AiPD: Autoinhibited Protein Database

Q9HCJ5

Gene name	ZSWIM6
Protein name	Zinc finger SWIM domain-containing protein 6
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:57688
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

37-112 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

37-112 (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 Q9HCJ5

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9HCJ5-F1	Predicted				AlphaFoldDB

667 variants for Q9HCJ5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs779283808 RCV002560247 RCV001573858 RCV001198461	56	A>missing	Acromelic frontonasal dysostosis Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs754658198 RCV000999645 CA3278300	136	G>V	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs772099709 RCV000662182	147	A>missing	Acromelic frontonasal dysostosis [ClinVar]	Yes	ClinVar dbSNP
RCV002517354 rs864309616 RCV001573694 RCV000202959	153	G>missing	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV002524967 rs864309616 RCV000513593	154	G>missing	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV001336002 rs1747601529	228	H>R	Acromelic frontonasal dysostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001262755 RCV002069379 rs1046738327 CA119662041	446	A>V	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000964469 RCV000709778 CA3278396 rs140760439	636	V>M	Acromelic frontonasal dysostosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs371478900 CA119663027 RCV001871880 RCV001336001	664	M>T	Acromelic frontonasal dysostosis [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
CA3278438 RCV001331160 rs756935198	761	R>W	Acromelic frontonasal dysostosis [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs748121822 CA119663859 RCV001256034 RCV001839036 RCV001879950 RCV002246247	853	E>K	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features Intellectual disability [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1554041295 RCV000760560 CA359946038 RCV000590997 RCV000578491	913	R>*	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features ZSWIM6 related intellectual disability [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_080756	913	R>del	NEDMAGA [UniProt]	Yes	UniProt
RCV000790964 rs745988643 RCV002067390 CA3278486	961	S>G	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001253693 CA119664266 rs896504353 RCV000958942	1077	A>V	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA170707 RCV000624254 RCV000478201 RCV000143865 rs587777695 VAR_071802	1163	R>W	Acromelic frontonasal dysostosis Inborn genetic diseases AFND [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1291036973 CA359939787	3	E>*		No	ClinGen gnomAD
TCGA novel	6	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1165096297 CA359939810	6	Q>R		No	ClinGen TOPMed gnomAD
rs1377400202 CA359939814	7	Q>*		No	ClinGen gnomAD
rs1483067522 CA359939824	8	P>T		No	ClinGen TOPMed
rs1219369551 CA359939832	9	P>L		No	ClinGen TOPMed
CA359939828 rs1579933287	9	P>T		No	ClinGen Ensembl
rs943024318 CA119631603	10	P>H		No	ClinGen TOPMed gnomAD
rs943024318 CA359939838	10	P>L		No	ClinGen TOPMed gnomAD
rs1038709799 CA119631606	11	A>T		No	ClinGen TOPMed gnomAD
CA359939859 rs1345013612	14	L>F		No	ClinGen TOPMed
CA359939874 rs1361775935	16	C>F		No	ClinGen gnomAD
CA359939879 rs1291852808	17	R>G		No	ClinGen TOPMed
CA359939880 rs1291852808	17	R>W		No	ClinGen TOPMed
CA359939894 rs1285335711	19	G>A		No	ClinGen gnomAD
RCV001539765 rs565100893 RCV000203191	25	G>missing		No	ClinVar dbSNP
rs1292739344 CA359939935	26	G>S		No	ClinGen TOPMed
rs1425234738 CA359939940	27	S>G		No	ClinGen TOPMed
CA359939948 rs1456197449	28	S>G		No	ClinGen TOPMed
CA359939950 rs1312897937	28	S>N		No	ClinGen TOPMed
CA359939956 rs963100061	29	G>C		No	ClinGen TOPMed gnomAD
rs963100061 CA119631627	29	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs980767066 CA119631629	31	G>V		No	ClinGen TOPMed gnomAD
CA359939971 rs1248375396	32	G>S		No	ClinGen gnomAD
RCV000500002 rs528020839 RCV001707712	33	G>missing		No	ClinVar dbSNP
rs1313218666 CA359939977	33	G>S		No	ClinGen gnomAD
rs1033632244 CA359939990	35	G>C		No	ClinGen TOPMed gnomAD
rs1033632244 CA119631631	35	G>S		No	ClinGen TOPMed gnomAD
CA359940003 rs1300771908	37	G>D		No	ClinGen TOPMed
rs1378024753 CA359940000	37	G>S		No	ClinGen TOPMed
rs1300771908 CA359940005	37	G>V		No	ClinGen TOPMed
CA359940010 rs1359304738	38	Y>C		No	ClinGen TOPMed
CA359940022 rs1228304711	40	S>A		No	ClinGen TOPMed gnomAD
rs1228304711 CA359940023	40	S>T		No	ClinGen TOPMed gnomAD
rs1251801615 CA359940028	41	A>T		No	ClinGen TOPMed gnomAD
CA359940033 rs1189008336	41	A>V		No	ClinGen TOPMed
CA359940042 rs1422977600	43	R>G		No	ClinGen TOPMed
rs960650085 CA119631635	43	R>Q		No	ClinGen TOPMed
CA359940047 rs1253791362	44	P>A		No	ClinGen TOPMed
rs991997128 CA119631637	44	P>L		No	ClinGen TOPMed
rs913731645 CA359940061	46	P>L		No	ClinGen TOPMed
CA359940060 rs913731645	46	P>Q		No	ClinGen TOPMed
CA119631638 rs913731645	46	P>R		No	ClinGen TOPMed
rs1483697647 CA359940058	46	P>S		No	ClinGen TOPMed
rs1344978295 CA359940062	47	R>G		No	ClinGen TOPMed
CA359940072 rs1481614683	48	A>E		No	ClinGen gnomAD
CA359940067 rs1244678082	48	A>T		No	ClinGen TOPMed
rs1579933532 CA359940073	49	G>S		No	ClinGen Ensembl
rs1194009730 CA359940089	51	A>V		No	ClinGen TOPMed gnomAD
CA119631643 rs945198780	52	A>V		No	ClinGen TOPMed
rs1457315319 CA359940114	56	A>S		No	ClinGen TOPMed
CA359940136 rs1185007277	59	G>C		No	ClinGen gnomAD
rs1424620932 CA359940140	60	G>S		No	ClinGen TOPMed
rs943106805 CA119631650	61	A>G		No	ClinGen TOPMed gnomAD
CA359940155 rs1161891703	62	A>G		No	ClinGen gnomAD
rs1252593637 CA359940158	63	L>V		No	ClinGen TOPMed
rs764433036 CA3278278	64	G>V		No	ClinGen ExAC gnomAD
