AiPD: Autoinhibited Protein Database

Q13948

Gene name	CUX1 (CUTL1)
Protein name	Protein CASP
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1523
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

295-368 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

295-368 (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 Q13948

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q13948-F1	Predicted				AlphaFoldDB

491 variants for Q13948

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000757901 CA368899969 rs1562875556	21	Q>*	Global developmental delay with or without impaired intellectual development [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs782042708 CA4410424 RCV001328803	103	V>A	Global developmental delay with or without impaired intellectual development [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001266597 rs1554549073	599	P>L	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
CA368681977 RCV001331818 VAR_036286 COSM110862 rs1287689842	609	R>C	large_intestine Global developmental delay with or without impaired intellectual development a colorectal cancer sample; somatic mutation [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP
rs769148134 CA4410272	3	A>V		No	ClinGen ExAC gnomAD
CA4410273 rs772940813	4	N>S		No	ClinGen ExAC TOPMed gnomAD
CA4410274 rs748916298	5	V>A		No	ClinGen ExAC gnomAD
CA368899861 rs1351266529	6	G>A		No	ClinGen gnomAD
rs1164370058 CA368899857	6	G>R		No	ClinGen TOPMed
rs200925347 CA4410275	9	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1219523928 CA368899913	13	K>R		No	ClinGen TOPMed gnomAD
CA4410276 rs775827401	14	R>L		No	ClinGen ExAC gnomAD
rs1470530688 CA368899950	18	Q>R		No	ClinGen gnomAD
rs1239126331 CA368899955	19	Q>E		No	ClinGen TOPMed
CA368899958 rs1584616402	19	Q>P		No	ClinGen Ensembl
rs1177297232 CA368909324	22	R>G		No	ClinGen TOPMed
CA163802514 rs140709702	22	R>S		No	ClinGen ESP
rs756778760 CA4410329	25	D>N		No	ClinGen ExAC gnomAD
rs778368760 CA4410330	26	A>G		No	ClinGen ExAC gnomAD
COSM243917 rs867880450 COSM243918 CA163802515	28	A>T	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA368909469 rs1376583186	29	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA368909467 rs1376583186	29	T>S		No	ClinGen gnomAD
CA4410333 rs779702615	32	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1280730199 CA368909538	34	R>Q		No	ClinGen gnomAD
rs778447580 CA4410336	36	D>E		No	ClinGen ExAC gnomAD
CA4410339 rs200309302	44	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA163802516 COSM3662811 rs771176824 COSM3662810	44	R>W	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM1083447 rs1404930496 COSM1083446 CA368909892	47	E>K	large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA4410341 rs772195790	48	Q>*		No	ClinGen ExAC gnomAD
CA368910035 rs1201682206	50	R>W		No	ClinGen gnomAD
CA368910100 rs1584970734	52	F>V		No	ClinGen Ensembl
rs748511869 CA4410342	54	K>N		No	ClinGen ExAC TOPMed gnomAD
CA163802517 rs760414074	55	N>S		No	ClinGen ExAC gnomAD
CA4410343 rs760414074	55	N>T		No	ClinGen ExAC gnomAD
CA368910169 rs1305374736	55	N>Y		No	ClinGen TOPMed
CA4410345 rs149191757	56	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA4410346 rs761704472	57	P>L		No	ClinGen ExAC gnomAD
CA368909810 rs1253387040	62	K>N		No	ClinGen TOPMed
rs143267032 CA4410374	65	A>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA368909900 rs1213438024	66	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs989872151 CA163815733	70	S>G		No	ClinGen TOPMed
CA368904443 rs1173048193	75	I>T		No	ClinGen gnomAD
CA368904601 rs1361406242	86	E>G		No	ClinGen gnomAD
rs1397038203 CA368904686	91	N>K		No	ClinGen gnomAD
CA163819970 rs915704529	93	Y>C		No	ClinGen TOPMed gnomAD
CA4410393 rs367586602	94	K>R		No	ClinGen ESP ExAC
CA4410396 COSM3698069 RCV000880414 rs148322402 COSM3698070	99	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs148322402 CA163819971	99	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554484561 CA368910793	101	D>E		No	ClinGen gnomAD
CA4410423 rs782382132	103	V>I		No	ClinGen ExAC TOPMed gnomAD
CA368910813 rs1585655117	104	P>S		No	ClinGen Ensembl
rs1554484571 CA368910833	105	A>T		No	ClinGen gnomAD
