### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = WDR96)
# 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}}"
"WDR96"	"WD repeat domain 96"	"10"	"q25.1"	"unknown"	"NC_000010.10"	"UD_132610951378"	""	"https://www.LOVD.nl/CFAP43"	""	"1"	"26684"	"80217"	"0"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">NOTE: gene name changed from WDR96 to CFAP43</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."	""	""	""	"1"	""	"<font color=\"#FF0000\">NOTE: gene name changed from WDR96 to CFAP43</font>"	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2019-02-13 22:33:51"	"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}}"
"00022808"	"WDR96"	"WD repeat domain 96"	"001"	"NM_025145.5"	""	"NP_079421.5"	""	""	""	"-116"	"5249"	"4998"	"105992120"	"105889646"	""	"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}}"
"05562"	"SPGF"	"spermatogenic failure (SPGF)"	""	""	""	""	""	"00006"	"2019-02-13 22:06:30"	""	""
"05567"	"SPGF19"	"spermatogenic failure, type 19 (SPGF-19)"	"AR"	"617592"	""	"autosomal recessive"	""	"00006"	"2019-02-13 22:57:31"	"00006"	"2021-12-10 21:51:32"
"06066"	"HYDNP1"	"Hydrocephalus, normal pressure, 1"	"AD"	"236690"	""	""	""	"00006"	"2021-12-10 23:20:41"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"WDR96"	"05567"
"WDR96"	"06066"


## Individuals ## Do not remove or alter this header ##
## Count = 12
"{{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}}"
"00225378"	""	""	""	"1"	""	"00006"	"{PMID:Coutton 2018:29449551}"	""	"M"	""	""	""	"0"	""	""	"Tunisia"	"29449551-PatCFAP43-1"
"00225379"	""	""	""	"1"	""	"00006"	"{PMID:Coutton 2018:29449551}"	""	"M"	""	""	""	"0"	""	""	"Tunisia"	"29449551-PatCFAP43-2"
"00225380"	""	""	""	"1"	""	"00006"	"{PMID:Coutton 2018:29449551}"	""	"M"	""	""	""	"0"	""	""	"Afghanistan"	"29449551-PatCFAP43-3"
"00225381"	""	""	""	"1"	""	"00006"	"{PMID:Coutton 2018:29449551}"	""	"M"	""	""	""	"0"	""	""	"Iran"	"29449551-PatCFAP43-4"
"00225382"	""	""	""	"1"	""	"00006"	"{PMID:Coutton 2018:29449551}"	""	"M"	""	""	""	"0"	""	""	"Algeria"	"29449551-PatCFAP43-5"
"00225383"	""	""	""	"1"	""	"00006"	"{PMID:Coutton 2018:29449551}"	""	"M"	""	""	""	"0"	""	""	"Algeria"	"29449551-PatCFAP43-6"
"00225384"	""	""	""	"1"	""	"00006"	"{PMID:Coutton 2018:29449551}"	""	"M"	""	""	""	"0"	""	""	"Tunisia"	"29449551-PatCFAP43-7"
"00225385"	""	""	""	"1"	""	"00006"	"{PMID:Coutton 2018:29449551}"	""	"M"	""	""	""	"0"	""	""	"Tunisia"	"29449551-PatCFAP43-8"
"00225386"	""	""	""	"1"	""	"00006"	"{PMID:Coutton 2018:29449551}"	""	"M"	""	""	""	"0"	""	""	"France"	"29449551-PatCFAP43-9"
"00225387"	""	""	""	"1"	""	"00006"	"{PMID:Coutton 2018:29449551}"	""	"M"	""	""	""	"0"	""	""	"Turkey"	"29449551-PatCFAP43-10"
"00225388"	""	""	""	"1"	""	"00006"	"{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}"	""	"M"	""	""	""	"0"	""	""	"Iran"	"30686508-PatCFAP43-11"
"00225389"	""	""	""	"1"	""	"00006"	"{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}"	""	"M"	""	""	""	"0"	""	""	"Tunisia"	"30686508-PatCFAP43-12"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 12
"{{individualid}}"	"{{diseaseid}}"
"00225378"	"05562"
"00225379"	"05562"
"00225380"	"05562"
