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	Gene Summary
	Translation studies in PubMed
	Exon Skipping Events
	Expression
	Expression Regulation
	Associated Genes
	Protein 3D Structure
	Protein-Protein Interaction
	Mutations
	Prognostic Analysis
	Gender Association
	Age Association
	Related Drugs
	Related Diseases

Translation Factor: LRPPRC (NCBI Gene ID:10128)

Gene Summary

Gene Summary

Gene Information	Gene Name: LRPPRC
	Gene ID: 10128
	Gene Symbol	LRPPRC
	Gene ID	10128
	Gene Name	leucine rich pentatricopeptide repeat containing
	Synonyms	CLONE-23970\|GP130\|LRP130\|LSFC
	Cytomap	2p21
	Type of Gene	protein-coding
	Description	leucine-rich PPR motif-containing protein, mitochondrial130 kDa leucine-rich proteinLRP 130leucine-rich PPR-motif containingmitochondrial leucine-rich PPR motif-containing protein
	Modification date	20200329
	UniProtAcc	P42704

Child GO biological process term(s) under GO:0006412

GO ID	GO term
GO:0006417	Regulation of translation
GO:0032543	Mitochondrial translation
GO:0006412	Translation

Gene ontology of translaction factor with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner

Gene

GO ID

GO term

PubMed ID

Inferred gene age of translation factor.

Gene	Inferred gene age group among (0 - 67.6], (67.6 - 355.7], (355.7 - 733], (733 - 1119.25], >1119.25
LRPPRC	(733 - 1119.25]

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Translation Studies in PubMed

We searched PubMed using 'LRPPRC[title] AND translation [title] AND human.'

Gene	Title	PMID
LRPPRC	LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs	22045337

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Exon Skipping Events

Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
For more annotations, please visit our ExonSkipDB.

Open reading frame (ORF) analsis of exon skipping events based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

ENST	Exon skip start (DNA)	Exon Skip end (DNA)	ORF
ENST00000260665	44123772	44123847	In-frame
ENST00000260665	44126604	44126744	Frame-shift
ENST00000260665	44139570	44139697	Frame-shift
ENST00000260665	44145163	44145272	Frame-shift
ENST00000260665	44172470	44172556	Frame-shift
ENST00000260665	44174395	44174509	In-frame
ENST00000260665	44174869	44174914	In-frame
ENST00000260665	44204132	44204191	Frame-shift

Exon skipping position in the amino acid sequence.

ENST	Exon skip start (DNA)	Exon Skip end (DNA)	Len(transcript seq)	Exon skip start (mRNA)	Exon Skip end (mRNA)	Len(amino acid seq)	Exon skip start (AA)	Exon Skip end (AA)
ENST00000260665	44123772	44123847	6352	3884	3958	1394	1275	1300
ENST00000260665	44174395	44174509	6352	2024	2137	1394	655	693
ENST00000260665	44174869	44174914	6352	1979	2023	1394	640	655

Potentially (partially) lost protein functional features of UniProt.

UniProtAcc	Exon skip start (AA)	Exon Skip end (AA)	Function feature start (AA)	Function feature end (AA)	Functional feature type	Functional feature desc.
P42704	640	655	60	1394	Chain	ID=PRO_0000084467;Note=Leucine-rich PPR motif-containing protein%2C mitochondrial
P42704	655	693	60	1394	Chain	ID=PRO_0000084467;Note=Leucine-rich PPR motif-containing protein%2C mitochondrial
P42704	1275	1300	60	1394	Chain	ID=PRO_0000084467;Note=Leucine-rich PPR motif-containing protein%2C mitochondrial
P42704	655	693	678	709	Repeat	Note=PPR 9
P42704	1275	1300	1121	1394	Region	Note=RNA-binding
P42704	640	655	648	648	Sequence conflict	Note=S->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
P42704	655	693	676	676	Sequence conflict	Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305

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Expression

Gene expression level across TCGA pancancer

Gene expression level across GTEx pantissue

Expression level of gene isoforms across TCGA pancancer

Expression level of gene isoforms across GTEx pantissue

Cancer(tissue) type-specific expression level of Translation factor using z-score distriution

Differential expression between tumor and matched normal (in the cancer types with more than 10 matched samples)

Cancer type	Translation factor	FC	adj.pval
BRCA	LRPPRC	1.01301203198778	0.00135082071056631
PRAD	LRPPRC	-3.12366984674671	0.00361804803128602
KIRP	LRPPRC	-1.86182149887425	0.0216239951550961
READ	LRPPRC	1.69000859845838	0.03125
LUAD	LRPPRC	-2.88690888240574	2.06541148982154e-09
KIRC	LRPPRC	-2.46850203122582	2.81176802000473e-08

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Expression Regulation

Translation factor expression regulation through miRNA binding

Cancer type

Gene

miRNA

TargetScan binding score (Context++ score percentile)

Coefficient

Pvalue

Translation factor expression regulation through methylation in the promoter of Translation factor

Cancer type

Gene

methyl group b

methyl group a

DEG pval

avg methyl in b

avg methyl in a

avg exp in b

avg exp in a

Translation factor expression regulation through methylation in the gene body of Translation factor (positive regulation)

Cancer type

Gene

methyl group b

methyl group a

DEG pval

avg methyl in b

avg methyl in a

avg exp in b

avg exp in a

Translation factor expression regulation through copy number variation of Translation factor

Cancer type

Gene

Coefficient

Pvalue

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Associated Genes

Strongly correlated genes belong to cellular important gene groups with LRPPRC (coefficient>0.8, pval<0.05, node color based on FC between tumor and matched normal). Significantly associated important genes in the individual cancer types. * Cell metabolism gene: cell metabolism genes from REACTOME (black edge), IUPHAR: drug target genes from IUPHAR (blue edge), Kinase: human kinase genes (brown edge), CGC: cancer gene census genes (orange edge), TSG: tumor suppresor genes (purple edge), Epifactor: epigenetic factors (light blue edge), TF: transcription factors (green)

