AiPD: Autoinhibited Protein Database

Q10567

Gene name	AP1B1 (ADTB1, BAM22, CLAPB2)
Protein name	AP-1 complex subunit beta-1
Names	Adaptor protein complex AP-1 subunit beta-1, Adaptor-related protein complex 1 subunit beta-1, Beta-1-adaptin, Beta-adaptin 1, Clathrin assembly protein complex 1 beta large chain, Golgi adaptor HA1/AP1 adaptin beta subunit
Species	Homo sapiens (Human)
KEGG Pathway	hsa:162
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

565-635 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

565-635 (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

21 structures for Q10567

Entry ID	Method	Resolution	Chain	Position	Source
4HMY	X-ray	700 A	B	1-584	PDB
4P6Z	X-ray	300 A	B	1-584	PDB
6CM9	EM	373 A	B	1-584	PDB
6CRI	EM	680 A	B/I/J	14-583	PDB
6D83	EM	427 A	B	1-584	PDB
6D84	EM	672 A	B/F	1-584	PDB
6DFF	EM	390 A	B	1-584	PDB
7R4H	EM	234 A	B	1-584	PDB
7UX3	EM	960 A	B	2-949	PDB
8D4C	EM	930 A	A/B	2-949	PDB
8D4D	EM	960 A	A/B	1-949	PDB
8D4E	EM	920 A	B	1-949	PDB
8D4F	EM	980 A	A/B	1-949	PDB
8D4G	EM	1160 A	A/B	1-949	PDB
8D9R	EM	2000 A	A/B/D/E/F/I	1-949	PDB
8D9S	EM	2000 A	A/B/D/E/F/I	1-949	PDB
8D9T	EM	2000 A	A/B/D/E/F/I	1-949	PDB
8D9U	EM	2000 A	A/B/D/E/F/I	1-949	PDB
8D9V	EM	940 A	A/B	1-949	PDB
8D9W	EM	930 A	A/B/D/E	1-949	PDB
AF-Q10567-F1	Predicted				AlphaFoldDB