CA359940184 rs1209838989	67	P>Q		No	ClinGen TOPMed
CA359940190 rs1487785472	68	P>L		No	ClinGen TOPMed
rs1487785472 CA359940188	68	P>Q		No	ClinGen TOPMed
CA359940194 rs1335106142	69	G>D		No	ClinGen TOPMed
CA359940214 rs1308684590	72	Q>R		No	ClinGen gnomAD
rs1579933628 CA359940227	74	P>T		No	ClinGen Ensembl
CA359940261 rs1388407116	79	D>G		No	ClinGen TOPMed
CA359940266 rs1295102505	80	I>V		No	ClinGen TOPMed
rs1310313047 CA359940277	81	A>V		No	ClinGen gnomAD
CA359940284 rs1454947270	83	R>C		No	ClinGen TOPMed gnomAD
CA359940295 rs1157273146	84	R>S		No	ClinGen TOPMed
rs1263486477 CA359940302	85	V>A		No	ClinGen gnomAD
TCGA novel	87	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1279014457 CA359940309	87	E>K		No	ClinGen Ensembl
CA359940324 rs1176369047	88	K>N		No	ClinGen gnomAD
CA359940338 rs1412871150	90	P>R		No	ClinGen TOPMed
rs778475893 CA3278284	93	R>C		No	ClinGen ExAC gnomAD
CA359940385 rs1414352823	97	R>C		No	ClinGen TOPMed gnomAD
TCGA novel	97	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs934240229 CA119631663	97	R>L		No	ClinGen TOPMed
CA359940383 rs1414352823	97	R>S		No	ClinGen TOPMed gnomAD
rs1408730986 CA359940393	98	F>S		No	ClinGen gnomAD
rs1464317441 CA359940400	99	E>G		No	ClinGen gnomAD
rs1266592596 CA359940397	99	E>Q		No	ClinGen TOPMed
rs1330929152 CA359940406	100	R>C		No	ClinGen gnomAD
CA359940405 rs1330929152	100	R>G		No	ClinGen gnomAD
rs1355267695 CA359940409	100	R>H		No	ClinGen gnomAD
rs1444482196 CA359940421	102	P>Q		No	ClinGen gnomAD
CA3278288 rs746825579	103	E>G		No	ClinGen ExAC
rs1365446571 CA359940430	104	P>T		No	ClinGen gnomAD
CA359940440 rs1283738148	105	V>A		No	ClinGen gnomAD
CA359940444 rs1196443245	106	Q>*		No	ClinGen gnomAD
CA359940447 rs1257032805	106	Q>R		No	ClinGen gnomAD
CA3278292 rs769821581	108	R>C		No	ClinGen ExAC gnomAD
rs1478010760 CA359940458	108	R>H		No	ClinGen gnomAD
rs1478010760 CA359940460	108	R>L		No	ClinGen gnomAD
CA359940461 rs1200766544	109	I>V		No	ClinGen gnomAD
CA359940468 rs1477050035	110	V>I		No	ClinGen gnomAD
rs1397513577 CA359940478	111	Y>F		No	ClinGen gnomAD
CA359940485 rs1411829853	112	W>L		No	ClinGen gnomAD
CA359940492 rs1321718582	113	S>P		No	ClinGen gnomAD
rs1387721357 CA359940516	116	R>P		No	ClinGen TOPMed
rs1339694314 CA359940541	120	E>A		No	ClinGen TOPMed gnomAD
CA359940542 rs1339694314	120	E>G		No	ClinGen TOPMed gnomAD
CA359940565 rs1379419636	123	M>T		No	ClinGen TOPMed
CA359940607 rs1450533686	129	T>A		No	ClinGen TOPMed gnomAD
CA359940609 rs1246635200	129	T>N		No	ClinGen TOPMed
rs1205380238 CA359940612	130	G>S		No	ClinGen TOPMed gnomAD
TCGA novel	132	G>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3278298 rs767935150	132	G>R		No	ClinGen ExAC gnomAD
rs1561194047 CA359940632	133	A>D		No	ClinGen Ensembl
rs1487568033 CA359940629	133	A>T		No	ClinGen TOPMed gnomAD
rs1561194047 CA359940634	133	A>V		No	ClinGen Ensembl
CA359940638 rs1373969893	134	A>E		No	ClinGen gnomAD
rs1161662183 CA359940649	136	G>C		No	ClinGen gnomAD
rs1425385185 CA359940654	137	P>S		No	ClinGen gnomAD
CA3278303 rs757801604	139	D>N		No	ClinGen ExAC gnomAD
CA359940675 rs1436953208	140	D>G		No	ClinGen TOPMed
CA359940672 rs1317426621	140	D>H		No	ClinGen gnomAD
CA359940673 rs1317426621	140	D>Y		No	ClinGen gnomAD
rs1327267898 CA359940680	141	S>C		No	ClinGen TOPMed
rs1327267898 CA359940679	141	S>G		No	ClinGen TOPMed
CA359940684 rs1326781747	141	S>I		No	ClinGen gnomAD
rs1432545668 CA359940685	141	S>R		No	ClinGen gnomAD
rs1272322891 CA359940702	144	G>A		No	ClinGen TOPMed
CA3278306 rs777715721	144	G>S		No	ClinGen ExAC gnomAD
rs1339874240 CA359940709	145	G>D		No	ClinGen TOPMed
rs1446165351 CA359940714	146	G>A		No	ClinGen TOPMed
CA359940758 rs1430663925	154	G>S		No	ClinGen TOPMed gnomAD
CA359940769 rs1288894654	155	S>F		No	ClinGen TOPMed
CA359940798 rs1579933968	160	A>G		No	ClinGen Ensembl
CA359940819 rs1579933996	164	A>P		No	ClinGen Ensembl
rs1579934054 CA359940830	166	A>T		No	ClinGen Ensembl
CA359940834 rs1224371923	166	A>V		No	ClinGen TOPMed
rs1346140595 CA359940837	167	T>A		No	ClinGen TOPMed gnomAD
rs1439180609 CA359940844	168	S>A		No	ClinGen TOPMed
rs1262666805 CA359940873	173	A>P		No	ClinGen TOPMed
CA359940883 rs1216003604	174	A>G		No	ClinGen gnomAD
CA359940878 rs1311408703	174	A>T		No	ClinGen gnomAD
rs1358132237 CA359940889	175	A>V		No	ClinGen TOPMed
CA359940898 rs1167757057	177	A>T		No	ClinGen TOPMed
CA359940904 rs1215325430	178	A>S		No	ClinGen TOPMed gnomAD
rs1213029953 CA359940926	182	A>S		No	ClinGen TOPMed
TCGA novel	183	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1579934182 CA359940934	183	A>S		No	ClinGen Ensembl
CA359940937 rs1579934185	183	A>V		No	ClinGen Ensembl
CA359940950 rs1296722699	186	A>S		No	ClinGen TOPMed
rs776194131 CA119631701	186	A>V		No	ClinGen TOPMed gnomAD
CA359940965 rs1377907738	188	A>G		No	ClinGen TOPMed
rs1300603630 CA359940970	189	P>Q		No	ClinGen TOPMed
rs1579934206 CA359940991	193	A>T		No	ClinGen Ensembl
rs1445409270 CA359941002	194	A>V		No	ClinGen gnomAD
rs1378516846 CA359941003 CA359941004	195	G>R		No	ClinGen TOPMed gnomAD
rs1579934226 CA359941012	196	A>G		No	ClinGen Ensembl
rs976065857 CA119631708	196	A>S		No	ClinGen TOPMed gnomAD
CA119631706 rs976065857	196	A>T		No	ClinGen TOPMed gnomAD
rs1303910746 CA359941028	199	G>R		No	ClinGen TOPMed gnomAD
rs1367538509 CA359941034	200	G>R		No	ClinGen TOPMed gnomAD
rs1157915201 CA359941046	201	D>E		No	ClinGen TOPMed gnomAD
CA359941051 rs1402248371	202	E>G		No	ClinGen gnomAD
CA359941047 rs1385497734	202	E>K		No	ClinGen gnomAD
rs1203707535 CA359941059	203	T>R		No	ClinGen TOPMed
CA359941062 rs1481874382	204	R>W		No	ClinGen TOPMed
CA359941072 rs1252260012	206	P>A		No	ClinGen TOPMed
CA359941087 rs1221249652	208	R>C		No	ClinGen TOPMed
rs1273033680 CA359941100	210	G>A		No	ClinGen gnomAD