"00225381"	"05562"
"00225382"	"05562"
"00225383"	"05562"
"00225384"	"05562"
"00225385"	"05562"
"00225386"	"05562"
"00225387"	"05562"
"00225388"	"05562"
"00225389"	"05562"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 05562, 05567, 06066
## Count = 12
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"
"0000170495"	"05562"	"00225378"	"00006"	"Familial, autosomal recessive"	""	"male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)"	""	""	""	""	""	""	""	"male fertility"
"0000170496"	"05562"	"00225379"	"00006"	"Familial, autosomal recessive"	""	"male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)"	""	""	""	""	""	""	""	"male fertility"
"0000170497"	"05562"	"00225380"	"00006"	"Familial, autosomal recessive"	""	"male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)"	""	""	""	""	""	""	""	"male fertility"
"0000170498"	"05562"	"00225381"	"00006"	"Familial, autosomal recessive"	""	"male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)"	""	""	""	""	""	""	""	"male fertility"
"0000170499"	"05562"	"00225382"	"00006"	"Familial, autosomal recessive"	""	"male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)"	""	""	""	""	""	""	""	"male fertility"
"0000170500"	"05562"	"00225383"	"00006"	"Familial, autosomal recessive"	""	"male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)"	""	""	""	""	""	""	""	"male fertility"
"0000170501"	"05562"	"00225384"	"00006"	"Familial, autosomal recessive"	""	"male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)"	""	""	""	""	""	""	""	"male fertility"
"0000170502"	"05562"	"00225385"	"00006"	"Familial, autosomal recessive"	""	"male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)"	""	""	""	""	""	""	""	"male fertility"
"0000170503"	"05562"	"00225386"	"00006"	"Familial, autosomal recessive"	""	"male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)"	""	""	""	""	""	""	""	"male fertility"
"0000170504"	"05562"	"00225387"	"00006"	"Familial, autosomal recessive"	""	"male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)"	""	""	""	""	""	""	""	"male fertility"
"0000170505"	"05562"	"00225388"	"00006"	"Familial, autosomal recessive"	""	"male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)"	""	""	""	""	""	""	""	"male fertility"
"0000170506"	"05562"	"00225389"	"00006"	"Familial, autosomal recessive"	""	"male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)"	""	""	""	""	""	""	""	"male fertility"


## Screenings ## Do not remove or alter this header ##
## Count = 12
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000226457"	"00225378"	"1"	"00006"	"00006"	"2019-02-15 16:01:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000226458"	"00225379"	"1"	"00006"	"00006"	"2019-02-15 16:01:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000226459"	"00225380"	"1"	"00006"	"00006"	"2019-02-15 16:01:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000226460"	"00225381"	"1"	"00006"	"00006"	"2019-02-15 16:01:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000226461"	"00225382"	"1"	"00006"	"00006"	"2019-02-15 16:01:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000226462"	"00225383"	"1"	"00006"	