593 variants for Q10567

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA411133990 rs1602749299 RCV000993591 VAR_083524	144	C>R	Autosomal recessive keratitis-ichthyosis-deafness syndrome KIDAR [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000993592 rs1602683532	779	L>missing	Autosomal recessive keratitis-ichthyosis-deafness syndrome [ClinVar]	Yes	ClinVar dbSNP
rs780548317 RCV000993593 CA10172830	792	E>*	Autosomal recessive keratitis-ichthyosis-deafness syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_083525	792	E>del	KIDAR; no protein detected by Western blot in patient cells [UniProt]	Yes	UniProt
CA411139245 rs1272049232	3	D>V		No	ClinGen gnomAD
CA411139215 rs1413163557	4	S>L		No	ClinGen TOPMed
CA10173606 rs768041173	7	F>L		No	ClinGen ExAC gnomAD
CA411139102 rs1472515670	9	T>M		No	ClinGen TOPMed
rs769225043 CA10173603	10	T>S		No	ClinGen ExAC gnomAD
CA411137989 rs1365415202	18	L>V		No	ClinGen TOPMed
CA10173577 rs768463336	24	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1336656142 CA411137631 COSM1033166	40	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA411137577 rs1381474440	43	V>M		No	ClinGen gnomAD
rs1448053482 CA411136037	49	A>T		No	ClinGen gnomAD
rs758743439 CA10173545	50	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1340172549 CA411135890	54	V>G		No	ClinGen gnomAD
rs1228125102 CA411135848	56	N>S		No	ClinGen TOPMed gnomAD
rs1228125102 CA411135851	56	N>T		No	ClinGen TOPMed gnomAD
CA411135782 rs1321421805	58	M>T		No	ClinGen TOPMed gnomAD
CA10173540 rs766526825	58	M>V		No	ClinGen ExAC TOPMed gnomAD
CA10173539 rs760775053	60	T>M		No	ClinGen ExAC gnomAD
rs1307055862 CA411135707	61	D>A		No	ClinGen gnomAD
rs1434051522 CA411135709	61	D>H		No	ClinGen Ensembl
rs762774388 CA10173536	62	N>S		No	ClinGen ExAC gnomAD
CA411135440 rs1363345360	74	M>K		No	ClinGen TOPMed
rs1602751623 CA411135390	76	Y>S		No	ClinGen Ensembl
CA10173530 rs746523751	79	S>N		No	ClinGen ExAC gnomAD
CA411135284 rs1275274236	81	P>L		No	ClinGen gnomAD
CA10173529 rs777427842	83	M>V		No	ClinGen ExAC TOPMed gnomAD
CA10173528 rs758050378	85	I>T		No	ClinGen ExAC gnomAD
CA10173524 rs754382042	91	F>S		No	ClinGen ExAC gnomAD
rs766823526 CA10173523	93	K>R		No	ClinGen ExAC gnomAD
CA411134898 rs1185485676	94	D>H		No	ClinGen gnomAD
CA411134837 rs1247355431	97	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA323094168 rs1036726186	98	P>A		No	ClinGen Ensembl
CA323094163 rs754076846	98	P>L		No	ClinGen TOPMed gnomAD
CA323094155 rs940235367	99	N>S		No	ClinGen TOPMed gnomAD
rs1353803952 CA411134774	100	P>L		No	ClinGen gnomAD
CA411134783 rs1227433190	100	P>T		No	ClinGen gnomAD
CA10173493 rs772755805	103	R>*		No	ClinGen ExAC gnomAD
rs771610536 CA10173492	103	R>Q		No	ClinGen ExAC gnomAD
CA10173490 rs773941143	108	R>Q	Variant assessed as Somatic; 4.868e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA411134663 rs1160266009	108	R>W		No	ClinGen TOPMed gnomAD
CA411134564 rs1165637636	113	I>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1486793776 CA411134527	115	V>A		No	ClinGen gnomAD
rs749596101 CA10173488	115	V>I		No	ClinGen ExAC gnomAD
CA10173486 rs780345246	120	E>D		No	ClinGen ExAC
CA10173485 rs770315767	121	Y>N		No	ClinGen ExAC gnomAD
rs746406867 CA10173484	121	Y>S		No	ClinGen ExAC gnomAD
CA10173482 rs757365614	123	C>G		No	ClinGen ExAC gnomAD
rs751704393 CA10173481	123	C>W		No	ClinGen ExAC TOPMed gnomAD
rs1294729679 CA411134349	124	E>*		No	ClinGen gnomAD
rs1294729679 CA411134357	124	E>K		No	ClinGen gnomAD
CA411134298 rs778075925	127	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1364688342 CA411134291	127	R>Q		No	ClinGen gnomAD
CA10173480 rs778075925	127	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1308378523 CA411134284	128	K>Q		No	ClinGen TOPMed
CA411134261 rs1289888515	129	C>S		No	ClinGen gnomAD
rs998775154 CA323094084	133	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA10173477 rs753654962	134	D>G		No	ClinGen ExAC gnomAD
CA323094075 rs867262206	135	P>S		No	ClinGen Ensembl
rs756047868 CA10173475	138	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10173474 rs750286015	138	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA411134074 rs750286015	138	R>L		No	ClinGen ExAC gnomAD
rs1045569378 CA323094056	140	T>I		No	ClinGen TOPMed
rs1479347441 CA411134011	143	V>M		No	ClinGen gnomAD
rs773851419 CA323094042 COSM1535313	145	V>L	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs773851419 CA10173471	145	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1156310040 CA411133862	150	D>G		No	ClinGen TOPMed
rs1206004464 CA411133868	150	D>N		No	ClinGen TOPMed gnomAD
rs762567977 CA10173469	152	N>H		No	ClinGen ExAC gnomAD
rs754335314 CA411133823	152	N>S		No	ClinGen TOPMed
rs754335314 CA323094030	152	N>T		No	ClinGen TOPMed
CA411133810 rs1219112521	153	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs199960238 CA323094024	157	E>G		No	ClinGen 1000Genomes gnomAD
rs1569160335 CA411133648	160	G>C		No	ClinGen Ensembl
rs746270955 CA10173466	161	F>Y		No	ClinGen ExAC gnomAD
rs1431226784 CA411133514	165	L>F		No	ClinGen gnomAD
CA411133518 rs1431226784	165	L>V		No	ClinGen gnomAD
CA10173465 rs777224265	166	K>R		No	ClinGen ExAC gnomAD
CA411133462 rs1445306983	167	D>A		No	ClinGen TOPMed
CA411133463 rs1472101194	167	D>Y		No	ClinGen gnomAD
rs771569376 CA411133404	169	I>F		No	ClinGen ExAC gnomAD
CA10173464 rs771569376	169	I>V		No	ClinGen ExAC gnomAD
CA10173462 rs778059263	171	D>N		No	ClinGen ExAC gnomAD
CA10173460 rs190665191	173	N>K		No	ClinGen 1000Genomes ExAC
rs1245296122 CA411133256	174	P>L		No	ClinGen TOPMed
CA10173459 rs779224971	175	M>T		No	ClinGen ExAC gnomAD
rs1160070097 CA411132768	179	N>S		No	ClinGen gnomAD
CA411131353 rs1454050252	182	A>V		No	ClinGen gnomAD
CA411131244 rs1260837952	189	E>D		No	ClinGen TOPMed gnomAD
CA10173431 rs570779704	189	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10173432 rs570779704	189	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1013785497 CA323092789	193	S>N		No	ClinGen TOPMed gnomAD
CA411131187 rs1260157997	194	S>N		No	ClinGen gnomAD
CA411131170 rs1207257524	195	N>S		No	ClinGen gnomAD
rs766891949 CA10173427	198	D>H		No	ClinGen ExAC TOPMed gnomAD