CA359941108 rs1320769417	211	I>M		No	ClinGen TOPMed
CA359941131 rs1374002522	215	E>V		No	ClinGen gnomAD
CA359941136 rs1234718171	216	S>G		No	ClinGen TOPMed
rs1239039943 CA359941142	216	S>R		No	ClinGen TOPMed gnomAD
CA359941146 rs1261825773	217	G>D		No	ClinGen TOPMed gnomAD
CA359941154 rs1398459382	218	C>F		No	ClinGen TOPMed
rs1013468013 CA359941157	219	V>I		No	ClinGen TOPMed
rs1013468013 CA119631712	219	V>L		No	ClinGen TOPMed
rs1262865395 CA359941174	221	N>S		No	ClinGen gnomAD
CA359941178 rs1185631442	222	V>I		No	ClinGen gnomAD
TCGA novel	226	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359941262 rs1421046512	232	T>A		No	ClinGen TOPMed gnomAD
rs1461135651 CA359941300	238	I>V		No	ClinGen gnomAD
CA3278319 rs768063940	240	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1268038231 CA359941319	241	E>K		No	ClinGen TOPMed
CA359941328 rs1385650020	242	P>A		No	ClinGen gnomAD
CA119657085 rs951091051	244	T>I		No	ClinGen TOPMed
CA359941451 rs1313624729	259	S>L		No	ClinGen TOPMed
CA359941452 rs1228404037	260	V>M		No	ClinGen gnomAD
rs1417645666 CA359941473	263	S>G		No	ClinGen TOPMed
COSM1234846 rs1487546158 CA359941549	273	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1580013859 CA359941602	281	Y>S		No	ClinGen Ensembl
CA359941610 rs1476285501	282	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1490478004 CA359941619	283	I>M		No	ClinGen gnomAD
rs1387118155 CA359941629	285	K>T		No	ClinGen gnomAD
rs1259358046 CA359941679	292	H>R		No	ClinGen gnomAD
rs1162324565 CA359941813	311	V>I		No	ClinGen TOPMed gnomAD
rs764968657 CA3278322	319	H>R		No	ClinGen ExAC TOPMed gnomAD
CA359941871 rs1383059068	319	H>Y		No	ClinGen gnomAD
CA359941881 rs1320078704	320	T>R		No	ClinGen gnomAD
CA359941932 rs1292536723	328	K>I		No	ClinGen gnomAD
rs1374402091 CA359941958	332	E>K		No	ClinGen gnomAD
TCGA novel	334	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	338	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1046915074 CA119657093	341	N>S		No	ClinGen gnomAD
rs1459741854 CA359942119	354	S>G		No	ClinGen gnomAD
rs1202628407 CA359942129	355	I>V		No	ClinGen gnomAD
CA359942134 rs1243294136	356	D>N		No	ClinGen gnomAD
TCGA novel	358	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751553216 CA3278327	359	N>D		No	ClinGen ExAC gnomAD
rs1407916833 CA359942220	366	E>D		No	ClinGen gnomAD
TCGA novel	366	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1161781784 CA359942274	374	L>V		No	ClinGen TOPMed gnomAD
rs1245245248 CA359942295	377	S>Y		No	ClinGen TOPMed gnomAD
CA359942309 rs1274993723	379	G>D		No	ClinGen TOPMed
CA359942315 rs1408484978	380	G>E		No	ClinGen gnomAD
CA359942312 rs1337629732	380	G>R		No	ClinGen TOPMed gnomAD
rs1290855573 CA359942335 COSM1438071	383	G>R	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1278992925 CA359942356 COSM3768835	386	K>R	liver [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1372575470 CA359942362	387	Q>K		No	ClinGen gnomAD
CA359942376 rs1298020865	389	N>H		No	ClinGen TOPMed
CA359942405 rs1224252342	393	A>T		No	ClinGen gnomAD
rs373448587 CA3278340	396	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761136464 CA3278339	396	R>W		No	ClinGen ExAC gnomAD
rs1021596845 CA119659324	407	A>G		No	ClinGen TOPMed gnomAD
TCGA novel	408	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762578604 CA3278342	411	T>N		No	ClinGen ExAC TOPMed gnomAD
CA3278343 rs763658177	413	I>V		No	ClinGen ExAC gnomAD
CA359942607 rs1580037389	420	D>A		No	ClinGen Ensembl
rs761786081 CA3278345	421	P>L		No	ClinGen ExAC gnomAD
CA3278344 rs751036403	421	P>T		No	ClinGen ExAC gnomAD
rs1474582216 CA359942617	422	R>C	Variant assessed as Somatic; 6.547e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA119659327 rs878885866	422	R>H		No	ClinGen TOPMed
CA359942621 rs1167550225	423	L>M		No	ClinGen TOPMed gnomAD
CA359942639 rs767463992	426	W>G		No	ClinGen ExAC gnomAD
rs767463992 CA3278346	426	W>R		No	ClinGen ExAC gnomAD
CA119659329 rs988985707	427	R>Q		No	ClinGen gnomAD
rs576961780 CA119659328 COSM306080	427	R>W	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes
CA359942649 rs866469065	428	Q>E		No	ClinGen TOPMed gnomAD
rs866469065 CA119659330	428	Q>K		No	ClinGen TOPMed gnomAD
rs1580037528 CA359942660	429	Q>R		No	ClinGen Ensembl
rs1332596435 CA359942671	431	T>A		No	ClinGen TOPMed gnomAD
CA359942670 rs1332596435	431	T>S		No	ClinGen TOPMed gnomAD
rs1428295979 CA359942681	432	A>V		No	ClinGen gnomAD
rs904124463 CA119659333	433	M>V		No	ClinGen TOPMed
rs1362151427 CA359942733	439	Q>H		No	ClinGen gnomAD
rs1242934936 CA359943084	448	W>C		No	ClinGen gnomAD
rs1476488562 CA359943103	451	I>V		No	ClinGen gnomAD
CA359943129 rs967924900	454	N>K		No	ClinGen TOPMed gnomAD
CA359943135 rs1306140927	455	P>L		No	ClinGen TOPMed
CA359943136 rs1181871833	456	H>N		No	ClinGen gnomAD
CA359943138 rs1181871833	456	H>Y		No	ClinGen gnomAD
rs1431349605 CA359943190	462	K>N		No	ClinGen TOPMed
rs1424005539 CA359943191	463	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	467	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs538889252 CA3278351	467	K>T		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	472	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1392712028 CA359942830	473	N>S		No	ClinGen gnomAD
CA359942841 rs1369897766	474	S>R		No	ClinGen TOPMed
rs1436800725 CA359942882	480	W>*		No	ClinGen gnomAD
rs1326690623 CA359942877	480	W>R		No	ClinGen gnomAD
CA359942895 rs1312352089	482	D>H		No	ClinGen gnomAD
CA119662044 rs370738954	485	H>Q		No	ClinGen TOPMed gnomAD
rs779185700 CA3278352	488	E>Q		No	ClinGen ExAC
CA359942953 rs1245985227	490	P>L		No	ClinGen gnomAD
rs941118270 CA119662045	491	N>H		No	ClinGen TOPMed gnomAD
CA3278353 rs201912422	491	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs964621464 CA119662046	494	N>S		No	ClinGen TOPMed gnomAD