Cancer type	Gene group	Translation factor	Correlated gene	Coefficient	Pvalue
LAML	Cell metabolism gene	LRPPRC	PAICS	0.800029032	8.70E-40
LAML	Cell metabolism gene	LRPPRC	EPRS	0.826364361	1.66E-44
LAML	TF	LRPPRC	CEBPZ	0.803841113	2.00E-40
LAML	TSG	LRPPRC	ANAPC1	0.813179258	4.75E-42
TGCT	CGC	LRPPRC	TET1	0.806187054	6.29E-37
TGCT	CGC	LRPPRC	MSH2	0.833082525	1.92E-41
TGCT	CGC	LRPPRC	MSH6	0.84582267	7.13E-44
TGCT	Epifactor	LRPPRC	TET1	0.806187054	6.29E-37
TGCT	Epifactor	LRPPRC	MSH6	0.84582267	7.13E-44
TGCT	TF	LRPPRC	TET1	0.806187054	6.29E-37
TGCT	TSG	LRPPRC	MSH2	0.833082525	1.92E-41
UVM	Cell metabolism gene	LRPPRC	NUP107	0.800332448	5.24E-19
UVM	Cell metabolism gene	LRPPRC	HMGCR	0.800353462	5.22E-19
UVM	Cell metabolism gene	LRPPRC	PIK3C3	0.80113139	4.55E-19
UVM	Cell metabolism gene	LRPPRC	AASDHPPT	0.803352243	3.07E-19
UVM	Cell metabolism gene	LRPPRC	L2HGDH	0.803782171	2.85E-19
UVM	Cell metabolism gene	LRPPRC	SACM1L	0.806982204	1.60E-19
UVM	Cell metabolism gene	LRPPRC	CLOCK	0.809767696	9.61E-20
UVM	Cell metabolism gene	LRPPRC	PNPLA8	0.810847969	7.87E-20
UVM	Cell metabolism gene	LRPPRC	PIKFYVE	0.811926145	6.43E-20
UVM	Cell metabolism gene	LRPPRC	DIS3	0.81204973	6.29E-20
UVM	Cell metabolism gene	LRPPRC	PSMC6	0.813048282	5.21E-20
UVM	Cell metabolism gene	LRPPRC	SUCLG2	0.813679287	4.63E-20
UVM	Cell metabolism gene	LRPPRC	GXYLT1	0.814692144	3.82E-20
UVM	Cell metabolism gene	LRPPRC	NUP50	0.817570708	2.20E-20
UVM	Cell metabolism gene	LRPPRC	SRP72	0.818334253	1.90E-20
UVM	Cell metabolism gene	LRPPRC	CCT2	0.818664846	1.78E-20
UVM	Cell metabolism gene	LRPPRC	MED17	0.823592683	6.71E-21
UVM	Cell metabolism gene	LRPPRC	PPP1CB	0.82610252	4.04E-21
UVM	Cell metabolism gene	LRPPRC	GPAM	0.831217659	1.40E-21
UVM	Cell metabolism gene	LRPPRC	PPAT	0.831880479	1.21E-21
UVM	Cell metabolism gene	LRPPRC	AGPS	0.833340735	8.90E-22
UVM	Cell metabolism gene	LRPPRC	XPO1	0.839610343	2.26E-22
UVM	Cell metabolism gene	LRPPRC	RANBP2	0.879796089	6.54E-27
UVM	CGC	LRPPRC	STAG1	0.803650203	2.91E-19
UVM	CGC	LRPPRC	RAD17	0.804031634	2.72E-19
UVM	CGC	LRPPRC	N4BP2	0.804813644	2.37E-19
UVM	CGC	LRPPRC	ERCC4	0.806089758	1.88E-19
UVM	CGC	LRPPRC	PHF6	0.806668315	1.69E-19
UVM	CGC	LRPPRC	CREB1	0.811601168	6.84E-20
UVM	CGC	LRPPRC	POT1	0.812018915	6.32E-20
UVM	CGC	LRPPRC	DEK	0.816478978	2.71E-20
UVM	CGC	LRPPRC	PMS1	0.818348899	1.89E-20
UVM	CGC	LRPPRC	SUZ12	0.821470074	1.02E-20
UVM	CGC	LRPPRC	SF3B1	0.825262683	4.79E-21
UVM	CGC	LRPPRC	CDC73	0.82542632	4.63E-21
UVM	CGC	LRPPRC	ATF1	0.825564289	4.50E-21
UVM	CGC	LRPPRC	RGPD3	0.826863757	3.45E-21
UVM	CGC	LRPPRC	STAG2	0.829580202	1.97E-21
UVM	CGC	LRPPRC	USP8	0.830158149	1.74E-21
UVM	CGC	LRPPRC	DDX10	0.834256052	7.31E-22
UVM	CGC	LRPPRC	PALB2	0.83809632	3.16E-22
UVM	CGC	LRPPRC	XPO1	0.839610343	2.26E-22
UVM	CGC	LRPPRC	CUL3	0.863449193	6.84E-25
UVM	CGC	LRPPRC	FBXO11	0.868118141	1.93E-25
UVM	CGC	LRPPRC	RANBP2	0.879796089	6.54E-27
UVM	CGC	LRPPRC	MSH2	0.880216398	5.75E-27
UVM	Epifactor	LRPPRC	PARG	0.800626129	4.97E-19
UVM	Epifactor	LRPPRC	ARID4A	0.800793428	4.83E-19
UVM	Epifactor	LRPPRC	PPP4R2	0.800945263	4.70E-19
UVM	Epifactor	LRPPRC	WAC	0.801083708	4.59E-19
UVM	Epifactor	LRPPRC	CHUK	0.804601947	2.46E-19
UVM	Epifactor	LRPPRC	BRWD3	0.805876908	1.96E-19
UVM	Epifactor	LRPPRC	TAF7	0.806283682	1.82E-19
UVM	Epifactor	LRPPRC	BAZ2B	0.806525322	1.74E-19
UVM	Epifactor	LRPPRC	SUV39H2	0.80685752	1.64E-19
UVM	Epifactor	LRPPRC	UHRF2	0.808135943	1.30E-19
UVM	Epifactor	LRPPRC	JMJD1C	0.809088086	1.09E-19
UVM	Epifactor	LRPPRC	CLOCK	0.809767696	9.61E-20
UVM	Epifactor	LRPPRC	HAT1	0.810114837	9.01E-20
UVM	Epifactor	LRPPRC	DNTTIP2	0.813244197	5.02E-20
UVM	Epifactor	LRPPRC	DEK	0.816478978	2.71E-20
UVM	Epifactor	LRPPRC	BRCC3	0.817358774	2.29E-20
UVM	Epifactor	LRPPRC	SMEK1	0.818339834	1.89E-20
UVM	Epifactor	LRPPRC	DDX21	0.818487675	1.84E-20
UVM	Epifactor	LRPPRC	SIRT1	0.820220902	1.31E-20
UVM	Epifactor	LRPPRC	SUZ12	0.821470074	1.02E-20
UVM	Epifactor	LRPPRC	ATF2	0.823495708	6.84E-21
UVM	Epifactor	LRPPRC	SF3B1	0.825262683	4.79E-21
UVM	Epifactor	LRPPRC	CDC73	0.82542632	4.63E-21
UVM	Epifactor	LRPPRC	YY1	0.82605014	4.08E-21
UVM	Epifactor	LRPPRC	EPC2	0.826377483	3.82E-21
UVM	Epifactor	LRPPRC	RLIM	0.829173789	2.14E-21
UVM	Epifactor	LRPPRC	NIPBL	0.829419184	2.04E-21
UVM	Epifactor	LRPPRC	CUL5	0.831308324	1.37E-21
UVM	Epifactor	LRPPRC	TLK1	0.831787235	1.24E-21
UVM	Epifactor	LRPPRC	PHF14	0.836774185	4.23E-22
UVM	Epifactor	LRPPRC	UCHL5	0.839256223	2.45E-22
UVM	Epifactor	LRPPRC	YEATS4	0.84246382	1.19E-22
UVM	Epifactor	LRPPRC	DDX50	0.849573681	2.26E-23
UVM	Epifactor	LRPPRC	FAM175B	0.859885241	1.74E-24
UVM	Epifactor	LRPPRC	CUL3	0.863449193	6.84E-25
UVM	Epifactor	LRPPRC	CUL2	0.864014077	5.89E-25
UVM	Epifactor	LRPPRC	ZRANB3	0.87008041	1.12E-25
UVM	Epifactor	LRPPRC	SMEK2	0.871492493	7.52E-26
UVM	IUPHAR	LRPPRC	HMGCR	0.800353462	5.22E-19
UVM	IUPHAR	LRPPRC	PIK3C3	0.80113139	4.55E-19
UVM	IUPHAR	LRPPRC	MFN1	0.804106568	2.69E-19
UVM	IUPHAR	LRPPRC	CHUK	0.804601947	2.46E-19
UVM	IUPHAR	LRPPRC	BRWD3	0.805876908	1.96E-19
UVM	IUPHAR	LRPPRC	NEK1	0.806172449	1.85E-19
UVM	IUPHAR	LRPPRC	VRK2	0.806187033	1.85E-19
UVM	IUPHAR	LRPPRC	BAZ2B	0.806525322	1.74E-19
UVM	IUPHAR	LRPPRC	SUV39H2	0.80685752	1.64E-19
UVM	IUPHAR	LRPPRC	NR2C1	0.807328064	1.50E-19
UVM	IUPHAR	LRPPRC	JMJD1C	0.809088086	1.09E-19
UVM	IUPHAR	LRPPRC	ADAM17	0.809518359	1.01E-19
UVM	IUPHAR	LRPPRC	CLOCK	0.809767696	9.61E-20
UVM	IUPHAR	LRPPRC	HAT1	0.810114837	9.01E-20
UVM	IUPHAR	LRPPRC	PIKFYVE	0.811926145	6.43E-20
UVM	IUPHAR	LRPPRC	USP14	0.812221921	6.09E-20
UVM	IUPHAR	LRPPRC	SCYL2	0.812448207	5.83E-20
UVM	IUPHAR	LRPPRC	MAP3K2	0.81631655	2.80E-20
UVM	IUPHAR	LRPPRC	PRPF4B	0.817392201	2.28E-20
UVM	IUPHAR	LRPPRC	RIOK1	0.81754668	2.21E-20
UVM	IUPHAR	LRPPRC	RIOK3	0.817681094	2.15E-20
UVM	IUPHAR	LRPPRC	SIRT1	0.820220902	1.31E-20
UVM	IUPHAR	LRPPRC	SLC30A5	0.826368862	3.82E-21
UVM	IUPHAR	LRPPRC	CSNK1G3	0.828234215	2.60E-21
UVM	IUPHAR	LRPPRC	YES1	0.829328243	2.08E-21
UVM	IUPHAR	LRPPRC	TLK1	0.831787235	1.24E-21
UVM	IUPHAR	LRPPRC	PPAT	0.831880479	1.21E-21
UVM	IUPHAR	LRPPRC	XPO1	0.839610343	2.26E-22
UVM	IUPHAR	LRPPRC	TRPM7	0.855209568	5.71E-24
UVM	IUPHAR	LRPPRC	FBXO11	0.868118141	1.93E-25
UVM	Kinase	LRPPRC	CHUK	0.804601947	2.46E-19
UVM	Kinase	LRPPRC	NEK1	0.806172449	1.85E-19
UVM	Kinase	LRPPRC	VRK2	0.806187033	1.85E-19
UVM	Kinase	LRPPRC	SCYL2	0.812448207	5.83E-20
UVM	Kinase	LRPPRC	MAP3K2	0.81631655	2.80E-20
UVM	Kinase	LRPPRC	PRPF4B	0.817392201	2.28E-20
UVM	Kinase	LRPPRC	RIOK1	0.81754668	2.21E-20
UVM	Kinase	LRPPRC	RIOK3	0.817681094	2.15E-20
UVM	Kinase	LRPPRC	CSNK1G3	0.828234215	2.60E-21
UVM	Kinase	LRPPRC	YES1	0.829328243	2.08E-21
UVM	Kinase	LRPPRC	TLK1	0.831787235	1.24E-21
UVM	Kinase	LRPPRC	TRPM7	0.855209568	5.71E-24
UVM	TF	LRPPRC	ZNF431	0.800009449	5.54E-19
UVM	TF	LRPPRC	THAP5	0.801986943	3.92E-19
UVM	TF	LRPPRC	ZNF33A	0.803427952	3.03E-19
UVM	TF	LRPPRC	ZBTB11	0.803838637	2.82E-19
UVM	TF	LRPPRC	RLF	0.80397212	2.75E-19
UVM	TF	LRPPRC	PURB	0.804153912	2.66E-19
UVM	TF	LRPPRC	ZNF45	0.804790488	2.38E-19
UVM	TF	LRPPRC	RBAK	0.805396941	2.13E-19
UVM	TF	LRPPRC	ZNF180	0.805579338	2.06E-19
UVM	TF	LRPPRC	BAZ2B	0.806525322	1.74E-19
UVM	TF	LRPPRC	NR2C1	0.807328064	1.50E-19
UVM	TF	LRPPRC	CLOCK	0.809767696	9.61E-20
UVM	TF	LRPPRC	ZNF440	0.810175502	8.91E-20
UVM	TF	LRPPRC	ZNF845	0.810711067	8.07E-20
UVM	TF	LRPPRC	CREB1	0.811601168	6.84E-20
UVM	TF	LRPPRC	ZNF143	0.812506004	5.77E-20
UVM	TF	LRPPRC	NFXL1	0.822147694	8.95E-21
UVM	TF	LRPPRC	MEF2A	0.82301826	7.53E-21
UVM	TF	LRPPRC	ZNF280D	0.82304779	7.48E-21
UVM	TF	LRPPRC	ZNF420	0.823430113	6.93E-21
UVM	TF	LRPPRC	ATF2	0.823495708	6.84E-21
UVM	TF	LRPPRC	ATF1	0.825564289	4.50E-21
UVM	TF	LRPPRC	YY1	0.82605014	4.08E-21
UVM	TF	LRPPRC	ZNF800	0.827936361	2.77E-21
UVM	TF	LRPPRC	ZNF37A	0.829505822	2.00E-21
UVM	TF	LRPPRC	TOPORS	0.829651366	1.94E-21
UVM	TF	LRPPRC	ZNF41	0.830243193	1.71E-21
UVM	TF	LRPPRC	AHCTF1	0.830490121	1.63E-21
UVM	TF	LRPPRC	ZNF558	0.831332157	1.36E-21
UVM	TF	LRPPRC	ZNF28	0.832078836	1.16E-21
UVM	TF	LRPPRC	ZC3H8	0.833165411	9.23E-22
UVM	TF	LRPPRC	GPBP1	0.833623579	8.37E-22
UVM	TF	LRPPRC	ZNF320	0.83498162	6.25E-22
UVM	TF	LRPPRC	ZNF791	0.835774902	5.26E-22
UVM	TF	LRPPRC	SMAD5	0.838957589	2.62E-22
UVM	TF	LRPPRC	SP3	0.858502384	2.49E-24
UVM	TF	LRPPRC	ZNF131	0.86124322	1.22E-24
UVM	TF	LRPPRC	ZNF146	0.867599137	2.23E-25
UVM	TF	LRPPRC	CEBPZ	0.867658746	2.19E-25
UVM	TSG	LRPPRC	CHUK	0.804601947	2.46E-19
UVM	TSG	LRPPRC	VEZT	0.805227138	2.20E-19
UVM	TSG	LRPPRC	GTPBP4	0.806063391	1.89E-19
UVM	TSG	LRPPRC	PHF6	0.806668315	1.69E-19
UVM	TSG	LRPPRC	CCAR1	0.808001068	1.33E-19
UVM	TSG	LRPPRC	UHRF2	0.808135943	1.30E-19
UVM	TSG	LRPPRC	MLH3	0.809324821	1.04E-19
UVM	TSG	LRPPRC	SIRT1	0.820220902	1.31E-20
UVM	TSG	LRPPRC	SUZ12	0.821470074	1.02E-20
UVM	TSG	LRPPRC	CDC73	0.82542632	4.63E-21
UVM	TSG	LRPPRC	TOPORS	0.829651366	1.94E-21
UVM	TSG	LRPPRC	CUL5	0.831308324	1.37E-21
UVM	TSG	LRPPRC	DCLRE1A	0.832412664	1.08E-21
UVM	TSG	LRPPRC	INTS6	0.835483285	5.61E-22
UVM	TSG	LRPPRC	PALB2	0.83809632	3.16E-22
UVM	TSG	LRPPRC	KRIT1	0.849587474	2.26E-23
UVM	TSG	LRPPRC	LIN9	0.853428498	8.88E-24
UVM	TSG	LRPPRC	COPS2	0.854365916	7.04E-24
UVM	TSG	LRPPRC	CUL2	0.864014077	5.89E-25
UVM	TSG	LRPPRC	MSH2	0.880216398	5.75E-27

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Protein structure

Protein 3D structure
Visit iCn3D.

