### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = HARS)
# charset = UTF-8

## Genes ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{name}}"	"{{chromosome}}"	"{{chrom_band}}"	"{{imprinting}}"	"{{refseq_genomic}}"	"{{refseq_UD}}"	"{{reference}}"	"{{url_homepage}}"	"{{url_external}}"	"{{allow_download}}"	"{{id_hgnc}}"	"{{id_entrez}}"	"{{id_omim}}"	"{{show_hgmd}}"	"{{show_genecards}}"	"{{show_genetests}}"	"{{show_orphanet}}"	"{{note_index}}"	"{{note_listing}}"	"{{refseq}}"	"{{refseq_url}}"	"{{disclaimer}}"	"{{disclaimer_text}}"	"{{header}}"	"{{header_align}}"	"{{footer}}"	"{{footer_align}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{updated_by}}"	"{{updated_date}}"
"HARS"	"histidyl-tRNA synthetase"	"5"	"q31.3"	"unknown"	"LRG_1374"	"UD_132610871047"	""	"http://www.LOVD.nl/HARS1"	""	"1"	"4816"	"3035"	"142810"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>\r\n<font color=\"#FF0000\">NOTE: gene name changed from HARS to HARS1</font>\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	"aliases include HRS, USH3B"	"g"	"http://databases.lovd.nl/shared/refseq/HARS_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>\r\n<font color=\"#FF0000\">NOTE: gene name changed from HARS to HARS1</font>"	"-1"	""	"-1"	"00006"	"2012-06-29 00:00:00"	"00006"	"2021-12-13 13:58:44"	"00006"	"2026-03-06 17:26:39"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000272"	"HARS"	"histidyl-tRNA synthetase"	"001"	"NM_002109.3"	""	"NP_002100.2"	""	""	""	"-82"	"1882"	"1530"	"140070971"	"140053490"	"00006"	"2012-08-28 17:09:51"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 7
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00011"	"USH3B"	"Usher syndrome, type 3B (USH-3B)"	"AR"	"614504"	""	""	""	"00006"	"2012-06-29 17:09:32"	"00006"	"2021-12-10 21:51:32"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"04254"	"CLP"	"cleft lip, cleft palate (CLP)"	""	""	""	""	""	"00006"	"2015-05-08 09:59:28"	"00006"	"2015-05-08 10:00:15"
"05384"	"neuropathy"	"neuropathy"	""	""	""	""	""	"00006"	"2018-01-27 20:34:06"	""	""
"05459"	"USH3"	"Usher syndrome, type III (USH-3)"	""	""	""	""	""	"00006"	"2018-07-12 10:56:37"	"00006"	"2021-12-11 13:56:28"
"05618"	"NMD"	"neuromuscular disorder (NMD)"	""	""	""	""	""	"00006"	"2019-07-02 19:46:12"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"HARS"	"00011"
"HARS"	"05459"


## Individuals ## Do not remove or alter this header ##
## Count = 18
"{{id}}"	"{{fatherid}}"	"{{motherid}}"	"{{panelid}}"	"{{panel_size}}"	"{{license}}"	"{{owned_by}}"	"{{Individual/Reference}}"	"{{Individual/Remarks}}"	"{{Individual/Gender}}"	"{{Individual/Consanguinity}}"	"{{Individual/Origin/Geographic}}"	"{{Individual/Age_of_death}}"	"{{Individual/VIP}}"	"{{Individual/Data_av}}"	"{{Individual/Treatment}}"	"{{Individual/Origin/Population}}"	"{{Individual/Individual_ID}}"
"00000206"	""	""	""	"363"	""	"00031"	""	""	"?"	"?"	""	""	""	""	""	""	""
"00050575"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00208619"	""	""	""	"1"	""	"01164"	""	""	"F"	""	"Germany"	""	"0"	""	""	""	""
"00231412"	""	""	""	"6"	""	"03278"	"{PMID:Cox 2019:31215115}"	"4-generation family, 6 affected (3F, 3M)"	"F;M"	""	"United States"	""	"0"	""	""	""	"Fam4527"
"00289423"	""	""	""	"1"	""	"01164"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00293763"	""	""	""	"3"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00293764"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00293765"	""	""	""	"8"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00293766"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00358976"	""	""	""	"1"	""	"00000"	"{PMID:Tiwari 2016:27353947}"	"see paper"	"M"	""	"Switzerland"	""	"0"	""	""	""	"Case27419"
"00372725"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP308"
"00408986"	""	""	""	"1"	""	"00000"	"{PMID:Puffenberger 2012:22279524}"	"no patient number in publication, consecutive numbers given"	"?"	""	""	""	"0"	""	""	"Old Order Amish and Mennonite"	"15"
"00408987"	""	""	""	"1"	""	"00000"	"{PMID:Puffenberger 2012:22279524}"	"no patient number in publication, consecutive numbers given"	"?"	""	""	""	"0"	""	""	"Old Order Amish and Mennonite"	"16"
"00472671"	""	""	""	"1"	""	"00006"	"{PMID:Estevez-Arias 2025:39333429}"	"patient"	""	""	""	""	"0"	""	""	""	"Pat33"
"00472985"	""	""	""	"1"	""	"00006"	"{PMID:Molaei 2025:41315541}"	"analysis 2009 neuromuscular disorder individuals; patient, family history"	"M"	"yes"	"Iran"	""	"0"	""	""	""	"Fam9803048Pat82"
"00473112"	""	""	""	"1"	""	"00006"	"{PMID:Molaei 2025:41315541}"	"analysis 2009 neuromuscular disorder individuals; patient, no family history"	"M"	"no"	"Iran"	""	"0"	""	""	""	"Fam18362Pat236"
"00473195"	""	""	""	"1"	""	"00006"	"{PMID:Molaei 2025:41315541}"	"analysis 2009 neuromuscular disorder individuals; patient, family history"	"M"	"no"	"Iran"	""	"0"	""	""	""	"Fam107692Pat370"
"00473932"	""	""	""	"1"	""	"00006"	"{PMID:Molaei 2025:41315541}"	"analysis 2009 neuromuscular disorder individuals; patient, no family history"	"M"	"no"	"Iran"	""	"0"	""	""	""	"Fam9903124Pat1455"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 16
"{{individualid}}"	"{{diseaseid}}"
"00050575"	"00198"
"00231412"	"04254"
"00289423"	"00198"
"00293763"	"00198"
"00293764"	"00198"
"00293765"	"00198"
"00293766"	"00198"
"00358976"	"04214"
"00372725"	"04214"
"00408986"	"00011"
"00408987"	"00011"
"00472671"	"05618"
"00472985"	"05384"
"00473112"	"05384"
"00473195"	"05384"