"00006"	"2019-02-15 16:01:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000226463"	"00225384"	"1"	"00006"	"00006"	"2019-02-15 16:01:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000226464"	"00225385"	"1"	"00006"	"00006"	"2019-02-15 16:01:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000226465"	"00225386"	"1"	"00006"	"00006"	"2019-02-15 16:01:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000226466"	"00225387"	"1"	"00006"	"00006"	"2019-02-15 16:01:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000226467"	"00225388"	"1"	"00006"	"00006"	"2019-02-15 16:01:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000226468"	"00225389"	"1"	"00006"	"00006"	"2019-02-15 16:01:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 12
"{{screeningid}}"	"{{geneid}}"
"0000226457"	"WDR96"
"0000226458"	"WDR96"
"0000226459"	"WDR96"
"0000226460"	"WDR96"
"0000226461"	"WDR96"
"0000226462"	"WDR96"
"0000226463"	"WDR96"
"0000226464"	"WDR96"
"0000226465"	"WDR96"
"0000226466"	"WDR96"
"0000226467"	"WDR96"
"0000226468"	"WDR96"


## 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 = 23
"{{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}}"
"0000458702"	"3"	"90"	"10"	"105912486"	"105912486"	"subst"	"0"	"00006"	"CYP2C9_001038"	"g.105912486T>G"	"2/78 cases MMAF"	"{PMID:Coutton 2018:29449551}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.104152728T>G"	""	"pathogenic (recessive)"	""
"0000458703"	"3"	"90"	"10"	"105912486"	"105912486"	"subst"	"0"	"00006"	"CYP2C9_001038"	"g.105912486T>G"	"2/78 cases MMAF"	"{PMID:Coutton 2018:29449551}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.104152728T>G"	""	"pathogenic (recessive)"	""
"0000458704"	"3"	"90"	"10"	"105956666"	"105956667"	"del"	"0"	"00006"	"CYP2C9_001038"	"g.105956666_105956667del"	"2/78 cases MMAF"	"{PMID:Coutton 2018:29449551}"	""	"1240_1241delGT"	""	"Germline"	""	""	"0"	""	""	"g.104196908_104196909del"	""	"pathogenic (recessive)"	""
"0000458705"	"3"	"90"	"10"	"105956666"	"105956667"	"del"	"0"	"00006"	"CYP2C9_001038"	"g.105956666_105956667del"	"2/78 cases MMAF"	"{PMID:Coutton 2018:29449551}"	""	"1240_1241delGT"	""	"Germline"	""	""	"0"	""	""	"g.104196908_104196909del"	""	"pathogenic (recessive)"	""
"0000458706"	"3"	"90"	"10"	"105928535"	"105928535"	"subst"	"0.000138133"	"00006"	"WDR96_000001"	"g.105928535C>T"	"1/78 cases MMAF"	"{PMID:Coutton 2018:29449551}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.104168777C>T"	""	"pathogenic (recessive)"	""
"0000458707"	"3"	"90"	"10"	"105928513"	"105928513"	"subst"	"4.06339E-6"	"00006"	"WDR96_000002"	"g.105928513G>A"	"1/78 cases MMAF"	"{PMID:Coutton 2018:29449551}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.104168755G>A"	""	"pathogenic (recessive)"	""
"0000458708"	"3"	"90"	"10"	"105905297"	"105905297"	"del"	"0"	"00006"	"WDR96_000003"	"g.105905297del"	"1/78 cases MMAF"	"{PMID:Coutton 2018:29449551}"	""	"3882delA"	""	"Germline"	""	""	"0"	""	""	"g.104145539del"	""	"pathogenic (recessive)"	""
"0000458709"	"3"	"90"	"10"	"105921781"	"105921781"	"subst"	"3.66844E-5"	"00006"	"WDR96_000004"	"g.105921781G>A"	"1/78 cases MMAF"	"{PMID:Coutton 2018:29449551}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.104162023G>A"	""	"pathogenic (recessive)"	""