rs782151315 CA4410425	107	D>E		No	ClinGen ExAC gnomAD
CA4410427 rs781786123	109	G>R		No	ClinGen ExAC gnomAD
rs1554484585 CA368910961	110	Q>*		No	ClinGen gnomAD
CA368910977 rs1360636170	111	Q>E		No	ClinGen TOPMed gnomAD
CA368910997 rs1554484593	111	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4410428 rs782089593	112	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1554484601 CA368911023	113	Q>K		No	ClinGen gnomAD
CA163822400 rs779056805	114	L>F		No	ClinGen Ensembl
CA4410431 rs782504553	116	V>L		No	ClinGen ExAC gnomAD
CA4410432 rs782680467	118	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs781883497 CA4410433	118	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1442207312 CA368911252	120	H>R		No	ClinGen TOPMed
CA368911271 rs1554484627	121	D>G		No	ClinGen gnomAD
rs782612569 CA4410435	121	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA163822401 rs201537465	124	T>R		No	ClinGen Ensembl
CA163822402 rs77240477	125	E>A		No	ClinGen Ensembl
rs1554484634 CA368911455	129	L>F		No	ClinGen gnomAD
rs1042943750 CA163822403	131	E>K		No	ClinGen TOPMed
rs1585655648 CA368911514	132	T>A		No	ClinGen Ensembl
CA163822404 rs903050299	135	E>D		No	ClinGen TOPMed
CA368911586 rs1563237108	135	E>K		No	ClinGen Ensembl
rs1202856478 CA368911733	140	F>L		No	ClinGen TOPMed gnomAD
rs1554484673 CA368911776	141	A>V		No	ClinGen gnomAD
CA4410436 rs782020138	142	E>K		No	ClinGen ExAC TOPMed gnomAD
rs371126154 CA4410437	143	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554487665 CA368664588	148	V>F		No	ClinGen gnomAD
CA368664600 rs1554487668	149	T>A		No	ClinGen gnomAD
CA163386490 rs964557562	149	T>M		No	ClinGen TOPMed gnomAD
rs782204757 CA4410477	152	A>T		No	ClinGen ExAC gnomAD
rs1554487679 CA368664647	152	A>V		No	ClinGen gnomAD
rs1259786401 CA368664661	154	K>Q		No	ClinGen TOPMed
rs1554487690 CA368664731	157	I>V		No	ClinGen gnomAD
COSM1083450 rs782297523 COSM1083451 CA4410480	158	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs759477180 CA163386538	158	R>Q		No	ClinGen TOPMed gnomAD
rs781933967 CA4410482	159	E>A		No	ClinGen ExAC gnomAD
rs782049592 CA4410483	164	L>P		No	ClinGen ExAC gnomAD
CA4410484 rs782733759	168	A>D		No	ClinGen ExAC gnomAD
CA368664964 rs868936218	168	A>S		No	ClinGen Ensembl
CA4410486 rs138328289	169	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554487735 CA368665030	171	I>T		No	ClinGen gnomAD
rs1331088960 CA368665021	171	I>V		No	ClinGen TOPMed
rs199800281 CA4410487	173	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA4410488 rs781895519	174	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1554487746 CA368665080	175	K>R		No	ClinGen gnomAD
CA368665103 rs1554487751	177	Q>E		No	ClinGen gnomAD
rs1554487751 CA368665100	177	Q>K		No	ClinGen gnomAD
rs1585691426 CA368665156	181	N>T		No	ClinGen Ensembl
rs767604852 CA163386588	182	D>G		No	ClinGen Ensembl
rs1554487763 CA368665166	182	D>Y		No	ClinGen gnomAD
CA368665248 rs1382984184	187	E>G		No	ClinGen TOPMed gnomAD
rs201993734 CA4410517	192	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs142863665 CA4410515	192	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs782638309 CA4410518	194	Q>H		No	ClinGen ExAC gnomAD
CA368665974 rs1381093508	195	M>I		No	ClinGen TOPMed
CA368666013 rs1408874096	198	T>I		No	ClinGen TOPMed gnomAD
CA368666010 rs1408874096	198	T>N		No	ClinGen TOPMed gnomAD
rs782419510 CA368666087	204	A>P		No	ClinGen ExAC TOPMed gnomAD
rs782419510 CA4410520	204	A>T		No	ClinGen ExAC TOPMed gnomAD
rs782582750 CA4410522	206	H>P		No	ClinGen ExAC gnomAD
rs782582750 CA4410521	206	H>R		No	ClinGen ExAC gnomAD
rs917732498 CA163389203	206	H>Y		No	ClinGen TOPMed
rs199535463 CA368666143	207	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1554490168 CA368666145	208	V>I		No	ClinGen gnomAD
rs781955653 CA4410524	210	S>R		No	ClinGen ExAC gnomAD
rs1554490173 CA368666235	212	Q>L		No	ClinGen gnomAD
rs1554490173 CA368666233	212	Q>R		No	ClinGen gnomAD
CA368666244 rs1554490175	213	T>K		No	ClinGen gnomAD
CA163390638 rs75508780	216	E>*		No	ClinGen ExAC gnomAD
CA4410541 rs75508780	216	E>K		No	ClinGen ExAC gnomAD
rs1467258522 CA368667579	217	K>I		No	ClinGen TOPMed gnomAD
