AiPD: Autoinhibited Protein Database

Q96EY7

Gene name	PTCD3 (MRPS39, TRG15)
Protein name	Pentatricopeptide repeat domain-containing protein 3, mitochondrial
Names	28S ribosomal protein S39, mitochondrial, MRP-S39, Mitochondrial small ribosomal subunit protein mS39, Transformation-related gene 15 protein, TRG-15
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55037
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

634-689 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

634-689 (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

43 structures for Q96EY7

Entry ID	Method	Resolution	Chain	Position	Source
3J9M	EM	350 A	A4	1-689	PDB
6NU2	EM	390 A	A4	56-639	PDB
6NU3	EM	440 A	A4	56-639	PDB
6RW4	EM	297 A	4	1-689	PDB
6RW5	EM	314 A	4	1-689	PDB
6VLZ	EM	297 A	A4	1-689	PDB
6VMI	EM	296 A	A4	1-689	PDB
6ZM5	EM	289 A	A4	1-689	PDB
6ZM6	EM	259 A	A4	1-689	PDB
6ZS9	EM	400 A	A4	56-689	PDB
6ZSA	EM	400 A	A4	56-689	PDB
6ZSB	EM	450 A	A4	56-689	PDB
6ZSC	EM	350 A	A4	56-689	PDB
6ZSD	EM	370 A	A4	56-689	PDB
6ZSE	EM	500 A	A4	56-689	PDB
6ZSG	EM	400 A	A4	56-689	PDB
7A5F	EM	440 A	e6	1-689	PDB
7A5G	EM	433 A	e6	1-689	PDB
7A5I	EM	370 A	e6	1-689	PDB
7A5K	EM	370 A	e6	1-689	PDB
7L08	EM	349 A	A4	1-689	PDB
7OG4	EM	380 A	A4	1-689	PDB
7P2E	EM	240 A	4	1-689	PDB
7PNX	EM	276 A	4	1-689	PDB
7PNY	EM	306 A	4	1-689	PDB
7PNZ	EM	309 A	4	1-689	PDB
7PO0	EM	290 A	4	1-689	PDB
7PO1	EM	292 A	4	1-689	PDB
7PO2	EM	309 A	4	1-689	PDB
7PO3	EM	292 A	4	1-689	PDB
7QI4	EM	221 A	A4	1-689	PDB
7QI5	EM	263 A	A4	1-689	PDB
7QI6	EM	298 A	A4	1-689	PDB
8ANY	EM	285 A	A4	1-689	PDB
8CSP	EM	266 A	4	1-689	PDB
8CSQ	EM	254 A	4	1-689	PDB
8CSR	EM	254 A	4	1-689	PDB
8CSS	EM	236 A	4	1-689	PDB
8CST	EM	285 A	4	1-689	PDB
8CSU	EM	303 A	4	1-689	PDB
8OIR	EM	310 A	Ae	1-689	PDB
8OIS	EM	300 A	Ae	1-689	PDB
AF-Q96EY7-F1	Predicted				AlphaFoldDB

