### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ZAN)
# 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}}"
"ZAN"	"zonadhesin"	"7"	"q22.1"	"unknown"	"NG_029544.2"	"UD_132084554869"	""	"http://www.LOVD.nl/ZAN"	""	"1"	"12857"	"7455"	"602372"	"1"	"1"	"1"	"1"	""	""	"g"	"http://databases.lovd.nl/shared/refseq/ZAN_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2015-02-13 12:30:15"	"00000"	"2025-11-01 13:22:20"


## 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}}"
"00022999"	"ZAN"	"transcript variant 3"	"002"	"NM_003386.1"	""	"NP_003377.1"	""	""	""	"-165"	"8503"	"8438"	"100331249"	"100395419"	""	"0000-00-00 00:00:00"	""	""


## 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"
"04063"	"POF8"	"ovarian failure, premature, type 8 (POF-8)"	"AR"	"615723"	""	""	""	"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 = 0


## Individuals ## Do not remove or alter this header ##
## Count = 5
"{{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}}"
"00029856"	""	""	""	"5"	""	"00006"	"{PMID:Caburet 2014:24597867}, {DOI:Caburet 2014:10.1056/NEJMoa1309635}, {PMID:Caburet 2012:22428046}"	"5-generation family, 5 affecteds (5F), unaffected heterozygous carriers"	""	"yes"	"Israel"	""	"0"	""	""	"Palestinian"	""
"00050181"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"proband"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00050247"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"uninherited diplotypes"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00050272"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"uninherited diplotypes"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00050309"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"uninherited diplotypes"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{individualid}}"	"{{diseaseid}}"
"00029856"	"04063"
"00050181"	"00198"
"00050247"	"00198"
"00050272"	"00198"
"00050309"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 04063
## 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}}"
"0000025784"	"04063"	"00029856"	"00006"	"Familial, autosomal recessive"	""	"see paper"	""	""	""	""	""	""	""	""	""	""	""
"0000036793"	"00198"	"00050181"	"00006"	"Unknown"	""	"severe undiagnosed developmental disorders"	""	""	""	""	""	""	""	""	""	""	""
"0000036859"	"00198"	"00050247"	"00006"	"Unknown"	""	"severe undiagnosed developmental disorders"	""	""	""	""	""	""	""	""	""	""	""
"0000036884"	"00198"	"00050272"	"00006"	"Unknown"	""	"severe undiagnosed developmental disorders"	""	""	""	""	""	""	""	""	""	""	""
"0000036921"	"00198"	"00050309"	"00006"	"Unknown"	""	"severe undiagnosed developmental disorders"	""	""	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 5
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000029922"	"00029856"	"1"	"00006"	"00006"	"2015-02-13 12:02:16"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000050126"	"00050181"	"1"	"00006"	"00006"	"2015-09-27 13:26:52"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050192"	"00050247"	"1"	"00006"	"00006"	"2015-09-27 13:26:52"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050217"	"00050272"	"1"	"00006"	"00006"	"2015-09-27 13:26:52"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050254"	"00050309"	"1"	"00006"	"00006"	"2015-09-27 13:26:52"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}"	"{{geneid}}"
"0000029922"	"STAG3"
"0000050126"	"ZAN"
"0000050192"	"ZAN"
"0000050217"	"ZAN"
"0000050254"	"ZAN"


