AiPD: Autoinhibited Protein Database

P49736

Gene name	MCM2
Protein name	DNA replication licensing factor MCM2
Names	Minichromosome maintenance protein 2 homolog, Nuclear protein BM28
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4171
EC number	3.6.4.12: 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)

1-69 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-69 (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

17 structures for P49736

Entry ID	Method	Resolution	Chain	Position	Source
4UUZ	X-ray	290 A	C	69-138	PDB
5BNV	X-ray	279 A	C/F	61-130	PDB
5BNX	X-ray	231 A	C	61-130	PDB
5BO0	X-ray	291 A	C	61-130	PDB
5C3I	X-ray	350 A	D/H/L/P/T/X	63-124	PDB
5JA4	X-ray	242 A	C	61-130	PDB
6XTX	EM	329 A	2	1-904	PDB
6XTY	EM	677 A	2	1-904	PDB
6YA7	X-ray	167 A	C	33-47	PDB
7CIZ	X-ray	180 A	C/G/K	61-130	PDB
7CJ0	X-ray	250 A	G/H	61-130	PDB
7PFO	EM	320 A	2	1-904	PDB
7PLO	EM	280 A	2	1-904	PDB
7W1Y	EM	259 A	2/A	1-904	PDB
7W68	EM	440 A	A	1-904	PDB
8B9D	EM	340 A	2	1-904	PDB
AF-P49736-F1	Predicted				AlphaFoldDB

