AiPD: Autoinhibited Protein Database

Q5JRX3

Gene name	PITRM1
Protein name	Presequence protease, mitochondrial
Names	hPreP, Pitrilysin metalloproteinase 1, Metalloprotease 1, hMP1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10531
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

679-750 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

679-750 (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

9 structures for Q5JRX3

Entry ID	Method	Resolution	Chain	Position	Source
4L3T	X-ray	203 A	A/B	33-1037	PDB
4NGE	X-ray	270 A	A/D	33-1037	PDB
4RPU	X-ray	227 A	A/B	33-1037	PDB
6XOS	EM	370 A	A	33-1037	PDB
6XOT	EM	390 A	A	33-1037	PDB
6XOU	EM	400 A	A	33-1037	PDB
6XOV	EM	330 A	A	33-1037	PDB
6XOW	EM	460 A	A	33-1037	PDB
AF-Q5JRX3-F1	Predicted				AlphaFoldDB

1067 variants for Q5JRX3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_085987 rs1249144069 CA375876677	183	R>Q	SCAR30; decreased function in degradation of amyloid-beta protein 40; decreased metalloendopeptidase activity towards different substrates including an amyloid-beta peptide derivative; decreased protein levels in patient tissues; no effect on mitochondrial localization [UniProt]	Yes	ClinGen UniProt dbSNP gnomAD
CA351616 COSM3665704 RCV000207431 rs869025266	807	K>R	liver Irido-corneo-trabecular dysgenesis [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
CA5387204 rs187308159 VAR_085988	931	T>M	SCAR30; strongly decreased metalloendopeptidase activity towards amyloid-beta protein 40 and amyloid-beta protein 42 [UniProt]	Yes	ClinGen UniProt 1000Genomes TOPMed dbSNP gnomAD
rs1351743774 CA375877907	2	W>*		No	ClinGen gnomAD
rs1351743774 CA375877906	2	W>C		No	ClinGen gnomAD
rs756647224 CA5388389	3	R>C		No	ClinGen ExAC TOPMed gnomAD
rs756647224 CA375877904	3	R>G		No	ClinGen ExAC TOPMed gnomAD
rs750945997 CA5388388	3	R>H		No	ClinGen ExAC TOPMed gnomAD
rs750945997 CA375877901	3	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5388387 rs767862216	4	C>*		No	ClinGen ExAC TOPMed gnomAD
rs1196238405 CA375877897	4	C>R		No	ClinGen gnomAD
CA375877889 rs1261961126	5	G>D		No	ClinGen TOPMed gnomAD
CA201379607 rs546458455	5	G>S		No	ClinGen 1000Genomes
CA375877887 rs1261961126	5	G>V		No	ClinGen TOPMed gnomAD
CA375877881 rs1484695817	6	G>E		No	ClinGen gnomAD
rs371454397 CA375877875	7	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs759173740 CA5388383	7	R>P		No	ClinGen ExAC TOPMed gnomAD
CA375877874 rs759173740	7	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs371454397 CA5388384	7	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs767762515 CA375877869	8	Q>*		No	ClinGen TOPMed gnomAD
rs767762515 CA375877870	8	Q>E		No	ClinGen TOPMed gnomAD
rs1311428601 CA375877866	8	Q>H		No	ClinGen TOPMed
rs767762515 CA201379555	8	Q>K		No	ClinGen TOPMed gnomAD
CA375877868 rs11818724	8	Q>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5388382 rs11818724	8	Q>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_027517 rs11818724 CA5388381	8	Q>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA201379524 rs199766052	9	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1326871714 CA375877862	9	G>C		No	ClinGen TOPMed gnomAD
CA5388380 rs199766052	9	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1326871714 CA375877864	9	G>R		No	ClinGen TOPMed gnomAD
CA375877863 rs1326871714	9	G>S		No	ClinGen TOPMed gnomAD
CA5388379 rs199766052	9	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA201379512 rs572092794	10	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375877858 rs1235395426	10	L>P		No	ClinGen TOPMed
CA375877860 rs572092794	10	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774266879 CA375877854	11	C>R		No	ClinGen ExAC TOPMed gnomAD
rs774266879 CA5388376	11	C>S		No	ClinGen ExAC TOPMed gnomAD
CA201379477 rs555370888	11	C>W		No	ClinGen 1000Genomes
CA375877837 rs1436995657	13	L>P		No	ClinGen TOPMed
rs1436995657 CA375877838	13	L>Q		No	ClinGen TOPMed
rs1174327613 CA375877832	14	R>G		No	ClinGen TOPMed
rs780357039 CA5388373	14	R>K		No	ClinGen ExAC gnomAD
rs1006874320 CA201379467	15	R>P		No	ClinGen TOPMed
rs1372927594 CA375877823	15	R>W		No	ClinGen TOPMed gnomAD
CA375877800 rs1236224161	18	G>C		No	ClinGen TOPMed
CA375877799 rs1236224161	18	G>R		No	ClinGen TOPMed
rs1236224161 CA375877798	18	G>S		No	ClinGen TOPMed
CA201379439 rs891666809	19	G>E		No	ClinGen Ensembl
CA201379443 rs945946633	19	G>R		No	ClinGen gnomAD
rs778190890 CA5388348	22	H>D		No	ClinGen ExAC gnomAD
CA201377045 rs539324065	22	H>Q		No	ClinGen Ensembl
rs183421621 CA5388347	25	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5388346 rs753024095	25	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs755702725 CA5388344	26	W>C		No	ClinGen ExAC gnomAD
CA201377001 rs886247704	27	R>*		No	ClinGen TOPMed gnomAD
rs750009391 CA5388343	27	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5388341 rs200165191	29	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1564442423 CA375877711	30	S>T		No	ClinGen Ensembl
rs115564496 CA375877696	32	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs115564496 CA5388338	32	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764082423 CA5388339	32	R>W		No	ClinGen ExAC gnomAD
rs77718778 CA375877695	33	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs77718778 CA5388337	33	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370074561 CA5388336	33	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA201376934 rs77781053	34	C>S		No	ClinGen Ensembl
CA375877646 rs1252917653	40	Y>C		No	ClinGen gnomAD
TCGA novel	42	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747039442 CA5388332	44	D>E		No	ClinGen ExAC
CA5388333 rs371671282	44	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA375877621 rs1309801103	44	D>H		No	ClinGen gnomAD
rs1375883685 CA375877616	45	K>E		No	ClinGen TOPMed
CA201376909 rs1057244350 CA375877611	45	K>N		No	ClinGen TOPMed gnomAD
rs377628118 CA201376901	46	I>V		No	ClinGen Ensembl
rs778286988 CA5388331	47	H>D		No	ClinGen ExAC gnomAD
rs778286988 CA375877604	47	H>N		No	ClinGen ExAC gnomAD
rs143156932 CA5388330	47	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5388328 rs779135899	48	G>R		No	ClinGen ExAC gnomAD
rs755864464 CA5388327	48	G>V		No	ClinGen ExAC gnomAD
rs566012447 CA5388326	49	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs537472379 CA5388324	51	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1212084550 CA375877540	55	T>I		No	ClinGen TOPMed gnomAD
rs1255099923 CA375877529	57	V>F		No	ClinGen gnomAD
rs756947486 CA5388305	58	P>S		No	ClinGen ExAC TOPMed gnomAD
rs777416857 COSM917734 CA5388303	59	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA5388300 rs373716939	63	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5388298 rs531160190	64	A>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	65	V>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375877472 rs1487225912	66	K>N		No	ClinGen gnomAD
rs1420678258 CA375877455	69	H>R		No	ClinGen gnomAD
rs1456074594 CA375877459	69	H>Y		No	ClinGen gnomAD
rs1189065769 CA375877438	71	D>G		No	ClinGen gnomAD
rs759319474 CA201374111	72	T>A		No	ClinGen gnomAD
CA201374104 rs984568886	72	T>R		No	ClinGen Ensembl
rs370047766 CA5388296	73	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA201374083 rs542123766	75	R>T		No	ClinGen Ensembl
rs1326933077 CA375877411	76	Y>D		No	ClinGen gnomAD
CA5388291 rs769167928	78	H>Q		No	ClinGen ExAC gnomAD
rs774744469 CA5388292	78	H>R		No	ClinGen ExAC gnomAD
CA5388293 rs562249390	78	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375877379 rs1310322714	81	R>T		No	ClinGen gnomAD
TCGA novel	82	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749662115 CA5388290	83	D>G		No	ClinGen ExAC TOPMed gnomAD
CA5388288 rs545460769	84	T>M		No	ClinGen 1000Genomes ExAC gnomAD
CA375877355 rs1564436022	85	N>H		No	ClinGen Ensembl
CA375877343 rs1397284903	86	N>S		No	ClinGen gnomAD
rs1246995217 CA375877339	87	L>M		No	ClinGen TOPMed
CA375877333 rs1461239983	88	F>L		No	ClinGen gnomAD
rs747650930 CA5388284	89	S>G		No	ClinGen ExAC TOPMed gnomAD
CA375877309 rs369920121	89	S>R		No	ClinGen ESP TOPMed
rs559025200 CA5388256	90	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1554801909 CA918588956	91	Q>A		No	ClinGen Ensembl
CA5388252 rs1554801891	91	Q>P		No	ClinGen ExAC
CA201373304 rs4266975	91	Q>P		No	ClinGen Ensembl
CA5388253 rs1554801883	91	Q>P		No	ClinGen ExAC TOPMed
CA5388254 rs1554801875	91	Q>PFLSLP*		No	ClinGen ExAC
CA5388249 rs771721809	92	F>L		No	ClinGen ExAC TOPMed gnomAD
rs747664003 CA5388248	93	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5388247 rs200158878	93	R>H		No	ClinGen ExAC TOPMed gnomAD
CA201373260 rs200158878	93	R>L		No	ClinGen ExAC TOPMed gnomAD
CA375877279 rs1304207141	95	T>A		No	ClinGen gnomAD
rs573300739 CA5388245	95	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779910056 CA5388244	96	P>L		No	ClinGen ExAC gnomAD
rs755925150 CA5388243	97	M>V		No	ClinGen ExAC gnomAD
CA375877253 rs1392333027	99	S>G		No	ClinGen gnomAD
CA375877234 rs1200005767	102	V>I		No	ClinGen TOPMed gnomAD
rs781434849 CA5388241	103	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5388242 rs371462995	103	P>S		No	ClinGen ESP ExAC gnomAD
rs757486951 CA5388240	105	I>V		No	ClinGen ExAC gnomAD
rs914906564 CA201373220	106	L>F		No	ClinGen Ensembl
rs762882698 COSM269891 CA5388237	110	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA375877176 rs1219421377	111	L>F		No	ClinGen TOPMed gnomAD
rs376504978 CA375877166	112	C>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs536452915 CA5388236	112	C>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760016737 CA5388234	113	G>R		No	ClinGen ExAC TOPMed gnomAD
rs771682578 CA5388232	118	P>L		No	ClinGen ExAC TOPMed gnomAD
CA201373177 rs865990928	118	P>S		No	ClinGen Ensembl
CA5388230 rs773811640	120	R>T		No	ClinGen ExAC TOPMed gnomAD
