199460	324	E>G		No	ClinGen ExAC gnomAD
CA6199459 rs752527111	325	R>G		No	ClinGen ExAC gnomAD
TCGA novel	325	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	325	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1341197942 CA381949660	327	F>L		No	ClinGen gnomAD
CA381949653 rs1300337282	328	V>M		No	ClinGen gnomAD
CA6199458 rs765419939	329	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1384479961 CA381949641	330	F>I		No	ClinGen gnomAD
rs1384479961 CA381949640	330	F>L		No	ClinGen gnomAD
CA6199457 rs759809373	332	L>F		No	ClinGen ExAC gnomAD
CA381949624 rs759809373	332	L>V		No	ClinGen ExAC gnomAD
rs371285012 CA381949616	333	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs371285012 CA6199456	333	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6199455 rs766316923	334	R>C		No	ClinGen ExAC gnomAD
COSM932162 CA6199454 rs140271685	334	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs775715309 CA224853321	336	P>A		No	ClinGen Ensembl
CA224853308 rs77289256	337	P>Q		No	ClinGen Ensembl
rs773555890 CA6199452	339	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs772747233 CA6199451	340	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1489671293 CA381949569	341	L>P		No	ClinGen TOPMed gnomAD
CA381949568 rs1489671293	341	L>R		No	ClinGen TOPMed gnomAD
CA381949572 rs1210817231	341	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA224853301 rs1053492041	342	R>T		No	ClinGen Ensembl
CA6199450 rs762247508	344	T>S		No	ClinGen ExAC gnomAD
rs184766893 CA6199447	346	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs552942099 CA6199446	347	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs151233592 CA6199444	347	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA6199445 rs151233592	347	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA6199442 rs746559076	350	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1325191871 CA381949508	351	S>N		No	ClinGen gnomAD
rs532591376 CA6199440	352	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs532591376 CA6199439	352	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs778742764 CA6199438	353	I>S		No	ClinGen ExAC gnomAD
CA6199437 rs368753721	355	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs766657500 CA224853262	358	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1416779487 CA381949442	359	E>K		No	ClinGen gnomAD
rs1265670727 CA381949417	360	Q>R		No	ClinGen gnomAD
CA381948740 rs1565517735	363	I>T		No	ClinGen Ensembl
rs750526391 CA6199415	363	I>V		No	ClinGen ExAC gnomAD
rs1307054050 CA381948719	364	F>L		No	ClinGen gnomAD
CA6199411 rs536599606	368	A>T		No	ClinGen ExAC gnomAD
rs1591541314 CA381948620	368	A>V		No	ClinGen Ensembl
TCGA novel	369	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6199409 rs763195741	370	D>N		No	ClinGen ExAC TOPMed gnomAD
CA6199407 rs201721341	371	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381948521 rs1157380794	372	Q>K		No	ClinGen gnomAD
CA381948473 rs139949435	373	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA381948489 rs1323388324	373	Y>H		No	ClinGen TOPMed
rs1238505155 CA381948482	373	Y>S		No	ClinGen gnomAD
