AiPD: Autoinhibited Protein Database

O00423

Gene name	EML1 (EMAP1, EMAPL, EMAPL1)
Protein name	Echinoderm microtubule-associated protein-like 1
Names	EMAP-1, HuEMAP-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2009
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

95-205 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

95-205 (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

2 structures for O00423

Entry ID	Method	Resolution	Chain	Position	Source
4CI8	X-ray	260 A	A/B	167-815	PDB
AF-O00423-F1	Predicted				AlphaFoldDB

537 variants for O00423

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000240860 rs886037935 CA10586384	138	R>*	Band heterotopia of brain [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
VAR_071075 CA10586386 RCV000240859 rs886037937	225	W>R	Band heterotopia of brain BH [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA10586385 VAR_071076 rs886037936 RCV000240858	243	T>A	Band heterotopia of brain BH; decreased microtubule-binding [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA390961293 rs1555404109 RCV000660884	523	R>*	Band heterotopia of brain [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_081119	523	R>del	BH [UniProt]	Yes	UniProt
RCV001329250 rs2060118585	633	R>*	Band heterotopia of brain [ClinVar]	Yes	ClinVar dbSNP
rs1412026126 CA390953196	2	E>Q		No	ClinGen TOPMed
CA390953207 rs1188512269	3	D>G		No	ClinGen TOPMed
rs866090534 CA266705190	4	G>S		No	ClinGen Ensembl
CA390953229 rs1262642665	6	S>F		No	ClinGen TOPMed
rs752433188 CA7342165	7	S>T		No	ClinGen ExAC gnomAD
CA390953260 rs1490832929	10	S>R		No	ClinGen TOPMed
rs1265939463 CA390953262	11	L>V		No	ClinGen TOPMed
CA390953287 rs1319705298	14	T>M		No	ClinGen TOPMed
rs1408837859 CA390953288	15	S>T		No	ClinGen gnomAD
CA390953328 rs1311296449	21	C>R		No	ClinGen gnomAD
CA7342198 rs779344866	23	D>G		No	ClinGen ExAC gnomAD
rs748407253 CA7342199	24	D>V		No	ClinGen ExAC gnomAD
rs772128160 CA7342200	26	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1484904009 CA390961868	26	A>V		No	ClinGen gnomAD
rs1231505640 CA390961905	29	A>T		No	ClinGen TOPMed
TCGA novel	32	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7342201 rs773366302	32	M>V		No	ClinGen ExAC gnomAD
rs1566897568 CA390961968	33	E>K		No	ClinGen Ensembl
CA390961980 rs1366436485	34	V>M		No	ClinGen TOPMed
rs1475233729 CA390961999	36	D>N		No	ClinGen gnomAD
rs760634692 CA7342202	37	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs772696242 CA7342203 COSM199325	37	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs376349469 CA7342204	38	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA390962040 rs1162964154	39	A>V		No	ClinGen gnomAD
TCGA novel	44	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7342205 rs780402565	47	M>L		No	ClinGen ExAC gnomAD
CA390962240 rs780402565	47	M>V		No	ClinGen ExAC gnomAD
TCGA novel	51	D>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768931630 CA266751176	52	I>L		No	ClinGen Ensembl
CA390962284 rs1296864940	52	I>M		No	ClinGen gnomAD
rs1435242505 CA390962291	53	Q>H		No	ClinGen TOPMed
CA7342208 rs567747811	56	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA7342209 rs767034070	57	S>A		No	ClinGen ExAC gnomAD
rs777004379 CA7342210	58	A>D		No	ClinGen ExAC TOPMed gnomAD
CA266751202 rs777004379	58	A>G		No	ClinGen ExAC TOPMed gnomAD
CA390962318 rs1229980680	58	A>S		No	ClinGen gnomAD
CA7342211 rs755662067	59	L>V		No	ClinGen ExAC TOPMed gnomAD
rs762605264 CA266751216	62	V>M		No	ClinGen TOPMed
CA7342212 rs780763756	64	R>Q		No	ClinGen ExAC gnomAD
CA266751227 rs981038918 COSM3419618	64	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA390962353 rs1210669175	65	R>Q		No	ClinGen TOPMed gnomAD
rs754391824 CA7342213	65	R>W		No	ClinGen ExAC gnomAD
rs1595378783 CA390962356	66	L>V		No	ClinGen Ensembl
rs141871132 CA390962369	68	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs141871132 CA7342215	68	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA390962394 rs1595378818	71	E>V		No	ClinGen Ensembl
CA390962402 rs1381819014	72	Q>R		No	ClinGen gnomAD
rs777830374 CA7342218	74	A>S		No	ClinGen ExAC gnomAD
CA7342220 rs770989241	75	V>M		No	ClinGen ExAC TOPMed gnomAD
rs909654752 CA266751303	76	L>R		No	ClinGen Ensembl
rs775475932 CA7342221	78	R>G		No	ClinGen ExAC gnomAD
TCGA novel	80	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs943791323 CA390962485	80	G>E		No	ClinGen TOPMed
rs943791323 CA266751312	80	G>V		No	ClinGen TOPMed
rs1393358557 CA390953359	84	A>V		No	ClinGen TOPMed
CA7342253 rs369479741	85	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	86	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA390953375 rs1363098344	87	L>P		No	ClinGen TOPMed gnomAD
rs757497819 CA7342254	88	M>V		No	ClinGen ExAC gnomAD
CA7342255 rs781357485	89	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA390953395 rs1332029072	90	T>N		No	ClinGen gnomAD
CA266713877 rs201808030	92	P>L		No	ClinGen Ensembl
