### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = BFSP1)
# 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}}"
"BFSP1"	"beaded filament structural protein 1, filensin"	"20"	"p12.1"	"unknown"	"NC_000020.10"	"UD_132118423338"	""	"https://www.LOVD.nl/BFSP1"	""	"1"	"1040"	"631"	"603307"	"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 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/BFSP1_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00001"	"2010-03-01 00:00:00"	"00006"	"2023-11-11 21:20:13"	"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}}"
"00025578"	"BFSP1"	"transcript variant 1"	"005"	"NM_001195.3"	""	"NP_001186.1"	""	""	""	"-39"	"2167"	"1998"	"17512013"	"17474550"	"00006"	"2020-11-11 19:56:37"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 5
"{{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"
"00296"	"CTRCT"	"cataract (CTRCT)"	""	""	""	""	""	"00006"	"2014-01-16 08:42:13"	"00006"	"2015-03-07 14:30:33"
"00356"	"MCOP"	"microphthalmia (MCOP)"	""	""	""	""	""	"00006"	"2014-03-14 18:41:31"	"00006"	"2015-12-07 07:11:25"
"03026"	"CTRCT33"	"cataract, type 33 (CTRCT-33)"	"AD;AR"	"611391"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"BFSP1"	"00296"
"BFSP1"	"03026"


## Individuals ## Do not remove or alter this header ##
## Count = 14
"{{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}}"
"00060206"	""	""	""	"2"	""	"00245"	"{PMID:Prokudin 2014:24281366}"	"2-generation family, affected sister/brother"	""	""	"Australia"	""	"0"	""	""	""	"Fam9PatII1/2"
"00060207"	""	""	""	"1"	""	"00245"	"{PMID:Prokudin 2014:24281366}"	"2-generation family, 1 affected"	"M"	""	"Australia"	""	"0"	""	""	"India"	"Fam11PatII1"
"00292872"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00392270"	""	""	""	"1"	""	"00000"	"{PMID:Bell 2021:33494148}"	""	"M"	"no"	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"23"
"00392297"	""	""	""	"1"	""	"00000"	"{PMID:Bell 2021:33494148}"	""	"M"	"no"	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"23"
"00394356"	""	""	""	"1"	""	"00000"	"{PMID:Thorsteinsson 2021:33851411}"	""	"?"	""	"Iceland"	""	"0"	""	""	""	"AgS1"
"00434041"	""	""	""	"8"	""	"00006"	"{PMID:Zhai 2017:28450710}"	"5-generation family, 8 affected (4F, 4M)"	"M"	""	"China"	""	"0"	""	""	""	"Fam19"
"00434079"	""	""	""	"1"	""	"00006"	"{PMID:Li 2016:27307692}"	""	""	""	"China"	""	"0"	""	""	""	"Pat50"
"00434129"	""	""	""	"2"	""	"00006"	"{PMID:Li 2019:31842807}"	"2-generation family, affected mother/son"	"M"	""	"China"	""	"0"	""	""	""	"Fam1PatII1"
"00434131"	""	""	""	"5"	""	"00006"	"{PMID:Li 2019:31842807}"	"4-generation family, 5 affected (5F)"	"F"	""	"China"	""	"0"	""	""	""	"Fam3PatIV1"
"00434132"	""	""	""	"4"	""	"00006"	"{PMID:Li 2019:31842807}"	"4-generation family, 4 affected (2F, 2M)"	"F"	""	"China"	""	"0"	""	""	""	"Fam4PatIV1"
"00441767"	""	""	""	"15"	""	"00006"	"{PMID:Ramachandran 2007:17225135}"	"8-generation family, 15 affected (9F, 6M)"	"F;M"	"yes"	"India"	""	"0"	""	""	""	"Fam30023"
"00444929"	""	""	""	"2"	""	"00006"	"{PMID:Ma 2016:26694549}"	"2-generation family, 2 affected brothers, unaffected parents"	"M"	"yes"	"Australia"	""	"0"	""	""	""	"Fam46PatII2"
"00444987"	""	""	""	"1"	""	"00006"	"{PMID:Reis 2013:23508780}"	""	""	""	"United States"	""	"0"	""	""	""	"Pat1"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 14
"{{individualid}}"	"{{diseaseid}}"
"00060206"	"00356"
"00060207"	"00356"
"00292872"	"00198"
"00392270"	"04214"
"00392297"	"04214"
"00394356"	"04214"
"00434041"	"00296"
"00434079"	"00296"
"00434129"	"00296"
