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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: RARS2 (NCBI Gene ID:57038)

Gene Summary

Gene Summary

Gene Information	Gene Name: RARS2
	Gene ID: 57038
	Gene Symbol	RARS2
	Gene ID	57038
	Gene Name	arginyl-tRNA synthetase 2, mitochondrial
	Synonyms	ArgRS\|DALRD2\|PCH6\|PRO1992\|RARSL
	Cytomap	6q15
	Type of Gene	protein-coding
	Description	probable arginine--tRNA ligase, mitochondrialprobable arginyl-tRNA synthetase, mitochondrial
	Modification date	20200313
	UniProtAcc	Q5T160

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

GO ID	GO term
GO:0032543	Mitochondrial translation
GO:0006418	tRNA aminoacylation for protein 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
RARS2	>1119.25

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Translation Studies in PubMed

We searched PubMed using 'RARS2[title] AND translation [title] AND human.'

Gene	Title	PMID
RARS2	.	.

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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
ENST00000369536	88224674	88224738	Frame-shift
ENST00000369536	88226523	88226598	In-frame
ENST00000369536	88227886	88227982	In-frame
ENST00000369536	88229300	88229425	Frame-shift
ENST00000369536	88234274	88234370	In-frame
ENST00000369536	88239259	88239366	Frame-shift
ENST00000369536	88240501	88240660	In-frame
ENST00000369536	88251635	88251712	Frame-shift
ENST00000369536	88255333	88255417	In-frame
ENST00000369536	88258308	88258364	Frame-shift
ENST00000369536	88265125	88265223	Frame-shift
ENST00000369536	88272419	88272503	In-frame

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)
ENST00000369536	88226523	88226598	1835	1558	1632	578	504	528
ENST00000369536	88227886	88227982	1835	1462	1557	578	472	503
ENST00000369536	88234274	88234370	1835	925	1020	578	293	324
ENST00000369536	88240501	88240660	1835	659	817	578	204	257
ENST00000369536	88255333	88255417	1835	498	581	578	150	178
ENST00000369536	88272419	88272503	1835	260	343	578	71	99

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.
Q5T160	71	99	17	578	Chain	ID=PRO_0000250731;Note=Probable arginine--tRNA ligase%2C mitochondrial
Q5T160	150	178	17	578	Chain	ID=PRO_0000250731;Note=Probable arginine--tRNA ligase%2C mitochondrial
Q5T160	204	257	17	578	Chain	ID=PRO_0000250731;Note=Probable arginine--tRNA ligase%2C mitochondrial
Q5T160	504	528	17	578	Chain	ID=PRO_0000250731;Note=Probable arginine--tRNA ligase%2C mitochondrial
Q5T160	472	503	17	578	Chain	ID=PRO_0000250731;Note=Probable arginine--tRNA ligase%2C mitochondrial
Q5T160	293	324	17	578	Chain	ID=PRO_0000250731;Note=Probable arginine--tRNA ligase%2C mitochondrial
Q5T160	293	324	322	322	Binding site	Note=L-arginine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P54136

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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
LUSC	RARS2	1.87851633718952	0.00105278618568408
KIRP	RARS2	-1.62015129839089	0.00733334058895707

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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
LUSC	RARS2	0.1363399	0.011063014
LIHC	RARS2	0.058029231	0.045460799

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Associated Genes

Strongly correlated genes belong to cellular important gene groups with RARS2 (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
CHOL	Cell metabolism gene	RARS2	CCNC	0.804032297	2.91E-11
CHOL	CGC	RARS2	CCNC	0.804032297	2.91E-11
CHOL	TSG	RARS2	CCNC	0.804032297	2.91E-11
GBM	Cell metabolism gene	RARS2	CCNC	0.805733998	1.61E-40
GBM	CGC	RARS2	CCNC	0.805733998	1.61E-40
GBM	TSG	RARS2	CCNC	0.805733998	1.61E-40
SKCM	Cell metabolism gene	RARS2	CCNC	0.816870654	7.30E-115
SKCM	CGC	RARS2	CCNC	0.816870654	7.30E-115
SKCM	TSG	RARS2	CCNC	0.816870654	7.30E-115
UVM	Cell metabolism gene	RARS2	NUP43	0.837966876	3.26E-22
UVM	Cell metabolism gene	RARS2	PGM3	0.840725246	1.76E-22
UVM	CGC	RARS2	FGFR1OP	0.811314435	7.21E-20
UVM	Epifactor	RARS2	ASF1A	0.818811691	1.73E-20
UVM	IUPHAR	RARS2	IFNGR1	0.81868499	1.77E-20
UVM	IUPHAR	RARS2	KATNA1	0.825118569	4.93E-21
UVM	TF	RARS2	ZUFSP	0.85860304	2.42E-24