755 variants for P49736

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000223937 CA2595480 rs375851208 VAR_077049	44	R>C	Autosomal dominant nonsyndromic hearing loss 70 DFNA70; increases the apoptotic process; no effect on cell proliferation and cell cycle phase [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
RCV001334276 CA2595522 rs199660068	93	E>K	Autosomal dominant nonsyndromic hearing loss 70 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001334274 rs373695678 CA2595825	411	E>K	Autosomal dominant nonsyndromic hearing loss 70 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs767616299 CA2595913 RCV001334275	483	P>S	Autosomal dominant nonsyndromic hearing loss 70 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs139336906 CA2595914 RCV003169068 RCV000840077	485	I>T	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs755835919 RCV000625887 CA2595962	542	R>*	Autosomal dominant nonsyndromic hearing loss 70 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1247401070 CA354379177	2	A>E		No	ClinGen TOPMed gnomAD
CA354379159 rs1180671901	2	A>T		No	ClinGen TOPMed
rs1247401070 CA354379165	2	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	3	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2595451 rs779411453	5	S>P		No	ClinGen ExAC gnomAD
rs772081346 CA2595454	10	M>T		No	ClinGen ExAC gnomAD
CA354380069 rs1323537239	10	M>V		No	ClinGen gnomAD
CA2595455 rs773331466	11	A>T		No	ClinGen ExAC gnomAD
rs1410210990 CA354380130	12	S>C		No	ClinGen gnomAD
rs778688260 CA83303669	14	P>A		No	ClinGen ExAC TOPMed gnomAD
rs771192544 CA2595457	14	P>L		No	ClinGen ExAC TOPMed gnomAD
CA354380166 rs771192544	14	P>R		No	ClinGen ExAC TOPMed gnomAD
rs778688260 CA2595456	14	P>S		No	ClinGen ExAC TOPMed gnomAD
CA354380191 rs1444746944	16	Q>H		No	ClinGen TOPMed
CA2595460 rs765085888	17	R>C		No	ClinGen ExAC gnomAD
rs866230256 CA83303702	17	R>H		No	ClinGen Ensembl
rs185298481 CA2595462	18	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs185298481 CA2595463	18	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2595461 rs775610133	18	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1348376063 CA354380245	19	R>*		No	ClinGen gnomAD
rs756651624 CA354380249	19	R>P		No	ClinGen ExAC gnomAD
rs756651624 CA2595465	19	R>Q		No	ClinGen ExAC gnomAD
CA354380268 rs1307579099	21	N>D		No	ClinGen gnomAD
TCGA novel	22	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354380285 rs1321006847	22	D>N		No	ClinGen gnomAD
rs767165577 CA2595467	24	L>F		No	ClinGen ExAC
CA2595468 rs750028509	25	T>I		No	ClinGen ExAC gnomAD
CA354380385 rs1576410052	25	T>P		No	ClinGen Ensembl
CA354380448 rs1359617924	27	S>G		No	ClinGen gnomAD
CA354380460 rs1203986622	27	S>I		No	ClinGen gnomAD
rs1249227952 CA354380477	28	P>S		No	ClinGen gnomAD
rs1181496683 CA354380518	30	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1183303134 CA354380532	30	R>Q		No	ClinGen gnomAD
CA2595469 rs755366699	31	S>I		No	ClinGen ExAC gnomAD
rs142494006 CA354380603	33	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2595471 rs142494006 RCV000912247	33	R>Q		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA2595470 rs144051770 COSM1214716	33	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs758941392 CA2595472	34	R>C		No	ClinGen ExAC gnomAD
CA2595473 rs749193916	34	R>H		No	ClinGen ExAC TOPMed gnomAD
rs749193916 CA83303741	34	R>P		No	ClinGen ExAC TOPMed gnomAD
rs758941392 CA354380611	34	R>S		No	ClinGen ExAC gnomAD
CA83303753 rs1055207216	37	A>V		No	ClinGen TOPMed gnomAD
rs1559859637 CA354380692	38	L>F		No	ClinGen Ensembl
CA2595475 rs745488384	39	T>I		No	ClinGen ExAC TOPMed gnomAD
CA354380702 rs1576410104	39	T>P		No	ClinGen Ensembl
rs1378187591 CA354380742	40	S>C		No	ClinGen gnomAD
rs1174580506 CA354380760	42	P>A		No	ClinGen gnomAD
CA2595481 rs572334760	44	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs572334760 CA2595482	44	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	48	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354380865 rs1352111513	50	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA83303800 rs771946607	54	E>K		No	ClinGen TOPMed
CA2595487 rs760296226	56	L>F		No	ClinGen ExAC gnomAD
CA2595489 rs753111466	57	L>V		No	ClinGen ExAC gnomAD
TCGA novel	59	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2595490 rs758633607	60	E>D		No	ClinGen ExAC TOPMed gnomAD
CA2595491 rs778367347	61	G>E		No	ClinGen ExAC TOPMed gnomAD
rs778367347 CA354380975	61	G>V		No	ClinGen ExAC TOPMed gnomAD
CA354380979 rs1175630953	62	P>A		No	ClinGen gnomAD
CA354380977 rs1175630953	62	P>T		No	ClinGen gnomAD
CA354381030 rs757457211	66	E>D		No	ClinGen ExAC gnomAD
CA2595492 rs751974456	66	E>Q		No	ClinGen ExAC gnomAD
rs1343512840 CA354381026	66	E>V		No	ClinGen TOPMed
rs201221422 CA83303834	67	E>G		No	ClinGen 1000Genomes
RCV000838302 VAR_021111 CA2595494 rs3087452	68	D>E		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs775184023 CA83303835	68	D>N		No	ClinGen Ensembl
CA354381082 rs796576308	71	E>D		No	ClinGen TOPMed gnomAD
CA354381099 rs1331240380	73	I>T		No	ClinGen gnomAD
CA2595495 rs746153512	73	I>V		No	ClinGen ExAC gnomAD
rs749119167 CA2595498	77	M>I		No	ClinGen ExAC TOPMed gnomAD
CA2595497 rs780354621	77	M>V		No	ClinGen ExAC gnomAD
TCGA novel	78	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354381160 rs1264175015	79	R>G		No	ClinGen gnomAD
CA2595514 rs200588762	82	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs780341645 CA2595515	82	R>H		No	ClinGen ExAC TOPMed gnomAD
CA354382270 rs780341645	82	R>L		No	ClinGen ExAC TOPMed gnomAD
CA354382293 rs768536290	83	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2595517 rs768536290	83	A>T		No	ClinGen ExAC TOPMed gnomAD
CA83307183 rs979652606	84	I>F		No	ClinGen TOPMed
rs979652606 CA83307178	84	I>V		No	ClinGen TOPMed
CA83307185 rs935605350	86	E>Q		No	ClinGen TOPMed
CA2595518 rs778548957	89	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	89	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1268768426 CA354382409	90	Y>*		No	ClinGen gnomAD
rs781703421 CA83307215	90	Y>F		No	ClinGen Ensembl
CA83307210 rs896184599	90	Y>N		No	ClinGen Ensembl
rs374471462 CA2595519	92	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs150844852 CA2595523	93	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA354382461 rs1438082949	93	E>D		No	ClinGen gnomAD
CA2595524 rs776389599	101	D>G		No	ClinGen ExAC gnomAD
rs1000674269 CA83307281	102	V>I		No	ClinGen gnomAD
rs764579927 CA2595526	106	T>M		No	ClinGen ExAC TOPMed gnomAD
CA354382707 rs1163266373	110	R>K		No	ClinGen TOPMed
rs768147745 CA354382718	111	E>K		No	ClinGen ExAC TOPMed gnomAD
rs768147745 CA2595529	111	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA2595530 rs752379746	115	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs201721106 CA83307294	115	R>W		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs1179695255 CA354382799	116	A>T		No	ClinGen gnomAD
CA2595531 rs139163788	118	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1009928418 CA83307306	119	Q>H		No	ClinGen TOPMed gnomAD
rs557549454 CA2595533	120	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2595534 rs755140598	120	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2595537 rs758142097	122	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs747951983 CA2595536	122	R>W		No	ClinGen ExAC gnomAD
rs1336733706 CA354382854	123	E>D		No	ClinGen TOPMed gnomAD
rs1447941752 CA354382856	124	A>S		No	ClinGen gnomAD
rs572919483 CA83307352	126	R>G		No	ClinGen 1000Genomes TOPMed
CA2595539 rs149927939	126	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs572919483 CA83307358	126	R>W		No	ClinGen 1000Genomes TOPMed
rs1274048694 CA354382873	127	G>D		No	ClinGen gnomAD
rs1246850000 CA354382871	127	G>S		No	ClinGen gnomAD
TCGA novel	129	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770528099 CA2595541	130	R>C		No	ClinGen ExAC TOPMed gnomAD
rs775995747 CA2595542	130	R>H		No	ClinGen ExAC TOPMed gnomAD