CA359942983 rs1466462272	495	A>P		No	ClinGen gnomAD
rs190882707 COSM1069227 CA119662047	495	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes gnomAD
CA359942992 rs1242683919	497	P>S		No	ClinGen gnomAD
CA119662048 rs1003655888	498	Q>H		No	ClinGen gnomAD
rs1185433684 CA359943008	499	G>D		No	ClinGen gnomAD
CA359943013 rs1220788564	500	A>S		No	ClinGen TOPMed
rs1432334308 CA359943017	501	N>H		No	ClinGen gnomAD
CA359943021 rs1370146086	501	N>S		No	ClinGen gnomAD
rs1468501760 CA359943046	504	Q>H		No	ClinGen gnomAD
CA119662489 rs1049726029	506	S>A		No	ClinGen TOPMed
CA119662490 rs891217658	507	S>L		No	ClinGen TOPMed gnomAD
CA119662491 rs866333941	510	P>T		No	ClinGen TOPMed gnomAD
rs1272205055 CA359943270	512	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1248470209 CA359943281	514	V>L		No	ClinGen gnomAD
rs1580062599 CA359943294	516	T>P		No	ClinGen Ensembl
rs1278674354 CA359943309	518	A>G		No	ClinGen TOPMed
rs1200081412 CA359943328	521	A>S		No	ClinGen TOPMed gnomAD
rs1200081412 COSM1438072 CA359943326	521	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1304027051 CA359943333	522	C>R		No	ClinGen TOPMed
CA359943339 rs1173923166	522	C>W		No	ClinGen gnomAD
CA359943340 rs1428199352	523	D>N		No	ClinGen TOPMed gnomAD
CA359943342 rs1428199352	523	D>Y		No	ClinGen TOPMed gnomAD
rs766880699 CA3278364	528	D>H		No	ClinGen ExAC gnomAD
rs1171607746 CA359943393	529	S>R		No	ClinGen gnomAD
rs1393682843 CA359943391	529	S>T		No	ClinGen gnomAD
CA359943417 rs1580062677	533	H>N		No	ClinGen Ensembl
CA359943438 rs1330156109	535	I>M		No	ClinGen TOPMed gnomAD
CA359943448 rs1352809441	537	S>G		No	ClinGen gnomAD
rs1352809441 CA359943447	537	S>R		No	ClinGen gnomAD
CA119662493 rs970962423	543	Y>C		No	ClinGen TOPMed
rs1229099763 CA359943502	544	C>F		No	ClinGen Ensembl
rs190856393 CA3278366	546	H>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766238385 CA3278367	546	H>R		No	ClinGen ExAC gnomAD
rs190856393 CA359943514	546	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs993411395 CA119662494	548	D>N		No	ClinGen TOPMed gnomAD
CA359943551 rs1580062743	551	N>T		No	ClinGen Ensembl
CA359943566 rs1580062748	553	L>P		No	ClinGen Ensembl
CA3278370 rs377616431	555	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1483970398 CA359943584	556	S>P		No	ClinGen gnomAD
CA119662496 rs181002879	557	R>C		No	ClinGen 1000Genomes ESP TOPMed gnomAD
RCV000931251 CA3278371 rs139745227	557	R>H		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs139745227 CA359943591	557	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3278373 rs554100724 CA119662497	558	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA119662498 rs947147763	559	W>R		No	ClinGen TOPMed
CA359943609 rs1449628998	560	P>R		No	ClinGen TOPMed
CA119662524 rs1021250147	565	H>R		No	ClinGen TOPMed gnomAD
rs1012794487 CA119662525	566	V>I		No	ClinGen Ensembl
rs968415621 CA359943666	567	P>A		No	ClinGen TOPMed gnomAD
CA119662526 rs968415621	567	P>S		No	ClinGen TOPMed gnomAD
rs1384571286 CA359943680	569	A>V		No	ClinGen gnomAD
rs1389275964 CA359943718	575	A>T		No	ClinGen TOPMed gnomAD
COSM1319184 RCV000736090 RCV000974385 CA3278380 rs116036211	577	R>C	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA359943733 rs1314315470	577	R>H		No	ClinGen gnomAD
rs1260831217 CA359943761	581	Y>C		No	ClinGen TOPMed
TCGA novel	582	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1195386628 CA359943776	583	R>S		No	ClinGen TOPMed
CA359943812 rs1322206760	589	A>G		No	ClinGen gnomAD
rs976654292 CA119662529	590	I>M		No	ClinGen TOPMed gnomAD
rs955750160 CA119662531	592	I>V		No	ClinGen TOPMed gnomAD
rs1257102056 CA359943842	594	N>S		No	ClinGen TOPMed
rs990330044 CA119662532	595	T>S		No	ClinGen Ensembl
CA119662533 rs1021768229	597	R>K		No	ClinGen Ensembl
CA119662534 rs954444840	598	R>L		No	ClinGen TOPMed gnomAD
CA359943866 rs954444840	598	R>Q		No	ClinGen TOPMed gnomAD
rs1442253430 CA359943890	601	Q>H		No	ClinGen gnomAD
CA359943903 rs1308844857	603	Q>E		No	ClinGen gnomAD
CA359943937 rs1415195748	607	F>S		No	ClinGen gnomAD
rs1426037781 CA359943943	608	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1157434799 CA359943949	609	T>N		No	ClinGen gnomAD
rs772566819 CA3278384	610	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA359943961 rs1458023369	611	K>E		No	ClinGen gnomAD
CA359943966 rs1322815885	611	K>N		No	ClinGen gnomAD
rs761606372	613	E>R	Variant assessed as Somatic; 6.122e-05 impact. [NCI-TCGA]	No	NCI-TCGA
rs761606372	613	E>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA119662891 rs957821454	614	L>Q		No	ClinGen TOPMed
rs896246605 CA119662890	614	L>V		No	ClinGen gnomAD
rs1453289442 CA359944002	615	P>H		No	ClinGen TOPMed
CA359944000 rs1427503293	615	P>S		No	ClinGen gnomAD
CA359944010 rs1469456887	616	H>R		No	ClinGen gnomAD
CA359944025 rs1176359801	618	N>S		No	ClinGen gnomAD
rs1176945911 CA359944034	619	I>R		No	ClinGen gnomAD
rs201369904 CA119662892	620	T>N		No	ClinGen gnomAD
CA119662893 rs534372787	621	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD
CA359944045 rs534372787	621	S>W		No	ClinGen 1000Genomes TOPMed gnomAD
CA3278391 rs758542321	622	I>T		No	ClinGen ExAC gnomAD
rs921808376 CA119662894	623	T>A		No	ClinGen TOPMed gnomAD
CA359944060 rs375378529	624	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3278392 rs375378529	624	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA359944064 rs1272601414	625	L>M		No	ClinGen TOPMed
rs183803114 CA119662895	628	W>*		No	ClinGen 1000Genomes
CA359944118 rs188344729	633	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1313442020 CA359944125	634	D>A		No	ClinGen gnomAD
rs1313442020 CA359944126	634	D>G		No	ClinGen gnomAD
rs954825742 CA119662897	645	E>G		No	ClinGen TOPMed
rs1580066886 CA359944221	648	R>C		No	ClinGen Ensembl