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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
STAD	RARS2	LARS2	-3.14243034518345	0.00019507110118866
STAD	RARS2	YARS	-6.49411565641968	0.000280400272458792
KIRP	RARS2	EARS2	2.04485161641576	0.000364991836249828
BRCA	RARS2	QARS	-4.19270554058168	0.00045278023754438
LUSC	RARS2	LARS	-1.72121981954749	0.000480107205471704
HNSC	RARS2	YARS	1.29642872422682	0.000481783007217019
THCA	RARS2	LARS2	1.46480152873302	0.000495104848866816
STAD	RARS2	EPRS	-1.48171581324647	0.000789262883452143
THCA	RARS2	QARS	-1.4601543520666	0.00171161769998529
HNSC	RARS2	YARS2	1.51758504797514	0.00498432417884942
CHOL	RARS2	IARS	-2.92341608141499	0.01171875
ESCA	RARS2	YARS2	-2.00710684466974	0.0185546875
READ	RARS2	MARS2	2.0700272473485	0.03125
HNSC	RARS2	MARS2	-1.77362037787884	0.0352341516679644
LIHC	RARS2	LARS	-1.57612943170265	1.09871251804152e-08
BRCA	RARS2	LARS2	-5.48583270161281	1.12177735729832e-06
LUAD	RARS2	LARS	-1.89171706205171	1.25525807323939e-06
THCA	RARS2	YARS	-1.52851760350795	1.38467683131598e-09
LUAD	RARS2	SARS2	-1.6825303693262	1.52668366875458e-07
LIHC	RARS2	EPRS	-7.10731017811505	2.28054594243154e-08
LUAD	RARS2	LARS2	-1.17851720308655	2.81164525558733e-06
KICH	RARS2	YARS	-2.00632816869948	2.98023223876953e-07
LUSC	RARS2	EARS2	-4.79437223180067	3.23227619897643e-09
PRAD	RARS2	QARS	1.84374784424986	3.33417295851411e-06
LIHC	RARS2	IARS	-1.16847098939898	3.43009058766818e-06
BRCA	RARS2	YARS	-2.58863291399932	3.63754942015711e-21
LUAD	RARS2	EARS2	-4.660053370012	3.79251210274868e-11
BLCA	RARS2	EARS2	-4.74352280775662	3.814697265625e-06
LUAD	RARS2	MARS2	-5.70960188117261	3.8171822568541e-09
PRAD	RARS2	MARS2	-2.3666294537261	4.0201920030313e-07
KICH	RARS2	LARS2	1.44112931619469	4.17232513427734e-06
STAD	RARS2	EARS2	-1.69983591205674	4.39747236669064e-05
KIRC	RARS2	SARS2	1.02423405449982	8.65930768143138e-05
PRAD	RARS2	EPRS	-1.76339127457265	9.52775218277559e-05

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

PPI interactors with RARS2

PHLDA3, LPAR6, CPS1, ATP12A, GFM2, PITRM1, GLS, PDPR, PCCA, PREPL, PLXDC2, MCCC1, CLN3, ARL8A, AARS2, NSDHL, NTRK1, Rhoa, IL13RA2, NPY2R, EGLN3, SNAI1, BCL2L14, NT5C3A, P2RY6, SLC15A3, Hsp22, ANKRD55, nsp6, BRD1, C21orf33, MCUR1, ICT1, MDH2, MTRF1L, SSBP1, TUFM, EXD2, nsp8, OGT, DDRGK1, COX8A, PDHA1, TRAP1, S100A6, HSPD1, PTH2R, P2RY10, FPR1, GPR182, SLC18A2, SLC2A1, GPR45, GPBAR1, PROKR1, P2RY8, AQP3, MFSD4, BSG, VIPR1, GPR55, TNFSF8, MGARP, SFTPA2, YARS2, FFAR1, GML, CELA3A, NAAA, MAGEA9, SYP, SLC1A1, EDNRB, TMEM184A, TMEM150A, FLRT1,

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Mutations

Clinically associated variants from ClinVar.