"00473932"	"05384"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00011, 00198, 04214, 04254, 05384, 05459, 05618
## Count = 13
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000037187"	"00198"	"00050575"	"00006"	"Isolated (sporadic)"	""	"intellectual disability, seizures"	""	""	""	""	""	""	""	""	""	""	""
"0000157243"	"00198"	"00208619"	"01164"	"Unknown"	""	"HP:0003482 (EMG: axonal abnormality)"	""	""	""	""	""	""	""	""	""	""	""
"0000173804"	"04254"	"00231412"	"03278"	"Familial, autosomal dominant"	""	"vertebral hyper segmentation (HP:0003422), rib hyper segmentation (HP:0006655)"	""	""	""	""	""	""	""	""	""	""	""
"0000223035"	"00198"	"00289423"	"01164"	"Unknown"	""	"EMG: axonal abnormality (HP:0003482)"	""	""	""	""	""	""	""	""	""	""	""
"0000254274"	"04214"	"00358976"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Usher syndrome"	""
"0000268004"	"04214"	"00372725"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000301104"	"00011"	"00408986"	"00000"	"Familial, autosomal recessive"	""	"retinitis pigmentosa; progressive sensorineural hearing loss; episodic psychosis"	""	""	""	""	""	""	""	""	"Usher syndrome, type 3B (USH-3B)"	""	""
"0000301105"	"00011"	"00408987"	"00000"	"Familial, autosomal recessive"	""	"retinitis pigmentosa; progressive sensorineural hearing loss; episodic psychosis"	""	""	""	""	""	""	""	""	"Usher syndrome, type 3B (USH-3B)"	""	""
"0000357467"	"05618"	"00472671"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"neuromuscular disorder"	""
"0000357780"	"05384"	"00472985"	"00006"	"Unknown"	"48y"	"Lower & upper limbs neuropathy; Difficulty walking; Abnormality of the cardiovascular system; EDX: severe chronic demyelinating sensory motor polyneuropathy with secondary axonal loss."	""	""	""	""	""	""	""	""	""	"hereditary neuropathy"	""
"0000357907"	"05384"	"00473112"	"00006"	"Unknown"	"15y"	"onset 13y with abnormality of gait & lower muscle weakness & pain due to neuropathy; Hand tremor; Mild pes cavus; Difficulty heel & tip-toe walking; EMG-NCV: chronic axonal type sensorimotor polyneuropathy; High CPK."	""	""	""	""	""	""	""	""	""	"hereditary neuropathy"	""
"0000357990"	"05384"	"00473195"	"00006"	"Unknown"	"23y"	"onset 12y, Muscle cramp, lower limb; Muscle pain; Increased muscle force; EMG-NCV: chronic motor neuropathy."	""	""	""	""	""	""	""	""	""	"hereditary neuropathy"	""
"0000358727"	"05384"	"00473932"	"00006"	"Familial, autosomal dominant"	"27y"	"Paresthesia; Intermittent facial weakness; Muscle atrophy, Distal>proximal; Intermittent muscle weakness; Feel fatigue while walking; Difficulty walking; Drop foot; Mild thenar atrophy; Abnormal gait; Pes cavus; EMG-NCV: chronic axonal motor neuropathy; CPK is slightly elevated."	""	""	""	""	""	""	""	""	""	"hereditary neuropathy"	""


## Screenings ## Do not remove or alter this header ##
## Count = 18
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000207"	"00000206"	"1"	"00031"	"00031"	"2012-09-01 22:59:35"	""	""	"SEQ"	"DNA"	""	""
"0000050520"	"00050575"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000209668"	"00208619"	"1"	"01164"	"01164"	"2018-12-12 12:06:07"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232511"	"00231412"	"1"	"03278"	"03278"	"2019-05-02 06:00:24"	""	""	"SEQ-NG"	"DNA"	""	""
"0000290593"	"00289423"	"1"	"01164"	"01164"	"2020-03-09 11:33:37"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000294931"	"00293763"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000294932"	"00293764"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000294933"	"00293765"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000294934"	"00293766"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000360213"	"00358976"	"1"	"00000"	"00006"	"2021-03-18 12:15:00"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000373957"	"00372725"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000410251"	"00408986"	"1"	"00000"	"03840"	"2022-04-29 17:32:37"	""	""	"arraySNP;SEQ-NG;SEQ"	"DNA"	"blood"	"targeted gene analysis or a next-generation sequencing-based gene panel"
"0000410252"	"00408987"	"1"	"00000"	"03840"	"2022-04-29 17:32:37"	""	""	"arraySNP;SEQ-NG;SEQ"	"DNA"	"blood"	"targeted gene analysis or a next-generation sequencing-based gene panel"
"0000474339"	"00472671"	"1"	"00006"	"00006"	"2026-02-25 09:06:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WGS"
"0000474654"	"00472985"	"1"	"00006"	"00006"	"2026-03-06 17:24:40"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000474781"	"00473112"	"1"	"00006"	"00006"	"2026-03-06 17:24:40"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000474864"	"00473195"	"1"	"00006"	"00006"	"2026-03-06 17:24:40"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000475601"	"00473932"	"1"	"00006"	"00006"	"2026-03-06 17:24:40"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}"	"{{geneid}}"
"0000000207"	"HARS"
"0000232511"	"GDF11"
"0000410251"	"HARS"
"0000410252"	"HARS"


## Variants_On_Genome ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Count = 94
"{{id}}"	"{{allele}}"	"{{effectid}}"	"{{chromosome}}"	"{{position_g_start}}"	"{{position_g_end}}"	"{{type}}"	"{{average_frequency}}"	"{{owned_by}}"	"{{VariantOnGenome/DBID}}"	"{{VariantOnGenome/DNA}}"	"{{VariantOnGenome/Frequency}}"	"{{VariantOnGenome/Reference}}"	"{{VariantOnGenome/Restriction_site}}"	"{{VariantOnGenome/Published_as}}"	"{{VariantOnGenome/Remarks}}"	"{{VariantOnGenome/Genetic_origin}}"	"{{VariantOnGenome/Segregation}}"	"{{VariantOnGenome/dbSNP}}"	"{{VariantOnGenome/VIP}}"	"{{VariantOnGenome/Methylation}}"	"{{VariantOnGenome/ISCN}}"	"{{VariantOnGenome/DNA/hg38}}"	"{{VariantOnGenome/ClinVar}}"	"{{VariantOnGenome/ClinicalClassification}}"	"{{VariantOnGenome/ClinicalClassification/Method}}"
