AiPD: Autoinhibited Protein Database

O60231

Gene name	DHX16
Protein name	Pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16
Names	ATP-dependent RNA helicase #3, DEAH-box protein 16
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8449
EC number	3.6.4.13: Acting on ATP; involved in cellular and subcellular movement
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

66-194 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

66-194 (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

8 structures for O60231

Entry ID	Method	Resolution	Chain	Position	Source
5Z56	EM	510 A	x	1-1041	PDB
5Z57	EM	650 A	x	1-1041	PDB
5Z58	EM	490 A	x	1-1041	PDB
6FF7	EM	450 A	q	1-1041	PDB
7DVQ	EM	289 A	x	1-1041	PDB
7QTT	EM	310 A	N	1-1041	PDB
8CH6	EM	590 A	N	1-1041	PDB
AF-O60231-F1	Predicted				AlphaFoldDB

730 variants for O60231

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000991227 rs1582953009 CA363109787 RCV000853104 RCV001261676 VAR_083621	427	G>E	Intellectual disability Neuromuscular disease and ocular or auditory anomalies with or without seizures NMOAS [ClinVar, UniProt]	Yes	Ensembl ClinGen ClinVar dbSNP UniProt
RCV000991225 CA363105332 rs1582940678 VAR_083622 RCV000853102 RCV001261674	582	F>I	Neuromuscular disease and ocular or auditory anomalies with or without seizures Corpus callosum, agenesis of NMOAS; unknown pathological significance [ClinVar, UniProt]	Yes	Ensembl ClinGen ClinVar dbSNP UniProt
RCV000991228 rs1582931908 CA363103615 VAR_083623 RCV001261677 RCV000853105	674	T>M	Intellectual disability Neuromuscular disease and ocular or auditory anomalies with or without seizures NMOAS; unknown pathological significance [ClinVar, UniProt]	Yes	Ensembl ClinGen ClinVar dbSNP UniProt
VAR_083624 rs1582931640 RCV001261675 CA363103290 RCV000991226 RCV000853103	697	Q>H	Neuromuscular disease and ocular or auditory anomalies with or without seizures NMOAS; unknown pathological significance [ClinVar, UniProt]	Yes	Ensembl ClinGen ClinVar dbSNP UniProt
rs141617781 CA3701604	4	P>A		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA363119359 rs1327243651	8	E>G		No	TOPMed ClinGen
rs1431282914 CA363119341	9	R>C		No	TOPMed ClinGen
CA363119332 rs1228636646	9	R>L		No	gnomAD ClinGen
rs1330433257 CA363119322	10	W>R		No	TOPMed gnomAD ClinGen
CA136815165 rs766295819	14	E>*		No	Ensembl ClinGen
rs757705805 CA3701599	14	E>A		No	ClinGen ExAC gnomAD
rs1382782790 CA363119203	14	E>D		No	TOPMed gnomAD ClinGen
CA3701598 rs747391687	17	S>L		No	ExAC gnomAD ClinGen
rs778054207 CA3701597	20	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA3701596 rs758041320	21	L>P		No	ClinGen ExAC gnomAD
CA136815142 rs764895636	28	Q>*		No	ExAC TOPMed gnomAD ClinGen
CA3701594 COSM1546040 rs764895636 COSM1546039	28	Q>E	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA363118943 rs1156645228	28	Q>R		No	gnomAD ClinGen
CA3701592 rs766336363	29	F>C		No	ExAC TOPMed gnomAD ClinGen
CA3701591 rs766336363	29	F>Y		No	ExAC TOPMed gnomAD ClinGen
rs773038887 CA3701589	31	I>L		No	ClinGen ExAC gnomAD
rs767254735 CA3701588	32	G>V		No	ExAC TOPMed gnomAD ClinGen
CA363118824 rs1465964988	33	T>S		No	gnomAD ClinGen
rs1446997292 CA363118806	35	Q>E		No	TOPMed ClinGen
rs775804588 CA3701586	35	Q>H		No	ClinGen ExAC gnomAD
CA363118754 rs1303979488	37	C>S		No	gnomAD ClinGen
CA363118728 rs1376516811	38	T>I		No	TOPMed gnomAD ClinGen
rs745872838 CA3701584	39	S>F		No	ExAC gnomAD ClinGen
CA3701583 rs776913795	40	A>T		No	ExAC gnomAD ClinGen
rs1562005531 CA363118685	40	A>V		No	Ensembl ClinGen
CA363118678 rs1437434585	41	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA363118621 rs1160361737	43	F>S		No	TOPMed ClinGen
CA3701581 rs747516861	44	V>A		No	ClinGen ExAC gnomAD
CA363118599 rs1359536181	44	V>M		No	gnomAD ClinGen
rs900873823 CA136815107	46	R>H		No	TOPMed ClinGen
rs778474797 CA3701577	48	R>*		No	ExAC TOPMed gnomAD ClinGen
rs1282909984 CA363118470	51	D>G		No	ClinGen gnomAD
rs138442334 CA3701574	51	D>N		No	ESP ExAC TOPMed gnomAD ClinGen
CA136815089 rs375439029	52	T>I		No	ESP TOPMed ClinGen
CA3701573 rs756049898	53	L>V		No	ExAC gnomAD ClinGen
CA136815087 rs893315106	54	D>V		No	Ensembl ClinGen
rs947220212 CA136815085	55	L>V		No	TOPMed ClinGen
rs761642337 CA3701571	56	S>C		No	ExAC TOPMed gnomAD ClinGen
rs761642337 CA3701570	56	S>G		No	ExAC TOPMed gnomAD ClinGen
CA136815059 rs937628663	57	G>A		No	Ensembl ClinGen
CA3701568 rs765546775	58	P>A		No	ExAC gnomAD ClinGen
rs759892161 CA363118335	58	P>L		No	ExAC TOPMed gnomAD ClinGen
rs759892161 CA3701567	58	P>R		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	58	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760834926 CA3701564	59	A>G		No	ExAC TOPMed gnomAD ClinGen
CA3701565 rs760834926	59	A>V		No	ExAC TOPMed gnomAD ClinGen
rs1364416875 CA363118315	60	R>Q		No	TOPMed ClinGen
CA363118276 rs1314473481	61	D>E		No	gnomAD ClinGen
TCGA novel	61	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3701562 rs748507849 CA3701563	62	F>L		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	64	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767302887 CA136815026	66	L>V		No	Ensembl ClinGen
rs928660994 CA136815024	67	W>C		No	TOPMed ClinGen
CA3701558 rs748981908	68	N>K		No	ExAC gnomAD ClinGen
rs536316212 CA136815018	69	K>*		No	1000Genomes ClinGen
CA363117417 rs1562002485	70	V>I		No	Ensembl ClinGen
rs1337081499 CA363117381	71	P>S		No	gnomAD ClinGen
rs749683230 CA3701539	72	R>G		No	ExAC gnomAD ClinGen
rs149441313 CA3701538	72	R>Q		No	ESP ExAC TOPMed gnomAD ClinGen
CA363117316 rs1210344247	75	V>E		No	TOPMed ClinGen
rs1330157188 CA363117327	75	V>M		No	gnomAD ClinGen
rs769491002 CA3701537	76	V>I		No	ExAC gnomAD ClinGen
CA3701534 rs757235100	81	R>P		No	ExAC TOPMed gnomAD ClinGen
CA3701535 rs757235100	81	R>Q		No	ExAC TOPMed gnomAD ClinGen
CA3701536 rs745365589	81	R>W		No	ExAC TOPMed gnomAD ClinGen
CA363117193 rs1328140113	83	A>T		No	gnomAD ClinGen
CA3701533 rs751584086	85	R>L		No	ExAC gnomAD ClinGen
rs1008551246 CA136811504	86	E>K		No	Ensembl ClinGen
CA3701531 rs765108722	88	R>G		No	ExAC gnomAD ClinGen
rs752545067 CA3701530	88	R>Q		No	ExAC gnomAD ClinGen
CA136811497 rs765108722	88	R>W		No	ExAC gnomAD ClinGen
rs750449295 CA3701527	89	A>D		No	ExAC gnomAD ClinGen
CA3701529 rs766509801	89	A>T		No	ClinGen ExAC gnomAD
CA3701528 rs750449295	89	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs767625377 CA3701526	95	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs138934886 CA3701525	95	R>Q		No	ClinGen ESP ExAC gnomAD
rs1031329003 CA136811471	102	D>G		No	ClinGen TOPMed gnomAD
CA363116815 rs1402150502	103	S>R		No	ClinGen TOPMed gnomAD
CA363116742 rs1562002121	105	E>D		No	ClinGen Ensembl