CA6199403 rs779270640	374	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA381948442 rs779270640	374	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA381948366 rs1217596984	376	S>F		No	ClinGen gnomAD
rs1451048684 CA381948361	377	V>M		No	ClinGen TOPMed gnomAD
CA381948324 rs1222948285	378	A>G		No	ClinGen gnomAD
rs779968297 CA6199399	378	A>P		No	ClinGen ExAC TOPMed gnomAD
CA381948313 rs1356984717	379	P>S		No	ClinGen gnomAD
TCGA novel	382	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs11237146 VAR_055873 CA6199398	383	H>Y		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1458435860 CA381948236	385	G>S		No	ClinGen TOPMed gnomAD
rs781587093 CA6199396	386	R>C		No	ClinGen ExAC TOPMed gnomAD
rs757371607 CA6199395	386	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6199391 VAR_055874 rs11237145	390	I>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1400430713 CA381948144	394	A>P		No	ClinGen gnomAD
rs765567778 CA6199390	394	A>V		No	ClinGen ExAC gnomAD
VAR_064764	396	N>K		No	UniProt
TCGA novel	396	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA224852536 rs202143817	397	N>I		No	ClinGen ExAC TOPMed gnomAD
CA6199387 rs202143817	397	N>S		No	ClinGen ExAC TOPMed gnomAD
rs947886229 CA224852522	398	I>T		No	ClinGen Ensembl
rs767202060 CA6199385	399	S>G		No	ClinGen ExAC gnomAD
rs767202060 CA381948112	399	S>R		No	ClinGen ExAC gnomAD
rs761293382 CA6199384	400	I>V		No	ClinGen ExAC gnomAD
CA6199383 rs139634188	401	I>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6199382 rs139634188	401	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749182440 CA6199381	402	N>K		No	ClinGen ExAC
CA6199379 rs775303267	403	V>A		No	ClinGen ExAC TOPMed gnomAD
rs769582672 CA6199378	405	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs769582672 CA381948070	405	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA224852477 rs905222052	406	K>R		No	ClinGen TOPMed
CA381948044 rs1278312176	409	F>L		No	ClinGen gnomAD
CA6199376 rs781532010	410	P>S		No	ClinGen ExAC gnomAD
CA381948018 rs1430537731	413	L>I		No	ClinGen gnomAD
CA6199351 rs777867299	415	D>E		No	ClinGen ExAC gnomAD
CA224841105 rs967400214	415	D>G		No	ClinGen TOPMed
CA381946697 rs1479395337	415	D>N		No	ClinGen gnomAD
CA224841101 rs79878697	416	Y>*		No	ClinGen Ensembl
CA381946681 rs1210153282	416	Y>H		No	ClinGen TOPMed gnomAD
CA381946683 rs1210153282	416	Y>N		No	ClinGen TOPMed gnomAD
CA6199350 rs772138837	420	N>D		No	ClinGen ExAC TOPMed gnomAD
rs371398727 CA6199348	421	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1232649200 CA381946586	421	I>S		No	ClinGen gnomAD
CA6199349 rs748220170	421	I>V		No	ClinGen ExAC gnomAD
CA224841092 rs958817664	422	H>R		No	ClinGen TOPMed
rs369003543 CA6199347	423	I>T		No	ClinGen ESP ExAC gnomAD
CA224841086 rs949843019	424	N>D		No	ClinGen TOPMed gnomAD
rs949843019 CA381946541	424	N>H		No	ClinGen TOPMed gnomAD
CA6199346 rs754200411	424	N>I		No	ClinGen ExAC gnomAD
CA381946535 rs754200411	424	N>S		No	ClinGen ExAC gnomAD
CA224841079 rs1034560793 COSM545159	425	V>I	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA381946517 rs1034560793	425	V>L		No	ClinGen TOPMed gnomAD
rs751175673 CA381946471	427	T>I		No	ClinGen ExAC TOPMed gnomAD