"0000001595"	"0"	"55"	"5"	"140070876"	"140070876"	"subst"	"0.00540017"	"00031"	"HARS_000006"	"g.140070876G>T"	"2/726"	""	""	""	""	"Unknown"	"?"	""	""	""	""	"g.140691291G>T"	""	"VUS"	""
"0000001596"	"0"	"55"	"5"	"140058699"	"140058699"	"subst"	"8.12499E-5"	"00031"	"HARS_000005"	"g.140058699C>T"	"1/726"	""	""	""	""	"Unknown"	"?"	""	""	""	""	"g.140679114C>T"	""	"VUS"	""
"0000001597"	"0"	"55"	"5"	"140057518"	"140057518"	"subst"	"0"	"00031"	"HARS_000004"	"g.140057518C>T"	"2/726"	""	""	""	"Variant Error [EREF/EREFSEQ]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message."	"Unknown"	"?"	""	""	""	""	""	""	"VUS"	""
"0000001598"	"0"	"55"	"5"	"140057256"	"140057256"	"subst"	"1.21821E-5"	"00031"	"HARS_000003"	"g.140057256A>G"	"1/726"	""	""	""	""	"Unknown"	"?"	""	""	""	""	"g.140677671A>G"	""	"VUS"	""
"0000001599"	"0"	"55"	"5"	"140056306"	"140056306"	"subst"	"0.00119388"	"00031"	"HARS_000002"	"g.140056306T>C"	"1/726"	""	""	""	""	"Unknown"	"?"	""	""	""	""	"g.140676721T>C"	""	"VUS"	""
"0000001600"	"0"	"55"	"5"	"140053859"	"140053859"	"subst"	"4.06055E-6"	"00031"	"HARS_000001"	"g.140053859G>A"	"1/726"	""	""	""	""	"Unknown"	"?"	""	""	""	""	"g.140674274G>A"	""	"VUS"	""
"0000079500"	"0"	"90"	"5"	"123828524"	"145717285"	"dup"	"0"	"00006"	"SIL1_000024"	"g.123828524_145717285dup"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"mosaicism, copy number 3 in 0.38  cells"	"Somatic"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000246384"	"0"	"30"	"5"	"140057256"	"140057256"	"subst"	"1.21821E-5"	"02330"	"HARS_000003"	"g.140057256A>G"	""	""	""	"HARS1(NM_002109.6):c.713T>C (p.V238A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.140677671A>G"	""	"likely benign"	""
"0000255368"	"0"	"70"	"5"	"140062787"	"140062787"	"del"	"4.06121E-6"	"01943"	"HARS_000014"	"g.140062787del"	""	""	""	"HARS(NM_002109.6):c.198delT (p.R68Gfs*12)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.140683202del"	""	"likely pathogenic"	""
"0000277542"	"0"	"50"	"5"	"140056377"	"140056377"	"subst"	"0"	"02330"	"HARS_000011"	"g.140056377C>T"	""	""	""	"HARS1(NM_002109.6):c.1056G>A (p.L352=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.140676792C>T"	""	"VUS"	""
"0000277543"	"0"	"50"	"5"	"140054604"	"140054604"	"subst"	"0"	"02330"	"HARS_000009"	"g.140054604T>C"	""	""	""	"HARS1(NM_002109.6):c.1309A>G (p.K437E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.140675019T>C"	""	"VUS"	""
"0000277544"	"0"	"10"	"5"	"140054257"	"140054257"	"subst"	"0.237643"	"02330"	"HARS_000007"	"g.140054257C>T"	""	""	""	"HARS1(NM_002109.6):c.1458+7G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.140674672C>T"	""	"benign"	""
"0000277545"	"0"	"10"	"5"	"140070876"	"140070876"	"subst"	"0.00540017"	"02330"	"HARS_000006"	"g.140070876G>T"	""	""	""	"HARS(NM_001258040.1):c.14C>A (p.(Ala5Glu)), HARS(NM_002109.6):c.14C>A (p.A5E), HARS1(NM_002109.6):c.14C>A (p.A5E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.140691291G>T"	""	"benign"	""
"0000277546"	"0"	"10"	"5"	"140062819"	"140062819"	"subst"	"0.000980312"	"02330"	"HARS_000015"	"g.140062819C>G"	""	""	""	"HARS1(NM_002109.6):c.181-15G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.140683234C>G"	""	"benign"	""
"0000277547"	"0"	"10"	"5"	"140062751"	"140062751"	"subst"	"0.00145783"	"02330"	"HARS_000016"	"g.140062751G>A"	""	""	""	"HARS1(NM_002109.6):c.234C>T (p.D78=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.140683166G>A"	""	"benign"	""
"0000277548"	"0"	"10"	"5"	"140057535"	"140057535"	"subst"	"0.0799795"	"02330"	"HARS_000012"	"g.140057535G>A"	""	""	""	"HARS1(NM_002109.6):c.588C>T (p.C196=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.140677950G>A"	""	"benign"	""
"0000281227"	"0"	"10"	"5"	"140054257"	"140054257"	"subst"	"0.237643"	"02325"	"HARS_000007"	"g.140054257C>T"	""	""	""	"HARS1(NM_002109.6):c.1458+7G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.140674672C>T"	""	"benign"	""
"0000281228"	"0"	"10"	"5"	"140073883"	"140073883"	"subst"	"0.237671"	"02325"	"HARS2_000002"	"g.140073883G>A"	""	""	""	"HARS2(NM_012208.4):c.399+18G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.140694298G>A"	""	"benign"	""
"0000288932"	"0"	"90"	"5"	"140056238"	"140056238"	"subst"	"0"	"01943"	"HARS_000010"	"g.140056238C>T"	""	""	""	"HARS(NM_002109.6):c.1194+1G>A, HARS1(NM_002109.6):c.1194+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.140676653C>T"	""	"pathogenic"	""
"0000288933"	"0"	"50"	"5"	"140054277"	"140054277"	"subst"	"0.000629672"	"01943"	"HARS_000008"	"g.140054277G>A"	""	""	""	"HARS(NM_002109.6):c.1445C>T (p.T482M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.140674692G>A"	""	"VUS"	""
"0000288934"	"0"	"10"	"5"	"140070876"	"140070876"	"subst"	"0.00540017"	"01943"	"HARS_000006"	"g.140070876G>T"	""	""	""	"HARS(NM_001258040.1):c.14C>A (p.(Ala5Glu)), HARS(NM_002109.6):c.14C>A (p.A5E), HARS1(NM_002109.6):c.14C>A (p.A5E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.140691291G>T"	""	"benign"	""
"0000288935"	"0"	"50"	"5"	"140070441"	"140070441"	"subst"	"0"	"01943"	"HARS_000019"	"g.140070441T>G"	""	""	""	"HARS(NM_002109.6):c.179A>C (p.K60T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.140690856T>G"	""	"VUS"	""
