### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = DIABLO)
# 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}}"
"DIABLO"	"diablo, IAP-binding mitochondrial protein"	"12"	"q24.31"	"unknown"	"NG_029459.1"	"UD_130633436109"	""	"http://www.LOVD.nl/DIABLO"	""	"1"	"21528"	"56616"	"605219"	"1"	"1"	"1"	"1"	"Establishment 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"	"http://databases.lovd.nl/shared/refseq/DIABLO_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2016-04-30 16:43:07"	"00000"	"2026-01-19 14:39:03"


## Transcripts ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00024124"	"DIABLO"	"transcript variant 1"	"001"	"NM_019887.5"	""	"NP_063940.1"	""	""	""	"-818"	"1439"	"720"	"122712081"	"122692209"	"00006"	"2016-04-30 16:41:40"	""	""
"00025910"	"DIABLO"	"transcript variant 8 (removed from reference sequence) (removed from reference sequence) (removed from reference sequence)"	"000"	"NM_001371333.1"	""	"NP_001358262.1"	""	""	"MANE select"	"-38"	"1433"	"720"	"1"	"1"	"00006"	"2024-02-13 17:45:09"	""	""


## 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}}"
"00531"	"DFNB;ARNSHL"	"deafness, autosomal recessive, nonsyndromic (DFNB, autosomal recessive non syndromic hearing loss (ARNSHL))"	""	""	""	""	""	"00006"	"2014-09-21 11:25:16"	"00006"	"2015-12-08 23:59:30"
"03560"	"DFNA64"	"deafness, autosomal dominant, type 64 (DFNA-64)"	"AD"	"614152"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"05086"	"HL"	"hearing loss (HL)"	""	""	""	""	""	"00006"	"2015-10-23 11:41:05"	"00006"	"2015-10-23 11:43:00"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"DIABLO"	"03560"


## Individuals ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00059154"	""	""	""	"1"	""	"01551"	"{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}"	""	""	""	""	""	"0"	""	""	""	""
"00284915"	""	""	""	"1"	""	"00004"	"{PMID:Cheng 2011:21722859}"	""	""	""	""	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}"	"{{diseaseid}}"
"00059154"	"00531"
"00284915"	"05086"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00531, 03560, 05086
## Count = 1
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"
"0000218233"	"05086"	"00284915"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Hearing loss, progressive"


## Screenings ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000064761"	"00059154"	"1"	"00006"	"00006"	"2016-04-30 16:44:13"	""	""	"MAQ"	"DNA"	""	""
"0000286065"	"00284915"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000064761"	"DIABLO"
"0000064761"	"TPRN"
"0000286065"	"DIABLO"