CA3701523 rs150199797	105	E>G		No	ESP ExAC TOPMed gnomAD ClinGen
CA3701524 rs569916604	105	E>K		No	1000Genomes ExAC TOPMed gnomAD ClinGen
TCGA novel	106	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1234941662 CA363116705	106	S>T		No	ClinGen gnomAD
rs763159288 CA3701522	107	S>N		No	ExAC gnomAD ClinGen
rs1388585461 CA363116577	110	T>I		No	TOPMed ClinGen
CA363116596 rs1300605496	110	T>P		No	ClinGen gnomAD
rs1388585461 CA363116580	110	T>S		No	TOPMed ClinGen
rs1345382040 CA363116528	113	R>G		No	gnomAD ClinGen
TCGA novel	114	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs945089700 CA136811455	118	L>P		No	Ensembl ClinGen
rs1463948647 CA363116312	119	Q>*		No	gnomAD ClinGen
CA3701519 rs745580063	119	Q>R		No	ExAC TOPMed gnomAD ClinGen
rs776246488 CA3701518	121	K>E		No	ExAC TOPMed gnomAD ClinGen
rs1002656365 CA136811419	122	R>C		No	TOPMed gnomAD ClinGen
rs140919186 RCV000897843 CA3701516	122	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs140919186 CA3701517	122	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs777790354 CA3701515	123	K>E		No	ExAC ClinGen
rs758432267 CA3701514	124	K>N		No	ExAC gnomAD ClinGen
rs747886418 CA3701513	125	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA136811399 rs367665735	125	R>W		No	ESP TOPMed gnomAD ClinGen
CA363116103 rs1213934689	126	K>R		No	TOPMed gnomAD ClinGen
CA363116104 rs1213934689	126	K>T		No	TOPMed gnomAD ClinGen
CA363116081 rs1464405781	127	H>Q		No	TOPMed ClinGen
rs1445003953 CA363116059	128	L>P		No	TOPMed gnomAD ClinGen
rs756259799 CA3701511	129	R>W		No	ExAC TOPMed gnomAD ClinGen
CA3701510 rs146582324	132	R>C		No	ESP ExAC TOPMed gnomAD ClinGen
rs145669819 CA3701509	132	R>H		No	ESP ExAC TOPMed gnomAD ClinGen
CA3701506 rs764580533	135	E>D		No	ExAC gnomAD ClinGen
CA3701507 rs751641787	135	E>K		No	ClinGen ExAC gnomAD
CA363115936 rs1160396919	136	E>D		No	TOPMed ClinGen
CA363115921 rs1411612527	138	E>K		No	ClinGen TOPMed
rs763573836 CA3701504	139	E>K		No	ExAC gnomAD ClinGen
CA3701503 rs775691419	140	A>P		No	ExAC gnomAD ClinGen
CA363115896 rs775691419	140	A>T		No	ExAC gnomAD ClinGen
rs140342281 CA3701502	141	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs759847615 CA3701501	142	E>D		No	ExAC gnomAD ClinGen
CA3701500 rs146739908 RCV000950702	143	K>I		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs1311111815 CA363115845	145	K>*		No	TOPMed ClinGen
rs1256251257 CA363115834	146	K>E		No	TOPMed gnomAD ClinGen
rs1475198810 CA363115830	146	K>T		No	gnomAD ClinGen
CA3701496 rs772919242	147	K>T		No	ExAC TOPMed gnomAD ClinGen
rs142158557 CA3701494	149	G>A		No	ESP ExAC TOPMed gnomAD ClinGen
rs142158557 CA3701492	149	G>E		No	ESP ExAC TOPMed gnomAD ClinGen
CA3701483 rs531406624	152	K>E		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA363115750 COSM4006291 COSM4006290 rs531406624	152	K>Q	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
TCGA novel	153	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	156	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363115679 rs1255140068	157	K>N		No	gnomAD ClinGen
CA363115662 rs1426534739	158	P>R		No	TOPMed ClinGen
CA3701482 rs765683432	158	P>S		No	ClinGen ExAC gnomAD
rs759879737 CA3701481	159	E>Q		No	ExAC TOPMed gnomAD ClinGen
CA3701480 rs754322442	160	S>L		No	ClinGen ExAC TOPMed gnomAD
CA3701478 rs760452608	162	D>E		No	ExAC gnomAD ClinGen
CA363115617 rs1562001174	162	D>N		No	Ensembl ClinGen
CA363115604 rs1419599483	163	E>K		No	gnomAD ClinGen
CA3701477 rs772822396	164	W>G		No	ExAC gnomAD ClinGen
TCGA novel	164	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371865758 CA363115547	166	R>L		No	ClinGen ESP TOPMed gnomAD
rs371865758 CA363115549	166	R>P		No	ESP TOPMed gnomAD ClinGen
rs371865758 CA136811268	166	R>Q		No	ESP TOPMed gnomAD ClinGen
CA363115551 rs1161145519	166	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
rs1376132694 CA363115503	169	R>C		No	TOPMed gnomAD ClinGen
CA136811265 rs1009021407	170	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs774288934 CA3701474	173	Q>*		No	ExAC gnomAD ClinGen
CA363115440 rs1395329702	173	Q>R		No	gnomAD ClinGen
rs1460069194 CA363115413	176	E>Q		No	ClinGen gnomAD
CA3701472 rs749075824	177	E>K		No	ExAC TOPMed gnomAD ClinGen
rs779877701 CA3701471	178	R>C		No	ClinGen ExAC gnomAD
CA363115391 rs1582969244	178	R>P		No	Ensembl ClinGen
rs1175423625 CA363115328	183	E>Q		No	ClinGen gnomAD
rs41273005 CA3701469	186	R>*		No	1000Genomes ExAC gnomAD ClinGen
rs1253072340 CA363115298	186	R>Q		No	ClinGen TOPMed gnomAD
CA3701468 rs777887381	187	Q>*		No	ExAC TOPMed gnomAD ClinGen
rs758453050 CA363115284	187	Q>H		No	ExAC TOPMed gnomAD ClinGen
rs563092133 CA3701466	188	R>Q		No	1000Genomes ExAC gnomAD ClinGen
rs779471513 CA3701465	189	D>V		No	ExAC ClinGen
CA363115239 rs755602303	192	R>G		No	ExAC gnomAD ClinGen
CA363115237 COSM1443078 rs1273530977 COSM1443077	192	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs755602303 CA3701464	192	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1435685009 CA363115217	194	R>L		No	TOPMed ClinGen
CA3701462 rs766894198	195	N>K		No	ExAC gnomAD ClinGen
rs148698400 CA3701463	195	N>S		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA3701460 rs765057075	199	R>Q		No	ExAC ClinGen
rs750134942 CA3701461	199	R>W		No	ClinGen ExAC gnomAD
rs767091502 CA3701459	201	D>E		No	ExAC gnomAD ClinGen
rs1295170008 CA363115010	205	Y>F		No	TOPMed gnomAD ClinGen
rs776349217 CA3701433	206	E>A		No	ExAC TOPMed gnomAD ClinGen
CA363114963 rs1314577572	208	A>V		No	gnomAD ClinGen
CA363114958 rs1290599575	209	Q>E		No	TOPMed ClinGen
rs1412855733 CA363114945	210	K>Q		No	gnomAD ClinGen
rs768315559 CA3701432	211	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM274779 COSM3697401 CA3701431 rs200028840	211	R>H	large_intestine [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
rs774668618 CA3701429	214	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1169533544 CA363114859	215	A>S		No	gnomAD ClinGen
rs1169533544 CA363114863	215	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
rs1475700102 CA363114852	215	A>V		No	gnomAD ClinGen
CA3701428 rs539487104	216	E>K		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1442322979 CA363114834	217	E>K		No	gnomAD ClinGen
CA3701426 rs780643118	219	R>Q		No	ExAC gnomAD ClinGen
rs749395052 CA3701427	219	R>W		No	ExAC TOPMed gnomAD ClinGen
rs868360979 CA136810932	221	A>V		No	ClinGen Ensembl
rs1479713494 CA363114772	222	M>I		No	gnomAD ClinGen
rs1046620309 CA136810925	222	M>V		No	Ensembl ClinGen
CA363113133 rs1303475838	227	R>Q		No	TOPMed ClinGen
CA363113054 rs1490077235	231	R>C		No	TOPMed ClinGen
CA3701408 rs775767699	232	R>*		No	ClinGen ExAC TOPMed gnomAD