rs766891949 CA10173426	198	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1033810499 CA323092779	199	L>V		No	ClinGen TOPMed gnomAD
CA10173424 rs773804778	200	N>K		No	ClinGen ExAC
rs112202193 CA10173425	200	N>S		No	ClinGen ExAC gnomAD
rs148513293 CA323092776	202	Q>L		No	ClinGen ESP
rs1419363566 CA411131076	203	S>Y		No	ClinGen TOPMed
rs772647244 CA10173423	205	N>S		No	ClinGen ExAC gnomAD
rs1442978964 CA411131014	208	L>P		No	ClinGen TOPMed gnomAD
rs1324611239 CA411130998	209	T>R		No	ClinGen gnomAD
CA10173422 rs144713125	212	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000735357 rs1569159579 CA411130955	213	E>K		No	ClinGen ClinVar Ensembl dbSNP
CA411130909 rs1365712679	216	E>K		No	ClinGen TOPMed gnomAD
CA411130835 rs1220148663	220	I>T		No	ClinGen gnomAD
rs1371856306 CA411130842	220	I>V		No	ClinGen gnomAD
rs746823629 CA10173416	228	N>S		No	ClinGen ExAC gnomAD
CA411130650 rs1360271528	230	M>I		No	ClinGen gnomAD
CA10173413 rs752135761	230	M>T		No	ClinGen ExAC TOPMed gnomAD
CA10173414 rs758428449	230	M>V		No	ClinGen ExAC TOPMed gnomAD
CA411130621 rs1280198471	232	K>E		No	ClinGen TOPMed
CA10173411 rs754647389	234	D>N		No	ClinGen ExAC TOPMed gnomAD
rs766149155 CA10173409	235	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10173408 rs140871358	235	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs766149155 CA10173410	235	R>S		No	ClinGen ExAC TOPMed gnomAD
COSM345189 CA411130530 rs1406452333	236	E>K	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs762436143 CA10173405	238	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1279701074 CA411130137	243	R>Q		No	ClinGen gnomAD
rs747916890 CA10173378	245	T>N		No	ClinGen ExAC gnomAD
rs747916890 CA10173377	245	T>S		No	ClinGen ExAC gnomAD
rs748802987 CA10173374	250	H>R		No	ClinGen ExAC gnomAD
rs779763804 CA10173373	252	N>S		No	ClinGen ExAC TOPMed
rs1360158254 CA411129953	253	S>A		No	ClinGen TOPMed gnomAD
rs1360158254 CA411129959	253	S>T		No	ClinGen TOPMed gnomAD
rs200526044 CA10173371	254	A>S		No	ClinGen ExAC TOPMed gnomAD
CA10173370 rs200526044	254	A>T		No	ClinGen ExAC TOPMed gnomAD
CA10173369 rs757585860	258	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA323091366 rs1020384653	260	V>A		No	ClinGen TOPMed gnomAD
CA411129721 rs1241368673	265	K>R		No	ClinGen gnomAD
rs1213385555 CA411129600	270	L>F		No	ClinGen TOPMed gnomAD
CA411129597 rs1448454265	271	S>T		No	ClinGen gnomAD
rs954346439 CA323091360	272	K>R		No	ClinGen TOPMed gnomAD
rs371384145 CA10173363	278	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1380524520 CA411129306	281	L>F		No	ClinGen gnomAD
CA411129185 rs878985902	285	A>D		No	ClinGen Ensembl
rs878985902 CA323091339	285	A>G		No	ClinGen Ensembl
rs367589781 CA323091330	287	P>T		No	ClinGen ESP
rs904733130 CA323091329	289	V>I		No	ClinGen TOPMed
rs774560750 CA10173356	295	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1242453909 CA411128987	296	P>S		No	ClinGen gnomAD
CA10173353 COSM3379293 rs780834015	300	Y>C	pancreas Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA
CA10173352 rs770560404	303	L>Q		No	ClinGen ExAC gnomAD
rs1043625113 CA323091293	304	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA323091292 rs1010374023	304	R>H		No	ClinGen TOPMed gnomAD
rs747391498 CA10173351	307	N>I		No	ClinGen ExAC TOPMed gnomAD
COSM3800108 CA411128734 rs747391498	307	N>S	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA411128703 rs1364577725	309	I>V		No	ClinGen gnomAD
CA323091267 rs749794061	310	V>M		No	ClinGen Ensembl
CA10173329 rs779408860	315	E>V		No	ClinGen ExAC gnomAD
CA10173328 rs755502586	320	E>D		No	ClinGen ExAC gnomAD
rs753940136 CA10173327	322	K>R		No	ClinGen ExAC
rs780046671 CA10173326	324	F>L		No	ClinGen ExAC gnomAD
CA411127478 rs1336034944	325	F>L		No	ClinGen TOPMed
CA411127469 rs1278176541	326	V>L		No	ClinGen TOPMed
rs148745544 CA411127443	329	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411127428 rs1377679980	331	P>L		No	ClinGen gnomAD
rs375122078 CA323088867	332	I>V		No	ClinGen ESP gnomAD
CA10173322 rs564209694 CA10173323	334	V>L		No	ClinGen ExAC TOPMed gnomAD
rs564209694 CA411127413	334	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10173318 rs759445131	340	D>G		No	ClinGen ExAC gnomAD
rs1179992881 CA411127375	340	D>H		No	ClinGen gnomAD
CA411127368 rs1361715934	341	I>V		No	ClinGen gnomAD
rs985773640 CA323088845	342	M>T		No	ClinGen Ensembl
CA411127361 rs1442059292	342	M>V		No	ClinGen gnomAD
CA10173317 rs776175523	344	R>C		No	ClinGen ExAC gnomAD
CA10173316 rs760201939	344	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10173315 rs760201939	344	R>L		No	ClinGen ExAC TOPMed gnomAD
rs772795230 CA10173314	347	S>C		No	ClinGen ExAC gnomAD
CA323088826 rs931646658	347	S>P		No	ClinGen TOPMed
CA411127309 rs1602732080	350	N>S		No	ClinGen Ensembl
CA323088796 rs541356127	351	I>V		No	ClinGen Ensembl
rs199663865 CA10173312	352	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs772406941 COSM242987 CA10173266	354	V>A	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA10173263 rs779869503	362	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA10173262 rs756010735	363	T>A		No	ClinGen ExAC TOPMed gnomAD
CA10173261 rs750315365	364	E>K		No	ClinGen ExAC gnomAD
rs1156645726 CA411127030	367	V>M		No	ClinGen TOPMed gnomAD
CA10173258 rs751083657	371	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1415504 rs756663659 CA10173259	371	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA10173256 rs762717971	373	A>S		No	ClinGen ExAC gnomAD
CA10173254 rs370184347	375	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs370184347 CA10173253	375	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA10173252 rs377201972	375	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA411126903 rs1406803342	377	I>F		No	ClinGen Ensembl
rs143474762 CA10173251	379	R>C		No	ClinGen ESP ExAC gnomAD
CA323088191 rs1013675523	379	R>H		No	ClinGen TOPMed gnomAD
CA411126879 rs1354993726	380	C>R		No	ClinGen gnomAD
COSM357757 rs773396944 CA10173249	381	A>T	lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA411126815 rs1602730613	384	V>G		No	ClinGen Ensembl
CA10173218 rs747668901	388	A>V		No	ClinGen ExAC gnomAD
rs754230380 CA10173215	390	R>H		No	ClinGen ExAC TOPMed gnomAD