"00434131"	"00296"
"00434132"	"00296"
"00441767"	"00296"
"00444929"	"00296"
"00444987"	"00296"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00296, 00356, 03026, 04214
## Count = 13
"{{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}}"
"0000046696"	"00356"	"00060206"	"00245"	"Familial, autosomal dominant"	""	"coloboma, iris/fundal; microphthalmia"	""	""	""	""	""	""	""	""	""	""	""
"0000046697"	"00356"	"00060207"	"00245"	"Familial, autosomal dominant"	""	"colobomas, iris/fundal; microphthalmia"	""	""	""	""	""	""	""	""	""	""	""
"0000285548"	"04214"	"00392270"	"00000"	"Familial, autosomal dominant"	"46y"	"pseudophakia high myopia"	""	"2y"	""	""	""	""	""	""	"Cataract 33, multiple types"	""	""
"0000285573"	"04214"	"00392297"	"00000"	"Familial, autosomal dominant"	"14y"	"congenital cataract"	""	"4y4m"	""	""	""	""	""	""	"Cataract 33, multiple types"	""	""
"0000287560"	"04214"	"00394356"	"00000"	"Familial, autosomal dominant"	""	"Increased pressure on optic nerve, electroretinogram consistent with Alstrom syndrome"	""	""	""	""	""	""	""	""	"Alagille syndrome"	""	""
"0000324420"	"00296"	"00434041"	"00006"	"Familial, autosomal dominant"	"23y"	"lamellar, punctate cataract, progressive"	""	""	""	""	""	""	""	""	"CTRCT33"	"cataract"	""
"0000324455"	"00296"	"00434079"	"00006"	"Familial, autosomal dominant"	""	"bilateral nuclear cataract"	""	""	""	""	""	""	""	""	""	"cataract"	""
"0000324483"	"00296"	"00434129"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..., nuclear cataract, white opacities"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000324485"	"00296"	"00434131"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..., total cataract"	""	""	""	""	""	""	""	""	"CTRCT33"	"cataract"	""
"0000324486"	"00296"	"00434132"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..., total cataract"	""	""	""	""	""	""	""	""	"CTRCT6"	"cataract"	""
"0000331178"	"00296"	"00441767"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"CTRCT33"	"cataract"	""
"0000334179"	"00296"	"00444929"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., bilateral cataract, visual acuity R 6/19 L 6/9.5, glaucoma"	""	""	""	""	""	""	""	""	"CTRCT33"	"cataract"	""
"0000334238"	"00296"	"00444987"	"00006"	"Familial, autosomal dominant"	""	"congenital cataract; glaucoma"	""	""	""	""	""	""	""	""	""	"cataract"	""


## Screenings ## Do not remove or alter this header ##
## Count = 14
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000060193"	"00060206"	"1"	"00245"	"00245"	"2013-09-04 09:52:33"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000060194"	"00060207"	"1"	"00245"	"00245"	"2013-09-09 02:54:02"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000294040"	"00292872"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000393512"	"00392270"	"1"	"00000"	"03840"	"2021-11-22 09:44:22"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted next-generation sequencing"
"0000393539"	"00392297"	"1"	"00000"	"03840"	"2021-11-22 12:45:22"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted next-generation sequencing"
"0000395603"	"00394356"	"1"	"00000"	"03840"	"2021-12-01 10:17:04"	""	""	"SEQ-NG"	"DNA"	""	"retrospective analysis"
"0000435504"	"00434041"	"1"	"00006"	"00006"	"2023-03-17 19:03:16"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000435546"	"00434079"	"1"	"00006"	"00006"	"2023-03-19 16:52:56"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000435596"	"00434129"	"1"	"00006"	"00006"	"2023-03-20 14:55:46"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000435598"	"00434131"	"1"	"00006"	"00006"	"2023-03-20 14:55:46"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000435599"	"00434132"	"1"	"00006"	"00006"	"2023-03-20 14:55:46"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000443253"	"00441767"	"1"	"00006"	"00006"	"2010-03-16 17:23:28"	""	""	"arraySNP;SEQ"	"DNA"	""	""