COSM173887 CA7342257 rs756132735	96	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7342259 rs193255816	98	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA390953458 rs1488503869 COSM1371945	100	G>D	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA266713900 rs866767258	100	G>S		No	ClinGen Ensembl
rs773164346 CA7342261	108	T>I		No	ClinGen ExAC gnomAD
CA7342262 rs141631682 RCV000879386	109	G>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1399107214 CA390953552	110	S>C		No	ClinGen gnomAD
rs1311562691 CA390953571	112	P>Q		No	ClinGen gnomAD
rs1355437115 CA390953583	113	S>C		No	ClinGen TOPMed gnomAD
CA390953581 rs1355437115	113	S>Y		No	ClinGen TOPMed gnomAD
rs759177439 CA7342265	114	P>A		No	ClinGen ExAC TOPMed gnomAD
CA390953590 rs1357859355	114	P>R		No	ClinGen gnomAD
CA7342267 rs371961894	116	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs199650308 CA7342268	119	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1306518140 CA390953656	121	T>A		No	ClinGen gnomAD
rs764618558 CA7342269	124	P>L		No	ClinGen ExAC gnomAD
rs910911396 CA266713927	125	A>P		No	ClinGen TOPMed gnomAD
rs751958406 CA7342270	125	A>V		No	ClinGen ExAC gnomAD
CA390953724 rs1188168961	127	K>N		No	ClinGen gnomAD
CA390955446 rs1272647511	130	I>M		No	ClinGen gnomAD
CA7342309 rs773480441	132	R>T		No	ClinGen ExAC
rs761071014 CA7342310	138	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA390955500 rs1446842936	139	V>L		No	ClinGen gnomAD
CA390955504 rs1228900074	140	S>T		No	ClinGen TOPMed
CA390955514 rs1426458554	141	P>R		No	ClinGen gnomAD
rs776900171 CA390955519	142	G>A		No	ClinGen ExAC gnomAD
CA7342312 rs776900171	142	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA390955516 rs1595421061	142	G>R		No	ClinGen Ensembl
CA390955523 rs1367414671	143	G>C		No	ClinGen gnomAD
CA7342313 rs144315305	143	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA390955521 rs1367414671	143	G>S		No	ClinGen gnomAD
CA390955530 rs1164652665	144	R>Q		No	ClinGen TOPMed gnomAD
rs752770872 CA7342315	148	N>S		No	ClinGen ExAC TOPMed gnomAD
CA390955565 rs1304751208	149	G>A		No	ClinGen TOPMed
rs1342349380 CA390955567	150	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA390955578 rs928193159	151	S>C		No	ClinGen TOPMed gnomAD
CA266722467 rs928193159	151	S>Y		No	ClinGen TOPMed gnomAD
CA390955580 rs1312009273	152	R>G		No	ClinGen TOPMed gnomAD
CA7342318 rs750230794	155	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1371947 CA7342319 rs201185419	157	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs779637372 CA7342320	157	R>H		No	ClinGen ExAC TOPMed gnomAD
CA7342321 rs749660797	158	T>I		No	ClinGen ExAC gnomAD
rs749660797 CA390955620	158	T>K		No	ClinGen ExAC gnomAD
CA390955638 rs779370794	161	T>I		No	ClinGen ExAC TOPMed gnomAD
CA7342323 rs779370794	161	T>S		No	ClinGen ExAC TOPMed gnomAD
CA7342324 rs748693883	164	S>C		No	ClinGen ExAC gnomAD
rs1256268506 CA390955662	165	S>P		No	ClinGen TOPMed
CA390955706 rs1423949084	171	S>C		No	ClinGen gnomAD
rs1423949084 CA390955705	171	S>G		No	ClinGen gnomAD
CA7342351 rs768636587	175	P>R		No	ClinGen ExAC TOPMed gnomAD
CA390957039 rs1374653116	178	P>S		No	ClinGen TOPMed
rs898634202 CA266733140	181	S>G		No	ClinGen TOPMed gnomAD
rs898634202 CA390957069	181	S>R		No	ClinGen TOPMed gnomAD
CA266735492 rs1055155649	186	Y>C		No	ClinGen TOPMed gnomAD
CA390957731 rs1595446107	187	V>A		No	ClinGen Ensembl
rs1279467982 CA390957781	189	M>I		No	ClinGen gnomAD
TCGA novel	190	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA390957835 rs1343214276 COSM1707877	192	R>C	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs749083976 CA7342370	192	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA266735518 rs749083976	192	R>P		No	ClinGen ExAC TOPMed gnomAD
rs768385829 CA7342371	193	G>E		No	ClinGen ExAC gnomAD
rs577805530 CA7342372	194	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1214245534 CA390957871	194	R>H		No	ClinGen gnomAD
rs1285075664 CA390957882	195	P>A		No	ClinGen gnomAD
CA7342373 rs761687162	195	P>L		No	ClinGen ExAC gnomAD
rs770994133 CA7342374	197	T>A		No	ClinGen ExAC gnomAD
CA390957918 rs1235789625	197	T>I		No	ClinGen gnomAD
CA7342376 rs759686790	198	M>L		No	ClinGen ExAC gnomAD
rs759686790 CA7342377	198	M>V		No	ClinGen ExAC gnomAD
CA390957955 rs1416288836	199	Y>C		No	ClinGen gnomAD
CA7342379 rs763351218	200	M>T		No	ClinGen ExAC TOPMed gnomAD
CA7342378 rs752972653	200	M>V		No	ClinGen ExAC gnomAD
CA7342380 rs764402431	201	P>A		No	ClinGen ExAC gnomAD
rs1311654855 CA390958007	202	K>R		No	ClinGen TOPMed gnomAD
rs752060828 CA7342381	204	Q>R		No	ClinGen ExAC gnomAD
CA390958041 rs1284407294	205	V>L		No	ClinGen TOPMed gnomAD
rs1284407294 CA390958039	205	V>M		No	ClinGen TOPMed gnomAD
rs1380812346 CA390958057	206	D>V		No	ClinGen gnomAD
CA7342382 rs757722177	208	Y>*		No	ClinGen ExAC gnomAD
rs749951880 CA7342384	213	K>R		No	ClinGen ExAC gnomAD