## 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 = 21
"{{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}}"
"0000055995"	"3"	"50"	"7"	"100371475"	"100371476"	"ins"	"0"	"00006"	"ZAN_000001"	"g.100371475_100371476insG"	""	"{PMID:Caburet 2014:24597867}, {DOI:Caburet 2014:10.1056/NEJMoa1309635}"	""	"100371476->G"	"not associated with phenotype"	"Germline"	"no"	""	"0"	""	""	"g.100773852_100773853insG"	""	"VUS"	""
"0000079078"	"3"	"90"	"7"	"100389677"	"100389677"	"subst"	"0.0137645"	"00006"	"ZAN_000003"	"g.100389677C>T"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"association variant/phenotype uncertain\r\nVariant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000079144"	"3"	"90"	"7"	"100346094"	"100346094"	"subst"	"0.0274747"	"00006"	"ZAN_000002"	"g.100346094G>A"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"association variant/phenotype uncertain"	"Germline"	""	""	"0"	""	""	"g.100748471G>A"	""	"pathogenic"	""
"0000079169"	"3"	"90"	"7"	"100346094"	"100346094"	"subst"	"0.0274747"	"00006"	"ZAN_000002"	"g.100346094G>A"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"association variant/phenotype uncertain"	"Germline"	""	""	"0"	""	""	"g.100748471G>A"	""	"pathogenic"	""
"0000079206"	"3"	"90"	"7"	"100346094"	"100346094"	"subst"	"0.0274747"	"00006"	"ZAN_000002"	"g.100346094G>A"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"association variant/phenotype uncertain"	"Germline"	""	""	"0"	""	""	"g.100748471G>A"	""	"pathogenic"	""
"0000320094"	"0"	"10"	"7"	"100365542"	"100365542"	"subst"	"0.00199888"	"01943"	"ZAN_000005"	"g.100365542C>A"	""	""	""	"ZAN(NM_003386.2):c.4949C>A (p.T1650K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100767919C>A"	""	"benign"	""
"0000331747"	"0"	"50"	"7"	"100334145"	"100334145"	"subst"	"0.0053397"	"01804"	"ZAN_000004"	"g.100334145C>T"	""	""	""	"ZAN(NM_003386.1):c.146C>T (p.(Pro49Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100736522C>T"	""	"VUS"	""
"0000530060"	"0"	"30"	"7"	"100349536"	"100349536"	"subst"	"2.03439E-5"	"01943"	"ZAN_000007"	"g.100349536A>G"	""	""	""	"ZAN(NM_003386.2):c.1808A>G (p.E603G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100751913A>G"	""	"likely benign"	""
"0000530062"	"0"	"50"	"7"	"100358158"	"100358158"	"subst"	"0.000325486"	"01804"	"ZAN_000009"	"g.100358158A>G"	""	""	""	"ZAN(NM_003386.1):c.3841A>G (p.(Ser1281Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100760535A>G"	""	"VUS"	""
"0000530063"	"0"	"50"	"7"	"100365473"	"100365473"	"subst"	"0"	"01943"	"ZAN_000010"	"g.100365473C>T"	""	""	""	"ZAN(NM_003386.2):c.4880C>T (p.A1627V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100767850C>T"	""	"VUS"	""
"0000530064"	"0"	"50"	"7"	"100366248"	"100366250"	"del"	"0"	"01804"	"ZAN_000011"	"g.100366248_100366250del"	""	""	""	"ZAN(NM_003386.1):c.5048_5050del (p.(Asn1685del))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100768625_100768627del"	""	"VUS"	""
"0000851340"	"0"	"30"	"7"	"100355891"	"100355891"	"subst"	"0"	"01943"	"ZAN_000012"	"g.100355891G>C"	""	""	""	"ZAN(NM_003386.2):c.3376G>C (p.E1126Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000851341"	"0"	"30"	"7"	"100382323"	"100382323"	"subst"	"1.21876E-5"	"01943"	"ZAN_000013"	"g.100382323G>A"	""	""	""	"ZAN(NM_003386.2):c.6701G>A (p.R2234Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000977420"	"0"	"30"	"7"	"100349566"	"100349566"	"subst"	"3.30147E-5"	"01804"	"ZAN_000014"	"g.100349566A>C"	""	""	""	"ZAN(NM_003386.3):c.1838A>C (p.(Asn613Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000977421"	"0"	"30"	"7"	"100349881"	"100349881"	"subst"	"0"	"01804"	"ZAN_000015"	"g.100349881C>G"	""	""	""	"ZAN(NM_003386.3):c.2153C>G (p.(Thr718Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000977422"	"0"	"30"	"7"	"100364182"	"100364182"	"subst"	"0.00191279"	"01804"	"ZAN_000016"	"g.100364182A>G"	""	""	""	"ZAN(NM_003386.3):c.4505A>G (p.(Glu1502Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000977423"	"0"	"50"	"7"	"100364789"	"100364789"	"subst"	"9.74896E-5"	"01804"	"ZAN_000017"	"g.100364789G>T"	""	""	""	"ZAN(NM_003386.3):c.4769G>T (p.(Arg1590Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000996029"	"0"	"30"	"7"	"100361491"	"100361491"	"subst"	"2.84296E-5"	"01804"	"ZAN_000018"	"g.100361491C>T"	""	""	""	"ZAN(NM_003386.1):c.4049C>T (p.(Ser1350Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001035992"	"0"	"30"	"7"	"100350520"	"100350520"	"subst"	"0"	"01804"	"ZAN_000019"	"g.100350520C>T"	""	""	""	"ZAN(NM_003386.3):c.2792C>T (p.(Thr931Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001052763"	"0"	"30"	"7"	"100373458"	"100373458"	"subst"	"5.33723E-5"	"01804"	"ZAN_000020"	"g.100373458G>A"	""	""	""	"ZAN(NM_003386.3):c.6192+3G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001052764"	"0"	"30"	"7"	"100383733"	"100383733"	"subst"	"5.28095E-5"	"01804"	"ZAN_000021"	"g.100383733G>A"	""	""	""	"ZAN(NM_003386.3):c.6949G>A (p.(Asp2317Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""