CA119662898 rs983495066	648	R>H		No	ClinGen TOPMed gnomAD
CA119662899 rs983495066	648	R>L		No	ClinGen TOPMed gnomAD
CA359944222 rs983495066	648	R>P		No	ClinGen TOPMed gnomAD
CA3278398 rs780393066	649	I>V		No	ClinGen ExAC gnomAD
rs1402862837 CA359944231	650	D>H		No	ClinGen TOPMed gnomAD
CA119662902 rs144610275	652	E>D		No	ClinGen 1000Genomes TOPMed gnomAD
rs1191990062 CA359944256	653	N>S		No	ClinGen gnomAD
rs747840775 CA3278399	654	L>R		No	ClinGen ExAC gnomAD
TCGA novel	658	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1249715291 CA359944292	659	D>H		No	ClinGen TOPMed
rs1369917656 CA359944295	659	D>V		No	ClinGen gnomAD
CA3278402 rs746535535	661	T>A		No	ClinGen ExAC gnomAD
CA3278409 RCV001091912 rs763282681	662	E>D		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA359944346 rs1235180056	664	M>I		No	ClinGen TOPMed
CA3278410 rs375719109	666	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs553418522 CA3278411	667	C>R		No	ClinGen 1000Genomes ExAC gnomAD
CA359944364 rs1363572499	667	C>Y		No	ClinGen gnomAD
rs1404576753 CA359944377	669	S>A		No	ClinGen gnomAD
CA359944384 rs1323927365	670	L>P		No	ClinGen gnomAD
rs767527109 CA3278413	674	H>Q		No	ClinGen ExAC gnomAD
rs750996103 CA3278414	678	H>R		No	ClinGen ExAC TOPMed gnomAD
rs756583079 CA3278415	679	K>R		No	ClinGen ExAC TOPMed gnomAD
CA3278417 rs754512309	680	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3278416 rs780448236	680	F>Y		No	ClinGen ExAC gnomAD
CA3278418 rs755333533	684	G>E		No	ClinGen ExAC TOPMed gnomAD
rs912842794 CA119663030	689	T>A		No	ClinGen TOPMed
rs191155035 CA3278419	689	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA3278421 rs770401179	696	L>V		No	ClinGen ExAC gnomAD
CA359944560 rs1472409948	697	I>T		No	ClinGen gnomAD
rs1561281589 CA359944585	701	Q>H		No	ClinGen Ensembl
rs866037198 CA119663031	701	Q>K		No	ClinGen Ensembl
COSM1438075 CA119663032 rs780828160	703	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA119663033 rs995265434	703	R>H		No	ClinGen TOPMed gnomAD
CA119663034 rs1036063798	704	I>V		No	ClinGen TOPMed
rs1170500590 CA359944632	708	G>A		No	ClinGen TOPMed gnomAD
rs1388845181 CA359944653	712	Q>E		No	ClinGen gnomAD
CA3278423 rs745838220	714	K>E		No	ClinGen ExAC gnomAD
CA359944686 rs1340452553	716	C>S		No	ClinGen gnomAD
CA3278425 rs199521047	717	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs894571955 CA119663036	717	R>W		No	ClinGen TOPMed gnomAD
rs555750978 CA119663037	718	N>D		No	ClinGen 1000Genomes
CA359944733 rs1292259481	723	I>N		No	ClinGen TOPMed
CA359944740 rs1228103988	724	S>Y		No	ClinGen gnomAD
CA119663039 rs575815876	731	L>S		No	ClinGen 1000Genomes
CA359944815 rs1255535979	734	T>I		No	ClinGen gnomAD
CA119663040 rs1048857987	735	L>M		No	ClinGen TOPMed gnomAD
CA119663041 rs77003350	737	K>*		No	ClinGen Ensembl
rs1382893991 CA359944839	738	I>M		No	ClinGen gnomAD
rs1188160859 CA359944850	740	R>C		No	ClinGen gnomAD
CA3278426 rs148746224	740	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA359944852 rs148746224	740	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1342359714 CA359944869	743	A>T		No	ClinGen gnomAD
rs1158084205 CA359944874	743	A>V		No	ClinGen gnomAD
rs768430171 CA3278427	745	F>S		No	ClinGen ExAC gnomAD
CA119663043 rs1045620225	746	L>V		No	ClinGen TOPMed gnomAD
CA119663044 rs907160520	748	E>Q		No	ClinGen TOPMed
rs374590409 CA119663427	752	Y>H		No	ClinGen ESP TOPMed gnomAD
rs1376653861 CA359944944	753	S>G		No	ClinGen gnomAD
rs1466122507 CA359944951	754	G>S		No	ClinGen gnomAD
CA3278436 rs779327058	759	I>V		No	ClinGen ExAC
CA119663428 rs981945594	760	H>N		No	ClinGen Ensembl
rs1454367109 CA359944999	761	R>Q		No	ClinGen TOPMed gnomAD
VAR_076431	763	S>R		No	UniProt
COSM1438076 rs1403420420 CA359945018	764	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1331852212 CA359945025	765	P>A		No	ClinGen TOPMed gnomAD
rs1331852212 CA359945026	765	P>S		No	ClinGen TOPMed gnomAD
rs1331852212 CA359945024	765	P>T		No	ClinGen TOPMed gnomAD
CA359945034 rs1235553393	766	M>T		No	ClinGen gnomAD
rs1230764894 CA359945030	766	M>V		No	ClinGen Ensembl
rs745391103 CA3278440	768	T>K		No	ClinGen ExAC gnomAD
CA359945047 rs1358715935	768	T>P		No	ClinGen gnomAD
CA359945056 rs1340037299	769	F>S		No	ClinGen TOPMed gnomAD
rs377739461 CA3278441	774	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1561283194 CA359945100	775	T>I		No	ClinGen Ensembl
rs557637276 CA3278443	776	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA359945108 rs1207789330	777	L>F		No	ClinGen gnomAD
CA359945124 rs1266266379	780	H>Y		No	ClinGen gnomAD
CA359945134 rs1561283225	781	D>G		No	ClinGen Ensembl
rs370007762 CA119663431	781	D>N		No	ClinGen ESP gnomAD
rs1561283241 CA359945157	784	L>F		No	ClinGen Ensembl
rs1580070487 CA359945161	785	A>S		No	ClinGen Ensembl
rs1398243612 CA359945169	786	Y>C		No	ClinGen TOPMed
CA359945174 rs1387774052	787	K>E		No	ClinGen gnomAD
CA359945179 rs1449465061	787	K>N		No	ClinGen gnomAD
rs941362047 CA119663433	788	I>T		No	ClinGen gnomAD
CA119663434 rs534037657	789	A>T		No	ClinGen 1000Genomes
rs896435221 CA119663435	791	R>K		No	ClinGen TOPMed gnomAD
CA3278444 rs768393747	793	M>K		No	ClinGen ExAC TOPMed gnomAD
CA359945213 rs768393747	793	M>T		No	ClinGen ExAC TOPMed gnomAD
CA359945211 rs1561283266	793	M>V		No	ClinGen Ensembl
RCV000442098 CA16604972 rs774164666	794	R>W		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1008469234 CA119663785	797	V>I		No	ClinGen TOPMed
CA119663786 rs1020311729	801	T>A		No	ClinGen TOPMed gnomAD
CA3278451 rs754364885	802	A>T		No	ClinGen ExAC TOPMed gnomAD
rs765404109 CA119663787	802	A>V		No	ClinGen TOPMed gnomAD
rs1318799713 CA359945280	803	P>A		No	ClinGen gnomAD
rs760079769 CA3278452	803	P>L		No	ClinGen ExAC gnomAD