625 variants for Q96EY7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1573859565 RCV001261550	583	F>missing	Combined oxidative phosphorylation deficiency 51 [ClinVar]	Yes	ClinVar dbSNP
rs13393659 CA347559526	2	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs13393659 CA347559528	2	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA347559521 rs1398657660	2	A>T		No	ClinGen gnomAD
rs13393659 CA1746806 VAR_035154	2	A>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA347559538 rs376098144	3	V>I		No	ClinGen ESP ExAC gnomAD
rs376098144 CA1746809	3	V>L		No	ClinGen ESP ExAC gnomAD
CA347559569 rs1370224749	4	V>A		No	ClinGen TOPMed gnomAD
rs1301187767 CA347559560	4	V>L		No	ClinGen gnomAD
rs537889886 CA1746814	5	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs371120235 CA1746812	5	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs537889886 CA1746813	5	S>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201067869 CA51375170	6	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1746816 rs201067869	6	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1746817 rs575036301	7	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA347559608 rs1465422488	7	V>F		No	ClinGen gnomAD
rs367702182 CA1746818	8	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1746820 rs367702182	8	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA51375183 rs757202040	8	R>H		No	ClinGen ExAC TOPMed gnomAD
rs757202040 CA1746821 COSM1191887	8	R>L	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs367702182 CA1746819	8	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1468225992 CA347559650	9	W>*		No	ClinGen TOPMed gnomAD
rs1468225992 CA347559652 CA347559655	9	W>C		No	ClinGen TOPMed gnomAD
rs980243567 CA51375193 CA347559637	9	W>R		No	ClinGen TOPMed gnomAD
CA1746825 rs768608688	10	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1338995565 CA347559665	10	L>P		No	ClinGen TOPMed
rs140025381 CA1746827	11	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1323360973 CA347559681	11	G>D		No	ClinGen gnomAD
CA347559675 rs140025381	11	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140025381 CA1746828	11	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA347559684 rs1323360973	11	G>V		No	ClinGen gnomAD
CA1746830 rs761051792	12	L>F		No	ClinGen ExAC TOPMed gnomAD
rs771630638 CA1746831	12	L>P		No	ClinGen ExAC
CA1746832 rs777263353	13	R>C		No	ClinGen ExAC TOPMed gnomAD
CA51375290 rs764621355	13	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1746835 rs764621355	13	R>L		No	ClinGen ExAC TOPMed gnomAD
CA1746834 rs764621355	13	R>P		No	ClinGen ExAC TOPMed gnomAD
CA1746833 rs777263353	13	R>S		No	ClinGen ExAC TOPMed gnomAD
CA1746836 rs762537111	14	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1330137016 CA347559743	15	R>K		No	ClinGen gnomAD
CA347559765 rs1210636006	15	R>S		No	ClinGen TOPMed gnomAD
CA347559780 rs751363119	16	L>H		No	ClinGen ExAC gnomAD
CA1746838 rs751363119	16	L>R		No	ClinGen ExAC gnomAD
rs200426943 CA1746839	17	G>A		No	ClinGen ExAC gnomAD
rs200426943 CA1746840	17	G>D		No	ClinGen ExAC gnomAD
CA347559791 rs1485977445	17	G>R		No	ClinGen gnomAD
CA1746841 rs750341904	18	Q>*		No	ClinGen ExAC gnomAD
rs756035657 CA1746843	19	P>A		No	ClinGen ExAC TOPMed gnomAD
CA1746844 rs748198617	19	P>L		No	ClinGen ExAC gnomAD
CA1746845 rs748198617	19	P>Q		No	ClinGen ExAC gnomAD
CA1746842 rs756035657	19	P>S		No	ClinGen ExAC TOPMed gnomAD
rs747435529 CA1746847	20	L>Q		No	ClinGen ExAC gnomAD
CA1746848 rs771399564	21	T>M		No	ClinGen ExAC TOPMed gnomAD
CA1746849 rs777318377	22	G>D		No	ClinGen ExAC gnomAD
rs1162159704 CA347559858	22	G>S		No	ClinGen gnomAD
CA1746851 rs143556907	24	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1746850 rs143556907	24	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA347559892 rs1458285741	24	R>W		No	ClinGen gnomAD
rs1394001413 CA347559899	25	A>T		No	ClinGen gnomAD
rs1558791050 CA347559915	26	G>S		No	ClinGen Ensembl
rs763722968 CA1746854	28	C>S		No	ClinGen ExAC gnomAD
CA1746855 rs773982329	29	E>V		No	ClinGen ExAC TOPMed gnomAD
rs761649181 CA1746856	30	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA347560019 rs1246107308	31	A>T		No	ClinGen gnomAD
rs767326924 CA1746857	31	A>V		No	ClinGen ExAC gnomAD
rs750166078 CA1746858	32	R>C		No	ClinGen ExAC gnomAD
rs1306271732 CA347560038	32	R>H		No	ClinGen TOPMed
CA1746859 rs756015962	33	S>R		No	ClinGen ExAC TOPMed gnomAD
CA347560076 rs1330602684	35	R>K		No	ClinGen TOPMed
CA347537080 rs1431637110	37	Y>S		No	ClinGen TOPMed
CA1746896 rs771776163	38	S>C		No	ClinGen ExAC gnomAD
CA347537089 rs771776163	38	S>F		No	ClinGen ExAC gnomAD
rs995617520 CA51331055	39	G>D		No	ClinGen Ensembl
rs1192028681 CA347537098	40	S>N		No	ClinGen TOPMed
CA51331071 rs750340177	42	T>A		No	ClinGen TOPMed gnomAD
CA347537114 rs1351026052	43	L>I		No	ClinGen gnomAD
CA1746899 rs139650319	43	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1349483408 CA347537126	45	K>E		No	ClinGen gnomAD
CA1746901 rs759577066	46	V>I		No	ClinGen ExAC TOPMed gnomAD
CA1746903 rs751700635	48	G>E		No	ClinGen ExAC gnomAD
CA1746902 rs765198594	48	G>R		No	ClinGen ExAC gnomAD
rs1419683267 CA347537159	50	D>A		No	ClinGen gnomAD
rs761969391 CA347537157	50	D>H		No	ClinGen ExAC TOPMed gnomAD
CA1746904 rs761969391	50	D>N		No	ClinGen ExAC TOPMed gnomAD
rs765775776 CA347537220	54	I>F		No	ClinGen ExAC TOPMed gnomAD
rs1430784258 CA347537224	54	I>T		No	ClinGen gnomAD
rs765775776 CA1746929	54	I>V		No	ClinGen ExAC TOPMed gnomAD
CA1746930 rs559767991	55	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA51331209 rs567267447	56	E>*		No	ClinGen TOPMed gnomAD
rs1399600840 CA347537269	56	E>G		No	ClinGen gnomAD
CA347537261 rs567267447	56	E>K		No	ClinGen TOPMed gnomAD
CA1746931 rs758854865	57	V>A		No	ClinGen ExAC gnomAD
CA347537328 rs1334176006	61	K>E		No	ClinGen gnomAD
CA347537371 COSM1023440 rs1360392478	62	K>N	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	63	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1315718253 CA347537402	64	T>I		No	ClinGen TOPMed
rs1315718253 CA347537399	64	T>S		No	ClinGen TOPMed
rs753736908 CA1746974	65	W>*		No	ClinGen ExAC
rs777373754 CA347537412	65	W>*		No	ClinGen ExAC gnomAD
CA1746932 rs777373754	65	W>S		No	ClinGen ExAC gnomAD
rs754701961 CA1746975	66	D>E		No	ClinGen ExAC
CA51333172 rs968942104	66	D>V		No	ClinGen TOPMed