CA7342385 rs755746063	214	V>A		No	ClinGen ExAC gnomAD
TCGA novel	217	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7342386 rs779832984	218	T>A		No	ClinGen ExAC gnomAD
CA390958192 rs1222002027	218	T>I		No	ClinGen gnomAD
rs768458744 CA7342388	220	R>K		No	ClinGen ExAC gnomAD
CA390958252 rs1221328193	226	V>I		No	ClinGen TOPMed
rs777466555 CA266737309	227	Y>C		No	ClinGen TOPMed
CA390958309 rs1595449838	233	D>A		No	ClinGen Ensembl
rs746986316 CA7342413	242	P>L		No	ClinGen ExAC gnomAD
CA266737355 rs1037525338	243	T>K		No	ClinGen Ensembl
rs749465112 COSM199348 CA7342416	247	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs929213761 CA266737412	251	A>T		No	ClinGen Ensembl
rs201716032 CA7342421	253	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA390958448 rs1595449973	254	V>G		No	ClinGen Ensembl
CA390958451 rs1208314885 COSM1477361	255	V>L	Variant assessed as Somatic; 4.623e-05 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA390958456 rs1399359016	256	L>V		No	ClinGen TOPMed
CA390958463 rs1301898693	257	Y>H		No	ClinGen TOPMed
rs761286833 CA7342422	258	N>D		No	ClinGen ExAC TOPMed gnomAD
CA390958475 rs765931165	258	N>K		No	ClinGen ExAC TOPMed gnomAD
CA390958481 rs1595450007	259	V>G		No	ClinGen Ensembl
CA390958489 rs1156659165	260	E>D		No	ClinGen TOPMed
rs1595450018 CA390958487	260	E>G		No	ClinGen Ensembl
TCGA novel	260	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA390958538 rs1595450041	267	Y>S		No	ClinGen Ensembl
rs764781997 CA390958544	268	A>S		No	ClinGen ExAC gnomAD
CA7342426 COSM2148885 rs764781997	268	A>T	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1169263368 CA390958547	268	A>V		No	ClinGen gnomAD
CA390958550 rs1463156255	269	G>D		No	ClinGen gnomAD
rs752441148 CA7342427	269	G>S		No	ClinGen ExAC gnomAD
rs1387201740 CA390958563	271	N>H		No	ClinGen gnomAD
rs544894253 CA266737512	271	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA390958565 rs1304863094	271	N>S		No	ClinGen gnomAD
rs757195852 CA390958573	272	D>E		No	ClinGen ExAC gnomAD
rs746895186 CA7342430	272	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs200809929 CA390958581	273	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA390958583 rs749319570	274	V>L		No	ClinGen ExAC gnomAD
rs749319570 CA7342433	274	V>M		No	ClinGen ExAC gnomAD
rs1464489295 CA390958629	279	V>I		No	ClinGen gnomAD
CA266738379 rs753377720	283	R>Q		No	ClinGen Ensembl
CA7342456 rs778206633 COSM1205254	283	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA390958678 rs1454763720	287	A>T		No	ClinGen gnomAD
rs1376623294 CA390958684	288	T>A		No	ClinGen gnomAD
CA390958696 rs1183651500	290	Q>K		No	ClinGen TOPMed
rs771374390 CA7342458	291	V>I		No	ClinGen ExAC gnomAD
CA7342459 rs201676476	292	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7342460 rs377163239	293	G>D		No	ClinGen ESP ExAC gnomAD
rs1233196169 CA390958714	293	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7342461 rs769133936	294	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1205135496 CA390958722	294	T>R		No	ClinGen gnomAD
TCGA novel	295	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200033183 CA266738438	298	G>R		No	ClinGen Ensembl
rs1305810561 CA390958773	300	Q>E		No	ClinGen TOPMed
rs1423043972 CA390958796	303	P>R		No	ClinGen gnomAD
CA390958794 rs1566927458	303	P>S		No	ClinGen Ensembl
rs140354054 CA7342481	304	H>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA390958805 rs1330759781	305	V>M		No	ClinGen TOPMed
rs748777777 CA7342482	306	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1348466600 CA390958815	306	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1218426279 CA390958862	313	L>S		No	ClinGen TOPMed gnomAD
TCGA novel	313	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM949266 rs201984017 CA7342486	318	V>I	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA266740261 rs770972865	319	I>T		No	ClinGen gnomAD
CA7342487 rs773065255	321	I>T		No	ClinGen ExAC gnomAD
rs1029082138 CA266740264	321	I>V		No	ClinGen Ensembl
CA7342488 rs760454967	322	G>D		No	ClinGen ExAC gnomAD
CA266740268 rs140561126 COSM106780	323	F>V	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
TCGA novel	325	D>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA390958937 rs1274766073	325	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs766326324 CA7342489	326	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1292235007 CA390958950	327	A>G		No	ClinGen TOPMed gnomAD
CA7342490 rs753875686	327	A>P		No	ClinGen ExAC gnomAD
CA390958951 rs1292235007	327	A>V		No	ClinGen TOPMed gnomAD
rs1191444604 CA390958973	331	I>V		No	ClinGen gnomAD
rs1435929349 CA390958982	332	A>T		No	ClinGen TOPMed
rs774471417 CA266740318	334	S>L		No	ClinGen Ensembl
TCGA novel	336	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1387438891 CA390959443	340	T>A		No	ClinGen gnomAD
CA7342512 rs200131195	341	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA390959475 rs1380699529	345	V>M		No	ClinGen TOPMed