CA201373152 rs975433124	121	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5388229 rs567483844	121	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs367978231 CA5388228	122	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA5388227 rs775439065	123	F>C		No	ClinGen ExAC gnomAD
rs751907233 CA5388226	123	F>L		No	ClinGen ExAC gnomAD
CA375877075 rs1286790624	126	M>T		No	ClinGen TOPMed gnomAD
rs745719990 CA5388225	127	L>W		No	ClinGen ExAC gnomAD
CA375877060 rs1356940693	128	N>S		No	ClinGen gnomAD
rs747267213 CA5388222	129	R>Q		No	ClinGen ExAC gnomAD
rs756935545 CA5388223	129	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1159801661 CA375877049	130	S>C		No	ClinGen gnomAD
rs758532512 CA5388220	131	L>F		No	ClinGen ExAC gnomAD
rs752791286 CA5388219	131	L>P		No	ClinGen ExAC gnomAD
rs758532512 CA5388221	131	L>V		No	ClinGen ExAC gnomAD
CA375877040 rs1179728054	132	S>C		No	ClinGen gnomAD
CA5388217 rs755532253	133	T>A		No	ClinGen ExAC gnomAD
rs754324281 CA5388216	133	T>M		No	ClinGen ExAC gnomAD
CA5388214 rs760895144	134	F>S		No	ClinGen ExAC TOPMed gnomAD
CA375877026 rs1257965157	135	M>V		No	ClinGen TOPMed
rs1329052806 CA375877008	137	A>T		No	ClinGen gnomAD
rs1248173950 CA375877003	138	F>L		No	ClinGen TOPMed
rs1014941321 CA201372536	140	A>V		No	ClinGen gnomAD
CA201372532 rs748298462	141	S>C		No	ClinGen ExAC TOPMed gnomAD
rs748298462 CA5388201	141	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1317977569 CA375876972	141	S>N		No	ClinGen gnomAD
rs1403595601 CA375876955	143	Y>C		No	ClinGen TOPMed
rs9423502 CA5388199 VAR_027518	145	L>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5388197 rs766748665	146	Y>H		No	ClinGen ExAC gnomAD
CA201372473 rs573840518	148	F>I		No	ClinGen 1000Genomes TOPMed gnomAD
rs1169527721 CA375876919	149	S>A		No	ClinGen gnomAD
rs759120225 CA201372458	151	Q>R		No	ClinGen Ensembl
rs937518685 CA201372452	154	K>R		No	ClinGen gnomAD
rs1195612371 CA375876877	155	D>V		No	ClinGen gnomAD
CA201372450 rs1047092537	155	D>Y		No	ClinGen TOPMed
rs750724036 CA5388194	161	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs763857290 CA5388193	162	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1219788240 CA375876831	162	V>L		No	ClinGen gnomAD
CA375876828 rs1220134691	163	Y>N		No	ClinGen TOPMed
rs1588712993 CA375876804	166	A>T		No	ClinGen Ensembl
COSM3375456 COSM3375455 rs373711451 CA5388189 COSM3375457	168	F>L	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
VAR_027519 rs3814596 CA5388188	169	F>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	169	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs3814596 CA375876782	169	F>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375876772 rs1477705873	171	C>R		No	ClinGen TOPMed gnomAD
rs1274252420 CA375876763	172	L>*		No	ClinGen gnomAD
COSM258671 CA5388186 rs770738350	173	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs760564399 CA5388185	173	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA375876753 rs772491649	174	E>*		No	ClinGen ExAC TOPMed gnomAD
COSM917731 CA5388183 rs772491649	174	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs373176191 CA5388182	175	L>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs576962834 CA201372299	183	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5388163 rs576962834	183	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1183180226 CA375876670	184	L>R		No	ClinGen gnomAD
rs1588712444 CA375876665	185	E>G		No	ClinGen Ensembl
CA375876656 rs1483375893	186	H>L		No	ClinGen gnomAD
CA5388162 rs373004876	189	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	189	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	190	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375876619 rs1415301748	191	D>E		No	ClinGen TOPMed
CA5388160 rs749436565	191	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5388159 rs779987207	191	D>V		No	ClinGen ExAC gnomAD
rs746374213 CA5388157	192	P>L		No	ClinGen ExAC gnomAD
rs535299514 CA5388158	192	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA375876608 rs1396757197	193	Q>H		No	ClinGen gnomAD
CA5388156 rs201270190	194	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA5388154 rs751886851	195	P>S		No	ClinGen ExAC TOPMed gnomAD
rs751886851 CA375876600	195	P>T		No	ClinGen ExAC TOPMed gnomAD
CA375876580 rs878979743	198	F>C		No	ClinGen TOPMed
CA201372209 rs878979743	198	F>S		No	ClinGen TOPMed
rs1456122892 CA375876560	201	V>F		No	ClinGen gnomAD
rs753452674 CA5388151	202	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1412684605 CA375876543	204	N>H		No	ClinGen TOPMed gnomAD
CA375876529 rs1564432228	205	E>D		No	ClinGen Ensembl
CA375876526 rs371335572	206	M>L		No	ClinGen ExAC gnomAD
CA5388150 rs371335572	206	M>V		No	ClinGen ExAC gnomAD
CA375876501 rs144796240	209	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5388149 rs144796240	209	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs748908944 CA5388127	211	T>A		No	ClinGen ExAC TOPMed gnomAD
rs779711160 CA5388126	211	T>I		No	ClinGen ExAC gnomAD
rs933692625 CA201371020	212	D>G		No	ClinGen Ensembl
CA5388125 rs755615194	213	N>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA201370986 rs922287312	213	N>S		No	ClinGen Ensembl
CA375876428 rs1484405353	218	S>F		No	ClinGen gnomAD
rs1167376814 CA375876425	219	Q>*		No	ClinGen gnomAD
CA375876420 TCGA novel rs1427334660	219	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
rs1379281226 CA375876413	220	H>Q		No	ClinGen gnomAD
TCGA novel	224	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1216373353 CA375876380	225	L>F		No	ClinGen TOPMed
COSM3790750 COSM3790749 COSM3790751 rs757249239 CA5388121	226	L>F	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA5388120 rs751468958	226	L>P		No	ClinGen ExAC gnomAD
CA5388119 rs763808002	227	P>L		No	ClinGen ExAC gnomAD
rs759579925 CA5388115	228	D>A		No	ClinGen ExAC gnomAD
CA375876365 rs759579925	228	D>G		No	ClinGen ExAC gnomAD
rs765466941 CA5388116	228	D>N		No	ClinGen ExAC TOPMed gnomAD
rs200446212 CA5388114	230	T>M		No	ClinGen ExAC TOPMed gnomAD
CA201370899 rs968232643	233	V>A		No	ClinGen Ensembl
CA5388112 rs375511163	233	V>L		No	ClinGen ESP ExAC gnomAD
rs375511163 CA375876334	233	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA5388111 rs202132062	234	V>F		No	ClinGen ExAC TOPMed gnomAD
CA375876326 rs1329893026	234	V>G		No	ClinGen gnomAD
rs779617058 CA5388108	236	G>E		No	ClinGen ExAC gnomAD
rs748509240 CA375876319 CA5388109	236	G>R		No	ClinGen ExAC TOPMed gnomAD
CA201370858 rs779617058	236	G>V		No	ClinGen ExAC gnomAD
CA5388107 rs372357030	237	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA375876306 rs1172685273	238	D>A		No	ClinGen gnomAD
CA375876309 rs1403632973	238	D>Y		No	ClinGen gnomAD
rs780847200 CA5388104	239	P>R		No	ClinGen ExAC gnomAD
TCGA novel	239	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5388103 rs756763243	240	L>R		No	ClinGen ExAC TOPMed gnomAD
CA375876290 rs1419486730	241	C>Y		No	ClinGen TOPMed
rs777724697 CA5388100	243	P>A		No	ClinGen ExAC gnomAD
CA5388099 rs758167571	243	P>L		No	ClinGen ExAC TOPMed gnomAD
rs758167571 CA375876276	243	P>R		No	ClinGen ExAC TOPMed gnomAD
CA375876262 rs1343470886	245	L>R		No	ClinGen gnomAD
CA375876256 rs1374145187	246	T>I		No	ClinGen TOPMed
TCGA novel	246	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375876252 rs1442027239	247	W>*		No	ClinGen Ensembl
rs1328841632 CA375876245	248	E>K		No	ClinGen gnomAD
CA375876238 rs1286850020	249	Q>E		No	ClinGen gnomAD
CA375876229 rs1439517113	250	L>V		No	ClinGen gnomAD
CA5388094 rs766457751	251	K>Q		No	ClinGen ExAC gnomAD
CA5388093 rs542423986	252	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs542423986 CA5388092	252	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	254	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5388090 rs1288091760	254	H>R		No	ClinGen TOPMed
COSM1645595 CA375876201 rs1394986704 COSM415049	254	H>Y	urinary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
CA5388089 rs772604490	256	T>A		No	ClinGen ExAC gnomAD
rs1351324182 CA375876187	256	T>N		No	ClinGen TOPMed
rs762134368 CA5388088	257	H>R		No	ClinGen ExAC gnomAD
rs1457707018 CA375876177	258	Y>H		No	ClinGen TOPMed gnomAD
CA375876149 rs1292168636	261	S>R		No	ClinGen TOPMed
CA375876144 rs1453021731	262	N>S		No	ClinGen TOPMed
rs760784650 CA201367684	264	R>S		No	ClinGen ExAC gnomAD
rs767970831 CA5388069	267	T>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	268	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1442467139 CA375876086	269	G>C		No	ClinGen TOPMed
COSM3414981 rs1442467139 CA375876088 COSM3414980 COSM3414979	269	G>S	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1408646329 CA375876052	274	E>K		No	ClinGen TOPMed
CA5388065 rs201311080	275	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA5388064 rs776460038	275	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA375876025 rs1588696703	277	L>R		No	ClinGen Ensembl
CA375876023 rs1322680197	278	K>E		No	ClinGen gnomAD
CA375876012 rs1265549601	279	Q>R		No	ClinGen gnomAD
rs1422935311 CA375876004	280	I>T		No	ClinGen gnomAD
rs373319508 CA5388062	282	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA5388063 rs770681990	282	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1588696612 CA375875983	283	E>G		No	ClinGen Ensembl
rs1207563271 CA375875974	284	A>V		No	ClinGen TOPMed
CA5388059 rs748128904	285	L>V		No	ClinGen ExAC gnomAD
rs1197750885 CA375875944	289	Q>K		No	ClinGen gnomAD
CA5388057 rs754799895	290	K>N		No	ClinGen ExAC gnomAD
rs749053374 CA5388056	291	I>M		No	ClinGen ExAC gnomAD
rs1276391416 CA375875927	291	I>T		No	ClinGen gnomAD
CA375875907 rs1340763714	294	S>N		No	ClinGen gnomAD
rs779570895 CA375875896 CA375875895	296	V>L		No	ClinGen ExAC TOPMed gnomAD
rs779570895 CA5388054	296	V>M		No	ClinGen ExAC TOPMed gnomAD