CA1746976 rs377079759	67	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA347538202 rs1479443179	67	K>T		No	ClinGen TOPMed
rs772006261 CA1746978	68	V>L		No	ClinGen ExAC gnomAD
rs78436829 CA1746981	70	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370138236 CA347538224	71	L>F		No	ClinGen ESP gnomAD
rs370138236 CA51333212	71	L>I		No	ClinGen ESP gnomAD
CA51333214 rs1051932743	72	Q>L		No	ClinGen TOPMed
rs199979822 CA1746983	73	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA51333217 rs1044855810	73	A>S		No	ClinGen Ensembl
CA1746982 rs199979822	73	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1746984 rs768878149	75	A>G		No	ClinGen ExAC gnomAD
CA1746987 rs768065846	77	T>S		No	ClinGen ExAC gnomAD
CA347538261 rs1246171065	78	V>L		No	ClinGen TOPMed gnomAD
rs1294354390 CA347538267	79	N>D		No	ClinGen gnomAD
CA1746989 rs372392785	79	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs142907766 CA1746990	80	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	81	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs550730649 CA1747017	82	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs764057005 CA1747018	82	T>I		No	ClinGen ExAC gnomAD
CA1747019 rs751475527	83	T>I		No	ClinGen ExAC TOPMed gnomAD
CA1747020 rs757134491	84	A>T		No	ClinGen ExAC gnomAD
CA1747022 rs749319244	85	V>G		No	ClinGen ExAC gnomAD
CA347539341 rs1289745036	90	Q>P		No	ClinGen gnomAD
CA347539349 rs1366823799	91	D>G		No	ClinGen TOPMed
CA1747026 rs748567992	95	L>I		No	ClinGen ExAC gnomAD
CA51336600 rs368313640	96	M>T		No	ClinGen ESP TOPMed gnomAD
CA51336597 rs988293303	96	M>V		No	ClinGen gnomAD
rs200222766 CA1747027	97	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373966385 CA1747028	98	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1376292726 CA347539400	99	S>*		No	ClinGen TOPMed
CA1747031 rs776018448	100	S>P		No	ClinGen ExAC gnomAD
CA1747051 rs769323324	104	R>C		No	ClinGen ExAC gnomAD
rs200488670 CA1747052	104	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs144692560 CA1747054	105	S>L		No	ClinGen ESP ExAC TOPMed
TCGA novel	107	L>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1747055 rs768228667	108	L>P		No	ClinGen ExAC gnomAD
rs1472291005 CA347539468	108	L>V		No	ClinGen TOPMed gnomAD
CA347539471 rs1410793057	109	A>S		No	ClinGen TOPMed gnomAD
CA1747057 rs774141116	111	K>T		No	ClinGen ExAC gnomAD
CA1747060 rs750356869	113	G>E		No	ClinGen ExAC
CA1747059 rs376016106	113	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs760483402 CA1747061	118	K>N		No	ClinGen ExAC gnomAD
rs765392325 CA1747062	123	S>P		No	ClinGen ExAC gnomAD
CA347539586 rs1280845243	124	Y>*		No	ClinGen gnomAD
rs758708550 CA1747064	126	K>I		No	ClinGen ExAC gnomAD
rs758708550 CA1747065	126	K>R		No	ClinGen ExAC gnomAD
rs758708550 CA1747066	126	K>T		No	ClinGen ExAC gnomAD
rs1017871191 CA51337189	127	Y>C		No	ClinGen Ensembl
rs757610108 CA1747067	131	D>G		No	ClinGen ExAC gnomAD
CA347539680 rs1361352301	131	D>H		No	ClinGen gnomAD
CA1747068 rs757610108	131	D>V		No	ClinGen ExAC gnomAD
CA347539701 rs1437528717	132	I>M		No	ClinGen gnomAD
rs746407819 CA1747069	132	I>T		No	ClinGen ExAC gnomAD
CA1747070 rs770159654	133	A>G		No	ClinGen ExAC gnomAD
CA1747071 rs373496368	137	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs113346311 CA1747073	138	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1747072 rs748736451	138	P>S		No	ClinGen ExAC gnomAD
rs773073658 CA1747095	139	C>R		No	ClinGen ExAC gnomAD
CA51338416 rs932201043	140	L>S		No	ClinGen TOPMed
CA347540106 CA1747096 rs145202161	141	M>I		No	ClinGen ESP ExAC gnomAD
rs749836047 CA51338419	141	M>L		No	ClinGen TOPMed
CA347540097 rs749836047	141	M>V		No	ClinGen TOPMed
rs1203599900 CA347540129	143	E>G		No	ClinGen TOPMed
rs771060358 CA1747097	144	Y>C		No	ClinGen ExAC gnomAD
rs763172984 CA1747099	147	P>L		No	ClinGen ExAC gnomAD
rs1326191995 CA347540186	147	P>S		No	ClinGen gnomAD
rs764289068 CA1747100	149	I>M		No	ClinGen ExAC gnomAD
rs1558795657 CA347540215	149	I>T		No	ClinGen Ensembl
rs1342121618 CA347540222	150	K>E		No	ClinGen TOPMed
rs1275790730 CA347540254	152	I>V		No	ClinGen TOPMed
CA347540301 rs1573851018	155	A>V		No	ClinGen Ensembl
CA347540304 rs140431055	156	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1747103 rs140431055 COSM723000	156	A>T	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA1747104 rs750854104	157	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	158	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347540346 rs1430794122	159	E>A		No	ClinGen gnomAD
CA51338437 rs1004484292	160	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA347540370 rs1004484292	160	R>G		No	ClinGen TOPMed gnomAD
CA1747106 rs766908058	160	R>Q		No	ClinGen ExAC gnomAD
CA1747107 rs754367890	161	I>V		No	ClinGen ExAC gnomAD
CA1747109 rs755440448	163	L>P		No	ClinGen ExAC gnomAD
rs138459018 CA1747111	164	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1347488716 CA347540459	165	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1747112 rs758129112	166	V>I		No	ClinGen ExAC gnomAD
rs1260621467 CA347540507	167	K>R		No	ClinGen TOPMed gnomAD
CA347540517 rs1352124927	168	A>T		No	ClinGen gnomAD
CA347540562 rs192206378	170	V>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1747114 rs192206378	170	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770829111 CA1747115	171	D>G		No	ClinGen ExAC gnomAD
CA347540583 rs1490065713	171	D>H		No	ClinGen TOPMed gnomAD
CA347540588 rs1490065713	171	D>N		No	ClinGen TOPMed gnomAD
CA51338520 rs201357728	172	M>T		No	ClinGen 1000Genomes
rs1270353225 CA347540600	172	M>V		No	ClinGen gnomAD
CA1747118 rs149236941	178	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1747117 rs149236941	178	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1023592377 CA51338536	179	A>T		No	ClinGen TOPMed gnomAD
rs1251331033 CA347541439	180	G>E		No	ClinGen gnomAD
CA347541461 rs1558796507	181	T>I		No	ClinGen Ensembl
rs956600013 CA51340036	182	T>P		No	ClinGen Ensembl
CA1747137 rs779846579	183	V>L		No	ClinGen ExAC TOPMed gnomAD
rs779846579 CA347541486	183	V>M		No	ClinGen ExAC TOPMed gnomAD
CA1747138 rs760680182	185	L>F		No	ClinGen ExAC TOPMed gnomAD
rs764313009 CA51340054	185	L>P		No	ClinGen gnomAD
rs1170039472 CA347541530	187	T>A		No	ClinGen TOPMed
CA347541532 rs1388098356	187	T>I		No	ClinGen TOPMed gnomAD
rs772019861 CA1747139	188	T>A		No	ClinGen ExAC TOPMed gnomAD
CA347541541 rs1170037828	188	T>I		No	ClinGen gnomAD
rs1170037828 CA347541540	188	T>K		No	ClinGen gnomAD
rs1388305180 CA347541547	189	N>D		No	ClinGen TOPMed gnomAD
rs1373905355 CA347541550	189	N>S		No	ClinGen gnomAD
CA51340056 rs914892977	192	L>S		No	ClinGen Ensembl
CA347541581 rs1405918967	193	D>Y		No	ClinGen TOPMed gnomAD
rs760894757 CA1747141	194	L>F		No	ClinGen ExAC TOPMed gnomAD
rs551460460 CA1747145	197	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199583021 CA1747144	197	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs551460460 CA347541614	197	Y>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200261667 CA1747146	198	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1747147 rs200261667	198	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA51340151 rs11548649	200	D>G		No	ClinGen Ensembl
CA1747149 rs751046071	200	D>Y		No	ClinGen ExAC gnomAD
rs780974371 CA1747151	202	E>D		No	ClinGen ExAC gnomAD
CA1747152 rs750305612	204	S>L		No	ClinGen ExAC gnomAD
rs1485409614 CA347541674	205	T>A		No	ClinGen gnomAD
CA347541687 rs1280428411	206	D>G		No	ClinGen gnomAD
rs1186929724 CA347541684	206	D>Y		No	ClinGen TOPMed gnomAD
rs780085940 CA1747154	207	Y>D		No	ClinGen ExAC gnomAD
CA347541702 rs1352530481	208	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA347541709 rs1174280933	209	F>V		No	ClinGen gnomAD
CA51340182 rs150425965	213	G>A		No	ClinGen ESP TOPMed gnomAD
rs149555945 CA1747156	214	Q>*		No	ClinGen ESP ExAC gnomAD
CA347541753 rs1402534068	214	Q>R		No	ClinGen TOPMed
rs747082348 CA1747158	216	E>A		No	ClinGen ExAC TOPMed gnomAD
rs777732390 CA1747157	216	E>K		No	ClinGen ExAC TOPMed gnomAD
CA347541786 rs1189561611	218	L>S		No	ClinGen TOPMed
rs201641001 CA51341658	220	E>G		No	ClinGen 1000Genomes
rs747133480 CA1747178	220	E>K		No	ClinGen ExAC gnomAD
CA1747179 rs34118664	223	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA347541860 rs1397926041	225	T>A		No	ClinGen TOPMed
CA347541861 rs1397926041	225	T>S		No	ClinGen TOPMed
CA1747180 rs267599490	226	S>F		No	ClinGen ExAC TOPMed gnomAD
CA347541892 rs1553441209	227	R>G		No	ClinGen Ensembl
CA347541928 rs1490590418	230	A>T		No	ClinGen gnomAD
CA347541943 rs1231259149	231	G>D		No	ClinGen gnomAD
rs770070485 CA51341682	232	H>R		No	ClinGen Ensembl
CA347541959 rs1411699870	233	Q>*		No	ClinGen gnomAD
CA347541996 rs1573853598	236	V>I		No	ClinGen Ensembl
rs1375485178 CA347542012	237	T>I		No	ClinGen TOPMed
rs749650341 COSM1023441 CA1747185	239	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs140497362 CA1747186	239	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs760231243 CA1747211	240	A>G		No	ClinGen ExAC TOPMed gnomAD
CA1747213 rs770533864	241	K>E		No	ClinGen ExAC TOPMed gnomAD
rs199886711 CA1747214	242	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs75290041 CA51344266	243	N>K		No	ClinGen ExAC TOPMed gnomAD
rs375019928 CA1747218	244	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs139051130 CA347542831	244	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs139051130 CA1747216	244	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1747217 rs139051130 COSM284338	244	A>T	large_intestine Variant assessed as Somatic; 4.636e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA347542836 rs375019928	244	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	246	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1241139315 CA347542867	246	R>T		No	ClinGen gnomAD
rs764003986 CA1747219	247	I>L		No	ClinGen ExAC gnomAD
CA1747220 rs764003986	247	I>V		No	ClinGen ExAC gnomAD
rs369460544 CA1747222	248	F>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs369862583 CA51344314	252	P>L		No	ClinGen ESP
CA347542958 rs1177045921	253	E>*		No	ClinGen gnomAD
CA347542981 rs1338552109	254	K>E		No	ClinGen TOPMed
CA347543032 rs1398737327	257	H>D		No	ClinGen TOPMed gnomAD
CA1747226 rs376149979	259	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1452752466 CA347543057	259	Y>H		No	ClinGen TOPMed
rs547942938 CA1747227	260	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA347543106 rs1558797625	261	T>I		No	ClinGen Ensembl
CA347543110 rs1339310867	262	M>V		No	ClinGen TOPMed
rs1280116851 CA347543137	263	I>V		No	ClinGen gnomAD
rs772775803 CA1747228	264	R>*		No	ClinGen ExAC gnomAD
rs772775803 CA1747229	264	R>G		No	ClinGen ExAC gnomAD
CA1747230 rs146417982	264	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1000299074 CA51344355	265	G>A		No	ClinGen TOPMed gnomAD
rs903094176 CA51344350	265	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA347543248 rs775965382	267	V>L		No	ClinGen ExAC gnomAD
CA1747232 rs775965382	267	V>M		No	ClinGen ExAC gnomAD
rs768457917 CA1747255	269	H>N		No	ClinGen ExAC gnomAD
CA1747256 rs377585965	269	H>Q		No	ClinGen ESP ExAC gnomAD
CA347543412 rs1441309504	269	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs768457917 CA1747254	269	H>Y		No	ClinGen ExAC gnomAD
rs962491313 CA51344693	270	R>*		No	ClinGen TOPMed gnomAD
rs767346552 CA1747257	270	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA347543456 rs973687297	272	Y>*		No	ClinGen TOPMed
CA347543469 rs1389800090	273	E>D		No	ClinGen gnomAD
CA347543466 rs1393001641	273	E>G		No	ClinGen gnomAD
rs141454918 CA1747258	273	E>K		No	ClinGen ESP ExAC gnomAD
rs535770155 CA51344696	274	Q>E		No	ClinGen Ensembl
rs920804346 CA51344697	275	A>T		No	ClinGen Ensembl
CA1747260 rs201976222	279	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA51344701 rs772083948	279	Y>H		No	ClinGen Ensembl
CA51344715 rs559540878	280	T>A		No	ClinGen TOPMed
CA1747262 rs758654973	285	N>S		No	ClinGen ExAC gnomAD
rs764524672 CA1747263	288	H>R		No	ClinGen ExAC TOPMed gnomAD
rs751814538 CA1747264	289	A>T		No	ClinGen ExAC gnomAD
rs1299661599 CA347543737	290	D>N		No	ClinGen gnomAD
rs757529943 CA1747284	293	T>I		No	ClinGen ExAC gnomAD
rs1262489137 CA347543810	295	N>S		No	ClinGen gnomAD
rs768117568 CA1747285	296	A>V		No	ClinGen ExAC gnomAD
CA347543830 rs1227022993	298	I>T		No	ClinGen gnomAD
rs1426976562 CA347543868	304	A>T		No	ClinGen gnomAD
CA1747288 rs371088606	304	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1467600115 CA347543876	305	I>T		No	ClinGen gnomAD
rs1480203326 CA347543892	307	E>G		No	ClinGen TOPMed
CA1747290 rs748736643	311	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1174862260 CA347543919	311	E>K		No	ClinGen gnomAD
TCGA novel	312	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA51344925 rs971360227	312	K>Q		No	ClinGen Ensembl
rs1466862574 CA347543934	313	W>R		No	ClinGen gnomAD
CA1747291 rs754729476	314	S>I		No	ClinGen ExAC TOPMed gnomAD
CA347543945 rs754729476	314	S>N		No	ClinGen ExAC TOPMed gnomAD
rs778399936 CA347543953	315	K>I		No	ClinGen ExAC TOPMed gnomAD
rs778399936 CA1747292	315	K>T		No	ClinGen ExAC TOPMed gnomAD
rs367658233 CA1747295	317	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs552042768 CA1747311	319	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1573855515 CA347544659	321	R>S		No	ClinGen Ensembl
CA1747312 rs752323874	322	H>Y		No	ClinGen ExAC gnomAD
rs916260534 CA51345928	323	M>T		No	ClinGen gnomAD
rs1161613580 CA347544692	324	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1747313 rs758006626	325	A>T		No	ClinGen ExAC gnomAD
rs777727367 CA1747314	326	Q>*		No	ClinGen ExAC gnomAD
CA347544746 rs187729126	327	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746789934 CA347544743	327	K>R		No	ClinGen ExAC TOPMed gnomAD
CA1747315 rs746789934	327	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1747318 rs749430810	328	V>A		No	ClinGen ExAC gnomAD
rs781242280 CA1747317	328	V>L		No	ClinGen ExAC gnomAD
rs372256673 CA1747320	330	P>L		No	ClinGen ESP ExAC gnomAD
rs923708070 CA51346001	331	N>D		No	ClinGen TOPMed
rs1476838706 CA347544801	331	N>S		No	ClinGen TOPMed
TCGA novel	331	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs934865968 CA51346009	334	T>S		No	ClinGen Ensembl
rs761944701 CA1747322	336	N>I		No	ClinGen ExAC gnomAD
rs761944701 CA1747323	336	N>S		No	ClinGen ExAC gnomAD
rs202041838 CA51346022	338	I>V		No	ClinGen TOPMed gnomAD
CA1747324 rs555565602	340	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1480601821 CA347544939	341	C>*		No	ClinGen gnomAD
CA1747325 rs760999013	341	C>R		No	ClinGen ExAC gnomAD
rs1480601821 CA347544938	341	C>W		No	ClinGen gnomAD
rs766922139 CA1747326	342	L>V		No	ClinGen ExAC TOPMed gnomAD
CA51346037 rs1049944266	343	R>*		No	ClinGen TOPMed gnomAD
COSM1409818 rs150201086 CA1747327	343	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA51346039 rs889787203	344	R>K		No	ClinGen gnomAD
CA347544966 rs1162511392	345	F>C		No	ClinGen gnomAD
CA1747328 rs760049086	346	H>D		No	ClinGen ExAC TOPMed gnomAD
rs752197680 CA347544971	346	H>P		No	ClinGen ExAC TOPMed gnomAD
rs752197680 CA1747330	346	H>R		No	ClinGen ExAC TOPMed gnomAD
CA1747329 rs760049086	346	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA1747331 rs758047204	348	F>L		No	ClinGen ExAC gnomAD
rs777565877 CA347545005	351	S>L		No	ClinGen ExAC TOPMed gnomAD
CA1747332 rs777565877	351	S>W		No	ClinGen ExAC TOPMed gnomAD
rs1573855600 CA347545013	353	A>P		No	ClinGen Ensembl
rs781082336 CA1747335	355	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA51346106 rs138830850	355	Q>H		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs781082336 CA347545025	355	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA1747336 rs577965556	358	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756013192 CA1747337	358	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1747338 rs778871875	359	E>K		No	ClinGen ExAC gnomAD
rs753982668 CA51346130	360	M>R		No	ClinGen Ensembl
CA347545073 rs1270983692	362	A>S		No	ClinGen gnomAD
CA1747340 rs149290208	363	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1260602260 CA347545095	365	I>M		No	ClinGen gnomAD
rs1477857878 CA347545118	367	P>S		No	ClinGen gnomAD
rs1477857878 CA347545116	367	P>T		No	ClinGen gnomAD
CA1747363 rs201126831	368	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	369	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347545133 rs1172907115	370	A>T		No	ClinGen gnomAD
rs1427790128 CA347545138	370	A>V		No	ClinGen TOPMed
rs1048508425 CA51346655	374	H>N		No	ClinGen TOPMed gnomAD
CA51346661 rs528135129	376	I>V		No	ClinGen TOPMed
CA1747366 rs573871763	377	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1747367 rs769046054	377	R>H		No	ClinGen ExAC TOPMed gnomAD
rs769046054 CA51346671	377	R>L		No	ClinGen ExAC TOPMed gnomAD
rs148438138 CA1747369	379	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1747370 rs767184726	381	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA347545204 rs767184726	381	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs750251126 CA1747371	382	P>A		No	ClinGen ExAC gnomAD
CA347545215 rs1347537574	382	P>L		No	ClinGen gnomAD
TCGA novel	382	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs34866009 CA1747394	384	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759531546 CA1747393	384	D>N		No	ClinGen ExAC gnomAD
CA347546008 rs1367116933	385	P>L		No	ClinGen TOPMed
rs1484316350 CA347546064	388	R>K		No	ClinGen gnomAD
CA51348799 rs751680698 CA347546087	389	S>*		No	ClinGen ExAC TOPMed gnomAD
rs751680698 CA1747395	389	S>L		No	ClinGen ExAC TOPMed gnomAD
rs374510370 CA1747396	391	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1747397 rs781080943	392	I>V		No	ClinGen ExAC gnomAD
CA1747398 rs750686725	393	I>T		No	ClinGen ExAC gnomAD
rs140559951 CA347546171	395	D>H		No	ClinGen 1000Genomes TOPMed gnomAD
rs140559951 CA1747399	395	D>N		No	ClinGen 1000Genomes TOPMed gnomAD
CA1747401 rs150045544	395	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749655664 CA1747403	396	I>T		No	ClinGen ExAC TOPMed gnomAD
CA347546227 COSM3963183 rs1176784125 COSM1023445	397	M>I	lung Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA347546252 rs1378080501	399	E>Q		No	ClinGen gnomAD
CA347546325 rs1312464094	401	M>T		No	ClinGen gnomAD
CA1747404 rs769353113	402	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1337308456 CA347546403	405	F>V		No	ClinGen gnomAD
TCGA novel	408	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1747406 rs747708923	409	D>H		No	ClinGen ExAC
CA1747407 rs771644497	409	D>V		No	ClinGen ExAC gnomAD
CA1747408 rs377530431	410	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1216572896 CA347546546	412	D>Y		No	ClinGen TOPMed
rs564514481 CA1747428	413	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1254269280 CA347546563	413	D>N		No	ClinGen gnomAD
CA1747429 rs777401076	414	K>N		No	ClinGen ExAC
CA1747430 rs146203968	417	Q>H		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs1558799528	417	Q>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs776247172 CA1747432	419	A>V		No	ClinGen ExAC gnomAD
CA1747433 rs745477873	420	M>V		No	ClinGen ExAC gnomAD
CA347546758 rs1457858994	421	S>G		No	ClinGen TOPMed
CA347546772 rs1369491410	421	S>R		No	ClinGen TOPMed
CA1747452 rs778115545	424	S>L		No	ClinGen ExAC gnomAD
CA347547417 rs1267344029	424	S>P		No	ClinGen gnomAD
rs187785570 CA1747456	427	R>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1384145783 CA347547461	428	D>H		No	ClinGen TOPMed
CA347547478 rs1418744042	429	L>V		No	ClinGen gnomAD
rs112853285 CA51350209	431	L>P		No	ClinGen Ensembl
CA1747459 rs775408904	432	A>D		No	ClinGen ExAC gnomAD
CA1747458 rs769376151 COSM722997	432	A>T	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1175188013 CA347547540	433	Y>*		No	ClinGen gnomAD
CA347547541 rs1336313009	434	Q>E		No	ClinGen TOPMed
rs749029269 CA1747461	435	V>A		No	ClinGen ExAC
rs1292865762 CA347547560	435	V>L		No	ClinGen gnomAD
CA1747463 rs375042597	436	H>P		No	ClinGen ExAC TOPMed gnomAD
CA1747462 rs375042597	436	H>R		No	ClinGen ExAC TOPMed gnomAD
rs368312294 CA1747465	437	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	438	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1239662296 CA347547647	440	K>Q		No	ClinGen gnomAD
rs1194992476 CA347547679	441	T>N		No	ClinGen TOPMed
rs200147987 CA1747468	442	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1219537126 CA347547736	444	N>K		No	ClinGen gnomAD
rs149493782 CA1747469	446	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA1747471 rs146178520	447	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1747470 rs145956550	447	F>Y		No	ClinGen ESP ExAC gnomAD
CA1747473 rs201642425	448	I>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1747472 rs201642425	448	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA51350298 rs867825648	450	P>L		No	ClinGen Ensembl
CA347547850 rs1178834650	451	D>E		No	ClinGen gnomAD
CA51350308 rs957161702	452	Q>E		No	ClinGen gnomAD
CA1747476 rs375762783	452	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA347547888 rs1271140251	453	H>R		No	ClinGen TOPMed
rs779541176 CA1747478	454	R>C		No	ClinGen ExAC TOPMed gnomAD
rs768356879 CA1747479	454	R>H		No	ClinGen ExAC TOPMed gnomAD
rs779541176 CA1747477	454	R>S		No	ClinGen ExAC TOPMed gnomAD
CA347547915 rs1329282672	455	N>S		No	ClinGen gnomAD
rs1558799976 CA347547942	456	F>C		No	ClinGen Ensembl
CA1747480 rs200807149 COSM284339	456	F>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA1747481 rs148378080	457	Y>C		No	ClinGen 1000Genomes ESP ExAC gnomAD
TCGA novel	460	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA51350894 rs1053155822	460	K>Q		No	ClinGen Ensembl
CA347548149 rs1222532323	460	K>R		No	ClinGen gnomAD
rs754590876 CA1747496	462	F>L		No	ClinGen ExAC gnomAD
rs1248245105 CA347548224	463	D>G		No	ClinGen TOPMed gnomAD
rs778632544 CA1747497	463	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1363324077 CA347548322	469	E>K		No	ClinGen TOPMed
rs151100815 CA1747499	471	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA1747500 rs777833765	473	V>I		No	ClinGen ExAC TOPMed gnomAD
CA51350945 rs993162287	474	T>I		No	ClinGen TOPMed
CA51350962 rs112063860	476	K>E		No	ClinGen Ensembl
CA1747501 rs746897836	477	W>*		No	ClinGen ExAC TOPMed gnomAD
rs769800860 CA1747502	478	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1573858620 CA347548536	481	L>P		No	ClinGen Ensembl
rs1002570687 CA51350979	482	I>T		No	ClinGen TOPMed
CA347548552 rs1485306357	482	I>V		No	ClinGen TOPMed
TCGA novel	483	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347548683 rs1573858680	485	A>V		No	ClinGen Ensembl
rs1190678146 CA347548696	486	Y>C		No	ClinGen TOPMed
CA347548758 rs1427700785	489	H>R		No	ClinGen TOPMed
CA1747520 COSM1130731 rs369504418	493	M>I	prostate [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA51351034 rs889580420	493	M>V		No	ClinGen Ensembl
rs1434754204 CA347548866	494	I>L		No	ClinGen TOPMed gnomAD
CA347548886 rs1172960817	495	H>R		No	ClinGen gnomAD
rs757164117 CA1747521	496	L>V		No	ClinGen ExAC gnomAD
CA347548917 rs1436854085	497	L>F		No	ClinGen TOPMed gnomAD
rs777055180 CA1747522	499	A>P		No	ClinGen ExAC TOPMed gnomAD
rs749377660 CA1747524 COSM1185957	502	V>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs749377660 CA1747523	502	V>M		No	ClinGen ExAC gnomAD
rs1346258791 CA347549040	503	A>V		No	ClinGen TOPMed
rs762026012 CA1747525	504	N>S		No	ClinGen ExAC TOPMed gnomAD
CA1747527 rs199858981	505	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1747526 rs373670628	505	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs773499474 CA1747528	506	L>P		No	ClinGen ExAC gnomAD
CA347549126 rs761098417	507	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1747529 rs761098417	507	E>K		No	ClinGen ExAC TOPMed gnomAD
CA347549163 rs1573858734	508	V>G		No	ClinGen Ensembl
CA1747530 rs766906626	508	V>L		No	ClinGen ExAC gnomAD
rs1341462739 CA347549177	509	I>F		No	ClinGen gnomAD
TCGA novel	510	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	512	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1747552 rs777218738	515	D>E		No	ClinGen ExAC gnomAD
TCGA novel	515	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347549357 rs1420729194	516	S>N		No	ClinGen gnomAD
CA51351711 rs990437521	522	T>S		No	ClinGen TOPMed gnomAD
CA347549400 rs1246889793	522	T>S		No	ClinGen gnomAD
rs914945879 CA51351712	523	F>L		No	ClinGen TOPMed gnomAD
CA51351713 rs200794298	524	R>C		No	ClinGen TOPMed
CA1747555 rs147045229	524	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA1747554 rs147045229	524	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA347549414 rs1400525352	525	S>G		No	ClinGen gnomAD
rs370682129 CA51351723	526	D>N		No	ClinGen ESP
CA51351729 rs1042703303	527	L>V		No	ClinGen TOPMed
rs1331850214 CA347549443	529	E>G		No	ClinGen TOPMed gnomAD
CA347549439 rs1392798154	529	E>K		No	ClinGen gnomAD
CA1747556 rs762755973	531	I>F		No	ClinGen ExAC TOPMed gnomAD
CA347549455 rs762755973	531	I>L		No	ClinGen ExAC TOPMed gnomAD
CA1747557 rs763831005	531	I>M		No	ClinGen ExAC gnomAD
CA347549475 rs1315990319	534	L>V		No	ClinGen gnomAD
CA347549483 rs1573859238	535	M>R		No	ClinGen Ensembl
rs767164991 CA1747560	535	M>V		No	ClinGen ExAC gnomAD
CA1747561 rs750404265	536	A>S		No	ClinGen ExAC gnomAD
CA1747563 rs778977632	537	R>S		No	ClinGen ExAC gnomAD
rs1441903944 CA347549509	539	K>E		No	ClinGen gnomAD
CA347549512 rs1573859249	539	K>N		No	ClinGen Ensembl
rs374063160 CA51351791	539	K>R		No	ClinGen ESP
rs1391817702 CA347549515	540	H>D		No	ClinGen TOPMed
rs1573859250 CA347549517	540	H>P		No	ClinGen Ensembl
TCGA novel	543	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1747593 rs140399801	545	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768310902 CA1747594	546	V>A		No	ClinGen ExAC gnomAD
TCGA novel	546	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347549601 rs1330695252	551	C>R		No	ClinGen gnomAD
rs1052160799 CA51352302	554	D>A		No	ClinGen TOPMed gnomAD
CA1747598 rs368506516	555	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA347549634 rs1252926901	556	K>E		No	ClinGen TOPMed
CA347549636 rs760441055	556	K>I		No	ClinGen ExAC gnomAD
rs760441055 CA1747600	556	K>T		No	ClinGen ExAC gnomAD
rs1267078255 CA347549643	557	S>F		No	ClinGen gnomAD
TCGA novel	557	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1747601 rs766113902	558	A>V		No	ClinGen ExAC TOPMed gnomAD
rs867186044 CA51352327	559	Y>C		No	ClinGen Ensembl
rs1558800695 CA347549658	560	E>K		No	ClinGen Ensembl
CA51352334 rs1047753065	562	Q>R		No	ClinGen TOPMed
rs555681860 CA51352360	563	P>L		No	ClinGen 1000Genomes
rs1389789798 CA347549687	564	I>V		No	ClinGen TOPMed gnomAD
rs1286428151 CA347549702	566	Q>*		No	ClinGen TOPMed
CA51352363 rs1010581064 CA347549706	566	Q>H		No	ClinGen gnomAD
rs1021764829 CA51352369	567	T>S		No	ClinGen gnomAD
rs1346855185 CA347549717	568	A>V		No	ClinGen gnomAD
rs1573859527 CA347549741	571	W>C		No	ClinGen Ensembl
rs868712003 CA51352375	572	P>S		No	ClinGen Ensembl
CA347549759 rs1319059342	574	T>I		No	ClinGen gnomAD
TCGA novel	576	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1747607 rs757571161	576	L>P		No	ClinGen ExAC gnomAD
rs750863432 CA1747609	577	N>S		No	ClinGen ExAC gnomAD
rs1035110713 CA51352406	578	C>G		No	ClinGen TOPMed
rs756567130 CA1747610	578	C>Y		No	ClinGen ExAC gnomAD
CA1747611 rs573746603	579	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1219963552 CA347549798	581	I>F		No	ClinGen TOPMed gnomAD
rs1219963552 COSM3669006 CA347549799	581	I>V	liver [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA51352416 rs1011920487	592	A>G		No	ClinGen TOPMed
rs534855357 CA1747614	593	W>L		No	ClinGen 1000Genomes ExAC gnomAD
CA1747613 rs755381620	593	W>R		No	ClinGen ExAC gnomAD
rs1000824186 CA51353442	595	M>V		No	ClinGen TOPMed gnomAD
rs1481344553 CA347551098	596	L>S		No	ClinGen TOPMed
rs766971001 CA1747677	597	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1334843632 CA347551154	604	K>E		No	ClinGen TOPMed
rs1558801230 CA347551169	606	P>T		No	ClinGen Ensembl
rs750045331 CA1747679	607	R>G		No	ClinGen ExAC TOPMed gnomAD
CA1747680 rs755730948	607	R>T		No	ClinGen ExAC gnomAD
CA51353775 rs72839327	611	L>M		No	ClinGen 1000Genomes gnomAD
CA1747696 rs767030529	612	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1357018824 CA347551224	613	E>K		No	ClinGen TOPMed
CA347551243 rs1250914594	615	M>R		No	ClinGen gnomAD
rs1390336008 CA347551256	617	S>G		No	ClinGen TOPMed
rs749938118 CA1747697	617	S>N		No	ClinGen ExAC TOPMed gnomAD
rs749938118 CA347551258	617	S>T		No	ClinGen ExAC TOPMed gnomAD
CA51353784 rs774838991	619	K>E		No	ClinGen Ensembl
rs201724046 CA1747699	621	S>C		No	ClinGen 1000Genomes ExAC TOPMed
rs201724046 CA1747698	621	S>F		No	ClinGen 1000Genomes ExAC TOPMed
rs201724046 CA51353794	621	S>Y		No	ClinGen 1000Genomes ExAC TOPMed
TCGA novel	623	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1485414069 CA347551313	626	Q>*		No	ClinGen TOPMed gnomAD
rs1259906815 CA347551330	628	I>T		No	ClinGen TOPMed
CA347551326 rs1260311818	628	I>V		No	ClinGen TOPMed gnomAD
CA1747703 rs754843408	629	E>G		No	ClinGen ExAC gnomAD
CA347551333 rs1427038474	629	E>K		No	ClinGen gnomAD
TCGA novel	630	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778783083 CA1747705	630	V>I		No	ClinGen ExAC gnomAD
CA1747704 rs778783083	630	V>L		No	ClinGen ExAC gnomAD
CA347551344 rs1463227128	631	V>I		No	ClinGen gnomAD
rs200786483 CA51353855	633	L>P		No	ClinGen 1000Genomes
CA347551368 rs1437322281	635	S>G		No	ClinGen TOPMed
rs1171403727 CA347551377	636	A>P		No	ClinGen TOPMed gnomAD
rs1171403727 CA347551376	636	A>T		No	ClinGen TOPMed gnomAD
rs144692694 CA1747707	640	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1747709 rs541820007	641	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs749467113 CA1747711	646	T>I		No	ClinGen ExAC TOPMed gnomAD
CA1747712 rs373005797	647	Q>H		No	ClinGen ESP ExAC gnomAD
rs774643469 CA1747713	648	R>G		No	ClinGen ExAC TOPMed gnomAD
CA51353881 rs936742608	650	M>L		No	ClinGen Ensembl
rs762367287 CA1747714	651	S>I		No	ClinGen ExAC gnomAD
rs1558801416 CA347551486	652	D>G		No	ClinGen Ensembl
rs768066297 CA1747716	655	I>V		No	ClinGen ExAC TOPMed gnomAD
CA347551511 rs1233724738	656	N>H		No	ClinGen TOPMed
CA1747717 rs760169791	656	N>S		No	ClinGen ExAC TOPMed gnomAD
CA347551522 rs1283015345	657	Q>R		No	ClinGen gnomAD
rs966711291 CA51354037	660	K>N		No	ClinGen TOPMed
TCGA novel	664	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1238928323 CA347551587	665	N>H		No	ClinGen gnomAD
rs1235343030 CA347551591	665	N>S		No	ClinGen gnomAD
CA347551633 rs1405135522	672	D>N		No	ClinGen TOPMed gnomAD
rs79465176 CA347551642	673	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs548026987 CA1747735	673	S>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs79465176 CA1747734	673	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773791623 CA1747736	674	D>N		No	ClinGen ExAC gnomAD
rs1558801560 CA347551650	674	D>V		No	ClinGen Ensembl
rs1393965992 CA347551664	676	D>G		No	ClinGen gnomAD
CA347551670 rs1441873819	677	S>G		No	ClinGen TOPMed gnomAD
rs1371254331 CA347551688	679	S>N		No	ClinGen gnomAD
VAR_035155 CA1747740 rs2241433	681	S>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs144366369 CA1747741	682	D>N		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs1231803456 CA347551726	683	S>G		No	ClinGen gnomAD
rs538409923 CA51354104	683	S>R		No	ClinGen 1000Genomes TOPMed gnomAD
CA1747743 rs144788771	684	D>G		No	ClinGen ESP ExAC gnomAD
rs1272911898 CA347551735	684	D>N		No	ClinGen gnomAD
CA1747745 rs373101457	685	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA347551772 rs1000930679	686	S>R		No	ClinGen TOPMed gnomAD
rs974823235 CA51354113	686	S>R		No	ClinGen Ensembl
rs1573860938 CA347551789	687	E>D		No	ClinGen Ensembl
TCGA novel	690	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1747746 rs376354484	690	K>S		No	ClinGen ESP ExAC TOPMed gnomAD

1 associated diseases with Q96EY7

[MIM: 619057]: Combined oxidative phosphorylation deficiency 51 (COXPD51)

An autosomal recessive, mitochondrial disorder characterized by intrauterine growth retardation, low birth weight, poor overall growth, progressive limb rigidity, delayed psychomotor development, hearing loss, and optic atrophy. Brain imaging shows abnormal bilateral signs at the basal ganglia and brainstem. Patient cells show decreased mitochondrial complex I and IV levels and activities, and generalized mitochondrial translation defects. {ECO:0000269|PubMed:30607703}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive, mitochondrial disorder characterized by intrauterine growth retardation, low birth weight, poor overall growth, progressive limb rigidity, delayed psychomotor development, hearing loss, and optic atrophy. Brain imaging shows abnormal bilateral signs at the basal ganglia and brainstem. Patient cells show decreased mitochondrial complex I and IV levels and activities, and generalized mitochondrial translation defects. {ECO:0000269|PubMed:30607703}. Note=The disease may be caused by variants affecting the gene represented in this entry.

2 regional properties for Q96EY7

Type	Name	Position	InterPro Accession
repeat	Pentatricopeptide repeat	254 - 300	IPR002885-1
repeat	Pentatricopeptide repeat	331 - 379	IPR002885-2

Functions

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

6 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
mitochondrial inner membrane	The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae.
mitochondrial small ribosomal subunit	The smaller of the two subunits of a mitochondrial ribosome.
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.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

3 GO annotations of molecular function

Name	Definition
ribosomal small subunit binding	Binding to a small ribosomal subunit.
RNA binding	Binding to an RNA molecule or a portion thereof.
rRNA binding	Binding to a ribosomal RNA.

2 GO annotations of biological process

Name	Definition
mitochondrial translation	The chemical reactions and pathways resulting in the formation of a protein in a mitochondrion. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein; the mitochondrion has its own ribosomes and transfer RNAs, and uses a genetic code that differs from the nuclear code.
regulation of translation	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q14C51	Ptcd3	Pentatricopeptide repeat domain-containing protein 3, mitochondrial	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAVVSAVRWL	GLRSRLGQPL	TGRRAGLCEQ	ARSCRFYSGS	ATLSKVEGTD	VTGIEEVVIP
70	80	90	100	110	120
KKKTWDKVAV	LQALASTVNR	DTTAVPYVFQ	DDPYLMPASS	LESRSFLLAK	KSGENVAKFI
130	140	150	160	170	180
INSYPKYFQK	DIAEPHIPCL	MPEYFEPQIK	DISEAALKER	IELRKVKASV	DMFDQLLQAG
190	200	210	220	230	240
TTVSLETTNS	LLDLLCYYGD	QEPSTDYHFQ	QTGQSEALEE	ENDETSRRKA	GHQFGVTWRA
250	260	270	280	290	300
KNNAERIFSL	MPEKNEHSYC	TMIRGMVKHR	AYEQALNLYT	ELLNNRLHAD	VYTFNALIEA
310	320	330	340	350	360
TVCAINEKFE	EKWSKILELL	RHMVAQKVKP	NLQTFNTILK	CLRRFHVFAR	SPALQVLREM
370	380	390	400	410	420
KAIGIEPSLA	TYHHIIRLFD	QPGDPLKRSS	FIIYDIMNEL	MGKRFSPKDP	DDDKFFQSAM
430	440	450	460	470	480
SICSSLRDLE	LAYQVHGLLK	TGDNWKFIGP	DQHRNFYYSK	FFDLICLMEQ	IDVTLKWYED
490	500	510	520	530	540
LIPSAYFPHS	QTMIHLLQAL	DVANRLEVIP	KIWKDSKEYG	HTFRSDLREE	ILMLMARDKH
550	560	570	580	590	600
PPELQVAFAD	CAADIKSAYE	SQPIRQTAQD	WPATSLNCIA	ILFLRAGRTQ	EAWKMLGLFR
610	620	630	640	650	660
KHNKIPRSEL	LNELMDSAKV	SNSPSQAIEV	VELASAFSLP	ICEGLTQRVM	SDFAINQEQK
670	680
EALSNLTALT	SDSDTDSSSD	SDSDTSEGK