rs200777350 CA7342513	346	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA266744965 rs953860102	346	D>H		No	ClinGen TOPMed
rs925373616 CA266745005	349	N>D		No	ClinGen TOPMed
CA390959506 rs141653535	349	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs202153209 CA390959508	350	D>H		No	ClinGen 1000Genomes ExAC gnomAD
rs202153209 CA7342516	350	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs142168028 CA7342518	352	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA266745061 rs949662316	355	V>I		No	ClinGen TOPMed
rs775867027 CA266745068	357	D>G		No	ClinGen gnomAD
TCGA novel	359	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1311963192 CA390959586	361	E>K		No	ClinGen TOPMed
CA390959594 rs1237760524	362	E>K		No	ClinGen gnomAD
rs1308271924 CA390959603	363	K>E		No	ClinGen gnomAD
CA7342519 rs367836399	365	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs779465949 CA7342520	365	A>V		No	ClinGen ExAC gnomAD
CA390959631 rs1285364591	367	V>A		No	ClinGen TOPMed
rs1373025630 CA390959627	367	V>M		No	ClinGen TOPMed
rs1276568153 CA390959636	368	K>T		No	ClinGen gnomAD
CA7342545 rs372044881	369	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1321358203 CA390959654	369	C>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM1163075 CA266746532 rs919380637	371	N>D	pancreas [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1285215387 CA390959681	373	A>T		No	ClinGen TOPMed gnomAD
rs745642099 CA7342547	375	F>L		No	ClinGen ExAC gnomAD
rs34198557 CA390959710	377	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs34198557 CA7342548 VAR_031720	377	A>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs775460140 CA7342550	378	D>E		No	ClinGen ExAC gnomAD
rs762825387 CA7342551	382	T>M		No	ClinGen ExAC TOPMed gnomAD
rs773171158 CA7342553	385	N>S		No	ClinGen ExAC gnomAD
CA7342554 rs760811233	386	I>F		No	ClinGen ExAC TOPMed gnomAD
CA266746611 rs760811233	386	I>V		No	ClinGen ExAC TOPMed gnomAD
CA390959771 rs1225434944	387	I>V		No	ClinGen TOPMed gnomAD
CA390959817 rs1270379365	393	S>L		No	ClinGen gnomAD
CA7342555 rs766576648	394	H>Y		No	ClinGen ExAC gnomAD
rs754110185 CA7342556 COSM212533	396	Y>*	kidney Variant assessed as Somatic; impact. breast [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA
CA390959892 rs1595467310	404	S>C		No	ClinGen Ensembl
rs200224154 CA7342557	406	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA390959911 rs1191667320	407	K>R		No	ClinGen TOPMed
CA7342558 rs778766049	409	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA7342561 rs763588599	413	E>G		No	ClinGen ExAC gnomAD
COSM260679 CA7342560 rs758842019	413	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA390959951 rs758842019	413	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA390959974 rs1352265432	414	K>R		No	ClinGen gnomAD
rs778685976 CA7342588	415	Q>R		No	ClinGen ExAC gnomAD
rs770948099 CA7342590	420	F>L		No	ClinGen ExAC gnomAD
rs1179594495 CA390960030	422	L>H		No	ClinGen TOPMed
rs1236059830 CA390960037	423	C>S		No	ClinGen gnomAD
TCGA novel	426	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA390960067 rs1159799095	428	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7342596 rs764557166	430	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs763202236 CA7342595	430	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs762427162 CA7342598	433	I>V		No	ClinGen ExAC gnomAD
CA390960527 rs1595468466	434	T>A		No	ClinGen Ensembl
TCGA novel	437	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA266747460 rs143022643	438	S>G		No	ClinGen ESP
rs749952059 CA7342600	442	L>S		No	ClinGen ExAC gnomAD
rs1595468495 CA390960648	443	V>E		No	ClinGen Ensembl
rs1309868400 CA390960641	443	V>I		No	ClinGen gnomAD
rs760292201 CA7342601 CA390960674	445	G>R		No	ClinGen ExAC TOPMed gnomAD
CA390960797 rs1269660357	448	T>K		No	ClinGen gnomAD
CA7342623 rs373198786	450	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7342625 rs758242532	453	Y>C		No	ClinGen ExAC gnomAD
rs758242532 CA7342624	453	Y>S		No	ClinGen ExAC gnomAD
TCGA novel	454	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1038862727 CA266748533	455	V>A		No	ClinGen Ensembl
CA266748548 rs868832749	457	G>E		No	ClinGen Ensembl
rs1172931506 CA390960852	457	G>R		No	ClinGen gnomAD
TCGA novel	458	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1348520564 CA390960861	458	A>G		No	ClinGen gnomAD
CA390960889 rs780198361	462	G>D		No	ClinGen ExAC gnomAD
rs780198361 CA7342628	462	G>V		No	ClinGen ExAC gnomAD
CA7342629 rs749406648	463	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7342632 rs748502379	468	M>I		No	ClinGen ExAC gnomAD
CA390960949 rs1245149705	471	D>G		No	ClinGen gnomAD
rs772605923 CA7342633	474	L>V		No	ClinGen ExAC TOPMed gnomAD
CA7342634 rs773816965	476	S>L		No	ClinGen ExAC gnomAD
rs1566933571 CA390960993	479	G>R		No	ClinGen Ensembl
CA7342636 rs770288415	482	R>Q		No	ClinGen ExAC gnomAD