CA136808978 rs1055440195	232	R>Q		No	gnomAD ClinGen
CA363112937 rs1326556771	238	R>Q		No	TOPMed ClinGen
COSM595920 CA3701405 COSM1650592 rs781736063	240	R>*	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
CA363112909 rs781736063	240	R>G		No	ExAC gnomAD ClinGen
rs199775700 CA3701404	240	R>Q		No	ExAC gnomAD ClinGen
rs1357946376 CA363112674	251	A>G		No	TOPMed ClinGen
CA136808964 rs867744009	256	L>F		No	Ensembl ClinGen
rs1582956581 CA363112571	257	F>L		No	Ensembl ClinGen
rs1285717440 CA363112566	257	F>S		No	gnomAD ClinGen
rs866001534 CA136808961	258	G>E		No	ClinGen Ensembl
CA363112506 rs543187031	259	D>E		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA136808954 rs981312129	260	V>M		No	ClinGen TOPMed gnomAD
TCGA novel	261	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752183721 CA3701400	263	S>N		No	ExAC ClinGen
CA136808940 rs149882569	264	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA363112425 rs149882569	264	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA3701398 rs149882569	264	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA3701399 rs372863262	264	R>W		No	ESP ExAC TOPMed gnomAD ClinGen
CA363112406 rs1198429345	265	H>L		No	gnomAD ClinGen
rs201025174 CA136808939 CA136808931	265	H>Q		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs766356884 CA363112402	266	E>*		No	ExAC TOPMed gnomAD ClinGen
rs766356884 CA3701396	266	E>K		No	ExAC TOPMed gnomAD ClinGen
rs139415113 CA3701395	267	R>Q		No	ESP ExAC TOPMed gnomAD ClinGen
rs370408566 CA3701394	269	E>K		No	ESP ExAC TOPMed gnomAD ClinGen
CA3701393 rs377376289	272	Y>C		No	ESP ExAC TOPMed gnomAD ClinGen
COSM1077392 COSM1077391 rs775677381 CA3701391	274	R>Q	kidney Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA3701392 rs543682795	274	R>W		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA3701389 rs759683664	275	R>*		No	ExAC gnomAD ClinGen
rs577918246 CA3701388	275	R>Q		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs747328985 CA3701386	277	R>Q		No	ExAC gnomAD ClinGen
rs771472379 CA3701387	277	R>W		No	ExAC TOPMed gnomAD ClinGen
rs771684063 CA136808906	281	R>G		No	ClinGen ExAC TOPMed gnomAD
rs747759140 CA3701383	281	R>Q		No	ExAC gnomAD ClinGen
rs771684063 CA3701384	281	R>W		No	ClinGen ExAC TOPMed gnomAD
rs763949291 CA3701381	284	R>Q		No	ExAC TOPMed gnomAD ClinGen
rs147380148 CA3701382	284	R>W		No	ESP ExAC gnomAD ClinGen
rs199869295 CA3701380	285	A>V		No	ExAC TOPMed gnomAD ClinGen
rs752008971 CA136808890	288	E>A		No	gnomAD ClinGen
CA136808882 rs866406485	289	Q>R		No	Ensembl ClinGen
CA3701377 rs750217644	290	E>Q		No	ExAC gnomAD ClinGen
rs1275883803 CA363111952	291	K>E		No	gnomAD ClinGen
TCGA novel	294	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA136808868 rs903369361	295	T>I		No	TOPMed gnomAD ClinGen
rs767458132 CA3701376	296	N>S		No	ExAC TOPMed gnomAD ClinGen
CA3701375 rs761728114	297	R>C		No	ClinGen ExAC gnomAD
CA3701374 COSM3982154 COSM3982153 rs752914344	297	R>H	urinary_tract [Cosmic]	No	ExAC gnomAD ClinGen cosmic curated
CA136808859 rs893368714	299	H>D		No	Ensembl ClinGen
CA136808855 rs1055903076	300	M>I		No	Ensembl ClinGen
CA136808851 rs947392384	303	E>D		No	TOPMed gnomAD ClinGen
CA3701373 rs765508826	305	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs759467481 CA3701372	305	R>Q		No	ExAC gnomAD ClinGen
CA3701371 rs34505140	306	G>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs755284626 CA363111372	310	R>*		No	ExAC TOPMed gnomAD ClinGen
rs755284626 CA3701353	310	R>G		No	ExAC TOPMed gnomAD ClinGen
rs867043752 CA136808668	310	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA136808666 rs773824772	313	D>E		No	ClinGen Ensembl
rs879150516 CA363111317	313	D>N		No	TOPMed gnomAD ClinGen
rs879150516 CA136808667	313	D>Y		No	TOPMed gnomAD ClinGen
rs1215887577 CA363111301	314	L>V		No	gnomAD ClinGen
CA363111278 rs1224827087	316	E>K		No	gnomAD ClinGen
rs1224827087 CA363111276	316	E>Q		No	gnomAD ClinGen
CA363111160 rs766444822	320	G>E		No	ExAC gnomAD ClinGen
rs766444822 CA3701351	320	G>V		No	ExAC gnomAD ClinGen
CA363111145 rs1446189896	321	A>V		No	gnomAD ClinGen
rs760766321 CA3701350	324	E>Q		No	ExAC gnomAD ClinGen
rs1170740225 CA363111073	325	E>V		No	TOPMed ClinGen
COSM1077389 CA363111040 rs1347907322	327	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs773652903 CA3701349	327	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs768020321 CA3701348 COSM3358006 COSM3358007	328	R>C	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
COSM1077388 rs940446852 COSM1077387 CA136808645	328	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA363110996 rs1438561474	329	W>*		No	gnomAD ClinGen
rs1253177816 CA363110949	331	E>D		No	gnomAD ClinGen
rs749340666 CA136808636	332	A>V		No	Ensembl ClinGen
CA363110925 rs1487341653	333	R>Q		No	TOPMed gnomAD ClinGen
rs201146701 CA136808631	334	L>V		No	Ensembl ClinGen
CA363110900 rs1217022003	335	G>W		No	TOPMed gnomAD ClinGen
rs769375652 CA3701341	340	K>R		No	ExAC gnomAD ClinGen
CA136808605 rs752836709	342	G>V		No	Ensembl ClinGen
rs1259440756 CA363110799	343	A>V		No	TOPMed gnomAD ClinGen
CA3701339 rs781207840	344	R>*		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	344	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1367228043 CA363110781	345	D>V		No	gnomAD ClinGen
rs757330681 CA3701338	346	A>V		No	ClinGen ExAC gnomAD
rs746785622 CA3701337	348	S>C		No	ClinGen ExAC TOPMed gnomAD
rs777671505 CA3701336	349	Q>K		No	ExAC gnomAD ClinGen
CA3701335 rs758159706	349	Q>R		No	ExAC TOPMed gnomAD ClinGen
CA3701334 RCV000961707 rs17189239 VAR_057236	352	K>E		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP
rs766524035 CA3701333	352	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1431075813 CA363110678	354	Q>E		No	gnomAD ClinGen
rs756121109 CA363110670	354	Q>H		No	ExAC TOPMed gnomAD ClinGen
CA363110657 rs1165082325	356	V>L		No	TOPMed ClinGen
CA3701330 rs375186453	359	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA363110608 rs762359038	360	E>K		No	ExAC TOPMed gnomAD ClinGen
CA3701329 rs762359038	360	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA3701325 rs764477347	363	I>S		No	ExAC gnomAD ClinGen
CA363110567 rs764477347	363	I>T		No	ExAC gnomAD ClinGen
CA3701326 rs774546044	363	I>V		No	ExAC gnomAD ClinGen
rs1282536992 CA363110561	364	E>K		No	ClinGen gnomAD
CA363110519 rs1311785767	367	R>Q		No	TOPMed gnomAD ClinGen
rs763244622 CA3701324	367	R>W		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	368	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1296587824 CA363110501	369	T>A		No	gnomAD ClinGen
rs1214878714 CA363110497	369	T>I		No	ClinGen TOPMed gnomAD
CA136808522 rs368358552	370	Q>*		No	ESP TOPMed gnomAD ClinGen