COSM223188 COSM223189 CA4410542 rs782288993	219	R>*	Variant assessed as Somatic; 0.0 impact. skin endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA4410543 rs187519642 RCV000958953	219	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA368667640 rs1554491410	221	E>K		No	ClinGen gnomAD
CA368667679 rs1162618237	223	F>C		No	ClinGen TOPMed
rs1554491419 CA368667688	224	D>N		No	ClinGen gnomAD
CA368667700 rs1554491422	224	D>V		No	ClinGen gnomAD
rs139126094 CA4410547	225	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1699090 rs782816778 COSM1699091 CA4410549	230	D>N	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA368667800 rs1199931846	230	D>V		No	ClinGen TOPMed
CA368667906 rs1585743976	236	K>E		No	ClinGen Ensembl
rs782292066 CA4410580	237	A>T		No	ClinGen ExAC TOPMed gnomAD
CA368676899 rs782176740 CA4410583	238	D>E		No	ClinGen ExAC TOPMed gnomAD
CA4410582 rs782595351	238	D>N		No	ClinGen ExAC gnomAD
rs1554506030 CA368676950	240	I>M		No	ClinGen gnomAD
CA4410584 rs528098005	243	I>V		No	ClinGen 1000Genomes ExAC gnomAD
COSM598069 COSM598068 CA4410585 rs372003626	245	T>M	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1554506041 CA368677112	247	L>F		No	ClinGen gnomAD
CA368677137 rs1554506048	248	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs782381059 CA4410587	248	E>V		No	ClinGen ExAC gnomAD
rs782141090 CA368677255	251	N>K		No	ClinGen ExAC TOPMed gnomAD
rs782373542 CA4410610	254	A>G		No	ClinGen ExAC gnomAD
CA368664518 rs782019916	255	E>D		No	ClinGen ExAC gnomAD
CA368664521 rs1554510062	256	V>L		No	ClinGen gnomAD
rs1554510062 CA368664519	256	V>M		No	ClinGen gnomAD
COSM1083456 COSM1083457 CA368664534 rs1554510072	258	Q>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA368664542 rs1554510075	259	R>K		No	ClinGen gnomAD
rs1029919361 CA163389216 COSM1446850 COSM1446849	261	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1554510081 CA368664568	262	E>D		No	ClinGen gnomAD
CA4410615 rs189334175	269	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4410616 rs782797697	270	S>L		No	ClinGen ExAC TOPMed gnomAD
CA368664692 rs1554510093	271	A>T		No	ClinGen gnomAD
CA368664724 rs139855321	272	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs139855321 CA4410619	272	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs139855321 CA4410620	272	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA368664739 rs1554510100	273	H>N		No	ClinGen gnomAD
rs1554510101 CA368664752	273	H>Q		No	ClinGen gnomAD
rs1554510110 CA368664840	278	A>P		No	ClinGen gnomAD
CA368664839 rs1554510110	278	A>T		No	ClinGen gnomAD
CA368664854 rs1554510115	279	S>T		No	ClinGen gnomAD
CA368664907 rs1554510121	281	I>T		No	ClinGen gnomAD
CA163389230 rs910023535	284	A>E		No	ClinGen Ensembl
CA4410622 rs563766526	287	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368666728 rs1554512681	289	Q>P		No	ClinGen gnomAD
rs1586067214 CA368666746	290	A>D		No	ClinGen Ensembl
rs1222345026 CA368666740	290	A>T		No	ClinGen TOPMed
rs200126349 CA368666755	291	I>L		No	ClinGen 1000Genomes TOPMed
CA368666760 rs1225813033	291	I>T		No	ClinGen TOPMed gnomAD
rs200126349 CA163392529	291	I>V		No	ClinGen 1000Genomes TOPMed
CA4410647 rs782373368	293	V>M		No	ClinGen ExAC gnomAD
CA163392531 rs965075452	294	L>P		No	ClinGen Ensembl
rs782041261 CA4410648	295	T>I		No	ClinGen ExAC gnomAD
rs1586067362 CA368666802	295	T>P		No	ClinGen Ensembl
CA4410651 rs781913263	296	R>C		No	ClinGen ExAC TOPMed gnomAD
CA4410652 rs782096679	296	R>H		No	ClinGen ExAC TOPMed gnomAD
rs372334618 CA163392551	299	L>V		No	ClinGen ESP
rs782723864 CA4410653	301	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs527348720 CA163392554	302	E>Q		No	ClinGen 1000Genomes TOPMed gnomAD
rs1586067642 CA368666915	303	L>W		No	ClinGen Ensembl
CA4410655 rs782110833	305	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1554512750 CA368666956	306	K>R		No	ClinGen gnomAD
rs782801030 CA4410656	307	E>D		No	ClinGen ExAC TOPMed gnomAD
rs376319241 CA368666978	308	R>G		No	ClinGen ESP ExAC gnomAD
rs782751181 CA4410659	308	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs376319241 CA4410658	308	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs542765617 CA4410661	310	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4410662 rs782640938	311	A>T		No	ClinGen ExAC TOPMed gnomAD