"0000446498"	"00444929"	"1"	"00006"	"00006"	"2023-12-28 19:27:56"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000446556"	"00444987"	"1"	"00006"	"00006"	"2023-12-29 15:44:26"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}"	"{{geneid}}"
"0000060193"	"BFSP1"
"0000060194"	"BFSP1"
"0000393512"	"BFSP1"
"0000393539"	"BFSP1"
"0000395603"	"JAG1"
"0000443253"	"BFSP1"


## 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 = 38
"{{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}}"
"0000091165"	"21"	"30"	"20"	"17474721"	"17474722"	"del"	"0.00284698"	"00245"	"BFSP1_000026"	"g.17474721_17474722del"	""	"{PMID:Prokudin 2014:24281366}"	""	"NM_001161705.1:c.1620_1621del (p.(*541Lysext*7))"	"variant in unaffected mother/brother"	"Unknown"	""	""	"0"	""	""	"g.17494076_17494077del"	""	"likely benign"	""
"0000091166"	"1"	"30"	"20"	"17479645"	"17479645"	"subst"	"0.00014213"	"00245"	"BFSP1_000002"	"g.17479645C>G"	""	"{PMID:Prokudin 2014:24281366}"	""	"NM_001161705.1:c.401G>C (Cys134Ser)"	""	"Germline"	""	""	"0"	""	""	"g.17499000C>G"	""	"likely benign"	""
"0000256042"	"0"	"50"	"20"	"17479609"	"17479609"	"subst"	"0.000410146"	"01943"	"BFSP1_000007"	"g.17479609A>G"	""	""	""	"BFSP1(NM_001195.4):c.812T>C (p.I271T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.17498964A>G"	""	"VUS"	""
"0000259255"	"0"	"10"	"20"	"17477592"	"17477592"	"subst"	"0.263863"	"02325"	"BFSP1_000005"	"g.17477592C>T"	""	""	""	"BFSP1(NM_001195.5):c.1033G>A (p.G345S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.17496947C>T"	""	"benign"	""
"0000259256"	"0"	"10"	"20"	"17475217"	"17475217"	"subst"	"0.288608"	"02325"	"BFSP1_000004"	"g.17475217C>T"	""	""	""	"BFSP1(NM_001195.5):c.1500G>A (p.A500=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.17494572C>T"	""	"benign"	""
"0000263689"	"0"	"30"	"20"	"17474942"	"17474942"	"subst"	"0.000869452"	"01943"	"BFSP1_000003"	"g.17474942G>A"	""	""	""	"BFSP1(NM_001195.4):c.1775C>T (p.A592V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.17494297G>A"	""	"likely benign"	""
"0000263690"	"0"	"30"	"20"	"17479534"	"17479534"	"subst"	"0.00270933"	"01943"	"BFSP1_000006"	"g.17479534G>A"	""	""	""	"BFSP1(NM_001195.4):c.887C>T (p.A296V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.17498889G>A"	""	"likely benign"	""
"0000569135"	"0"	"50"	"20"	"17474721"	"17474722"	"del"	"0.00284698"	"01943"	"BFSP1_000026"	"g.17474721_17474722del"	""	""	""	"BFSP1(NM_001195.4):c.1995_1996delTT (p.*666Kfs*8)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.17494076_17494077del"	""	"VUS"	""
"0000569136"	"0"	"50"	"20"	"17474841"	"17474841"	"subst"	"0.000150273"	"01943"	"BFSP1_000008"	"g.17474841C>T"	""	""	""	"BFSP1(NM_001195.4):c.1876G>A (p.E626K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.17494196C>T"	""	"VUS"	""
"0000569137"	"0"	"30"	"20"	"17474968"	"17474968"	"subst"	"0.000381775"	"01943"	"BFSP1_000009"	"g.17474968T>A"	""	""	""	"BFSP1(NM_001195.4):c.1749A>T (p.P583=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.17494323T>A"	""	"likely benign"	""
"0000569138"	"0"	"10"	"20"	"17474968"	"17474968"	"subst"	"0.731055"	"02325"	"BFSP1_000010"	"g.17474968T>C"	""	""	""	"BFSP1(NM_001195.5):c.1749A>G (p.P583=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.17494323T>C"	""	"benign"	""