COSM223381 rs1273999407 CA375875879	299	A>T	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1402924854 CA375875874	299	A>V		No	ClinGen gnomAD
CA375875871 rs1400366474	300	Q>*		No	ClinGen gnomAD
CA5388052 rs767642677	301	T>I		No	ClinGen ExAC gnomAD
rs373452191 CA5388050	302	P>L		No	ClinGen ESP ExAC gnomAD
rs528433422 CA5388051	302	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs528433422 CA201367682	302	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375875848 rs1178349105	304	D>N		No	ClinGen gnomAD
CA375875839 rs1415505065	305	K>E		No	ClinGen gnomAD
CA375875830 rs1425130352	306	P>S		No	ClinGen TOPMed gnomAD
CA375875814 rs1269068832	307	R>W		No	ClinGen TOPMed
CA201367653 rs752449866	308	E>A		No	ClinGen Ensembl
rs745616548 CA5388016	308	E>D		No	ClinGen ExAC
rs781522562 CA5388015	309	F>L		No	ClinGen ExAC gnomAD
CA375875797 CA5388014 rs771041044	309	F>L		No	ClinGen ExAC TOPMed gnomAD
CA5388012 rs778005054	310	Q>*		No	ClinGen ExAC gnomAD
CA5388013 rs778005054	310	Q>K		No	ClinGen ExAC gnomAD
rs758492859 CA5388011	311	I>M		No	ClinGen ExAC gnomAD
rs372262012 CA5388007	313	C>F		No	ClinGen ESP ExAC TOPMed
CA5388008 rs755413136	313	C>R		No	ClinGen ExAC gnomAD
CA5388004 COSM1560805 rs761367964	315	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs767258484 CA5388005	315	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1458781766 CA375875756	316	D>E		No	ClinGen TOPMed
rs751150417 CA5388003	317	S>L		No	ClinGen ExAC TOPMed gnomAD
rs764506870 CA201367652	318	F>S		No	ClinGen Ensembl
rs775440773 CA5388000	320	T>A		No	ClinGen ExAC gnomAD
CA5387999 rs769594126	320	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1204315660 CA375875727	321	D>V		No	ClinGen gnomAD
COSM251080 rs1386414900 CA375875730	321	D>Y	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
rs759430379 CA5387998	325	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA201367651 rs371676286	326	T>P		No	ClinGen Ensembl
CA375875690 rs1289647252	327	T>A		No	ClinGen gnomAD
rs770689506 CA5387996	327	T>I		No	ClinGen ExAC TOPMed gnomAD
CA5387994 rs4242746	328	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_027520 CA5387993 rs4242746	328	I>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1370111739 CA375875678	329	S>N		No	ClinGen gnomAD
rs202233012 CA375875672	330	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA5387991 COSM1347604 rs202233012	330	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA375875661 rs755428738	331	S>R		No	ClinGen ExAC gnomAD
CA375875655 rs1431163177	332	F>L		No	ClinGen gnomAD
rs754296859 CA5387989	332	F>S		No	ClinGen ExAC gnomAD
rs780287657 CA5387988	333	L>R		No	ClinGen ExAC gnomAD
rs775529144 CA5387986	335	P>L		No	ClinGen ExAC TOPMed gnomAD
CA375875637 rs775529144	335	P>R		No	ClinGen ExAC TOPMed gnomAD
CA201367649 rs1038852072	336	D>N		No	ClinGen TOPMed
CA375875615 rs1327581200	337	I>V		No	ClinGen gnomAD
TCGA novel	339	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375875602 rs1404264354	339	D>H		No	ClinGen gnomAD
CA375875603 rs1404264354	339	D>N		No	ClinGen gnomAD
CA375875582 rs1564420573	341	F>L		No	ClinGen Ensembl
rs773129612 CA5387951	342	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA375875569 rs1469243568	343	A>V		No	ClinGen gnomAD
CA375875555 rs1255800816	345	T>I		No	ClinGen gnomAD
rs774576261 CA5387948	347	S>N		No	ClinGen ExAC gnomAD
TCGA novel	348	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768643420 CA5387947	352	L>P		No	ClinGen ExAC gnomAD
CA201367550 rs774545666	354	T>I		No	ClinGen gnomAD
CA5387945 RCV000972808 rs34854792	355	S>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA375875496 COSM3356108 rs34854792 COSM3356107 COSM3356106	355	S>F	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA375875490 rs1270383691	356	G>V		No	ClinGen gnomAD
rs373184654 CA5387944	358	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA375875462 rs1236438229	361	F>V		No	ClinGen gnomAD
rs746296144 CA375875440	364	A>P		No	ClinGen ExAC TOPMed gnomAD
rs746296144 CA5387943	364	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1315167219 CA375875429	365	L>F		No	ClinGen gnomAD
CA375875422 rs1451778452	366	I>M		No	ClinGen gnomAD
CA375875411 rs1588692168	368	S>A		No	ClinGen Ensembl
rs200082240 CA5387942	369	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs549015850 CA5387941	370	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs549015850 CA375875402	370	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5387940 rs747777908	371	G>V		No	ClinGen ExAC gnomAD
rs375131093 CA5387939	372	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	373	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000960160 rs202029537 CA5387938	373	D>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA375875380 rs1564420234	374	F>I		No	ClinGen Ensembl
rs914784387 CA201367549	374	F>S		No	ClinGen TOPMed gnomAD
rs1183094957 CA375875366	376	P>A		No	ClinGen gnomAD
CA5387935 rs756117792	377	D>E		No	ClinGen ExAC gnomAD
CA5387937 rs753364959	377	D>G		No	ClinGen ExAC gnomAD
rs1588692076 CA375875360	377	D>N		No	ClinGen Ensembl
CA5387934 rs750319721	378	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1189611999 CA375875355	378	V>I		No	ClinGen gnomAD
CA375875347 rs1274736354	379	G>E		No	ClinGen TOPMed
rs757046227 CA5387915	380	Y>C		No	ClinGen ExAC gnomAD
rs781238525 CA5387916	380	Y>N		No	ClinGen ExAC gnomAD
CA375875323 rs1240875299	381	N>D		No	ClinGen TOPMed
CA5387913 rs764286077	383	Y>*		No	ClinGen ExAC gnomAD
CA375875303 rs1268163928	384	T>A		No	ClinGen gnomAD
rs570866037 CA5387912	384	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	386	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1588689692 CA375875288	386	E>G		No	ClinGen Ensembl
rs868704329 CA375875282	387	A>G		No	ClinGen Ensembl
rs765319643 CA5387910	387	A>P		No	ClinGen ExAC gnomAD
rs868704329 CA201362658	387	A>V		No	ClinGen Ensembl
rs148978046 CA5387908	388	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1588689648 CA375875279	388	Y>H		No	ClinGen Ensembl
rs375630656 CA5387907	389	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA375875258 rs1174662609	391	V>I		No	ClinGen gnomAD
CA5387904 rs772260917	392	G>C		No	ClinGen ExAC TOPMed gnomAD
rs772260917 CA5387905	392	G>S		No	ClinGen ExAC TOPMed gnomAD
CA5387902 rs779804545	393	L>P		No	ClinGen ExAC TOPMed gnomAD
CA5387901 rs769463432	394	Q>*		No	ClinGen ExAC gnomAD
rs1204653208 CA375875240	394	Q>R		No	ClinGen gnomAD
rs781329886 CA5387899	395	G>R		No	ClinGen ExAC gnomAD
rs757208950 CA5387898	396	I>T		No	ClinGen ExAC gnomAD
CA5387897 VAR_027521 rs3182535	397	A>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1221871571 CA375875216	398	E>G		No	ClinGen gnomAD
rs777634869 CA5387896	399	K>N		No	ClinGen ExAC gnomAD
rs765413663 CA5387894	401	I>S		No	ClinGen ExAC gnomAD
CA5387893 rs765413663	401	I>T		No	ClinGen ExAC gnomAD
rs758075744 CA5387895	401	I>V		No	ClinGen ExAC gnomAD
CA5387892 rs759660559	403	T>S		No	ClinGen ExAC TOPMed gnomAD
rs773535745 CA5387889	404	V>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5387888 rs773535745	404	V>I		No	ClinGen ExAC TOPMed gnomAD
CA375875174 rs1375363573	405	R>K		No	ClinGen gnomAD
TCGA novel	406	S>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5387887 rs767947638	406	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1162628616 CA375875155	408	I>V		No	ClinGen TOPMed
CA5387886 rs138864546	409	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5387885 rs138864546 RCV000913459	409	D>Y		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5387883 rs745432011	411	T>K		No	ClinGen ExAC TOPMed gnomAD
CA5387882 rs745432011	411	T>M		No	ClinGen ExAC TOPMed gnomAD
CA375875128 rs1230696865	412	I>T		No	ClinGen gnomAD
CA5387880 rs770286526	413	D>N		No	ClinGen ExAC gnomAD
TCGA novel	413	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5387879 rs746984844	414	E>D		No	ClinGen ExAC TOPMed gnomAD
CA201362474 rs1046030719	414	E>G		No	ClinGen TOPMed gnomAD
rs1201590369 CA375875111	415	V>L		No	ClinGen gnomAD
TCGA novel	417	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777529772 CA5387878	417	E>Q		No	ClinGen ExAC gnomAD
CA5387859 rs561396436	419	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs778683329 CA5387858	421	E>G		No	ClinGen ExAC gnomAD
rs1424822902 CA375875039	423	D>E		No	ClinGen gnomAD
CA375875044 rs1164922922	423	D>N		No	ClinGen gnomAD
CA5387857 rs372933711	424	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA375875035 rs115840214	424	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000972268 CA5387856 COSM3414974 COSM3414973 COSM3414975 rs115840214	424	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs780100902 CA5387855	425	I>T		No	ClinGen ExAC TOPMed gnomAD
rs910958872 CA375875019	427	A>S		No	ClinGen Ensembl
rs910958872 CA201361667	427	A>T		No	ClinGen Ensembl
rs1485001114 CA375874999	430	H>R		No	ClinGen gnomAD
rs1185751600 CA375875000	430	H>Y		No	ClinGen gnomAD
CA375874982 rs1271389439	432	I>T		No	ClinGen gnomAD
CA5387853 rs750451346	433	E>K		No	ClinGen ExAC gnomAD
CA375874968 rs1205048159	434	I>T		No	ClinGen TOPMed
CA375874964 rs1358749633	435	Q>*		No	ClinGen gnomAD
CA375874965 rs1358749633	435	Q>E		No	ClinGen gnomAD
CA5387852 rs768129783	436	M>V		No	ClinGen ExAC gnomAD
rs757839876 CA5387851	438	H>R		No	ClinGen ExAC TOPMed gnomAD
CA375874920 rs968409640	441	T>A		No	ClinGen gnomAD
CA201361647 rs968409640	441	T>P		No	ClinGen gnomAD
rs765554466 CA5387849	442	S>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	443	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1337961861 CA375874900	444	G>R		No	ClinGen gnomAD
CA5387848 rs373011861	446	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs753564218 CA5387846	449	S>A		No	ClinGen ExAC gnomAD
TCGA novel	449	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375874870 rs753564218	449	S>T		No	ClinGen ExAC gnomAD
rs745366270 CA201361250	451	I>M		No	ClinGen Ensembl