CA7342637 rs776208215	483	K>R		No	ClinGen ExAC gnomAD
CA390961028 rs1156530740	484	L>F		No	ClinGen TOPMed
rs1444478190 CA390961029	484	L>H		No	ClinGen gnomAD
CA7342640 rs775168648	486	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1166714409 CA390961049	487	W>*		No	ClinGen TOPMed
CA390961056 rs1418445573 COSM1371953	488	S>N	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA7342642 rs763905625	489	G>R		No	ClinGen ExAC TOPMed gnomAD
CA390961087 rs1290337969	492	Q>R		No	ClinGen gnomAD
CA7342644 rs757227237	495	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7342645 rs767424546	495	R>H		No	ClinGen ExAC gnomAD
rs753943424 CA7342646	497	T>M		No	ClinGen ExAC gnomAD
CA266750798 rs1011408110	500	P>L		No	ClinGen gnomAD
CA7342662 rs767471183	500	P>S		No	ClinGen ExAC
CA266750779 rs767471183	500	P>T		No	ClinGen ExAC
CA7342663 rs750367861	502	Q>E		No	ClinGen ExAC gnomAD
rs1264690170 CA390961172	503	F>L		No	ClinGen TOPMed gnomAD
CA390961181 rs1177541552	505	P>A		No	ClinGen TOPMed
rs1444645451 COSM1371954 CA390961195	507	R>Q	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1244613795 CA390961205	509	V>L		No	ClinGen TOPMed
rs769115435 CA266750818	511	E>K		No	ClinGen TOPMed gnomAD
rs1436504479 CA390961226	512	G>E		No	ClinGen gnomAD
CA390961230 rs1284748562	513	K>E		No	ClinGen TOPMed
CA7342666 rs752911960	513	K>R		No	ClinGen ExAC gnomAD
rs182337671 CA7342667 RCV000895024	515	D>N		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs747385711 CA7342669	516	V>A		No	ClinGen ExAC gnomAD
TCGA novel	516	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	518	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757607536 CA7342670	519	I>T		No	ClinGen ExAC gnomAD
TCGA novel	520	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1457222268 CA390961286	522	T>S		No	ClinGen gnomAD
rs1246819725 CA390961301	524	N>S		No	ClinGen TOPMed
TCGA novel	529	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs535752275 CA7342673	530	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA390961344 rs1327227184	531	L>V		No	ClinGen TOPMed
rs370318541 CA7342675	537	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7342674 rs375650693	537	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA390961387 rs1224354031	538	I>V		No	ClinGen gnomAD
CA390961498 rs1419418246	542	H>L		No	ClinGen Ensembl
CA7342699 rs760611901	544	D>N		No	ClinGen ExAC gnomAD
rs1190528110 CA390961559	547	W>R		No	ClinGen TOPMed
rs1192076161 CA390961583	548	G>A		No	ClinGen gnomAD
rs1444902051 CA390961575	548	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA266751246 rs1005241159	551	I>V		No	ClinGen Ensembl
VAR_031721 CA266751247 rs17853154	552	H>N		No	ClinGen UniProt Ensembl dbSNP
CA7342700 rs770978329	552	H>Q		No	ClinGen ExAC gnomAD
CA390961625 rs1566935368	552	H>R		No	ClinGen Ensembl
CA390961631 rs1451167175	553	A>T		No	ClinGen gnomAD
rs1317289875 CA390961655	555	K>Q		No	ClinGen TOPMed gnomAD
rs763053686 CA7342702	556	S>F		No	ClinGen ExAC gnomAD
rs2250718 CA7342701 VAR_031722	556	S>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2250718 CA390961670	556	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	558	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751754763 CA7342704	561	C>S		No	ClinGen ExAC TOPMed gnomAD
rs761952770 CA7342705	561	C>Y		No	ClinGen ExAC gnomAD
rs547746983 CA390961767	563	H>P		No	ClinGen 1000Genomes ExAC gnomAD
CA7342706 rs547746983	563	H>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	564	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372044278 CA7342708	570	W>*		No	ClinGen ESP ExAC gnomAD
rs375349874 CA7342709	571	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA390961861 rs1360737562	572	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA266751331 rs889624634	574	G>C		No	ClinGen TOPMed gnomAD
CA390961877 rs889624634	574	G>S		No	ClinGen TOPMed gnomAD
CA390961903 rs1266665290	576	R>C		No	ClinGen gnomAD
CA7342711 rs200753382	576	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA266751365 rs150691576	577	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1261930229 CA390961916	577	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs150691576 CA7342712	577	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs376629514 CA390961920	578	V>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs376629514 CA7342714	578	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs376629514 CA7342715	578	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1475308914 CA390961956	580	D>G		No	ClinGen Ensembl
CA390961948 rs1242322204	580	D>N		No	ClinGen gnomAD
rs960911673 CA266751414	583	I>V		No	ClinGen gnomAD
rs757972076 CA7342734	585	D>E		No	ClinGen ExAC gnomAD
TCGA novel	587	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777532998 CA7342735	588	Q>P		No	ClinGen ExAC gnomAD
CA266753903 rs559063164	596	G>E		No	ClinGen 1000Genomes
CA7342737 rs757069320	597	S>C		No	ClinGen ExAC gnomAD