rs1321878076 CA359945290	804	S>L		No	ClinGen TOPMed
rs988005543 CA119663788	808	T>I		No	ClinGen gnomAD
rs751354754 CA119663789	809	R>C		No	ClinGen TOPMed gnomAD
rs751354754 CA359945317	809	R>G		No	ClinGen TOPMed gnomAD
rs754821174 CA119663790	809	R>H		No	ClinGen TOPMed gnomAD
rs1322112160 CA359945369	817	V>F		No	ClinGen gnomAD
rs1246647289 CA359945374	818	P>A		No	ClinGen gnomAD
rs1321179563 CA359945382	819	N>T		No	ClinGen TOPMed
CA359945389 rs1469059801	820	R>C		No	ClinGen TOPMed
CA119663793 rs930745915	820	R>H		No	ClinGen TOPMed gnomAD
CA119663794 rs1022740420	823	R>H		No	ClinGen TOPMed gnomAD
rs1374511488 CA359945406	823	R>S		No	ClinGen Ensembl
CA359945433 rs1249328684	826	T>I		No	ClinGen gnomAD
rs1482600302 CA359945434	827	L>V		No	ClinGen gnomAD
rs1257408851 CA359945448	829	H>D		No	ClinGen gnomAD
rs1157341460 CA359945457	830	I>F		No	ClinGen gnomAD
rs758784027 CA3278455	830	I>T		No	ClinGen ExAC gnomAD
TCGA novel	837	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs970319219 CA119663796	838	A>V		No	ClinGen TOPMed
rs981378029 CA119663797	841	M>L		No	ClinGen TOPMed
CA359945547 rs1357501046	843	T>I		No	ClinGen gnomAD
CA359945561 rs1419833120	846	K>E		No	ClinGen TOPMed gnomAD
TCGA novel	846	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3278459 rs200376433	848	D>N		No	ClinGen ExAC gnomAD
CA359945601 rs1184623630	850	R>Q		No	ClinGen TOPMed gnomAD
CA3278460 rs530583602	850	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV001264695 rs1749677033	857	E>K		No	ClinVar dbSNP
CA359945652 rs1359714860	858	S>A		No	ClinGen gnomAD
CA359945653 rs1438342709	858	S>Y		No	ClinGen gnomAD
CA119663860 rs1027909153	859	I>V		No	ClinGen TOPMed
rs1169385223 CA359945697	864	H>R		No	ClinGen TOPMed
rs571067306 CA3278464	875	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1447006913 CA359945791	878	K>Q		No	ClinGen gnomAD
rs1443947694 CA359945802	879	I>T		No	ClinGen TOPMed
rs201456886 CA119663861	879	I>V		No	ClinGen TOPMed gnomAD
rs1301328030 CA359945805	880	A>T		No	ClinGen gnomAD
CA3278465 rs540036440	881	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1350827123 CA359945818	882	L>F		No	ClinGen gnomAD
CA359945826 rs1203630940	883	M>T		No	ClinGen gnomAD
CA3278467 rs771070694	887	P>L		No	ClinGen ExAC
rs1561285216 CA359945863	888	D>G		No	ClinGen Ensembl
rs1580073380 CA359945859	888	D>N		No	ClinGen Ensembl
CA359945879 rs1483596110	890	T>I		No	ClinGen gnomAD
CA359945901 rs1580073403	894	V>L		No	ClinGen Ensembl
CA119664116 rs773561526	904	R>Q		No	ClinGen gnomAD
CA359945998 rs1463615795	907	L>Q		No	ClinGen gnomAD
CA119664117 rs968934369	907	L>V		No	ClinGen TOPMed gnomAD
rs1389523495 CA359946040	913	R>Q		No	ClinGen gnomAD
CA359946049 rs1280269191	915	R>Q		No	ClinGen TOPMed
CA359946106 rs1169488324	923	T>M		No	ClinGen TOPMed gnomAD
CA359946112 rs1439151169	924	C>S		No	ClinGen TOPMed gnomAD
CA359946111 rs1439151169	924	C>Y		No	ClinGen TOPMed gnomAD
CA359946127 rs1404479901	926	T>I		No	ClinGen gnomAD
CA359946161 rs748023376	930	V>F		No	ClinGen ExAC TOPMed gnomAD
rs748023376 CA3278480	930	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1054922522 CA119664244	934	D>E		No	ClinGen TOPMed gnomAD
CA359946188 rs1388731395	934	D>G		No	ClinGen gnomAD
rs1332795745 CA359946272	946	P>T		No	ClinGen gnomAD
rs1561287095 CA359946303	950	T>I		No	ClinGen Ensembl
rs1401549561 CA359946305	951	S>G		No	ClinGen TOPMed
rs545343406 CA3278482 COSM3366115	952	I>V	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA119664247 rs1013434460	957	V>A		No	ClinGen TOPMed
CA3278484 rs771158020	957	V>M		No	ClinGen ExAC gnomAD
CA359946349 rs1351620156	958	M>T		No	ClinGen TOPMed
rs1198755037 CA359946365	960	N>S		No	ClinGen gnomAD
rs898714749 CA119664248	962	T>A		No	ClinGen Ensembl
rs898714749 CA359946376	962	T>P		No	ClinGen Ensembl
CA3278487 rs769694259	963	I>T		No	ClinGen ExAC TOPMed gnomAD
CA119664249 rs774718702	964	V>I		No	ClinGen TOPMed gnomAD
rs764619986 CA3278490	965	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1412183323 CA359946394	965	R>H		No	ClinGen TOPMed gnomAD
rs1412183323 CA359946396	965	R>L		No	ClinGen TOPMed gnomAD
CA359946395 rs1412183323	965	R>P		No	ClinGen TOPMed gnomAD
CA359946406 rs1487309974	967	H>R		No	ClinGen TOPMed
CA359946447 rs1402175424	972	Q>H		No	ClinGen TOPMed gnomAD
rs1170259343 CA359946444	972	Q>R		No	ClinGen gnomAD
rs1415532445 CA359946482	977	A>V		No	ClinGen gnomAD
CA359946484 rs1315264942	978	S>G		No	ClinGen gnomAD
rs774834890 CA3278491	978	S>I		No	ClinGen ExAC gnomAD
CA359946500 rs1337716402	980	A>D		No	ClinGen gnomAD
rs547354557 CA3278493	980	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs561434876 CA3278496	981	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3278495 rs754533320	981	R>W		No	ClinGen ExAC TOPMed gnomAD
rs958090617 CA119664251	984	A>S		No	ClinGen TOPMed
rs1319008736 CA359946522	984	A>V		No	ClinGen gnomAD
CA3278497 rs752694812	989	M>V		No	ClinGen ExAC gnomAD
rs1282300396 CA359946573	991	D>E		No	ClinGen gnomAD
rs758297289 CA359946575	992	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3278498 rs758297289	992	P>S		No	ClinGen ExAC TOPMed gnomAD
CA359946605 rs1250843632	996	A>T		No	ClinGen gnomAD
CA3278499 rs373808727	998	S>C		No	ClinGen ESP ExAC gnomAD
CA359946623 rs751381608	999	A>E		No	ClinGen ExAC TOPMed gnomAD
CA3278500 COSM3670343 rs751381608	999	A>V	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA359946687 rs1421509600	1008	I>M		No	ClinGen TOPMed
CA359946686 rs1156756213	1008	I>R		No	ClinGen TOPMed
rs967187209 CA119664253	1008	I>V		No	ClinGen Ensembl
TCGA novel	1011	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359946712 rs1388807486	1012	T>A		No	ClinGen gnomAD
rs138406248 CA3278501	1012	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA119664254 rs138406248	1012	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1398970127 CA359946714	1013	A>T		No	ClinGen gnomAD