CA6199343 rs751175673	427	T>N		No	ClinGen ExAC TOPMed gnomAD
CA6199340 rs752195288	428	V>A		No	ClinGen ExAC gnomAD
COSM932159 rs762493323 CA6199341	428	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6199339 rs139880084	429	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1025547832 CA224841066	429	N>S		No	ClinGen TOPMed gnomAD
CA381946396 rs1565511207	432	W>*		No	ClinGen Ensembl
CA381946392 rs1591533199	433	L>I		No	ClinGen Ensembl
rs372324659 CA6199337	434	F>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1449975437 CA381946356	436	L>M		No	ClinGen TOPMed
rs1332847069 CA381946348	437	A>T		No	ClinGen TOPMed
rs1376974516 CA381946338	437	A>V		No	ClinGen TOPMed
CA381946331 rs1209674531	438	W>*		No	ClinGen gnomAD
rs770790218 CA224841057	439	C>S		No	ClinGen ExAC gnomAD
CA6199336 rs770790218	439	C>Y		No	ClinGen ExAC gnomAD
rs1287223546 CA381946294	440	S>F		No	ClinGen gnomAD
rs370654020 CA224841055	441	R>K		No	ClinGen Ensembl
rs1565511164 CA381946270	442	I>N		No	ClinGen Ensembl
rs1565511160 CA381946244	444	S>A		No	ClinGen Ensembl
CA6199335 rs760406032	444	S>L		No	ClinGen ExAC
CA381946227 rs1315674163	445	V>E		No	ClinGen gnomAD
CA6199334 rs116543089	446	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377106981 CA224841044	449	N>D		No	ClinGen Ensembl
CA224841041 rs373177608	450	I>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373177608 COSM1357099 CA6199333	450	I>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA381946145 rs1311335578	452	L>I		No	ClinGen TOPMed gnomAD
CA224841038 rs111993216	452	L>P		No	ClinGen Ensembl
rs779034959 CA6199331	457	D>H		No	ClinGen ExAC gnomAD
rs779034959 CA381946095	457	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1299825846 CA381946079	458	H>D		No	ClinGen gnomAD
rs1466393011 CA381946056	459	P>H		No	ClinGen gnomAD
rs768728022 CA381946039	461	F>I		No	ClinGen ExAC TOPMed gnomAD
rs768728022 CA6199330	461	F>L		No	ClinGen ExAC TOPMed gnomAD
CA6199329 rs749738554	463	M>V		No	ClinGen ExAC TOPMed
rs1462974713 CA381945666	464	T>I		No	ClinGen gnomAD
CA6199313 rs774569925	465	P>Q		No	ClinGen ExAC gnomAD
rs761877243 COSM932158 CA6199314	465	P>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA381945641 rs1207613176	466	K>T		No	ClinGen TOPMed
CA381945569 rs1427159980	468	Y>*		No	ClinGen TOPMed gnomAD
CA6199310 rs116135386	468	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768674618 CA6199311	468	Y>N		No	ClinGen ExAC gnomAD
rs1261513717 CA381945514	470	F>L		No	ClinGen gnomAD
CA381945464 rs1248464121	472	W>C		No	ClinGen TOPMed
rs775943831 CA6199309	474	L>P		No	ClinGen ExAC TOPMed gnomAD
CA381945398 rs1591530362	476	D>G		No	ClinGen Ensembl
CA6199307 rs746230267	477	I>T		No	ClinGen ExAC gnomAD
CA6199308 rs770251628	477	I>V		No	ClinGen ExAC gnomAD
rs1318684447 CA381945352	478	I>F		No	ClinGen gnomAD
CA6199304 rs548426468	484	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs548426468 CA6199303	484	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs932876048 CA224839674	485	A>D		No	ClinGen TOPMed gnomAD
CA224839672 rs932876048	485	A>G		No	ClinGen TOPMed gnomAD
CA6199302 rs531524366	485	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1442752977 CA381945214	486	I>M		No	ClinGen gnomAD