TCGA novel	597	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	600	A>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA266753918 rs765453294	600	A>T		No	ClinGen Ensembl
rs1396360918 CA390962153	600	A>V		No	ClinGen gnomAD
rs544803995 CA7342739	602	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1392499169 CA390962161 COSM3377329	602	G>R	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1396438133 CA390962177	604	L>R		No	ClinGen TOPMed
rs1441132851 CA390962173	604	L>V		No	ClinGen TOPMed
CA7342740 rs769606640	605	T>N		No	ClinGen ExAC TOPMed gnomAD
rs769606640 CA7342741	605	T>S		No	ClinGen ExAC TOPMed gnomAD
CA391150579 rs1424183623	611	F>Y		No	ClinGen TOPMed
CA7342764 rs776959049	612	D>N		No	ClinGen ExAC gnomAD
CA391150588 rs1391242505	612	D>V		No	ClinGen TOPMed
CA266520636 rs909830618	613	T>A		No	ClinGen TOPMed
CA7342765 rs759785929	615	T>A		No	ClinGen ExAC TOPMed gnomAD
CA391150610 rs1221795290	616	K>E		No	ClinGen gnomAD
rs371062416 CA7342766	616	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA7342768 rs763567379	617	D>N		No	ClinGen ExAC gnomAD
CA391150630 rs1185037385	619	V>I		No	ClinGen gnomAD
rs761460826 CA7342771	621	V>I		No	ClinGen ExAC TOPMed gnomAD
rs767048150 CA7342772	622	H>Q		No	ClinGen ExAC gnomAD
CA391150664 rs1270326922	624	D>G		No	ClinGen TOPMed
rs755817038 CA7342774	626	N>I		No	ClinGen ExAC gnomAD
rs753712572 CA7342776	627	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA391150681 COSM673829 rs753712572	627	E>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs200963903 CA7342777	629	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA391150708 rs200744722	631	V>I		No	ClinGen TOPMed gnomAD
CA266520691 rs200744722	631	V>L		No	ClinGen TOPMed gnomAD
CA7342780 rs200276967	632	M>T		No	ClinGen 1000Genomes ExAC gnomAD
CA391150723 rs781228383	633	R>L		No	ClinGen ExAC TOPMed gnomAD
rs781228383 CA7342781	633	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7342801 rs765125630	641	L>F		No	ClinGen ExAC gnomAD
CA7342802 rs371654215	647	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1166442754 CA391150841	648	N>T		No	ClinGen TOPMed
CA391150854 rs1330030730	650	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	654	G>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7342804 rs781342353	655	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA266529873 rs781342353	655	V>L		No	ClinGen ExAC TOPMed gnomAD
CA391150902 rs1268828039	657	D>N		No	ClinGen TOPMed
CA391150926 rs1211284094	660	R>K		No	ClinGen gnomAD
rs756353164 CA7342806	663	T>M		No	ClinGen ExAC gnomAD
CA391150973 rs1472698384	667	K>R		No	ClinGen gnomAD
CA7342808 rs749641115	669	S>L		No	ClinGen ExAC gnomAD
TCGA novel	672	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1344938182 CA391151032	674	F>V		No	ClinGen gnomAD
rs759196249 CA7342835	675	I>M		No	ClinGen ExAC gnomAD
CA7342836 rs143172203	676	T>A		No	ClinGen ESP ExAC gnomAD
rs1450662564 CA391151047	676	T>S		No	ClinGen TOPMed gnomAD
CA391151106 rs1296339723	685	Q>E		No	ClinGen TOPMed
rs762714465 CA7342838	685	Q>H		No	ClinGen ExAC gnomAD
rs775260577 CA7342837	685	Q>R		No	ClinGen ExAC gnomAD
CA391151118 rs1446160952	686	F>L		No	ClinGen TOPMed
CA7342841 rs373460692	688	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7342840 rs373460692	688	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391151154 rs1160293832	692	G>E		No	ClinGen TOPMed
rs1431577345 CA391151151	692	G>R		No	ClinGen TOPMed gnomAD
TCGA novel	692	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391151158 rs1161726419	693	D>Y		No	ClinGen gnomAD
rs755251254 CA266530144	694	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA7342843 rs754048368	694	Y>F		No	ClinGen ExAC gnomAD
COSM2261728 rs779340798 CA7342845	695	E>K	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	696	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1595509583 CA391151187	697	L>F		No	ClinGen Ensembl
rs1244832390 CA391151222	700	V>F		No	ClinGen gnomAD
CA391151220 rs1244832390	700	V>I		No	ClinGen gnomAD
CA7342864 rs752896428	701	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7342865 rs370882254	704	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	706	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs975934684 CA266531611	707	V>I		No	ClinGen gnomAD
CA391151266 rs975934684	707	V>L		No	ClinGen gnomAD
rs1465386711 CA391151271	708	V>I		No	ClinGen TOPMed
CA391151281 rs1255301684	709	S>T		No	ClinGen gnomAD
rs757753739 CA7342868	710	V>A		No	ClinGen ExAC gnomAD
TCGA novel	710	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781706468 CA7342869	711	E>A		No	ClinGen ExAC TOPMed gnomAD
CA391151294 rs781706468	711	E>V		No	ClinGen ExAC TOPMed gnomAD
CA266531632 rs778261677	712	T>S		No	ClinGen Ensembl
CA391151304 rs1193399520	713	T>A		No	ClinGen TOPMed
CA391151307 rs1478764824	713	T>I		No	ClinGen TOPMed
CA391151309 rs1472367834	714	R>*		No	ClinGen gnomAD