Gene	Chr	Position	RefSeq	VarSeq	RefSeeq	VarType	Pathogenic	Disease	VarInfo
RARS2	chr6	88223890	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
RARS2	chr6	88224016	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
RARS2	chr6	88224029	C	CA	Duplication	Benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
RARS2	chr6	88224029	CA	C	Deletion	Benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
RARS2	chr6	88224076	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
RARS2	chr6	88224132	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
RARS2	chr6	88224143	T	TA	Duplication	Uncertain_significance	not_specified	SO:0001575\|splice_donor_variant,SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant	SO:0001575\|splice_donor_variant,SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88224160	G	A	single_nucleotide_variant	Uncertain_significance	Pontocerebellar_hypoplasia_type_6\|Inborn_genetic_diseases	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88224176	G	C	single_nucleotide_variant	Likely_benign	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88224189	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88224190	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88224191	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88224193	C	T	single_nucleotide_variant	Uncertain_significance	Pontocerebellar_hypoplasia_type_6	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88224214	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88224225	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88224226	TAAATC	T	Deletion	Likely_benign	not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88224229	A	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88224248	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88224304	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88224467	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88224495	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88224670	C	T	single_nucleotide_variant	Likely_pathogenic	Congenital_cerebellar_hypoplasia\|Pontocerebellar_hypoplasia_type_6	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88224688	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Pontocerebellar_hypoplasia_type_6\|not_specified\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88224690	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88224696	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88224708	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88224709	A	G	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88224712	GT	G	Deletion	Pathogenic	Pontocerebellar_hypoplasia_type_6	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88224723	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88224729	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88224747	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88224748	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88226526	T	TAA	Duplication	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88226529	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88226532	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88226543	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88226546	C	T	single_nucleotide_variant	Uncertain_significance	Pontocerebellar_hypoplasia_type_6	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88226547	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88226555	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88226555	TG	T	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88226565	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88226566	T	C	single_nucleotide_variant	Likely_pathogenic	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88226589	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88226591	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88226592	G	A	single_nucleotide_variant	Likely_benign	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88226592	G	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88226595	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88226602	A	G	single_nucleotide_variant	Likely_benign	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88226604	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88226604	AGAT	A	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88226605	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88226641	A	G	single_nucleotide_variant	Benign	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88226851	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88227878	ACAT	A	Microsatellite	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88227884	T	C	single_nucleotide_variant	Uncertain_significance	Pontocerebellar_hypoplasia_type_6	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88227895	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88227906	T	C	single_nucleotide_variant	Uncertain_significance	Pontocerebellar_hypoplasia_type_6\|not_specified	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88227916	CTG	C	Microsatellite	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88227952	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88227956	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88227959	C	T	single_nucleotide_variant	Uncertain_significance	Pontoneocerebellar_hypoplasia\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88227960	C	T	single_nucleotide_variant	Uncertain_significance	not_specified	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88227966	CAA	C	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88227975	C	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88227988	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88228134	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88228193	A	AT	Duplication	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88228350	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88228353	G	T	single_nucleotide_variant	Benign/Likely_benign	Pontocerebellar_hypoplasia_type_6\|not_specified\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88228357	C	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88228358	G	A	single_nucleotide_variant	Uncertain_significance	Pontocerebellar_hypoplasia_type_6	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88228359	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88228362	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88228375	AG	A	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88228386	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88228386	T	TG	Duplication	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88228392	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88228394	C	T	single_nucleotide_variant	Uncertain_significance	Pontocerebellar_hypoplasia_type_6	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88228395	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88228395	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88228396	C	T	single_nucleotide_variant	Uncertain_significance	Pontocerebellar_hypoplasia_type_6	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88228397	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88228397	GACTCTGGAAAACACGATCCCAGCTGA	G	Deletion	Pathogenic/Likely_pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88228425	C	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88228429	T	C	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88228436	A	G	single_nucleotide_variant	Likely_pathogenic	Abnormality_of_brain_morphology	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88228437	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88228451	T	A	single_nucleotide_variant	Likely_pathogenic	Pontocerebellar_hypoplasia_type_6	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88228464	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88228465	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88228522	A	G	single_nucleotide_variant	Uncertain_significance	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88228524	G	A	single_nucleotide_variant	Benign	Pontocerebellar_hypoplasia_type_6\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88228541	C	T	single_nucleotide_variant	Pathogenic	Pontocerebellar_hypoplasia_type_6	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