rs368922913 CA5387827	451	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	452	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1392777266 CA375874786	453	S>T		No	ClinGen TOPMed
rs1384930729 CA375874773	455	W>R		No	ClinGen TOPMed
TCGA novel	458	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5387826 rs750034018	458	D>H		No	ClinGen ExAC TOPMed gnomAD
CA201361221 rs1020668146	458	D>V		No	ClinGen TOPMed
rs767038390 CA5387825	460	D>H		No	ClinGen ExAC gnomAD
CA5387823 rs774314745	461	P>A		No	ClinGen ExAC gnomAD
CA5387824 rs774314745	461	P>S		No	ClinGen ExAC gnomAD
rs768560360 CA375874712	463	E>D		No	ClinGen ExAC gnomAD
TCGA novel	463	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375874701 rs1375584610	465	L>W		No	ClinGen TOPMed
rs376514617 CA201361188	469	N>D		No	ClinGen ESP TOPMed
TCGA novel	469	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5387821 rs762867715	474	F>L		No	ClinGen ExAC gnomAD
CA375874623 rs1354867410	476	Q>R		No	ClinGen TOPMed
rs1469162664 CA375874610	478	L>V		No	ClinGen gnomAD
rs769570432 CA5387819	479	Q>R		No	ClinGen ExAC gnomAD
rs746096088 CA5387818	480	E>Q		No	ClinGen ExAC gnomAD
rs146514704 CA201361133	481	N>D		No	ClinGen 1000Genomes
TCGA novel	481	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771170704 CA5387817	482	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA5387816 rs771170704	482	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1363258420 CA375874559	485	L>F		No	ClinGen gnomAD
rs747059744 CA5387815	486	Q>*		No	ClinGen ExAC gnomAD
rs1446951775 CA375874556	486	Q>P		No	ClinGen TOPMed gnomAD
rs866087325 CA201361112	487	E>K		No	ClinGen gnomAD
rs891045151 CA201361105	487	E>V		No	ClinGen TOPMed
CA375874534 rs1206488646	489	V>E		No	ClinGen gnomAD
CA375874537 rs1286796431	489	V>I		No	ClinGen gnomAD
CA201361066 rs372192780	490	K>E		No	ClinGen ESP TOPMed gnomAD
CA5387812 rs753180899	491	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1433438220 CA375874477	495	N>S		No	ClinGen TOPMed
CA375874465 rs1447203875	497	Q>E		No	ClinGen gnomAD
CA375874459 rs1375464261	497	Q>H		No	ClinGen TOPMed
rs903840571 CA201359844	499	K>E		No	ClinGen TOPMed
CA201359832 rs1013040620	499	K>N		No	ClinGen Ensembl
rs73579025 CA5387804	501	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775443648 CA5387803	503	S>L		No	ClinGen ExAC TOPMed gnomAD
rs759340392 CA5387801	504	M>V		No	ClinGen ExAC TOPMed gnomAD
rs777040307 CA5387800	507	D>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	508	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1051238448 CA375874379	509	K>N		No	ClinGen TOPMed gnomAD
rs1326070154 CA375874381	509	K>R		No	ClinGen gnomAD
CA375874374 rs1564413979	510	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs771262465 CA5387799	511	H>D		No	ClinGen ExAC TOPMed gnomAD
CA375874367 rs1366216592	511	H>P		No	ClinGen gnomAD
CA201359726 rs201227300	511	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771262465 CA375874368	511	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs773428568 CA201359704	512	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs773428568 CA5387797	512	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs772132775 CA5387796	513	K>R		No	ClinGen ExAC gnomAD
CA5387795 rs748624706	514	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs779436579 CA375874337	516	Q>*		No	ClinGen ExAC gnomAD
rs779436579 CA5387794	516	Q>E		No	ClinGen ExAC gnomAD
CA5387793 VAR_027522 rs3765101	516	Q>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA375874336 rs779436579	516	Q>K		No	ClinGen ExAC gnomAD
rs1351121026 CA375874334	516	Q>R		No	ClinGen gnomAD
CA201359628 rs779099696	519	A>T		No	ClinGen TOPMed gnomAD
rs546803161 CA5387792	520	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA375874304 rs1453337719	521	K>T		No	ClinGen TOPMed
rs1268936702 CA375874298	522	L>V		No	ClinGen gnomAD
CA375874289 rs1449776929	523	K>R		No	ClinGen gnomAD
rs1275114652 CA375874280	524	Q>L		No	ClinGen gnomAD
rs756901587 CA5387790	525	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1276095792 CA375874267	526	V>A		No	ClinGen gnomAD
rs751148566 CA5387789	526	V>I		No	ClinGen ExAC TOPMed gnomAD
COSM1645688 CA375874265 rs752614003 COSM465603	527	E>K	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs752614003 CA5387786	527	E>Q		No	ClinGen ExAC gnomAD
CA5387785 rs765195823	529	L>V		No	ClinGen ExAC TOPMed gnomAD
CA375874243 rs1356363310	530	S>F		No	ClinGen TOPMed gnomAD
rs1434488023 CA375874247	530	S>P		No	ClinGen gnomAD
rs1356363310 CA375874245	530	S>Y		No	ClinGen TOPMed gnomAD
rs776562052 CA5387783	531	P>R		No	ClinGen ExAC gnomAD
CA5387780 rs773518719	532	G>E		No	ClinGen ExAC TOPMed gnomAD
CA375874237 rs760990512 CA5387781	532	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
CA375874233 rs1447724083	533	D>N		No	ClinGen TOPMed
CA5387779 rs772076883	537	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1234128405 CA375874192	538	Y>C		No	ClinGen TOPMed gnomAD
CA5387774 rs370458168	539	E>D		No	ClinGen ESP ExAC gnomAD
rs373717428 CA5387776	539	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373717428 CA5387775	539	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375874182 rs1246709641	540	K>E		No	ClinGen TOPMed
rs1205394468 CA375874174	541	G>R		No	ClinGen gnomAD
rs777344614 CA5387753	545	R>L		No	ClinGen ExAC TOPMed gnomAD
rs777344614 CA5387752	545	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs200871543 CA5387754	545	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA375874120 rs747686155	547	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs370714865 CA5387751	547	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs370714865 CA375874122	547	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5387749 rs778498178	549	S>N		No	ClinGen ExAC gnomAD
rs1588669123 CA375874098	550	K>N		No	ClinGen Ensembl
rs1175794769 CA375874079	553	D>V		No	ClinGen TOPMed
rs12248937 CA5387744 VAR_057059	554	A>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs12248937 CA5387746	554	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5387747 rs753857449	554	A>S		No	ClinGen ExAC TOPMed gnomAD
rs12248937 CA5387745	554	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1316550385 CA375874071	555	S>P		No	ClinGen TOPMed
CA5387741 rs751677509	556	C>F		No	ClinGen ExAC TOPMed gnomAD
rs1216760767 CA375874050	558	P>L		No	ClinGen gnomAD
CA5387740 rs764260771	558	P>T		No	ClinGen ExAC gnomAD
CA5387739 rs762984087	559	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1019489504 CA201354632	562	V>I		No	ClinGen Ensembl
rs1008048500 CA201354589	563	S>A		No	ClinGen Ensembl
CA5387733 rs754727564	564	D>N		No	ClinGen ExAC TOPMed gnomAD
CA375874018 rs754727564	564	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA375874008 rs1349282215	565	I>T		No	ClinGen gnomAD
CA5387732 rs773835709	566	E>D		No	ClinGen ExAC gnomAD
rs1430007106 CA375873996	567	P>S		No	ClinGen gnomAD
CA5387730 rs748784937	569	I>V		No	ClinGen ExAC TOPMed gnomAD
rs780199006 CA5387729	571	V>F		No	ClinGen ExAC gnomAD
CA375873974 rs780199006	571	V>I		No	ClinGen ExAC gnomAD
rs184954182 RCV000883891 CA5387727	574	L>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5387726 rs139545159	575	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5387724 rs192889695	576	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5387723 rs192889695	576	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5387722 rs758526998	577	V>G		No	ClinGen ExAC TOPMed gnomAD
rs902754422 CA201354466	578	L>P		No	ClinGen TOPMed gnomAD
rs561187599 CA5387720	579	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs760100162 CA5387719	580	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	581	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1187343359 CA375873894	582	D>E		No	ClinGen TOPMed gnomAD
rs769463330 CA5387692	582	D>V		No	ClinGen ExAC gnomAD
rs758941879 CA5387691	583	I>T		No	ClinGen ExAC TOPMed gnomAD
CA375873874 rs1206542969	584	P>L		No	ClinGen TOPMed gnomAD
TCGA novel	584	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375873862 rs1564403732	585	V>A		No	ClinGen Ensembl
rs746600102 CA5387688	585	V>I		No	ClinGen ExAC gnomAD
rs372364681 CA201352367	586	Q>E		No	ClinGen ESP TOPMed
rs748483111 CA5387685	586	Q>L		No	ClinGen ExAC gnomAD
CA5387686 rs748483111	586	Q>P		No	ClinGen ExAC gnomAD
rs748483111 CA5387687	586	Q>R		No	ClinGen ExAC gnomAD
rs1404615880 CA375873838	587	Y>S		No	ClinGen TOPMed
rs779282627 CA5387684	588	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs368479367 CA5387681	589	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA5387682 rs368479367 COSM1474587	589	A>T	breast [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs750587354 CA5387680	590	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs750587354 CA5387679	590	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA201352291 rs914461042	590	Q>R		No	ClinGen TOPMed
rs767823938 CA5387678	591	P>A		No	ClinGen ExAC gnomAD
CA375873777 rs1276171897	591	P>H		No	ClinGen TOPMed
rs1296465278 CA375873710	595	M>I		No	ClinGen gnomAD
CA375873716 rs1218328899	595	M>T		No	ClinGen TOPMed
rs146978510 CA5387677	595	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375873703 rs1427084355	596	V>L		No	ClinGen TOPMed gnomAD
rs1427084355 CA375873701	596	V>M		No	ClinGen TOPMed gnomAD
rs764959888 CA5387675	599	R>Q		No	ClinGen ExAC gnomAD
rs564844894 CA5387676	599	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1375165044 CA375873623	601	F>S		No	ClinGen gnomAD
rs1262394710 CA375873587	603	S>N		No	ClinGen TOPMed
CA5387674 rs759455076	605	N>H		No	ClinGen ExAC gnomAD
rs776432710 CA5387673	605	N>K		No	ClinGen ExAC gnomAD
CA5387672 rs760158953	606	T>I		No	ClinGen ExAC TOPMed gnomAD
CA5387671 rs760158953	606	T>K		No	ClinGen ExAC TOPMed gnomAD
CA375873522 rs1199658411	608	P>S		No	ClinGen TOPMed