TCGA novel	715	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1030194965 CA266531633	717	E>A		No	ClinGen TOPMed gnomAD
rs1030194965 CA391151334	717	E>G		No	ClinGen TOPMed gnomAD
CA391151344 rs1468505267	718	W>C		No	ClinGen gnomAD
CA7342871 rs769332840	729	V>I		No	ClinGen ExAC TOPMed gnomAD
CA391151540 rs1566949789	732	V>L		No	ClinGen Ensembl
CA391151570 rs1384766187	736	G>D		No	ClinGen TOPMed gnomAD
rs1384766187 CA391151572	736	G>V		No	ClinGen TOPMed gnomAD
rs200052726 CA7342888 COSM949274	737	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA7342891 rs748895684	739	G>R		No	ClinGen ExAC TOPMed gnomAD
CA391151592 rs1212267323	740	T>A		No	ClinGen TOPMed
CA7342894 rs747925583	742	I>F		No	ClinGen ExAC gnomAD
rs772026903 CA7342895	743	N>D		No	ClinGen ExAC TOPMed gnomAD
CA7342896 rs773238153	743	N>S		No	ClinGen ExAC gnomAD
TCGA novel	744	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA266532547 rs753296372 COSM1128337	745	V>I	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs756665522 CA266532552	746	C>S		No	ClinGen gnomAD
CA7342898 rs148400435	747	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA7342901 rs763147507	747	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7342900 rs763147507 COSM265441	747	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7342899 rs148400435	747	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA391151646 rs1566949911	749	H>Q		No	ClinGen Ensembl
rs139856422 RCV000954983 CA7342904	749	H>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs762125675 CA7342903	749	H>Y		No	ClinGen ExAC gnomAD
rs562625419 CA7342905	750	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA7342906 rs576268658	751	K>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391151663 rs1367881543	752	K>E		No	ClinGen gnomAD
CA391151665 rs201021106	752	K>R		No	ClinGen ExAC TOPMed gnomAD
rs201021106 CA7342907	752	K>T		No	ClinGen ExAC TOPMed gnomAD
rs967391724 CA266532606	758	D>N		No	ClinGen TOPMed
COSM84267 CA7342910 rs778393782	759	D>N	Variant assessed as Somatic; 0.0 impact. pancreas endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1320061161 CA391151717	760	F>C		No	ClinGen gnomAD
rs747829508 CA7342911	765	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1489609242 CA391151782	769	P>L		No	ClinGen gnomAD
TCGA novel	769	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7342912 COSM949276 rs758206081	770	C>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7342914 rs746865287	771	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1391467270 CA391151795	772	Q>K		No	ClinGen gnomAD
CA7342916 rs776678602	772	Q>R		No	ClinGen ExAC gnomAD
CA7342917 rs749295111	773	F>L		No	ClinGen ExAC gnomAD
CA266532637 rs999958489	774	R>M		No	ClinGen gnomAD
CA7342939 rs772260740	776	P>L		No	ClinGen ExAC gnomAD
rs1330088045 CA391151839	777	S>G		No	ClinGen TOPMed gnomAD
CA7342940 rs151004612	779	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA391151864 rs1442317256	780	Y>C		No	ClinGen gnomAD
rs776949763 CA7342943	781	G>S		No	ClinGen ExAC TOPMed gnomAD
rs369564518 CA266533581 COSM1371958 CA7342945	782	G>R	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD NCI-TCGA
CA266533590 rs902750831	783	H>D		No	ClinGen Ensembl
rs1566950568 CA391151884	783	H>Q		No	ClinGen Ensembl
CA391151888 rs1250556824	784	S>N		No	ClinGen gnomAD
CA391151889 rs1250556824	784	S>T		No	ClinGen gnomAD
CA391151894 rs1413178013	785	S>G		No	ClinGen TOPMed
TCGA novel	786	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA266533598 rs979958705	787	V>F		No	ClinGen gnomAD
CA391151909 rs979958705	787	V>I		No	ClinGen gnomAD
CA391151924 rs1160068688	789	N>S		No	ClinGen gnomAD
rs957277200 CA266533610	790	V>A		No	ClinGen TOPMed gnomAD
CA266533606 rs1034630974	790	V>I		No	ClinGen Ensembl
rs147904150 CA7342946	791	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs762598407 CA7342947	792	F>C		No	ClinGen ExAC gnomAD
CA7342949 rs141606780	794	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1566950637 CA391151969	796	D>N		No	ClinGen Ensembl
CA7342950 rs756953819	797	S>N	Variant assessed as Somatic; 0.0003258 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7342951 rs781052964	798	H>Y		No	ClinGen ExAC TOPMed
CA391151996 rs1411945221	800	I>V		No	ClinGen gnomAD
TCGA novel	801	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7342952 rs150426019	802	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA7342955 rs748197062	804	G>R		No	ClinGen ExAC TOPMed gnomAD
CA391152056 rs1340697783	809	I>V		No	ClinGen gnomAD
rs1039863595 CA266533712 CA391152067	810	M>I		No	ClinGen TOPMed gnomAD
rs772174519 CA7342956 COSM199359	813	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs138177688 CA7342957	813	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA7342960 rs201298677	814	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1477542209 CA391152096	815	I>V		No	ClinGen TOPMed gnomAD
rs199886354 CA266533760	816	I>E		No	ClinGen Ensembl