rs940204932 CA323087548	391	C>S		No	ClinGen Ensembl
CA411126245 rs1279819907	391	C>Y		No	ClinGen gnomAD
rs1402902030 CA411126237	392	V>M		No	ClinGen gnomAD
rs750889068 CA10173212	396	L>R		No	ClinGen ExAC gnomAD
CA10173209 rs774479786	397	D>E		No	ClinGen ExAC gnomAD
CA10173210 rs761812882	397	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1426087851 CA411126153	398	L>F		No	ClinGen gnomAD
rs763204905 CA10173207	400	Q>H		No	ClinGen ExAC gnomAD
CA411126113 rs1448775318	401	T>A		No	ClinGen TOPMed
rs1309681090 CA411126096	402	K>R		No	ClinGen TOPMed
CA411126084 rs1193420933	403	V>F		No	ClinGen gnomAD
rs1352931283 CA411126071	404	N>S		No	ClinGen TOPMed
CA10173203 rs773139106	412	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1221393929 CA411125945	413	V>A		No	ClinGen gnomAD
rs376113782 CA10173201	419	R>H		No	ClinGen ESP ExAC gnomAD
rs376113782 CA10173202	419	R>L		No	ClinGen ESP ExAC gnomAD
rs778617528 CA10173200	423	N>D		No	ClinGen ExAC gnomAD
CA411125743 rs1179678745	424	K>*		No	ClinGen TOPMed
rs1183324698 CA411125549	427	S>I		No	ClinGen gnomAD
rs1183324698 CA411125554	427	S>N		No	ClinGen gnomAD
rs778266401 CA10173173	427	S>R		No	ClinGen ExAC gnomAD
CA10173171 rs372583527	429	I>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA323086793 rs372583527	429	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs765488163 CA10173170	430	A>T		No	ClinGen ExAC gnomAD
rs1263721646 CA411125459	432	L>P		No	ClinGen gnomAD
CA10173169 rs759728681	434	E>K		No	ClinGen ExAC TOPMed gnomAD
CA411125406 rs1465468340	435	N>H		No	ClinGen TOPMed
rs1175078784 CA411125365	437	D>H		No	ClinGen TOPMed gnomAD
CA411125363 rs1175078784	437	D>Y		No	ClinGen TOPMed gnomAD
rs369916638 CA323086779	438	S>C		No	ClinGen ESP
rs369916638 CA323086777	438	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA
rs952958732 CA323086775	440	D>E		No	ClinGen Ensembl
CA411125206 rs1405007031	444	A>T		No	ClinGen TOPMed
CA10173168 rs376948907	445	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA411125192 rs1322502108	445	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs543593960 CA10173167	446	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs543593960 CA10173166	446	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411125139 COSM3668565 rs1299249059	448	M>V	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
rs768715331 CA10173164	452	V>A		No	ClinGen ExAC gnomAD
CA411125058 rs1402368855	452	V>M		No	ClinGen gnomAD
rs1456982630 CA411125031	454	E>K		No	ClinGen gnomAD
CA10173161 rs146724020	456	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA411124968 rs1476667715	456	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs780846849 CA10173159	458	R>P		No	ClinGen ExAC TOPMed gnomAD
rs780846849 CA411124931	458	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA411124934 rs1194166263	458	R>W		No	ClinGen gnomAD
rs771230207 CA411124916	459	I>M		No	ClinGen ExAC TOPMed gnomAD
rs367568628 CA411124899	460	D>E		No	ClinGen ESP TOPMed
rs747378931 CA10173157	460	D>N		No	ClinGen ExAC gnomAD
rs747378931 CA411124907	460	D>Y		No	ClinGen ExAC gnomAD
CA411124865 rs758965380	462	A>S		No	ClinGen ExAC TOPMed gnomAD
rs758965380 CA10173155	462	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1484517323 CA411124854	462	A>V		No	ClinGen gnomAD
CA10173154 rs748239546	463	D>H		No	ClinGen ExAC gnomAD
CA411124764 rs1390807362	467	E>G		No	ClinGen gnomAD
CA10173150 rs766717374	470	L>F		No	ClinGen ExAC gnomAD
rs751466739 CA10173148	471	E>K		No	ClinGen ExAC gnomAD
CA411124620 rs1171059431	474	H>R		No	ClinGen TOPMed gnomAD
CA411124589 COSM3800106 rs144812422	475	D>E	urinary_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA10173145 rs576191808	476	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10173144 rs764604790	477	S>T		No	ClinGen ExAC gnomAD
CA411124495 rs1340150938	479	Q>P		No	ClinGen TOPMed
rs1323614109 CA411123493	481	Q>H		No	ClinGen TOPMed
CA411123444 rs1377125768	486	T>A		No	ClinGen TOPMed gnomAD
rs774650400 CA10173118	489	V>M		No	ClinGen ExAC gnomAD
rs1180630209 CA411123376	491	L>F		No	ClinGen gnomAD
rs780330067 CA411123180	505	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1261560487 CA411123185	505	Q>R		No	ClinGen gnomAD
rs1188673093 CA411123168	506	V>A		No	ClinGen TOPMed gnomAD
rs770107686 CA10173114	511	T>A		No	ClinGen ExAC TOPMed gnomAD
CA10173090 rs771243553	513	D>Y		No	ClinGen ExAC gnomAD
rs1189969940 CA411122512	520	R>Q		No	ClinGen gnomAD
CA10173087 rs753729363	520	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1478017166 CA411122503	521	D>Y		No	ClinGen gnomAD
rs1245595086 CA411122488	522	R>C	Variant assessed as Somatic; 4.633e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA411122484 rs1221697688	522	R>H		No	ClinGen gnomAD
rs1320742734 CA411122369	528	R>C		No	ClinGen TOPMed
CA411122279 rs1318326022	533	D>A		No	ClinGen gnomAD
rs1318326022 CA411122275	533	D>V		No	ClinGen gnomAD
rs1297525814 CA411122253	534	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs750013781 CA10173083	534	P>T		No	ClinGen ExAC
rs1328670446 CA411122239	535	V>A		No	ClinGen gnomAD
CA411122249 rs1366862763	535	V>M		No	ClinGen gnomAD
CA411122210 rs1275465170	537	A>G		No	ClinGen gnomAD
CA10173081 rs761574152	539	E>K		No	ClinGen ExAC TOPMed gnomAD
rs751837097 CA10173080	543	A>S		No	ClinGen ExAC
CA411122131 rs1330929182	543	A>V		No	ClinGen gnomAD
rs763432580 CA10173078	544	E>K		No	ClinGen ExAC gnomAD
CA411122093 rs1414358869	545	K>R		No	ClinGen gnomAD
CA411122010 rs1602708500	549	S>F		No	ClinGen Ensembl
CA10173076 rs200248984	551	E>D		No	ClinGen ExAC TOPMed gnomAD
CA10173075 rs759677252	552	T>M		No	ClinGen ExAC gnomAD
rs145062103 CA411121923	553	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs771030641 CA10173073	554	L>V		No	ClinGen ExAC TOPMed gnomAD
CA411121899 rs1480781260	555	I>F		No	ClinGen gnomAD
rs1207787639 CA411121881	556	E>K		No	ClinGen TOPMed gnomAD
CA323077108 rs560553452 CA10173071	561	D>E		No	ClinGen ExAC gnomAD
rs1236497512 CA411121785	561	D>H		No	ClinGen gnomAD
rs1308684487 CA411121752	562	E>D		No	ClinGen TOPMed gnomAD
CA411121741 rs1447758107	563	L>F		No	ClinGen gnomAD
rs756098869 CA10173067	566	Y>H		No	ClinGen ExAC