rs782298488 CA4410663	311	A>V		No	ClinGen ExAC gnomAD
rs1461376733 CA368667038	312	Q>R		No	ClinGen TOPMed
rs1264313697 CA368667058	314	V>L		No	ClinGen TOPMed
CA368667074 rs1554512788	315	E>G		No	ClinGen gnomAD
rs142950109 CA368667104	317	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs142950109 CA4410665	317	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs782169374 CA4410666	318	Q>K		No	ClinGen ExAC gnomAD
rs1554512806 CA368667120	318	Q>R		No	ClinGen gnomAD
rs560991793 CA368667140	319	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368667160 rs1554512809	321	Q>R		No	ClinGen gnomAD
CA4410668 rs369666651	323	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA368667183 rs369666651	323	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs782261753 CA4410669	324	L>F		No	ClinGen ExAC TOPMed gnomAD
RCV001037220 CA4410671 rs367848953	325	T>I		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA368667212 rs367848953	325	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA4410674 rs781968348	328	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4410673 rs782312716	328	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA368667291 rs1383544162	331	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1353825933 CA368667313	333	S>G		No	ClinGen TOPMed
rs1554512856 CA368667353	335	I>F		No	ClinGen Ensembl
rs1554512862 CA368667370	336	S>A		No	ClinGen gnomAD
CA368667369 rs1554512862	336	S>P		No	ClinGen gnomAD
CA368667388 rs1554512865	337	Q>R		No	ClinGen gnomAD
rs1554512868 CA368667434	340	Q>H		No	ClinGen gnomAD
rs1170949898 CA368667438	341	Q>E		No	ClinGen TOPMed
rs201709857 CA4410681	344	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA368667557 rs1554512885	348	T>A		No	ClinGen gnomAD
CA368667605 rs1554512894	350	K>R		No	ClinGen gnomAD
rs1554516459 CA368670337	355	K>N		No	ClinGen gnomAD
CA368670369 rs1418723802	358	G>D		No	ClinGen TOPMed gnomAD
CA368670373 rs1418723802	358	G>V		No	ClinGen TOPMed gnomAD
rs781929112 CA4410714	364	E>K		No	ClinGen ExAC gnomAD
CA4410715 rs782222046	368	E>D		No	ClinGen ExAC gnomAD
CA4410716 rs782332181	370	N>S		No	ClinGen ExAC gnomAD
CA368671018 rs1279598269	371	I>V		No	ClinGen TOPMed gnomAD
rs782374350 CA4410738	375	M>T		No	ClinGen ExAC gnomAD
CA368671135 rs1554517604	377	F>L		No	ClinGen gnomAD
rs141118279 CA4410739	379	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1083461 CA368671188 rs1296911842 COSM1083460	380	S>P	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA4410741 rs782320090 COSM743498	381	E>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1554517620 CA368671233	382	G>D		No	ClinGen gnomAD
rs782084566 CA4410743	383	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1451639335 CA368671258	384	G>R		No	ClinGen TOPMed
CA4410744 rs782780874	385	T>I		No	ClinGen ExAC gnomAD
CA368671303 rs1563382933	386	Q>H		No	ClinGen Ensembl
rs781991579 CA4410745	386	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA368671296 rs781991579	386	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA368672596 rs1554517985	387	D>Y		No	ClinGen gnomAD
CA368672612 rs1554517991	389	A>D		No	ClinGen gnomAD
rs868971262 CA368672608	389	A>T		No	ClinGen gnomAD
CA4410772 rs782447962	390	K>Q		No	ClinGen ExAC gnomAD
CA368672617 rs1554517999	390	K>R		No	ClinGen Ensembl
CA368672621 rs1265156253	391	P>T		No	ClinGen TOPMed
rs1563385953 CA368672633	393	E>Q		No	ClinGen Ensembl
CA368672640 rs781872768	394	V>L		No	ClinGen ExAC gnomAD
CA4410774 rs781872768	394	V>M		No	ClinGen ExAC gnomAD
rs1554518016 CA368672648	395	L>P		No	ClinGen gnomAD
CA368672649 rs1554518016	395	L>R		No	ClinGen gnomAD
CA4410776 rs782684624	397	L>M		No	ClinGen ExAC TOPMed gnomAD
CA4410777 rs782285275	398	E>G		No	ClinGen ExAC gnomAD
COSM1725884 CA368672680 COSM1725885 rs1554518026	400	N>S	liver [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1554518036 CA368672687	401	R>H		No	ClinGen gnomAD
CA368672684 rs1554518033	401	R>S		No	ClinGen gnomAD
rs1336338600 CA368672694	402	S>L		No	ClinGen TOPMed gnomAD
rs782575543 CA4410779	402	S>T		No	ClinGen ExAC gnomAD
rs782348853 CA4410781	404	Q>R		No	ClinGen ExAC gnomAD
CA4410782 rs781992928	405	S>P		No	ClinGen ExAC TOPMed gnomAD
CA368672724 rs1554518050	407	N>S		No	ClinGen gnomAD