RARS2	chr6	88228544	GAAT	G	Microsatellite	Uncertain_significance	Pontocerebellar_hypoplasia_type_6	SO:0001619\|non-coding_transcript_variant,SO:0001822\|inframe_deletion	SO:0001619\|non-coding_transcript_variant,SO:0001822\|inframe_deletion
RARS2	chr6	88228551	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88228560	G	A	single_nucleotide_variant	Likely_benign	not_specified\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88228563	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88228565	C	T	single_nucleotide_variant	Likely_pathogenic	Pontocerebellar_hypoplasia_type_6	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88228566	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88228571	T	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88228584	T	C	single_nucleotide_variant	Likely_benign	not_specified\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88228594	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88228652	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88228857	ATT	A	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88228866	ATATAT	A	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88228882	G	GTA	Microsatellite	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88228902	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88229132	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88229263	C	T	single_nucleotide_variant	Benign	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88229264	G	GT	Duplication	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88229291	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88229292	T	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88229300	C	T	single_nucleotide_variant	Pathogenic	Pontocerebellar_hypoplasia_type_6	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
RARS2	chr6	88229302	C	G	single_nucleotide_variant	Benign	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88229317	G	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88229327	A	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88229368	G	A	single_nucleotide_variant	Likely_benign	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88229370	C	T	single_nucleotide_variant	Uncertain_significance	Pontocerebellar_hypoplasia_type_6	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88229371	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88229382	G	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88229383	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88229386	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88229394	C	AAT	Indel	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88229395	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88229416	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88229432	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88229902	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88229915	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88229915	T	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88229924	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88229933	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88229954	CTT	C	Deletion	Likely_pathogenic	Pontocerebellar_hypoplasia_type_6	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88229966	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88229973	G	A	single_nucleotide_variant	Likely_pathogenic	Pontocerebellar_hypoplasia_type_6	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88229983	G	A	single_nucleotide_variant	Uncertain_significance	Pontocerebellar_hypoplasia_type_6	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88230110	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88230127	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88230887	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88231172	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88231172	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88231191	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Pontocerebellar_hypoplasia_type_6\|Pontoneocerebellar_hypoplasia\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88231193	T	C	single_nucleotide_variant	Pathogenic	Pontocerebellar_hypoplasia_type_6	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88231218	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88231226	T	C	single_nucleotide_variant	Benign	Pontocerebellar_hypoplasia_type_6\|not_specified\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88231256	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Pontocerebellar_hypoplasia_type_6\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88231285	C	T	single_nucleotide_variant	Benign	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88231415	T	TA	Duplication	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88231443	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88231454	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88234185	A	G	single_nucleotide_variant	Benign	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88234267	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88234277	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88234279	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88234281	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88234283	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88234284	TAG	T	Microsatellite	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88234296	C	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88234306	G	A	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88234320	A	AT	Duplication	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88234333	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88234346	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88234348	G	A	single_nucleotide_variant	Uncertain_significance	Secondary_microcephaly\|Intellectual_disability\|Seizures	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88234350	T	TC	Duplication	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88234361	C	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Pontocerebellar_hypoplasia_type_6\|not_specified\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88234361	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88234362	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88234364	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88234371	C	G	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001574\|splice_acceptor_variant,SO:0001619\|non-coding_transcript_variant	SO:0001574\|splice_acceptor_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88234376	A	G	single_nucleotide_variant	Benign	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RARS2	chr6	88234380	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RARS2	chr6	88234383	A	G	single_nucleotide_variant	Uncertain_significance	Pontocerebellar_hypoplasia_type_6	SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RARS2	chr6	88234543	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88239166	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88239241	A	C	single_nucleotide_variant	Benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88239243	T	C	single_nucleotide_variant	Benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88239250	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88239253	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88239266	T	C	single_nucleotide_variant	Benign	Pontocerebellar_hypoplasia_type_6\|not_specified\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88239271	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88239274	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88239290	A	T	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Congenital_cerebellar_hypoplasia\|Pontocerebellar_hypoplasia_type_6\|Pontoneocerebellar_hypoplasia	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88239299	A	C	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88239320	C	A	single_nucleotide_variant	Uncertain_significance	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88239320	C	G	single_nucleotide_variant	Uncertain_significance	Pontocerebellar_hypoplasia_type_6	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88239329	G	T	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88239355	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88239363	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88239365	C	T	single_nucleotide_variant	Uncertain_significance	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88239366	G	A	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88239368	TA	T	Deletion	Conflicting_interpretations_of_pathogenicity	Pontocerebellar_hypoplasia_type_6\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88239368	TAA	T	Deletion	Uncertain_significance	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88239370	A	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88239376	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88239616	TA	T	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88240202	A	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88240492	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88240495	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88240501	C	A	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