CA359946719 rs1385299944	1013	A>V		No	ClinGen gnomAD
CA359946749 rs1268983438	1018	L>I		No	ClinGen TOPMed
CA119664256 rs769976213	1019	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1236517352 CA359946757	1019	D>N		No	ClinGen gnomAD
rs376792824 CA3278505	1020	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs760505023 CA3278506	1022	T>M		No	ClinGen ExAC TOPMed gnomAD
CA119664257 rs1050851270	1025	M>V		No	ClinGen gnomAD
CA359946801 rs1255718329	1026	S>N		No	ClinGen TOPMed
CA119664258 rs757311369	1027	Y>C		No	ClinGen Ensembl
CA359946824 rs1207704884	1029	Q>L		No	ClinGen gnomAD
CA3278507 rs769308131	1035	R>Q		No	ClinGen ExAC gnomAD
rs931029484 CA119664259	1035	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1478021154 CA359946867	1036	Y>C		No	ClinGen gnomAD
rs1334818157 CA359946872	1037	M>V		No	ClinGen Ensembl
CA3278508 rs774957716	1040	R>C		No	ClinGen ExAC TOPMed gnomAD
rs192222164 CA3278509	1040	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA359946902 rs1300119358	1041	G>E		No	ClinGen TOPMed
CA3278511 rs776400990	1041	G>R		No	ClinGen ExAC gnomAD
rs1171631580 CA359946919	1044	M>L		No	ClinGen TOPMed gnomAD
rs1171631580 CA359946920	1044	M>V		No	ClinGen TOPMed gnomAD
rs1361127586 CA359946946	1047	Y>F		No	ClinGen TOPMed
rs1456655410 CA359946956	1048	K>N		No	ClinGen TOPMed gnomAD
rs1445236072 CA359946962	1050	A>T		No	ClinGen gnomAD
rs1580076806 CA359946968	1051	T>P		No	ClinGen Ensembl
CA359946975 rs1391666272	1052	L>V		No	ClinGen gnomAD
CA359946986 rs1176332509	1054	M>V		No	ClinGen TOPMed
rs1580076816 CA359946995	1055	T>A		No	ClinGen Ensembl
CA359947004 rs1373741931	1056	H>R		No	ClinGen Ensembl
CA359947017 rs1580076832	1058	N>T		No	ClinGen Ensembl
CA359947039 rs1284109888	1061	Y>C		No	ClinGen gnomAD
CA119664263 rs898782799	1062	N>S		No	ClinGen TOPMed gnomAD
CA3278514 rs752185820	1066	H>P		No	ClinGen ExAC gnomAD
rs762404087 CA3278515	1068	A>T		No	ClinGen ExAC gnomAD
rs1242273959 CA359947089	1068	A>V		No	ClinGen gnomAD
rs1264524553 CA359947090	1069	I>L		No	ClinGen gnomAD
rs747444881 CA119664265	1075	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs911593236 CA119664268	1080	H>N		No	ClinGen Ensembl
TCGA novel	1081	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1187623670 CA359947180	1082	L>I		No	ClinGen gnomAD
rs764052973 CA3278516	1082	L>R		No	ClinGen ExAC gnomAD
rs751434688 CA3278517	1085	N>S		No	ClinGen ExAC TOPMed gnomAD
CA359947225 rs1418909433	1088	A>V		No	ClinGen TOPMed gnomAD
rs1463195021 CA359947233	1090	I>V		No	ClinGen gnomAD
CA3278518 rs757090562	1092	P>S		No	ClinGen ExAC gnomAD
CA3278519 rs780837744	1093	L>R		No	ClinGen ExAC gnomAD
CA359947293 rs1311908769	1099	K>R		No	ClinGen TOPMed
rs1363940041 COSM1438080 CA359947316	1102	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA119664271 rs1032825416	1107	I>V		No	ClinGen Ensembl
rs780375063 CA3278522	1109	R>C		No	ClinGen ExAC
CA3278523 rs372466113	1109	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1110	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1355760634 CA359947369	1111	C>Y		No	ClinGen gnomAD
CA119664272 rs975367308	1113	L>V		No	ClinGen Ensembl
CA359947387 rs768788655	1114	T>I		No	ClinGen ExAC TOPMed gnomAD
CA3278524 rs768788655	1114	T>S		No	ClinGen ExAC TOPMed gnomAD
CA119664273 rs1029467329	1116	P>S		No	ClinGen TOPMed
CA359947407 rs1286002241	1118	M>V		No	ClinGen gnomAD
rs1327884760 CA359947426	1120	G>E		No	ClinGen gnomAD
TCGA novel	1123	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs533790571 CA3278525	1128	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA359947498 rs1200297741	1131	M>T		No	ClinGen gnomAD
rs1426078931 CA359947521	1134	D>E		No	ClinGen TOPMed
rs1258645752 CA359947535	1136	A>G		No	ClinGen gnomAD
rs1411446086 CA359947547	1138	L>F		No	ClinGen gnomAD
rs1180306525 CA359947542	1138	L>M		No	ClinGen gnomAD
TCGA novel	1140	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359947598 rs1346946485	1146	I>V		No	ClinGen gnomAD
rs371998823 CA3278529	1147	G>R		No	ClinGen ExAC gnomAD
TCGA novel	1151	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359947635 rs1375846022	1151	N>S		No	ClinGen gnomAD
CA359947639 rs1416337084	1152	T>A		No	ClinGen gnomAD
rs908327460 CA119664275	1153	T>M		No	ClinGen Ensembl
rs1349454564 CA359947664	1156	R>W		No	ClinGen gnomAD
CA359947675 rs1355728601	1158	T>A		No	ClinGen TOPMed
rs1342221689 CA359947720	1164	H>Q		No	ClinGen TOPMed
rs1554041457 CA359947717 RCV000519567	1164	H>R		No	ClinGen ClinVar Ensembl dbSNP
CA359947802 rs1308499627	1175	A>V		No	ClinGen gnomAD
rs201456700 CA119664279	1176	R>Q		No	ClinGen ESP TOPMed gnomAD
CA359947811 rs1486870596	1177	E>A		No	ClinGen gnomAD
CA359947808 rs1281597473	1177	E>K		No	ClinGen gnomAD
rs1203405019 CA359947818	1178	T>A		No	ClinGen TOPMed gnomAD
CA359947819 rs1251411688	1178	T>N		No	ClinGen gnomAD
CA3278531 rs775086998	1180	L>V		No	ClinGen ExAC TOPMed gnomAD
CA359947845 rs1488541937	1182	A>T		No	ClinGen gnomAD
TCGA novel	1182	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA119664281 rs930935956	1183	H>Q		No	ClinGen TOPMed gnomAD
rs1580077170 CA359947855	1183	H>R		No	ClinGen Ensembl
rs1432599141 CA359947860	1184	D>Y		No	ClinGen gnomAD
rs1561287772 CA359947866	1185	G>R		No	ClinGen Ensembl
rs920093349 CA119664282	1187	I>V		No	ClinGen TOPMed gnomAD
CA359947905 rs1436393669	1190	T>I		No	ClinGen gnomAD
CA359947912 rs1305922709	1191	Q>R		No	ClinGen gnomAD
rs1353617498 CA359947928	1193	I>T		No	ClinGen gnomAD
CA359947983 rs1299455174	1201	K>E		No	ClinGen gnomAD
CA359948040 rs1438208467	1208	M>I		No	ClinGen TOPMed
rs916306349 CA119664283	1208	M>T		No	ClinGen TOPMed
CA119664284 rs896708412	1211	R>Q		No	ClinGen Ensembl