"0000458710"	"1"	"90"	"10"	"105953765"	"105953765"	"dup"	"0"	"00006"	"WDR96_000005"	"g.105953765dup"	"1/78 cases MMAF"	"{PMID:Coutton 2018:29449551}"	""	"1302dupT"	""	"Germline"	""	""	"0"	""	""	"g.104194007dup"	""	"pathogenic (recessive)"	""
"0000458711"	"2"	"90"	"10"	"105963485"	"105963485"	"subst"	"7.7872E-5"	"00006"	"WDR96_000006"	"g.105963485A>G"	"1/78 cases MMAF"	"{PMID:Coutton 2018:29449551}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.104203727A>G"	""	"pathogenic (recessive)"	""
"0000458712"	"3"	"90"	"10"	"105944769"	"105944769"	"subst"	"0"	"00006"	"WDR96_000007"	"g.105944769C>T"	"1/78 cases MMAF"	"{PMID:Coutton 2018:29449551}"	""	"2141+5G>A"	""	"Germline"	""	""	"0"	""	""	"g.104185011C>T"	""	"pathogenic (recessive)"	""
"0000458713"	"3"	"90"	"10"	"105921761"	"105921761"	"del"	"0"	"00006"	"WDR96_000008"	"g.105921761del"	"1/167 cases MMAF"	"{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}"	""	"3374delT"	""	"Germline"	""	""	"0"	""	""	"g.104162003del"	""	"pathogenic (recessive)"	""
"0000458714"	"1"	"90"	"10"	"105990547"	"105990548"	"del"	"0"	"00006"	"WDR96_000009"	"g.105990547_105990548del"	"1/167 cases MMAF"	"{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}"	""	"120_121delTT"	""	"Germline"	""	""	"0"	""	""	"g.104230789_104230790del"	""	"pathogenic (recessive)"	""
"0000458715"	"2"	"90"	"10"	"105990550"	"105990553"	"del"	"0"	"00006"	"WDR96_000010"	"g.105990550_105990553del"	"1/167 cases MMAF"	"{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}"	""	"114_117delCACC"	""	"Germline"	""	""	"0"	""	""	"g.104230792_104230795del"	""	"pathogenic (recessive)"	""
"0000539017"	"0"	"70"	"10"	"105990602"	"105990602"	"subst"	"0"	"01943"	"WDR96_000011"	"g.105990602C>A"	""	""	""	"CFAP43(NM_025145.6):c.66-1G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.104230844C>A"	""	"likely pathogenic"	""
"0000722663"	"0"	"50"	"10"	"105893436"	"105893436"	"subst"	"0.000239791"	"01943"	"WDR96_000012"	"g.105893436T>G"	""	""	""	"CFAP43(NM_025145.6):c.4538A>C (p.D1513A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000888981"	"0"	"90"	"10"	"105912483"	"105912483"	"subst"	"4.21056E-6"	"02329"	"WDR96_000013"	"g.105912483G>T"	""	""	""	"CFAP43(NM_025145.7):c.3542C>A (p.(Ser1181*), p.S1181*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000888982"	"0"	"90"	"10"	"105945839"	"105945839"	"subst"	"0"	"02329"	"WDR96_000014"	"g.105945839G>A"	""	""	""	"CFAP43(NM_025145.7):c.1903C>T (p.Q635*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000965578"	"0"	"90"	"10"	"105928535"	"105928535"	"subst"	"0.000138133"	"02327"	"WDR96_000001"	"g.105928535C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000978882"	"0"	"50"	"10"	"105893539"	"105893539"	"subst"	"1.2655E-5"	"01804"	"WDR96_000015"	"g.105893539G>A"	""	""	""	"CFAP43(NM_025145.7):c.4435C>T (p.(Gln1479Ter))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037703"	"0"	"50"	"10"	"105912483"	"105912483"	"subst"	"4.21056E-6"	"01804"	"WDR96_000013"	"g.105912483G>T"	""	""	""	"CFAP43(NM_025145.7):c.3542C>A (p.