RARS2	chr6	88240516	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88240519	A	T	single_nucleotide_variant	Uncertain_significance	Pontocerebellar_hypoplasia_type_6\|not_specified\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88240534	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88240538	C	T	single_nucleotide_variant	Likely_benign	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88240541	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88240547	T	C	single_nucleotide_variant	Benign/Likely_benign	Pontocerebellar_hypoplasia_type_6\|not_specified\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88240556	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88240564	C	T	single_nucleotide_variant	Uncertain_significance	Pontocerebellar_hypoplasia_type_6	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88240570	C	T	single_nucleotide_variant	Benign	Pontocerebellar_hypoplasia_type_6\|not_specified\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88240585	A	G	single_nucleotide_variant	Likely_benign	not_specified\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88240588	G	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88240603	G	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88240613	T	G	single_nucleotide_variant	Benign/Likely_benign	Pontocerebellar_hypoplasia_type_6\|not_specified\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88240616	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88240625	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88240628	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88240632	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88240636	C	T	single_nucleotide_variant	Uncertain_significance	Pontocerebellar_hypoplasia_type_6	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88240636	CTTCT	C	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant
RARS2	chr6	88240652	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88240667	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88240669	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88240670	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88240708	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88244587	G	A	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88244648	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88244770	T	TTCTTA	Insertion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88244797	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88251437	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88251642	G	A	single_nucleotide_variant	Benign	Pontocerebellar_hypoplasia_type_6\|not_specified\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88251654	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88251660	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88251660	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88251666	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88251668	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
RARS2	chr6	88251717	C	T	single_nucleotide_variant	Uncertain_significance	Pontocerebellar_hypoplasia_type_6\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88251719	T	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88251817	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88251827	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88251869	T	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88255203	GA	G	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88255205	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88255274	A	G	single_nucleotide_variant	Likely_benign	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88255344	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88255352	C	T	single_nucleotide_variant	Likely_pathogenic	Pontocerebellar_hypoplasia_type_6	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88255365	TATTC	T	Deletion	Pathogenic	Inborn_genetic_diseases	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88255380	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88255381	T	C	single_nucleotide_variant	Uncertain_significance	Pontocerebellar_hypoplasia_type_6\|not_specified	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88255391	CTTCT	C	Deletion	Pathogenic	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88255394	CTTT	C	Deletion	Conflicting_interpretations_of_pathogenicity	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001822\|inframe_deletion,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001822\|inframe_deletion,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88255396	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88255413	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Pontocerebellar_hypoplasia_type_6\|not_specified\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88255433	GTA	G	Microsatellite	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88255438	T	C	single_nucleotide_variant	Benign	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88255499	A	AG	Insertion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88255716	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88258169	C	T	single_nucleotide_variant	Benign	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88258299	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88258300	A	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88258311	A	G	single_nucleotide_variant	Likely_pathogenic	Pontocerebellar_hypoplasia_type_6	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
RARS2	chr6	88258316	G	A	single_nucleotide_variant	Likely_benign	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
RARS2	chr6	88258318	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
RARS2	chr6	88258322	AC	A	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
RARS2	chr6	88258327	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
RARS2	chr6	88258334	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
RARS2	chr6	88258341	A	C	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Pontocerebellar_hypoplasia_type_6\|Inborn_genetic_diseases\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
RARS2	chr6	88258346	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
RARS2	chr6	88258353	A	G	single_nucleotide_variant	Uncertain_significance	Severe_intellectual_deficiency\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