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Protein-Protein Interaction

Protein-protein interaction networks
* Overlap between up-regulated DEGs (log2FC<-1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))

Overlap between down-regulated DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))

* Edge colors based on TCGA cancer types.

* Overlap between DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network per cancer (center: Translation factor, node: DEGs, node color: log2FC, edges: weighted by -log2(adj.P))

Cancer type	Translation factor	Interacting protein coding gene	FC	adj.pval
PRAD	LRPPRC	JAK1	1.85237167422825	0.00022175071084056
LUAD	LRPPRC	JAK1	-1.4167901012388	0.000235424671498292
KIRC	LRPPRC	PTPN11	-1.04569475255792	0.00255892408754689
STAD	LRPPRC	ERBB2	2.08308782318447	0.00733334058895707
COAD	LRPPRC	PTPN11	-2.73881439079228	0.00938254594802858
BLCA	LRPPRC	ERBB2	1.70986293820428	0.014068603515625
HNSC	LRPPRC	BECN1	-2.30930109461252	0.0224968952327345
UCEC	LRPPRC	CYCS	-2.81266000225107	0.03125
READ	LRPPRC	PPARGC1A	-3.25107536783992	0.03125
PRAD	LRPPRC	SOS1	-1.49912125194799	0.0496995842628905
BRCA	LRPPRC	JAK1	-1.06859373361435	2.00793019695415e-13
LUSC	LRPPRC	STAT3	-1.0616935152134	2.622390634108e-05
KICH	LRPPRC	CYCS	1.56563374350741	2.98023223876953e-07
COAD	LRPPRC	PPARGC1A	-2.26145630473509	2.98023223876954e-08
THCA	LRPPRC	CYCS	1.97748704739574	3.03520282946109e-06
KIRC	LRPPRC	STAT3	-1.71331361645034	3.24635122520647e-05
BRCA	LRPPRC	ERBB2	2.10379074903324	4.64802044953281e-07
BRCA	LRPPRC	CYCS	-1.49929042625543	4.88583064086618e-16
THCA	LRPPRC	ERBB2	1.02793927266444	5.71717197842929e-07
LUAD	LRPPRC	CYCS	-6.2492698502496	5.91982739853218e-07
KICH	LRPPRC	ERBB2	-2.13618034410539	6.55651092529297e-06
THCA	LRPPRC	PPARGC1A	-1.73302120474718	6.78994241272255e-11
BRCA	LRPPRC	SOS1	-1.53967462511785	6.82748332189776e-13
BRCA	LRPPRC	PTPN11	-1.55172115438468	7.41985411816593e-10
LUAD	LRPPRC	ERBB2	1.65046120667728	8.94245335020896e-05
HNSC	LRPPRC	ERBB2	-3.64938375773393	9.1349647846073e-09

Protein-protein interactors with this translation factor (BIOGRID-3.4.160)

PPI interactors with LRPPRC

UXT, MAP1S, CECR2, HEBP2, ARF6, GSTK1, IKBKE, PTP4A3, TNFRSF10D, NEK6, GABARAPL2, PHLDA3, WRAP73, MAGED1, MAGEA6, USP19, USP49, BRE, TP53, TP73, ATG101, PPARGC1A, FOXO1, MYC, ICT1, CD4, HDAC5, EBNA-LP, RAD21, SIRT7, HNRNPA1, FBXO25, CDK2, GRK5, MRPS35, ILF3, CPS1, SEC23A, SMURF1, FN1, VCAM1, C1QBP, PEX14, METTL22, ITGA4, vpu, ADRB2, FBXO6, PARK2, ASB5, LGR4, IVNS1ABP, STAU1, SPRTN, AURKA, AURKB, CDKN1A, CEP250, HAUS2, CEP76, SART3, SHMT2, MOV10, NXF1, CUL7, CCDC8, EZH2, RNF2, BMI1, EGFR, RPS6KB2, FBXW11, LMAN1, ADARB1, DDX6, LSM4, RAB1A, NAA38, NTRK1, CENPE, ERCC5, ETFB, FEN1, HSPA8, ITPR3, SCO1, WAS, STK24, LONP1, CAPZA2, RAB7A, SIRT1, MTHFD1L, TIMMDC1, SPC25, ZC3H14, EDEM3, SLIRP, EIF2AK4, Bub1, Cdh1, Kctd5, CRY1, CRY2, MCM2, MEX3C, ESRRB, ERBB3, COA3, MYCN, ZNF746, RAC1, PDHA1, TRIM25, HNRNPL, CFTR, PPP6C, SLC25A1, EGLN3, TMPO, PPEF1, PHACTR3, JUP, PPIE, HIF1A, CUL4B, UBE2M, RAD18, EFTUD2, AAR2, PIH1D1, NFKB1, CDC34, FAM188B, ESR2, HEXIM1, MEPCE, PPT1, AGR2, RECQL4, PIK3R1, ZFP36L2, WDR76, HIST1H4A, HIST1H2BB, HIST1H2AB, MRM1, HSPD1, PDK1, TRMT61B, AURKAIP1, GRWD1, KIAA1429, METTL14, WTAP, RC3H1, RC3H2, PHB, Bach1, TMEM41B, NR2C2, UBQLN2, PPARG, HSP90AA1, AASS, HSP90AB1, SND1, P4HA1, VDAC2, NNT, ATP2A2, NDUFS1, POR, CYC1, BCKDHB, NDUFV1, VCP, NDUFS3, NDUFS7, CANX, TPP1, NDUFA9, CORO1C, ASPH, BCAP31, NDUFS8, PON2, ATP6V1A, HMOX2, HK1, ETFDH, UQCRH, UQCRC2, UQCRC1, EMC8, BCKDHA, ARMCX3, NDUFV2, APOE, HADHA, EMC4, EMC2, CTNNB1, COMT, ATP5C1, LACTB, APP, LRRC59, LAMTOR2, RCN2, ATP5F1, ATP5B, DLAT, EPRS, HSP90B1, ALDH16A1, AUH, C20orf24, DHX9, HADHB, KARS, LARS, MINOS1, NIPSNAP1, PARS2, RARS, VDAC3, MGST3, NDUFS2, PDHX, TOMM40, XRCC6, UNC93B1, VAMP5, ACPP, CDC14A, CDC25A, CDC25C, DNAJC6, DUSP13, DUSP14, DUSP15, DUSP2, DUSP21, DUSP23, DUSP26, DUSP28, DUSP3, DUSP4, DUSP6, PTPMT1, PTPN11, PTPN2, PTPN3, PTPN7, PTPRN2, RNGTT, STYX, TPTE, TPTE2, BIRC3, LMBR1L, NFX1, BRD7, MATR3, BECN1, BCL2, TEX101, PLEKHA4, MAGEA3, PINK1, FANCD2, NGB, PTEN, LINC01554, MIRLET7A1, MIRLET7A2, MIRLET7A3, MIRLET7B, MIRLET7C, MIRLET7D, MIRLET7E, MIRLET7F1, MIRLET7F2, MIRLET7G, MIRLET7I, MIR98, MIR1-1, MIR1-2, MIR7-1, MIR7-2, MIR7-3, MIR9-1, MIR9-2, MIR9-3, MIR10B, MIR15A, MIR15B, MIR16-1, MIR16-2, MIR17, MIR18A, MIR18B, MIR19A, MIR19B1, MIR19B2, MIR20A, MIR20B, MIR21, MIR25, MIR29A, MIR29B1, MIR29B2, MIR29C, MIR31, MIR34A, MIR34B, MIR34C, MIR92A1, MIR92A2, MIR93, MIR106A, MIR106B, MIR107, MIR122, MIR128-1, MIR128-2, MIR138-1, MIR138-2, MIR140, MIR141, MIR143, MIR145, MIR155, MIR199A1, MIR199A2, MIR200A, MIR200B, MIR200C, MIR205, MIR206, MIR214, MIR221, MIR222, MIR363, MIR429, MIR451A, DUSP1, GAB1, HCK, MAPK3, MTA2, PDPK1, PTPRR, ANKRD55, PARL, E, nsp16, ORF6, ORF14, IMMP1L, IMMP2L, WAPAL, ANKRD1, HSCB, GRSF1, CIT, ANLN, CHMP4B, CHMP4C, ECT2, KIF14, KIF20A, KIF23, PRC1, ACAD9, C12orf65, C17orf80, C21orf33, C6orf203, C8orf82, MCUR1, CCDC90B, CHCHD1, COX15, CRYZ, CS, DDX28, DHX30, FASTKD2, FASTKD3, FASTKD5, GFM1, GFM2, HINT2, ABCB7, ACADM, ACAT1, ACOT1, ACOT2, AFG3L2, AK4, ALAS1, ALDH2, ATPIF1, ATP5J2-PTCD1, ATP5J, ATPAF1, BCS1L, CARS2, CLPP, CLPX, COQ5, COX4I1, COX5A, DAP3, DBT, DLST, EARS2, ECHS1, ECSIT, ELAC2, ERAL1, ETFA, GADD45GIP1, GATB, GATC, GCDH, GLS, GLUD1, GTPBP10, GUF1, HADH, HARS2, HNRNPAB, HNRNPDL, HNRNPR, HNRNPUL1, HSD17B10, HSDL2, IARS2, IBA57, IDH3A, KIAA0391, LARS2, LETM1, LYPLAL1, MDH2, ME2, METTL15, MGME1, MMAB, RNMTL1, MRPL1, MRPL10, MRPL12, MRPL13, MRPL14, MRPL15, MRPL17, MRPL18, MRPL19, MRPL2, MRPL20, MRPL21, MRPL22, MRPL23, MRPL24, MRPL27, MRPL28, MRPL3, MRPL37, MRPL38, MRPL39, MRPL4, MRPL40, MRPL41, MRPL42, MRPL43, MRPL44, MRPL45, MRPL46, MRPL47, MRPL48, MRPL49, MRPL50, MRPL52, MRPL53, MRPL9, MRPS10, MRPS11, MRPS14, MRPS16, MRPS17, MRPS18A, MRPS18B, MRPS18C, MRPS2, MRPS21, MRPS22, MRPS23, MRPS24, MRPS25, MRPS26, MRPS27, MRPS28, MRPS30, MRPS31, MRPS33, MRPS34, MRPS36, MRPS5, MRPS6, MRPS7, MRPS9, MTERF3, MTIF2, MTPAP, NDUFA12, NDUFA2, NDUFA5, NDUFA6, NDUFA7, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF7, NDUFS4, NDUFS6, NDUFV3, NFS1, NGRN, NME4, NT5DC2, OGDH, OXA1L, PAM16, PDK3, PDPR, PNPT1, POLDIP2, POLG, POLRMT, PPA2, PPIF, PTCD3, PUS1, PYCR1, PYCR2, QRSL1, RBMX, WBSCR16, RPUSD3, RPUSD4, RTN4IP1, ACN9, SDHB, SLC30A9, STOML2, SUCLA2, SUPV3L1, TACO1, TBRG4, TEFM, THEM4, THNSL1, TIMM44, TRMT10C, TRMT2B, TRMT5, TRUB2, TSFM, C10orf2, UQCC1, VARS2, VWA8, YARS2, ZFR, CCDC109B, METTL17, MRPL11, MRPS12, MRRF, MTFMT, MTG1, MTG2, MTIF3, MTRF1, MTRF1L, OTC, PMPCA, PMPCB, RMND1, SLC25A12, SSBP1, SURF1, TFAM, C19orf52, TMEM70, TUFM, EXD2, AIMP2, MAFB, NINL, RBM45, Apc2, FBP1, CUL4A, RIN3, DNAJA3, DNAJC15, DNAJC19, DNAJC28, DNAJC30, DNAJC4, HSPA9, DDX58, UFL1, DDRGK1, AARS2, AIFM1, AKAP1, CENPA, COIL, COX8A, DERL1, PEX3, PHB2, SFXN1, TRAP1, ZNF330, FZR1, WDR5, NUDCD2, PNMAL1, FBXL5, PNKD, DGCR2, BTF3, ESR1, ZRANB1, FBXW7, nsp1, nsp3, nsp5, nsp6, ORF3a, nsp10, S, FGD5, NBR1, NR3C1, PER2,

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Mutations

Clinically associated variants from ClinVar.