rs1360184297 CA411121654	567	I>L		No	ClinGen gnomAD
rs1360184297 CA411121646	567	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs371236685 CA10173066	568	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs368232828 CA323077099	569	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
CA10173063 rs375168948	573	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1252251405 CA411121473	576	K>E		No	ClinGen gnomAD
CA10173061 rs200628910	579	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753171403 CA10173060	579	S>I		No	ClinGen ExAC TOPMed gnomAD
rs753171403 CA10173059	579	S>T		No	ClinGen ExAC TOPMed gnomAD
rs765819352 CA10173058	580	A>V		No	ClinGen ExAC gnomAD
CA411121364 rs1351472932	581	F>L		No	ClinGen gnomAD
CA411121359 rs1285352217	582	V>M		No	ClinGen TOPMed gnomAD
CA323077038 rs898894708	583	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA323077026 rs994876845	584	G>A		No	ClinGen TOPMed gnomAD
rs760162142 CA10173057	584	G>R		No	ClinGen ExAC TOPMed gnomAD
rs994876845 CA323077025	584	G>V		No	ClinGen TOPMed gnomAD
rs760162142 CA323077028	584	G>W		No	ClinGen ExAC TOPMed gnomAD
rs1380333484 CA411121305	585	G>A		No	ClinGen gnomAD
CA10173056 rs777038100	585	G>S		No	ClinGen ExAC TOPMed gnomAD
CA10173053 rs773421319	586	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10173054 rs200943311	586	R>W		No	ClinGen ExAC TOPMed gnomAD
rs201598106 CA10173052	587	G>V		No	ClinGen 1000Genomes ExAC gnomAD
rs775310171 CA323076984	588	V>F		No	ClinGen ExAC TOPMed gnomAD
rs775310171 CA10173050	588	V>I		No	ClinGen ExAC TOPMed gnomAD
rs149960917 CA323076974	589	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149960917 CA10173048	589	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10173044 rs575547829	596	R>C		No	ClinGen ExAC gnomAD
rs776595684 CA10173043	596	R>H		No	ClinGen ExAC TOPMed gnomAD
rs776595684 CA10173042	596	R>L		No	ClinGen ExAC TOPMed gnomAD
rs370797905 CA10173041	597	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs377532252 CA323076933	598	A>V		No	ClinGen ESP TOPMed
rs373375337 CA323076927	599	S>L		No	ClinGen ESP gnomAD
rs778723802 CA10173024	601	E>K		No	ClinGen ExAC gnomAD
rs754226007 CA10173022	603	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1198171293 CA411120840	605	S>I		No	ClinGen gnomAD
rs1425167071 CA411120827	606	P>S		No	ClinGen TOPMed
rs1255027303 CA411120802	607	E>D		No	ClinGen TOPMed gnomAD
rs780594720 CA10173021	607	E>K		No	ClinGen ExAC gnomAD
CA323076292 rs764429578	608	T>I		No	ClinGen gnomAD
CA10173019 rs750467942	610	P>A		No	ClinGen ExAC TOPMed gnomAD
rs750467942 CA411120753	610	P>S		No	ClinGen ExAC TOPMed gnomAD
rs544892627 CA10173017	611	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767543540 CA10173018	611	T>P		No	ClinGen ExAC gnomAD
CA10173015 rs371081410	614	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs893359559 CA323076252	616	G>W		No	ClinGen TOPMed gnomAD
rs1334834057 CA411120653	618	Q>K		No	ClinGen gnomAD
CA411120639 rs1392930092	619	P>L		No	ClinGen gnomAD
rs759362901 CA10173014	621	V>D		No	ClinGen ExAC gnomAD
rs1171915271 CA411120623	622	I>V		No	ClinGen gnomAD
rs1031871875 CA323076245	623	P>L		No	ClinGen TOPMed gnomAD
CA411120618 rs1435319915	623	P>T		No	ClinGen gnomAD
CA10173012 rs574401859	624	A>T	Variant assessed as Somatic; 5.337e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA323076234 rs765736231	625	Q>H		No	ClinGen Ensembl
rs1233682584 CA411120586	626	G>A		No	ClinGen TOPMed gnomAD
CA10173009 rs151248589	627	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747670575 CA10173008	628	L>V		No	ClinGen ExAC gnomAD
CA411120555 rs1212192177	629	L>Q		No	ClinGen gnomAD
rs948781037 CA323076178	636	D>E		No	ClinGen TOPMed
rs377633401 CA10173005	638	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA411120425 rs1370838682	639	P>A		No	ClinGen TOPMed
rs369205288 CA10173003	639	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA411120408 rs1375223156	640	P>L		No	ClinGen TOPMed
CA10173002 rs572161344	640	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10172999 rs377016822	643	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs866417869 CA323076110	644	P>Q		No	ClinGen Ensembl
rs1408889024 CA411120345	645	P>S		No	ClinGen gnomAD
rs760009222 CA10172997	648	T>A		No	ClinGen ExAC TOPMed gnomAD
CA10172995 rs766041175	649	S>T		No	ClinGen ExAC gnomAD
CA10172994 rs760562639	650	S>L		No	ClinGen ExAC TOPMed gnomAD
CA411120281 rs1445906184	651	V>A		No	ClinGen gnomAD
rs372483328 CA10172992	651	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs761399528 CA411120272	652	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA411120264 rs1353858623	653	M>I		No	ClinGen gnomAD
rs1403066528 CA411120265	653	M>T		No	ClinGen gnomAD
CA411120253 rs1292398888	655	A>S		No	ClinGen gnomAD
rs9613866 CA323076080	655	A>V		No	ClinGen gnomAD
rs773778634 CA10172989	656	V>M		No	ClinGen ExAC gnomAD
CA411120245 rs1276225619	657	D>N		No	ClinGen gnomAD
rs1488614754 CA411120233	658	L>P		No	ClinGen TOPMed
rs1488614754 CA411120232	658	L>R		No	ClinGen TOPMed
CA411120220 rs1430001628	660	G>D		No	ClinGen gnomAD
CA10172986 rs553866066	661	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1403772753 CA411120215	661	G>V		No	ClinGen gnomAD
CA411120214 rs1166032252	662	G>S		No	ClinGen TOPMed gnomAD
CA411120202 rs1476392424	664	D>N		No	ClinGen gnomAD
rs147293466 CA10172972	667	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA411120039 rs1236287486	668	G>E		No	ClinGen TOPMed
CA10172970 rs762536156	669	D>N		No	ClinGen ExAC gnomAD
rs1437376468 CA411120002	673	G>R		No	ClinGen Ensembl
CA10172953 rs751392913	674	I>M		No	ClinGen ExAC TOPMed
CA10172954 rs545954891	674	I>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411119903 rs545954891	674	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411119887 rs1351703026	676	G>C		No	ClinGen gnomAD
CA411119880 rs1306561293	676	G>V		No	ClinGen gnomAD
rs1467010343 CA411119834	679	F>V		No	ClinGen TOPMed gnomAD
rs759149457 CA10172949	680	V>L		No	ClinGen ExAC gnomAD
rs759149457 CA10172948	680	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1400080824 CA411119805	681	A>G		No	ClinGen Ensembl