"0000569139"	"0"	"30"	"20"	"17475368"	"17475368"	"subst"	"0"	"01943"	"BFSP1_000011"	"g.17475368T>C"	""	""	""	"BFSP1(NM_001195.4):c.1349A>G (p.E450G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.17494723T>C"	""	"likely benign"	""
"0000569141"	"0"	"30"	"20"	"17477578"	"17477578"	"subst"	"0.000380952"	"01943"	"BFSP1_000013"	"g.17477578G>A"	""	""	""	"BFSP1(NM_001195.4):c.1042+5C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.17496933G>A"	""	"likely benign"	""
"0000569142"	"0"	"30"	"20"	"17479458"	"17479458"	"subst"	"0.000624784"	"01943"	"BFSP1_000014"	"g.17479458C>G"	""	""	""	"BFSP1(NM_001195.4):c.956+7G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.17498813C>G"	""	"likely benign"	""
"0000569143"	"0"	"30"	"20"	"17511601"	"17511601"	"subst"	"0.000681947"	"01943"	"BFSP1_000015"	"g.17511601C>T"	""	""	""	"BFSP1(NM_001195.4):c.374G>A (p.S125N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.17530956C>T"	""	"likely benign"	""
"0000650729"	"1"	"50"	"20"	"17479609"	"17479609"	"subst"	"0.000410146"	"03575"	"BFSP1_000007"	"g.17479609A>G"	"2/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"no interpretation available; 2 heterozygous, no homozygous; {DB:CLININrs147718368}"	"Germline"	""	"rs147718368"	"0"	""	""	"g.17498964A>G"	""	"VUS"	""
"0000727609"	"0"	"50"	"20"	"17475578"	"17475578"	"subst"	"0"	"02329"	"BFSP1_000012"	"g.17475578T>A"	""	""	""	"BFSP1(NM_001195.4):c.1139A>T (p.D380V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000727610"	"0"	"30"	"20"	"17477651"	"17477651"	"subst"	"2.85555E-5"	"01943"	"BFSP1_000016"	"g.17477651A>G"	""	""	""	"BFSP1(NM_001195.4):c.974T>C (p.I325T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000727611"	"0"	"30"	"20"	"17479542"	"17479542"	"subst"	"5.68588E-5"	"01943"	"BFSP1_000017"	"g.17479542C>T"	""	""	""	"BFSP1(NM_001195.4):c.879G>A (p.R293=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000809170"	"0"	"30"	"20"	"17474821"	"17474821"	"subst"	"2.4371E-5"	"01943"	"BFSP1_000018"	"g.17474821G>A"	""	""	""	"BFSP1(NM_001195.4):c.1896C>T (p.S632=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000824274"	"11"	"50"	"20"	"17477671"	"17477671"	"subst"	"0"	"00000"	"BFSP1_000019"	"g.17477671G>C"	""	"{PMID:Bell 2021:33494148}"	""	"BFSP1 c.957-3C>G, -"	"heterozygous, present in affected father"	"Germline"	"yes"	""	"0"	""	""	"g.17497026G>C"	""	"VUS"	""
"0000824309"	"11"	"50"	"20"	"17477671"	"17477671"	"subst"	"0"	"00000"	"BFSP1_000019"	"g.17477671G>C"	""	"{PMID:Bell 2021:33494148}"	""	"BFSP1 c.957-3C>G, -"	"heterozygous, present in affected father"	"Germline"	"yes"	""	"0"	""	""	"g.17497026G>C"	""	"VUS"	""
"0000826991"	"0"	"90"	"20"	"9200001"	"17900000"	"del"	"0"	"00000"	"JAG1_000783"	"g.9200001_17900000del"	""	"{PMID:Thorsteinsson 2021:33851411}"	""	"JAG1 del20p12.1-p12.2,"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.9200001_17900000del"	""	"pathogenic"	""
"0000866384"	"0"	"50"	"20"	"17474778"	"17474778"	"subst"	"0.000365583"	"01943"	"BFSP1_000020"	"g.17474778C>G"	""	""	""	"BFSP1(NM_001195.4):c.1939G>C (p.E647Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000866385"	"0"	"30"	"20"	"17489583"	"17489583"	"subst"	"0"	"01943"	"BFSP1_000021"	"g.17489583C>T"	""	""	""	"BFSP1(NM_001195.4):c.686G>A (p.R229Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000895231"	"0"	"50"	"20"	"17475024"	"17475024"	"subst"	"0.000105589"	"02325"	"BFSP1_000022"	"g.17475024G>A"	""	""	""	"BFSP1(NM_001195.5):c.1693C>T (p.R565W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000921517"	"21"	"90"	"20"	"17477580"	"17477580"	"subst"	"0"	"00006"	"BFSP1_000025"	"g.17477580T>C"	""	"{PMID:Zhai 2017:28450710}"	""	"625+3A>G"	""	"Germline"	""	""	"0"	""	""	"g.17496935T>C"	""	"pathogenic (dominant)"	""