Gene	Chr	Position	RefSeq	VarSeq	RefSeeq	VarType	Pathogenic	Disease	VarInfo
LRPPRC	chr2	44113363	G	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44113450	T	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44113462	T	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44113494	T	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44113509	T	G	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44113515	T	G	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44113547	T	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44113563	T	A	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44113582	A	T	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44113640	G	T	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44113690	A	AC	Duplication	Uncertain_significance	Leigh_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44113697	C	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44113698	G	A	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44113698	G	T	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44113758	T	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44113778	A	G	single_nucleotide_variant	Likely_benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44113828	C	T	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44113844	C	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44113844	C	T	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44113845	G	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44113867	G	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44113923	A	G	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44113933	T	G	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44113987	G	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44114020	C	T	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44114022	G	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44114050	C	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44114054	C	T	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44114055	G	T	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44114074	G	A	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44114074	G	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44114086	C	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44114086	C	T	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44114087	G	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44114152	G	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44114155	C	T	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44114175	C	T	single_nucleotide_variant	Likely_benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44114176	G	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44114241	C	T	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44114281	T	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44114282	C	CAAAAAAAA	Duplication	Uncertain_significance	Leigh_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44114282	C	CAAAAAAAAAAAA	Duplication	Uncertain_significance	Leigh_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44114303	AG	A	Deletion	Uncertain_significance	Leigh_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44114304	G	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44114348	G	GCAGT	Duplication	Uncertain_significance	Leigh_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44114367	C	T	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44114368	G	A	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44114369	C	T	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44114384	G	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44114396	C	G	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44114404	A	G	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44114587	G	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44114618	C	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44114651	C	G	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44114743	T	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44114914	T	C	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44115004	G	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44115005	T	C	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44115072	G	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44115092	C	G	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44115149	G	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44115152	G	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44115162	C	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44115183	T	A	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44115205	C	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44115221	T	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44115254	G	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44115283	C	G	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44115319	G	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44115330	G	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44115340	C	T	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44115396	G	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44115521	T	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44115629	C	T	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
LRPPRC	chr2	44115741	A	AAGAAG	Duplication	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001578\|stop_lost,SO:0001589\|frameshift_variant	SO:0001578\|stop_lost,SO:0001589\|frameshift_variant
LRPPRC	chr2	44115744	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44115747	A	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44115759	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44115768	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44115768	G	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44115792	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44115800	TAAG	T	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44115803	G	A	single_nucleotide_variant	Likely_benign	not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44115804	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44116040	CAT	C	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44116100	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44116706	GCC	G	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44116836	C	T	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44116871	A	C	single_nucleotide_variant	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
LRPPRC	chr2	44116872	C	CA	Duplication	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001587\|nonsense	SO:0001587\|nonsense
LRPPRC	chr2	44116872	C	T	single_nucleotide_variant	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
LRPPRC	chr2	44116872	CA	C	Deletion	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_specified\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
LRPPRC	chr2	44116903	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44116923	C	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|Inborn_genetic_diseases	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44116923	C	T	single_nucleotide_variant	Benign/Likely_benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44116924	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44116924	G	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001587\|nonsense	SO:0001587\|nonsense
LRPPRC	chr2	44116927	A	G	single_nucleotide_variant	Likely_benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44116928	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44116930	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44116939	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44116941	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44116945	A	T	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44116950	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44116981	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44116989	T	TA	Duplication	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
LRPPRC	chr2	44117002	A	G	single_nucleotide_variant	Likely_benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44117016	C	G	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
LRPPRC	chr2	44117019	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44117020	CAT	C	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44117022	T	TAAAG	Duplication	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44117024	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44117046	A	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44117098	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44121493	TTTC	T	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44121665	CAAATT	C	Deletion	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44121676	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44121685	A	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44121687	AG	A	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
LRPPRC	chr2	44121700	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44121706	G	T	single_nucleotide_variant	Pathogenic/Likely_pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
LRPPRC	chr2	44121709	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44121717	C	A	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
LRPPRC	chr2	44121734	G	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44121760	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44121772	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44121774	A	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44121782	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44121928	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44121943	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44123475	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44123514	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44123580	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44123672	TC	T	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44123758	G	A	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44123759	G	A	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44123763	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44123764	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44123764	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44123772	C	G	single_nucleotide_variant	Pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
LRPPRC	chr2	44123803	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44123803	GAAC	G	Microsatellite	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
LRPPRC	chr2	44123818	C	G	single_nucleotide_variant	Likely_benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44123818	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44123830	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44123836	T	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44123845	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44123860	A	ACAT	Duplication	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44124055	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44126059	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44126343	G	A	single_nucleotide_variant	Benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44126361	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44126363	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44126366	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44126367	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44126368	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44126370	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44126374	G	A	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44126383	AC	A	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
LRPPRC	chr2	44126385	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44126388	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44126391	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44126397	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44126412	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44126439	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44126446	T	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44126460	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44126482	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44126598	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44126604	C	A	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
LRPPRC	chr2	44126604	C	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
LRPPRC	chr2	44126615	T	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44126624	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44126637	ATTAC	A	Deletion	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001587\|nonsense	SO:0001587\|nonsense
LRPPRC	chr2	44126641	C	G	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44126648	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44126655	T	G	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44126666	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44126673	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44126686	CTT	C	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
LRPPRC	chr2	44126719	T	C	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44126728	C	T	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44126729	G	A	single_nucleotide_variant	Likely_benign	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44126736	A	G	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44126747	G	A	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44126932	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44128460	T	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44128461	C	CT	Duplication	Likely_pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
LRPPRC	chr2	44128479	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44128504	G	C	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
LRPPRC	chr2	44128524	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44128542	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44128548	T	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44128555	A	G	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44128577	T	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44128584	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44128598	G	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44128617	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44128620	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44128631	G	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
LRPPRC	chr2	44128653	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44128672	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44128679	A	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44128697	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44128869	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44128912	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44132825	A	T	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44132830	C	G	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
LRPPRC	chr2	44132830	C	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
LRPPRC	chr2	44132844	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44132853	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44132856	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44132872	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44132886	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44132892	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44132892	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44132908	TG	T	Deletion	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
LRPPRC	chr2	44132910	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44132916	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44132918	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44132927	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44139341	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44139474	A	G	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44139564	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44139573	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44139573	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44139588	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44139627	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44139672	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44139696	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44139706	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44139986	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44145150	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44145152	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44145162	G	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
LRPPRC	chr2	44145164	C	CT	Duplication	Pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
LRPPRC	chr2	44145182	G	A	single_nucleotide_variant	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001587\|nonsense	SO:0001587\|nonsense
LRPPRC	chr2	44145194	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44145219	T	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44145234	C	T	single_nucleotide_variant	Likely_benign	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44145240	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44145246	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44145267	C	T	single_nucleotide_variant	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001587\|nonsense	SO:0001587\|nonsense
LRPPRC	chr2	44145276	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44145374	G	T	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44145387	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44145398	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44145400	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44145404	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44145410	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44145410	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44145427	CCTCT	C	Microsatellite	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
LRPPRC	chr2	44145431	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44145450	A	C	single_nucleotide_variant	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001587\|nonsense	SO:0001587\|nonsense
LRPPRC	chr2	44145453	C	G	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44145468	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44145468	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44145469	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44145479	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44145503	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44145524	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44145530	G	A	single_nucleotide_variant	Likely_benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44145576	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44145799	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44145837	A	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44152058	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44152180	G	A	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44152190	T	C	single_nucleotide_variant	Benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44152198	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44152237	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44152241	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44152255	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44152287	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44152305	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44152406	G	T	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44152529	T	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44152908	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44152995	C	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44153059	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44153071	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44153076	C	A	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44153082	G	A	single_nucleotide_variant	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001587\|nonsense	SO:0001587\|nonsense
LRPPRC	chr2	44153096	G	T	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44153101	C	A	single_nucleotide_variant	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
LRPPRC	chr2	44153107	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44153330	G	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44153332	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44161328	C	A	single_nucleotide_variant	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
LRPPRC	chr2	44161336	ATCT	A	Microsatellite	Pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
LRPPRC	chr2	44161359	T	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44161368	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44161385	G	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44161410	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44161439	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44161445	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44161457	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44161854	G	GA	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44161854	GA	G	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44161875	T	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44161881	A	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44161884	GT	G	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44161905	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44161909	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44161912	C	G	single_nucleotide_variant	not_provided	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44161915	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44161918	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44161924	TACC	T	Deletion	Pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
LRPPRC	chr2	44161953	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44161959	A	G	single_nucleotide_variant	Likely_benign	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44161960	T	C	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44161963	TTTATACTTTTCATA	T	Deletion	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
LRPPRC	chr2	44161977	A	G	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44161990	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44162008	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44162018	C	A	single_nucleotide_variant	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
LRPPRC	chr2	44162026	C	CA	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44162166	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44162259	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44162320	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44162321	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44170581	A	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44170698	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44170809	A	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44170824	A	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
LRPPRC	chr2	44170833	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44170843	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44170849	T	C	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44170852	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44170858	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44170859	A	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44170870	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44170880	A	T	single_nucleotide_variant	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001587\|nonsense	SO:0001587\|nonsense
LRPPRC	chr2	44170882	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44170882	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44170894	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44170907	A	C	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44170932	C	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44170935	T	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
LRPPRC	chr2	44170938	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44170942	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44170942	T	C	single_nucleotide_variant	Likely_benign	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44170945	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44170957	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44170960	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44170966	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44170978	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44170993	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44170999	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44171004	C	A	single_nucleotide_variant	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001587\|nonsense	SO:0001587\|nonsense
LRPPRC	chr2	44171005	T	C	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44171020	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44171029	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44172444	A	C	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44172450	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44172470	C	T	single_nucleotide_variant	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
LRPPRC	chr2	44172487	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44172495	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44172496	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44172505	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44172511	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44172532	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44172539	G	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44172541	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44172551	C	T	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44172636	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44172667	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44173087	CAATT	C	Microsatellite	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44173242	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44173248	T	G	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44173308	T	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44173320	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44173321	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44173341	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44173342	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44173344	T	C	single_nucleotide_variant	Benign/Likely_benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44173347	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44173362	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44173365	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44173383	C	G	single_nucleotide_variant	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
LRPPRC	chr2	44173391	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44173422	T	G	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44174386	C	T	single_nucleotide_variant	Likely_benign	not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44174403	G	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44174405	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44174419	T	C	single_nucleotide_variant	Uncertain_significance	Leigh_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44174436	T	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44174447	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44174455	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44174477	G	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44174489	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44174492	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44174503	GCA	G	Microsatellite	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
LRPPRC	chr2	44174516	AAAAG	A	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44174520	GA	G	Deletion	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44174563	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44174897	AACC	A	Deletion	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001820\|inframe_indel	SO:0001820\|inframe_indel