CA363110493 rs368358552	370	Q>E		No	ESP TOPMed gnomAD ClinGen
rs149565043 CA363110484	370	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138171651 CA3701322	371	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA363110476 rs1399312321	371	L>H		No	gnomAD ClinGen
CA3701321 rs759112156	372	Q>K		No	ExAC ClinGen
rs145636542 CA136808503	373	G>D		No	ESP TOPMed gnomAD ClinGen
rs145636542 CA363110453	373	G>V		No	ESP TOPMed gnomAD ClinGen
rs776336422 CA3701320	375	E>Q		No	ExAC gnomAD ClinGen
CA3701296 rs755287752	376	E>D		No	ExAC TOPMed gnomAD ClinGen
rs760119478 CA3701297	376	E>K		No	ExAC gnomAD ClinGen
CA136808432 rs560138310	377	P>L		No	TOPMed gnomAD ClinGen
TCGA novel	378	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	378	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs572784064 CA3701294	380	P>S		No	1000Genomes ExAC gnomAD ClinGen
rs1180646496 CA363110288	384	T>I		No	gnomAD ClinGen
rs778732132 CA3701293	387	Q>R		No	ExAC gnomAD ClinGen
CA3701292 rs769976830	390	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs781410722 CA3701290	390	E>D		No	ExAC gnomAD ClinGen
rs746046397 CA3701291	390	E>V		No	ExAC TOPMed gnomAD ClinGen
CA3701289 rs757301268	391	S>F		No	ExAC gnomAD ClinGen
CA363110194 rs1196229493	392	I>T		No	TOPMed gnomAD ClinGen
rs907436587 CA136808316	395	V>I		No	TOPMed gnomAD ClinGen
rs907436587 CA136808317	395	V>L		No	TOPMed gnomAD ClinGen
rs778338647 CA3701287	396	R>C		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	396	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778338647 CA363110149	396	R>S		No	ExAC TOPMed gnomAD ClinGen
rs758885138 CA3701286	397	R>C		No	ExAC TOPMed gnomAD ClinGen
rs1374136350 CA363110137	397	R>H		No	gnomAD ClinGen
CA3701284 rs765737382	398	S>R		No	ExAC gnomAD ClinGen
rs752107979 CA136808311	399	L>F		No	Ensembl ClinGen
CA3701283 rs138855782	400	P>L		No	ESP ExAC TOPMed ClinGen
CA363110104 rs1161886505	400	P>S		No	ClinGen gnomAD
CA363110093 rs1364922470	401	V>A		No	gnomAD ClinGen
rs1180547406 CA363110074	403	P>S		No	gnomAD ClinGen
CA136808297 rs765769878	405	R>G		No	Ensembl ClinGen
rs766136585 CA3701281	405	R>Q		No	ExAC gnomAD ClinGen
CA363110037 rs1194509771	406	E>G		No	gnomAD ClinGen
rs1453609185 CA363110023	407	E>G		No	gnomAD ClinGen
CA363110013 rs760229179	408	L>F		No	ExAC gnomAD ClinGen
CA3701280 rs760229179	408	L>I		No	ExAC gnomAD ClinGen
CA136808286 rs948801905	410	A>P		No	TOPMed ClinGen
CA3701279 rs772658706	410	A>V		No	ClinGen ExAC gnomAD
rs1286677914 CA363109956	413	A>G		No	gnomAD ClinGen
rs35836922 CA3701278	414	N>D		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1450817205 CA363109899	417	V>D		No	TOPMed ClinGen
rs1321956512 CA363109886	418	L>P		No	gnomAD ClinGen
CA363109891 rs1332508841	418	L>V		No	gnomAD ClinGen
rs768388040 CA3701274	420	I>T		No	ExAC TOPMed gnomAD ClinGen
CA3701271 rs771122502	428	K>N		No	ExAC gnomAD ClinGen
rs1278890088 CA363109762	429	T>S		No	TOPMed ClinGen
CA3701270 rs747097312	430	T>I		No	ExAC gnomAD ClinGen
CA3701269 rs200865497	433	P>L		No	ExAC TOPMed gnomAD ClinGen
rs866629619 CA136808240	433	P>S		No	Ensembl ClinGen
rs140811480 CA3701266	437	F>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1561988288 CA363109665	437	F>S		No	Ensembl ClinGen
rs748625139 CA3701265	439	E>G		No	ExAC gnomAD ClinGen
CA3701251 rs764020358	440	G>V		No	ExAC gnomAD ClinGen
CA363108757 rs1443659729	442	T>A		No	gnomAD ClinGen
rs1309179411 CA363108710	445	G>S		No	TOPMed ClinGen
rs1370425622 CA363108642	448	I>T		No	ClinGen TOPMed
rs762729737 CA3701250	449	A>T		No	ExAC TOPMed gnomAD ClinGen
rs895940082 CA136807418	453	P>A		No	gnomAD ClinGen
rs895940082 CA363108545	453	P>S		No	gnomAD ClinGen
rs1217230750 CA363108538	454	R>W		No	gnomAD ClinGen
rs771160097 CA3701248	458	A>G		No	ExAC gnomAD ClinGen
rs1340398359 CA363108477	458	A>S		No	gnomAD ClinGen
rs1340398359 CA363108480	458	A>T		No	gnomAD ClinGen
rs1561984873 CA363108456	459	M>I		No	Ensembl ClinGen
CA3701245 rs147746362	463	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA363108392 rs1466314577	464	R>*		No	TOPMed gnomAD ClinGen
rs993567817 CA136807407	464	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
CA3701244 rs748243153	465	V>M		No	ExAC gnomAD ClinGen
rs779560720 CA3701243	466	A>V		No	ExAC gnomAD ClinGen
rs749651409 CA3701241	467	R>Q		No	ExAC TOPMed gnomAD ClinGen
rs199946837 CA3701242	467	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA3701239 rs780324766	471	V>M		No	ExAC gnomAD ClinGen
rs147782759 CA136807392	472	K>R		No	ESP ClinGen
rs1164551232 CA363108245	473	L>P		No	ClinGen gnomAD
rs1457911719 CA363108203	476	E>A		No	gnomAD ClinGen
rs756958554 CA3701216	479	Y>F		No	ExAC gnomAD ClinGen
rs1355953276 CA363107845	490	R>*		No	gnomAD ClinGen
rs763614322 CA363107842	490	R>P		No	gnomAD ClinGen
CA136807154 rs763614322	490	R>Q		No	gnomAD ClinGen
rs1446309622 CA363107818	492	V>A		No	gnomAD ClinGen
CA3701214 rs777303079	493	L>F		No	ExAC gnomAD ClinGen
CA3701213 rs757933833	494	R>C		No	ExAC TOPMed gnomAD ClinGen
CA3701212 rs752526477	494	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA3701211 rs765226417	495	Y>C		No	ExAC gnomAD ClinGen
TCGA novel	499	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753726567 CA3701209	500	M>L		No	ExAC gnomAD ClinGen
rs767826323 CA3701208	501	L>P		No	ExAC gnomAD ClinGen
CA136807139 rs17189232 VAR_057237	502	L>F		No	TOPMed ClinGen UniProt dbSNP
rs530848531 CA136807135	503	R>L		No	Ensembl ClinGen
rs762169796 CA3701207	503	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs774747303 CA3701205	505	F>L		No	ExAC gnomAD ClinGen
rs1489590051 CA363107418	512	A>G		No	TOPMed gnomAD ClinGen
CA363107406 rs1239571834	513	S>N		No	gnomAD ClinGen
CA3701201 rs770395316	513	S>R		No	ExAC gnomAD ClinGen
rs746202660 CA3701200	515	S>G		No	ExAC gnomAD ClinGen
CA3701175 rs778527121	516	V>L		No	ExAC gnomAD ClinGen
CA3701176 rs778527121	516	V>M	Variant assessed as Somatic; 5.693e-05 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA363106515 rs1234864590	518	M>I		No	TOPMed ClinGen
rs1248126296 CA363106523	518	M>L		No	gnomAD ClinGen
rs1243066094 CA363106394	526	T>I		No	TOPMed gnomAD ClinGen
rs1243066094 CA363106393	526	T>S		No	TOPMed gnomAD ClinGen
rs755910210 CA3701171	529	T>A		No	ExAC gnomAD ClinGen
rs1417800935 CA363106333	530	D>H		No	ClinGen TOPMed
TCGA novel	530	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750305662 CA3701169	531	I>L		No	ClinGen ExAC
CA136805967 rs889630024	531	I>M		No	Ensembl ClinGen
TCGA novel	532	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1393440689 CA363106221	536	I>V		No	TOPMed gnomAD ClinGen
CA3701168 rs764395120	541	R>C		No	ExAC TOPMed gnomAD ClinGen