rs775995747 CA354382890	130	R>L		No	ClinGen ExAC TOPMed gnomAD
CA2595544 rs769338291	132	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2595546 rs201216288	132	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA2595545 rs201216288	132	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767949485 CA2595547	133	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2595548 rs34997321	133	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1173176860 CA354382909	134	G>R		No	ClinGen TOPMed
rs2307314 CA2595549 VAR_021112	135	L>F		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs766538650 CA2595550	137	Y>C		No	ClinGen ExAC gnomAD
CA2595575 rs757022426	138	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1159044582 CA354382949	139	S>G		No	ClinGen gnomAD
rs377197527 CA354382955	139	S>R		No	ClinGen ExAC TOPMed gnomAD
rs750332461 CA2595578	140	D>N		No	ClinGen ExAC TOPMed gnomAD
CA2595577 rs750332461	140	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA2595580 rs145141037	141	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2595579 rs779685734	141	E>K		No	ClinGen ExAC gnomAD
CA83307649 rs940592758	142	E>K		No	ClinGen TOPMed gnomAD
rs768419201 CA2595581	143	D>N		No	ClinGen ExAC gnomAD
CA354382983 rs139973267	144	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139973267 CA2595583	144	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA83307660 rs139973267	144	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200927653 CA2595584	146	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs190889381 CA2595585 COSM1037910	146	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA354382998 rs190889381	146	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA83307664 rs200927653	146	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1355116640 CA354383009	148	A>G		No	ClinGen TOPMed gnomAD
CA2595586 rs760067459	148	A>T		No	ClinGen ExAC TOPMed gnomAD
CA354383010 rs1355116640	148	A>V		No	ClinGen TOPMed gnomAD
CA2595588 rs769924051	149	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2595587 rs769924051	149	R>G		No	ClinGen ExAC TOPMed gnomAD
rs35343063 CA2595589	149	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA83307738 rs550029272	150	K>E		No	ClinGen 1000Genomes TOPMed gnomAD
CA354383018 rs1250083300	150	K>N		No	ClinGen gnomAD
rs764317061 CA2595590	150	K>R		No	ClinGen ExAC TOPMed gnomAD
CA83307739 rs917474993	151	R>C		No	ClinGen TOPMed gnomAD
CA2595591 rs751729409	151	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA354383025 rs1367954911	152	R>C		No	ClinGen TOPMed gnomAD
CA2595592 rs200231306	152	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA2595593 rs767309292	153	Q>E		No	ClinGen ExAC gnomAD
CA2595594 rs368377044	153	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA83307747 rs988789669	154	V>M		No	ClinGen TOPMed gnomAD
rs779777733 CA2595597	156	R>Q		No	ClinGen ExAC TOPMed
rs756064496 CA2595595	156	R>W		No	ClinGen ExAC TOPMed gnomAD
COSM1214713 rs1307685065 CA354383059	158	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs753401937 CA2595598	158	T>S		No	ClinGen ExAC gnomAD
CA2595601 rs747807511	160	D>G		No	ClinGen ExAC gnomAD
CA2595600 rs778740195	160	D>Y		No	ClinGen ExAC gnomAD
CA2595603 rs781608180	161	G>S		No	ClinGen ExAC TOPMed gnomAD
rs770294155 CA2595606	162	E>K		No	ClinGen ExAC TOPMed gnomAD
CA354383103 rs562643137 CA354383102	164	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000827226 rs749079722	164	D>missing		No	ClinVar dbSNP
rs566433714 CA2595608	165	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA354383104 rs566433714	165	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354383113 rs1487557415	166	E>G		No	ClinGen TOPMed
rs1048225 CA83307825	166	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA2595610 rs1048225 VAR_033298	166	E>Q		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
rs1167017630 COSM78064 CA354383118	167	M>V	ovary [Cosmic]	No	ClinGen cosmic curated gnomAD
CA354383130 rs893293	168	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2595611 rs762068793	168	I>T		No	ClinGen ExAC gnomAD
rs1490283503 CA354383131	169	E>K		No	ClinGen TOPMed
rs1298650858 CA354383144	170	S>I		No	ClinGen gnomAD
CA354383153 rs62264117	171	I>M		No	ClinGen ExAC TOPMed gnomAD
CA354383148 rs1264094954	171	I>V		No	ClinGen TOPMed
CA354383154 rs1294878320	172	E>K		No	ClinGen TOPMed
CA2595614 rs760479109	176	D>H		No	ClinGen ExAC TOPMed gnomAD
CA2595615 rs760479109	176	D>N		No	ClinGen ExAC TOPMed gnomAD
CA83307861 rs1053984574	178	K>*		No	ClinGen Ensembl
rs753779046 CA2595616	180	H>P		No	ClinGen ExAC gnomAD
rs913653873 CA83307879	180	H>Y		No	ClinGen TOPMed gnomAD
rs1293054823 CA354383243	181	S>P		No	ClinGen gnomAD
rs752350628 CA2595619	182	V>A		No	ClinGen ExAC gnomAD
rs758068207 CA2595620	183	R>C		No	ClinGen ExAC gnomAD
rs777228063 CA2595621	183	R>H		No	ClinGen ExAC gnomAD
COSM3846124 CA2595623 rs756423886	184	E>K	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2595624 rs780566957	185	W>*		No	ClinGen ExAC gnomAD
CA2595625 rs749761247	186	V>A		No	ClinGen ExAC gnomAD
rs774472619 CA2595627	188	M>I		No	ClinGen ExAC gnomAD
CA2595626 rs768768762	188	M>T		No	ClinGen ExAC gnomAD
CA2595628 rs555504342	189	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA83307951 rs890394408	191	P>H		No	ClinGen Ensembl
TCGA novel	192	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354383426 rs776760062	192	R>P		No	ClinGen ExAC gnomAD
CA2595633 rs776760062	192	R>Q		No	ClinGen ExAC gnomAD
rs199665704 CA2595632	192	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354383441 rs1576412991	194	E>G		No	ClinGen Ensembl
CA354383456 rs1576412993	195	I>S		No	ClinGen Ensembl
CA2595636 rs752260808	196	H>Y		No	ClinGen ExAC gnomAD
rs757793507 CA2595637	197	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs376214773 CA2595638	198	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1425333545 CA354383518	200	K>E		No	ClinGen gnomAD
TCGA novel	200	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354383570 rs1264361762	204	R>C		No	ClinGen gnomAD
rs756507591 CA2595641	204	R>H		No	ClinGen ExAC gnomAD
rs1212021897 CA354383580	205	T>A		No	ClinGen TOPMed
rs780372648 CA2595642	205	T>I		No	ClinGen ExAC gnomAD
rs780372648 CA2595643	205	T>S		No	ClinGen ExAC gnomAD
rs755470398 CA83308022	206	H>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	207	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375722226 CA2595645	207	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA2595646 rs201424836	208	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA83308054 rs933252319	211	G>S		No	ClinGen TOPMed
rs771995248 CA2595647	213	N>S		No	ClinGen ExAC
rs747213100 CA2595649	214	V>I		No	ClinGen ExAC TOPMed gnomAD
rs770907129 CA2595650	215	F>L		No	ClinGen ExAC gnomAD
CA83308060 rs556162256	217	E>G		No	ClinGen 1000Genomes
rs759341862 CA2595652	218	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1346465063 CA354383721	219	I>L		No	ClinGen gnomAD
rs1050193079 CA83308080	219	I>M		No	ClinGen TOPMed gnomAD
rs201262336 CA2595653	220	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1576413061 CA354383737	221	D>G		No	ClinGen Ensembl
CA83308095 COSM1214712 rs748382618	221	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA2595655 rs762558936	222	M>V		No	ClinGen ExAC gnomAD
CA354383768 rs1222577340	224	K>*		No	ClinGen gnomAD
rs1401797822 CA354383777	224	K>N		No	ClinGen TOPMed
CA354383774 rs1286424750	224	K>R		No	ClinGen gnomAD
rs1317653959 CA354383785	225	E>*		No	ClinGen TOPMed gnomAD
rs1317653959 CA354383784	225	E>Q		No	ClinGen TOPMed gnomAD
CA2595684 rs758827196	227	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2595685 rs370122469	227	R>H		No	ClinGen ESP ExAC gnomAD
CA2595686 rs370122469	227	R>L		No	ClinGen ESP ExAC gnomAD
rs781599841 CA354383967	230	L>M		No	ClinGen ExAC TOPMed gnomAD
rs755982652 CA2595690	231	V>G		No	ClinGen ExAC gnomAD