LRPPRC	chr2	44174906	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44174907	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44174921	T	C	single_nucleotide_variant	Uncertain_significance	Leigh_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44174968	T	A	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44175038	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44175135	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44175208	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44175250	T	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44175260	C	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
LRPPRC	chr2	44175263	TAATC	T	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
LRPPRC	chr2	44175266	T	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44175282	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44175291	CAGG	C	Deletion	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
LRPPRC	chr2	44175293	G	A	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44175301	C	T	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44175312	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44175312	GTAGA	G	Deletion	Pathogenic/Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
LRPPRC	chr2	44175315	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44175318	A	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44175333	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44175366	A	C	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44175541	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44175549	A	T	single_nucleotide_variant	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
LRPPRC	chr2	44175552	A	G	single_nucleotide_variant	Benign/Likely_benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44175560	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44175562	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44175601	G	A	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
LRPPRC	chr2	44175628	T	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44175631	A	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44175640	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44175663	G	GA	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44175664	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44175671	C	T	single_nucleotide_variant	Benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44175872	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44176736	G	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44176745	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44176752	CGA	C	Deletion	Pathogenic/Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
LRPPRC	chr2	44176753	G	A	single_nucleotide_variant	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001587\|nonsense	SO:0001587\|nonsense
LRPPRC	chr2	44176770	C	T	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44176781	G	C	single_nucleotide_variant	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001587\|nonsense	SO:0001587\|nonsense
LRPPRC	chr2	44176789	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44176798	T	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|Inborn_genetic_diseases\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44176799	C	CT	Duplication	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
LRPPRC	chr2	44176803	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44176805	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44177075	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44177418	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44177454	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44177534	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44177560	C	T	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44177645	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44177694	A	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44177701	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44177701	G	C	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44177703	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44177705	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Leigh_syndrome\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44177715	G	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44177721	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44177730	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44177745	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44177747	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44177757	G	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44177948	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44178034	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44178038	G	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44184227	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44184504	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44184513	G	A	single_nucleotide_variant	Likely_benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44184516	C	T	single_nucleotide_variant	Likely_benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44184523	CC	AAA	Indel	Pathogenic	not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
LRPPRC	chr2	44184538	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44184541	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44184543	G	A	single_nucleotide_variant	Likely_benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44184550	T	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44184561	G	A	single_nucleotide_variant	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001587\|nonsense	SO:0001587\|nonsense
LRPPRC	chr2	44184564	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44184571	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44184584	G	T	single_nucleotide_variant	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001587\|nonsense	SO:0001587\|nonsense
LRPPRC	chr2	44184594	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44184599	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44184604	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44184607	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44184671	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44187652	A	G	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44187660	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44187673	T	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44187684	T	C	single_nucleotide_variant	Likely_benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44187685	G	T	single_nucleotide_variant	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001587\|nonsense	SO:0001587\|nonsense
LRPPRC	chr2	44187704	T	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44187708	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44187715	G	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44187717	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44187720	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44187733	G	C	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44187756	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44187759	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44187771	T	A	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44187829	A	C	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44187950	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44190392	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44190480	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44190687	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44190711	C	T	single_nucleotide_variant	Benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44190719	G	C	single_nucleotide_variant	Likely_benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44190742	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44190745	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44190783	T	C	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44190784	A	C	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
LRPPRC	chr2	44190789	T	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44190794	T	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44190796	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44190825	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44190829	GA	G	Deletion	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
LRPPRC	chr2	44190832	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44190832	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44191080	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44191098	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44200726	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44200741	C	T	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44200750	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44200756	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44200767	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44200772	C	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44200783	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44200783	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44200798	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44200799	G	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44200810	A	G	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44200814	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44200815	C	T	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44200816	T	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44200820	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Intellectual_disability\|Seizures\|Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44200825	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44200828	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44200847	GC	G	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
LRPPRC	chr2	44200860	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44200862	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44200862	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44200863	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44200865	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44200926	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44200932	A	G	single_nucleotide_variant	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
LRPPRC	chr2	44200942	T	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44200942	T	G	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44200947	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44200947	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44200959	A	G	single_nucleotide_variant	Likely_benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44200971	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44200976	G	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44200984	G	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44200986	G	A	single_nucleotide_variant	Likely_benign	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44200994	G	A	single_nucleotide_variant	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001587\|nonsense	SO:0001587\|nonsense
LRPPRC	chr2	44200999	TC	T	Deletion	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
LRPPRC	chr2	44201011	T	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44201018	A	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44201018	A	G	single_nucleotide_variant	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44201025	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44201043	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44201044	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44201045	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44201046	G	GA	Duplication	Conflicting_interpretations_of_pathogenicity	Leigh_syndrome\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44201222	CTATACTT	C	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44201259	T	C	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44201282	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44201287	A	C	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
LRPPRC	chr2	44201307	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44201348	CCTTT	C	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
LRPPRC	chr2	44201352	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44201353	G	C	single_nucleotide_variant	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001587\|nonsense	SO:0001587\|nonsense
LRPPRC	chr2	44201358	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44201358	G	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44201364	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44201369	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44201376	T	C	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44201382	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44201383	G	A	single_nucleotide_variant	Pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44201396	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44201406	G	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44201409	T	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44201411	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44201433	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44201439	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44201443	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44201738	T	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44201745	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44201760	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44201765	T	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44201797	G	A	single_nucleotide_variant	Uncertain_significance	Intellectual_disability\|Seizures	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44201826	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44201829	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44201854	C	T	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44201874	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44201877	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44201879	TCTC	T	Deletion	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
LRPPRC	chr2	44201892	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44201901	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44201905	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44202063	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44202219	A	C	single_nucleotide_variant	Likely_benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44202222	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44202228	A	G	single_nucleotide_variant	Pathogenic/Likely_pathogenic	not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
LRPPRC	chr2	44202233	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44202236	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44202239	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44202250	C	T	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44202251	G	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44202260	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44202263	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44202278	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44202280	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44202281	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44202286	A	G	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44202290	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44202291	T	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44202291	T	G	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44202292	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44202311	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44202317	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44202353	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44202362	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44202364	T	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44202365	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44202374	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44202426	A	G	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44203273	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44203287	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44203290	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44203296	C	T	single_nucleotide_variant	Likely_benign	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44203300	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44203308	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44203317	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44203324	T	C	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44203324	T	G	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44203343	T	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44203362	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44203375	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44203383	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44203540	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44203569	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44203579	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44203864	A	AC	Insertion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44203864	A	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44204017	C	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44204124	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44204132	C	G	single_nucleotide_variant	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
LRPPRC	chr2	44204144	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44204150	T	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44204156	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44204163	T	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44204176	A	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44204179	TCTGGTATGTCAC	T	Deletion	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided
LRPPRC	chr2	44204182	G	A	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
LRPPRC	chr2	44204183	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44204183	G	T	single_nucleotide_variant	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001587\|nonsense	SO:0001587\|nonsense
LRPPRC	chr2	44204293	C	A	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
LRPPRC	chr2	44204296	G	A	single_nucleotide_variant	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001587\|nonsense	SO:0001587\|nonsense
LRPPRC	chr2	44204298	T	G	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44204303	T	C	single_nucleotide_variant	Likely_benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44204330	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44204333	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44204345	T	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44204351	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44204357	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44204360	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44204370	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44204410	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44204419	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44204428	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44204435	T	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44204444	AG	A	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44204547	G	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44204717	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44206799	A	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44206964	C	G	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
LRPPRC	chr2	44206964	C	T	single_nucleotide_variant	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
LRPPRC	chr2	44206992	T	G	single_nucleotide_variant	Likely_benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44206993	A	G	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44207017	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44207020	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44207026	T	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44207069	T	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44207074	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44207080	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44207086	A	G	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44207091	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44207091	T	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44207092	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44207106	T	C	single_nucleotide_variant	Benign	not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44209133	GC	G	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44209368	T	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44209384	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44209385	C	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44209388	G	GT	Duplication	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
LRPPRC	chr2	44209428	G	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44209434	T	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44209440	G	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
LRPPRC	chr2	44209440	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44209445	G	GAAAGATCTAGTCTCGGGTAGTGGCTTCTTTCCTGGCAACTATGATTATTTGAAAACAACGTCAAGAGAAGGCTCGAAGGCGCCGCGGGCTGGGGTCGGTGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	Insertion	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
LRPPRC	chr2	44209447	A	G	single_nucleotide_variant	Likely_benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44209453	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44209456	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44209461	T	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44209468	CCAAT	C	Deletion	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
LRPPRC	chr2	44209469	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44209469	C	T	single_nucleotide_variant	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001587\|nonsense	SO:0001587\|nonsense
LRPPRC	chr2	44209469	CAATCAAACTGATTGG	C	Deletion	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
LRPPRC	chr2	44209477	C	T	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44209480	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44209481	T	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44209506	T	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44209507	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44209516	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44209519	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44209519	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44209534	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44209544	G	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44209551	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44209552	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44209566	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44209569	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44209572	C	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44209591	AT	A	Deletion	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44209781	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44209806	C	A	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44222662	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44222664	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44222723	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44222782	C	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44222855	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44222873	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44222881	C	A	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44222889	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44222909	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44222918	G	C	single_nucleotide_variant	Benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44222919	A	G	single_nucleotide_variant	Benign	not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44222929	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44222930	G	A	single_nucleotide_variant	Likely_benign	not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LRPPRC	chr2	44222946	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44222946	G	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44222949	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44222952	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44222952	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44222957	G	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44222961	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44222971	T	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44222971	TAGG	T	Microsatellite	Uncertain_significance	not_specified	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
LRPPRC	chr2	44222973	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44222976	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44222978	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44222978	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44222979	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44222991	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44222993	C	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44222997	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44223006	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44223006	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44223007	A	AGGAGGCGCAGGGAGAGCG	Duplication	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001821\|inframe_insertion	SO:0001821\|inframe_insertion
LRPPRC	chr2	44223008	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44223012	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44223013	C	T	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44223017	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44223017	G	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44223021	G	A	single_nucleotide_variant	Likely_benign	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44223021	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44223023	G	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44223027	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44223027	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44223029	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44223036	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44223042	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44223045	G	A	single_nucleotide_variant	Likely_benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44223046	G	C	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44223048	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44223060	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44223066	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44223072	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44223074	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44223078	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LRPPRC	chr2	44223079	G	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44223080	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|Leigh_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44223082	G	A	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LRPPRC	chr2	44223084	C	T	single_nucleotide_variant	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant
LRPPRC	chr2	44223085	A	T	single_nucleotide_variant	Likely_pathogenic	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant
LRPPRC	chr2	44223090	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
LRPPRC	chr2	44223097	T	C	single_nucleotide_variant	Benign	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type\|not_specified	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
LRPPRC	chr2	44223105	G	C	single_nucleotide_variant	Uncertain_significance	Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
LRPPRC	chr2	44223119	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
LRPPRC	chr2	44223131	C	T	single_nucleotide_variant	Benign	Leigh_syndrome\|not_provided
LRPPRC	chr2	44223163	C	CGCG	Duplication	Likely_benign	not_provided
LRPPRC	chr2	44223209	C	G	single_nucleotide_variant	Likely_benign	not_provided
LRPPRC	chr2	44223358	C	G	single_nucleotide_variant	Benign	not_provided
LRPPRC	chr2	44223395	A	C	single_nucleotide_variant	Likely_benign	not_provided