rs1312889087 CA411119784	683	P>Q		No	ClinGen gnomAD
CA323074770 rs1040507915	684	T>I		No	ClinGen Ensembl
rs1602701868 CA411119778	684	T>P		No	ClinGen Ensembl
CA10172947 rs776288430	685	A>V		No	ClinGen ExAC gnomAD
CA323074764 rs935308292	689	A>P		No	ClinGen Ensembl
CA10172943 rs772696624	690	N>I		No	ClinGen ExAC TOPMed gnomAD
CA10172944 rs772696624	690	N>S		No	ClinGen ExAC TOPMed gnomAD
rs148564390 CA10172942	693	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10172941 rs779169379	693	A>V		No	ClinGen ExAC gnomAD
CA10172940 rs376740274	695	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA411119654 rs376740274	695	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1484928063 CA411119638	696	G>D		No	ClinGen gnomAD
rs145640648 CA10172939	696	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411119581 rs1602701759	700	S>R		No	ClinGen Ensembl
CA10172936 rs751437216	701	D>N		No	ClinGen ExAC gnomAD
rs777558368 CA411119535	704	D>N		No	ClinGen ExAC TOPMed gnomAD
CA10172935 rs777558368	704	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs752608064 CA10172934	707	S>N		No	ClinGen ExAC gnomAD
CA411119506 rs1233069201	707	S>R		No	ClinGen gnomAD
CA10172932 rs764678525	707	S>R		No	ClinGen ExAC gnomAD
rs752608064 CA10172933	707	S>T		No	ClinGen ExAC gnomAD
rs202101776 CA10172931	709	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs376134530 CA323074642	710	G>S		No	ClinGen TOPMed
rs753424896 CA411119481	711	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA10172930 rs753424896	711	T>S		No	ClinGen ExAC gnomAD
rs1453953521 CA411119479	712	L>V		No	ClinGen gnomAD
CA411119454 rs1257590232	716	Y>C		No	ClinGen TOPMed
rs958569849 CA411119439	718	A>S		No	ClinGen gnomAD
rs958569849 CA323074591	718	A>T		No	ClinGen gnomAD
rs762337844 CA10172925	720	K>E		No	ClinGen ExAC gnomAD
CA10172902 rs769876492	722	V>L		No	ClinGen ExAC gnomAD
CA411118943 rs1602690969	724	L>P		No	ClinGen Ensembl
rs746053932 CA10172901	725	P>S		No	ClinGen ExAC gnomAD
rs926141213 CA411118913	727	M>L		No	ClinGen TOPMed
rs1343654598 CA411118908	727	M>T		No	ClinGen gnomAD
rs926141213 CA323071145	727	M>V		No	ClinGen TOPMed
rs1217788976 CA411118877	729	A>S		No	ClinGen TOPMed
CA323071144 rs544580005	730	K>R		No	ClinGen 1000Genomes gnomAD
rs1439660786 CA411118842	731	G>A		No	ClinGen gnomAD
rs978776560 CA323071143	734	I>M		No	ClinGen TOPMed gnomAD
CA10172900 rs776730828	736	G>S		No	ClinGen ExAC
CA411118766 rs1325614008	737	T>I		No	ClinGen TOPMed
CA411118777 rs1602690854	737	T>P		No	ClinGen Ensembl
rs1395587910 CA411118740	739	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA411118743 rs1395587910	739	T>N		No	ClinGen TOPMed gnomAD
rs1602690834 CA411118749	739	T>P		No	ClinGen Ensembl
CA10172897 rs150730150	740	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778806080 CA10172896	740	R>H		No	ClinGen ExAC gnomAD
CA411118728 rs778806080	740	R>L		No	ClinGen ExAC gnomAD
CA411118707 rs1569151535	742	V>L		No	ClinGen Ensembl
CA323071128 rs958600271	743	G>D		No	ClinGen TOPMed
CA411118684 rs1206377658	745	I>V		No	ClinGen TOPMed
CA411118673 rs1397124382	746	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10172892 rs755605234	748	D>E		No	ClinGen ExAC TOPMed gnomAD
rs779571654 CA10172893	748	D>N		No	ClinGen ExAC gnomAD
CA10172889 rs537706062	755	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10172890 rs537706062	755	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763595475 CA10172886	757	Q>K		No	ClinGen ExAC gnomAD
rs1348069283 CA411118597	758	V>F		No	ClinGen TOPMed gnomAD
CA411118594 rs1602690669	758	V>G		No	ClinGen Ensembl
rs1376413590 CA411118583	760	T>A		No	ClinGen TOPMed
rs765302292 CA10172884	761	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1569151496 CA411118553	764	I>T		No	ClinGen Ensembl
CA10172882 rs776906080	765	Q>L		No	ClinGen ExAC gnomAD
rs755211454 CA10172881	768	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10172880 rs747912637	768	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs755211454 CA411118527	768	R>S		No	ClinGen ExAC TOPMed gnomAD
CA323071052 rs778930247	769	N>H		No	ClinGen Ensembl
CA411118520 rs1377416308	769	N>S		No	ClinGen gnomAD
rs1466884836 CA411118413	770	S>R		No	ClinGen gnomAD
rs754396935 CA10172848	771	F>S		No	ClinGen ExAC gnomAD
CA411118393 rs766392381	772	G>C		No	ClinGen ExAC TOPMed gnomAD
CA10172847 rs766392381	772	G>R		No	ClinGen ExAC TOPMed gnomAD
CA411118388 rs1270787153	772	G>V		No	ClinGen gnomAD
CA411118370 rs937210340	774	A>D		No	ClinGen gnomAD
CA323069445 rs937210340	774	A>V		No	ClinGen gnomAD
CA323069431 rs750580486	776	A>P		No	ClinGen ExAC TOPMed gnomAD
CA10172845 rs750580486	776	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs2857465 CA411118342	777	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2857465 CA411118340	777	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA323069404 rs2857465 VAR_062816	777	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs776653588 CA10172840	779	L>F		No	ClinGen ExAC TOPMed gnomAD
rs776653588 CA10172839	779	L>I		No	ClinGen ExAC TOPMed gnomAD
CA10172838 rs535159123	780	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs746583431 CA10172837	781	V>I		No	ClinGen ExAC TOPMed gnomAD
rs546260476 CA10172835	783	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs748511525 CA10172834	783	A>V		No	ClinGen ExAC gnomAD
rs1486785557 CA411118212	787	P>H		No	ClinGen TOPMed
CA10172831 rs369442816	788	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA411118159 rs1418237459	791	V>L		No	ClinGen TOPMed
CA323069321 rs1035639687	792	E>A		No	ClinGen TOPMed
CA411118117 rs1602683336	794	S>P		No	ClinGen Ensembl
CA10172828 rs750563769	796	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1232198395 CA411118079	797	L>P		No	ClinGen gnomAD
CA411118076 COSM1183099 rs1347341560	798	S>G	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs905931994 CA323069298	798	S>R		No	ClinGen TOPMed
rs767707068 CA10172827	799	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs922218153 CA323069292	801	G>A		No	ClinGen Ensembl
CA10172825 rs751840443	802	S>L		No	ClinGen ExAC gnomAD
rs1044496543 CA323069290	805	K>R		No	ClinGen TOPMed
CA411118001 rs1288782564	806	M>I		No	ClinGen TOPMed