rs1483795481 CA381945218	486	I>T		No	ClinGen TOPMed gnomAD
rs1301740319 CA381945226	486	I>V		No	ClinGen gnomAD
CA381945160 rs1169574967	488	C>F		No	ClinGen TOPMed
CA6199301 rs754494317	489	F>I		No	ClinGen ExAC gnomAD
rs1465741365 CA381945124	490	H>N		No	ClinGen gnomAD
rs76566721 CA6199300	490	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381945097 rs1165613339	491	W>*		No	ClinGen gnomAD
rs771147328 CA6199286	492	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs549224703 CA6199287	492	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA381944107 rs1179752882	494	E>D		No	ClinGen gnomAD
TCGA novel	498	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6199285 rs747406984	499	K>T		No	ClinGen ExAC gnomAD
CA6199284 rs138522428	500	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1480655008 CA381943969	503	T>A		No	ClinGen TOPMed
CA381943965 rs1279372691	503	T>I		No	ClinGen gnomAD
CA381943973 rs1480655008	503	T>P		No	ClinGen TOPMed
CA224839046 rs1007397666	506	T>I		No	ClinGen TOPMed
rs201940142 CA6199282	507	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6199281 rs748805250	507	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6199280 rs779369052	508	T>I		No	ClinGen ExAC gnomAD
rs200415079 CA6199244	510	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs115620947 CA6199242	510	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381941239 rs1192146532	512	S>G		No	ClinGen TOPMed gnomAD
CA6199223 rs748243492	515	L>M		No	ClinGen TOPMed
CA381941150 rs1157300971	516	H>P		No	ClinGen TOPMed
CA6199220 rs746890970	517	I>V		No	ClinGen ExAC gnomAD
rs1467669282 CA381941136	518	A>D		No	ClinGen gnomAD
CA381941137 rs1304385614	518	A>S		No	ClinGen gnomAD
COSM3810469 rs867036924 CA224832335	519	M>I	breast [Cosmic]	No	ClinGen cosmic curated Ensembl
CA381941132 rs1232985113	519	M>V		No	ClinGen gnomAD
CA6199219 rs760740438	521	P>H		No	ClinGen ExAC gnomAD
CA6199218 rs575479337	522	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA381941105 rs1565500524	523	V>L		No	ClinGen Ensembl
CA6199215 rs182145737	524	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6199214 rs200939714	524	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA381941093 rs200939714	524	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs200939714 CA6199213	524	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6199212 rs766512814	525	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1298837911 CA381941075	526	V>M		No	ClinGen TOPMed gnomAD
CA6199210 rs374945069	528	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA6199211 rs374945069	528	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	529	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs534624865 CA224832285	530	W>G		No	ClinGen gnomAD
CA6199209 rs768180077	531	T>N		No	ClinGen ExAC gnomAD
rs1171478199 CA381940982	533	A>T		No	ClinGen gnomAD
CA6199207 rs774838250	536	Y>*		No	ClinGen ExAC gnomAD
CA6199206 rs764790482	537	P>L		No	ClinGen ExAC TOPMed gnomAD
CA6199204 rs770378196	538	A>D		No	ClinGen ExAC gnomAD
CA6199203 rs770378196	538	A>G		No	ClinGen ExAC gnomAD
CA381940898 rs1211120453	539	L>V		No	ClinGen TOPMed gnomAD