CA368672734 rs1326278580	409	A>T		No	ClinGen TOPMed gnomAD
rs374021528 COSM1202708 CA4410785 COSM1202709	409	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA163400419 rs371301313	411	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs781840265 COSM243920 COSM243921 CA4410789	411	R>H	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4410788 rs781840265	411	R>P		No	ClinGen ExAC TOPMed gnomAD
CA368672758 rs1184603213	413	S>C		No	ClinGen TOPMed
CA368672774 rs782775542	415	S>R		No	ClinGen ExAC gnomAD
CA368672778 rs1431898972	416	D>A		No	ClinGen TOPMed
rs781899952 CA368672776	416	D>H		No	ClinGen ExAC gnomAD
COSM319747 rs781899952 COSM319746 CA4410791	416	D>N	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA368672780 rs1431898972	416	D>V		No	ClinGen TOPMed
CA368672791 rs1554518078	418	S>N		No	ClinGen gnomAD
rs782171972 CA4411577	420	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA368675997 rs1554546733	420	R>H		No	ClinGen gnomAD
rs62001055 CA4411578	422	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs62001055 CA4411579	422	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1292452995 CA368676097	424	L>P		No	ClinGen TOPMed
CA4411582 rs781854907	427	R>C		No	ClinGen ExAC TOPMed gnomAD
CA4411583 rs372464298	427	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs372464298 CA163413274	427	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs782656324 CA4411584	428	I>M		No	ClinGen ExAC gnomAD
CA4411585 rs781900691	429	T>A		No	ClinGen ExAC gnomAD
CA163413283 rs782760262	430	E>K		No	ClinGen TOPMed
CA368676253 rs1554546773	432	V>G		No	ClinGen gnomAD
CA4411586 rs114381819	434	T>P		No	ClinGen ExAC gnomAD
CA4411587 rs139906438	435	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554546778 CA368676314	436	T>A		No	ClinGen gnomAD
rs1554546778 CA368676316	436	T>P		No	ClinGen gnomAD
rs1554546790 CA368676349	437	E>D		No	ClinGen gnomAD
rs1296544997 CA368676331	437	E>K		No	ClinGen TOPMed
rs1554546796 CA368676407	440	E>G		No	ClinGen gnomAD
CA4411589 rs782346338	440	E>Q		No	ClinGen ExAC gnomAD
rs371828253 CA4411590	441	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4411593 rs781925170	443	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4411594 rs145765083	444	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375278390 CA4411595	444	R>H		No	ClinGen ExAC TOPMed gnomAD
CA368676479 rs375278390	444	R>L		No	ClinGen ExAC TOPMed gnomAD
CA368676515 rs1586518557	446	E>G		No	ClinGen Ensembl
CA368676576 rs781967654	448	D>E		No	ClinGen ExAC TOPMed gnomAD
CA4411597 rs782118847	450	S>I		No	ClinGen ExAC
CA4411598 rs782770399	451	I>N		No	ClinGen ExAC gnomAD
rs1554546813 CA368676644	452	I>T		No	ClinGen gnomAD
rs782158617 CA4411600	453	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1563524845 CA368676698	454	S>C		No	ClinGen Ensembl
CA4411601 rs782702891	455	I>F		No	ClinGen ExAC gnomAD
rs781805496 CA4411602	455	I>M		No	ClinGen ExAC gnomAD
rs1428575402 CA368676740	456	Q>H		No	ClinGen TOPMed gnomAD
rs782468206 CA4411603	457	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1554546829 CA368676743	457	R>W		No	ClinGen gnomAD
rs1490786561 CA368676781	459	D>G		No	ClinGen TOPMed gnomAD
rs781847411 CA4411605 COSM1446867	459	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4411606 rs782554902	460	A>D		No	ClinGen ExAC gnomAD
rs782181844 CA4411608	461	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4411638 rs782314537	462	G>S		No	ClinGen ExAC TOPMed gnomAD
rs781943034 CA4411639	462	G>V		No	ClinGen ExAC gnomAD
CA368677087 rs1423431258	463	A>D		No	ClinGen TOPMed gnomAD
rs368235304 CA4411642	464	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA4411641 VAR_024923 rs803064	464	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4411643 rs368235304	464	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1456048550 CA368677117	465	E>K		No	ClinGen TOPMed
CA368677176 CA368677182 rs1264637054	466	H>Q		No	ClinGen TOPMed gnomAD
rs144199298 CA4411644	467	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4411645 rs146554363	467	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4411646 rs146554363	467	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781817976 CA4411648	469	E>D		No	ClinGen ExAC TOPMed gnomAD