"0000288937"	"0"	"70"	"5"	"140062789"	"140062791"	"del"	"4.06134E-6"	"01943"	"HARS_000017"	"g.140062789_140062791del"	""	""	""	"HARS(NM_002109.6):c.194_196delATA (p.Y65_S66delinsC)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.140683204_140683206del"	""	"likely pathogenic"	""
"0000288938"	"0"	"50"	"5"	"140059387"	"140059387"	"subst"	"0.000253349"	"01943"	"HARS_000013"	"g.140059387G>A"	""	""	""	"HARS(NM_002109.6):c.382C>T (p.R128C), HARS1(NM_002109.6):c.382C>T (p.R128C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.140679802G>A"	""	"VUS"	""
"0000288939"	"0"	"50"	"5"	"140070850"	"140070850"	"subst"	"0.000975715"	"01943"	"HARS_000020"	"g.140070850G>T"	""	""	""	"HARS(NM_002109.6):c.40C>A (p.Q14K), HARS1(NM_002109.6):c.40C>A (p.Q14K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.140691265G>T"	""	"VUS"	""
"0000288942"	"0"	"30"	"5"	"140073790"	"140073790"	"subst"	"0.00222114"	"01943"	"HARS2_000004"	"g.140073790T>C"	""	""	""	"HARS2(NM_012208.3):c.324T>C (p.Y108=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.140694205T>C"	""	"likely benign"	""
"0000439882"	"0"	"70"	"5"	"140059374"	"140059374"	"subst"	"0"	"01164"	"HARS_000021"	"g.140059374G>A"	""	""	""	""	"ACMG grading: PP3,PM2,PS3,PP5; reported in Safka Brozkova  2015. Brain 138: 2161"	"Germline"	""	"rs143473232"	"0"	""	""	"g.140679789G>A"	""	"likely pathogenic"	"ACMG"
"0000480519"	"0"	"70"	"5"	"140057542"	"140057542"	"subst"	"0"	"03278"	"HARS_000022"	"g.140057542A>G"	""	"{PMID:Cox 2019:31215115}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.140677957A>G"	""	"VUS"	""
"0000524442"	"0"	"30"	"5"	"140050894"	"140050894"	"subst"	"0"	"01804"	"DND1_000001"	"g.140050894G>C"	""	""	""	"DND1(NM_194249.2):c.1046C>G (p.(Thr349Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.140671309G>C"	""	"likely benign"	""
"0000524443"	"0"	"30"	"5"	"140050907"	"140050907"	"subst"	"0"	"01804"	"DND1_000002"	"g.140050907C>T"	""	""	""	"DND1(NM_194249.2):c.1033G>A (p.(Ala345Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.140671322C>T"	""	"likely benign"	""
"0000524445"	"0"	"30"	"5"	"140051086"	"140051086"	"subst"	"0"	"01804"	"DND1_000004"	"g.140051086C>T"	""	""	""	"DND1(NM_194249.2):c.854G>A (p.(Trp285Ter))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.140671501C>T"	""	"likely benign"	""
"0000524446"	"0"	"30"	"5"	"140054712"	"140054712"	"subst"	"8.53513E-5"	"01943"	"DND1_000005"	"g.140054712C>T"	""	""	""	"HARS(NM_002109.6):c.1201G>A (p.E401K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.140675127C>T"	""	"likely benign"	""
"0000524447"	"0"	"50"	"5"	"140056277"	"140056277"	"subst"	"0"	"01943"	"DND1_000006"	"g.140056277C>A"	""	""	""	"HARS(NM_002109.6):c.1156G>T (p.V386L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.140676692C>A"	""	"VUS"	""
"0000524448"	"0"	"10"	"5"	"140056306"	"140056306"	"subst"	"0.00119388"	"02330"	"HARS_000002"	"g.140056306T>C"	""	""	""	"HARS1(NM_002109.6):c.1127A>G (p.K376R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.140676721T>C"	""	"benign"	""
"0000524449"	"0"	"10"	"5"	"140056555"	"140056555"	"subst"	"0.0073266"	"02330"	"DND1_000007"	"g.140056555C>T"	""	""	""	"HARS1(NM_002109.6):c.951+19G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.140676970C>T"	""	"benign"	""
"0000524450"	"0"	"10"	"5"	"140056622"	"140056622"	"subst"	"6.50137E-5"	"02330"	"DND1_000008"	"g.140056622G>A"	""	""	""	"HARS1(NM_002109.6):c.903C>T (p.D301=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.140677037G>A"	""	"benign"	""
"0000524451"	"0"	"30"	"5"	"140056691"	"140056691"	"subst"	"0"	"01943"	"DND1_000009"	"g.140056691G>T"	""	""	""	"HARS(NM_002109.6):c.834C>A (p.S278=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.140677106G>T"	""	"likely benign"	""
"0000524454"	"0"	"10"	"5"	"140057509"	"140057509"	"subst"	"0.00288841"	"02330"	"DND1_000012"	"g.140057509C>T"	""	""	""	"HARS(NM_001258041.2):c.554G>A (p.G185D), HARS1(NM_002109.6):c.614G>A (p.G205D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.140677924C>T"	""	"benign"	""
"0000524455"	"0"	"50"	"5"	"140057509"	"140057509"	"subst"	"0.00288841"	"01943"	"DND1_000012"	"g.140057509C>T"	""	""	""	"HARS(NM_001258041.2):c.554G>A (p.G185D), HARS1(NM_002109.6):c.614G>A (p.G205D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.140677924C>T"	""	"VUS"	""
"0000524457"	"0"	"50"	"5"	"140059387"	"140059387"	"subst"	"0.000253349"	"02330"	"HARS_000013"	"g.140059387G>A"	""	""	""	"HARS(NM_002109.6):c.382C>T (p.R128C), HARS1(NM_002109.6):c.382C>T (p.R128C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.140679802G>A"	""	"VUS"	""
"0000524458"	"0"	"50"	"5"	"140059429"	"140059429"	"subst"	"0"	"02330"	"HARS2_000008"	"g.140059429T>C"	""	""	""	"HARS1(NM_002109.6):c.340A>G (p.I114V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.140679844T>C"	""	"VUS"	""
"0000524459"	"0"	"30"	"5"	"140062739"	"140062739"	"subst"	"4.06075E-6"	"02330"	"HARS2_000009"	"g.140062739A>C"	""	""	""	"HARS1(NM_002109.6):c.246T>G (p.R82=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.140683154A>C"	""	"likely benign"	""
"0000524460"	"0"	"70"	"5"	"140062794"	"140062794"	"dup"	"0"	"01943"	"HARS2_000010"	"g.140062794dup"	""	""	""	"HARS(NM_002109.6):c.191dupA (p.D64Efs*3)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.140683209dup"	""	"likely pathogenic"	""
"0000524461"	"0"	"50"	"5"	"140070796"	"140070796"	"subst"	"2.12668E-5"	"01943"	"HARS2_000011"	"g.140070796T>G"	""	""	""	"HARS(NM_002109.6):c.90+4A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.140691211T>G"	""	"VUS"	""