CA323069285 rs866036616	808	P>L		No	ClinGen Ensembl
CA323069270 rs996045088	813	Q>H		No	ClinGen TOPMed
CA411117854 rs1602682295	814	V>M		No	ClinGen Ensembl
COSM1238199 rs1039709063 CA323068966	816	V>M	oesophagus [Cosmic]	No	ClinGen cosmic curated Ensembl
CA411117824 rs1397522805	818	N>Y		No	ClinGen TOPMed
CA10172796 rs369391302	819	N>D		No	ClinGen ESP ExAC gnomAD
rs763283898 CA10172794	821	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA411117735 rs1368547368	824	Y>N		No	ClinGen TOPMed
CA10172793 rs775876230	827	T>A		No	ClinGen ExAC gnomAD
CA411117674 rs775876230	827	T>P		No	ClinGen ExAC gnomAD
rs140969929 CA323068940	831	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs140969929 CA10172791	831	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs781674082 CA10172790	832	H>N		No	ClinGen ExAC gnomAD
CA10172789 rs770850540	834	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1435411708 CA411117617	835	F>L		No	ClinGen gnomAD
rs747171072 CA411117614	836	V>L		No	ClinGen ExAC TOPMed gnomAD
rs747171072 CA10172788	836	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA411117584 rs1210894621	840	K>R		No	ClinGen TOPMed gnomAD
CA411117546 rs1273208557	843	R>Q		No	ClinGen TOPMed gnomAD
rs748320683 CA10172767	843	R>W		No	ClinGen ExAC TOPMed gnomAD
rs148036031 CA323068143	846	F>Y		No	ClinGen ESP TOPMed
CA10172766 rs542971487	848	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411117509 rs1602679914	849	T>A		No	ClinGen Ensembl
CA411117504 rs1300786213	850	W>R		No	ClinGen gnomAD
rs374288161 CA10172764	852	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1303179849 CA411117479	853	I>V		No	ClinGen gnomAD
rs780974385 CA10172762	854	P>H		No	ClinGen ExAC gnomAD
CA411117470 rs780974385	854	P>L		No	ClinGen ExAC gnomAD
rs1450719656 CA411117473	854	P>S		No	ClinGen TOPMed
CA411117456 rs1431703119	856	E>A		No	ClinGen gnomAD
rs773948769 CA323068097	856	E>D		No	ClinGen Ensembl
rs1308644175 CA411117460 COSM1484140	856	E>K	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA411117438 rs1373771668	858	E>D		No	ClinGen TOPMed gnomAD
CA411117409 rs1173223996	862	Q>H		No	ClinGen gnomAD
CA10172761 rs753319194	863	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1379683295 CA411117402	863	I>M		No	ClinGen gnomAD
CA411117387 rs1361177946	865	D>E		No	ClinGen gnomAD
CA411117383 rs1180124097	866	C>Y		No	ClinGen gnomAD
rs763612751 CA10172759	867	P>R		No	ClinGen ExAC TOPMed gnomAD
CA10172760 rs200793347	867	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411117373 rs568723630	868	L>F		No	ClinGen gnomAD
rs568723630 CA323068050	868	L>V		No	ClinGen gnomAD
rs1277621209 CA411117357	870	A>G		No	ClinGen gnomAD
rs1199492073 CA411117355	871	E>K		No	ClinGen gnomAD
CA411117333 rs1369746751	872	A>S		No	ClinGen gnomAD
rs143578268 CA10172728	873	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs143578268 CA10172729	873	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs201912976 CA10172727 COSM1033158	873	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1210359734 CA411117289	879	S>G		No	ClinGen TOPMed gnomAD
rs140713190 CA323067733 COSM108800	884	T>A	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA10172725 rs746846617	884	T>I		No	ClinGen ExAC gnomAD
rs148914816 CA10172723	886	A>T	Variant assessed as Somatic; 0.001017 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA323067707 rs1003185341	887	K>R		No	ClinGen TOPMed gnomAD
CA411117210 rs1602679114	890	V>G		No	ClinGen Ensembl
rs754456794 CA10172721	890	V>L		No	ClinGen ExAC TOPMed gnomAD
rs754456794 CA10172720	890	V>M		No	ClinGen ExAC TOPMed gnomAD
CA10172719 rs753460922	892	G>S		No	ClinGen ExAC gnomAD
rs1045225111 CA323067690	894	D>E		No	ClinGen TOPMed
rs756483924 CA10172717	895	M>V		No	ClinGen ExAC TOPMed gnomAD
CA323067685 rs558578005	900	L>V		No	ClinGen 1000Genomes
CA411117070 rs1324758801	903	T>P		No	ClinGen gnomAD
CA10172714 COSM1183098 rs762372219	904	N>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA411117048 rs762372219	904	N>T		No	ClinGen ExAC gnomAD
rs1002753914 CA323067666	905	G>D		No	ClinGen Ensembl
CA10172712 rs764213357	905	G>R		No	ClinGen ExAC TOPMed gnomAD
CA10172713 rs764213357	905	G>S		No	ClinGen ExAC TOPMed gnomAD
CA323067660 rs201001783	907	W>R		No	ClinGen Ensembl
CA411116994 rs905377582	908	V>L		No	ClinGen TOPMed gnomAD
rs905377582 CA323067651	908	V>M		No	ClinGen TOPMed gnomAD
CA10172711 rs762948224	909	L>V		No	ClinGen ExAC TOPMed gnomAD
CA10172710 rs144652436	910	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs142354304 COSM1535315 CA10172707	913	R>Q	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs760486493 CA10172708	913	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10172706 rs771876281	915	Q>L		No	ClinGen ExAC gnomAD
CA411116915 rs771876281	915	Q>R		No	ClinGen ExAC gnomAD
rs1204536209 COSM1033157 CA411116898	916	P>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA411116865 rs1047094085	919	P>A		No	ClinGen gnomAD
rs1047094085 CA323067606	919	P>S		No	ClinGen gnomAD
CA411116858 rs1294943747	920	S>G		No	ClinGen TOPMed
rs191827767 CA10172704	922	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411116824 rs1232433247	922	T>S		No	ClinGen gnomAD
CA323066761 rs892301056	923	D>H		No	ClinGen TOPMed gnomAD
rs758116414 CA10172630	927	S>T		No	ClinGen ExAC TOPMed gnomAD
CA411116216 rs1481768320	931	R>G		No	ClinGen TOPMed gnomAD
CA10172629 rs375322836	931	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs765237420 CA10172628	932	A>T		No	ClinGen ExAC gnomAD
rs372307880 CA323065818	932	A>V		No	ClinGen ESP TOPMed
CA411116135 rs1341050165	937	Q>H		No	ClinGen gnomAD
CA411116130 rs1253952718	938	H>D		No	ClinGen TOPMed gnomAD
CA411116128 rs1253952718	938	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA10172625 rs765919036	939	V>A		No	ClinGen ExAC gnomAD
CA411116112 rs375110004	939	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10172626 rs375110004	939	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1407966631 CA411116081	941	Q>R		No	ClinGen gnomAD
rs1308738308 CA411116045	944	E>K		No	ClinGen gnomAD
rs1411838072 CA411116020	946	I>F		No	ClinGen gnomAD
CA411116004 rs1172283369	948	K>R		No	ClinGen TOPMed gnomAD