nsSNVs with sample frequency (size of circle) from TCGA 33 cancers.

SNVs and Indels

Gene	Cancer type	Chromosome	Start	End	RefSeeq	MutSeq	Mutation type	AAchange	# samples
LRPPRC	LUAD	chr2	44145419	44145419	C	G	Missense_Mutation	p.Q1005H	7
LRPPRC	CESC	chr2	44145165	44145165	T	-	Frame_Shift_Del		4
LRPPRC	CESC	chr2	44175581	44175581	C	T	Silent		4
LRPPRC	ESCA	chr2	44145165	44145165	T	-	Splice_Site	p.K1049_splice	4
LRPPRC	KIRP	chr2	44139638	44139638	A	G	Missense_Mutation	p.Y1070H	4
LRPPRC	PRAD	chr2	44153050	44153050	T	C	Silent	p.R929R	4
LRPPRC	KIRP	chr2	44207047	44207047	A	G	Silent	p.S129S	4
LRPPRC	ESCA	chr2	44187730	44187730	C	A	Missense_Mutation	p.G511V	3
LRPPRC	BRCA	chr2	44121732	44121732	C	G	Missense_Mutation	p.E1313Q	3
LRPPRC	ESCA	chr2	44190798	44190798	C	G	Missense_Mutation	p.D473H	3
LRPPRC	PAAD	chr2	44121724	44121724	A	G	Silent	p.N1315N	3
LRPPRC	BRCA	chr2	44174410	44174410	G	A	Missense_Mutation	p.L689F	3
LRPPRC	PAAD	chr2	44132886	44132886	G	A	Silent	p.N1103N	3
LRPPRC	KIRP	chr2	44116985	44116985	G	A	Missense_Mutation	p.A1339V	3
LRPPRC	LIHC	chr2	44176800	44176800	T	G	Splice_Site		3
LRPPRC	UCEC	chr2	44175302	44175302	G	A	Missense_Mutation	p.R627C	3
LRPPRC	BRCA	chr2	44190742	44190742	T	-	Frame_Shift_Del	p.R492fs	3
LRPPRC	UCS	chr2	44170828	44170828	T	G	Missense_Mutation	p.E834D	3
LRPPRC	KIRP	chr2	44116986	44116986	C	G	Missense_Mutation	p.A1339P	3
LRPPRC	BRCA	chr2	44202316	44202316	C	G	Missense_Mutation	p.D260H	3
LRPPRC	TGCT	chr2	44209477	44209477	C	T	Silent		3
LRPPRC	LIHC	chr2	44173371	44173371	T	-	Frame_Shift_Del	p.K697fs	3
LRPPRC	CESC	chr2	44145442	44145442	C	T	Missense_Mutation		3
LRPPRC	ESCA	chr2	44128499	44128499	T	C	Missense_Mutation	p.M1177V	3
LRPPRC	LIHC	chr2	44162019	44162019	T	A	Splice_Site		3
LRPPRC	LIHC	chr2	44200754	44200754	T	-	Frame_Shift_Del	p.N454fs	3
LRPPRC	LIHC	chr2	44209402	44209402	T	-	Frame_Shift_Del	p.K107fs	3
LRPPRC	ESCA	chr2	44170940	44170940	G	A	Missense_Mutation	p.A797V	3
LRPPRC	THCA	chr2	44145498	44145498	T	C	Missense_Mutation	p.N979S	2
LRPPRC	COAD	chr2	44209477	44209477	C	T	Silent	p.Q82Q	2
LRPPRC	UCEC	chr2	44170950	44170950	T	G	Missense_Mutation	p.N794H	2
LRPPRC	HNSC	chr2	44145429	44145429	T	A	Missense_Mutation	p.E1002V	2
LRPPRC	SKCM	chr2	44203350	44203350	C	T	Missense_Mutation	p.M223I	2
LRPPRC	PAAD	chr2	44132886	44132886	G	A	Silent		2
LRPPRC	UCEC	chr2	44209567	44209567	T	G	Silent	p.L52	2
LRPPRC	HNSC	chr2	44162018	44162018	C	A	Splice_Site		2
LRPPRC	UCEC	chr2	44173257	44173257	T	A	Missense_Mutation	p.E735D	2
LRPPRC	HNSC	chr2	44204310	44204310	T	C	Missense_Mutation	p.N192S	2
LRPPRC	SKCM	chr2	44152287	44152287	G	A	Silent	p.L939L	2
LRPPRC	SARC	chr2	44175568	44175568	G	A	Missense_Mutation	p.H609Y	2
LRPPRC	UCEC	chr2	44173295	44173295	G	A	Nonsense_Mutation	p.R723*	2
LRPPRC	ESCA	chr2	44177716	44177716	C	T	Missense_Mutation	p.S558N	2
LRPPRC	SKCM	chr2	44128516	44128516	G	A	Missense_Mutation	p.S1171F	2
LRPPRC	CESC	chr2	44175607	44175607	C	G	Missense_Mutation		2
LRPPRC	SKCM	chr2	44200775	44200775	A	G	Missense_Mutation	p.V447A	2
LRPPRC	UCEC	chr2	44175658	44175658	C	A	Splice_Site	e17-1	2
LRPPRC	HNSC	chr2	44174430	44174430	A	-	Frame_Shift_Del	p.L682fs	2
LRPPRC	CESC	chr2	44177733	44177733	C	G	Missense_Mutation		2
LRPPRC	SKCM	chr2	44121759	44121759	C	T	Missense_Mutation	p.V1304M	2
LRPPRC	BLCA	chr2	44170868	44170868	G	A	Missense_Mutation	p.S821F	2
LRPPRC	UCEC	chr2	44187771	44187771	T	G	Missense_Mutation	p.E497D	2
LRPPRC	LIHC	chr2	44128643	44128643	T	-	Frame_Shift_Del	p.T1129fs	2
LRPPRC	CESC	chr2	44176759	44176759	C	T	Missense_Mutation		2
LRPPRC	UCS	chr2	44187698	44187698	C	A	Missense_Mutation	p.D522Y	2
LRPPRC	ACC	chr2	44145165	44145165	T	-	Frame_Shift_Del	p.G1050fs	2
LRPPRC	UCEC	chr2	44190793	44190793	C	A	Missense_Mutation	p.Q474H	2
LRPPRC	ESCA	chr2	44170940	44170940	G	A	Missense_Mutation		2
LRPPRC	LIHC	chr2	44132899	44132899	C	-	Frame_Shift_Del	p.G1099fs	2
LRPPRC	STAD	chr2	44126409	44126409	G	A	Silent		2
LRPPRC	CESC	chr2	44175557	44175557	C	T	Silent		2
LRPPRC	UCEC	chr2	44115743	44115743	G	T	Missense_Mutation	p.S1394Y	2
LRPPRC	HNSC	chr2	44121770	44121770	T	C	Splice_Site		2
LRPPRC	SKCM	chr2	44153096	44153096	G	A	Missense_Mutation	p.P914L	2
LRPPRC	BLCA	chr2	44161983	44161983	C	T	Missense_Mutation	p.D847N	2
LRPPRC	UCEC	chr2	44201430	44201430	T	C	Silent	p.A338	2
LRPPRC	ESCA	chr2	44128499	44128499	T	C	Missense_Mutation		2
LRPPRC	KICH	chr2	44139675	44139675	A	T	Missense_Mutation	p.N1057K	2
LRPPRC	LIHC	chr2	44161963	44161963	T	-	Frame_Shift_Del	p.K853fs	2
LRPPRC	STAD	chr2	44187750	44187750	A	G	Silent	p.S504S	2
LRPPRC	CESC	chr2	44145397	44145397	C	T	Missense_Mutation		2
LRPPRC	UCEC	chr2	44128511	44128511	C	T	Missense_Mutation	p.G1173R	2
LRPPRC	ESCA	chr2	44126659	44126659	C	T	Missense_Mutation	p.A1219T	2
LRPPRC	HNSC	chr2	44209515	44209515	C	G	Missense_Mutation	p.E70Q	2
LRPPRC	THCA	chr2	44201428	44201428	A	T	Missense_Mutation		2
LRPPRC	CESC	chr2	44123818	44123818	C	T	Silent		2
LRPPRC	UCEC	chr2	44204165	44204165	A	C	Silent	p.S206	2
LRPPRC	ESCA	chr2	44187730	44187730	C	A	Missense_Mutation		2
LRPPRC	STAD	chr2	44153069	44153069	A	C	Missense_Mutation	p.L923R	2
LRPPRC	UCEC	chr2	44128599	44128599	G	T	Silent	p.T1143	2
LRPPRC	HNSC	chr2	44209427	44209427	C	T	Missense_Mutation	p.R99H	2
LRPPRC	UCEC	chr2	44204348	44204348	G	T	Missense_Mutation	p.F179L	2
LRPPRC	ESCA	chr2	44190798	44190798	C	G	Missense_Mutation		2
LRPPRC	STAD	chr2	44175646	44175646	A	G	Missense_Mutation	p.Y583H	2
LRPPRC	CESC	chr2	44190816	44190816	C	A	Nonsense_Mutation	p.E467*	2
LRPPRC	UCEC	chr2	44145412	44145412	G	A	Missense_Mutation	p.P1008S	2
LRPPRC	HNSC	chr2	44161341	44161341	C	T	Silent	p.K908K	2
LRPPRC	LIHC	chr2	44209519	44209519	A	G	Silent	p.I68I	2
LRPPRC	SKCM	chr2	44201417	44201417	A	T	Missense_Mutation	p.L343I	2
LRPPRC	CESC	chr2	44161914	44161914	C	T	Missense_Mutation		2
LRPPRC	UCEC	chr2	44209440	44209440	G	A	Nonsense_Mutation	p.R95*	2
LRPPRC	KIRC	chr2	44145201	44145201	T	A	Missense_Mutation	p.K1037N	2
LRPPRC	SARC	chr2	44175568	44175568	G	A	Missense_Mutation		2
LRPPRC	HNSC	chr2	44128664	44128664	C	G	Splice_Site		2
LRPPRC	UCEC	chr2	44145508	44145508	C	T	Missense_Mutation	p.A976T	2
LRPPRC	HNSC	chr2	44116941	44116941	G	C	Missense_Mutation	p.L1354V	2
LRPPRC	PAAD	chr2	44121724	44121724	A	G	Silent		2
LRPPRC	CESC	chr2	44190814	44190814	T	A	Missense_Mutation		2
LRPPRC	UCEC	chr2	44209551	44209551	G	A	Silent	p.L58	2
LRPPRC	LGG	chr2	44173377	44173377	C	T	Missense_Mutation	p.M695I	1
LRPPRC	LIHC	chr2	44153092	44153092	C	-	Frame_Shift_Del	p.G915fs	1
LRPPRC	SARC	chr2	44175301	44175301	C	T	Missense_Mutation		1
LRPPRC	STAD	chr2	44206987	44206987	T	C	Missense_Mutation	p.I149M	1
LRPPRC	BLCA	chr2	44152234	44152234	C	G	Missense_Mutation	p.Q956H	1
LRPPRC	CESC	chr2	44190816	44190816	C	A	Nonsense_Mutation		1
LRPPRC	HNSC	chr2	44116941	44116941	G	C	Missense_Mutation		1
LRPPRC	BLCA	chr2	44162006	44162006	G	A	Missense_Mutation	p.S839F	1
LRPPRC	COAD	chr2	44128483	44128483	T	C	Missense_Mutation	p.N1182S	1
LRPPRC	LIHC	chr2	44162019	44162019	T	A	Splice_Site	.	1
LRPPRC	LUAD	chr2	44201883	44201883	C	A	Silent	p.V293V	1
LRPPRC	SKCM	chr2	44145436	44145436	G	A	Missense_Mutation	p.L1000F	1
LRPPRC	BLCA	chr2	44139644	44139644	C	T	Missense_Mutation		1
LRPPRC	ESCA	chr2	44201863	44201863	A	T	Missense_Mutation	p.L300H	1
LRPPRC	KIRC	chr2	44145522	44145522	C	T	Nonsense_Mutation	p.W971*	1
LRPPRC	LIHC	chr2	44145462	44145462	T	-	Frame_Shift_Del	p.K991fs	1
LRPPRC	LGG	chr2	44209388	44209388	G	A	Missense_Mutation		1
LRPPRC	LIHC	chr2	44209396	44209396	A	-	Frame_Shift_Del	p.F109fs	1
LRPPRC	SARC	chr2	44184564	44184564	G	T	Missense_Mutation		1
LRPPRC	STAD	chr2	44200831	44200831	C	T	Silent	p.K428K	1
LRPPRC	BLCA	chr2	44176792	44176792	C	A	Nonsense_Mutation	p.E562*	1
LRPPRC	CESC	chr2	44145397	44145397	C	T	Missense_Mutation	p.E1013K	1
LRPPRC	THYM	chr2	44202327	44202327	G	T	Missense_Mutation		1
LRPPRC	COAD	chr2	44209565	44209565	A	G	Missense_Mutation	p.L53P	1
LRPPRC	COAD	chr2	44161386	44161386	A	G	Silent	p.D893D	1
LRPPRC	LIHC	chr2	44152227	44152227	A	G	Missense_Mutation	p.Y959H	1
LRPPRC	LUAD	chr2	44170944	44170944	C	A	Missense_Mutation	p.A796S	1
LRPPRC	LUSC	chr2	44161358	44161358	T	A	Missense_Mutation	p.N903Y	1
LRPPRC	SKCM	chr2	44209439	44209439	C	T	Missense_Mutation	p.R95Q	1
LRPPRC	BLCA	chr2	44161983	44161983	C	T	Missense_Mutation		1
LRPPRC	UCS	chr2	44170828	44170828	T	G	Missense_Mutation		1
LRPPRC	ESCA	chr2	44190729	44190729	G	A	Nonsense_Mutation	p.Q496X	1
LRPPRC	KIRC	chr2	44175571	44175571	A	G	Missense_Mutation	p.F608L	1
LRPPRC	LIHC	chr2	44170920	44170920	T	-	Frame_Shift_Del	p.T804fs	1
LRPPRC	LGG	chr2	44201809	44201809	G	T	Missense_Mutation		1
LRPPRC	LIHC	chr2	44209525	44209525	T	-	Frame_Shift_Del	p.K66fs	1
LRPPRC	STAD	chr2	44171034	44171034	C	T	Splice_Site	p.D766_splice	1
LRPPRC	BLCA	chr2	44209417	44209417	C	G	Missense_Mutation	p.K102N	1