rs767432568 CA5387668	609	E>K		No	ClinGen ExAC TOPMed gnomAD
CA201352168 rs1034644254	610	E>*		No	ClinGen TOPMed
rs1001376724 CA201352157	610	E>V		No	ClinGen TOPMed
rs779190799 CA5387667	614	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA5387665 rs188627057	615	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs780410490 CA5387664	616	P>S		No	ClinGen ExAC TOPMed gnomAD
CA5387662 rs41305673	618	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375873364 rs1331759163	618	F>S		No	ClinGen TOPMed gnomAD
rs1404128813 CA375873350	619	C>S		No	ClinGen gnomAD
TCGA novel	620	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370694064 CA5387661	620	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5387660 VAR_027523 rs2388556	621	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA375873327 rs1287575191	623	T>A		No	ClinGen gnomAD
rs751839680 CA5387659	623	T>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	623	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5387626 rs568657973	628	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5387625 rs568657973	628	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1259520936 CA375873281	629	L>I		No	ClinGen TOPMed
CA5387624 rs746307158	632	Y>C		No	ClinGen ExAC gnomAD
CA201350073 rs1045814023	633	R>Q		No	ClinGen TOPMed
CA5387623 rs777269256	633	R>W		No	ClinGen ExAC TOPMed gnomAD
CA375873246 rs1240095674	634	E>D		No	ClinGen gnomAD
rs771618324 CA5387622	634	E>K		No	ClinGen ExAC TOPMed gnomAD
rs747032376 CA5387621	636	A>S		No	ClinGen ExAC gnomAD
CA375873232 rs1339146663	636	A>V		No	ClinGen gnomAD
CA5387620 rs777942425	637	Q>*		No	ClinGen ExAC gnomAD
rs1359437982 CA375873212	639	I>T		No	ClinGen gnomAD
CA375873206 rs1475843224	640	E>A		No	ClinGen TOPMed
rs1417744192 CA375873184	643	T>I		No	ClinGen TOPMed
CA5387619 rs758503210	643	T>P		No	ClinGen ExAC TOPMed gnomAD
CA5387615 rs750276160	644	G>E		No	ClinGen ExAC TOPMed gnomAD
CA5387616 rs755898574	644	G>R		No	ClinGen ExAC gnomAD
rs767418827 CA5387614	645	G>R		No	ClinGen ExAC TOPMed gnomAD
rs757224283 CA5387613	646	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1183441915 CA375873155	648	A>T		No	ClinGen gnomAD
rs1483700653 CA375873151	648	A>V		No	ClinGen gnomAD
CA375873145 rs1208304660	649	S>F		No	ClinGen gnomAD
rs1489286343 CA375873141	650	P>L		No	ClinGen gnomAD
CA5387610 rs762451401	651	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1229315706 CA375873130	652	V>A		No	ClinGen gnomAD
CA5387608 CA5387609 rs759961600	652	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5387607 rs759961600	652	V>M		No	ClinGen ExAC TOPMed gnomAD
rs777179291 CA5387606	653	L>P		No	ClinGen ExAC gnomAD
CA5387605 rs771526485	654	P>A		No	ClinGen ExAC gnomAD
CA5387602 rs772198300	655	D>N		No	ClinGen ExAC
CA375873111 rs1298331571	656	D>N		No	ClinGen TOPMed gnomAD
rs745630282 CA5387598	659	M>T		No	ClinGen ExAC TOPMed gnomAD
rs75457174 CA5387599	659	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375873048 rs1588657211	661	T>P		No	ClinGen Ensembl
CA201349830 rs144341821	662	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA201349831 rs375356986	662	Y>H		No	ClinGen ESP
CA5387595 rs751525288	663	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1173574972 CA375873019	664	Q>E		No	ClinGen TOPMed
CA5387562 rs527628844	669	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA375872277 rs527628844	669	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1464290943 CA375872271	670	S>C		No	ClinGen TOPMed gnomAD
rs1379423146 CA375872268	671	L>V		No	ClinGen gnomAD
rs763093078 CA5387559 COSM917723	675	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs199659476 CA5387558	675	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs769963333 CA5387557	676	N>T		No	ClinGen ExAC gnomAD
rs766960802 CA5387556	678	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5387555 rs138229469	679	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375872210 rs1415193133	680	M>I		No	ClinGen TOPMed
rs748758468 CA5387554	680	M>L		No	ClinGen ExAC TOPMed gnomAD
rs748758468 CA375872214	680	M>V		No	ClinGen ExAC TOPMed gnomAD
rs778500904 CA5387552	681	M>I		No	ClinGen ExAC TOPMed gnomAD
CA5387553 rs181357311	681	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375872140 rs754532950	689	N>K		No	ClinGen ExAC gnomAD
CA201349254 rs911998202	690	N>K		No	ClinGen TOPMed gnomAD
CA5387535 rs377153081	691	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs748774646 CA5387533	692	C>R		No	ClinGen ExAC gnomAD
rs554941574 CA5387532	692	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA201349227 rs973182452	693	F>L		No	ClinGen TOPMed
CA5387531 rs200482985	695	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs745518631 CA5387530	696	E>G		No	ClinGen ExAC gnomAD
CA375872055 rs1469656216	696	E>Q		No	ClinGen TOPMed
rs1353858975 CA375871959	701	V>L		No	ClinGen gnomAD
rs868708098 CA201349179	702	L>M		No	ClinGen Ensembl
CA375871880 rs1316796918	705	M>I		No	ClinGen gnomAD
rs751974834 CA5387526	705	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1030843434 CA201349169	706	T>I		No	ClinGen Ensembl
CA201349167 rs906337951	707	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs758938871 CA5387524	708	Q>P		No	ClinGen ExAC gnomAD
TCGA novel	709	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA201349158 rs777006071	710	L>F		No	ClinGen Ensembl
CA5387521 rs759740462	711	A>P		No	ClinGen ExAC TOPMed gnomAD
rs759740462 CA5387522	711	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5387520 rs754003217	711	A>V		No	ClinGen ExAC gnomAD
rs766768216 CA5387519	712	N>H		No	ClinGen ExAC gnomAD
CA5387518 rs555697226	712	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA5387517 rs774329846	714	I>V		No	ClinGen ExAC TOPMed gnomAD
CA375871716 rs763007183	715	P>A		No	ClinGen ExAC TOPMed gnomAD
CA375871717 rs763007183	715	P>S		No	ClinGen ExAC TOPMed gnomAD
CA5387515 rs763007183	715	P>T		No	ClinGen ExAC TOPMed gnomAD
rs539148366 CA375871650	721	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769188887 CA5387513	721	Y>C		No	ClinGen ExAC gnomAD
COSM1347594 CA5387511 rs372253193	722	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA375871640 rs1439196756	723	S>T		No	ClinGen gnomAD
CA5387509 rs747337908	724	I>M		No	ClinGen ExAC gnomAD
CA375871611 rs1402933936	725	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1439087871 CA375871615	725	R>T		No	ClinGen gnomAD
CA375871598 rs1314631361	727	G>D		No	ClinGen TOPMed
rs959266064 CA201349087	727	G>S		No	ClinGen TOPMed
CA5387507 COSM3751728 COSM3751729 COSM3751727 rs201454628	728	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA5387508 rs570447323	728	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA201349068 rs1036996424	729	T>A		No	ClinGen Ensembl
rs1432249397 CA375871580	729	T>S		No	ClinGen gnomAD
rs79257157 CA375871558	731	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs79257157 RCV000894024 CA5387506	731	T>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA375871549 rs1470944868	732	P>L		No	ClinGen TOPMed gnomAD
CA375871545 rs1471648792	733	A>G		No	ClinGen TOPMed
CA201349060 rs368157059	733	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5387503 rs368157059	733	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA5387502 rs766678393	734	G>V		No	ClinGen ExAC gnomAD
CA375871528 rs1418818651	735	D>G		No	ClinGen TOPMed
rs1418818651 CA375871527	735	D>V		No	ClinGen TOPMed
CA375871522 rs1457524131	736	L>M		No	ClinGen TOPMed gnomAD
rs1457524131 CA375871523	736	L>V		No	ClinGen TOPMed gnomAD
rs576828226 CA5387500	741	S>C		No	ClinGen ExAC TOPMed gnomAD
rs576828226 CA375871481	741	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1345823650 CA375871479	741	S>T		No	ClinGen gnomAD
CA375871475 rs1232778915	742	G>R		No	ClinGen TOPMed gnomAD
rs1332518661 CA375871465	743	M>T		No	ClinGen gnomAD
CA5387498 rs368309088	745	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs775282398 CA375871449	745	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA5387497 rs775282398	745	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA375871450 rs775282398	745	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1274304376 CA375871433	746	V>A		No	ClinGen TOPMed
CA5387463 rs200811251	746	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA375871435 COSM3414968 COSM3414967 COSM3414969 rs200811251	746	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs140399473 CA5387461 RCV000917650	747	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs745999703 CA5387462	747	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1412309334 CA375871426	748	L>P		No	ClinGen gnomAD
rs1298689981 CA375871417 CA375871418	749	M>I		No	ClinGen gnomAD
rs757536690 CA5387460	749	M>V		No	ClinGen ExAC gnomAD
CA5387459 rs752391392	751	R>K		No	ClinGen ExAC TOPMed gnomAD
rs752391392 CA375871404	751	R>T		No	ClinGen ExAC TOPMed gnomAD
CA201348512 rs376418473	752	I>V		No	ClinGen ESP gnomAD
rs766365510 CA5387455 COSM917720	755	M>I	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs753774272 CA5387456	755	M>T		No	ClinGen ExAC gnomAD
CA375871366 rs1475304926	757	D>Y		No	ClinGen TOPMed
CA375871356 rs1189643545	758	I>T		No	ClinGen TOPMed
rs760156947 CA5387454	760	P>A		No	ClinGen ExAC TOPMed gnomAD
rs760156947 CA375871344	760	P>T		No	ClinGen ExAC TOPMed gnomAD
CA201348478 rs372074702	761	I>F		No	ClinGen ESP TOPMed gnomAD
rs886644028 CA201348474	761	I>M		No	ClinGen TOPMed gnomAD
CA375871313 rs1248806278	765	L>F		No	ClinGen gnomAD
CA201348457 rs996320560	765	L>H		No	ClinGen TOPMed gnomAD
rs1272083693 CA375871305	766	P>L		No	ClinGen gnomAD
CA375871308 rs1334615940	766	P>S		No	ClinGen gnomAD
CA5387451 rs75872550	767	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375871304 rs75872550	767	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5387449 rs534896908	767	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs534896908 CA5387450	767	R>P		No	ClinGen ExAC TOPMed gnomAD