rs782584087 CA4411647	469	E>K		No	ClinGen ExAC gnomAD
rs1554547093 CA368677259	470	K>E		No	ClinGen gnomAD
rs199558313 CA163413927	477	E>A		No	ClinGen 1000Genomes
CA368677480 rs1554547099	478	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA163413936 rs947975098	479	T>A		No	ClinGen Ensembl
CA163413939 rs140386892	479	T>S		No	ClinGen ESP
CA368677580 rs1377616487	483	Y>C		No	ClinGen TOPMed gnomAD
CA4411650 rs782620018	484	G>R		No	ClinGen ExAC TOPMed gnomAD
CA4411674 rs782238034	486	A>V		No	ClinGen ExAC gnomAD
VAR_036285	490	S>G	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
rs199776060 CA368678001	490	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1393831075 CA368677980	490	S>R		No	ClinGen TOPMed
CA4411676 rs150976222	491	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA4411678 rs782418565	491	G>D		No	ClinGen ExAC gnomAD
rs150976222 CA4411677	491	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4411679 rs782418565	491	G>V		No	ClinGen ExAC gnomAD
COSM1083480 CA368678050 rs1380312537	492	A>V	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1554547462 CA368678062	493	L>I		No	ClinGen gnomAD
CA368678080 rs1238810351	493	L>R		No	ClinGen TOPMed
rs371715592 CA163414654	495	E>D		No	ClinGen ESP gnomAD
CA4411682 rs781963446	498	V>M		No	ClinGen ExAC gnomAD
CA368678292 rs1554547475	502	L>F		No	ClinGen gnomAD
CA4411685 rs781877599	504	I>S		No	ClinGen ExAC gnomAD
rs1586524200 CA368678361	507	S>N		No	ClinGen Ensembl
rs1278111348 CA368678375	508	Q>*		No	ClinGen TOPMed
rs782153702 CA4411687	509	R>G		No	ClinGen ExAC TOPMed gnomAD
rs782713359 CA4411688	511	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782492544 CA4411690	511	R>H		No	ClinGen ExAC TOPMed gnomAD
rs782713359 CA4411689	511	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1303592863 CA368678449	513	R>C		No	ClinGen TOPMed gnomAD
CA4411691 rs150151598	513	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs782651834 CA163414708	514	A>G		No	ClinGen TOPMed
CA368678473 rs1032525805	515	R>L		No	ClinGen TOPMed gnomAD
rs1032525805 CA163414723	515	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA4411692 rs764354159	515	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA368678480 rs1157778050	516	N>Y		No	ClinGen TOPMed
CA368678496 rs1563527399	517	Q>R		No	ClinGen Ensembl
rs957838770 CA163414749	518	E>K		No	ClinGen Ensembl
CA368678522 rs1416744414	520	E>K		No	ClinGen TOPMed
CA4411722 rs782677125	523	N>K		No	ClinGen ExAC TOPMed gnomAD
COSM1083481 rs1288866751 CA368679117	524	R>C	Variant assessed as Somatic; impact. endometrium prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA368679121 rs1554548105	524	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA368679122 rs1554548105	524	R>P		No	ClinGen gnomAD
CA4411723 rs138450169	525	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554548119 CA368679138	527	Q>K		No	ClinGen gnomAD
CA368679139 rs1586531847	527	Q>P		No	ClinGen Ensembl
CA4411727 rs782392556	530	L>P		No	ClinGen ExAC TOPMed gnomAD
rs142767232 CA4411728	532	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs142767232 CA368679186	532	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554548127 CA368679237	535	S>N		No	ClinGen gnomAD
rs1586531934 CA368679241	535	S>R		No	ClinGen Ensembl
CA4411730 rs782701081	537	L>P		No	ClinGen ExAC gnomAD
rs1554548130 CA368679275	538	D>G		No	ClinGen gnomAD
CA4411733 rs782760993	541	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4411734 rs781850770	541	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782127379 CA368679324	542	A>S		No	ClinGen ExAC TOPMed gnomAD
CA4411735 rs782127379	542	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1175190393 CA368679349	543	D>E		No	ClinGen TOPMed
CA4411737 rs781903195	543	D>N		No	ClinGen ExAC TOPMed gnomAD
CA368679345 rs1554548146	543	D>V		No	ClinGen gnomAD
CA368679372 rs2230103	545	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4411738 rs2230103 VAR_024924	545	I>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs118010189 CA4411739	546	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs954892566 CA163416410	548	F>L		No	ClinGen gnomAD
rs1554548157 CA368679443	550	K>E		No	ClinGen TOPMed