## 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 ZAN
## Count = 21
"{{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}}"
"0000055995"	"00022999"	"50"	"5767"	"0"	"5768"	"0"	"c.5767_5768delinsGT"	"r.(?)"	"p.(Cys1923Val)"	"31"
"0000079078"	"00022999"	"00"	"7618"	"0"	"7618"	"0"	"c.7618C>T"	"r.?"	"p.?"	""
"0000079144"	"00022999"	"00"	"1249"	"1"	"1249"	"1"	"c.1249+1G>A"	"r.spl?"	"p.?"	""
"0000079169"	"00022999"	"00"	"1249"	"1"	"1249"	"1"	"c.1249+1G>A"	"r.spl?"	"p.?"	""
"0000079206"	"00022999"	"00"	"1249"	"1"	"1249"	"1"	"c.1249+1G>A"	"r.spl?"	"p.?"	""
"0000320094"	"00022999"	"10"	"4949"	"0"	"4949"	"0"	"c.4949C>A"	"r.(?)"	"p.(Thr1650Lys)"	""
"0000331747"	"00022999"	"50"	"146"	"0"	"146"	"0"	"c.146C>T"	"r.(?)"	"p.(Pro49Leu)"	""
"0000530060"	"00022999"	"30"	"1808"	"0"	"1808"	"0"	"c.1808A>G"	"r.(?)"	"p.(Glu603Gly)"	""
"0000530062"	"00022999"	"50"	"3841"	"0"	"3841"	"0"	"c.3841A>G"	"r.(?)"	"p.(Ser1281Gly)"	""
"0000530063"	"00022999"	"50"	"4880"	"0"	"4880"	"0"	"c.4880C>T"	"r.(?)"	"p.(Ala1627Val)"	""
"0000530064"	"00022999"	"50"	"5057"	"0"	"5059"	"0"	"c.5057_5059del"	"r.(?)"	"p.(Asn1686del)"	""
"0000851340"	"00022999"	"30"	"3376"	"0"	"3376"	"0"	"c.3376G>C"	"r.(?)"	"p.(Glu1126Gln)"	""
"0000851341"	"00022999"	"30"	"6701"	"0"	"6701"	"0"	"c.6701G>A"	"r.(?)"	"p.(Arg2234Gln)"	""
"0000977420"	"00022999"	"30"	"1838"	"0"	"1838"	"0"	"c.1838A>C"	"r.(?)"	"p.?"	""
"0000977421"	"00022999"	"30"	"2153"	"0"	"2153"	"0"	"c.2153C>G"	"r.(?)"	"p.?"	""
"0000977422"	"00022999"	"30"	"4505"	"0"	"4505"	"0"	"c.4505A>G"	"r.(?)"	"p.?"	""
"0000977423"	"00022999"	"50"	"4769"	"0"	"4769"	"0"	"c.4769G>T"	"r.(?)"	"p.?"	""
"0000996029"	"00022999"	"30"	"4049"	"0"	"4049"	"0"	"c.4049C>T"	"r.(?)"	"p.?"	""
"0001035992"	"00022999"	"30"	"2792"	"0"	"2792"	"0"	"c.2792C>T"	"r.(?)"	"p.?"	""
"0001052763"	"00022999"	"30"	"6191"	"3"	"6191"	"3"	"c.6191+3G>A"	"r.spl?"	"p.?"	""
"0001052764"	"00022999"	"30"	"6948"	"0"	"6948"	"0"	"c.6948G>A"	"r.(?)"	"p.?"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}"	"{{variantid}}"
"0000029922"	"0000055995"
"0000050126"	"0000079078"
"0000050192"	"0000079144"
"0000050217"	"0000079169"
"0000050254"	"0000079206"