rs201631376 CA3701167	541	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA3701166 rs752685685	543	R>*		No	ExAC gnomAD ClinGen
rs765318569 CA3701165	543	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
TCGA novel	547	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs56215804 CA136805934	547	K>R		No	Ensembl ClinGen
rs140427281 CA3701163	550	V>L		No	ESP ExAC gnomAD ClinGen
CA363105979 rs1214748010	555	M>V		No	Ensembl ClinGen
rs1582941027 CA363105965	556	D>N		No	Ensembl ClinGen
TCGA novel	556	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761015254 CA3701160	557	T>I		No	ExAC gnomAD ClinGen
rs945266742 CA136805884	558	A>P		No	TOPMed ClinGen
CA3701158 rs771594572	559	R>C		No	ExAC TOPMed gnomAD ClinGen
rs747799322 CA3701157	559	R>H		No	ExAC TOPMed gnomAD ClinGen
CA363105928 rs771594572	559	R>S		No	ExAC TOPMed gnomAD ClinGen
rs773899552 CA3701156	560	F>I		No	ExAC TOPMed gnomAD ClinGen
rs1275203486 CA363105884	562	T>I		No	ClinGen TOPMed
rs9262138	566	D>D		No	1000Genomes ESP ExAC TOPMed gnomAD
CA3701155 VAR_057238 rs9262138	566	D>G		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
CA363105832 rs1333183758	566	D>H		No	gnomAD ClinGen
rs1333183758	566	D>R		No	gnomAD
CA3701153 rs780140127	567	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs139838523 CA3701151	571	R>*		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA363105777 rs1384461457	571	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
rs200255671 COSM1443069 COSM1443068 CA3701148	575	R>C	Variant assessed as Somatic; 0.0002315 impact. large_intestine [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs916771861 CA136805838	575	R>H		No	gnomAD ClinGen
CA3701147 rs375931735	580	D>G		No	ExAC TOPMed gnomAD ClinGen
rs150693640 CA136805821	581	I>F		No	ESP TOPMed ClinGen
rs779015186 CA3701146	583	Y>F		No	ExAC ClinGen
rs1480044055 CA363105295	585	K>R		No	gnomAD ClinGen
rs770700154 CA3701130	586	A>G		No	ExAC ClinGen
rs1319045648 CA363105192	591	Y>C		No	gnomAD ClinGen
rs545668810 CA136805701	596	V>G		No	ClinGen 1000Genomes TOPMed gnomAD
rs1213312864 CA363105138	596	V>I		No	TOPMed gnomAD ClinGen
CA363105121 rs1188142279	598	S>T		No	TOPMed ClinGen
rs1380779628 CA363105110	599	V>M		No	gnomAD ClinGen
rs1456666098 CA363105065	603	H>Y		No	TOPMed ClinGen
rs1336326114 CA363105034	606	Q>*		No	ClinGen gnomAD
CA363104992 rs1160634405	610	D>N		No	TOPMed ClinGen
rs1172328526 CA363104918	617	G>R		No	ClinGen gnomAD
TCGA novel	620	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA136805487 rs939518624	621	I>S		No	gnomAD ClinGen
CA363104840 rs939518624	621	I>T		No	gnomAD ClinGen
CA363104821 rs1175785916	624	A>G		No	TOPMed gnomAD ClinGen
CA3701106 rs780270507	624	A>S		No	ExAC TOPMed gnomAD ClinGen
CA3701105 rs756123183	625	C>Y		No	ExAC gnomAD ClinGen
CA363104781 rs1582939257	628	L>F		No	Ensembl ClinGen
CA363104764 rs1200431014	629	Q>P		No	gnomAD ClinGen
CA3701102 rs757748798	631	R>C	Variant assessed as Somatic; 4.652e-05 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs1291092597 CA363104739	631	R>H		No	TOPMed gnomAD ClinGen
rs751917976 CA3701101	633	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3701100 rs764322736	633	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs1561977510 CA363104715	634	R>C		No	Ensembl ClinGen
CA3701099 rs758853504	634	R>H		No	ExAC TOPMed gnomAD ClinGen
CA363104708 rs758853504	634	R>L		No	ExAC TOPMed gnomAD ClinGen
CA3701097 rs764984101	640	R>Q		No	ExAC TOPMed gnomAD ClinGen
CA3701098 rs143108219	640	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA3701096 rs759112019	641	E>Q		No	ExAC gnomAD ClinGen
CA3701095 rs776063184	643	L>P		No	ExAC gnomAD ClinGen
CA3701092 rs188172318	644	V>A		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs760489918 CA3701093	644	V>M		No	ExAC gnomAD ClinGen
rs1156484499 CA363104605	645	L>R		No	ClinGen TOPMed gnomAD
CA3701091 rs771794608	646	P>L		No	ExAC gnomAD ClinGen
rs775682128 CA3701089	650	N>D		No	ExAC gnomAD ClinGen
CA3701088 rs770055253	650	N>S		No	ExAC TOPMed gnomAD ClinGen
rs1489315940 CA363104522	653	S>C		No	ClinGen gnomAD
rs1455084855 CA363104517	654	D>N		No	TOPMed ClinGen
CA363104497 rs1267614411	655	M>I		No	gnomAD ClinGen
rs757392927 CA3701085	655	M>T		No	ClinGen ExAC TOPMed gnomAD
CA363104503 rs1175528052	655	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
CA363104481 rs1313052301	657	A>T		No	gnomAD ClinGen
CA3701084 rs747428805	658	R>C		No	ExAC TOPMed gnomAD ClinGen
rs778439722 CA3701083	658	R>H		No	ExAC TOPMed gnomAD ClinGen
CA3701080 rs753179997	661	Q>*		No	ExAC TOPMed gnomAD ClinGen
rs753179997 CA3701081	661	Q>E		No	ExAC TOPMed gnomAD ClinGen
CA363104420 rs1363435291	662	P>L		No	gnomAD ClinGen
CA363104404 rs1359412406	664	P>T		No	gnomAD ClinGen
rs764970919 CA3701078	665	P>L		No	ExAC gnomAD ClinGen
rs1310687668 CA363104395	665	P>S		No	TOPMed gnomAD ClinGen
rs1234914828 CA363104381	666	G>A		No	TOPMed ClinGen
rs953836605 CA136805291	666	G>R		No	gnomAD ClinGen
CA3701077 rs754718688	668	R>*		No	ExAC gnomAD ClinGen
TCGA novel	668	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363104348 rs1430871068	669	K>N		No	TOPMed gnomAD ClinGen
rs755572358 CA3701056	670	V>L		No	ExAC TOPMed gnomAD ClinGen
CA136804118 rs755572358	670	V>M		No	ExAC TOPMed gnomAD ClinGen
rs766669216 CA3701055	672	V>A		No	ExAC TOPMed gnomAD ClinGen
rs766669216 CA363103648	672	V>G		No	ExAC TOPMed gnomAD ClinGen
CA3701053 rs761774062	676	I>V		No	ExAC gnomAD ClinGen
rs918254626 CA136804067	678	E>*		No	TOPMed gnomAD ClinGen
TCGA novel	678	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1127935 CA136804044	681	L>P		No	Ensembl ClinGen
rs756705300 CA136804034	683	I>T		No	Ensembl ClinGen
rs1289616920 CA363103495	683	I>V		No	ClinGen TOPMed
CA3701050 rs762823018	687	I>V		No	ExAC gnomAD ClinGen
CA3701049 rs776653096	688	Y>*		No	ExAC gnomAD ClinGen
CA3701048 rs771253786	689	V>M		No	ExAC gnomAD ClinGen
CA3701046 rs773475555	690	L>Q		No	ExAC gnomAD ClinGen
rs760659356 CA3701047	690	L>V		No	ExAC gnomAD ClinGen
rs780970102 CA136804020	692	P>L		No	Ensembl ClinGen
CA3701045 rs772309170	694	F>L		No	ExAC gnomAD ClinGen
CA3701044 rs748616871	700	Y>C		No	ExAC TOPMed gnomAD ClinGen
CA363103258 rs1248236247	700	Y>D		No	gnomAD ClinGen
COSM1634699 CA3701043 COSM1634700 rs141928486	703	R>C	liver [Cosmic]	No	ESP ExAC gnomAD ClinGen cosmic curated
COSM1443066 rs768833519 COSM3430460 CA3701042 COSM1443067	703	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA363103217 rs768833519	703	R>L		No	ClinGen ExAC TOPMed gnomAD
CA363103211 rs1242508214	704	T>S		No	TOPMed ClinGen
TCGA novel	705	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1279788475 CA363103152	708	S>L		No	TOPMed gnomAD ClinGen