CA4411740 rs781849984	554	L>V		No	ClinGen ExAC gnomAD
CA368679538 rs1439510928	555	Q>P		No	ClinGen TOPMed
rs782499697 CA4411742	557	Y>*		No	ClinGen ExAC gnomAD
rs782275828 CA4411743	558	P>L		No	ClinGen ExAC gnomAD
rs987542926 CA163416464	558	P>S		No	ClinGen gnomAD
rs148760130 CA4411745	560	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4411744 rs144393643	560	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA4411761 rs781791032	561	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1554548775 CA368680815	563	G>D		No	ClinGen gnomAD
rs187131238 CA4411762	563	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1554548776 CA368680847	565	D>N		No	ClinGen gnomAD
CA4411763 rs572183049	567	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370290068 CA4411764	567	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA368680906 rs1264651374	568	E>Q		No	ClinGen TOPMed
CA4411767 rs202149844	570	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141515782 CA4411766	570	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1586538631 CA368680962	571	Y>D		No	ClinGen Ensembl
rs150890071 COSM243922 CA4411768	572	S>L	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs150890071 CA368680995	572	S>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4411771 rs782061545	574	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA4411773 COSM138640 rs139293638	576	E>K	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1392207041 CA368681085	577	E>K		No	ClinGen TOPMed gnomAD
rs146049827 CA4411775	578	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1454862497 CA368681116	578	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs782035082 CA4411776	579	L>P		No	ClinGen ExAC gnomAD
rs782047979 CA4411777	581	P>S		No	ClinGen ExAC TOPMed gnomAD
CA4411778 rs782732295	582	F>L		No	ClinGen ExAC gnomAD
CA4411780 rs576314207	583	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368681247 rs1586538890	585	F>L		No	ClinGen Ensembl
CA368681255 rs1160600985	586	S>G		No	ClinGen TOPMed
CA4411781 rs782486397	587	K>R		No	ClinGen ExAC TOPMed gnomAD
rs140034854 CA4411785	588	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4411784 rs140034854	588	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371285615 CA4411783	588	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs782615603 CA4411807 CA4411805	589	E>D		No	ClinGen ExAC gnomAD
rs782570785 CA4411810	590	R>P		No	ClinGen ExAC gnomAD
rs782570785 CA4411809	590	R>Q		No	ClinGen ExAC gnomAD
rs562399614 CA4411808	590	R>W		No	ClinGen ExAC TOPMed gnomAD
CA163418246 rs1293839	592	R>K		No	ClinGen Ensembl
rs782342345 CA4411811	592	R>S		No	ClinGen ExAC TOPMed gnomAD
CA163418232 rs561308381	592	R>W		No	ClinGen 1000Genomes
CA368681502 rs781972618	594	Y>H		No	ClinGen ExAC gnomAD
CA4411812 rs781972618	594	Y>N		No	ClinGen ExAC gnomAD
CA368681548 rs1554549064	596	S>C		No	ClinGen gnomAD
rs782014459 CA4411815	596	S>N		No	ClinGen ExAC gnomAD
rs1554549067 CA368681596	598	S>I		No	ClinGen gnomAD
CA368681599 rs1554549067	598	S>N		No	ClinGen gnomAD
rs782307582 CA4411817	598	S>R		No	ClinGen ExAC gnomAD
CA368681617 rs1554549073	599	P>R		No	ClinGen gnomAD
rs1586541420 CA368681705	604	T>P		No	ClinGen Ensembl
rs1270377411 CA368681735	606	S>G		No	ClinGen TOPMed
CA4411844 rs144124584	609	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA368682006 rs1554549343	611	V>F		No	ClinGen gnomAD
rs1554549348 CA368682069	614	N>K		No	ClinGen gnomAD
rs1554549345 CA368682066	614	N>S		No	ClinGen gnomAD
CA4411845 rs782525770	617	A>V		No	ClinGen ExAC gnomAD
rs372479780 CA163418884	618	R>C		No	ClinGen ESP TOPMed gnomAD
CA4411847 rs145083539	618	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA368682159 rs1554549361	619	T>A		No	ClinGen gnomAD
CA4411849 rs201615556	621	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4411851 rs782500581	623	F>L		No	ClinGen ExAC TOPMed gnomAD
rs782670312 CA4411852	624	Y>H		No	ClinGen ExAC gnomAD
CA368682318 rs1554549377	627	F>C		No	ClinGen gnomAD
rs1334023216 CA368682331	628	L>V		No	ClinGen TOPMed gnomAD
CA368682362 rs1466549745	630	C>R		No	ClinGen TOPMed gnomAD
rs1554549382 CA368682371	630	C>Y		No	ClinGen gnomAD
CA4411854 rs782312066	632	V>G		No	ClinGen ExAC TOPMed gnomAD