CA201348419 rs75872550	767	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1359861782 CA375871301	768	I>V		No	ClinGen gnomAD
CA375871295 rs1295220340	769	K>E		No	ClinGen gnomAD
TCGA novel	769	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1415550078 CA375871291	769	K>R		No	ClinGen TOPMed
rs1436856639 CA375871278	771	H>Y		No	ClinGen gnomAD
rs765828800 CA201348395	772	L>S		No	ClinGen gnomAD
rs902586672 CA201348388	774	N>K		No	ClinGen Ensembl
CA5387447 rs749737129	774	N>S		No	ClinGen ExAC gnomAD
rs776127138 CA5387446	775	G>D		No	ClinGen ExAC gnomAD
CA375871243 rs1424403680	776	D>G		No	ClinGen gnomAD
CA375871235 rs1315101573	777	N>S		No	ClinGen TOPMed
rs1564397383 CA375871226	778	M>I		No	ClinGen Ensembl
rs1046836859 CA201348384	778	M>T		No	ClinGen TOPMed
CA375871230 rs1427255662	778	M>V		No	ClinGen TOPMed gnomAD
rs1336142354 CA375870903	779	R>S		No	ClinGen gnomAD
CA5387444 rs201874915	779	R>W		No	ClinGen ESP ExAC gnomAD
CA375870897 rs1364412019	780	C>F		No	ClinGen TOPMed
rs770381835 CA5387426	783	N>I		No	ClinGen ExAC TOPMed gnomAD
CA375870875 rs1313620220	784	A>T		No	ClinGen gnomAD
CA5387424 rs566589608	784	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA375870859 rs1160985828	786	P>L		No	ClinGen gnomAD
rs1025495898 CA201347289	791	Q>*		No	ClinGen TOPMed gnomAD
CA201347287 rs547090878	791	Q>P		No	ClinGen TOPMed gnomAD
CA201347281 rs373236884	794	K>E		No	ClinGen ESP TOPMed gnomAD
rs1416993022 CA375870805	794	K>T		No	ClinGen gnomAD
CA375870800 rs1208332007	795	A>P		No	ClinGen TOPMed
CA5387422 rs529570583	795	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1255249963 CA375870792	796	V>A		No	ClinGen gnomAD
rs772321856 CA5387420	796	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	797	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	797	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1414990024 CA375870774	799	F>L		No	ClinGen TOPMed
rs1351080718 CA375870768	799	F>L		No	ClinGen gnomAD
CA375870770 rs1334630970	799	F>S		No	ClinGen gnomAD
rs1237137461 CA375870752	802	S>G		No	ClinGen TOPMed gnomAD
rs755990101 CA5387417	804	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1055454754 CA375870733	805	R>G		No	ClinGen TOPMed gnomAD
rs34837384 CA5387416 RCV000947227 VAR_057060	805	R>Q		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1055454754 CA201347264	805	R>W		No	ClinGen TOPMed gnomAD
CA201347253 rs939342010	806	S>G		No	ClinGen TOPMed
CA375870728 rs1300537424	806	S>N		No	ClinGen gnomAD
CA201347209 rs368975326	807	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA375870710 rs1314280484	808	K>N		No	ClinGen TOPMed
rs376250180 CA5387415	808	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375870695 rs1165212923	810	R>Q		No	ClinGen TOPMed gnomAD
rs376677614 CA5387413	810	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375870687 rs1276889116	811	R>K		No	ClinGen TOPMed
rs1045252973 CA201347160	813	V>A		No	ClinGen TOPMed gnomAD
rs751078297 CA375870669	813	V>L		No	ClinGen ExAC TOPMed gnomAD
rs751078297 CA5387412	813	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5387411 rs535250510	814	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1484434900 CA375870659	814	R>H		No	ClinGen TOPMed
rs1588646258 CA375870636	816	H>R		No	ClinGen Ensembl
CA5387410 rs373958442	817	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA201347154 rs373958442	817	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA201347126 rs955473499	819	E>K		No	ClinGen TOPMed
rs1588641439 CA375870514	820	K>N		No	ClinGen Ensembl
rs1186988755 CA375870508	821	P>S		No	ClinGen TOPMed
CA5387397 rs745708317	822	V>A		No	ClinGen ExAC TOPMed gnomAD
CA5387396 rs781167579	823	P>S		No	ClinGen ExAC TOPMed gnomAD
CA375870400 rs1395445841	828	G>E		No	ClinGen gnomAD
CA375870396 rs1395445841	828	G>V		No	ClinGen gnomAD
rs1192849666 CA375870384	829	D>V		No	ClinGen gnomAD
rs376788309 CA375870350	831	H>Q		No	ClinGen ESP TOPMed gnomAD
rs1234764717 CA375870360	831	H>Y		No	ClinGen gnomAD
rs746483837 CA5387394	832	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	833	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA201345770 rs540174923	834	H>R		No	ClinGen 1000Genomes
rs1202682102 CA375870246	837	Q>*		No	ClinGen gnomAD
CA5387393 rs571049749	838	V>G		No	ClinGen 1000Genomes ExAC
CA5387392 rs371622404	841	K>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs867797031 CA201345730	841	K>N		No	ClinGen TOPMed
rs1280246471 CA375870176	841	K>R		No	ClinGen gnomAD
TCGA novel	843	V>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375870150 rs752396723	843	V>I		No	ClinGen ExAC gnomAD
rs752396723 CA5387391	843	V>L		No	ClinGen ExAC gnomAD
TCGA novel	844	M>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1318441027 CA375870121	844	M>I		No	ClinGen TOPMed
rs557772112 CA5387389	844	M>T		No	ClinGen 1000Genomes ExAC gnomAD
rs765043268 CA5387390	844	M>V		No	ClinGen ExAC gnomAD
CA5387343 rs760360649	846	P>H		No	ClinGen ExAC TOPMed gnomAD
rs760360649 CA201344480	846	P>L		No	ClinGen ExAC TOPMed gnomAD
CA375868983 rs1340044713	846	P>S		No	ClinGen gnomAD
CA375868946 rs1370010836	847	T>I		No	ClinGen gnomAD
CA5387342 rs773176745	848	F>S		No	ClinGen ExAC gnomAD
rs1178652858 CA375868906	849	K>E		No	ClinGen TOPMed
CA5387340 rs761856858	850	P>H		No	ClinGen ExAC gnomAD
rs761856858 CA375868866	850	P>L		No	ClinGen ExAC gnomAD
CA5387341 rs761856858	850	P>R		No	ClinGen ExAC gnomAD
rs965995934 CA201344467	851	W>*		No	ClinGen Ensembl
CA5387338 rs147933160	851	W>C		No	ClinGen 1000Genomes ExAC gnomAD
CA375868854 rs1381608277	851	W>G		No	ClinGen TOPMed
rs748885284 CA5387337	852	Q>R		No	ClinGen ExAC gnomAD
rs1437348384 CA375868739	855	T>S		No	ClinGen TOPMed
rs769525627 CA5387335	856	H>N		No	ClinGen ExAC TOPMed gnomAD
rs1434445272 CA375868719	856	H>R		No	ClinGen gnomAD
rs769525627 CA375868731	856	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA5387334 rs746190050	857	F>L		No	ClinGen ExAC gnomAD
rs1393699603 CA375868698	857	F>S		No	ClinGen gnomAD
rs757700472 CA5387332	859	M>T		No	ClinGen ExAC gnomAD
rs778408410 CA5387331	860	P>S		No	ClinGen ExAC TOPMed gnomAD
rs778408410 CA5387330	860	P>T		No	ClinGen ExAC TOPMed gnomAD
CA5387329 rs758388821	861	F>L		No	ClinGen ExAC gnomAD
rs1564389833 CA375868648	861	F>L		No	ClinGen Ensembl
CA5387328 rs200076818	862	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1254078551 COSM1171687 CA375868622	864	N>H	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
CA201344374 rs1010699643	865	Y>*		No	ClinGen TOPMed gnomAD
CA5387326 rs371412408	866	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs371412408 CA5387325	866	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA375868576 rs1306567994	867	G>A		No	ClinGen TOPMed gnomAD
COSM1720014 CA375868578 rs1306567994 COSM1720013	867	G>D	NS [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA375868575 rs1306567994	867	G>V		No	ClinGen TOPMed gnomAD
rs201711669 CA5387324	868	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1428554060 CA375868546	869	C>W		No	ClinGen gnomAD
rs1357480201 CA375868538	870	I>T		No	ClinGen gnomAD
rs761769005 CA5387323	871	R>*		No	ClinGen ExAC gnomAD
rs774144607 COSM917719 CA5387322	871	R>Q	endometrium Variant assessed as Somatic; 4.642e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5387321 rs764140057	872	T>A		No	ClinGen ExAC gnomAD
rs762337095 CA5387320	872	T>S		No	ClinGen ExAC gnomAD
CA5387319 rs200737276	873	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs200737276 CA5387318	873	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs35046873 CA5387317 RCV000965129	876	T>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA375868470 rs1471303294	877	D>H		No	ClinGen gnomAD
rs1564389532 CA375868448	878	P>L		No	ClinGen Ensembl
rs894722994 CA201344266	878	P>S		No	ClinGen TOPMed
rs1564389521 CA375868414	881	A>P		No	ClinGen Ensembl
CA375868408 rs1419445195	881	A>V		No	ClinGen gnomAD
rs776910750 CA5387316	882	S>N		No	ClinGen ExAC gnomAD
rs71477812 RCV000845060 CA5387259	883	L>F		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs71477812 CA375867458	883	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375867445 rs1588626200	885	I>V		No	ClinGen Ensembl
CA375867429 rs998266024	887	A>E		No	ClinGen TOPMed gnomAD
CA201339338 rs998266024	887	A>V		No	ClinGen TOPMed gnomAD
CA5387258 rs760169489	888	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5387257 rs775017537	888	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	890	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375867381 rs565586292	894	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200594876 CA5387255	895	L>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1265855036 CA375867374	896	H>D		No	ClinGen gnomAD
rs1265855036 CA375867372	896	H>N		No	ClinGen gnomAD
rs1321821860 CA375867368	896	H>Q		No	ClinGen gnomAD
rs1214951565 CA375867370	896	H>R		No	ClinGen gnomAD
rs1040707325 CA201339296	897	T>I		No	ClinGen TOPMed gnomAD
COSM1347592 CA5387254 rs767127875	900	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA375867346 rs767127875	900	R>G		No	ClinGen ExAC TOPMed gnomAD
CA375867345 rs1483011118	900	R>Q		No	ClinGen TOPMed
rs1363797260 CA375867338	901	E>G		No	ClinGen gnomAD
rs1363797260 CA375867337	901	E>V		No	ClinGen gnomAD
CA375867323 rs1363216848	903	G>D		No	ClinGen gnomAD
rs1349409981 CA375867318	904	G>A		No	ClinGen gnomAD
CA5387249 rs372273001	904	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5387248 rs372273001	904	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1419796724 CA375867298	907	G>A		No	ClinGen TOPMed
rs1163264621 CA375867302	907	G>S		No	ClinGen gnomAD
rs1043019043 CA201339255	909	G>R		No	ClinGen Ensembl
CA5387246 COSM3665699 COSM1603398 rs529224210 COSM3665700 COSM3665698	910	A>T	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA375867281 rs1448060697	910	A>V		No	ClinGen gnomAD