2 associated diseases with Q9HCJ5

[MIM: 603671]: Acromelic frontonasal dysostosis (AFND)

A rare variant form of frontonasal dysplasia, an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism, broadening of the nasal root, median facial cleft affecting the nose and/or upper lip and palate, unilateral or bilateral clefting of the alae nasi, lack of formation of the nasal tip, anterior cranium bifidum occultum, a V-shaped or widow's peak frontal hairline. AFND is characterized by the association of frontonasal malformations with various combinations of polydactyly, tibial hypoplasia, epibulbar dermoid, encephalocoele, corpus callosum agenesis and Dandy-Walker malformation. {ECO:0000269|PubMed:25105228}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 617865]: Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (NEDMAGA)

An autosomal dominant neurodevelopmental disorder characterized by infantile-onset global developmental delay, severe to profound intellectual disability, mildly delayed walking with broad-based and unsteady gait, and absence of meaningful language. Patients have features of autism, with repetitive behaviors and poor communication, but usually are socially reactive and have a happy demeanor. More variable neurologic features include mild seizures, spasticity, and peripheral neuropathy. {ECO:0000269|PubMed:29198722}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A rare variant form of frontonasal dysplasia, an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism, broadening of the nasal root, median facial cleft affecting the nose and/or upper lip and palate, unilateral or bilateral clefting of the alae nasi, lack of formation of the nasal tip, anterior cranium bifidum occultum, a V-shaped or widow's peak frontal hairline. AFND is characterized by the association of frontonasal malformations with various combinations of polydactyly, tibial hypoplasia, epibulbar dermoid, encephalocoele, corpus callosum agenesis and Dandy-Walker malformation. {ECO:0000269|PubMed:25105228}. Note=The disease is caused by variants affecting the gene represented in this entry.
An autosomal dominant neurodevelopmental disorder characterized by infantile-onset global developmental delay, severe to profound intellectual disability, mildly delayed walking with broad-based and unsteady gait, and absence of meaningful language. Patients have features of autism, with repetitive behaviors and poor communication, but usually are socially reactive and have a happy demeanor. More variable neurologic features include mild seizures, spasticity, and peripheral neuropathy. {ECO:0000269|PubMed:29198722}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for Q9HCJ5

Type	Name	Position	InterPro Accession
domain	Zinc finger, SWIM-type	246 - 283	IPR007527

Functions

		Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
Cul2-RING ubiquitin ligase complex	A ubiquitin ligase complex in which a cullin from the Cul2 subfamily and a RING domain protein form the catalytic core; substrate specificity is conferred by an elongin-BC adaptor and a SOCS/BC box protein.

1 GO annotations of molecular function

Name	Definition
zinc ion binding	Binding to a zinc ion (Zn).

1 GO annotations of biological process

Name	Definition
striatal medium spiny neuron differentiation	The process in which a relatively unspecialized cell acquires specialized features of a medium spiny neuron residing in the striatum.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9H7M6	ZSWIM4	Zinc finger SWIM domain-containing protein 4	Homo sapiens (Human)	PR
Q80TC6	Zswim5	Zinc finger SWIM domain-containing protein 5	Mus musculus (Mouse)	PR
Q8C7B8	Zswim4	Zinc finger SWIM domain-containing protein 4	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAERGQQPPP	AKRLCCRPGG	GGGGGGSSGG	GGGAGGGYSS	ACRPGPRAGG	AAAAAACGGG
70	80	90	100	110	120
AALGLLPPGK	TQSPESLLDI	AARRVAEKWP	FQRVEERFER	IPEPVQRRIV	YWSFPRSERE
130	140	150	160	170	180
ICMYSSFNTG	GGAAGGPGDD	SGGGGGAGGG	GGGGSSSSPA	ATSAAATSAA	AAAAAAAAAA
190	200	210	220	230	240
AAAAGAGAPS	VGAAGAADGG	DETRLPFRRG	IALLESGCVD	NVLQVGFHLS	GTVTEPAIQS
250	260	270	280	290	300
EPETVCNVAI	SFDRCKITSV	TCSCGNKDIF	YCAHVVALSL	YRIRKPDQVK	LHLPISETLF
310	320	330	340	350	360
QMNRDQLQKF	VQYLITVHHT	EVLPTAQKLA	DEILSQNSEI	NQVHGAPDPT	AGASIDDENC
370	380	390	400	410	420
WHLDEEQVQE	QVKLFLSQGG	YHGSGKQLNL	LFAKVREMLK	MRDSNGARML	TLITEQFMAD
430	440	450	460	470	480
PRLSLWRQQG	TAMTDKYRQL	WDELGALWMC	IVLNPHCKLE	QKASWLKQLK	KWNSVDVCPW
490	500	510	520	530	540
EDGNHGSELP	NLTNALPQGA	NANQDSSNRP	HRTVFTRAIE	ACDLHWQDSH	LQHIISSDLY
550	560	570	580	590	600
TNYCYHDDTE	NSLFDSRGWP	LWHEHVPTAC	ARVDALRSHG	YPREALRLAI	AIVNTLRRQQ
610	620	630	640	650	660
QKQLEMFRTQ	KKELPHKNIT	SITNLEGWVG	HPLDPVGTLF	SSLMEACRID	DENLSGFSDF
670	680	690	700	710	720
TENMGQCKSL	EYQHLPAHKF	LEEGESYLTL	AVEVALIGLG	QQRIMPDGLY	TQEKVCRNEE
730	740	750	760	770	780
QLISKLQEIE	LDDTLVKIFR	KQAVFLLEAG	PYSGLGEIIH	RESVPMHTFA	KYLFTSLLPH
790	800	810	820	830	840
DAELAYKIAL	RAMRLLVLES	TAPSGDLTRP	HHIASVVPNR	YPRWFTLSHI	ESQQCELAST
850	860	870	880	890	900
MLTAAKGDVR	RLETVLESIQ	KNIHSSSHIF	KLAQDAFKIA	TLMDSLPDIT	LLKVSLELGL
910	920	930	940	950	960
QVMRMTLSTL	NWRRREMVRW	LVTCATEVGV	YALDSIMQTW	FTLFTPTEAT	SIVATTVMSN
970	980	990	1000	1010	1020
STIVRLHLDC	HQQEKLASSA	RTLALQCAMK	DPQNCALSAL	TLCEKDHIAF	ETAYQIVLDA
1030	1040	1050	1060	1070	1080
ATTGMSYTQL	FTIARYMEHR	GYPMRAYKLA	TLAMTHLNLS	YNQDTHPAIN	DVLWACALSH
1090	1100	1110	1120	1130	1140
SLGKNELAAI	IPLVVKSVKC	ATVLSDILRR	CTLTTPGMVG	LHGRRNSGKL	MSLDKAPLRQ
1150	1160	1170	1180	1190	1200
LLDATIGAYI	NTTHSRLTHI	SPRHYSEFIE	FLSKARETFL	MAHDGHIQFT	QFIDNLKQIY
1210
KGKKKLMMLV	RERFG