"0000524462"	"0"	"30"	"5"	"140070876"	"140070876"	"subst"	"0.00540017"	"01804"	"HARS_000006"	"g.140070876G>T"	""	""	""	"HARS(NM_001258040.1):c.14C>A (p.(Ala5Glu)), HARS(NM_002109.6):c.14C>A (p.A5E), HARS1(NM_002109.6):c.14C>A (p.A5E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.140691291G>T"	""	"likely benign"	""
"0000524463"	"0"	"10"	"5"	"140070895"	"140070895"	"subst"	"0"	"02330"	"HARS2_000012"	"g.140070895C>A"	""	""	""	"HARS1(NM_002109.6):c.-6G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.140691310C>A"	""	"benign"	""
"0000524464"	"0"	"30"	"5"	"140071240"	"140071240"	"subst"	"0.00290808"	"01943"	"HARS2_000013"	"g.140071240C>G"	""	""	""	"HARS2(NM_012208.3):c.7C>G (p.L3V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.140691655C>G"	""	"likely benign"	""
"0000524466"	"0"	"50"	"5"	"140075106"	"140075106"	"subst"	"2.43633E-5"	"02327"	"ZMAT2_000001"	"g.140075106G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.140695521G>A"	""	"VUS"	""
"0000524467"	"0"	"90"	"5"	"140075182"	"140075182"	"dup"	"0"	"01943"	"ZMAT2_000002"	"g.140075182dup"	""	""	""	"HARS2(NM_012208.3):c.489dupC (p.I164Hfs*7)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.140695597dup"	""	"pathogenic"	""
"0000524468"	"0"	"30"	"5"	"140075361"	"140075361"	"subst"	"3.24868E-5"	"01943"	"ZMAT2_000003"	"g.140075361C>T"	""	""	""	"HARS2(NM_012208.3):c.564C>T (p.P188=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.140695776C>T"	""	"likely benign"	""
"0000609525"	"0"	"50"	"5"	"140057256"	"140057256"	"subst"	"1.21821E-5"	"02327"	"HARS_000003"	"g.140057256A>G"	""	""	""	"HARS1(NM_002109.6):c.713T>C (p.V238A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.140677671A>G"	""	"VUS"	""
"0000609526"	"0"	"70"	"5"	"140058699"	"140058699"	"subst"	"8.12499E-5"	"01943"	"HARS_000005"	"g.140058699C>T"	""	""	""	"HARS(NM_002109.4):c.410G>A (p.(Arg137Gln)), HARS(NM_002109.6):c.410G>A (p.R137Q), HARS1(NM_002109.6):c.410G>A (p.R137Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.140679114C>T"	""	"likely pathogenic"	""
"0000609527"	"0"	"30"	"5"	"140062688"	"140062688"	"subst"	"0"	"01943"	"HARS2_000014"	"g.140062688T>C"	""	""	""	"HARS(NM_001258041.2):c.297A>G (p.L99=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.140683103T>C"	""	"likely benign"	""
"0000609528"	"0"	"50"	"5"	"140073855"	"140073855"	"subst"	"0"	"02327"	"ZMAT2_000007"	"g.140073855A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.140694270A>G"	""	"VUS"	""
"0000609529"	"0"	"30"	"5"	"140075410"	"140075410"	"subst"	"4.06055E-6"	"01943"	"ZMAT2_000008"	"g.140075410T>C"	""	""	""	"HARS2(NM_012208.3):c.613T>C (p.L205=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.140695825T>C"	""	"likely benign"	""
"0000621490"	"0"	"50"	"5"	"140070801"	"140070801"	"subst"	"0"	"02330"	"HARS2_000016"	"g.140070801A>C"	""	""	""	"HARS1(NM_001258041.3):c.89T>G (p.L30R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.140691216A>C"	""	"VUS"	""
"0000621491"	"0"	"50"	"5"	"140073833"	"140073833"	"subst"	"0"	"01943"	"ZMAT2_000006"	"g.140073833G>A"	""	""	""	"HARS2(NM_001363535.1):c.385G>A (p.G129R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.140694248G>A"	""	"VUS"	""
"0000647279"	"0"	"70"	"5"	"140059374"	"140059374"	"subst"	"0"	"01164"	"HARS_000021"	"g.140059374G>A"	""	""	""	""	"ACMG: PS3,PM2,PP3,PP5; Safka Brozkova et al. 2015. Brain 138: 2161"	"Germline"	""	"rs143473232"	"0"	""	""	"g.140679789G>A"	""	"likely pathogenic"	"ACMG"
"0000651620"	"1"	"30"	"5"	"140054277"	"140054277"	"subst"	"0.000629672"	"03575"	"HARS_000008"	"g.140054277G>A"	"3/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"3 heterozygous, no homozygous; {DB:CLININrs147372931}"	"Germline"	""	"rs147372931"	"0"	""	""	"g.140674692G>A"	""	"likely benign"	""
"0000651621"	"1"	"50"	"5"	"140054361"	"140054361"	"subst"	"2.0307E-5"	"03575"	"HARS_000023"	"g.140054361T>G"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs387906639}"	"Germline"	""	"rs387906639"	"0"	""	""	"g.140674776T>G"	""	"VUS"	""
"0000651622"	"1"	"10"	"5"	"140057509"	"140057509"	"subst"	"0.00288841"	"03575"	"DND1_000012"	"g.140057509C>T"	"8/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"8 heterozygous, no homozygous; {DB:CLININrs147288996}"	"Germline"	""	"rs147288996"	"0"	""	""	"g.140677924C>T"	""	"benign"	""
"0000651623"	"1"	"50"	"5"	"140058699"	"140058699"	"subst"	"8.12499E-5"	"03575"	"HARS_000005"	"g.140058699C>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs191391414}"	"Germline"	""	"rs191391414"	"0"	""	""	"g.140679114C>T"	""	"VUS"	""
"0000655303"	"0"	"10"	"5"	"140054652"	"140054652"	"subst"	"0.000808444"	"02330"	"DND1_000013"	"g.140054652G>C"	""	""	""	"HARS1(NM_001258041.3):c.1201C>G (p.L401V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.140675067G>C"	""	"benign"	""
"0000655304"	"0"	"30"	"5"	"140057509"	"140057509"	"subst"	"0.00288841"	"02327"	"DND1_000012"	"g.140057509C>T"	""	""	""	"HARS(NM_001258041.2):c.554G>A (p.G185D), HARS1(NM_002109.6):c.614G>A (p.G205D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.140677924C>T"	""	"likely benign"	""
"0000655305"	"0"	"10"	"5"	"140073883"	"140073883"	"subst"	"0.237671"	"02327"	"HARS2_000002"	"g.140073883G>A"	""	""	""	"HARS2(NM_012208.4):c.399+18G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.140694298G>A"	""	"benign"	""
"0000677413"	"0"	"30"	"5"	"140054276"	"140054276"	"subst"	"2.84366E-5"	"01943"	"DND1_000014"	"g.140054276C>T"	""	""	""	"HARS(NM_001258041.2):c.1386G>A (p.T462=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000677414"	"0"	"50"	"5"	"140056992"	"140056992"	"subst"	"4.06114E-6"	"01943"	"DND1_000015"	"g.140056992T>A"	""	""	""	"HARS(NM_001258041.2):c.683A>T (p.E228V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000677415"	"0"	"50"	"5"	"140058672"	"140058674"	"dup"	"0"	"01943"	"HARS2_000022"	"g.140058672_140058674dup"	""	""	""	"HARS(NM_001258041.2):c.437_439dupACA (p.N146dup)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000689441"	"0"	"50"	"5"	"140056935"	"140056935"	"subst"	"3.2491E-5"	"02330"	"DND1_000016"	"g.140056935A>G"	""	""	""	"HARS1(NM_001258041.3):c.740T>C (p.I247T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000720216"	"0"	"50"	"5"	"140062767"	"140062767"	"subst"	"3.65473E-5"	"02329"	"HARS2_000023"	"g.140062767C>T"	""	""	""	"HARS(NM_001258041.2):c.218G>A (p.R73H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000720217"	"0"	"50"	"5"	"140062782"	"140062782"	"subst"	"6.49767E-5"	"02329"	"HARS2_000015"	"g.140062782C>T"	""	""	""	"HARS(NM_001258041.2):c.203G>A (p.R68Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000759940"	"1"	"90"	"5"	"140058699"	"140058699"	"subst"	"8.12499E-5"	"00000"	"HARS_000005"	"g.140058699C>T"	""	"{PMID:Tiwari 2016:27353947}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.140679114C>T"	""	"pathogenic (recessive)"	""
"0000759961"	"2"	"90"	"5"	"140062723"	"140062723"	"subst"	"8.12163E-6"	"00000"	"HARS_000024"	"g.140062723C>T"	""	"{PMID:Tiwari 2016:27353947}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.140683138C>T"	""	"pathogenic (recessive)"	""
"0000784649"	"0"	"50"	"5"	"140059462"	"140059462"	"subst"	"2.04002E-5"	"00000"	"HARS_000025"	"g.140059462G>C"	"5/314 case chromosomes"	"{PMID:Xu 2015:25999675}"	""	""	"23/1266 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.140679877G>C"	""	"VUS"	""
"0000784650"	"0"	"50"	"5"	"140054277"	"140054277"	"subst"	"0.000629672"	"00000"	"HARS_000008"	"g.140054277G>A"	"1/314 case chromosomes"	"{PMID:Xu 2015:25999675}"	""	""	"0/1266 control chromosomes"	"Germline"	""	"rs147372931"	"0"	""	""	"g.140674692G>A"	""	"VUS"	""
"0000801922"	"0"	"10"	"5"	"140054717"	"140054717"	"subst"	"0.00103274"	"02330"	"HARS_000026"	"g.140054717G>A"	""	""	""	"HARS1(NM_001258041.3):c.1136C>T (p.A379V), HARS1(NM_002109.6):c.1196C>T (p.A399V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000801923"	"0"	"50"	"5"	"140062783"	"140062783"	"subst"	"1.62459E-5"	"01943"	"HARS_000027"	"g.140062783G>A"	""	""	""	"HARS(NM_001258041.2):c.202C>T (p.R68W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000847527"	"3"	"70"	"5"	"140054361"	"140054361"	"subst"	"2.0307E-5"	"00000"	"HARS_000023"	"g.140054361T>G"	"population-specific allele frequency: 1.72% (7/406)"	"{PMID:Puffenberger 2012:22279524}"	""	"HARS c.1361A>C, p.Tyr454Ser"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.140674776T>G"	""	"likely pathogenic"	""
"0000847528"	"3"	"70"	"5"	"140054361"	"140054361"	"subst"	"2.0307E-5"	"00000"	"HARS_000023"	"g.140054361T>G"	"population-specific allele frequency: 1.72% (7/406)"	"{PMID:Puffenberger 2012:22279524}"	""	"HARS c.1361A>C, p.Tyr454Ser"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.140674776T>G"	""	"likely pathogenic"	""
"0000850802"	"0"	"50"	"5"	"140058699"	"140058699"	"subst"	"8.12499E-5"	"02327"	"HARS_000005"	"g.140058699C>T"	""	""	""	"HARS(NM_002109.4):c.410G>A (p.(Arg137Gln)), HARS(NM_002109.6):c.410G>A (p.R137Q), HARS1(NM_002109.6):c.410G>A (p.R137Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000859779"	"0"	"50"	"5"	"140056238"	"140056238"	"subst"	"0"	"02327"	"HARS_000010"	"g.140056238C>T"	""	""	""	"HARS(NM_002109.6):c.1194+1G>A, HARS1(NM_002109.6):c.1194+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000859780"	"0"	"70"	"5"	"140058699"	"140058699"	"subst"	"8.12499E-5"	"02330"	"HARS_000005"	"g.140058699C>T"	""	""	""	"HARS(NM_002109.4):c.410G>A (p.(Arg137Gln)), HARS(NM_002109.6):c.410G>A (p.R137Q), HARS1(NM_002109.6):c.410G>A (p.R137Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000886643"	"0"	"90"	"5"	"140058699"	"140058699"	"subst"	"8.12499E-5"	"02326"	"HARS_000005"	"g.140058699C>T"	""	""	""	"HARS(NM_002109.4):c.410G>A (p.(Arg137Gln)), HARS(NM_002109.6):c.410G>A (p.R137Q), HARS1(NM_002109.6):c.410G>A (p.R137Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000886646"	"0"	"10"	"5"	"140070850"	"140070850"	"subst"	"0.000975715"	"02330"	"HARS_000020"	"g.140070850G>T"	""	""	""	"HARS(NM_002109.6):c.40C>A (p.Q14K), HARS1(NM_002109.6):c.40C>A (p.Q14K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000912246"	"0"	"10"	"5"	"140054717"	"140054717"	"subst"	"0.00103274"	"02326"	"HARS_000026"	"g.140054717G>A"	""	""	""	"HARS1(NM_001258041.3):c.1136C>T (p.A379V), HARS1(NM_002109.6):c.1196C>T (p.A399V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000994698"	"0"	"50"	"5"	"140058699"	"140058699"	"subst"	"8.12499E-5"	"01804"	"HARS_000005"	"g.140058699C>T"	""	""	""	"HARS(NM_002109.4):c.410G>A (p.(Arg137Gln)), HARS(NM_002109.6):c.410G>A (p.R137Q), HARS1(NM_002109.6):c.410G>A (p.R137Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001025046"	"0"	"50"	"5"	"140056238"	"140056238"	"subst"	"0"	"02330"	"HARS_000010"	"g.140056238C>T"	""	""	""	"HARS(NM_002109.6):c.1194+1G>A, HARS1(NM_002109.6):c.1194+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001025047"	"0"	"50"	"5"	"140057256"	"140057256"	"subst"	"1.21821E-5"	"02325"	"HARS_000003"	"g.140057256A>G"	""	""	""	"HARS1(NM_002109.6):c.713T>C (p.V238A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001068635"	"0"	"50"	"5"	"140057575"	"140057575"	"subst"	"0"	"00006"	"HARS_000028"	"g.140057575T>C"	""	"{PMID:Estevez-Arias 2025:39333429}"	""	""	"ACMG PM2, PP3, PM6"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.140677990T>C"	""	"VUS"	""
"0001069052"	"1"	"70"	"5"	"140054329"	"140054329"	"subst"	"1.21851E-5"	"00006"	"HARS_000029"	"g.140054329T>G"	""	"{PMID:Molaei 2025:41315541}"	""	""	"ACMG PS3_sup, PM2, PP2, PP3, PM3_sup"	"Germline"	""	""	"0"	""	""	"g.140674744T>G"	"SCV001755342"	"likely pathogenic"	"ACMG"
"0001069179"	"0"	"50"	"5"	"140056911"	"140057239"	"dup"	"0"	"00006"	"HARS_000030"	"g.(140057006_140057239)_(140056702_140056911)dup"	""	"{PMID:Molaei 2025:41315541}"	""	"dup ex8, Chr5:140056909-140057007dup"	"ACMG 1A, 2I, 2L, 3A"	"Germline"	""	""	"0"	""	""	"g.(140677421_140677654)_(140677117_140677326)dup"	""	"VUS"	"ACMG"
"0001069262"	"0"	"50"	"5"	"140058645"	"140058645"	"subst"	"4.06085E-6"	"00006"	"HARS_000031"	"g.140058645A>C"	""	"{PMID:Molaei 2025:41315541}"	""	""	"ACMG PM2, PP5"	"Germline"	""	""	"0"	""	""	"g.140679060A>C"	"SCV006075141"	"VUS"	"ACMG"
"0001069994"	"0"	"70"	"5"	"140058645"	"140058645"	"subst"	"4.06085E-6"	"00006"	"HARS_000031"	"g.140058645A>C"	""	"{PMID:Molaei 2025:41315541}"	""	""	"ACMG PVS1_str, PM1, PM2, PP3, PP5"	"Germline"	""	""	"0"	""	""	"g.140679060A>C"	"SCV006075141"	"likely pathogenic"	"ACMG"
"0001070136"	"0"	"50"	"5"	"140070796"	"140070796"	"subst"	"2.12668E-5"	"00006"	"HARS2_000011"	"g.140070796T>G"	""	"{PMID:Molaei 2025:41315541}"	""	""	"ACMG PM2"	"Germline"	""	""	"0"	""	""	"g.140691211T>G"	"SCV006074982"	"VUS"	"ACMG"


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes HARS
## Count = 94
"{{id}}"	"{{transcriptid}}"	"{{effectid}}"	"{{position_c_start}}"	"{{position_c_start_intron}}"	"{{position_c_end}}"	"{{position_c_end_intron}}"	"{{VariantOnTranscript/DNA}}"	"{{VariantOnTranscript/RNA}}"	"{{VariantOnTranscript/Protein}}"	"{{VariantOnTranscript/Exon}}"
"0000001595"	"00000272"	"55"	"14"	"0"	"14"	"0"	"c.14C>A"	"r.14c>a"	"p.Ala5Glu"	"1"
"0000001596"	"00000272"	"95"	"410"	"0"	"410"	"0"	"c.410G>A"	"r.410g>a"	"p.Arg137Gln"	"4"
"0000001597"	"00000272"	"55"	"605"	"0"	"605"	"0"	"c.605G>A"	"r.605g>a"	"p.Gly205Asp"	"5"
"0000001598"	"00000272"	"55"	"713"	"0"	"713"	"0"	"c.713T>C"	"r.713u>c"	"p.Val238Ala"	"7"
"0000001599"	"00000272"	"55"	"1127"	"0"	"1127"	"0"	"c.1127A>G"	"r.1127a>g"	"p.Lys376Arg"	"9"
"0000001600"	"00000272"	"55"	"1513"	"0"	"1513"	"0"	"c.1513C>T"	"r.1513c>u"	"p.Pro505Ser"	"12"
"0000079500"	"00000272"	"00"	"-5646396"	"0"	"8388607"	"0"	"c.-5646396_*16225318dup"	""	""	""
"0000246384"	"00000272"	"30"	"713"	"0"	"713"	"0"	"c.713T>C"	"r.(?)"	"p.(Val238Ala)"	""
"0000255368"	"00000272"	"70"	"198"	"0"	"198"	"0"	"c.198del"	"r.(?)"	"p.(Arg68GlyfsTer12)"	""
"0000277542"	"00000272"	"50"	"1056"	"0"	"1056"	"0"	"c.1056G>A"	"r.(?)"	"p.(Leu352=)"	""
"0000277543"	"00000272"	"50"	"1309"	"0"	"1309"	"0"	"c.1309A>G"	"r.(?)"	"p.(Lys437Glu)"	""
"0000277544"	"00000272"	"10"	"1458"	"7"	"1458"	"7"	"c.1458+7G>A"	"r.(=)"	"p.(=)"	""
"0000277545"	"00000272"	"10"	"14"	"0"	"14"	"0"	"c.14C>A"	"r.(?)"	"p.(Ala5Glu)"	""
"0000277546"	"00000272"	"10"	"181"	"-15"	"181"	"-15"	"c.181-15G>C"	"r.(=)"	"p.(=)"	""
"0000277547"	"00000272"	"10"	"234"	"0"	"234"	"0"	"c.234C>T"	"r.(?)"	"p.(Asp78=)"	""
"0000277548"	"00000272"	"10"	"588"	"0"	"588"	"0"	"c.588C>T"	"r.(?)"	"p.(Cys196=)"	""
"0000281227"	"00000272"	"10"	"1458"	"7"	"1458"	"7"	"c.1458+7G>A"	"r.(=)"	"p.(=)"	""
"0000281228"	"00000272"	"10"	"-2994"	"0"	"-2994"	"0"	"c.-2994C>T"	"r.(?)"	"p.(=)"	""
"0000288932"	"00000272"	"90"	"1194"	"1"	"1194"	"1"	"c.1194+1G>A"	"r.spl?"	"p.?"	""
"0000288933"	"00000272"	"50"	"1445"	"0"	"1445"	"0"	"c.1445C>T"	"r.(?)"	"p.(Thr482Met)"	""
"0000288934"	"00000272"	"10"	"14"	"0"	"14"	"0"	"c.14C>A"	"r.(?)"	"p.(Ala5Glu)"	""
"0000288935"	"00000272"	"50"	"179"	"0"	"179"	"0"	"c.179A>C"	"r.(?)"	"p.(Lys60Thr)"	""
"0000288937"	"00000272"	"70"	"194"	"0"	"196"	"0"	"c.194_196del"	"r.(?)"	"p.(Tyr65_Ser66delinsCys)"	""
"0000288938"	"00000272"	"50"	"382"	"0"	"382"	"0"	"c.382C>T"	"r.(?)"	"p.(Arg128Cys)"	""
"0000288939"	"00000272"	"50"	"40"	"0"	"40"	"0"	"c.40C>A"	"r.(?)"	"p.(Gln14Lys)"	""
"0000288942"	"00000272"	"30"	"-2901"	"0"	"-2901"	"0"	"c.-2901A>G"	"r.(?)"	"p.(=)"	""
"0000439882"	"00000272"	"70"	"395"	"0"	"395"	"0"	"c.395C>T"	"r.(?)"	"p.Thr132Ile"	""
"0000480519"	"00000272"	"70"	"581"	"0"	"581"	"0"	"c.581T>C"	"r.(?)"	"p.(Ile194Thr)"	""
"0000524442"	"00000272"	"30"	"4478"	"0"	"4478"	"0"	"c.*2948C>G"	"r.(=)"	"p.(=)"	""
"0000524443"	"00000272"	"30"	"4465"	"0"	"4465"	"0"	"c.*2935G>A"	"r.(=)"	"p.(=)"	""
"0000524445"	"00000272"	"30"	"4286"	"0"	"4286"	"0"	"c.*2756G>A"	"r.(=)"	"p.(=)"	""
"0000524446"	"00000272"	"30"	"1201"	"0"	"1201"	"0"	"c.1201G>A"	"r.(?)"	"p.(Glu401Lys)"	""
"0000524447"	"00000272"	"50"	"1156"	"0"	"1156"	"0"	"c.1156G>T"	"r.(?)"	"p.(Val386Leu)"	""
"0000524448"	"00000272"	"10"	"1127"	"0"	"1127"	"0"	"c.1127A>G"	"r.(?)"	"p.(Lys376Arg)"	""
"0000524449"	"00000272"	"10"	"951"	"19"	"951"	"19"	"c.951+19G>A"	"r.(=)"	"p.(=)"	""
"0000524450"	"00000272"	"10"	"903"	"0"	"903"	"0"	"c.903C>T"	"r.(?)"	"p.(Asp301=)"	""
"0000524451"	"00000272"	"30"	"834"	"0"	"834"	"0"	"c.834C>A"	"r.(?)"	"p.(Ser278=)"	""
"0000524454"	"00000272"	"10"	"614"	"0"	"614"	"0"	"c.614G>A"	"r.(?)"	"p.(Gly205Asp)"	""
"0000524455"	"00000272"	"50"	"614"	"0"	"614"	"0"	"c.614G>A"	"r.(?)"	"p.(Gly205Asp)"	""
"0000524457"	"00000272"	"50"	"382"	"0"	"382"	"0"	"c.382C>T"	"r.(?)"	"p.(Arg128Cys)"	""