1 associated diseases with O00423

[MIM: 600348]: Band heterotopia (BH)

A brain malformation of the lissencephaly spectrum, resulting from disordered neuronal migration and characterized by bands of gray matter interposed in the central white matter. Disease features include severe developmental delay with intellectual disability, enlarged head circumference, periventricular and ribbon-like subcortical heterotopia, polymicrogyria and agenesis of the corpus callosum. {ECO:0000269|PubMed:24859200, ECO:0000269|PubMed:28556411}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A brain malformation of the lissencephaly spectrum, resulting from disordered neuronal migration and characterized by bands of gray matter interposed in the central white matter. Disease features include severe developmental delay with intellectual disability, enlarged head circumference, periventricular and ribbon-like subcortical heterotopia, polymicrogyria and agenesis of the corpus callosum. {ECO:0000269|PubMed:24859200, ECO:0000269|PubMed:28556411}. Note=The disease is caused by variants affecting the gene represented in this entry.

5 regional properties for O00423

Type	Name	Position	InterPro Accession
conserved_site	ATP-dependent RNA helicase DEAD-box, conserved site	227 - 235	IPR000629
domain	Helicase, C-terminal	292 - 456	IPR001650
domain	DEAD/DEAH box helicase domain	101 - 268	IPR011545
domain	Helicase superfamily 1/2, ATP-binding domain	96 - 296	IPR014001
domain	RNA helicase, DEAD-box type, Q motif	77 - 105	IPR014014

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cytoplasm, perinuclear region Cytoplasm, cytoskeleton	Detected in cytoplasmic punctae Co-localizes with microtubules (PubMed:24859200, PubMed:25740311) Enriched in perinuclear regions during interphase and in the region of spindle microtubules during metaphase Enriched at the midzone during telophase and cytokinesis Detected at growth cones in neurons (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
microtubule	Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle.
microtubule associated complex	Any multimeric complex connected to a microtubule.
mitotic spindle midzone	The area in the center of the anaphase spindle consisting of microtubules, microtubule bundling factors and kinesin motors where the spindle microtubules from opposite poles overlap in an antiparallel manner.
mitotic spindle pole	Either of the ends of a mitotic spindle, a spindle that forms as part of mitosis, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.

3 GO annotations of molecular function

Name	Definition
calcium ion binding	Binding to a calcium ion (Ca2+).
microtubule binding	Binding to a microtubule, a filament composed of tubulin monomers.
tubulin binding	Binding to monomeric or multimeric forms of tubulin, including microtubules.

5 GO annotations of biological process

Name	Definition
brain development	The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.).
hematopoietic progenitor cell differentiation	The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells.
microtubule 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 comprising microtubules and their associated proteins.
mitotic spindle organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the microtubule spindle during a mitotic cell cycle.
neuroblast proliferation	The expansion of a neuroblast population by cell division. A neuroblast is any cell that will divide and give rise to a neuron.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9VUI3	DCX-EMAP	Echinoderm microtubule-associated protein-like CG42247	Drosophila melanogaster (Fruit fly)	PR
Q96MT7	CFAP44	Cilia- and flagella-associated protein 44	Homo sapiens (Human)	PR

10	20	30	40	50	60
MEDGFSSYSS	LYDTSSLLQF	CNDDSASAAS	SMEVTDRIAS	LEQRVQMQED	DIQLLKSALA
70	80	90	100	110	120
DVVRRLNITE	EQQAVLNRKG	PTKARPLMQT	LPLRTTVNNG	TVLPKKPTGS	LPSPSGVRKE
130	140	150	160	170	180
TAVPATKSNI	KRTSSSERVS	PGGRRESNGD	SRGNRNRTGS	TSSSSSGKKN	SESKPKEPVF
190	200	210	220	230	240
SAEEGYVKMF	LRGRPVTMYM	PKDQVDSYSL	EAKVELPTKR	LKLEWVYGYR	GRDCRNNLYL
250	260	270	280	290	300
LPTGETVYFI	ASVVVLYNVE	EQLQRHYAGH	NDDVKCLAVH	PDRITIATGQ	VAGTSKDGKQ
310	320	330	340	350	360
LPPHVRIWDS	VTLNTLHVIG	IGFFDRAVTC	IAFSKSNGGT	NLCAVDDSND	HVLSVWDWQK
370	380	390	400	410	420
EEKLADVKCS	NEAVFAADFH	PTDTNIIVTC	GKSHLYFWTL	EGSSLNKKQG	LFEKQEKPKF
430	440	450	460	470	480
VLCVTFSENG	DTITGDSSGN	ILVWGKGTNR	ISYAVQGAHE	GGIFALCMLR	DGTLVSGGGK
490	500	510	520	530	540
DRKLISWSGN	YQKLRKTEIP	EQFGPIRTVA	EGKGDVILIG	TTRNFVLQGT	LSGDFTPITQ
550	560	570	580	590	600
GHTDELWGLA	IHASKSQFLT	CGHDKHATLW	DAVGHRPVWD	KIIEDPAQSS	GFHPSGSVVA
610	620	630	640	650	660
VGTLTGRWFV	FDTETKDLVT	VHTDGNEQLS	VMRYSPDGNF	LAIGSHDNCI	YIYGVSDNGR
670	680	690	700	710	720
KYTRVGKCSG	HSSFITHLDW	SVNSQFLVSN	SGDYEILYWV	PSACKQVVSV	ETTRDIEWAT
730	740	750	760	770	780
YTCTLGFHVF	GVWPEGSDGT	DINAVCRAHE	KKLLSTGDDF	GKVHLFSYPC	SQFRAPSHIY
790	800	810
GGHSSHVTNV	DFLCEDSHLI	STGGKDTSIM	QWRVI