RARS2	chr6	88258368	C	CA	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88258373	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88258377	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88258469	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88258607	G	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88258652	C	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88265020	AAGTTTTCC	A	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88265112	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88265116	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88265150	TG	T	Deletion	Likely_pathogenic	Pontocerebellar_hypoplasia_type_6	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88265164	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88265181	A	G	single_nucleotide_variant	Uncertain_significance	Pontocerebellar_hypoplasia_type_6	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88265182	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88265185	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88265198	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88265203	A	T	single_nucleotide_variant	Likely_benign	not_specified\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88265208	CTTG	C	Microsatellite	Uncertain_significance	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001822\|inframe_deletion,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001822\|inframe_deletion,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88265227	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88265481	TGTAG	T	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88272418	A	C	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
RARS2	chr6	88272418	AC	A	Deletion	Pathogenic	not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
RARS2	chr6	88272419	C	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
RARS2	chr6	88272423	T	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88272431	GCT	G	Microsatellite	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88272431	GCTCT	G	Microsatellite	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88272454	A	ACAGT	Duplication	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88272455	C	T	single_nucleotide_variant	Uncertain_significance	Pontocerebellar_hypoplasia_type_6	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88272472	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88272482	TCA	T	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88272483	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88272503	G	C	single_nucleotide_variant	Uncertain_significance	Pontocerebellar_hypoplasia_type_6	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88272625	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88273838	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88273843	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88273854	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Pontocerebellar_hypoplasia_type_6\|not_specified\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88273860	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88273865	T	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88273871	GA	G	Deletion	Uncertain_significance	Pontocerebellar_hypoplasia_type_6	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88273877	G	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88273899	ATT	A	Deletion	Pathogenic	not_provided	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88273906	T	A	single_nucleotide_variant	Benign	Pontocerebellar_hypoplasia_type_6\|not_specified\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88273906	T	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88273909	T	C	single_nucleotide_variant	Uncertain_significance	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88273965	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88273969	A	C	single_nucleotide_variant	Benign	Pontocerebellar_hypoplasia_type_6\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88273970	C	T	single_nucleotide_variant	Benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88273971	G	A	single_nucleotide_variant	Benign	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88273991	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88274000	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88274068	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88274145	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88274253	G	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88278941	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88279225	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88279227	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88279230	T	C	single_nucleotide_variant	Pathogenic	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88279235	T	C	single_nucleotide_variant	Uncertain_significance	Pontocerebellar_hypoplasia_type_6	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
RARS2	chr6	88279249	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
RARS2	chr6	88279267	T	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
RARS2	chr6	88279276	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
RARS2	chr6	88279282	T	C	single_nucleotide_variant	Benign/Likely_benign	Pontocerebellar_hypoplasia_type_6\|not_specified\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
RARS2	chr6	88279285	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
RARS2	chr6	88279302	TG	T	Deletion	Pathogenic/Likely_pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
RARS2	chr6	88279397	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88279611	TA	T	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88279644	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88299357	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RARS2	chr6	88299447	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
RARS2	chr6	88299631	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
RARS2	chr6	88299632	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
RARS2	chr6	88299633	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
RARS2	chr6	88299636	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
RARS2	chr6	88299639	C	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001575\|splice_donor_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001575\|splice_donor_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88299641	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Pontocerebellar_hypoplasia_type_6\|Inborn_genetic_diseases\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88299642	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88299647	G	A	single_nucleotide_variant	Uncertain_significance	Pontocerebellar_hypoplasia_type_6	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88299648	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88299650	A	G	single_nucleotide_variant	Uncertain_significance	Pontocerebellar_hypoplasia_type_6	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88299652	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88299655	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88299657	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88299661	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88299663	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88299667	G	A	single_nucleotide_variant	Likely_benign	not_specified\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88299667	G	C	single_nucleotide_variant	Uncertain_significance	Pontocerebellar_hypoplasia_type_6	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88299667	G	T	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88299669	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88299670	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88299670	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88299670	C	T	single_nucleotide_variant	Likely_benign	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88299671	G	A	single_nucleotide_variant	Uncertain_significance	Pontocerebellar_hypoplasia_type_6	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88299673	C	T	single_nucleotide_variant	Pathogenic	Pontoneocerebellar_hypoplasia\|not_provided	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88299674	A	C	single_nucleotide_variant	Pathogenic	not_provided	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88299675	T	A	single_nucleotide_variant	Pathogenic	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88299675	T	C	single_nucleotide_variant	Pathogenic	Pontocerebellar_hypoplasia_type_6\|Inborn_genetic_diseases\|not_provided	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88299676	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88299677	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Pontocerebellar_hypoplasia_type_6\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88299683	T	G	single_nucleotide_variant	Benign/Likely_benign	Pontocerebellar_hypoplasia_type_6\|not_specified	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88299687	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88299688	G	A	single_nucleotide_variant	Benign/Likely_benign	Pontocerebellar_hypoplasia_type_6\|not_specified	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RARS2	chr6	88299709	A	C	single_nucleotide_variant	Benign	not_specified	SO:0002153\|genic_upstream_transcript_variant	SO:0002153\|genic_upstream_transcript_variant