TCGA novel	232	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354384027 rs1338473292	233	N>K		No	ClinGen gnomAD
rs749311282 CA2595692	233	N>S		No	ClinGen ExAC gnomAD
rs1364396200 CA354384089	235	E>D		No	ClinGen TOPMed
CA2595693 rs768479679	236	D>E		No	ClinGen ExAC TOPMed gnomAD
CA354384103 rs774214776	237	L>M		No	ClinGen ExAC gnomAD
rs1438268553 CA354384119	238	A>V		No	ClinGen gnomAD
TCGA novel	239	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201515306 CA2595695	242	H>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA83309013 rs201515306	242	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA83309038 rs761634324	243	V>A		No	ClinGen TOPMed
rs772891132 CA354384184	243	V>L		No	ClinGen ExAC gnomAD
rs772891132 CA2595697	243	V>M		No	ClinGen ExAC gnomAD
CA354384223 rs1285084050	245	A>G		No	ClinGen TOPMed
CA2595699 rs765701157	251	A>G		No	ClinGen ExAC gnomAD
rs775724215 CA2595700	252	P>A		No	ClinGen ExAC gnomAD
CA2595702 rs144115876	252	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2595701 rs775724215	252	P>S		No	ClinGen ExAC gnomAD
CA2595705 rs538771114	253	A>V		No	ClinGen ExAC TOPMed gnomAD
rs756282063 CA354384378	254	E>D		No	ClinGen ExAC gnomAD
CA354384428 rs1370278109	257	Q>H		No	ClinGen TOPMed gnomAD
CA354384419 rs1433174410	257	Q>R		No	ClinGen gnomAD
CA354384441 rs1296751279	258	I>V		No	ClinGen TOPMed
rs746821413 CA83309097	264	L>V		No	ClinGen ExAC gnomAD
rs1325622795 CA354384586	265	E>K		No	ClinGen gnomAD
rs1576413722 CA354384614	266	V>G		No	ClinGen Ensembl
rs1559862418 CA354384619	267	V>L		No	ClinGen Ensembl
rs1162949684 CA354384650	269	A>S		No	ClinGen TOPMed
rs1559862429 CA354384663	270	M>V		No	ClinGen Ensembl
rs770505213 CA2595717	271	Y>H		No	ClinGen ExAC
rs557574890 CA83309181	275	D>E		No	ClinGen ExAC gnomAD
rs144753488 CA2595720	275	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA83309197 rs981458128	276	R>C		No	ClinGen TOPMed gnomAD
CA2595722 rs567359279	276	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354384798 rs1302017531	277	I>V		No	ClinGen gnomAD
rs750471417 CA2595724	281	I>V		No	ClinGen ExAC gnomAD
CA354384896 rs1284488754	282	H>R		No	ClinGen TOPMed
rs1319296726 CA354384890	282	H>Y		No	ClinGen gnomAD
CA354384904 rs1208910253	283	V>L		No	ClinGen TOPMed
CA2595726 rs766530339	284	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2595728 rs148533176	284	R>H		No	ClinGen ESP ExAC gnomAD
CA2595727 rs148533176	284	R>L		No	ClinGen ESP ExAC gnomAD
rs1347256995 CA354384915	285	I>V		No	ClinGen gnomAD
CA83309233 rs937429508	286	S>F		No	ClinGen Ensembl
rs778656605 CA354384943	287	H>D		No	ClinGen ExAC gnomAD
rs752698953 CA2595730	287	H>P		No	ClinGen ExAC gnomAD
CA83309239 rs1029791703	287	H>Q		No	ClinGen TOPMed
CA2595729 rs778656605	287	H>Y		No	ClinGen ExAC gnomAD
rs758336460 CA2595731	291	V>L		No	ClinGen ExAC gnomAD
CA354385022 rs1284574032	295	R>C		No	ClinGen TOPMed gnomAD
rs1202619807 CA354385023	295	R>H		No	ClinGen TOPMed gnomAD
rs1202619807 CA354385024	295	R>P		No	ClinGen TOPMed gnomAD
rs199968234 CA2595733	296	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1271511853 CA354385031	297	L>M		No	ClinGen gnomAD
rs1485130273 CA354385097	305	L>V		No	ClinGen TOPMed
rs780744310 CA2595752	307	R>C		No	ClinGen ExAC TOPMed gnomAD
RCV001269624 rs2074353310	307	R>P		No	ClinVar dbSNP
CA354385120 rs1381490827	309	S>G		No	ClinGen gnomAD
CA354385126 rs1576414019	309	S>R		No	ClinGen Ensembl
CA83309729 rs909917928	310	G>R		No	ClinGen TOPMed
rs1316775347 CA354385136	311	V>A		No	ClinGen gnomAD
rs141867973 CA2595753	312	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1481867506 CA354385152	314	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs973113292 CA83309768	316	T>A		No	ClinGen TOPMed
CA354385168 rs1336864381	316	T>I		No	ClinGen TOPMed
CA354385169 rs1336864381	316	T>S		No	ClinGen TOPMed
rs1242593651 CA354385173	317	G>D		No	ClinGen gnomAD
CA2595758 rs772439652	318	V>I		No	ClinGen ExAC TOPMed gnomAD
CA354385205 rs1428169571	322	L>R		No	ClinGen TOPMed gnomAD
rs558806976 CA2595760	324	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA83309793 rs934224763	325	V>I		No	ClinGen TOPMed
rs770973528 CA2595761	328	N>D		No	ClinGen ExAC gnomAD
CA354385245 rs1162173809	328	N>S		No	ClinGen TOPMed
CA354385263 rs1449886305	330	N>I		No	ClinGen gnomAD
rs1379368705 CA354385266	331	K>E		No	ClinGen gnomAD
CA354385269 rs1381306330	331	K>T		No	ClinGen gnomAD
rs776697432 CA2595762	333	N>D		No	ClinGen ExAC gnomAD
rs769240154 CA2595763	333	N>S		No	ClinGen ExAC TOPMed gnomAD
rs775651689 CA354385297	335	V>F		No	ClinGen ExAC TOPMed gnomAD
rs775651689 CA2595765	335	V>I		No	ClinGen ExAC TOPMed gnomAD
rs762779067 CA2595766	336	L>M		No	ClinGen ExAC gnomAD
rs971179795 CA83309896	336	L>R		No	ClinGen Ensembl
CA2595767 rs763930660	338	P>S		No	ClinGen ExAC gnomAD
CA2595768 rs751513310	339	F>L		No	ClinGen ExAC gnomAD
CA354385331 rs1185069450	341	Q>E		No	ClinGen gnomAD
rs139899850 CA2595769	342	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1430138431 CA354385345	343	Q>*		No	ClinGen gnomAD
CA83309916 rs773742398	344	N>K		No	ClinGen Ensembl
rs749963918 CA2595771	346	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1002703577 CA83309929	349	P>A		No	ClinGen TOPMed gnomAD
CA2595773 rs779881945	350	G>C		No	ClinGen ExAC gnomAD
CA2595774 rs748915655	350	G>D		No	ClinGen ExAC gnomAD
rs771271221 CA83309966	357	S>L		No	ClinGen gnomAD
rs201802595 CA2595778	359	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201802595 CA2595777	359	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354385459 rs1225895890	360	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1344114578 CA354385455	360	P>S		No	ClinGen TOPMed gnomAD
rs1344114578 CA354385457	360	P>T		No	ClinGen TOPMed gnomAD
CA2595779 rs200752349 RCV000842302	364	N>K		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1214738786 CA354385495	365	M>T		No	ClinGen TOPMed
rs958856475 CA83309995	366	E>D		No	ClinGen Ensembl
rs749264559 CA2595800	370	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA354386058 rs1576414877	372	N>T		No	ClinGen Ensembl
rs1576414881 CA354386073	373	Y>S		No	ClinGen Ensembl
rs1395548967 CA354386084	374	Q>K		No	ClinGen TOPMed
CA354386100 rs1223627990	375	R>C		No	ClinGen TOPMed gnomAD
rs768932820 CA2595801	375	R>H		No	ClinGen ExAC gnomAD
TCGA novel	377	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774383866 CA2595802	377	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA83311467 rs761696595	379	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA2595803 rs761696595	379	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs924361085 CA83311481	381	S>G		No	ClinGen TOPMed
CA2595805 rs771959565	382	P>A		No	ClinGen ExAC gnomAD
rs1439921095 CA354386204	382	P>L		No	ClinGen gnomAD
CA2595804 rs771959565	382	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2595808 rs146752036	383	G>D		No	ClinGen ESP ExAC gnomAD
CA83311549 rs976539510	384	K>N		No	ClinGen Ensembl
CA2595809 rs758921122	385	V>M		No	ClinGen ExAC TOPMed gnomAD
rs139136642 CA354386252	386	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs139136642 CA2595810	386	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs377581276 CA2595812	389	R>W		No	ClinGen ESP ExAC gnomAD
CA354386299 rs1377816204	390	L>V		No	ClinGen gnomAD
rs549315427 CA83311618	391	P>S		No	ClinGen Ensembl
rs932560510 CA83311624	392	R>C		No	ClinGen TOPMed gnomAD
rs144869999 CA2595814 COSM1495388	392	R>H	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs756622012 CA2595815	394	K>E		No	ClinGen ExAC gnomAD
RCV000604524 VAR_016137 RCV000712272 rs3087450 CA2595817	396	A>T		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2595820 rs748293762	400	A>G		No	ClinGen ExAC TOPMed gnomAD
rs371462307 CA2595819	400	A>T		No	ClinGen ExAC TOPMed gnomAD
CA354386442 rs1305943403	402	L>M		No	ClinGen TOPMed
CA354386478 rs1473588338	404	D>E		No	ClinGen gnomAD
rs772049358 RCV000992292 CA2595821	405	S>G		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA354386483 rs1419330923	405	S>N		No	ClinGen gnomAD