CA381940887 rs773098667	540	P>A		No	ClinGen ExAC TOPMed gnomAD
CA381940885 rs773098667	540	P>S		No	ClinGen ExAC TOPMed gnomAD
CA6199201 rs773098667	540	P>T		No	ClinGen ExAC TOPMed gnomAD
rs747880119 CA6199199	541	K>E		No	ClinGen ExAC gnomAD
CA381940869 rs1308329915	541	K>R		No	ClinGen gnomAD
rs778704867 CA6199198	542	S>C		No	ClinGen ExAC gnomAD
CA381940789 rs749481620	546	H>P		No	ClinGen ExAC gnomAD
rs749481620 CA6199196	546	H>R		No	ClinGen ExAC gnomAD
rs780459031 CA6199194	547	Q>E		No	ClinGen ExAC
rs750581213 CA6199192	547	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs750581213 CA6199193	547	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA381940759 rs1433865036	549	H>Y		No	ClinGen gnomAD
rs1427658595 CA381940749	550	F>S		No	ClinGen TOPMed
rs146028525 CA6199191	551	N>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381940742 rs1172650007	551	N>S		No	ClinGen TOPMed
rs61900040 CA224832207	553	A>E		No	ClinGen gnomAD
rs61900040 CA381940727	553	A>G		No	ClinGen gnomAD
CA6199190 rs142599319	555	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA224832195 rs966126546	557	K>N		No	ClinGen Ensembl
CA381940697 rs1308054428	558	K>T		No	ClinGen TOPMed
CA6199187 rs763248696	559	L>R		No	ClinGen ExAC gnomAD
rs776222639 CA6199186	561	P>S		No	ClinGen ExAC gnomAD
rs760152970 CA6199184	562	I>M		No	ClinGen ExAC gnomAD
CA381940678 rs1218518647	562	I>V		No	ClinGen gnomAD
rs1287831586 CA381940667	563	K>R		No	ClinGen gnomAD
CA381940630 rs1289780588	565	A>G		No	ClinGen TOPMed gnomAD
CA6199182 rs552616366	566	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs552616366 CA224832176	566	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1230775366 CA381940618	567	T>A		No	ClinGen TOPMed
CA381940600 rs1395291772	568	P>S		No	ClinGen gnomAD
CA6199179 rs774181451	569	L>S		No	ClinGen ExAC
rs749077948 CA6199177	570	K>N		No	ClinGen ExAC gnomAD
rs1237821733 CA381940575	570	K>Q		No	ClinGen gnomAD
rs768462644 CA6199178	570	K>R		No	ClinGen ExAC TOPMed gnomAD
CA6199174 rs745940525	571	P>H		No	ClinGen ExAC
rs770201522 CA6199175	571	P>S		No	ClinGen ExAC TOPMed gnomAD
rs770201522 CA6199176	571	P>T		No	ClinGen ExAC TOPMed gnomAD
CA6199171 rs778174777	572	G>D		No	ClinGen ExAC gnomAD
CA381940546 rs1462552895	572	G>S		No	ClinGen gnomAD
rs778174777 CA6199170	572	G>V		No	ClinGen ExAC gnomAD
rs1262901695 CA381940513	574	H>N		No	ClinGen gnomAD
CA381940507 rs1402867285	574	H>P		No	ClinGen gnomAD
CA6199168 rs753105823	574	H>Q		No	ClinGen ExAC TOPMed
CA6199167 rs765999450	575	E>K		No	ClinGen ExAC gnomAD
rs1214459682 CA381940463	577	Q>*		No	ClinGen gnomAD
rs1591519969 CA381940454	577	Q>H		No	ClinGen Ensembl
rs1214459682 CA381940467	577	Q>K		No	ClinGen gnomAD
rs1168755348 CA381940460	577	Q>P		No	ClinGen TOPMed
rs567456494 CA6199165	579	P>L		No	ClinGen ExAC TOPMed gnomAD
CA381940403 rs1350361785	581	P>S		No	ClinGen TOPMed
rs1003796012 CA224832091	583	V>M		No	ClinGen TOPMed gnomAD
CA381940352 rs1369134314	585	F>S		No	ClinGen TOPMed
CA224832086 rs868775509	587	L>F		No	ClinGen Ensembl
CA381940281 rs1364458413	591	P>A		No	ClinGen gnomAD
rs767007104 CA6199163	591	P>L		No	ClinGen ExAC gnomAD