RARS2	chr6	88299805	T	C	single_nucleotide_variant	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
RARS2	BLCA	chr6	88299660	88299660	G	A	Missense_Mutation	p.R6C	14
RARS2	BLCA	chr6	88299660	88299660	G	A	Missense_Mutation		11
RARS2	BLCA	chr6	88224164	88224164	T	C	Silent		6
RARS2	COAD	chr6	88229955	88229955	T	-	Frame_Shift_Del	p.K352fs	5
RARS2	LUAD	chr6	88228554	88228554	T	A	Silent	p.A431A	5
RARS2	CESC	chr6	88265183	88265183	C	G	Missense_Mutation		4
RARS2	KIRP	chr6	88231239	88231239	A	T	Missense_Mutation	p.D326E	4
RARS2	THYM	chr6	88234334	88234334	G	A	Silent	p.G305G	4
RARS2	LUAD	chr6	88240532	88240532	C	A	Missense_Mutation	p.L247F	3
RARS2	ESCA	chr6	88226573	88226573	A	C	Missense_Mutation	p.S513A	3
RARS2	PAAD	chr6	88240541	88240541	A	C	Missense_Mutation	p.F244L	3
RARS2	PAAD	chr6	88272489	88272489	T	C	Silent	p.T76T	3
RARS2	PAAD	chr6	88240658	88240658	A	C	Silent	p.V205V	3
RARS2	ACC	chr6	88229355	88229355	C	G	Missense_Mutation	p.D395H	3
RARS2	BRCA	chr6	88279250	88279250	G	T	Missense_Mutation	p.P32Q	3
RARS2	LIHC	chr6	88227931	88227931	A	G	Silent	p.C489C	2
RARS2	PAAD	chr6	88272489	88272489	T	C	Silent		2
RARS2	LGG	chr6	88229954	88229954	C	A	Missense_Mutation		2
RARS2	UCEC	chr6	88231220	88231220	G	A	Nonsense_Mutation	p.R333*	2
RARS2	LIHC	chr6	88279277	88279277	T	-	Frame_Shift_Del	p.N23fs	2
RARS2	HNSC	chr6	88229969	88229969	A	T	Missense_Mutation	p.D347E	2
RARS2	CESC	chr6	88265133	88265133	C	T	Missense_Mutation		2
RARS2	UCEC	chr6	88234361	88234361	C	T	Silent	p.T296	2
RARS2	UCEC	chr6	88239365	88239365	C	T	Missense_Mutation	p.R258H	2
RARS2	CESC	chr6	88265199	88265199	C	G	Missense_Mutation	p.D108H	2
RARS2	SARC	chr6	88228563	88228563	C	A	Silent		2
RARS2	UCEC	chr6	88240649	88240649	T	G	Missense_Mutation	p.Q208H	2
RARS2	ESCA	chr6	88226573	88226573	A	C	Missense_Mutation		2
RARS2	LIHC	chr6	88227933	88227933	A	-	Frame_Shift_Del	p.C489fs	2
RARS2	STAD	chr6	88231202	88231202	A	C	Missense_Mutation	p.F339V	2
RARS2	THYM	chr6	88234334	88234334	G	A	Silent		2
RARS2	LIHC	chr6	88251642	88251642	G	A	Silent		2
RARS2	STAD	chr6	88228428	88228428	G	A	Silent	p.Y445Y	2
RARS2	PAAD	chr6	88229394	88229394	C	A	Nonsense_Mutation	p.G382*	2
RARS2	UCEC	chr6	88251649	88251649	T	C	Missense_Mutation	p.Q200R	2
RARS2	STAD	chr6	88231241	88231241	C	A	Missense_Mutation	p.D326Y	2
RARS2	LGG	chr6	88229954	88229954	C	A	Missense_Mutation	p.K352N	2
RARS2	UCEC	chr6	88224733	88224733	A	C	Missense_Mutation	p.L531R	2
RARS2	UCEC	chr6	88255353	88255353	G	A	Silent	p.A200V	2
RARS2	UCEC	chr6	88226547	88226547	G	A	Silent	p.I521	2
RARS2	UCEC	chr6	88273851	88273851	C	A	Missense_Mutation	p.E70D	2
RARS2	SKCM	chr6	88227908	88227908	G	A	Missense_Mutation	p.S497L	2
RARS2	STAD	chr6	88224725	88224725	C	T	Missense_Mutation	p.V534M	2
RARS2	UCEC	chr6	88226570	88226570	G	C	Missense_Mutation	p.Q514E	2
RARS2	PAAD	chr6	88240541	88240541	A	C	Missense_Mutation		2
RARS2	UCEC	chr6	88226595	88226595	G	A	Silent	p.F505	2
RARS2	LIHC	chr6	88227931	88227931	A	G	Silent		2
RARS2	HNSC	chr6	88251661	88251661	G	C	Missense_Mutation	p.S196C	2
RARS2	PAAD	chr6	88240658	88240658	A	C	Silent		2
RARS2	CESC	chr6	88265199	88265199	C	G	Missense_Mutation		2
RARS2	LGG	chr6	88239302	88239302	A	C	Missense_Mutation		2
RARS2	UCEC	chr6	88228411	88228411	C	T	Missense_Mutation	p.R451H	2
RARS2	DLBC	chr6	88229953	88229953	G	A	Missense_Mutation	p.H353Y	1
RARS2	LUAD	chr6	88224178	88224178	C	A	Missense_Mutation	p.A564S	1
RARS2	SKCM	chr6	88255417	88255417	C	A	Splice_Site	p.G151_splice	1
RARS2	BLCA	chr6	88258313	88258313	G	A	Silent		1
RARS2	HNSC	chr6	88229385	88229385	T	A	Missense_Mutation	p.T385S	1
RARS2	TGCT	chr6	88251684	88251684	A	-	Frame_Shift_Del	p.F188fs	1
RARS2	READ	chr6	88258320	88258320	G	T	Missense_Mutation	p.S147Y	1
RARS2	DLBC	chr6	88279282	88279282	T	C	Silent	p.P21P	1
RARS2	SKCM	chr6	88224689	88224689	G	A	Missense_Mutation	p.P546S	1
RARS2	PAAD	chr6	88229394	88229394	C	A	Nonsense_Mutation	p.G382X	1
RARS2	THYM	chr6	88265211	88265211	G	T	Missense_Mutation		1
RARS2	LGG	chr6	88229379	88229379	T	C	Missense_Mutation		1
RARS2	SARC	chr6	88224195	88224195	G	T	Missense_Mutation		1
RARS2	LIHC	chr6	88229963	88229963	T	C	Silent	p.G349G	1
RARS2	LUAD	chr6	88229394	88229394	C	T	Missense_Mutation	p.G382R	1
RARS2	SKCM	chr6	88265152	88265152	G	A	Silent	p.P123P	1
RARS2	BLCA	chr6	88299652	88299661	AGCGCGGCGA	-	Frame_Shift_Del		1
RARS2	CESC	chr6	88273904	88273904	C	A	Missense_Mutation		1
RARS2	LGG	chr6	88251665	88251665	G	A	Nonsense_Mutation		1
RARS2	SARC	chr6	88224136	88224136	T	A	Missense_Mutation		1
RARS2	ESCA	chr6	88224740	88224740	T	C	Splice_Site		1
RARS2	LIHC	chr6	88229903	88229903	T	C	Silent	p.A369A	1
RARS2	LUAD	chr6	88229941	88229941	C	G	Missense_Mutation	p.V357L	1
RARS2	SKCM	chr6	88229410	88229410	G	C	Silent	p.P376P	1
RARS2	BLCA	chr6	88265146	88265146	C	A	Missense_Mutation		1
RARS2	KIRP	chr6	88229389	88229389	C	T	Missense_Mutation	p.M383I	1
RARS2	THYM	chr6	88265211	88265211	G	T	Missense_Mutation	p.Q104K	1
RARS2	LGG	chr6	88231214	88231214	C	A	Missense_Mutation		1
RARS2	LUSC	chr6	88240595	88240595	G	C	Missense_Mutation	p.F226L	1
RARS2	KIRP	chr6	88231239	88231239	A	T	Missense_Mutation		1
RARS2	CESC	chr6	88265133	88265133	C	T	Missense_Mutation	p.E130K	1
RARS2	SARC	chr6	88224195	88224195	G	T	Missense_Mutation	p.A558D	1
RARS2	ESCA	chr6	88273871	88273871	G	T	Missense_Mutation	p.Q64K	1
RARS2	LIHC	chr6	88240610	88240610	T	-	Frame_Shift_Del	p.K221fs	1
RARS2	LUSC	chr6	88255364	88255364	T	A	Missense_Mutation	p.N169Y	1
RARS2	BLCA	chr6	88258313	88258313	G	A	Silent	p.I149I	1
RARS2	KIRP	chr6	88251703	88251703	C	A	Missense_Mutation		1
RARS2	UCEC	chr6	88265181	88265181	A	T	Missense_Mutation	p.L114I	1
RARS2	CESC	chr6	88265183	88265183	C	G	Missense_Mutation	p.G113A	1
RARS2	LIHC	chr6	88258338	88258338	T	C	Missense_Mutation		1
RARS2	SARC	chr6	88228563	88228563	C	A	Silent	p.G428G	1
RARS2	OV	chr6	88291076	88291076	C	T	Missense_Mutation		1
RARS2	ESCA	chr6	88224740	88224740	T	C	Splice_Site	.	1
RARS2	BLCA	chr6	88265146	88265146	C	A	Missense_Mutation	p.K125N	1
RARS2	PAAD	chr6	88229394	88229394	C	A	Nonsense_Mutation		1
RARS2	CESC	chr6	88265183	88265183	C	T	Missense_Mutation	p.G113E	1
RARS2	LIHC	chr6	88234305	88234305	C	A	Missense_Mutation		1
RARS2	LIHC	chr6	88229348	88229348	A	-	Frame_Shift_Del	p.L397fs	1
RARS2	SARC	chr6	88228563	88228563	C	A	Silent	p.G428	1
RARS2	OV	chr6	88258335	88258335	A	C	Missense_Mutation	p.V142G	1
RARS2	STAD	chr6	88234285	88234286	AG	-	Frame_Shift_Del	p.322_322del	1
RARS2	HNSC	chr6	88251661	88251661	G	C	Missense_Mutation		1
RARS2	BLCA	chr6	88299652	88299661	AGCGCGGCGA	-	Frame_Shift_Del	p.FRRA5fs	1
RARS2	LGG	chr6	88239302	88239302	A	C	Missense_Mutation	p.V279G	1
RARS2	PRAD	chr6	88240652	88240652	T	C	Silent	p.V207V	1
RARS2	LIHC	chr6	88239269	88239269	A	T	Missense_Mutation		1
RARS2	LIHC	chr6	88224164	88224164	T	-	Frame_Shift_Del	p.K568fs	1
RARS2	OV	chr6	88308366	88308366	G	T	Missense_Mutation	p.H201N	1
RARS2	HNSC	chr6	88229969	88229969	A	T	Missense_Mutation		1
RARS2	LGG	chr6	88229379	88229379	T	C	Missense_Mutation	p.R387G	1
RARS2	PRAD	chr6	88240517	88240517	G	A	Silent	p.Y252Y	1
RARS2	COAD	chr6	88234361	88234361	C	G	Silent	p.T296T	1
RARS2	LIHC	chr6	88258343	88258343	T	-	Frame_Shift_Del		1
RARS2	LIHC	chr6	88224699	88224699	T	-	Frame_Shift_Del	p.K542fs	1
RARS2	SKCM	chr6	88240513	88240513	G	A	Missense_Mutation	p.R254W	1
RARS2	STAD	chr6	88239291	88239291	G	A	Silent	p.L283L	1
RARS2	ACC	chr6	88279286	88279286	G	A	Missense_Mutation	p.P20L	1
RARS2	HNSC	chr6	88229385	88229385	T	A	Missense_Mutation		1
RARS2	CESC	chr6	88239266	88239266	T	C	Missense_Mutation		1
RARS2	LGG	chr6	88251665	88251665	G	A	Nonsense_Mutation	p.Q195*	1
RARS2	PRAD	chr6	88240657	88240657	A	-	Frame_Shift_Del	p.Y206fs	1
RARS2	COAD	chr6	88273918	88273918	G	T	Missense_Mutation	p.S48Y	1
RARS2	SKCM	chr6	88265139	88265139	C	T	Missense_Mutation	p.V128M	1
RARS2	STAD	chr6	88234285	88234286	AG	-	Frame_Shift_Del	p.Y322fs	1
RARS2	READ	chr6	88239330	88239330	A	T	Missense_Mutation	p.S270T	1