rs749725967 CA3701040	712	T>I		No	ExAC TOPMed gnomAD ClinGen
CA363103063 rs1452442502	716	K>*		No	gnomAD ClinGen
CA363102975 rs1431269524	719	A>V		No	ClinGen gnomAD
rs377663318 CA3701019	720	N>S		No	ESP ExAC TOPMed gnomAD ClinGen
rs1480095364 CA363102941	722	R>*		No	ClinGen gnomAD
rs770082118 CA3701018	722	R>Q		No	ExAC gnomAD ClinGen
CA3701017 rs745478122	723	A>T		No	ExAC gnomAD ClinGen
rs1204634350 CA363102861	731	A>T		No	gnomAD ClinGen
CA136803836 rs929505826	733	K>T		No	TOPMed gnomAD ClinGen
CA136803833 rs866178679	736	R>C		No	Ensembl ClinGen
rs777560628 CA3701012	736	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs1469755408 CA363102822	737	L>M		No	TOPMed ClinGen
rs765032528 CA3701009	739	T>I		No	ExAC gnomAD ClinGen
CA363102804 rs750605720	740	A>S		No	ExAC TOPMed gnomAD ClinGen
CA3701007 rs750605720	740	A>T		No	ExAC TOPMed gnomAD ClinGen
CA363102778 rs1284983466	743	Y>C		No	ClinGen TOPMed
CA363102781 rs1561971054	743	Y>H		No	Ensembl ClinGen
CA136803805 rs912635699	744	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	Ensembl ClinGen NCI-TCGA
rs986865293 CA136803804	744	Q>P		No	Ensembl ClinGen
rs764473817 CA3701003	745	H>Q		No	ExAC gnomAD ClinGen
CA3701004 rs552880669	745	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA363102762 rs1324064346	746	E>K		No	TOPMed ClinGen
rs775887737 CA3701001	748	E>Q		No	ExAC gnomAD ClinGen
CA3701000 rs536496808	751	T>I		No	1000Genomes ExAC gnomAD ClinGen
TCGA novel	754	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1241654205 CA363102689	756	Q>H		No	ClinGen gnomAD
CA3700999 rs746238891	758	T>I		No	ExAC gnomAD ClinGen
CA136803747 rs913378227	759	S>G		No	TOPMed ClinGen
rs776263802 CA3700998	759	S>R		No	ExAC gnomAD ClinGen
rs957595875 CA136803671	761	G>V		No	TOPMed gnomAD ClinGen
rs1338826107 CA363102653	762	N>S		No	TOPMed gnomAD ClinGen
CA3700996 rs372472529	764	V>M		No	ExAC gnomAD ClinGen
rs1357471715 CA363102581	771	G>E		No	gnomAD ClinGen
rs1271712412 CA363102568	773	H>R		No	TOPMed ClinGen
rs1291336952 CA363102570	773	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
rs1224600820 CA363102562	774	D>Y		No	gnomAD ClinGen
TCGA novel	779	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1281110600 CA363102509	781	L>V		No	ClinGen gnomAD
CA363102502 rs1224034225	782	D>G		No	TOPMed ClinGen
CA3700978 rs770541590	782	D>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs772762809 CA3700977	783	P>A		No	ExAC TOPMed gnomAD ClinGen
CA363102496 rs1303187079	783	P>R		No	ClinGen gnomAD
CA3700976 rs772762809	783	P>S		No	ExAC TOPMed gnomAD ClinGen
rs149087216 CA3700973	786	Y>C		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs760013002 CA136803528	789	L>V		No	Ensembl ClinGen
rs1028204839 CA136803510	790	L>P		No	TOPMed gnomAD ClinGen
rs1127932 CA136803506	792	A>T		No	Ensembl ClinGen
rs865948231 CA136803472	797	Y>C		No	Ensembl ClinGen
CA3700970 rs779951481	797	Y>H		No	ExAC gnomAD ClinGen
rs751750669 CA3700968	803	N>S		No	ExAC gnomAD ClinGen
CA3700967 rs777867178	805	L>P		No	ExAC TOPMed gnomAD ClinGen
rs758503810 CA3700966	809	T>I		No	ExAC gnomAD ClinGen
rs375251870 CA3700964	810	T>M		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
TCGA novel	812	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1732308 rs1299946129 CA363102305 COSM1732309	813	R>*	bone [Cosmic]	No	gnomAD ClinGen cosmic curated
CA363102258 rs1334800788	820	V>L		No	TOPMed gnomAD ClinGen
rs1334800788 CA363102259	820	V>M		No	ClinGen TOPMed gnomAD
TCGA novel	823	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	823	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363102226 rs752792393	824	L>P		No	ExAC gnomAD ClinGen
CA3700940 rs752792393	824	L>Q		No	ExAC gnomAD ClinGen
CA3700941 rs758600862	824	L>V		No	ExAC gnomAD ClinGen
rs377757610 CA3700939	826	K>R		No	ESP ExAC gnomAD ClinGen
rs1407260280 CA363102179	828	I>T		No	gnomAD ClinGen
CA3700936 rs373903397	829	L>*		No	ESP ExAC TOPMed gnomAD ClinGen
rs754286215 CA3700938	829	L>V		No	ClinGen ExAC gnomAD
CA136803314 rs61757583	831	S>C		No	ClinGen Ensembl
CA3700935 rs756485958	831	S>P		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	833	K>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1430393779 CA363102097	833	K>T		No	gnomAD ClinGen
rs757650892 CA136801303	836	C>F		No	ExAC gnomAD ClinGen
rs1359624429 CA363101021	836	C>S		No	gnomAD ClinGen
CA3700915 rs757650892	836	C>Y		No	ExAC gnomAD ClinGen
rs1242226640 CA363100985	838	E>G		No	gnomAD ClinGen
CA3700913 rs763910556	840	I>F		No	ExAC gnomAD ClinGen
CA3700914 rs763910556	840	I>V		No	ExAC gnomAD ClinGen
CA363100937 rs762543794	842	T>A		No	ExAC TOPMed gnomAD ClinGen
rs762543794 CA3700912	842	T>S		No	ExAC TOPMed gnomAD ClinGen
CA3700910 rs74945943	845	A>G		No	ExAC gnomAD ClinGen
CA363100903 rs1307429939	845	A>P		No	gnomAD ClinGen
rs1307429939 CA363100900	845	A>T		No	gnomAD ClinGen
CA3700909 rs759353228	846	M>L		No	ExAC TOPMed gnomAD ClinGen
CA3700907 rs770574744	846	M>R		No	ClinGen ExAC gnomAD
CA3700908 rs770574744	846	M>T		No	ExAC gnomAD ClinGen
CA363100888 rs759353228	846	M>V		No	ExAC TOPMed gnomAD ClinGen
rs746813060 CA3700906	847	L>I		No	ExAC gnomAD ClinGen
rs1420762937 CA363100853	848	S>C		No	gnomAD ClinGen
rs774542988 CA363100825	850	N>K		No	ClinGen ExAC TOPMed gnomAD
rs749334371 CA3700903	851	N>S		No	ExAC TOPMed gnomAD ClinGen
rs749334371 CA3700904	851	N>T		No	ExAC TOPMed gnomAD ClinGen
CA363100788 rs779954614	853	I>N		No	ClinGen ExAC gnomAD
rs779954614 CA3700902	853	I>T		No	ExAC gnomAD ClinGen
rs1355262095 CA363100757	855	Y>C		No	TOPMed gnomAD ClinGen
rs891765304 CA136801249	856	R>*		No	ClinGen TOPMed gnomAD
rs1241636419 CA363100746	856	R>Q		No	gnomAD ClinGen
CA363100698 rs1327635072	860	K>Q		No	gnomAD ClinGen
CA136801234 rs535573253	862	V>F		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA3700899 rs535573253	862	V>I		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA363100639 rs1328280313	864	A>V		No	TOPMed ClinGen
CA363100588 rs1301428740	868	R>C		No	TOPMed gnomAD ClinGen
CA3700898 rs188444038	868	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs188444038 CA363100582	868	R>P		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs752032921 CA3700897	872	F>L		No	ExAC gnomAD ClinGen
CA363100494 rs1409553886	875	G>D		No	gnomAD ClinGen
rs752429838 CA3700894	876	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA363100428 rs1177472754	880	V>A		No	TOPMed ClinGen
rs764604860 CA3700893	884	V>I		No	ExAC gnomAD ClinGen
CA363100349 rs1471850909	887	Q>K		No	ClinGen TOPMed
rs759100521 CA3700892	887	Q>R		No	ExAC gnomAD ClinGen
CA3700878 rs778247205	888	W>*		No	ExAC gnomAD ClinGen