CA354386500 rs1370755306	406	C>G		No	ClinGen TOPMed
CA354386548 rs1172680733	409	G>R		No	ClinGen TOPMed
CA2595824 rs202032909	410	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1346567721 CA354386679	417	I>V		No	ClinGen TOPMed gnomAD
rs1444942264 CA354386747	421	N>S		No	ClinGen TOPMed gnomAD
rs1444942264 CA354386745	421	N>T		No	ClinGen TOPMed gnomAD
rs1207523354 CA354386740	421	N>Y		No	ClinGen gnomAD
TCGA novel	422	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762387649 CA2595847	423	D>H		No	ClinGen ExAC gnomAD
rs763762735 CA2595848	423	D>V		No	ClinGen ExAC TOPMed gnomAD
CA354386788 rs1480395555	424	G>D		No	ClinGen gnomAD
CA2595849 rs371208727	425	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA83312263 rs369473650	426	L>V		No	ClinGen ESP
rs531775518 CA83312272	427	N>S		No	ClinGen TOPMed
rs201123662 CA83312277	428	T>P		No	ClinGen Ensembl
rs372110727 CA2595851 RCV000658030	430	N>I		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs372110727 CA2595852	430	N>S		No	ClinGen ExAC TOPMed gnomAD
rs758512953 CA2595856	433	P>T		No	ClinGen ExAC TOPMed gnomAD
CA354386939 rs1368680304	436	A>G		No	ClinGen TOPMed
CA83312307 rs796922472	438	V>I		No	ClinGen TOPMed gnomAD
rs372976124 CA2595858	440	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs757173924 CA2595859	442	N>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs780841951 CA2595860	443	H>Q		No	ClinGen ExAC gnomAD
CA2595862 rs199539311	444	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2595861 COSM1037915 rs199539311	444	V>M	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs775445540 CA2595863	445	A>V		No	ClinGen ExAC gnomAD
rs1270045659 CA354387089	447	K>N		No	ClinGen gnomAD
CA354387109 rs1181105984	449	N>K		No	ClinGen gnomAD
CA2595864 rs748832537	451	V>F		No	ClinGen ExAC TOPMed gnomAD
CA354387142 rs1576415270	451	V>G		No	ClinGen Ensembl
rs376973485 CA2595867	458	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA354387281 rs1291589577	459	E>A		No	ClinGen gnomAD
CA83312385 rs1029825664	460	D>E		No	ClinGen TOPMed gnomAD
CA2595869 rs776866004	461	V>E		No	ClinGen ExAC gnomAD
COSM1741497 rs766835318 CA2595868	461	V>M	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs190988564 CA83312411	463	M>L		No	ClinGen 1000Genomes
rs182603137 CA2595871	465	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA354387376 rs1309588198	465	T>I		No	ClinGen TOPMed gnomAD
CA83312466 rs975351069	470	D>A		No	ClinGen TOPMed
rs965448999 CA83312464	470	D>N		No	ClinGen TOPMed
rs764254320 CA2595874	471	Q>E		No	ClinGen ExAC gnomAD
rs1559863651 CA354387523	472	Q>H		No	ClinGen Ensembl
rs751895936 CA2595875	473	I>F		No	ClinGen ExAC gnomAD
CA2595878 rs745669398	474	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1240526317 CA354389496	477	I>T		No	ClinGen gnomAD
rs1354713733 CA354389490	477	I>V		No	ClinGen gnomAD
rs774955552 CA2595911	479	A>G		No	ClinGen ExAC
CA2595910 rs769305963	479	A>T		No	ClinGen ExAC gnomAD
rs761834336 CA2595912	482	A>G		No	ClinGen ExAC gnomAD
rs760949578 CA2595915	486	Y>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	486	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2595916 rs760949578	486	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs1181571941 CA354389699	491	I>L		No	ClinGen gnomAD
rs1044562787 CA83319704	492	K>N		No	ClinGen TOPMed
rs1409831807 CA354389721	492	K>R		No	ClinGen TOPMed
rs1412170075 CA354389736	494	G>V		No	ClinGen gnomAD
rs889710951 CA83319709	497	L>M		No	ClinGen gnomAD
CA2595919 rs778853045	498	A>G		No	ClinGen ExAC TOPMed gnomAD
rs754719915 CA2595918	498	A>S		No	ClinGen ExAC gnomAD
rs757903789 CA2595922	500	F>L		No	ClinGen ExAC TOPMed gnomAD
VAR_033299 CA2595923 RCV000992293 rs13087457	501	G>R		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs756981926 CA2595924	502	G>R		No	ClinGen ExAC gnomAD
rs150403449 CA2595925	504	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	506	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2595941 rs751099884	509	G>S		No	ClinGen ExAC gnomAD
rs756785735 CA2595942	512	K>N		No	ClinGen ExAC gnomAD
CA83320211 rs769116746	512	K>R		No	ClinGen Ensembl
rs1230396016 CA354390042	514	R>C		No	ClinGen gnomAD
CA354390044 rs1273687863	514	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2595943 rs781027343	515	G>D		No	ClinGen ExAC gnomAD
rs1465402349 CA354390080	517	I>T		No	ClinGen TOPMed
rs745488877 CA2595944	517	I>V		No	ClinGen ExAC gnomAD
CA2595946 rs138119298	518	N>D		No	ClinGen ESP ExAC
CA2595948 rs772649245	518	N>K		No	ClinGen ExAC TOPMed gnomAD
rs149592386 CA2595947	518	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773545652 CA2595949	519	V>L		No	ClinGen ExAC gnomAD
CA83320249 rs1030609116	520	L>P		No	ClinGen TOPMed
rs765374894 CA2595954	521	L>F		No	ClinGen ExAC gnomAD
CA2595953 rs759750157	521	L>S		No	ClinGen ExAC gnomAD
CA354390127 rs1246466444	524	D>N		No	ClinGen TOPMed
CA354390172 rs1364253280	530	S>L		No	ClinGen TOPMed
rs1436915937 CA354390182	532	F>L		No	ClinGen TOPMed
rs1388706641 CA354390185	532	F>S		No	ClinGen TOPMed
CA2595958 rs751417348	534	K>R		No	ClinGen ExAC TOPMed gnomAD
CA2595959 rs756873626	535	Y>C		No	ClinGen ExAC gnomAD
rs1393553154 CA354390214	536	I>T		No	ClinGen TOPMed
CA2595961 rs750172350	539	V>A		No	ClinGen ExAC gnomAD
CA83320311 rs902295083	540	S>P		No	ClinGen Ensembl
rs779518615 CA2595964	542	R>P		No	ClinGen ExAC gnomAD
CA2595963 rs779518615	542	R>Q		No	ClinGen ExAC gnomAD
CA354390258 rs1264465872	544	I>V		No	ClinGen TOPMed gnomAD
rs747493705 CA2595967	547	T>A		No	ClinGen ExAC gnomAD
CA354390301 rs1158327551	550	G>E		No	ClinGen gnomAD
TCGA novel	551	A>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	551	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2595969 rs781253937	551	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1385494212 CA354390319	552	S>L		No	ClinGen gnomAD
rs1160261789 CA354390315	552	S>T		No	ClinGen gnomAD
rs1576419100 CA354390341	554	V>G		No	ClinGen Ensembl
rs775531941 COSM4157233 CA2595972	557	T>M	thyroid [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs768309904 CA2595974	558	A>V		No	ClinGen ExAC gnomAD
TCGA novel	559	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2595976 rs761840962	561	Q>R		No	ClinGen ExAC gnomAD
rs199793381 CA2595979	562	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs199793381 COSM3784302 CA2595978	562	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs767499238 CA2595977 COSM1037916	562	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs866264501 CA83320359	563	H>Y		No	ClinGen gnomAD
rs766088864 CA2595980	564	P>L		No	ClinGen ExAC gnomAD
rs1576419119 CA354390441	565	V>A		No	ClinGen Ensembl
rs753401204 CA2595981	565	V>I		No	ClinGen ExAC gnomAD
rs758847732 CA2595983	566	S>I		No	ClinGen ExAC
rs1272284580 CA354390464	567	R>S		No	ClinGen TOPMed
CA354390462 rs1341189748	567	R>T		No	ClinGen TOPMed
CA354390458 rs1223186324	567	R>W		No	ClinGen TOPMed
rs1362226464 CA354390468	568	E>K		No	ClinGen TOPMed
rs751854368 CA354390538	573	A>P		No	ClinGen ExAC TOPMed gnomAD
rs751854368 CA2595986	573	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1441795104 CA354390549	574	G>R		No	ClinGen gnomAD
rs949270932 CA83320362	575	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1304279350 CA354390582	577	V>L		No	ClinGen TOPMed
rs757772331 CA2595987	579	A>G		No	ClinGen ExAC gnomAD
rs1457321529 CA354390627	581	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA2595988 rs781626740	581	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1461462601 COSM3940266 CA354390640	582	G>A	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1461462601 CA354390642	582	G>E		No	ClinGen gnomAD
rs745974889 CA2595989	582	G>R		No	ClinGen ExAC gnomAD
CA354390655 rs1576419167	583	V>G		No	ClinGen Ensembl
CA2595990 rs769727765	585	L>V		No	ClinGen ExAC gnomAD
CA83320367 rs1044959034	589	F>Y		No	ClinGen Ensembl
rs1170884522 CA354390740	590	D>G		No	ClinGen TOPMed