## 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 = 15
"{{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}}"
"0000096183"	"1"	"30"	"12"	"122692927"	"122710561"	"dup"	"0"	"00006"	"DIABLO_000000"	"g.(122692927_122710561)dup"	""	"{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}"	""	""	"variant was not associated with phenotype\r\nVariant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000341105"	"0"	"50"	"12"	"122701415"	"122701415"	"subst"	"8.13193E-6"	"02327"	"DIABLO_000001"	"g.122701415G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.122216868G>C"	""	"VUS"	""
"0000546908"	"0"	"30"	"12"	"122685139"	"122685139"	"subst"	"0.00266391"	"01804"	"B3GNT4_000001"	"g.122685139A>G"	""	""	""	"LRRC43(NM_001098519.1):c.1552A>G (p.(Lys518Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.122200592A>G"	""	"likely benign"	""
"0000546909"	"0"	"30"	"12"	"122693045"	"122693045"	"subst"	"4.06359E-6"	"01943"	"B3GNT4_000002"	"g.122693045G>A"	""	""	""	"DIABLO(NM_001278304.1):c.444C>T (p.S148=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.122208498G>A"	""	"likely benign"	""
"0000613917"	"0"	"30"	"12"	"122710543"	"122710543"	"subst"	"0.000416368"	"01943"	"VPS33A_000002"	"g.122710543A>T"	""	""	""	"DIABLO(NM_019887.5):c.19T>A (p.W7R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.122225996A>T"	""	"likely benign"	""
"0000641807"	"1"	"99"	"12"	"122701355"	"122701355"	"subst"	"0"	"00004"	"DIABLO_000002"	"g.122701355G>A"	""	"{DB:DVD}, {PMID:Cheng 2011:21722859}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.122216808G>A"	""	"pathogenic"	""
"0000657008"	"0"	"30"	"12"	"122710554"	"122710554"	"subst"	"0.000773381"	"01943"	"VPS33A_000003"	"g.122710554G>C"	""	""	""	"DIABLO(NM_019887.5):c.8C>G (p.A3G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.122226007G>C"	""	"likely benign"	""
"0000679418"	"0"	"30"	"12"	"122702843"	"122702843"	"subst"	"0.000389968"	"01943"	"DIABLO_000003"	"g.122702843C>T"	""	""	""	"DIABLO(NM_001278304.1):c.126G>A (p.A42=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000723885"	"0"	"30"	"12"	"122693102"	"122693102"	"subst"	"0.000976642"	"01943"	"B3GNT4_000004"	"g.122693102G>A"	""	""	""	"DIABLO(NM_001278304.1):c.387C>T (p.T129=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000853291"	"0"	"50"	"12"	"122693075"	"122693075"	"subst"	"0"	"01943"	"B3GNT4_000005"	"g.122693075T>C"	""	""	""	"DIABLO(NM_001278304.1):c.414A>G (p.K138=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000853292"	"0"	"30"	"12"	"122702861"	"122702861"	"subst"	"8.12434E-6"	"01943"	"DIABLO_000004"	"g.122702861G>A"	""	""	""	"DIABLO(NM_001278304.1):c.108C>T (p.L36=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000853293"	"0"	"30"	"12"	"122710507"	"122710507"	"subst"	"8.67278E-5"	"01943"	"VPS33A_000004"	"g.122710507G>A"	""	""	""	"DIABLO(NM_019887.5):c.50+5C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000862883"	"0"	"30"	"12"	"122710546"	"122710546"	"subst"	"1.3434E-5"	"01943"	"VPS33A_000005"	"g.122710546T>G"	""	""	""	"DIABLO(NM_019887.5):c.16A>C (p.S6R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000966779"	"0"	"50"	"12"	"122693112"	"122693112"	"subst"	"8.15714E-6"	"02327"	"B3GNT4_000007"	"g.122693112G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001062849"	"0"	"50"	"12"	"122702945"	"122702945"	"subst"	"0"	"03779"	"DIABLO_000005"	"g.122702945C>A"	""	""	""	""	""	"Unknown"	""	"rs2547136265"	"0"	""	""	""	""	"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 DIABLO
## Count = 20
"{{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}}"
"0000096183"	"00024124"	"30"	"0"	"0"	"0"	"0"	"c.(?_1)_(*1-?)dup"	"r.(=)"	"p.(=)"	"_1_7_"
"0000341105"	"00024124"	"50"	"317"	"0"	"317"	"0"	"c.317C>G"	"r.(?)"	"p.(Ala106Gly)"	""
"0000546908"	"00024124"	"30"	"8509"	"0"	"8509"	"0"	"c.*7789T>C"	"r.(=)"	"p.(=)"	""
"0000546909"	"00024124"	"30"	"603"	"0"	"603"	"0"	"c.603C>T"	"r.(?)"	"p.(Ser201=)"	""
"0000613917"	"00024124"	"30"	"19"	"0"	"19"	"0"	"c.19T>A"	"r.(?)"	"p.(Trp7Arg)"	""
"0000641807"	"00024124"	"99"	"377"	"0"	"377"	"0"	"c.377C>T"	"r.(?)"	"p.(Ser126Leu)"	"5"
"0000657008"	"00024124"	"30"	"8"	"0"	"8"	"0"	"c.8C>G"	"r.(?)"	"p.(Ala3Gly)"	""
"0000679418"	"00024124"	"30"	"285"	"0"	"285"	"0"	"c.285G>A"	"r.(?)"	"p.(Ala95=)"	""
"0000723885"	"00024124"	"30"	"546"	"0"	"546"	"0"	"c.546C>T"	"r.(?)"	"p.(Thr182=)"	""
"0000853291"	"00025910"	"50"	"573"	"0"	"573"	"0"	"c.573A>G"	"r.(?)"	"p.(Lys191=)"	""
"0000853291"	"00024124"	"50"	"573"	"0"	"573"	"0"	"c.573A>G"	"r.(?)"	"p.(Lys191=)"	""
"0000853292"	"00025910"	"30"	"267"	"0"	"267"	"0"	"c.267C>T"	"r.(?)"	"p.(Leu89=)"	""
"0000853292"	"00024124"	"30"	"267"	"0"	"267"	"0"	"c.267C>T"	"r.(?)"	"p.(Leu89=)"	""
"0000853293"	"00025910"	"30"	"50"	"5"	"50"	"5"	"c.50+5C>T"	"r.spl?"	"p.?"	""
"0000853293"	"00024124"	"30"	"50"	"5"	"50"	"5"	"c.50+5C>T"	"r.spl?"	"p.?"	""
"0000862883"	"00025910"	"30"	"16"	"0"	"16"	"0"	"c.16A>C"	"r.(?)"	"p.(Ser6Arg)"	""
"0000862883"	"00024124"	"30"	"16"	"0"	"16"	"0"	"c.16A>C"	"r.(?)"	"p.(Ser6Arg)"	""
"0000966779"	"00025910"	"50"	"536"	"0"	"536"	"0"	"c.536C>G"	"r.(?)"	"p.(Ala179Gly)"	""
"0000966779"	"00024124"	"50"	"536"	"0"	"536"	"0"	"c.536C>G"	"r.(?)"	"p.(Ala179Gly)"	""
"0001062849"	"00025910"	"50"	"184"	"-1"	"184"	"-1"	"c.184-1G>T"	"r.(?)"	"p.(?)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{variantid}}"
"0000064761"	"0000096183"
"0000286065"	"0000641807"