rs1373215963 CA363100285	888	W>C		No	ClinGen gnomAD
rs758857352 CA3700877	891	S>N		No	ExAC gnomAD ClinGen
rs1361099321 CA363100207	894	S>C		No	ClinGen gnomAD
TCGA novel	894	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363100148 rs1247744831	898	C>Y		No	gnomAD ClinGen
CA136801114 rs950016270	899	Y>F		No	TOPMed ClinGen
TCGA novel	900	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753436172 CA3700873	904	Q>H		No	ExAC gnomAD ClinGen
rs754442701 CA3700874	904	Q>R		No	ExAC gnomAD ClinGen
CA3700872 rs766194288	906	R>T		No	ExAC gnomAD ClinGen
CA3700871 rs760565711	907	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs760565711 CA363100042	907	S>W		No	ClinGen ExAC TOPMed gnomAD
rs920233728 CA136801104	908	M>T		No	Ensembl ClinGen
rs1204598241 COSM185122 CA363100021	909	R>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	TOPMed ClinGen cosmic curated NCI-TCGA
CA3700870 rs750378700	909	R>H		No	ClinGen ExAC gnomAD
CA3700869 rs767238773	910	R>*		No	ExAC TOPMed gnomAD ClinGen
CA3700868 rs375049305	910	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA3700865 rs759514769	912	R>Q		No	ExAC gnomAD ClinGen
CA3700866 rs551067405	912	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1413882055 CA363099979	913	D>N		No	gnomAD ClinGen
CA363099951 rs1389174623	915	R>Q		No	gnomAD ClinGen
CA3700863 rs771170421	915	R>W		No	ExAC TOPMed gnomAD ClinGen
CA363099917 rs1410669693	917	Q>H		No	TOPMed ClinGen
rs1236152316 CA363099912	918	L>V		No	gnomAD ClinGen
rs183951964 CA3700861	919	E>G		No	1000Genomes ExAC gnomAD ClinGen
CA3700859 rs772501487	920	G>A		No	ExAC gnomAD ClinGen
rs748615319 CA3700858	921	L>H		No	ExAC gnomAD ClinGen
rs1341634535 CA363099860	922	L>F		No	gnomAD ClinGen
rs879229354 CA136801039	924	R>C		No	Ensembl ClinGen
COSM1077379 rs778406014 COSM1077380 CA3700857	924	R>H	endometrium Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
rs559108150 CA136801016	927	V>A		No	1000Genomes ExAC gnomAD ClinGen
rs559108150 CA3700855	927	V>G		No	1000Genomes ExAC gnomAD ClinGen
rs779490509 CA3700854	928	G>R		No	ExAC TOPMed gnomAD ClinGen
rs755630229 CA3700853	929	L>F		No	ExAC ClinGen
rs755630229 CA136800999	929	L>V		No	ExAC ClinGen
CA363099763 rs1368963520	930	S>N		No	TOPMed ClinGen
CA363099746 rs1426740790	932	C>Y		No	TOPMed ClinGen
TCGA novel	935	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363099718 rs1369462385	935	D>H		No	TOPMed gnomAD ClinGen
CA363099720 rs1369462385	935	D>N		No	ClinGen TOPMed gnomAD
CA363099717 rs1369462385	935	D>Y		No	ClinGen TOPMed gnomAD
CA136800993 rs920554324	937	I>T		No	TOPMed ClinGen
rs370234964 COSM1077375 CA3700849	938	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA3700848 rs751422882	938	R>H		No	ClinGen ExAC TOPMed gnomAD
rs199903836 CA3700846	940	R>C		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA3700847 rs199903836	940	R>G		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs773747627 COSM1443064 CA3700845 COSM1443065	940	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA363099583 rs1401661168	943	I>V		No	gnomAD ClinGen
rs755613843 CA3700834	946	G>V		No	ExAC gnomAD ClinGen
CA363099527 rs1184313509	947	Y>*		No	TOPMed ClinGen
rs745438429 CA3700833	948	F>C		No	ExAC ClinGen
CA3700831 rs781088161	949	Y>H		No	ExAC gnomAD ClinGen
CA363099490 rs1472581692	950	H>Y		No	gnomAD ClinGen
rs757261998 CA363099472	951	T>K		No	ClinGen ExAC TOPMed gnomAD
rs757261998 CA3700830	951	T>M		No	ExAC TOPMed gnomAD ClinGen
rs758142925 CA3700827	953	R>Q		No	ExAC TOPMed gnomAD ClinGen
rs763904184 CA3700828	953	R>W		No	ExAC TOPMed gnomAD ClinGen
COSM1443062 rs1447358889 COSM1443063 CA363099419	956	R>Q	large_intestine [Cosmic]	No	gnomAD ClinGen cosmic curated
CA3700826 rs114836805	956	R>W		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA3700823 rs202208776	959	Y>*		No	ExAC gnomAD ClinGen
CA3700824 rs760826176	959	Y>C		No	ClinGen ExAC gnomAD
CA3700822 rs762331918	960	R>C		No	ExAC TOPMed gnomAD ClinGen
CA3700819 rs768994402	960	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA3700820 rs768994402	960	R>P		No	ExAC TOPMed gnomAD ClinGen
CA3700821 rs762331918	960	R>S		No	ExAC TOPMed gnomAD ClinGen
CA3700818 rs749678313	961	T>A		No	ExAC gnomAD ClinGen
CA363099332 rs1431066354	963	K>*		No	gnomAD ClinGen
CA363099328 rs1290338295	963	K>R		No	gnomAD ClinGen
CA363099317 rs1224612482	964	Q>*		No	TOPMed ClinGen
rs1343014410 CA363099301	965	Q>E		No	TOPMed ClinGen
rs1343014410 CA363099303	965	Q>K		No	TOPMed ClinGen
rs755421363	967	T>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1023057495 CA136800723	970	I>V		No	Ensembl ClinGen
rs1431499636 CA363099180	973	N>S		No	gnomAD ClinGen
CA363099164 rs1181195985	974	S>C		No	TOPMed ClinGen
rs746910792 CA3700809	975	S>F		No	ExAC TOPMed gnomAD ClinGen
CA363099135 rs1481281949	977	F>L		No	TOPMed ClinGen
CA136800706 rs199948636	979	Q>H		No	Ensembl ClinGen
rs758209016 CA3700807	982	R>C		No	ExAC gnomAD ClinGen
rs1206620296 CA363099055	982	R>H		No	TOPMed gnomAD ClinGen
CA363099047 rs1464331707	983	W>R		No	gnomAD ClinGen
rs1212221030 CA363098973	988	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
rs780403635 CA3700805	994	K>R		No	ExAC TOPMed gnomAD ClinGen
CA363098901 rs1306585044	995	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
rs1214749991 CA363098898	995	E>G		No	gnomAD ClinGen
CA3700804 rs756363044	997	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs750695598 CA3700803	998	R>K		No	ExAC gnomAD ClinGen
CA363098847 rs1434844681	998	R>S		No	gnomAD ClinGen
CA3700783 rs754833325	1000	V>I		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	1002	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA136799771 rs941661155	1003	I>F		No	TOPMed ClinGen
rs750606024 CA3700782	1004	E>D		No	ExAC TOPMed gnomAD ClinGen
rs1257412616 CA363098119	1006	S>T		No	TOPMed ClinGen
CA3700781 rs781331484	1009	L>V		No	ExAC TOPMed gnomAD ClinGen
rs757343846 COSM1077373 CA3700780	1012	A>T	Variant assessed as Somatic; 0.0001849 impact. endometrium [NCI-TCGA, Cosmic]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
rs751636618 CA3700779	1016	Y>C		No	ExAC gnomAD ClinGen
CA363098040 rs1488615230	1018	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
rs763413391 CA3700777	1018	A>V		No	ExAC TOPMed ClinGen
rs547315021 CA136799689	1023	D>E		No	ClinGen 1000Genomes
COSM1250050 COSM1250049 rs141923733 CA3700774	1031	K>Q	oesophagus [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
rs200009023 CA136799686	1033	I>T		No	TOPMed ClinGen
rs1348687007 CA363097906	1037	R>*		No	TOPMed gnomAD ClinGen
rs770548224 CA3700771	1037	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA363097884 rs1311268872	1040	L>P		No	TOPMed ClinGen

1 associated diseases with O60231

[MIM: 618733]: Neuromuscular oculoauditory syndrome (NMOAS)

An autosomal dominant neuromuscular disorder characterized by variable features including myopathy, neuropathy, hypotonia, joint contractures, growth delay, chorioretinal lacunae, sensorineuronal deafness, agenesis of the corpus callosum, and seizures. {ECO:0000269|PubMed:31256877}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal dominant neuromuscular disorder characterized by variable features including myopathy, neuropathy, hypotonia, joint contractures, growth delay, chorioretinal lacunae, sensorineuronal deafness, agenesis of the corpus callosum, and seizures. {ECO:0000269|PubMed:31256877}. Note=The disease is caused by variants affecting the gene represented in this entry.

6 regional properties for O60231

Type	Name	Position	InterPro Accession
domain	Helicase, C-terminal	598 - 771	IPR001650
conserved_site	DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site	515 - 524	IPR002464
domain	Helicase-associated domain	791 - 882	IPR007502
domain	DEAD/DEAH box helicase domain	405 - 556	IPR011545
domain	DEAD-box helicase, OB fold	939 - 1015	IPR011709
domain	Helicase superfamily 1/2, ATP-binding domain	397 - 582	IPR014001

Functions

		Description
EC Number	3.6.4.13	Acting on ATP; involved in cellular and subcellular movement
Subcellular Localization	Nucleus Nucleus, nucleoplasm Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
spliceosomal complex	Any of a series of ribonucleoprotein complexes that contain snRNA(s) and small nuclear ribonucleoproteins (snRNPs), and are formed sequentially during the spliceosomal splicing of one or more substrate RNAs, and which also contain the RNA substrate(s) from the initial target RNAs of splicing, the splicing intermediate RNA(s), to the final RNA products. During cis-splicing, the initial target RNA is a single, contiguous RNA transcript, whether mRNA, snoRNA, etc., and the released products are a spliced RNA and an excised intron, generally as a lariat structure. During trans-splicing, there are two initial substrate RNAs, the spliced leader RNA and a pre-mRNA.
U2-type precatalytic spliceosome	A spliceosomal complex that is formed by the recruitment of the preassembled U4/U6.U5 tri-snRNP to the prespliceosome. Although all 5 snRNPs are present, the precatalytic spliceosome is catalytically inactive. The precatalytic spliceosome includes many proteins in addition to those found in the U1, U2 and U4/U6.U5 snRNPs.

4 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity	Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
RNA binding	Binding to an RNA molecule or a portion thereof.
RNA helicase activity	Unwinding of an RNA helix, driven by ATP hydrolysis.

2 GO annotations of biological process

Name	Definition
mRNA splicing, via spliceosome	The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced.
RNA splicing	The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA.

9 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P20095	PRP2	Pre-mRNA-splicing factor ATP-dependent RNA helicase-like protein PRP2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
P43329	hrpA	ATP-dependent RNA helicase HrpA	Escherichia coli (strain K12)	PR
Q8IY37	DHX37	Probable ATP-dependent RNA helicase DHX37	Homo sapiens (Human)	PR
O43143	DHX15	ATP-dependent RNA helicase DHX15	Homo sapiens (Human)	PR
Q8IX18	DHX40	Probable ATP-dependent RNA helicase DHX40	Homo sapiens (Human)	PR
Q6P158	DHX57	Putative ATP-dependent RNA helicase DHX57	Homo sapiens (Human)	PR
Q7L7V1	DHX32	Putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32	Homo sapiens (Human)	PR
Q9H2U1	DHX36	ATP-dependent DNA/RNA helicase DHX36	Homo sapiens (Human)	PR
Q92620	DHX38	Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16	Homo sapiens (Human)	PR

10	20	30	40	50	60
MATPAGLERW	VQDELHSVLG	LSERHVAQFL	IGTAQRCTSA	EEFVQRLRDT	DTLDLSGPAR
70	80	90	100	110	120
DFALRLWNKV	PRKAVVEKPA	RAAEREARAL	LEKNRSYRLL	EDSEESSEET	VSRAGSSLQK
130	140	150	160	170	180
KRKKRKHLRK	KREEEEEEEA	SEKGKKKTGG	SKQQTEKPES	EDEWERTERE	RLQDLEERDA
190	200	210	220	230	240
FAERVRQRDK	DRTRNVLERS	DKKAYEEAQK	RLKMAEEDRK	AMVPELRKKS	RREYLAKRER
250	260	270	280	290	300
EKLEDLEAEL	ADEEFLFGDV	ELSRHERQEL	KYKRRVRDLA	REYRAAGEQE	KLEATNRYHM
310	320	330	340	350	360
PKETRGQPAR	AVDLVEEESG	APGEEQRRWE	EARLGAASLK	FGARDAASQE	PKYQLVLEEE
370	380	390	400	410	420
ETIEFVRATQ	LQGDEEPSAP	PTSTQAQQKE	SIQAVRRSLP	VFPFREELLA	AIANHQVLII
430	440	450	460	470	480
EGETGSGKTT	QIPQYLFEEG	YTNKGMKIAC	TQPRRVAAMS	VAARVAREMG	VKLGNEVGYS
490	500	510	520	530	540
IRFEDCTSER	TVLRYMTDGM	LLREFLSEPD	LASYSVVMVD	EAHERTLHTD	ILFGLIKDVA
550	560	570	580	590	600
RFRPELKVLV	ASATMDTARF	STFFDDAPVF	RIPGRRFPVD	IFYTKAPEAD	YLEACVVSVL
610	620	630	640	650	660
QIHVTQPPGD	ILVFLTGQEE	IEAACEMLQD	RCRRLGSKIR	ELLVLPIYAN	LPSDMQARIF
670	680	690	700	710	720
QPTPPGARKV	VVATNIAETS	LTIEGIIYVL	DPGFCKQKSY	NPRTGMESLT	VTPCSKASAN
730	740	750	760	770	780
QRAGRAGRVA	AGKCFRLYTA	WAYQHELEET	TVPEIQRTSL	GNVVLLLKSL	GIHDLMHFDF
790	800	810	820	830	840
LDPPPYETLL	LALEQLYALG	ALNHLGELTT	SGRKMAELPV	DPMLSKMILA	SEKYSCSEEI
850	860	870	880	890	900
LTVAAMLSVN	NSIFYRPKDK	VVHADNARVN	FFLPGGDHLV	LLNVYTQWAE	SGYSSQWCYE
910	920	930	940	950	960
NFVQFRSMRR	ARDVREQLEG	LLERVEVGLS	SCQGDYIRVR	KAITAGYFYH	TARLTRSGYR
970	980	990	1000	1010	1020
TVKQQQTVFI	HPNSSLFEQQ	PRWLLYHELV	LTTKEFMRQV	LEIESSWLLE	VAPHYYKAKE
1030	1040
LEDPHAKKMP	KKIGKTREEL	G