### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = IARS)
# 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}}"
"IARS"	"isoleucyl-tRNA synthetase"	"9"	"q21"	"unknown"	"NC_000009.11"	"UD_132464832447"	""	"http://www.LOVD.nl/IARS1"	""	"1"	"5330"	"3376"	"600709"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">NOTE: gene name changed from IARS to IARS1</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>."	""	"g"	"https://databases.lovd.nl/shared/refseq/IARS_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">NOTE: gene name changed from IARS to IARS1</font>"	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2021-12-13 14:01:46"	"00000"	"2025-05-05 21:14:00"


## 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}}"
"00025435"	"IARS"	"transcript variant 1"	"002"	"NM_002161.5"	""	"NP_002152.2"	""	""	""	"-153"	"4389"	"3789"	"95056038"	"94972489"	"00001"	"2019-07-18 10:09:38"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"06810"	"GRIDHH"	"Growth retardation, impaired intellectual development, hypotonia, and hepatopathy"	"AR"	"617093"	""	""	""	"00006"	"2021-12-10 23:20:41"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"IARS"	"06810"


## Individuals ## Do not remove or alter this header ##
## Count = 7
"{{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}}"
"00324464"	""	""	""	"1"	""	"00006"	"{PMID:Fuchs 2019:29875423}"	""	"F"	""	""	"00y04m"	"0"	""	""	""	"P1"
"00324465"	""	""	""	"1"	""	"00006"	"{PMID:Fuchs 2019:29875423}"	""	"M"	""	""	""	"0"	""	""	""	"P2"
"00431298"	""	""	""	"1"	""	"00006"	"{PMID:Kopajtichk 2016:27426735}, , {PMID:Yepez 2022:35379322}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"Germany"	""	"0"	""	""	""	"Pat1(65269)"
"00431299"	""	""	""	"1"	""	"00006"	"{PMID:Kopajtichk 2016:27426735}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"Japan"	""	"0"	""	""	""	"Pat2(85880)"
"00431300"	""	""	""	"1"	""	"00006"	"{PMID:Kopajtichk 2016:27426735}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"Australia"	""	"0"	""	""	""	"Pat3(83921)"
"00461031"	""	""	""	"1"	""	"04796"	""	""	""	""	"Netherlands"	""	"0"	""	""	""	""
"00461032"	""	""	""	"1"	""	"04796"	""	""	""	""	"Netherlands"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 7
"{{individualid}}"	"{{diseaseid}}"
"00324464"	"00198"
"00324465"	"00198"
"00431298"	"00198"
"00431299"	"00198"
"00431300"	"00198"
"00461031"	"00198"
"00461032"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 06810
## Count = 5
"{{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}}"
"0000243008"	"00198"	"00324464"	"00006"	"Familial, autosomal recessive"	"00y04m"	"see paper; 4m-deceased, ..."	""	""	""	""	""	""	""	""	""	""	""
"0000243009"	"00198"	"00324465"	"00006"	"Familial, autosomal recessive"	"05y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""
"0000321899"	"00198"	"00431298"	"00006"	"Familial, autosomal recessive"	"18y08m"	"see paper; ..., intrauterine growth retardation; growth retardation (-5.9SDS); moderate/severe intellectual disability, no expressive speech, spastic movement disorder (gross motor function classification system IV), muscular hypotonia, brain MRI; intermittently mildly affected hepatic synthesis; strabismus, feeding through percutaneous endoscopic gastrostomy, esophagitis, zinc deficiency"	""	""	""	""	""	""	""	""	"CAGSSS"	""	""
"0000321900"	"00198"	"00431299"	"00006"	"Familial, autosomal recessive"	"19y"	"see paper; ..., intrauterine growth retardation; growth retardation (-6.2SDS); moderate intellectual disability (IQ 50), normal motor function; elevated ALAT and ASAT, neonatal onset (steatosis, fibrosis); 5y-sensoneurinal hearing loss; 16y-diabetes mellitus, epilepsy, zinc deficiency"	""	""	""	""	""	""	""	""	"CAGSSS"	""	""
"0000321901"	"00198"	"00431300"	"00006"	"Familial, autosomal recessive"	"03y"	"see paper; ..., intrauterine growth retardation; growth retardation (-6.2SDS); moderate intellectual disability, moderate motor disability, muscular hypotonia; recurrent liver crises triggered by infections, infantile liver failure, neonatal onset (steatosis, fibrosis; peculiar facial distribution of subcutaneous fat (chubby cheeks), feeding through percutaneous endoscopic gastrostomy, zinc deficiency"	""	""	""	""	""	""	""	""	"CAGSSS"	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 7
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000325656"	"00324464"	"1"	"00006"	"00006"	"2020-12-14 10:42:41"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000325657"	"00324465"	"1"	"00006"	"00006"	"2020-12-14 10:45:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000432710"	"00431298"	"1"	"00006"	"00006"	"2023-02-07 20:47:37"	"00006"	"2023-02-07 21:10:20"	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"
"0000432711"	"00431299"	"1"	"00006"	"00006"	"2023-02-07 20:54:26"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000432712"	"00431300"	"1"	"00006"	"00006"	"2023-02-07 21:00:45"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000462663"	"00461031"	"1"	"04796"	"00006"	"2024-11-05 16:15:00"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	"blood"	"mRNA splicing analysis on tissue"
"0000462664"	"00461032"	"1"	"04796"	"00006"	"2024-11-05 16:15:00"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	"blood"	"mRNA splicing analysis on tissue"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}"	"{{geneid}}"
"0000325656"	"IARS"
"0000325657"	"IARS"
"0000462663"	"IARS"
"0000462664"	"IARS"


## 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 = 45
"{{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}}"
"0000289330"	"0"	"50"	"9"	"95033351"	"95033351"	"subst"	"0"	"01943"	"IARS_000003"	"g.95033351T>A"	""	""	""	"IARS(NM_013417.3):c.1121A>T (p.D374V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.92271069T>A"	""	"VUS"	""
"0000289331"	"0"	"30"	"9"	"95015698"	"95015698"	"subst"	"0.000186901"	"01943"	"IARS_000002"	"g.95015698C>T"	""	""	""	"IARS(NM_013417.3):c.2175G>A (p.K725=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.92253416C>T"	""	"likely benign"	""
"0000289332"	"0"	"30"	"9"	"95007308"	"95007308"	"subst"	"2.84271E-5"	"01943"	"IARS_000001"	"g.95007308C>T"	""	""	""	"IARS(NM_002161.5):c.2837G>A (p.(Arg946His)), IARS(NM_013417.3):c.2837G>A (p.R946H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.92245026C>T"	""	"likely benign"	""
"0000538658"	"0"	"50"	"9"	"95018964"	"95018964"	"subst"	"0"	"01943"	"IARS_000005"	"g.95018964G>A"	""	""	""	"IARS(NM_013417.3):c.2135C>T (p.A712V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.92256682G>A"	""	"VUS"	""
"0000538659"	"0"	"50"	"9"	"95019030"	"95019030"	"subst"	"3.24899E-5"	"01943"	"IARS_000006"	"g.95019030T>C"	""	""	""	"IARS(NM_013417.3):c.2069A>G (p.N690S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.92256748T>C"	""	"VUS"	""
"0000538660"	"0"	"50"	"9"	"95027284"	"95027284"	"subst"	"0"	"01943"	"IARS_000007"	"g.95027284C>G"	""	""	""	"IARS(NM_013417.3):c.1627G>C (p.E543Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.92265002C>G"	""	"VUS"	""
"0000538664"	"0"	"50"	"9"	"95040494"	"95040494"	"subst"	"0"	"01943"	"IARS_000011"	"g.95040494C>A"	""	""	""	"IARS(NM_013417.3):c.820G>T (p.E274*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.92278212C>A"	""	"VUS"	""
"0000612191"	"0"	"30"	"9"	"95033853"	"95033853"	"subst"	"0"	"01804"	"IARS_000012"	"g.95033853T>G"	""	""	""	"IARS(NM_002161.4):c.1075A>C (p.(Thr359Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.92271571T>G"	""	"likely benign"	""
"0000612192"	"0"	"30"	"9"	"95040494"	"95040494"	"subst"	"0"	"01804"	"IARS_000013"	"g.95040494C>G"	""	""	""	"IARS(NM_002161.4):c.820G>C (p.(Glu274Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.92278212C>G"	""	"likely benign"	""
"0000656388"	"0"	"30"	"9"	"95004477"	"95004477"	"subst"	"0.00469754"	"01804"	"IARS_000014"	"g.95004477C>T"	""	""	""	"IARS(NM_002161.4):c.3136G>A (p.(Val1046Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.92242195C>T"	""	"likely benign"	""
"0000678730"	"0"	"50"	"9"	"95003161"	"95003161"	"del"	"0"	"01943"	"IARS_000015"	"g.95003161del"	""	""	""	"IARS(NM_013417.3):c.3262delT (p.C1088Vfs*25)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000678731"	"0"	"50"	"9"	"95040161"	"95040161"	"subst"	"0"	"01804"	"IARS_000016"	"g.95040161A>G"	""	""	""	"IARS(NM_002161.4):c.878T>C (p.(Phe293Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000690607"	"0"	"30"	"9"	"95048868"	"95048868"	"subst"	"0.00102043"	"01943"	"IARS_000017"	"g.95048868G>A"	""	""	""	"IARS(NM_013417.3):c.429C>T (p.D143=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000708787"	"1"	"90"	"9"	"95030582"	"95030582"	"subst"	"8.36855E-6"	"00006"	"IARS_000008"	"g.95030582C>G"	""	"{PMID:Fuchs 2019:29875423}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000708788"	"2"	"90"	"9"	"94991319"	"94991319"	"dup"	"0"	"00006"	"IARS_000004"	"g.94991319dup"	""	"{PMID:Fuchs 2019:29875423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.92229037dup"	""	"pathogenic (recessive)"	""
"0000708789"	"2"	"90"	"9"	"94991319"	"94991319"	"dup"	"0"	"00006"	"IARS_000004"	"g.94991319dup"	""	"{PMID:Fuchs 2019:29875423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.92229037dup"	""	"pathogenic (recessive)"	""
"0000708790"	"1"	"90"	"9"	"95030582"	"95030582"	"subst"	"8.36855E-6"	"00006"	"IARS_000008"	"g.95030582C>G"	""	"{PMID:Fuchs 2019:29875423}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000722593"	"0"	"70"	"9"	"94991319"	"94991319"	"dup"	"0"	"02329"	"IARS_000004"	"g.94991319dup"	""	""	""	"IARS(NM_002161.6):c.3377dup (p.(Asn1126Lysfs*9)), IARS1(NM_013417.4):c.3377dupA (p.N1126Kfs*9)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000722594"	"0"	"50"	"9"	"95013009"	"95013009"	"subst"	"4.12082E-6"	"02325"	"IARS_000018"	"g.95013009C>G"	""	""	""	"IARS1(NM_002161.6):c.2415G>C (p.M805I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000722595"	"0"	"50"	"9"	"95030582"	"95030582"	"subst"	"8.36855E-6"	"02329"	"IARS_000008"	"g.95030582C>G"	""	""	""	"IARS1(NM_013417.4):c.1305G>C (p.W435C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000804222"	"0"	"30"	"9"	"94973152"	"94973152"	"subst"	"1.21875E-5"	"01943"	"IARS_000019"	"g.94973152G>A"	""	""	""	"IARS(NM_013417.3):c.3726C>T (p.P1242=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000804223"	"0"	"70"	"9"	"94985652"	"94985652"	"subst"	"0"	"01943"	"IARS_000020"	"g.94985652G>A"	""	""	""	"IARS(NM_013417.3):c.3529C>T (p.Q1177*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000804224"	"0"	"30"	"9"	"95036794"	"95036794"	"subst"	"0.00132554"	"01943"	"IARS_000021"	"g.95036794T>A"	""	""	""	"IARS(NM_013417.3):c.904A>T (p.N302Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000918283"	"11"	"90"	"9"	"95032219"	"95032219"	"subst"	"1.22001E-5"	"00006"	"IARS_000022"	"g.95032219G>A"	""	"{PMID:Kopajtichk 2016:27426735}, {PMID:Yepez 2022:35379322}"	""	""	"mono-allelic expression"	"Germline"	""	""	"0"	""	""	"g.92269937G>A"	""	"pathogenic (recessive)"	""
"0000918284"	"21"	"70"	"9"	"94985660"	"94985660"	"subst"	"4.06154E-6"	"00006"	"IARS_000023"	"g.94985660A>T"	""	"{PMID:Kopajtichk 2016:27426735}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.92223378A>T"	""	"likely pathogenic (recessive)"	""
"0000918285"	"11"	"90"	"9"	"95040554"	"95040554"	"subst"	"4.06491E-6"	"00006"	"IARS_000024"	"g.95040554G>A"	""	"{PMID:Kopajtichk 2016:27426735}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.92278272G>A"	""	"pathogenic (recessive)"	""
"0000918286"	"21"	"70"	"9"	"95030577"	"95030577"	"subst"	"0"	"00006"	"IARS_000025"	"g.95030577G>A"	""	"{PMID:Kopajtichk 2016:27426735}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.92268295G>A"	""	"likely pathogenic (recessive)"	""
"0000918287"	"21"	"70"	"9"	"95033819"	"95033819"	"subst"	"0"	"00006"	"IARS_000026"	"g.95033819A>C"	""	"{PMID:Kopajtichk 2016:27426735}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.92271537A>C"	""	"likely pathogenic (recessive)"	""
"0000918288"	"11"	"70"	"9"	"95005524"	"95005524"	"subst"	"0"	"00006"	"IARS_000027"	"g.95005524T>C"	""	"{PMID:Kopajtichk 2016:27426735}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.92243242T>C"	""	"likely pathogenic (recessive)"	""
"0000978806"	"0"	"50"	"9"	"95015733"	"95015733"	"subst"	"0"	"01804"	"IARS_000028"	"g.95015733A>T"	""	""	""	"IARS(NM_002161.6):c.2140T>A (p.(Tyr714Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000978807"	"0"	"30"	"9"	"95025348"	"95025348"	"dup"	"0"	"01804"	"IARS_000029"	"g.95025348dup"	""	""	""	"IARS(NM_002161.6):c.1701-4dup"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978808"	"0"	"30"	"9"	"95027201"	"95027201"	"subst"	"0"	"01804"	"IARS_000030"	"g.95027201G>C"	""	""	""	"IARS(NM_002161.6):c.1700+10C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978809"	"0"	"30"	"9"	"95030529"	"95030529"	"subst"	"0.000729658"	"01804"	"IARS_000031"	"g.95030529C>T"	""	""	""	"IARS(NM_002161.6):c.1358G>A (p.(Arg453His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978810"	"0"	"30"	"9"	"95043019"	"95043019"	"subst"	"0.00051699"	"01804"	"IARS_000032"	"g.95043019C>T"	""	""	""	"IARS(NM_002161.6):c.745+9G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978811"	"0"	"50"	"9"	"95050136"	"95050136"	"subst"	"5.28262E-5"	"01804"	"IARS_000033"	"g.95050136C>G"	""	""	""	"IARS(NM_002161.6):c.333G>C (p.(Met111Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000978812"	"0"	"50"	"9"	"95050501"	"95050501"	"subst"	"1.21889E-5"	"01804"	"IARS_000034"	"g.95050501C>T"	""	""	""	"IARS(NM_002161.6):c.183G>A (p.(Ala61=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000997998"	"0"	"30"	"9"	"95007308"	"95007308"	"subst"	"2.84271E-5"	"01804"	"IARS_000001"	"g.95007308C>T"	""	""	""	"IARS(NM_002161.5):c.2837G>A (p.(Arg946His)), IARS(NM_013417.3):c.2837G>A (p.R946H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997999"	"0"	"30"	"9"	"95022464"	"95022464"	"subst"	"6.49841E-5"	"01804"	"IARS_000035"	"g.95022464T>C"	""	""	""	"IARS(NM_002161.5):c.1840A>G (p.(Ile614Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000998000"	"0"	"50"	"9"	"95043108"	"95043108"	"subst"	"6.91029E-5"	"01804"	"IARS_000036"	"g.95043108G>C"	""	""	""	"IARS(NM_002161.5):c.665C>G (p.(Ala222Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001022190"	"0"	"70"	"9"	"95048006"	"95048006"	"subst"	"0"	"04796"	"IARS_000038"	"g.95048006T>A"	""	""	""	""	"effect on RNA exclusion of exon"	"In vitro (cloned)"	""	""	"0"	""	""	"g.92285724T>A"	""	"likely pathogenic"	""
"0001022191"	"0"	"50"	"9"	"94985576"	"94985576"	"subst"	"0"	"04796"	"IARS_000037"	"g.94985576C>T"	""	""	""	""	"no effect on RNA"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.92223294C>T"	""	"VUS"	""
"0001037628"	"0"	"90"	"9"	"94991319"	"94991319"	"dup"	"0"	"01804"	"IARS_000004"	"g.94991319dup"	""	""	""	"IARS(NM_002161.6):c.3377dup (p.(Asn1126Lysfs*9)), IARS1(NM_013417.4):c.3377dupA (p.N1126Kfs*9)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001037629"	"0"	"50"	"9"	"95021210"	"95021210"	"subst"	"0"	"01804"	"IARS_000039"	"g.95021210C>A"	""	""	""	"IARS(NM_002161.6):c.1942G>T (p.(Val648Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037630"	"0"	"50"	"9"	"95022446"	"95022446"	"dup"	"0"	"01804"	"IARS_000040"	"g.95022446dup"	""	""	""	"IARS(NM_002161.6):c.1858dup (p.(Ala620Glyfs*2))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037631"	"0"	"50"	"9"	"95036808"	"95036808"	"subst"	"0.000264387"	"01804"	"IARS_000041"	"g.95036808A>T"	""	""	""	"IARS(NM_001378571.1):c.911T>A (p.(Phe304Tyr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## 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 IARS
## Count = 45
"{{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}}"
"0000289330"	"00025435"	"50"	"1121"	"0"	"1121"	"0"	"c.1121A>T"	"r.(?)"	"p.(Asp374Val)"	""
"0000289331"	"00025435"	"30"	"2175"	"0"	"2175"	"0"	"c.2175G>A"	"r.(?)"	"p.(Lys725=)"	""
"0000289332"	"00025435"	"30"	"2837"	"0"	"2837"	"0"	"c.2837G>A"	"r.(?)"	"p.(Arg946His)"	""
"0000538658"	"00025435"	"50"	"2135"	"0"	"2135"	"0"	"c.2135C>T"	"r.(?)"	"p.(Ala712Val)"	""
"0000538659"	"00025435"	"50"	"2069"	"0"	"2069"	"0"	"c.2069A>G"	"r.(?)"	"p.(Asn690Ser)"	""
"0000538660"	"00025435"	"50"	"1627"	"0"	"1627"	"0"	"c.1627G>C"	"r.(?)"	"p.(Glu543Gln)"	""
"0000538664"	"00025435"	"50"	"820"	"0"	"820"	"0"	"c.820G>T"	"r.(?)"	"p.(Glu274Ter)"	""
"0000612191"	"00025435"	"30"	"1075"	"0"	"1075"	"0"	"c.1075A>C"	"r.(?)"	"p.(Thr359Pro)"	""
"0000612192"	"00025435"	"30"	"820"	"0"	"820"	"0"	"c.820G>C"	"r.(?)"	"p.(Glu274Gln)"	""
"0000656388"	"00025435"	"30"	"3136"	"0"	"3136"	"0"	"c.3136G>A"	"r.(?)"	"p.(Val1046Ile)"	""
"0000678730"	"00025435"	"50"	"3262"	"0"	"3262"	"0"	"c.3262del"	"r.(?)"	"p.(Cys1088ValfsTer25)"	""
"0000678731"	"00025435"	"50"	"878"	"0"	"878"	"0"	"c.878T>C"	"r.(?)"	"p.(Phe293Ser)"	""
"0000690607"	"00025435"	"30"	"429"	"0"	"429"	"0"	"c.429C>T"	"r.(?)"	"p.(Asp143=)"	""
"0000708787"	"00025435"	"90"	"1305"	"0"	"1305"	"0"	"c.1305G>C"	"r.(?)"	"p.(Trp435Cys)"	""
"0000708788"	"00025435"	"90"	"3377"	"0"	"3377"	"0"	"c.3377dup"	"r.(?)"	"p.(Asn1126Lysfs*9)"	""
"0000708789"	"00025435"	"90"	"3377"	"0"	"3377"	"0"	"c.3377dup"	"r.(?)"	"p.(Asn1126Lysfs*9)"	""
"0000708790"	"00025435"	"90"	"1305"	"0"	"1305"	"0"	"c.1305G>C"	"r.(?)"	"p.(Trp435Cys)"	""
"0000722593"	"00025435"	"70"	"3377"	"0"	"3377"	"0"	"c.3377dup"	"r.(?)"	"p.(Asn1126LysfsTer9)"	""
"0000722594"	"00025435"	"50"	"2415"	"0"	"2415"	"0"	"c.2415G>C"	"r.(?)"	"p.(Met805Ile)"	""
"0000722595"	"00025435"	"50"	"1305"	"0"	"1305"	"0"	"c.1305G>C"	"r.(?)"	"p.(Trp435Cys)"	""
"0000804222"	"00025435"	"30"	"3726"	"0"	"3726"	"0"	"c.3726C>T"	"r.(?)"	"p.(Pro1242=)"	""
"0000804223"	"00025435"	"70"	"3529"	"0"	"3529"	"0"	"c.3529C>T"	"r.(?)"	"p.(Gln1177*)"	""
"0000804224"	"00025435"	"30"	"904"	"0"	"904"	"0"	"c.904A>T"	"r.(?)"	"p.(Asn302Tyr)"	""
"0000918283"	"00025435"	"90"	"1252"	"0"	"1252"	"0"	"c.1252C>T"	"r.0"	"p.0"	""
"0000918284"	"00025435"	"70"	"3521"	"0"	"3521"	"0"	"c.3521T>A"	"r.(?)"	"p.(Ile1174Asn)"	""
"0000918285"	"00025435"	"90"	"760"	"0"	"760"	"0"	"c.760C>T"	"r.(?)"	"p.(Arg254*)"	""
"0000918286"	"00025435"	"70"	"1310"	"0"	"1310"	"0"	"c.1310C>T"	"r.(?)"	"p.(Pro437Leu)"	""
"0000918287"	"00025435"	"70"	"1109"	"0"	"1109"	"0"	"c.1109T>G"	"r.(?)"	"p.(Val370Gly)"	""
"0000918288"	"00025435"	"70"	"2974"	"0"	"2974"	"0"	"c.2974A>G"	"r.(?)"	"p.(Asn992Asp)"	""
"0000978806"	"00025435"	"50"	"2140"	"0"	"2140"	"0"	"c.2140T>A"	"r.(?)"	"p.(Tyr714Asn)"	""
"0000978807"	"00025435"	"30"	"1701"	"-4"	"1701"	"-4"	"c.1701-4dup"	"r.spl?"	"p.?"	""
"0000978808"	"00025435"	"30"	"1700"	"10"	"1700"	"10"	"c.1700+10C>G"	"r.(=)"	"p.(=)"	""
"0000978809"	"00025435"	"30"	"1358"	"0"	"1358"	"0"	"c.1358G>A"	"r.(?)"	"p.(Arg453His)"	""
"0000978810"	"00025435"	"30"	"745"	"9"	"745"	"9"	"c.745+9G>A"	"r.(=)"	"p.(=)"	""
"0000978811"	"00025435"	"50"	"333"	"0"	"333"	"0"	"c.333G>C"	"r.(?)"	"p.(Met111Ile)"	""
"0000978812"	"00025435"	"50"	"183"	"0"	"183"	"0"	"c.183G>A"	"r.(?)"	"p.(=)"	""
"0000997998"	"00025435"	"30"	"2837"	"0"	"2837"	"0"	"c.2837G>A"	"r.(?)"	"p.(Arg946His)"	""
"0000997999"	"00025435"	"30"	"1840"	"0"	"1840"	"0"	"c.1840A>G"	"r.(?)"	"p.(Ile614Val)"	""
"0000998000"	"00025435"	"50"	"665"	"0"	"665"	"0"	"c.665C>G"	"r.(?)"	"p.(Ala222Gly)"	""
"0001022190"	"00025435"	"70"	"595"	"0"	"595"	"0"	"c.595A>T"	"r.[397_597del,=]"	"p.[Ser133_Lys199del,Lys199Ter]"	"6"
"0001022191"	"00025435"	"50"	"3553"	"52"	"3553"	"52"	"c.3553+52G>A"	"r.3553_3554="	"p.="	"32i"
"0001037628"	"00025435"	"90"	"3377"	"0"	"3377"	"0"	"c.3377dup"	"r.(?)"	"p.(Asn1126LysfsTer9)"	""
"0001037629"	"00025435"	"50"	"1942"	"0"	"1942"	"0"	"c.1942G>T"	"r.(?)"	"p.(Val648Phe)"	""
"0001037630"	"00025435"	"50"	"1858"	"0"	"1858"	"0"	"c.1858dup"	"r.(?)"	"p.(Ala620Glyfs*2)"	""
"0001037631"	"00025435"	"50"	"895"	"-5"	"895"	"-5"	"c.895-5T>A"	"r.spl?"	"p.?"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 12
"{{screeningid}}"	"{{variantid}}"
"0000325656"	"0000708787"
"0000325656"	"0000708788"
"0000325657"	"0000708789"
"0000325657"	"0000708790"
"0000432710"	"0000918283"
"0000432710"	"0000918284"
"0000432711"	"0000918285"
"0000432711"	"0000918286"
"0000432712"	"0000918287"
"0000432712"	"0000918288"
"0000462663"	"0001022190"
"0000462664"	"0001022191"