Copy number variation (CNV) of RARS2
* Click on the image to open the original image in a new window.

Fusion gene breakpoints (product of the structural variants (SVs)) across RARS2
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Fusion genes with this translation factor from FusionGDB2.0.

FusionGDB2 ID	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
86730	N/A	DA751840	C7orf31	chr7	25219590	-	RARS2	chr6	88279310	-
86730	N/A	BE765789	MAP1B	chr5	71502569	+	RARS2	chr6	88252048	-
100457	N/A	BM193754	RARS2	chr6	88252359	-	C6orf62	chr6	24710113	+
94661	N/A	BI833146	RARS2	chr6	88265125	-	HECA	chr6	139495519	+
72364	LIHC	TCGA-DD-A11D-01A	RARS2	chr6	88299640	-	IP6K3	chr6	33703432	-
72364	LIHC	TCGA-DD-A11D-01A	RARS2	chr6	88299640	-	IP6K3	chr6	33707038	-
90509	N/A	FN154290	RARS2	chr6	88227888	-	MYO9A	chr15	72389386	-
86730	N/A	AA532887	RARS2	chr6	88224131	-	RARS2	chr6	88224110	+
92069	BRCA	TCGA-AR-A24Z-01A	RARS2	chr6	88299640	-	SMAP1	chr6	71508360	+
86734	N/A	EC501870	SSBP3	chr1	54692272	+	RARS2	chr6	88295607	+

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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
ACC	RARS2	0.0492557254143462	1

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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
TGCT	RARS2	0.011696300667444	0.37
LIHC	RARS2	0.0122524699393805	0.38
LGG	RARS2	0.0227037197268257	0.66
PRAD	RARS2	0.0181821021117858	0.55
OV	RARS2	0.00527147521495655	0.17

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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
C1969084	Pontocerebellar Hypoplasia Type 6	4	CTD_human;GENOMICS_ENGLAND;ORPHANET
C0014544	Epilepsy	1	GENOMICS_ENGLAND
C0266468	Congenital pontocerebellar hypoplasia	1	GENOMICS_ENGLAND
C1843504	Pontocerebellar Hypoplasia Type 1	1	ORPHANET