CA2596020 rs759035458	595	Q>H		No	ClinGen ExAC gnomAD
rs1376662567 CA354390839	595	Q>K		No	ClinGen gnomAD
rs1378882270 CA354390856	596	D>G		No	ClinGen TOPMed
rs764899546 CA2596021	598	T>A		No	ClinGen ExAC gnomAD
CA354390884 rs1301469530	598	T>S		No	ClinGen TOPMed
TCGA novel	601	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1399896987 CA354390943	602	E>G		No	ClinGen gnomAD
rs775089072 CA2596022	603	A>T		No	ClinGen ExAC gnomAD
rs767850681 CA2596024	606	Q>L		No	ClinGen ExAC gnomAD
rs1266842141 CA354391025	607	Q>H		No	ClinGen gnomAD
CA354391051 rs751002734	609	I>S		No	ClinGen ExAC gnomAD
CA2596025 rs751002734	609	I>T		No	ClinGen ExAC gnomAD
rs756586736 CA2596026	610	S>C		No	ClinGen ExAC gnomAD
CA354391071 rs1407152354	611	I>V		No	ClinGen TOPMed
rs766855733 CA2596027	612	S>L		No	ClinGen ExAC gnomAD
CA354391090 rs766855733	612	S>W		No	ClinGen ExAC gnomAD
rs1201337088 CA354391114	614	A>S		No	ClinGen gnomAD
rs905971640 CA83320529	615	G>S		No	ClinGen TOPMed gnomAD
rs755049339 CA2596030	616	I>M		No	ClinGen ExAC TOPMed gnomAD
CA354391159 rs1260876302	617	V>I		No	ClinGen gnomAD
CA354391199 rs1576419336	618	T>P		No	ClinGen Ensembl
rs372340490 CA2596032	623	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs372340490 CA354391318	623	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2596033 rs777706924	623	R>H		No	ClinGen ExAC gnomAD
CA354391367 rs1028095105	625	T>M		No	ClinGen TOPMed gnomAD
CA83320544 rs1028095105	625	T>R		No	ClinGen TOPMed gnomAD
CA354391481 rs138684820	630	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2596036 rs138684820 RCV000943240	630	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1362932926 CA354391495	630	A>V		No	ClinGen gnomAD
rs748740992 CA2596060	636	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2596061 rs768322698	636	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA354392549 rs1470695130	638	D>E		No	ClinGen TOPMed gnomAD
rs760989802 CA2596063	638	D>N		No	ClinGen ExAC gnomAD
CA354392552 rs1181663475	639	P>A		No	ClinGen gnomAD
rs771305186 CA2596064	640	S>L		No	ClinGen ExAC gnomAD
rs760117344 CA2596067	643	F>L		No	ClinGen ExAC gnomAD
CA354392595 rs1464232399	644	S>F		No	ClinGen gnomAD
CA83320878 rs780313878	647	V>M		No	ClinGen TOPMed
rs377424967 CA83320879	649	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA83320885 rs201684888	652	P>S		No	ClinGen Ensembl
rs958158657 CA83320899	653	I>M		No	ClinGen Ensembl
CA2596071 rs764263215	657	F>S		No	ClinGen ExAC gnomAD
CA354392797 rs1376877845	660	L>V		No	ClinGen gnomAD
rs757054802 CA2596073	661	C>Y		No	ClinGen ExAC gnomAD
rs781032342 CA354392825	662	V>L		No	ClinGen ExAC TOPMed gnomAD
CA2596074 rs781032342	662	V>M		No	ClinGen ExAC TOPMed gnomAD
CA83320928 rs913928170	663	V>L		No	ClinGen Ensembl
rs1438062371 COSM1670540 CA354392854	664	R>M	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA354392860 rs1209778420	665	D>N		No	ClinGen gnomAD
CA2596076 rs756055737	666	T>I		No	ClinGen ExAC gnomAD
rs2307311 RCV000843511 CA2596079 COSM149462 VAR_016138	667	V>M	stomach [Cosmic]	No	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA354392917 rs1476851939	669	P>T		No	ClinGen gnomAD
rs937425156 CA83320932	670	V>I		No	ClinGen TOPMed gnomAD
rs760568261	672	D>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs747547424 CA2596099	673	E>K		No	ClinGen ExAC TOPMed gnomAD
rs747547424 CA354393058	673	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs142652347 CA2596100	674	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs984026958 CA83321417	675	L>P		No	ClinGen Ensembl
CA83321421 rs1016595789	676	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
COSM4138410 CA354393109 rs1285837744	677	R>C	ovary [Cosmic]	No	ClinGen cosmic curated gnomAD
rs370006900 CA2596101	677	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1196876202 CA354393142	679	V>A		No	ClinGen gnomAD
rs776197114 CA354393139	679	V>L		No	ClinGen ExAC TOPMed gnomAD
rs776197114 CA2596104	679	V>M		No	ClinGen ExAC TOPMed gnomAD
CA354393167 rs1454876163	681	G>A		No	ClinGen gnomAD
rs1454876163 CA354393164	681	G>D		No	ClinGen gnomAD
CA354393159 rs1312402736	681	G>S		No	ClinGen gnomAD
rs201200738 CA2596107	684	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354393232 COSM727627 rs1443012813	686	H>L	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA83321439 rs11541852	686	H>Y		No	ClinGen TOPMed gnomAD
CA83321442 rs1017281399	687	H>P		No	ClinGen Ensembl
CA2596108 rs761748039	688	P>S		No	ClinGen ExAC gnomAD
CA354393259 rs1255893304	689	S>G		No	ClinGen Ensembl
CA2596110 rs776420074	690	N>K		No	ClinGen ExAC TOPMed gnomAD
CA2596111 rs150514271	691	K>E		No	ClinGen ESP TOPMed gnomAD
CA2596113 rs773395316	693	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1203379684 CA354393345	694	E>V		No	ClinGen TOPMed
CA83321489 rs868753768	697	A>T		No	ClinGen Ensembl
TCGA novel	697	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs139449344 CA2596115	698	N>S		No	ClinGen ESP ExAC gnomAD
CA2596116 rs577435798	699	G>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1308958893 CA354393423	700	S>R		No	ClinGen TOPMed gnomAD
CA2596117 rs754947595	701	A>T		No	ClinGen ExAC gnomAD
rs149699620 CA2596118	701	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1280598641 CA354393447	702	A>V		No	ClinGen gnomAD
rs1208071447 CA354393469	704	P>S		No	ClinGen gnomAD
CA354393475 rs1198310891	705	A>D		No	ClinGen gnomAD
CA354393473 rs147793264	705	A>P		No	ClinGen ESP TOPMed gnomAD
CA83321508 rs147793264	705	A>T		No	ClinGen ESP TOPMed gnomAD
rs777616908 CA2596121	706	M>I		No	ClinGen ExAC gnomAD
CA354393517 rs1417045950	709	T>M		No	ClinGen gnomAD
rs749555620 CA354393529	710	Y>*		No	ClinGen ExAC gnomAD
rs780565525 CA2596124	710	Y>C		No	ClinGen ExAC gnomAD
rs142890769 CA2596127	712	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA83321571 rs776529419	713	E>D		No	ClinGen TOPMed
rs201217644 CA2596128	714	P>L		No	ClinGen ExAC TOPMed gnomAD
CA354393559 rs1179846371	714	P>T		No	ClinGen TOPMed gnomAD
rs1576420359 CA354393605	718	E>G		No	ClinGen Ensembl
CA83321576 rs914148965	720	L>Q		No	ClinGen TOPMed
CA2596130 rs773485274	721	K>Q		No	ClinGen ExAC gnomAD
rs760882861 CA2596131	723	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA2596132 rs771074995	724	I>V		No	ClinGen ExAC gnomAD
VAR_016139 CA2596134 RCV000844361 rs2307313	727	A>T		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs761865471 CA2596136	730	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2596137 rs762581186	732	H>Y		No	ClinGen ExAC gnomAD
CA2596138 rs374686602	733	P>L		No	ClinGen ESP ExAC gnomAD
TCGA novel	734	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354393801 rs1417236442	736	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1185763947 CA354393870	740	Q>R		No	ClinGen gnomAD
rs1169358738 CA354393926	744	A>S		No	ClinGen gnomAD
CA354393942 rs1303131127	745	K>E		No	ClinGen TOPMed
rs376563084 CA83321636	745	K>R		No	ClinGen Ensembl
rs1403457564 CA354393973	746	M>I		No	ClinGen TOPMed
CA354393965 rs1370918842	746	M>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs772211286 CA2596146	755	M>T		No	ClinGen ExAC gnomAD
CA2596173 rs147917433	756	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA354395261 rs1265803386	760	I>V		No	ClinGen TOPMed
rs761460942 CA2596176	763	T>A		No	ClinGen ExAC gnomAD
CA2596177 rs757604548	763	T>M		No	ClinGen ExAC TOPMed gnomAD
CA354395339 rs1454315956	765	R>Q		No	ClinGen gnomAD
CA2596179 rs760252800	767	I>F		No	ClinGen ExAC TOPMed gnomAD
rs760252800 CA2596180	767	I>L		No	ClinGen ExAC TOPMed gnomAD
rs764627714 CA2596183	768	E>G		No	ClinGen ExAC gnomAD
CA2596184 rs752046802	769	S>C		No	ClinGen ExAC TOPMed gnomAD
CA354395399 rs752046802	769	S>F		No	ClinGen ExAC TOPMed gnomAD
rs745899021 CA2596187	770	M>I		No	ClinGen ExAC TOPMed gnomAD
CA2596186 rs781136151	770	M>T		No	ClinGen ExAC TOPMed gnomAD
CA2596185 rs757393611	770	M>V		No	ClinGen ExAC gnomAD
rs756308798 CA2596188	771	I>V		No	ClinGen ExAC gnomAD