No associated diseases with Q10567

1 regional properties for Q10567

Type	Name	Position	InterPro Accession
domain	Olfactomedin-like domain	230 - 489	IPR003112

Functions

		Description
EC Number
Subcellular Localization	Golgi apparatus Cytoplasmic vesicle, clathrin-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic side	Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
AP-1 adaptor complex	A heterotetrameric AP-type membrane coat adaptor complex that consists of beta1, gamma, mu1 and sigma1 subunits and links clathrin to the membrane surface of a vesicle; vesicles with AP-1-containing coats are normally found primarily in the trans-Golgi network. In at least humans, the AP-1 complex can be heterogeneric due to the existence of multiple subunit isoforms encoded by different genes (gamma1 and gamma2, mu1A and mu1B, and sigma1A, sigma1B and sigma1C).
cytoplasmic vesicle membrane	The lipid bilayer surrounding a cytoplasmic vesicle.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
early endosome	A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways.
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.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
lysosomal membrane	The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
trans-Golgi network membrane	The lipid bilayer surrounding any of the compartments that make up the trans-Golgi network.

2 GO annotations of molecular function

Name	Definition
clathrin binding	Binding to a clathrin heavy or light chain, the main components of the coat of coated vesicles and coated pits, and which also occurs in synaptic vesicles.
protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.

8 GO annotations of biological process

Name	Definition
basolateral protein secretion	The controlled release of proteins from a cell at the sides which interface adjacent cells and near the base.
determination of left/right symmetry	The establishment of an organism's body plan or part of an organism with respect to the left and right halves. The pattern can either be symmetric, such that the halves are mirror images, or asymmetric where the pattern deviates from this symmetry.
heart development	The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood.
intracellular protein transport	The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell.
kidney development	The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and/or excretes the end products of body metabolism in the form of urine.
melanosome assembly	The aggregation, arrangement and bonding together of a set of components to form a melanosome, a tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored.
platelet dense granule organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a platelet dense granule. A platelet dense granule is an electron-dense granule occurring in blood platelets that stores and secretes adenosine nucleotides and serotonin. They contain a highly condensed core consisting of serotonin, histamine, calcium, magnesium, ATP, ADP, pyrophosphate and membrane lysosomal proteins.
vesicle-mediated transport	A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P27351	APL1	AP-2 complex subunit beta	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q13367	AP3B2	AP-3 complex subunit beta-2	Homo sapiens (Human)	PR

10	20	30	40	50	60
MTDSKYFTTT	KKGEIFELKA	ELNSDKKEKK	KEAVKKVIAS	MTVGKDVSAL	FPDVVNCMQT
70	80	90	100	110	120
DNLELKKLVY	LYLMNYAKSQ	PDMAIMAVNT	FVKDCEDPNP	LIRALAVRTM	GCIRVDKITE
130	140	150	160	170	180
YLCEPLRKCL	KDEDPYVRKT	AAVCVAKLHD	INAQLVEDQG	FLDTLKDLIS	DSNPMVVANA
190	200	210	220	230	240
VAALSEIAES	HPSSNLLDLN	PQSINKLLTA	LNECTEWGQI	FILDCLANYM	PKDDREAQSI
250	260	270	280	290	300
CERVTPRLSH	ANSAVVLSAV	KVLMKFMEML	SKDLDYYGTL	LKKLAPPLVT	LLSAEPELQY
310	320	330	340	350	360
VALRNINLIV	QKRPEILKHE	MKVFFVKYND	PIYVKLEKLD	IMIRLASQAN	IAQVLAELKE
370	380	390	400	410	420
YATEVDVDFV	RKAVRAIGRC	AIKVEQSAER	CVSTLLDLIQ	TKVNYVVQEA	IVVIKDIFRK
430	440	450	460	470	480
YPNKYESVIA	TLCENLDSLD	EPEARAAMIW	IVGEYAERID	NADELLESFL	EGFHDESTQV
490	500	510	520	530	540
QLQLLTAIVK	LFLKKPTETQ	ELVQQVLSLA	TQDSDNPDLR	DRGYIYWRLL	STDPVAAKEV
550	560	570	580	590	600
VLAEKPLISE	ETDLIEPTLL	DELICYIGTL	ASVYHKPPSA	FVEGGRGVVH	KSLPPRTASS
610	620	630	640	650	660
ESAESPETAP	TGAPPGEQPD	VIPAQGDLLG	DLLNLDLGPP	VSGPPLATSS	VQMGAVDLLG
670	680	690	700	710	720
GGLDSLMGDE	PEGIGGTNFV	APPTAAVPAN	LGAPIGSGLS	DLFDLTSGVG	TLSGSYVAPK
730	740	750	760	770	780
AVWLPAMKAK	GLEISGTFTR	QVGSISMDLQ	LTNKALQVMT	DFAIQFNRNS	FGLAPAAPLQ
790	800	810	820	830	840
VHAPLSPNQT	VEISLPLSTV	GSVMKMEPLN	NLQVAVKNNI	DVFYFSTLYP	LHILFVEDGK
850	860	870	880	890	900
MDRQMFLATW	KDIPNENEAQ	FQIRDCPLNA	EAASSKLQSS	NIFTVAKRNV	EGQDMLYQSL
910	920	930	940
KLTNGIWVLA	ELRIQPGNPS	CTDLELSLKC	RAPEVSQHVY	QAYETILKN