LRPPRC	CESC	chr2	44161914	44161914	C	T	Missense_Mutation	p.E870K	1
LRPPRC	THYM	chr2	44116893	44116893	C	T	Missense_Mutation	p.V1370I	1
LRPPRC	COAD	chr2	44161915	44161915	G	A	Silent	p.G869G	1
LRPPRC	HNSC	chr2	44209427	44209427	C	T	Missense_Mutation		1
LRPPRC	COAD	chr2	44200766	44200766	C	T	Missense_Mutation	p.R450Q	1
LRPPRC	HNSC	chr2	44201421	44201421	G	A	Silent	p.L341L	1
LRPPRC	LIHC	chr2	44201378	44201378	G	A	Nonsense_Mutation	p.Q356*	1
LRPPRC	LUAD	chr2	44203337	44203337	G	A	Missense_Mutation	p.L228F	1
LRPPRC	LUSC	chr2	44153051	44153051	C	T	Missense_Mutation	p.R929K	1
LRPPRC	SKCM	chr2	44171034	44171034	C	T	Splice_Site		1
LRPPRC	BLCA	chr2	44132877	44132877	G	A	Silent		1
LRPPRC	UCS	chr2	44187698	44187698	C	A	Missense_Mutation		1
LRPPRC	LIHC	chr2	44177711	44177711	C	-	Splice_Site		1
LRPPRC	HNSC	chr2	44145429	44145429	T	A	Missense_Mutation		1
LRPPRC	LIHC	chr2	44200761	44200761	C	T	Missense_Mutation		1
LRPPRC	STAD	chr2	44139618	44139618	T	G	Missense_Mutation	p.L1076F	1
LRPPRC	BLCA	chr2	44176792	44176792	C	T	Missense_Mutation	p.E562K	1
LRPPRC	CESC	chr2	44175557	44175557	C	T	Silent	p.E612	1
LRPPRC	DLBC	chr2	44175293	44175293	G	A	Silent	p.L630L	1
LRPPRC	ESCA	chr2	44190729	44190729	G	A	Nonsense_Mutation	p.Q496*	1
LRPPRC	LIHC	chr2	44115779	44115780	-	A	Frame_Shift_Ins	p.C1382fs	1
LRPPRC	LUAD	chr2	44201894	44201894	G	A	Silent	p.L290L	1
LRPPRC	LUSC	chr2	44184548	44184548	C	A	Missense_Mutation	p.S542I	1
LRPPRC	SKCM	chr2	44123799	44123799	G	A	Missense_Mutation	p.L1292F	1
LRPPRC	SKCM	chr2	44126743	44126743	T	C	Splice_Site	p.N1191_splice	1
LRPPRC	BLCA	chr2	44209440	44209440	G	T	Silent		1
LRPPRC	GBM	chr2	44152273	44152273	C	A	Silent	p.V943V	1
LRPPRC	KIRP	chr2	44203320	44203320	T	A	Silent	p.A233A	1
LRPPRC	LIHC	chr2	44123774	44123774	T	-	Splice_Site	p.K1300_splice	1
LRPPRC	DLBC	chr2	44172496	44172496	T	C	Silent	p.V757V	1
LRPPRC	HNSC	chr2	44204310	44204310	T	C	Missense_Mutation		1
LRPPRC	LIHC	chr2	44203370	44203370	T	C	Splice_Site		1
LRPPRC	LUAD	chr2	44204192	44204192	C	T	Splice_Site		1
LRPPRC	STAD	chr2	44139614	44139614	T	C	Missense_Mutation	p.M1078V	1
LRPPRC	CESC	chr2	44175581	44175581	C	G	Missense_Mutation	p.L604F	1
LRPPRC	UCEC	chr2	44184535	44184535	T	C	Silent	p.L546L	1
LRPPRC	ESCA	chr2	44126659	44126659	C	T	Missense_Mutation		1
LRPPRC	HNSC	chr2	44162018	44162018	C	A	Splice_Site	p.K835_splice	1
LRPPRC	LUAD	chr2	44132909	44132909	G	A	Missense_Mutation	p.H1096Y	1
LRPPRC	LUSC	chr2	44115753	44115753	C	A	Nonsense_Mutation	p.E1391*	1
LRPPRC	SKCM	chr2	44190832	44190832	G	A	Silent	p.I461I	1
LRPPRC	PRAD	chr2	44121719	44121719	T	C	Missense_Mutation	p.K1317R	1
LRPPRC	SKCM	chr2	44175319	44175319	T	C	Missense_Mutation	p.N621S	1
LRPPRC	BLCA	chr2	44209439	44209439	C	G	Missense_Mutation		1
LRPPRC	GBM	chr2	44203309	44203309	G	A	Missense_Mutation	p.A237V	1
LRPPRC	KIRP	chr2	44116985	44116985	G	A	Missense_Mutation		1
LRPPRC	LIHC	chr2	44126410	44126410	A	-	Frame_Shift_Del	p.F1258fs	1
LRPPRC	DLBC	chr2	44201317	44201317	A	C	Missense_Mutation	p.F376C	1
LRPPRC	HNSC	chr2	44201421	44201421	G	A	Silent		1
LRPPRC	LIHC	chr2	44115754	44115754	C	A	Missense_Mutation		1
LRPPRC	LUAD	chr2	44145421	44145421	G	T	Missense_Mutation	p.Q1005K	1
LRPPRC	SKCM	chr2	44171034	44171034	C	T	Splice_Site	.	1
LRPPRC	STAD	chr2	44206987	44206987	T	C	Missense_Mutation		1
LRPPRC	BLCA	chr2	44139644	44139644	C	T	Missense_Mutation	p.E1068K	1
LRPPRC	CESC	chr2	44175581	44175581	C	T	Silent	p.L604	1
LRPPRC	UCEC	chr2	44145183	44145183	G	A	Silent	p.C1043C	1
LRPPRC	BRCA	chr2	44176743	44176743	G	A	Missense_Mutation	p.T578M	1
LRPPRC	KICH	chr2	44139675	44139675	A	T	Missense_Mutation		1
LRPPRC	LUAD	chr2	44190820	44190821	-	A	Frame_Shift_Ins	p.T465fs	1
LRPPRC	LUSC	chr2	44139579	44139579	C	G	Silent	p.V1089V	1
LRPPRC	SKCM	chr2	44145207	44145207	G	A	Silent	p.F1035F	1
LRPPRC	READ	chr2	44115746	44115746	G	T	Missense_Mutation	p.S1393Y	1
LRPPRC	BLCA	chr2	44207058	44207058	G	C	Missense_Mutation		1
LRPPRC	UVM	chr2	44145165	44145165	T	C	Silent	p.K1049K	1
LRPPRC	GBM	chr2	44152273	44152273	C	A	Silent		1
LRPPRC	KIRP	chr2	44139609	44139609	T	C	Silent	p.S1079S	1
LRPPRC	KIRP	chr2	44116986	44116986	C	G	Missense_Mutation		1
LRPPRC	LIHC	chr2	44153058	44153058	A	-	Frame_Shift_Del	p.C927fs	1
LRPPRC	DLBC	chr2	44201315	44201315	A	T	Missense_Mutation	p.L377I	1
LRPPRC	LIHC	chr2	44204378	44204378	A	G	Silent		1
LRPPRC	CESC	chr2	44175607	44175607	C	G	Missense_Mutation	p.E596Q	1
LRPPRC	OV	chr2	44026844	44026844	C	T	Missense_Mutation		1
LRPPRC	SKCM	chr2	44174915	44174915	C	T	Splice_Site		1
LRPPRC	BLCA	chr2	44209518	44209518	G	C	Missense_Mutation		1
LRPPRC	BRCA	chr2	44209389	44209389	T	G	Missense_Mutation	p.T112P	1
LRPPRC	LUAD	chr2	44201338	44201338	G	-	Frame_Shift_Del	p.P369fs	1
LRPPRC	KIRP	chr2	44139638	44139638	A	G	Missense_Mutation		1
LRPPRC	LIHC	chr2	44209500	44209500	A	-	Frame_Shift_Del	p.S76fs	1
LRPPRC	READ	chr2	44170992	44170992	G	A	Missense_Mutation	p.L780F	1
LRPPRC	BLCA	chr2	44162006	44162006	G	A	Missense_Mutation		1
LRPPRC	HNSC	chr2	44174430	44174430	A	-	Frame_Shift_Del		1
LRPPRC	LIHC	chr2	44209519	44209519	A	G	Silent		1
LRPPRC	LUAD	chr2	44132864	44132864	T	G	Missense_Mutation	p.I1111L	1
LRPPRC	SKCM	chr2	44126743	44126743	T	C	Missense_Mutation	p.N1191D	1
LRPPRC	BLCA	chr2	44174875	44174875	G	C	Missense_Mutation	p.Q654E	1
LRPPRC	CESC	chr2	44190814	44190814	T	A	Missense_Mutation	p.E467D	1
LRPPRC	OV	chr2	44171017	44171017	C	T	Silent	p.L771L	1
LRPPRC	SKCM	chr2	44145397	44145397	C	A	Nonsense_Mutation	p.E1013*	1
LRPPRC	BLCA	chr2	44152234	44152234	C	G	Missense_Mutation		1
LRPPRC	KIRC	chr2	44209499	44209499	G	T	Missense_Mutation	p.S75Y	1
LRPPRC	LUAD	chr2	44204192	44204192	C	T	Splice_Site	p.V198_splice	1
LRPPRC	KIRP	chr2	44207047	44207047	A	G	Silent		1
LRPPRC	LIHC	chr2	44123782	44123782	T	-	Frame_Shift_Del	p.K1297fs	1
LRPPRC	SARC	chr2	44201376	44201376	T	C	Silent		1
LRPPRC	BLCA	chr2	44209518	44209518	G	C	Missense_Mutation	p.Q69E	1
LRPPRC	HNSC	chr2	44174428	44174428	T	C	Missense_Mutation		1
LRPPRC	LUAD	chr2	44204416	44204416	C	A	Splice_Site		1
LRPPRC	SKCM	chr2	44187737	44187737	G	A	Nonsense_Mutation	p.Q509X	1
LRPPRC	THCA	chr2	44174896	44174896	C	G	Missense_Mutation		1
LRPPRC	BLCA	chr2	44170906	44170906	C	T	Silent	p.L808L	1
LRPPRC	CESC	chr2	44123818	44123818	C	T	Silent	p.P1285	1
LRPPRC	OV	chr2	43970390	43970390	A	C	Missense_Mutation	p.F1372C	1
LRPPRC	SKCM	chr2	44184566	44184566	G	T	Nonsense_Mutation	p.S536*	1
LRPPRC	BLCA	chr2	44209417	44209417	C	G	Missense_Mutation		1
LRPPRC	CESC	chr2	44123821	44123821	G	T	Silent		1
LRPPRC	KIRC	chr2	44201856	44201856	G	T	Missense_Mutation	p.D302E	1
LRPPRC	LUAD	chr2	44204416	44204416	C	A	Splice_Site	p.G157_splice	1
LRPPRC	LGG	chr2	44139612	44139612	C	A	Missense_Mutation	p.M1078I	1
LRPPRC	LIHC	chr2	44139682	44139682	A	-	Frame_Shift_Del	p.F1055fs	1
LRPPRC	SARC	chr2	44152236	44152236	G	T	Missense_Mutation		1
LRPPRC	BLCA	chr2	44209479	44209479	G	A	Nonsense_Mutation	p.Q82*	1
LRPPRC	COAD	chr2	44204379	44204379	A	C	Missense_Mutation	p.L169R	1
LRPPRC	HNSC	chr2	44161341	44161341	C	T	Silent		1
LRPPRC	ESCA	chr2	44145165	44145165	T	-	Frame_Shift_Del	p.A1051fs	1
LRPPRC	LUAD	chr2	44139605	44139605	C	A	Missense_Mutation	p.D1081Y	1
LRPPRC	THCA	chr2	44174896	44174896	C	G	Missense_Mutation	p.E647Q	1
LRPPRC	BLCA	chr2	44209439	44209439	C	G	Missense_Mutation	p.R95P	1
LRPPRC	CESC	chr2	44177733	44177733	C	G	Missense_Mutation	p.M552I	1
LRPPRC	OV	chr2	44028779	44028779	G	C	Missense_Mutation	p.P636A	1
LRPPRC	SKCM	chr2	44116891	44116891	G	A	Silent	p.V1370V	1
LRPPRC	BLCA	chr2	44176792	44176792	C	T	Missense_Mutation		1
LRPPRC	ESCA	chr2	44190793	44190793	C	T	Silent	p.Q474Q	1
LRPPRC	LUAD	chr2	44204415	44204415	C	A	Missense_Mutation	p.G157V	1
LRPPRC	LGG	chr2	44209388	44209388	G	A	Missense_Mutation	p.T112I	1
LRPPRC	LIHC	chr2	44145476	44145476	A	-	Frame_Shift_Del	p.V986fs	1
LRPPRC	STAD	chr2	44126409	44126409	G	A	Silent	p.F1258F	1
LRPPRC	BLCA	chr2	44145529	44145529	C	G	Missense_Mutation	p.G969R	1
LRPPRC	CESC	chr2	44123818	44123818	C	T	Silent	p.P1285P	1
LRPPRC	COAD	chr2	44206982	44206982	T	C	Missense_Mutation	p.D151G	1
LRPPRC	LIHC	chr2	44187687	44187687	T	A	Missense_Mutation	p.L525F	1
LRPPRC	LUAD	chr2	44204415	44204415	C	A	Splice_Site	p.G157_splice	1
LRPPRC	SKCM	chr2	44145268	44145268	C	A	Missense_Mutation	p.W1015L	1
LRPPRC	BLCA	chr2	44207058	44207058	G	C	Missense_Mutation	p.L126V	1
LRPPRC	COAD	chr2	44121753	44121753	A	G	Missense_Mutation	p.S1306P	1
LRPPRC	SKCM	chr2	44187737	44187737	G	A	Nonsense_Mutation	p.Q509*	1
LRPPRC	BLCA	chr2	44170868	44170868	G	A	Missense_Mutation		1
LRPPRC	ESCA	chr2	44121769	44121769	C	A	Splice_Site	.	1
LRPPRC	KIRC	chr2	44176772	44176772	T	A	Silent	p.G568G	1
LRPPRC	LIHC	chr2	44121719	44121719	T	-	Frame_Shift_Del	p.K1317fs	1
LRPPRC	LUAD	chr2	44204152	44204152	C	T	Missense_Mutation	p.G211R	1