CA375867260 rs770061834 CA201339244	913	S>R		No	ClinGen ExAC TOPMed gnomAD
CA375867266 rs1400978508	913	S>R		No	ClinGen gnomAD
CA201339232 rs1056947709	914	H>Q		No	ClinGen Ensembl
CA201339240 rs750476887	914	H>R		No	ClinGen Ensembl
CA375867253 rs1336114078	915	N>D		No	ClinGen TOPMed
rs938453790 COSM3807050 COSM3807048 COSM3807049 COSM3807051 CA201339227	915	N>S	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
TCGA novel	919	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375867221 rs1588625723	919	T>S		No	ClinGen Ensembl
CA375867213 rs1445919839	921	Y>N		No	ClinGen TOPMed
TCGA novel	922	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs543675507 CA5387242	923	Y>D		No	ClinGen 1000Genomes ExAC gnomAD
CA201339195 rs767890454	924	R>G		No	ClinGen Ensembl
TCGA novel	924	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5387212 rs758812683	925	D>A		No	ClinGen ExAC gnomAD
rs757549094 CA5387210	926	P>R		No	ClinGen ExAC gnomAD
CA5387209 rs759976626	927	N>D		No	ClinGen ExAC TOPMed gnomAD
rs569124360 CA375866790	928	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs569124360 CA5387208	928	T>K		No	ClinGen 1000Genomes ExAC gnomAD
rs569124360 CA5387207	928	T>R		No	ClinGen 1000Genomes ExAC gnomAD
CA375866785 rs1222482638	929	I>T		No	ClinGen TOPMed
rs1279780339 CA375866780	930	E>Q		No	ClinGen TOPMed
CA5387203 rs773403804	932	L>F		No	ClinGen ExAC TOPMed gnomAD
CA375866755 rs1402063792	933	Q>*		No	ClinGen gnomAD
CA375866741 rs772323866 CA5387202	933	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1224657058 CA375866752	933	Q>P		No	ClinGen TOPMed
CA375866738 rs1588619379	934	S>T		No	ClinGen Ensembl
rs532421107 CA5387201	935	F>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA201337325 rs982151200 CA201337323	936	G>R		No	ClinGen TOPMed gnomAD
rs769711888 CA5387198	938	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5387196 rs201882831	940	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	941	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199538770 CA5387194	942	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5387193 rs201649168	943	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1455202276 CA375866559	945	G>R		No	ClinGen gnomAD
rs1236486822 CA375866501	948	T>I		No	ClinGen TOPMed
CA5387191 rs777534997	949	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1422999119 CA375866478	950	Q>*		No	ClinGen gnomAD
CA375866473 rs1359924799	950	Q>R		No	ClinGen TOPMed
rs758154756 CA5387190	951	D>N		No	ClinGen ExAC TOPMed gnomAD
COSM4144645 CA5387186 COSM4144646 COSM4144648 rs2279219 COSM4144647 RCV000954551 VAR_027524	952	I>M	thyroid [Cosmic]	No	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs779152302 CA5387188	952	I>V		No	ClinGen ExAC gnomAD
COSM3414962 COSM3414964 COSM3414963 rs373206278 CA5387185 COSM3414965	953	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA375866393 rs1244760373	954	E>D		No	ClinGen gnomAD
CA5387183 COSM917710 rs375085624	954	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1339060966 CA375866373	956	K>Q		No	ClinGen gnomAD
CA375866328 rs1298275310	958	S>F		No	ClinGen gnomAD
CA201337172 rs182908950	959	V>I		No	ClinGen 1000Genomes
CA375866295 rs531351072	960	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA5387181 rs767680494	960	F>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	961	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5387179 rs775286183	961	S>A		No	ClinGen ExAC gnomAD
rs897881134 CA201337160	962	T>S		No	ClinGen Ensembl
rs1163751805 CA375866259	963	V>A		No	ClinGen gnomAD
VAR_027525 rs17849904 CA5387177	963	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs534536142 CA5387175	965	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs534536142 COSM1474586 CA5387176	965	A>T	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs375964432 CA5387174	965	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	966	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5387172 rs771785702	967	V>L		No	ClinGen ExAC TOPMed gnomAD
CA375866183 rs755277217	968	A>P		No	ClinGen ExAC gnomAD
CA5387169 rs755277217	968	A>T		No	ClinGen ExAC gnomAD
VAR_027526 CA5387168 rs2279218	969	P>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1228130467 CA375866158	971	D>A		No	ClinGen TOPMed
rs780501465 CA5387167	971	D>H		No	ClinGen ExAC TOPMed gnomAD
CA201337060 rs780501465	971	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA201337042 rs758773446	972	K>Q		No	ClinGen Ensembl
TCGA novel	974	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5387105 rs777002537	974	M>V		No	ClinGen ExAC TOPMed gnomAD
rs747554708 CA5387103	976	H>Q		No	ClinGen ExAC gnomAD
rs1356773348 CA375865918	976	H>Y		No	ClinGen gnomAD
CA375865908 rs1445551656	977	F>C		No	ClinGen gnomAD
rs1367553585 CA375865905	978	L>V		No	ClinGen gnomAD
rs748279637 CA5387099	980	G>A		No	ClinGen ExAC TOPMed gnomAD
rs772171696 CA5387100 COSM1347590	980	G>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5387097 rs755277786	982	S>L		No	ClinGen ExAC TOPMed gnomAD
rs781048947 CA5387095	983	D>G		No	ClinGen ExAC gnomAD
rs757064249 CA5387094	984	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1264657490 CA375865833	985	M>K		No	ClinGen TOPMed
rs1239921341 CA375865804	987	Q>*		No	ClinGen TOPMed gnomAD
CA5387092 rs370135692	987	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5387090 rs1802344	989	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA375865774 rs1173678458	989	H>Y		No	ClinGen TOPMed
CA375865738 rs1344088649	991	E>K		No	ClinGen gnomAD
CA375865678 rs1160413777	994	F>L		No	ClinGen TOPMed
rs1228012755 CA375865658	995	A>T		No	ClinGen gnomAD
rs190434719 CA5387087	996	V>L		No	ClinGen 1000Genomes ESP TOPMed gnomAD
CA5387085 rs543153239	997	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs372883237 CA5387083	997	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372883237 CA5387084	997	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370317886 CA375865601	998	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5387080 rs748193746	999	D>E		No	ClinGen ExAC
rs772488908 CA375865595	999	D>H		No	ClinGen ExAC TOPMed gnomAD
rs772488908 CA5387081	999	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs978562655 CA375865572	1000	K>R		No	ClinGen TOPMed gnomAD
CA201335868 rs978562655	1000	K>T		No	ClinGen TOPMed gnomAD
rs1168826880 CA375865556	1001	L>F		No	ClinGen gnomAD
rs1288756888 CA375865535	1002	L>P		No	ClinGen TOPMed
CA375865522 rs1246019670	1003	A>G		No	ClinGen gnomAD
CA375865526 rs1488536802	1003	A>T		No	ClinGen TOPMed gnomAD
CA5387076 rs537269577	1004	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5387075 rs537269577	1004	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758352717 CA5387072	1006	D>H		No	ClinGen ExAC TOPMed gnomAD
rs758352717 CA5387073	1006	D>N		No	ClinGen ExAC TOPMed gnomAD
rs11414 CA201335502	1007	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5387032 rs371398920	1008	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA375865344 rs1395818372	1008	Y>C		No	ClinGen gnomAD
rs1053759464 CA201335488	1008	Y>N		No	ClinGen TOPMed
rs779437258 CA375865314	1010	G>A		No	ClinGen ExAC gnomAD
rs779437258 CA5387029	1010	G>D		No	ClinGen ExAC gnomAD
CA5387030 COSM3790746 rs748775154 COSM3790747 COSM3790748	1010	G>S	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5387027 rs750035091	1011	T>I		No	ClinGen ExAC gnomAD
rs1165148557 CA375865280	1013	K>E		No	ClinGen gnomAD
CA5387024 rs752000592	1015	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1465388267 CA375865263	1015	T>K		No	ClinGen gnomAD
rs763382286 CA5387022	1016	H>N		No	ClinGen ExAC gnomAD
rs41316039 CA5387021	1016	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776803799 CA375865243	1017	G>A		No	ClinGen ExAC TOPMed gnomAD
CA5387018 rs776803799	1017	G>D		No	ClinGen ExAC TOPMed gnomAD
rs35779348 CA201335410	1017	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5387019 rs35779348	1017	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375865213 rs1365298421	1020	I>V		No	ClinGen gnomAD
CA375865176 CA5387016 rs761549053	1022	G>R		No	ClinGen ExAC TOPMed gnomAD
CA201335360 rs768575153	1024	E>K		No	ClinGen ExAC TOPMed gnomAD
CA5387014 rs768575153	1024	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA5387013 rs749180657	1025	N>H		No	ClinGen ExAC TOPMed gnomAD
rs1588613053 CA375865127	1025	N>T		No	ClinGen Ensembl
CA375865103 rs1383095699	1026	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA5387012 rs780102110	1026	P>S		No	ClinGen ExAC gnomAD
CA5387009 rs780947659	1029	A>S		No	ClinGen ExAC gnomAD
CA5387008 rs780947659	1029	A>T		No	ClinGen ExAC gnomAD
CA201335326 rs372123260	1029	A>V		No	ClinGen Ensembl
CA375865066 rs1588612954	1031	D>A		No	ClinGen Ensembl
CA375865062 rs1009664836	1031	D>E		No	ClinGen TOPMed gnomAD
rs896536871 CA201335314	1032	P>T		No	ClinGen Ensembl
CA201335288 rs746834292	1034	W>C		No	ClinGen Ensembl
rs1173466007 CA375865042	1035	I>F		No	ClinGen TOPMed
CA5387006 rs751912383	1036	I>F		No	ClinGen ExAC gnomAD
CA201335284 rs778286117	1036	I>M		No	ClinGen ExAC TOPMed gnomAD
rs751912383 CA375865034	1036	I>V		No	ClinGen ExAC gnomAD
rs201112796 CA5387004	1037	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5387003 rs201112796	1037	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375865027 rs759496100	1037	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA375865030 rs201112796	1037	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375865029 rs6901	1037	Q>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs6901 CA375865028	1037	Q>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs6901 VAR_027527 CA5387002	1037	Q>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs377283587 CA201335257	1038	Q>R		No	ClinGen ESP gnomAD