rs372194428 CA2596190	772	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs774491481 CA354395475	774	A>E		No	ClinGen ExAC TOPMed gnomAD
rs774491481 CA2596192	774	A>V		No	ClinGen ExAC TOPMed gnomAD
rs748096774 CA2596193	776	A>S		No	ClinGen ExAC gnomAD
CA354395522 rs1164165278	777	H>Q		No	ClinGen gnomAD
rs1410723621 CA354395515	777	H>Y		No	ClinGen gnomAD
CA2596195 rs772611484 COSM1495387	778	A>T	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2596196 rs760184067	778	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs763364817 CA2596199	779	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2596200 rs201828053	779	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1378634885 CA354395551	780	I>M		No	ClinGen gnomAD
CA83322467 rs895101666	781	H>Y		No	ClinGen TOPMed
CA2596201 rs751854291	782	L>V		No	ClinGen ExAC TOPMed gnomAD
CA2596203 rs543054543 COSM1257462	783	R>Q	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
COSM1037918 rs757718055 CA2596202	783	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA354395619 rs1559868387	785	Y>C		No	ClinGen Ensembl
rs756185324 CA2596205	785	Y>H		No	ClinGen ExAC gnomAD
rs1235028296 CA354395655	788	E>K		No	ClinGen gnomAD
TCGA novel	789	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1693429 CA2596210 COSM78065 rs369079696	790	D>N	ovary Variant assessed as Somatic; 0.0 impact. skin [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA2596212 rs777726822	791	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1408501887 CA354395713	792	N>K		No	ClinGen gnomAD
CA83322499 rs779455252	792	N>S		No	ClinGen TOPMed gnomAD
CA2596213 rs200244254	793	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1168025291 CA354395718	793	M>V		No	ClinGen TOPMed gnomAD
rs375684929 CA2596214	794	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA354395735 rs375684929	794	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA83322502 rs768431409	796	R>C		No	ClinGen TOPMed gnomAD
CA83322505 rs776421182	796	R>H	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs776421182 CA354395754	796	R>P		No	ClinGen TOPMed gnomAD
rs376831247 CA2596215	797	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1293435998 CA354395774	798	M>I		No	ClinGen gnomAD
rs769458486 CA83322513	798	M>L		No	ClinGen Ensembl
CA2596217 rs769378160	800	E>K		No	ClinGen ExAC TOPMed gnomAD
CA2596218 rs774716672	803	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1275525348 CA354395825	803	I>V		No	ClinGen gnomAD
CA354395856 rs1210652155	806	Q>H		No	ClinGen TOPMed gnomAD
rs762194625 CA2596219	807	K>R		No	ClinGen ExAC TOPMed gnomAD
CA354395884 rs1465845785	810	V>A		No	ClinGen TOPMed
rs140928153 CA2596221	810	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA354395886 rs150230243	811	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA83322544 rs888786526	811	M>T		No	ClinGen gnomAD
CA2596223 rs150230243	811	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2596224 rs766565920	812	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2596225 rs185316647	812	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1430095286 CA354395907	813	S>G		No	ClinGen gnomAD
CA354395909 rs1172797486	813	S>N		No	ClinGen gnomAD
CA354395918 rs755267976	813	S>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1487871177 CA354395928	814	M>T		No	ClinGen gnomAD
CA354395939 rs1436576139	815	R>C		No	ClinGen TOPMed gnomAD
CA2596228 rs779228557	815	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2596227 rs779228557	815	R>L		No	ClinGen ExAC TOPMed gnomAD
CA2596230 rs777623799	816	K>R		No	ClinGen ExAC TOPMed gnomAD
CA83322804 rs1005867936	817	T>I		No	ClinGen Ensembl
CA2596258 rs1005867936	817	T>S		No	ClinGen Ensembl
rs1199309422 CA354396044	818	F>S		No	ClinGen TOPMed gnomAD
rs1469615875 CA354396040	818	F>V		No	ClinGen gnomAD
rs138865006 CA2596261	820	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA354396068 rs747287935	820	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2596262 rs747287935	820	R>L		No	ClinGen ExAC TOPMed gnomAD
rs138865006 CA354396064	820	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	824	F>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374590880 CA354396130	825	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374590880 COSM1418722 CA2596264	825	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
COSM3059251 rs771601773 COSM21720 CA2596263	825	R>W	Variant assessed as Somatic; 0.0 impact. pancreas skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2596265 rs567419651	826	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs201882833 CA2596266	826	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA2596267 rs368722217	827	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs764169595 CA2596270	829	N>D		No	ClinGen ExAC TOPMed gnomAD
CA2596271 rs751398280	829	N>S		No	ClinGen ExAC gnomAD
CA354396234 rs1341331598	833	L>H		No	ClinGen TOPMed
rs757014082 CA2596272	833	L>I		No	ClinGen ExAC gnomAD
CA2596273 rs548408307	835	I>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1231564577 CA354396273	836	L>R		No	ClinGen gnomAD
CA2596274 rs750345769	838	Q>*		No	ClinGen ExAC gnomAD
rs1576421668 CA354396354	842	E>G		No	ClinGen Ensembl
rs1576421678 CA354396386	844	V>G		No	ClinGen Ensembl
CA354396376 rs1576421676	844	V>M		No	ClinGen Ensembl
rs747444963 CA2596280	848	R>C		No	ClinGen ExAC gnomAD
rs137990158 CA2596281	848	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs137990158 CA83322906	848	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2596283 rs746374991	850	R>C		No	ClinGen ExAC TOPMed gnomAD
rs770365114 CA2596284	850	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1167669691 CA354396463	851	F>L		No	ClinGen gnomAD
CA83322912 rs977941193	854	Q>L		No	ClinGen TOPMed gnomAD
rs977941193 CA354396511	854	Q>R		No	ClinGen TOPMed gnomAD
TCGA novel	855	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1247854925 CA354396552	857	T>A		No	ClinGen gnomAD
rs140905579 CA2596286	857	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144122212 CA2596289	858	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2596288 rs552727863	858	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA354396593 rs1412298006	860	V>I		No	ClinGen gnomAD
CA354396610 rs1559868687	861	P>T		No	ClinGen Ensembl
rs546971936 CA83322948	864	D>Y		No	ClinGen 1000Genomes
rs753419974 CA2596294	867	D>H		No	ClinGen ExAC gnomAD
CA2596295 rs754419858	868	K>T		No	ClinGen ExAC TOPMed gnomAD
CA2596325 rs772313459	869	A>V		No	ClinGen ExAC gnomAD
rs773391587 RCV000992294 CA2596326	870	R>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs760570626 CA2596328	870	R>H		No	ClinGen ExAC gnomAD
rs760570626 CA2596327	870	R>P		No	ClinGen ExAC gnomAD
CA354397076 rs1576422025	875	H>Q		No	ClinGen Ensembl
CA2596329 rs776700956	876	N>S		No	ClinGen ExAC gnomAD
CA354397094 rs1209016189	877	L>F		No	ClinGen gnomAD
CA354397107 rs1576422039	879	A>T		No	ClinGen Ensembl
TCGA novel	880	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759400096 CA2596330	880	F>V		No	ClinGen ExAC gnomAD
CA354397143 rs1337923954	882	D>H		No	ClinGen TOPMed
CA354397206 rs1576422064	886	F>L		No	ClinGen Ensembl
CA354397195 rs1193301634	886	F>L		No	ClinGen gnomAD
CA354397238 rs1290321834	888	M>R		No	ClinGen TOPMed
TCGA novel	888	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765169547 CA2596331	889	N>S		No	ClinGen ExAC gnomAD
CA2596332 rs368010365	893	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs6794323 CA83323394	894	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763884333 CA2596334	894	D>H		No	ClinGen ExAC TOPMed gnomAD
CA354397333 rs763884333	894	D>N		No	ClinGen ExAC TOPMed gnomAD
CA2596336 rs756567878	895	L>P		No	ClinGen ExAC gnomAD
CA2596337 rs766655042	896	K>*		No	ClinGen ExAC gnomAD
rs904354165 CA83323422	897	R>T		No	ClinGen Ensembl
rs755463556 CA2596339	899	M>T		No	ClinGen ExAC gnomAD
rs1295128532 CA354397411	899	M>V		No	ClinGen gnomAD

1 associated diseases with P49736

[MIM: 616968]: Deafness, autosomal dominant, 70 (DFNA70)

A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA70 is characterized by slowly progressive, postlingual hearing impairment. {ECO:0000269|PubMed:26196677}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA70 is characterized by slowly progressive, postlingual hearing impairment. {ECO:0000269|PubMed:26196677}. Note=The disease is caused by variants affecting the gene represented in this entry.

5 regional properties for P49736

Type	Name	Position	InterPro Accession
domain	MCM domain	461 - 683	IPR001208
conserved_site	Mini-chromosome maintenance, conserved site	582 - 590	IPR018525
domain	MCM N-terminal domain	197 - 286	IPR027925
domain	MCM OB domain	294 - 420	IPR033762
domain	MCM, AAA-lid domain	718 - 802	IPR041562

Functions

		Description
EC Number	3.6.4.12	Acting on ATP; involved in cellular and subcellular movement
Subcellular Localization	Nucleus Chromosome	Associated with chromatin before the formation of nuclei and detaches from it as DNA replication progresses
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
chromosome, telomeric region	The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres).
CMG complex	A protein complex that contains the GINS complex, Cdc45p, and the heterohexameric MCM complex, and that is involved in unwinding DNA during replication.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
MCM complex	A hexameric protein complex required for the initiation and regulation of DNA replication.
nuclear origin of replication recognition complex	A multisubunit complex that is located at the replication origins of a chromosome in the nucleus.
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.

9 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
DNA helicase activity	Unwinding of a DNA helix, driven by ATP hydrolysis.
DNA replication origin binding	Binding to a DNA replication origin, a unique DNA sequence of a replicon at which DNA replication is initiated and proceeds bidirectionally or unidirectionally.
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
histone binding	Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription.
hydrolase activity	Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc.
metal ion binding	Binding to a metal ion.
single-stranded DNA binding	Binding to single-stranded DNA.

11 GO annotations of biological process

Name	Definition
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
cellular response to interleukin-4	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-4 stimulus.
cochlea development	The progression of the cochlea over time from its formation to the mature structure. The cochlea is the snail-shaped portion of the inner ear that is responsible for the detection of sound.
DNA replication	The cellular metabolic process in which a cell duplicates one or more molecules of DNA. DNA replication begins when specific sequences, known as origins of replication, are recognized and bound by initiation proteins, and ends when the original DNA molecule has been completely duplicated and the copies topologically separated. The unit of replication usually corresponds to the genome of the cell, an organelle, or a virus. The template for replication can either be an existing DNA molecule or RNA.
DNA replication initiation	The process in which DNA-dependent DNA replication is started; this begins with the ATP dependent loading of an initiator complex onto the DNA, this is followed by DNA melting and helicase activity. In bacteria, the gene products that enable the helicase activity are loaded after the initial melting and in archaea and eukaryotes, the gene products that enable the helicase activity are inactive when they are loaded and subsequently activate.
DNA unwinding involved in DNA replication	The process in which interchain hydrogen bonds between two strands of DNA are broken or 'melted', generating unpaired template strands for DNA replication.
double-strand break repair via break-induced replication	The error-free repair of a double-strand break in DNA in which the centromere-proximal end of a broken chromosome searches for a homologous region in an intact chromosome. DNA synthesis initiates from the 3' end of the invading DNA strand, using the intact chromosome as the template, and progresses to the end of the chromosome.
mitotic DNA replication initiation	Any DNA replication initiation involved in mitotic cell cycle DNA replication.
negative regulation of DNA helicase activity	Any process that stops, prevents or reduces the frequency, rate or extent of ATP-dependent DNA helicase activity.
nucleosome assembly	The aggregation, arrangement and bonding together of a nucleosome, the beadlike structural units of eukaryotic chromatin composed of histones and DNA.
regulation of DNA-templated DNA replication initiation	Any process that modulates the frequency, rate or extent of initiation of DNA-dependent DNA replication; the process in which DNA becomes competent to replicate. In eukaryotes, replication competence is established in early G1 and lost during the ensuing S phase.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q14566	MCM6	DNA replication licensing factor MCM6	Homo sapiens (Human)	PR
P33993	MCM7	DNA replication licensing factor MCM7	Homo sapiens (Human)	PR
P97310	Mcm2	DNA replication licensing factor MCM2	Mus musculus (Mouse)	PR
Q69QA6	MCM9	Probable DNA helicase MCM9	Oryza sativa subsp japonica (Rice)	PR
F4IFF3	MCM9	Probable DNA helicase MCM9	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MAESSESFTM	ASSPAQRRRG	NDPLTSSPGR	SSRRTDALTS	SPGRDLPPFE	DESEGLLGTE
70	80	90	100	110	120
GPLEEEEDGE	ELIGDGMERD	YRAIPELDAY	EAEGLALDDE	DVEELTASQR	EAAERAMRQR
130	140	150	160	170	180
DREAGRGLGR	MRRGLLYDSD	EEDEERPARK	RRQVERATED	GEEDEEMIES	IENLEDLKGH
190	200	210	220	230	240
SVREWVSMAG	PRLEIHHRFK	NFLRTHVDSH	GHNVFKERIS	DMCKENRESL	VVNYEDLAAR
250	260	270	280	290	300
EHVLAYFLPE	APAELLQIFD	EAALEVVLAM	YPKYDRITNH	IHVRISHLPL	VEELRSLRQL
310	320	330	340	350	360
HLNQLIRTSG	VVTSCTGVLP	QLSMVKYNCN	KCNFVLGPFC	QSQNQEVKPG	SCPECQSAGP
370	380	390	400	410	420
FEVNMEETIY	QNYQRIRIQE	SPGKVAAGRL	PRSKDAILLA	DLVDSCKPGD	EIELTGIYHN
430	440	450	460	470	480
NYDGSLNTAN	GFPVFATVIL	ANHVAKKDNK	VAVGELTDED	VKMITSLSKD	QQIGEKIFAS
490	500	510	520	530	540
IAPSIYGHED	IKRGLALALF	GGEPKNPGGK	HKVRGDINVL	LCGDPGTAKS	QFLKYIEKVS
550	560	570	580	590	600
SRAIFTTGQG	ASAVGLTAYV	QRHPVSREWT	LEAGALVLAD	RGVCLIDEFD	KMNDQDRTSI
610	620	630	640	650	660
HEAMEQQSIS	ISKAGIVTSL	QARCTVIAAA	NPIGGRYDPS	LTFSENVDLT	EPIISRFDIL
670	680	690	700	710	720
CVVRDTVDPV	QDEMLARFVV	GSHVRHHPSN	KEEEGLANGS	AAEPAMPNTY	GVEPLPQEVL
730	740	750	760	770	780
KKYIIYAKER	VHPKLNQMDQ	DKVAKMYSDL	RKESMATGSI	PITVRHIESM	IRMAEAHARI
790	800	810	820	830	840
HLRDYVIEDD	VNMAIRVMLE	SFIDTQKFSV	MRSMRKTFAR	YLSFRRDNNE	LLLFILKQLV
850	860	870	880	890	900
AEQVTYQRNR	FGAQQDTIEV	PEKDLVDKAR	QINIHNLSAF	YDSELFRMNK	FSHDLKRKMI

LQQF