Copy number variation (CNV) of LRPPRC
* Click on the image to open the original image in a new window.

Fusion gene breakpoints (product of the structural variants (SVs)) across LRPPRC
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion genes with this translation factor from FusionGDB2.0.

FusionGDB2 ID	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
75106	N/A	BI497360	COL3A1	chr2	189877471	+	LRPPRC	chr2	44125183	+
75106	UCEC	TCGA-A5-A1OH	CRIM1	chr2	36583766	+	LRPPRC	chr2	44145537	-
75106	N/A	BF735164	CYP4F12	chr19	15795356	-	LRPPRC	chr2	44115457	-
75106	N/A	DB349473	HACL1	chr3	15602404	+	LRPPRC	chr2	44152205	+
75106	ESCA	TCGA-V5-AASW	IGSF1	chrX	130420578	-	LRPPRC	chr2	44139697	-
75106	STAD	TCGA-HU-A4GY-01A	IL7R	chr5	35867565	+	LRPPRC	chr2	44171033	-
81064	N/A	BF994360	LRPPRC	chr2	44126431	+	ADAM12	chr10	127712284	-
100993	N/A	BE706701	LRPPRC	chr2	44117101	+	ARL15	chr5	53301202	+
98960	STAD	TCGA-HU-A4GT	LRPPRC	chr2	44222937	-	ATP5C1	chr10	7848936	+
98960	STAD	TCGA-HU-A4GT-01A	LRPPRC	chr2	44222938	-	ATP5C1	chr10	7848937	+
98263	UCEC	TCGA-EY-A3QX-01A	LRPPRC	chr2	44139570	-	CAMKMT	chr2	44626927	-
98263	UCEC	TCGA-EY-A3QX-01A	LRPPRC	chr2	44139570	-	CAMKMT	chr2	44629112	-
49860	BRCA	TCGA-OL-A66I-01A	LRPPRC	chr2	44161329	-	CYTIP	chr2	158300518	-
102259	BRCA	TCGA-E9-A1NE-01A	LRPPRC	chr2	44123773	-	EIF4G2	chr11	10820660	-
92750	N/A	BI905820	LRPPRC	chr2	44209547	-	GPC3	chrX	132669958	-
99144	N/A	N67395	LRPPRC	chr2	44115789	+	GPD2	chr2	157375968	+
75106	N/A	CR743262	LRPPRC	chr2	44128368	+	LRPPRC	chr2	44123774	+
101382	THCA	TCGA-EM-A2CR	LRPPRC	chr2	44222937	-	NDUFB2	chr7	140402665	+
87117	BRCA	TCGA-BH-A0E2-01A	LRPPRC	chr2	44152206	-	NRXN1	chr2	51153093	-
88741	BRCA	TCGA-E2-A14T-01A	LRPPRC	chr2	44161329	-	TAF15	chr17	34161570	+
102251	CESC	TCGA-2W-A8YY-01A	LRPPRC	chr2	44126358	-	THADA	chr2	43460021	-
75106	STAD	TCGA-BR-8059-01A	MAGI2	chr7	79082336	-	LRPPRC	chr2	44184590	-
75106	N/A	CD656251	MID1	chrX	10416903	-	LRPPRC	chr2	44132392	-
75106	N/A	AA420492	NADSYN1	chr11	71175623	+	LRPPRC	chr2	44117582	-
75106	N/A	BF090448	PPM1K	chr4	89182212	-	LRPPRC	chr2	44115688	-
75106	N/A	AI392841	PRSS23	chr11	86519939	-	LRPPRC	chr2	44184155	+
75110	N/A	DA756048	RNF43	chr17	56494695	-	LRPPRC	chr2	44121739	-

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Prognostic Analysis

Kaplan-Meier plots with logrank tests of overall survival (OS)

Cancer type

Translation factor

Coefficent

Hazard ratio

Wald test pval

Likelihool ratio pval

Logrank test pval

# samples

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Translation factor and Gender

Differential gene expression between female and male. (Wilcoxon test, pval<0.05)

Cancer type	Translation factor	pval	adj.p
KIRP	LRPPRC	0.00181689848669117	0.051
TGCT	LRPPRC	0.0027499860003839	0.074
LUAD	LRPPRC	0.00291198056572605	0.076
GBM	LRPPRC	0.0121590923416617	0.3
LUSC	LRPPRC	0.0238387808302977	0.57
READ	LRPPRC	0.0388293673728224	0.89
SARC	LRPPRC	0.0433025048080278	0.95

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Translation factor and Age

Differential gene expression between young and old age groups (Wilcoxon test, pval<0.05)

Cancer type	Translation factor	pval	adj.p
LUSC	LRPPRC	0.00237115251083605	0.078
BRCA	LRPPRC	0.0284864798455098	0.91
UCEC	LRPPRC	0.0464989419997733	1

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Related Drugs

Drugs targeting genes involved in this translation factor.
(DrugBank Version 5.1.8 2021-05-08)

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases

Diseases associated with this translation factor.
(DisGeNet 4.0)

Disease ID	Disease Name	# PubMeds	Disease source
C0023264	Leigh Disease	8	CLINGEN
C1838951	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	8	CLINGEN
C1850597	Leigh Syndrome Due To Mitochondrial Complex II Deficiency	8	CLINGEN
C1850598	Leigh Syndrome due to Mitochondrial Complex III Deficiency	8	CLINGEN
C1850599	Leigh Syndrome due to Mitochondrial Complex IV Deficiency	8	CLINGEN
C1850600	Leigh Syndrome due to Mitochondrial Complex V Deficiency	8	CLINGEN
C2931891	Necrotizing encephalopathy, infantile subacute, of Leigh	8	CLINGEN
C1857355	Leigh syndrome , French Canadian type	4	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT