### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = TIMM8A)
# 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}}"
"TIMM8A"	"translocase of inner mitochondrial membrane 8 homolog A (yeast)"	"X"	"q22"	"unknown"	"NG_011734.1"	"UD_132084404870"	""	"https://www.LOVD.nl/TIMM8A"	""	"1"	"11817"	"1678"	"300356"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>\r\nEstablishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"https://databases.lovd.nl/shared/refseq/TIMM8A_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00001"	"2012-07-18 00:00:00"	"00006"	"2018-08-22 19:54:12"	"00000"	"2024-08-28 13:16:32"


## 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}}"
"00021136"	"TIMM8A"	"transcript variant 1"	"001"	"NM_004085.3"	""	"NP_004076.1"	""	""	""	"-305"	"1137"	"294"	"100603957"	"100600644"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 3
"{{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"
"02184"	"XLA;AGMX1"	"agammaglobulinemia, X-linked (XLA, agammaglobulinemia, X-linked, type 1 (AGMX-1))"	"XLR"	"300755"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"02230"	"MTS"	"Mohr-Tranebjaerg syndrome (MTS, Jensen syndrome)"	"XLR"	"304700"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"TIMM8A"	"02230"


## 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}}"
"00179459"	""	""	""	"1"	""	"00006"	"{PMID:Arai 2011:21753765}"	""	"M"	""	"Japan"	""	"0"	""	""	""	"21753765-Pat1"
"00179460"	""	""	""	"1"	""	"00006"	"{PMID:Arai 2011:21753765}"	""	"M"	""	"Japan"	""	"0"	""	""	""	"21753765-Pat2"
"00179461"	""	""	""	"1"	""	"00006"	"{PMID:Arai 2011:21753765}"	""	"M"	""	"Japan"	""	"0"	""	""	""	"21753765-Pat3"
"00234323"	""	""	""	"1"	""	"01807"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00285760"	""	""	""	"1"	""	"00004"	"{PMID:Ujike 2001:11405816}, {PMID:Tranebjærg 1993:20301395}"	""	""	""	""	""	"0"	""	""	""	""
"00285761"	""	""	""	"1"	""	"00004"	"{PMID:Tranebjaerg 2000:10878669}, {PMID:Tranebjærg 1993:20301395}, {PMID:Hofmann 2002:11956200}, {PMID:Engl 2012:21984432}"	""	""	""	""	""	"0"	""	""	""	""
"00285762"	""	""	""	"1"	""	"00004"	"{PMID:Jin 1996:8841189}"	""	""	""	""	""	"0"	""	""	""	""
"00285763"	""	""	""	"1"	""	"00004"	"{PMID:Ezquerra 2005:15710860}"	""	""	""	""	""	"0"	""	""	""	""
"00285764"	""	""	""	"1"	""	"00004"	"{PMID:Kim 2007:17534980}"	""	""	""	""	""	"0"	""	""	""	""
"00285765"	""	""	""	"1"	""	"00004"	"{PMID:Aguirre 2008:18952432}"	""	""	""	""	""	"0"	""	""	""	""
"00285766"	""	""	""	"1"	""	"00004"	"{PMID:Aguirre 2006:16411215}"	""	""	""	""	""	"0"	""	""	""	""
"00285767"	""	""	""	"1"	""	"00004"	"{PMID:Jin 1996:8841189}"	""	""	""	""	""	"0"	""	""	""	""
"00285768"	""	""	""	"1"	""	"00004"	"{PMID:Tranebjærg 1993:20301395}, {PMID:Blesa 2007:17999202}"	""	""	""	""	""	"0"	""	""	""	""
"00285769"	""	""	""	"1"	""	"00004"	""	""	""	""	""	""	"0"	""	""	""	""
"00285770"	""	""	""	"1"	""	"00004"	"{PMID:Swerdlow 2001:11601506}"	""	""	""	""	""	"0"	""	""	""	""
"00285771"	""	""	""	"1"	""	"00004"	"{PMID:Tranebjærg 1993:20301395}"	""	""	""	""	""	"0"	""	""	""	""
"00285772"	""	""	""	"1"	""	"00004"	"{PMID:Ha 2012:22736418}"	""	""	""	""	""	"0"	""	""	""	""
"00285773"	""	""	""	"1"	""	"00004"	"{PMID:Binder 2003:12805099}"	""	""	""	""	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 17
"{{individualid}}"	"{{diseaseid}}"
"00179459"	"02184"
"00179460"	"02184"
"00179461"	"02184"
"00234323"	"00198"
"00285760"	"02230"
"00285761"	"02230"
"00285762"	"02230"
"00285763"	"02230"
"00285764"	"02230"
"00285765"	"02230"
"00285766"	"02230"
"00285767"	"02230"
"00285768"	"02230"
"00285770"	"02230"
"00285771"	"00198"
"00285772"	"02230"
"00285773"	"02230"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 02184, 02230
## Count = 17
"{{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/BCells}}"	"{{Phenotype/BCells_surf_Ig}}"	"{{Phenotype/CD19}}"	"{{Phenotype/CD20}}"	"{{Phenotype/Immunoglobulin/IgA}}"	"{{Phenotype/Immunoglobulin/IgE}}"	"{{Phenotype/Immunoglobulin/IgG}}"	"{{Phenotype/Immunoglobulin/IgG/IgG1}}"	"{{Phenotype/Immunoglobulin/IgG/IgG2}}"	"{{Phenotype/Immunoglobulin/IgG/IgG3}}"	"{{Phenotype/Immunoglobulin/IgG/IgG4}}"	"{{Phenotype/Immunoglobulin/IgM}}"	"{{Phenotype/Enzyme/Kinase}}"	"{{Phenotype/CD3}}"	"{{Phenotype/CD4}}"	"{{Phenotype/CD8}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000141945"	"02184"	"00179459"	"00006"	"Familial, X-linked recessive"	""	"6y-gradually worsening deafness; 7y-recurrent bacterial infections"	""	"07y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"XLA"	"immunodeficiency, neurological deficits"	""
"0000141946"	"02184"	"00179460"	"00006"	"Familial, X-linked recessive"	"10y"	"recurrent otitis media and sinusitis; 18m-deafness, autism; 8y-agammaglobulinemia, lack of circulating B cells"	"01y"	"08y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"XLA"	"recurrent otitis media and sinusitis"	""
"0000141947"	"02184"	"00179461"	"00006"	"Familial, X-linked recessive"	""	"agammaglobulinemia; 3y-sensorineural hearing loss"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"XLA"	"agammaglobulinemia"	""
"0000174742"	"00198"	"00234323"	"01807"	"Unknown"	""	"Bilateral sensorineural hearing impairment (HP:0008619); Dystonia (HP:0001332); Blepharospasm (HP:0000643); Tremor (HP:0001337)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000217321"	"00198"	"00285771"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Jensen syndrome"	""
"0000217998"	"02230"	"00285760"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Mohr-Tranebjaerg syndrome"	""
"0000217999"	"02230"	"00285761"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Mohr-Tranebjaerg syndrome"	""
"0000218000"	"02230"	"00285762"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Mohr-Tranebjaerg syndrome"	""
"0000218001"	"02230"	"00285763"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Mohr-Tranebjaerg syndrome"	""
"0000218002"	"02230"	"00285764"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Mohr-Tranebjaerg syndrome"	""
"0000218003"	"02230"	"00285765"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Mohr-Tranebjaerg syndrome"	""
"0000218004"	"02230"	"00285766"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Mohr-Tranebjaerg syndrome"	""
"0000218005"	"02230"	"00285767"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Mohr-Tranebjaerg syndrome"	""
"0000218006"	"02230"	"00285768"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Mohr-Tranebjaerg syndrome"	""
"0000218007"	"02230"	"00285770"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Mohr-Tranebjaerg syndrome"	""
"0000218008"	"02230"	"00285772"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Mohr-Tranebjaerg syndrome"	""
"0000218009"	"02230"	"00285773"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Mohr-Tranebjaerg syndrome"	""


## 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}}"
"0000180363"	"00179459"	"1"	"00006"	"00006"	"2018-08-22 19:49:52"	""	""	"arrayCGH;FISH;PCR;SEQ"	"DNA"	""	""
"0000180364"	"00179460"	"1"	"00006"	"00006"	"2018-08-22 20:28:18"	""	""	"arrayCGH;FISH;PCR"	"DNA"	""	""
"0000180365"	"00179461"	"1"	"00006"	"00006"	"2018-08-22 20:59:13"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000235423"	"00234323"	"1"	"01807"	"01807"	"2019-05-07 14:50:36"	""	""	"SEQ"	"DNA"	""	""
"0000286910"	"00285760"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286911"	"00285761"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286912"	"00285762"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286913"	"00285763"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286914"	"00285764"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286915"	"00285765"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286916"	"00285766"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286917"	"00285767"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286918"	"00285768"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286919"	"00285769"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286920"	"00285770"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286921"	"00285771"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286922"	"00285772"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286923"	"00285773"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 17
"{{screeningid}}"	"{{geneid}}"
"0000180363"	"BTK"
"0000180364"	"BTK"
"0000180365"	"BTK"
"0000286910"	"TIMM8A"
"0000286911"	"TIMM8A"
"0000286912"	"TIMM8A"
"0000286913"	"TIMM8A"
"0000286914"	"TIMM8A"
"0000286915"	"TIMM8A"
"0000286916"	"TIMM8A"
"0000286917"	"TIMM8A"
"0000286918"	"TIMM8A"
"0000286919"	"TIMM8A"
"0000286920"	"TIMM8A"
"0000286921"	"TIMM8A"
"0000286922"	"TIMM8A"
"0000286923"	"TIMM8A"


## 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 = 41
"{{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}}"
"0000252446"	"0"	"70"	"X"	"100608319"	"100608319"	"subst"	"0"	"02326"	"BTK_000906"	"g.100608319A>G"	""	""	""	"BTK(NM_000061.2):c.1771T>C (p.Y591H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101353331A>G"	""	"likely pathogenic"	""
"0000269400"	"0"	"90"	"X"	"100608924"	"100608924"	"subst"	"0"	"02326"	"BTK_000229"	"g.100608924G>A"	""	""	""	"BTK(NM_000061.2):c.1684C>T (p.R562W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101353936G>A"	""	"pathogenic"	""
"0000269401"	"0"	"50"	"X"	"100608909"	"100608909"	"subst"	"0"	"02326"	"BTK_000556"	"g.100608909C>G"	""	""	""	"BTK(NM_000061.2):c.1699G>C (p.E567Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101353921C>G"	""	"VUS"	""
"0000269402"	"0"	"90"	"X"	"100608875"	"100608875"	"subst"	"0"	"02326"	"BTK_000437"	"g.100608875G>T"	""	""	""	"BTK(NM_000061.2):c.1733C>A (p.S578Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101353887G>T"	""	"pathogenic"	""
"0000269403"	"0"	"10"	"X"	"100608191"	"100608191"	"subst"	"0.311432"	"02326"	"BTK_000001"	"g.100608191G>A"	""	""	""	"BTK(NM_000061.2):c.1899C>T (p.C633=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101353203G>A"	""	"benign"	""
"0000272211"	"0"	"50"	"X"	"100608337"	"100608337"	"subst"	"1.11929E-5"	"01943"	"BTK_000907"	"g.100608337C>T"	""	""	""	"BTK(NM_001287344.1):c.1855G>A (p.V619I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101353349C>T"	""	"VUS"	""
"0000272212"	"0"	"30"	"X"	"100608205"	"100608205"	"subst"	"5.59898E-6"	"01943"	"BTK_000905"	"g.100608205T>C"	""	""	""	"BTK(NM_001287344.1):c.1987A>G (p.I663V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101353217T>C"	""	"likely benign"	""
"0000309201"	"0"	"10"	"X"	"100603658"	"100603658"	"subst"	"0.0068325"	"02330"	"TIMM8A_000002"	"g.100603658G>A"	""	""	""	"TIMM8A(NM_004085.4):c.-6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101348670G>A"	""	"benign"	""
"0000311854"	"0"	"30"	"X"	"100603658"	"100603658"	"subst"	"0.0068325"	"02325"	"TIMM8A_000002"	"g.100603658G>A"	""	""	""	"TIMM8A(NM_004085.4):c.-6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101348670G>A"	""	"likely benign"	""
"0000313324"	"0"	"50"	"X"	"100601543"	"100601543"	"subst"	"0"	"02329"	"TIMM8A_000001"	"g.100601543G>C"	""	""	""	"TIMM8A(NM_004085.4):c.238C>G (p.R80G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101346555G>C"	""	"VUS"	""
"0000336873"	"0"	"90"	"X"	"100603520"	"100603520"	"subst"	"0"	"02327"	"TIMM8A_000006"	"g.100603520C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101348532C>T"	""	"pathogenic"	""
"0000343387"	"0"	"90"	"X"	"100601543"	"100601543"	"subst"	"0"	"02327"	"TIMM8A_000003"	"g.100601543G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101346555G>A"	""	"pathogenic"	""
"0000344444"	"0"	"90"	"X"	"100601583"	"100601583"	"subst"	"0"	"02327"	"TIMM8A_000004"	"g.100601583G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101346595G>C"	""	"pathogenic"	""
"0000350800"	"0"	"90"	"X"	"100603516"	"100603516"	"subst"	"0"	"02327"	"TIMM8A_000005"	"g.100603516C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101348528C>T"	""	"pathogenic"	""
"0000403841"	"0"	"90"	"X"	"100546977"	"100610017"	"del"	"0"	"00006"	"BTK_000929"	"g.100546977_100610017del"	""	"{PMID:Arai 2011:21753765}"	""	""	"63 kb deletion"	"Germline"	""	""	"0"	""	""	"g.101291989_101355029del"	""	"pathogenic (recessive)"	""
"0000403842"	"0"	"90"	"X"	"100470587"	"100620286"	"del"	"0"	"00006"	"BTK_000930"	"g.100470587_100620286del"	""	"{PMID:Arai 2011:21753765}"	""	""	"149.7 kb deletion"	"Germline"	""	""	"0"	""	""	"g.101215595_101365294del"	""	"pathogenic (recessive)"	""
"0000403843"	"0"	"90"	"X"	"100443248"	"100639269"	"del"	"0"	"00006"	"BTK_000931"	"g.100443248_100639269del"	""	"{PMID:Arai 2011:21753765}"	""	""	"196 kb deletion (sequences Fig.3 incorrect, top BTK, bottom DRP2, junction sequence?)"	"Germline"	""	""	"0"	""	""	"g.101188262_101384283del"	""	"pathogenic"	""
"0000478177"	"3"	"90"	"X"	"100601649"	"100601649"	"subst"	"0"	"01807"	"TIMM8A_000008"	"g.100601649C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.101346661C>A"	""	"pathogenic"	""
"0000572560"	"0"	"50"	"X"	"100604919"	"100604919"	"subst"	"0"	"01943"	"BTK_000958"	"g.100604919T>C"	""	""	""	"BTK(NM_001287344.1):c.2036A>G (p.K679R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.101349931T>C"	""	"VUS"	""
"0000572561"	"0"	"30"	"X"	"100608907"	"100608907"	"subst"	"0.00012867"	"02326"	"BTK_000959"	"g.100608907T>C"	""	""	""	"BTK(NM_000061.2):c.1701A>G (p.E567=), BTK(NM_001287344.1):c.1803A>G (p.E601=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.101353919T>C"	""	"likely benign"	""
"0000618688"	"0"	"30"	"X"	"100608848"	"100608848"	"subst"	"7.27484E-5"	"01943"	"BTK_000966"	"g.100608848A>G"	""	""	""	"BTK(NM_001287344.1):c.1852+10T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.101353860A>G"	""	"likely benign"	""
"0000624346"	"0"	"30"	"X"	"100603663"	"100603663"	"subst"	"0.00042604"	"02330"	"BTK_000965"	"g.100603663C>A"	""	""	""	"TIMM8A(NM_001145951.2):c.-11G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.101348675C>A"	""	"likely benign"	""
"0000642652"	"1"	"99"	"X"	"100601543"	"100601543"	"subst"	"0"	"00004"	"TIMM8A_000003"	"g.100601543G>A"	""	"{DB:DVD}, {PMID:Ujike 2001:11405816}, {PMID:Tranebjærg 1993:20301395}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.101346555G>A"	""	"pathogenic"	""
"0000642653"	"1"	"99"	"X"	"100601583"	"100601583"	"subst"	"0"	"00004"	"TIMM8A_000004"	"g.100601583G>C"	""	"{DB:DVD}, {PMID:Tranebjaerg 2000:10878669}, {PMID:Tranebjærg 1993:20301395}, {PMID:Hofmann 2002:11956200}, {PMID:Engl 2012:21984432}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.101346595G>C"	""	"pathogenic"	""
"0000642654"	"1"	"99"	"X"	"100601625"	"100601634"	"del"	"0"	"00004"	"TIMM8A_000009"	"g.100601625_100601634del"	""	"{DB:DVD}, {PMID:Jin 1996:8841189}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.101346637_101346646del"	""	"pathogenic"	""
"0000642655"	"1"	"99"	"X"	"100601671"	"100601671"	"subst"	"0"	"00004"	"TIMM8A_000010"	"g.100601671T>G"	""	"{DB:DVD}, {PMID:Ezquerra 2005:15710860}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.101346683T>G"	""	"pathogenic"	""
"0000642656"	"1"	"99"	"X"	"100603520"	"100603520"	"subst"	"0"	"00004"	"TIMM8A_000006"	"g.100603520C>T"	""	"{DB:DVD}, {PMID:Kim 2007:17534980}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.101348532C>T"	""	"pathogenic"	""
"0000642657"	"1"	"99"	"X"	"100603520"	"100603520"	"subst"	"0"	"00004"	"TIMM8A_000011"	"g.100603520C>A"	""	"{DB:DVD}, {PMID:Aguirre 2008:18952432}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.101348532C>A"	""	"pathogenic"	""
"0000642658"	"1"	"99"	"X"	"100603528"	"100603528"	"del"	"0"	"00004"	"TIMM8A_000012"	"g.100603528del"	""	"{DB:DVD}, {PMID:Aguirre 2006:16411215}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.101348540del"	""	"pathogenic"	""
"0000642659"	"1"	"99"	"X"	"100603537"	"100603537"	"del"	"0"	"00004"	"TIMM8A_000013"	"g.100603537del"	""	"{DB:DVD}, {PMID:Jin 1996:8841189}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.101348549del"	""	"pathogenic"	""
"0000642660"	"1"	"99"	"X"	"100603541"	"100603541"	"subst"	"0"	"00004"	"TIMM8A_000014"	"g.100603541G>A"	""	"{DB:DVD}, {PMID:Tranebjærg 1993:20301395}, {PMID:Blesa 2007:17999202}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.101348553G>A"	""	"pathogenic"	""
"0000642661"	"1"	"99"	"X"	"100603553"	"100603553"	"subst"	"0"	"00004"	"TIMM8A_000015"	"g.100603553G>A"	""	"{DB:DVD}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.101348565G>A"	""	"pathogenic"	""
"0000642662"	"1"	"99"	"X"	"100603581"	"100603581"	"del"	"0"	"00004"	"TIMM8A_000016"	"g.100603581del"	""	"{DB:DVD}, {PMID:Swerdlow 2001:11601506}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.101348593del"	""	"pathogenic"	""
"0000642663"	"1"	"99"	"X"	"100603583"	"100603583"	"subst"	"0"	"00004"	"TIMM8A_000017"	"g.100603583C>A"	""	"{DB:DVD}, {PMID:Tranebjærg 1993:20301395}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.101348595C>A"	""	"pathogenic"	""
"0000642664"	"1"	"99"	"X"	"100603601"	"100603601"	"subst"	"0"	"00004"	"TIMM8A_000018"	"g.100603601G>A"	""	"{DB:DVD}, {PMID:Ha 2012:22736418}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.101348613G>A"	""	"pathogenic"	""
"0000642665"	"1"	"99"	"X"	"100603650"	"100603650"	"subst"	"0"	"00004"	"TIMM8A_000019"	"g.100603650C>G"	""	"{DB:DVD}, {PMID:Binder 2003:12805099}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.101348662C>G"	""	"pathogenic"	""
"0000693233"	"0"	"30"	"X"	"100608907"	"100608907"	"subst"	"0.00012867"	"01943"	"BTK_000959"	"g.100608907T>C"	""	""	""	"BTK(NM_000061.2):c.1701A>G (p.E567=), BTK(NM_001287344.1):c.1803A>G (p.E601=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000895835"	"0"	"90"	"X"	"100608201"	"100608201"	"subst"	"0"	"02329"	"BTK_000251"	"g.100608201A>G"	""	""	""	"BTK(NM_001287344.2):c.1991T>C (p.M664T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000951646"	"0"	"90"	"X"	"100608857"	"100608857"	"subst"	"0"	"02327"	"BTK_000240"	"g.100608857C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000970563"	"0"	"70"	"X"	"100608298"	"100608298"	"subst"	"0"	"02326"	"BTK_000491"	"g.100608298A>C"	""	""	""	"BTK(NM_001287344.1):c.1894T>G (p.Y632D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001006284"	"0"	"50"	"X"	"100608337"	"100608337"	"subst"	"1.11929E-5"	"02327"	"BTK_000907"	"g.100608337C>T"	""	""	""	"BTK(NM_001287344.1):c.1855G>A (p.V619I)"	"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 TIMM8A
## Count = 41
"{{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}}"
"0000252446"	"00021136"	"70"	"-4667"	"0"	"-4667"	"0"	"c.-4667T>C"	"r.(?)"	"p.(=)"	""
"0000269400"	"00021136"	"90"	"-5272"	"0"	"-5272"	"0"	"c.-5272C>T"	"r.(?)"	"p.(=)"	""
"0000269401"	"00021136"	"50"	"-5257"	"0"	"-5257"	"0"	"c.-5257G>C"	"r.(?)"	"p.(=)"	""
"0000269402"	"00021136"	"90"	"-5223"	"0"	"-5223"	"0"	"c.-5223C>A"	"r.(?)"	"p.(=)"	""
"0000269403"	"00021136"	"10"	"-4539"	"0"	"-4539"	"0"	"c.-4539C>T"	"r.(?)"	"p.(=)"	""
"0000272211"	"00021136"	"50"	"-4685"	"0"	"-4685"	"0"	"c.-4685G>A"	"r.(?)"	"p.(=)"	""
"0000272212"	"00021136"	"30"	"-4553"	"0"	"-4553"	"0"	"c.-4553A>G"	"r.(?)"	"p.(=)"	""
"0000309201"	"00021136"	"10"	"-6"	"0"	"-6"	"0"	"c.-6C>T"	"r.(?)"	"p.(=)"	""
"0000311854"	"00021136"	"30"	"-6"	"0"	"-6"	"0"	"c.-6C>T"	"r.(?)"	"p.(=)"	""
"0000313324"	"00021136"	"50"	"238"	"0"	"238"	"0"	"c.238C>G"	"r.(?)"	"p.(Arg80Gly)"	""
"0000336873"	"00021136"	"90"	"132"	"1"	"132"	"1"	"c.132+1G>A"	"r.spl?"	"p.?"	""
"0000343387"	"00021136"	"90"	"238"	"0"	"238"	"0"	"c.238C>T"	"r.(?)"	"p.(Arg80Ter)"	""
"0000344444"	"00021136"	"90"	"198"	"0"	"198"	"0"	"c.198C>G"	"r.(?)"	"p.(Cys66Trp)"	""
"0000350800"	"00021136"	"90"	"132"	"5"	"132"	"5"	"c.132+5G>A"	"r.spl?"	"p.?"	""
"0000403841"	"00021136"	"90"	"-6365"	"0"	"54804"	"0"	"c.-6365_*54510del"	"r.0"	"p.0"	"_1_2_"
"0000403842"	"00021136"	"90"	"-16634"	"0"	"131194"	"0"	"c.-16634_*130900del"	"r.0"	"p.0"	"_1_2_"
"0000403843"	"00021136"	"90"	"-35617"	"0"	"158533"	"0"	"c.-35617_*158239del"	"r.0"	"p.0"	"_1_2_"
"0000478177"	"00021136"	"90"	"133"	"-1"	"133"	"-1"	"c.133-1G>T"	"r.spl"	"p.?"	""
"0000572560"	"00021136"	"50"	"-1267"	"0"	"-1267"	"0"	"c.-1267A>G"	"r.(?)"	"p.(=)"	""
"0000572561"	"00021136"	"30"	"-5255"	"0"	"-5255"	"0"	"c.-5255A>G"	"r.(?)"	"p.(=)"	""
"0000618688"	"00021136"	"30"	"-5196"	"0"	"-5196"	"0"	"c.-5196T>C"	"r.(?)"	"p.(=)"	""
"0000624346"	"00021136"	"30"	"-11"	"0"	"-11"	"0"	"c.-11G>T"	"r.(?)"	"p.(=)"	""
"0000642652"	"00021136"	"99"	"238"	"0"	"238"	"0"	"c.238C>T"	"r.(?)"	"p.(Arg80*)"	"2"
"0000642653"	"00021136"	"99"	"198"	"0"	"198"	"0"	"c.198C>G"	"r.(?)"	"p.(Cys66Trp)"	"2"
"0000642654"	"00021136"	"99"	"148"	"0"	"157"	"0"	"c.148_157del"	"r.(?)"	"p.(Lys50Glnfs*12)"	"2"
"0000642655"	"00021136"	"99"	"133"	"-23"	"133"	"-23"	"c.133-23A>C"	"r.(=)"	"p.(=)"	"1i"
"0000642656"	"00021136"	"99"	"132"	"1"	"132"	"1"	"c.132+1G>A"	"r.spl?"	"p.?"	"1i"
"0000642657"	"00021136"	"99"	"132"	"1"	"132"	"1"	"c.132+1G>T"	"r.spl?"	"p.?"	"1i"
"0000642658"	"00021136"	"99"	"127"	"0"	"127"	"0"	"c.127del"	"r.(?)"	"p.(Cys43Valfs*22)"	"1"
"0000642659"	"00021136"	"99"	"116"	"0"	"116"	"0"	"c.116del"	"r.(?)"	"p.(Met39Argfs*26)"	"1"
"0000642660"	"00021136"	"99"	"112"	"0"	"112"	"0"	"c.112C>T"	"r.(?)"	"p.(Gln38*)"	"1"
"0000642661"	"00021136"	"99"	"100"	"0"	"100"	"0"	"c.100C>T"	"r.(?)"	"p.(Gln34*)"	"1"
"0000642662"	"00021136"	"99"	"73"	"0"	"73"	"0"	"c.73del"	"r.(?)"	"p.(Val25*)"	"1"
"0000642663"	"00021136"	"99"	"70"	"0"	"70"	"0"	"c.70G>T"	"r.(?)"	"p.(Glu24*)"	"1"
"0000642664"	"00021136"	"99"	"52"	"0"	"52"	"0"	"c.52C>T"	"r.(?)"	"p.(Gln18*)"	"1"
"0000642665"	"00021136"	"99"	"3"	"0"	"3"	"0"	"c.3G>C"	"r.(?)"	"p.(Met1?)"	"1"
"0000693233"	"00021136"	"30"	"-5255"	"0"	"-5255"	"0"	"c.-5255A>G"	"r.(?)"	"p.(=)"	""
"0000895835"	"00021136"	"90"	"-4549"	"0"	"-4549"	"0"	"c.-4549T>C"	"r.(?)"	"p.(=)"	""
"0000951646"	"00021136"	"90"	"-5205"	"0"	"-5205"	"0"	"c.-5205G>A"	"r.(?)"	"p.(=)"	""
"0000970563"	"00021136"	"70"	"-4646"	"0"	"-4646"	"0"	"c.-4646T>G"	"r.(?)"	"p.(=)"	""
"0001006284"	"00021136"	"50"	"-4685"	"0"	"-4685"	"0"	"c.-4685G>A"	"r.(?)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 18
"{{screeningid}}"	"{{variantid}}"
"0000180363"	"0000403841"
"0000180364"	"0000403842"
"0000180365"	"0000403843"
"0000235423"	"0000478177"
"0000286910"	"0000642652"
"0000286911"	"0000642653"
"0000286912"	"0000642654"
"0000286913"	"0000642655"
"0000286914"	"0000642656"
"0000286915"	"0000642657"
"0000286916"	"0000642658"
"0000286917"	"0000642659"
"0000286918"	"0000642660"
"0000286919"	"0000642661"
"0000286920"	"0000642662"
"0000286921"	"0000642663"
"0000286922"	"0000642664"
"0000286923"	"0000642665"