rs781947405 CA4411855	633	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1554549660 CA368683507	635	V>E		No	ClinGen gnomAD
rs1214869758 CA368683524	636	L>I		No	ClinGen TOPMed gnomAD
CA368683520 rs1214869758	636	L>V		No	ClinGen TOPMed gnomAD
rs367747037 CA4411877	638	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA4411878 rs782309842	639	L>M		No	ClinGen ExAC gnomAD
rs1554549673 CA368683751	643	E>G		No	ClinGen gnomAD
rs142155041 CA4411882	643	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142155041 CA4411883	643	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA368683790 rs1554549682	644	S>G		No	ClinGen gnomAD
rs781799480 CA4411885	644	S>T		No	ClinGen ExAC gnomAD
rs782512335 CA368683837	645	M>K		No	ClinGen TOPMed gnomAD
rs782512335 CA163419691	645	M>T		No	ClinGen TOPMed gnomAD
CA368683831 rs1554549684	645	M>V		No	ClinGen gnomAD
rs782463666 CA4411886	649	C>R		No	ClinGen ExAC TOPMed gnomAD
CA368683987 rs1554549693	650	A>V		No	ClinGen gnomAD
CA368683998 rs1429106727	652	F>L		No	ClinGen TOPMed gnomAD
CA368684021 rs1351977661	653	C>Y		No	ClinGen TOPMed
rs1039450561 CA163419702 COSM199866	654	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs376508181 CA4411919	658	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554549849 CA368684300	660	H>Y		No	ClinGen gnomAD
rs782497676 CA4411921	662	H>Y		No	ClinGen ExAC gnomAD
rs1554549856 CA368684400	663	K>M		No	ClinGen gnomAD
rs1554549855 CA368684365	663	K>Q		No	ClinGen gnomAD
CA4411922 rs200345816	665	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4411924 rs782314850	666	E>D		No	ClinGen ExAC gnomAD
rs377645698 CA368684450	666	E>K		No	ClinGen ExAC TOPMed gnomAD
CA4411923 rs377645698	666	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA4411925 rs369144524	670	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4411926 rs782223311	671	A>V		No	ClinGen ExAC gnomAD
CA4411927 rs782367717	672	A>V		No	ClinGen ExAC TOPMed gnomAD
rs782136454 CA4411929	673	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1353234268 CA368684641	675	D>A		No	ClinGen TOPMed gnomAD
rs1353234268 CA368684643	675	D>G		No	ClinGen TOPMed gnomAD
CA368684670 rs1586549400	677	W>*		No	ClinGen Ensembl
CA4411931 rs782404950	678	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA368684706 rs1586549477	679	Q>G		No	ClinGen Ensembl
CA368684715 rs1554549890	679	Q>W		No	ClinGen gnomAD

No associated diseases with Q13948

1 regional properties for Q13948

Type	Name	Position	InterPro Accession
domain	CASP, C-terminal	423 - 641	IPR012955

Functions

		Description
EC Number
Subcellular Localization	Golgi apparatus membrane ; Single-pass type IV membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
integral component of Golgi membrane	The component of the Golgi 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.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name	Definition
intra-Golgi vesicle-mediated transport	The directed movement of substances within the Golgi, mediated by small transport vesicles. These either fuse with the cis-Golgi or with each other to form the membrane stacks known as the cis-Golgi reticulum (network).

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MAANVGSMFQ	YWKRFDLQQL	QRELDATATV	LANRQDESEQ	SRKRLIEQSR	EFKKNTPEDL
70	80	90	100	110	120
RKQVAPLLKS	FQGEIDALSK	RSKEAEAAFL	NVYKRLIDVP	DPVPALDLGQ	QLQLKVQRLH
130	140	150	160	170	180
DIETENQKLR	ETLEEYNKEF	AEVKNQEVTI	KALKEKIREY	EQTLKNQAET	IALEKEQKLQ
190	200	210	220	230	240
NDFAEKERKL	QETQMSTTSK	LEEAEHKVQS	LQTALEKTRT	ELFDLKTKYD	EETTAKADEI
250	260	270	280	290	300
EMIMTDLERA	NQRAEVAQRE	AETLREQLSS	ANHSLQLASQ	IQKAPDVEQA	IEVLTRSSLE
310	320	330	340	350	360
VELAAKEREI	AQLVEDVQRL	QASLTKLREN	SASQISQLEQ	QLSAKNSTLK	QLEEKLKGQA
370	380	390	400	410	420
DYEEVKKELN	ILKSMEFAPS	EGAGTQDAAK	PLEVLLLEKN	RSLQSENAAL	RISNSDLSGR
430	440	450	460	470	480
CAELQVRITE	AVATATEQRE	LIARLEQDLS	IIQSIQRPDA	EGAAEHRLEK	IPEPIKEATA
490	500	510	520	530	540
LFYGPAAPAS	GALPEGQVDS	LLSIISSQRE	RFRARNQELE	AENRLAQHTL	QALQSELDSL
550	560	570	580	590	600
RADNIKLFEK	IKFLQSYPGR	GSGSDDTELR	YSSQYEERLD	PFSSFSKRER	QRKYLSLSPW
610	620	630	640	650	660
DKATLSMGRL	VLSNKMARTI	GFFYTLFLHC	LVFLVLYKLA	WSESMERDCA	TFCAKKFADH
670
LHKFHENDNG	AAAGDLWQ