CA381940278 rs767007104	591	P>R		No	ClinGen ExAC gnomAD
CA6199162 rs761263978	593	R>K		No	ClinGen ExAC TOPMed gnomAD
rs551793548 CA224832070	593	R>S		No	ClinGen 1000Genomes
rs1391608250 CA381940265	594	Q>E		No	ClinGen gnomAD
rs897181452 CA224832068	594	Q>R		No	ClinGen Ensembl
CA381940252 rs1045514108	596	T>A		No	ClinGen TOPMed
CA381940249 rs1466008447	596	T>I		No	ClinGen TOPMed
CA381940250 rs1466008447	596	T>R		No	ClinGen TOPMed
rs1045514108 CA224832066	596	T>S		No	ClinGen TOPMed
CA381940241 rs1188782974	597	S>R		No	ClinGen TOPMed
rs1241113880 CA381940229	599	A>V		No	ClinGen TOPMed
CA381940225 rs1412972540	600	T>A		No	ClinGen TOPMed gnomAD
rs774317564 CA6199161	600	T>N		No	ClinGen ExAC gnomAD
rs373698539 CA224832062	602	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs374953992 CA224832059	603	T>S		No	ClinGen gnomAD
CA224832056 rs1005595817	605	L>V		No	ClinGen TOPMed gnomAD
CA224832053 rs888508704	608	L>P		No	ClinGen Ensembl
rs1048894645 CA224832051	609	K>M		No	ClinGen Ensembl
rs12363944 CA6199159	610	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381940162 rs1435479943	610	V>M		No	ClinGen TOPMed
rs900318137 CA224832043	615	M>I		No	ClinGen Ensembl
rs566677854 CA224832042	616	P>S		No	ClinGen Ensembl
rs1340333337 CA381940089	617	S>F		No	ClinGen gnomAD
rs1248305969 CA381940063	620	V>I		No	ClinGen Ensembl
rs909209084 CA224832025	622	Y>C		No	ClinGen TOPMed gnomAD
CA381940028 rs1368633125	623	P>S		No	ClinGen gnomAD

No associated diseases with Q6W3E5

1 regional properties for Q6W3E5

Type	Name	Position	InterPro Accession
domain	Glycerophosphodiester phosphodiesterase domain	198 - 457	IPR030395

Functions

		Description
EC Number
Subcellular Localization	Membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

2 GO annotations of molecular function

Name	Definition
glycerophosphodiester phosphodiesterase activity	Catalysis of the reaction: a glycerophosphodiester + H2O = an alcohol + sn-glycerol 3-phosphate.
metal ion binding	Binding to a metal ion.

1 GO annotations of biological process

Name	Definition
lipid metabolic process	The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9SD81	GDPD6	Glycerophosphodiester phosphodiesterase GDPD6	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MLLFLWIETS	SEYFNFDWVT	FLGTGYWFFW	SIFILSLARI	LTAYSSLLLL	LGFLLLWERI
70	80	90	100	110	120
ELYLHLCHKI	LILLVILLCV	ILMFIICKFW	KERWLVAGLS	MQIFAPYVHL	VSITVMVILF
130	140	150	160	170	180
WPVAFYVACL	EREVRMRRYR	MTHSEKKRLK	QCNVITRLRG	LQVPVGLPFL	LILLGLYLMP
190	200	210	220	230	240
LGIYSPCIQE	KENLGPKPTI	FGHRGAPMLG	PENTMMSFEK	AVEHGAHGLE	TDIHLSYDHV
250	260	270	280	290	300
PFLMHDFDLK	RTTNIGEVQP	ESACENPAFF	NWDFLSTLNA	GKWFVKPELR	PFYNMKPLSE
310	320	330	340	350	360
ADKERARNQS	IPTLADLLTL	AEKERKFVIF	DLHRPPPKHP	LRHTFVRQVV	SVILASKIEQ
370	380	390	400	410	420
HLIFWLPAHD	RQYVRSVAPG	FQHVGRLVSI	ETLAKNNISI	INVDYKKLFP	NGLRDYKAAN
430	440	450	460	470	480
IHINVYTVNE	PWLFSLAWCS	RINSVTTDNI	GLLSQLDHPH	FFMTPKFYVF	MWLLADIISV
490	500	510	520	530	540
LFIVAIFCFH	WRRETEKEKL	FETSSTRTDT	QSGNLHIAMK	PPVRVVEGPW	TLAALYPALP
550	560	570	580	590	600
KSGKEHQGHF	NFAAPSKKLL	PIKNAVTPLK	PGKHEIQPPM	PTVVFELTQA	PTRQATSEAT
610	620
FQTTLPTLKV	DKPTMPSIEV	PYP