1 associated diseases with Q5JRX3

[MIM: 619405]: Spinocerebellar ataxia, autosomal recessive, 30 (SCAR30)

A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR30 is a progressive disease characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia. Affected individuals may also have psychiatric abnormalities. {ECO:0000269|PubMed:26697887, ECO:0000269|PubMed:29383861, ECO:0000269|PubMed:29764912}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR30 is a progressive disease characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia. Affected individuals may also have psychiatric abnormalities. {ECO:0000269|PubMed:26697887, ECO:0000269|PubMed:29383861, ECO:0000269|PubMed:29764912}. Note=The disease is caused by variants affecting the gene represented in this entry.

4 regional properties for Q5JRX3

Type	Name	Position	InterPro Accession
domain	Peptidase M16, C-terminal	245 - 427	IPR007863-1
domain	Peptidase M16, C-terminal	774 - 956	IPR007863-2
domain	Peptidase M16, N-terminal	96 - 177	IPR011765
domain	Peptidase M16C associated	504 - 752	IPR013578

Functions

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

2 GO annotations of cellular component

Name	Definition
mitochondrial matrix	The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.

4 GO annotations of molecular function

Name	Definition
enzyme activator activity	Binds to and increases the activity of an enzyme.
metalloendopeptidase activity	Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions.
metallopeptidase activity	Catalysis of the hydrolysis of peptide bonds by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions.
zinc ion binding	Binding to a zinc ion (Zn).

3 GO annotations of biological process

Name	Definition
protein processing	Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein.
protein targeting to mitochondrion	The process of directing proteins towards and into the mitochondrion, usually mediated by mitochondrial proteins that recognize signals contained within the imported protein.
proteolysis	The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9LJL3	PREP1	Presequence protease 1, chloroplastic/mitochondrial	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MWRCGGRQGL	CVLRRLSGGH	AHHRAWRWNS	NRACERALQY	KLGDKIHGFT	VNQVTSVPEL
70	80	90	100	110	120
FLTAVKLTHD	DTGARYLHLA	REDTNNLFSV	QFRTTPMDST	GVPHILEHTV	LCGSQKYPCR
130	140	150	160	170	180
DPFFKMLNRS	LSTFMNAFTA	SDYTLYPFST	QNPKDFQNLL	SVYLDATFFP	CLRELDFWQE
190	200	210	220	230	240
GWRLEHENPS	DPQTPLVFKG	VVFNEMKGAF	TDNERIFSQH	LQNRLLPDHT	YSVVSGGDPL
250	260	270	280	290	300
CIPELTWEQL	KQFHATHYHP	SNARFFTYGN	FPLEQHLKQI	HEEALSKFQK	IEPSTVVPAQ
310	320	330	340	350	360
TPWDKPREFQ	ITCGPDSFAT	DPSKQTTISV	SFLLPDITDT	FEAFTLSLLS	SLLTSGPNSP
370	380	390	400	410	420
FYKALIESGL	GTDFSPDVGY	NGYTREAYFS	VGLQGIAEKD	IETVRSLIDR	TIDEVVEKGF
430	440	450	460	470	480
EDDRIEALLH	KIEIQMKHQS	TSFGLMLTSY	IASCWNHDGD	PVELLKLGNQ	LAKFRQCLQE
490	500	510	520	530	540
NPKFLQEKVK	QYFKNNQHKL	TLSMRPDDKY	HEKQAQVEAT	KLKQKVEALS	PGDRQQIYEK
550	560	570	580	590	600
GLELRSQQSK	PQDASCLPAL	KVSDIEPTIP	VTELDVVLTA	GDIPVQYCAQ	PTNGMVYFRA
610	620	630	640	650	660
FSSLNTLPEE	LRPYVPLFCS	VLTKLGCGLL	DYREQAQQIE	LKTGGMSASP	HVLPDDSHMD
670	680	690	700	710	720
TYEQGVLFSS	LCLDRNLPDM	MQLWSEIFNN	PCFEEEEHFK	VLVKMTAQEL	ANGIPDSGHL
730	740	750	760	770	780
YASIRAGRTL	TPAGDLQETF	SGMDQVRLMK	RIAEMTDIKP	ILRKLPRIKK	HLLNGDNMRC
790	800	810	820	830	840
SVNATPQQMP	QTEKAVEDFL	RSIGRSKKER	RPVRPHTVEK	PVPSSSGGDA	HVPHGSQVIR
850	860	870	880	890	900
KLVMEPTFKP	WQMKTHFLMP	FPVNYVGECI	RTVPYTDPDH	ASLKILARLM	TAKFLHTEIR
910	920	930	940	950	960
EKGGAYGGGA	KLSHNGIFTL	YSYRDPNTIE	TLQSFGKAVD	WAKSGKFTQQ	DIDEAKLSVF
970	980	990	1000	1010	1020
STVDAPVAPS	DKGMDHFLYG	LSDEMKQAHR	EQLFAVSHDK	LLAVSDRYLG	TGKSTHGLAI
1030
LGPENPKIAK	DPSWIIQ