"0000524458"	"00000272"	"50"	"340"	"0"	"340"	"0"	"c.340A>G"	"r.(?)"	"p.(Ile114Val)"	""
"0000524459"	"00000272"	"30"	"246"	"0"	"246"	"0"	"c.246T>G"	"r.(?)"	"p.(Arg82=)"	""
"0000524460"	"00000272"	"70"	"191"	"0"	"191"	"0"	"c.191dup"	"r.(?)"	"p.(Asp64GlufsTer3)"	""
"0000524461"	"00000272"	"50"	"90"	"4"	"90"	"4"	"c.90+4A>C"	"r.spl?"	"p.?"	""
"0000524462"	"00000272"	"30"	"14"	"0"	"14"	"0"	"c.14C>A"	"r.(?)"	"p.(Ala5Glu)"	""
"0000524463"	"00000272"	"10"	"-6"	"0"	"-6"	"0"	"c.-6G>T"	"r.(?)"	"p.(=)"	""
"0000524464"	"00000272"	"30"	"-351"	"0"	"-351"	"0"	"c.-351G>C"	"r.(?)"	"p.(=)"	""
"0000524466"	"00000272"	"50"	"-4217"	"0"	"-4217"	"0"	"c.-4217C>T"	"r.(?)"	"p.(=)"	""
"0000524467"	"00000272"	"90"	"-4292"	"0"	"-4292"	"0"	"c.-4292dup"	"r.(?)"	"p.(=)"	""
"0000524468"	"00000272"	"30"	"-4472"	"0"	"-4472"	"0"	"c.-4472G>A"	"r.(?)"	"p.(=)"	""
"0000609525"	"00000272"	"50"	"713"	"0"	"713"	"0"	"c.713T>C"	"r.(?)"	"p.(Val238Ala)"	""
"0000609526"	"00000272"	"70"	"410"	"0"	"410"	"0"	"c.410G>A"	"r.(?)"	"p.(Arg137Gln)"	""
"0000609527"	"00000272"	"30"	"297"	"0"	"297"	"0"	"c.297A>G"	"r.(?)"	"p.(Leu99=)"	""
"0000609528"	"00000272"	"50"	"-2966"	"0"	"-2966"	"0"	"c.-2966T>C"	"r.(?)"	"p.(=)"	""
"0000609529"	"00000272"	"30"	"-4521"	"0"	"-4521"	"0"	"c.-4521A>G"	"r.(?)"	"p.(=)"	""
"0000621490"	"00000272"	"50"	"89"	"0"	"89"	"0"	"c.89T>G"	"r.(?)"	"p.(Leu30Arg)"	""
"0000621491"	"00000272"	"50"	"-2944"	"0"	"-2944"	"0"	"c.-2944C>T"	"r.(?)"	"p.(=)"	""
"0000647279"	"00000272"	"70"	"395"	"0"	"395"	"0"	"c.395C>T"	"r.(?)"	"p.(Thr132Ile)"	""
"0000651620"	"00000272"	"30"	"1445"	"0"	"1445"	"0"	"c.1445C>T"	"r.(?)"	"p.(Thr482Met)"	""
"0000651621"	"00000272"	"50"	"1361"	"0"	"1361"	"0"	"c.1361A>C"	"r.(?)"	"p.(Tyr454Ser)"	""
"0000651622"	"00000272"	"10"	"614"	"0"	"614"	"0"	"c.614G>A"	"r.(?)"	"p.(Gly205Asp)"	""
"0000651623"	"00000272"	"50"	"410"	"0"	"410"	"0"	"c.410G>A"	"r.(?)"	"p.(Arg137Gln)"	""
"0000655303"	"00000272"	"10"	"1261"	"0"	"1261"	"0"	"c.1261C>G"	"r.(?)"	"p.(Leu421Val)"	""
"0000655304"	"00000272"	"30"	"614"	"0"	"614"	"0"	"c.614G>A"	"r.(?)"	"p.(Gly205Asp)"	""
"0000655305"	"00000272"	"10"	"-2994"	"0"	"-2994"	"0"	"c.-2994C>T"	"r.(?)"	"p.(=)"	""
"0000677413"	"00000272"	"30"	"1446"	"0"	"1446"	"0"	"c.1446G>A"	"r.(?)"	"p.(Thr482=)"	""
"0000677414"	"00000272"	"50"	"743"	"0"	"743"	"0"	"c.743A>T"	"r.(?)"	"p.(Glu248Val)"	""
"0000677415"	"00000272"	"50"	"437"	"0"	"439"	"0"	"c.437_439dup"	"r.(?)"	"p.(Asn146dup)"	""
"0000689441"	"00000272"	"50"	"800"	"0"	"800"	"0"	"c.800T>C"	"r.(?)"	"p.(Ile267Thr)"	""
"0000720216"	"00000272"	"50"	"218"	"0"	"218"	"0"	"c.218G>A"	"r.(?)"	"p.(Arg73His)"	""
"0000720217"	"00000272"	"50"	"203"	"0"	"203"	"0"	"c.203G>A"	"r.(?)"	"p.(Arg68Gln)"	""
"0000759940"	"00000272"	"90"	"410"	"0"	"410"	"0"	"c.410G>A"	"r.(?)"	"p.(Arg137Gln)"	""
"0000759961"	"00000272"	"90"	"262"	"0"	"262"	"0"	"c.262G>A"	"r.(?)"	"p.(Gly88Ser)"	""
"0000784649"	"00000272"	"50"	"307"	"0"	"307"	"0"	"c.307C>G"	"r.(?)"	"p.(Leu103Val)"	""
"0000784650"	"00000272"	"50"	"1445"	"0"	"1445"	"0"	"c.1445C>T"	"r.(?)"	"p.(Thr482Met)"	""
"0000801922"	"00000272"	"10"	"1196"	"0"	"1196"	"0"	"c.1196C>T"	"r.(?)"	"p.(Ala399Val)"	""
"0000801923"	"00000272"	"50"	"202"	"0"	"202"	"0"	"c.202C>T"	"r.(?)"	"p.(Arg68Trp)"	""
"0000847527"	"00000272"	"70"	"1361"	"0"	"1361"	"0"	"c.1361A>C"	"r.(?)"	"p.(Tyr454Ser)"	""
"0000847528"	"00000272"	"70"	"1361"	"0"	"1361"	"0"	"c.1361A>C"	"r.(?)"	"p.(Tyr454Ser)"	""
"0000850802"	"00000272"	"50"	"410"	"0"	"410"	"0"	"c.410G>A"	"r.(?)"	"p.(Arg137Gln)"	""
"0000859779"	"00000272"	"50"	"1194"	"1"	"1194"	"1"	"c.1194+1G>A"	"r.spl?"	"p.?"	""
"0000859780"	"00000272"	"70"	"410"	"0"	"410"	"0"	"c.410G>A"	"r.(?)"	"p.(Arg137Gln)"	""
"0000886643"	"00000272"	"90"	"410"	"0"	"410"	"0"	"c.410G>A"	"r.(?)"	"p.(Arg137Gln)"	""
"0000886646"	"00000272"	"10"	"40"	"0"	"40"	"0"	"c.40C>A"	"r.(?)"	"p.(Gln14Lys)"	""
"0000912246"	"00000272"	"10"	"1196"	"0"	"1196"	"0"	"c.1196C>T"	"r.(?)"	"p.(Ala399Val)"	""
"0000994698"	"00000272"	"50"	"410"	"0"	"410"	"0"	"c.410G>A"	"r.(?)"	"p.(Arg137Gln)"	""
"0001025046"	"00000272"	"50"	"1194"	"1"	"1194"	"1"	"c.1194+1G>A"	"r.spl?"	"p.?"	""
"0001025047"	"00000272"	"50"	"713"	"0"	"713"	"0"	"c.713T>C"	"r.(?)"	"p.(Val238Ala)"	""
"0001068635"	"00000272"	"50"	"548"	"0"	"548"	"0"	"c.548A>G"	"r.(?)"	"p.(Asp183Gly)"	""
"0001069052"	"00000272"	"70"	"1393"	"0"	"1393"	"0"	"c.1393A>C"	"r.(?)"	"p.(Ile465Leu)"	""
"0001069179"	"00000272"	"50"	"730"	"-1"	"823"	"1"	"c.(729+1_730-1)_(823+1_824-1)dup"	"r.?"	"p.?"	"7i_8i"
"0001069262"	"00000272"	"50"	"464"	"0"	"464"	"0"	"c.464T>G"	"r.(?)"	"p.(Val155Gly)"	""
"0001069994"	"00000272"	"70"	"464"	"0"	"464"	"0"	"c.464T>G"	"r.(?)"	"p.(Val155Gly)"	""
"0001070136"	"00000272"	"50"	"90"	"4"	"90"	"4"	"c.90+4A>C"	"r.spl"	"p.?"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 26
"{{screeningid}}"	"{{variantid}}"
"0000000207"	"0000001595"
"0000000207"	"0000001596"
"0000000207"	"0000001597"
"0000000207"	"0000001598"
"0000000207"	"0000001599"
"0000000207"	"0000001600"
"0000050520"	"0000079500"
"0000209668"	"0000439882"
"0000232511"	"0000480519"
"0000290593"	"0000647279"
"0000294931"	"0000651620"
"0000294932"	"0000651621"
"0000294933"	"0000651622"
"0000294934"	"0000651623"
"0000360213"	"0000759940"
"0000360213"	"0000759961"
"0000373957"	"0000784649"
"0000373957"	"0000784650"
"0000410251"	"0000847527"
"0000410252"	"0000847528"
"0000474339"	"0001068635"
"0000474654"	"0001069052"
"0000474654"	"0001070136"
"0000474781"	"0001069179"
"0000474864"	"0001069262"
"0000475601"	"0001069994"