(Ser1181*), p.S1181*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037704"	"0"	"30"	"10"	"105926384"	"105926384"	"subst"	"7.72006E-5"	"01804"	"WDR96_000016"	"g.105926384C>T"	""	""	""	"CFAP43(NM_025145.7):c.2901G>A (p.(Lys967=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001037705"	"0"	"50"	"10"	"105926425"	"105926425"	"subst"	"0.000154801"	"01804"	"WDR96_000017"	"g.105926425G>A"	""	""	""	"CFAP43(NM_025145.7):c.2860C>T (p.(Arg954Cys))"	"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 WDR96
## Count = 23
"{{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}}"
"0000458702"	"00022808"	"90"	"3541"	"-2"	"3541"	"-2"	"c.3541-2A>C"	"r.spl"	"p.(Ser1181Lysfs*4)"	""
"0000458703"	"00022808"	"90"	"3541"	"-2"	"3541"	"-2"	"c.3541-2A>C"	"r.spl"	"p.(.Ser1181Lysfs*4)"	""
"0000458704"	"00022808"	"90"	"1240"	"0"	"1241"	"0"	"c.1240_1241del"	"r.(?)"	"p.(Val414Leufs*46)"	""
"0000458705"	"00022808"	"90"	"1240"	"0"	"1241"	"0"	"c.1240_1241del"	"r.(?)"	"p.(Val414Leufs*46)"	""
"0000458706"	"00022808"	"90"	"2658"	"0"	"2658"	"0"	"c.2658G>A"	"r.(?)"	"p.(Trp886*)"	""
"0000458707"	"00022808"	"90"	"2680"	"0"	"2680"	"0"	"c.2680C>T"	"r.(?)"	"p.(Arg894*)"	""
"0000458708"	"00022808"	"90"	"3882"	"0"	"3882"	"0"	"c.3882del"	"r.(?)"	"p.(Glu1294Aspfs*47)"	""
"0000458709"	"00022808"	"90"	"3352"	"0"	"3352"	"0"	"c.3352C>T"	"r.(?)"	"p.(Arg1118*)"	""
"0000458710"	"00022808"	"90"	"1302"	"0"	"1302"	"0"	"c.1302dup"	"r.(?)"	"p.(Leu435Serfs*26)"	""
"0000458711"	"00022808"	"90"	"1040"	"0"	"1040"	"0"	"c.1040T>C"	"r.(?)"	"p.(Val347Ala)"	""
"0000458712"	"00022808"	"90"	"2141"	"5"	"2141"	"5"	"c.2141+5G>A"	"r.spl"	"p.(Lys714Val*11)"	""
"0000458713"	"00022808"	"90"	"3374"	"0"	"3374"	"0"	"c.3374del"	"r.(?)"	"p.(Gly1125Glufs*12)"	""
"0000458714"	"00022808"	"90"	"120"	"0"	"121"	"0"	"c.120_121del"	"r.(?)"	"p.(Ile40Metfs*12)"	""
"0000458715"	"00022808"	"90"	"114"	"0"	"117"	"0"	"c.114_117del"	"r.(?)"	"p.(Asn38Lysfs*10)"	""
"0000539017"	"00022808"	"70"	"66"	"-1"	"66"	"-1"	"c.66-1G>T"	"r.spl?"	"p.?"	""
"0000722663"	"00022808"	"50"	"4538"	"0"	"4538"	"0"	"c.4538A>C"	"r.(?)"	"p.(Asp1513Ala)"	""
"0000888981"	"00022808"	"90"	"3542"	"0"	"3542"	"0"	"c.3542C>A"	"r.(?)"	"p.(Ser1181*)"	""
"0000888982"	"00022808"	"90"	"1903"	"0"	"1903"	"0"	"c.1903C>T"	"r.(?)"	"p.(Gln635*)"	""
"0000965578"	"00022808"	"90"	"2658"	"0"	"2658"	"0"	"c.2658G>A"	"r.(?)"	"p.(Trp886*)"	""
"0000978882"	"00022808"	"50"	"4435"	"0"	"4435"	"0"	"c.4435C>T"	"r.(?)"	"p.(Gln1479*)"	""
"0001037703"	"00022808"	"50"	"3542"	"0"	"3542"	"0"	"c.3542C>A"	"r.(?)"	"p.(Ser1181*)"	""
"0001037704"	"00022808"	"30"	"2901"	"0"	"2901"	"0"	"c.2901G>A"	"r.(?)"	"p.(=)"	""
"0001037705"	"00022808"	"50"	"2860"	"0"	"2860"	"0"	"c.2860C>T"	"r.(?)"	"p.(Arg954Cys)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 14
"{{screeningid}}"	"{{variantid}}"
"0000226457"	"0000458702"
"0000226458"	"0000458703"
"0000226459"	"0000458704"
"0000226460"	"0000458705"
"0000226461"	"0000458706"
"0000226462"	"0000458707"
"0000226463"	"0000458708"
"0000226464"	"0000458709"
"0000226465"	"0000458710"
"0000226465"	"0000458711"
"0000226466"	"0000458712"
"0000226467"	"0000458713"
"0000226468"	"0000458714"
"0000226468"	"0000458715"