"0000921546"	"1"	"90"	"20"	"17475315"	"17475315"	"subst"	"0"	"00006"	"BFSP1_000024"	"g.17475315C>T"	""	"{PMID:Li 2016:27307692}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.17494670C>T"	""	"pathogenic"	""
"0000921621"	"0"	"50"	"20"	"17474913"	"17474913"	"subst"	"7.31083E-5"	"00006"	"BFSP1_000023"	"g.17474913C>G"	""	"{PMID:Li 2019:31842807}"	""	""	"ACMG PM2 PP1 PP4"	"Germline"	""	""	"0"	""	""	"g.17494268C>G"	""	"VUS"	"ACMG"
"0000921638"	"0"	"30"	"20"	"17477592"	"17477592"	"subst"	"0.263863"	"00006"	"BFSP1_000005"	"g.17477592C>T"	""	"{PMID:Li 2019:31842807}"	""	""	""	"Germline"	""	"rs6080719"	"0"	""	""	"g.17496947C>T"	""	"likely benign"	""
"0000921645"	"0"	"30"	"20"	"17474968"	"17474968"	"subst"	"0.731055"	"00006"	"BFSP1_000010"	"g.17474968T>C"	""	"{PMID:Li 2019:31842807}"	""	""	""	"Germline"	""	"rs6080718"	"0"	""	""	"g.17494323T>C"	""	"likely benign"	""
"0000921646"	"0"	"30"	"20"	"17475217"	"17475217"	"subst"	"0.288608"	"00006"	"BFSP1_000004"	"g.17475217C>T"	""	"{PMID:Li 2019:31842807}"	""	""	""	"Germline"	""	"rs6136118"	"0"	""	""	"g.17494572C>T"	""	"likely benign"	""
"0000921722"	"0"	"30"	"20"	"17474968"	"17474968"	"subst"	"0.731055"	"00006"	"BFSP1_000010"	"g.17474968T>C"	""	"{PMID:Li 2019:31842807}"	""	""	""	"Germline"	""	"rs6080718"	"0"	""	""	"g.17494323T>C"	""	"likely benign"	""
"0000944648"	"3"	"90"	"20"	"17477734"	"17481069"	"del"	"0"	"00006"	"BFSP1_000001"	"g.17477734_17481069del"	""	"{PMID:Ramachandran 2007:17225135}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.17497089_17500424del"	""	"pathogenic (recessive)"	""
"0000954836"	"21"	"90"	"20"	"17475227"	"17475227"	"del"	"0"	"00006"	"BFSP1_000028"	"g.17475227del"	""	"{PMID:Ma 2016:26694549}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.17494582del"	""	"pathogenic (recessive)"	""
"0000954842"	"0"	"70"	"20"	"17479609"	"17479609"	"subst"	"0.000410146"	"00006"	"BFSP1_000007"	"g.17479609A>G"	""	"{PMID:Ma 2016:26694549}"	""	""	"father unavailable"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.17498964A>G"	""	"likely pathogenic (recessive)"	""
"0000954901"	"1"	"70"	"20"	"17474822"	"17474822"	"subst"	"0"	"00006"	"BFSP1_000027"	"g.17474822G>T"	""	"{PMID:Reis 2013:23508780}"	""	""	""	"Germline"	"no"	""	"0"	""	""	"g.17494177G>T"	""	"VUS"	""
"0001005278"	"0"	"30"	"20"	"17475483"	"17475483"	"subst"	"0"	"01804"	"BFSP1_000029"	"g.17475483A>C"	""	""	""	"BFSP1(NM_001195.3):c.1234T>G (p.(Phe412Val))"	"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 BFSP1
## Count = 38
"{{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}}"
"0000091165"	"00025578"	"30"	"1620"	"0"	"1621"	"0"	"c.1620_1621del"	"r.(?)"	"p.(*666Lysext*7)"	""
"0000091166"	"00025578"	"30"	"776"	"0"	"776"	"0"	"c.776G>C"	"r.(?)"	"p.(Cys259Ser)"	""
"0000256042"	"00025578"	"50"	"812"	"0"	"812"	"0"	"c.812T>C"	"r.(?)"	"p.(Ile271Thr)"	""
"0000259255"	"00025578"	"10"	"1033"	"0"	"1033"	"0"	"c.1033G>A"	"r.(?)"	"p.(Gly345Ser)"	""
"0000259256"	"00025578"	"10"	"1500"	"0"	"1500"	"0"	"c.1500G>A"	"r.(?)"	"p.(Ala500=)"	""
"0000263689"	"00025578"	"30"	"1775"	"0"	"1775"	"0"	"c.1775C>T"	"r.(?)"	"p.(Ala592Val)"	""
"0000263690"	"00025578"	"30"	"887"	"0"	"887"	"0"	"c.887C>T"	"r.(?)"	"p.(Ala296Val)"	""
"0000569135"	"00025578"	"50"	"1995"	"0"	"1996"	"0"	"c.1995_1996del"	"r.(?)"	"p.(Ter666LysextTer7)"	""
"0000569136"	"00025578"	"50"	"1876"	"0"	"1876"	"0"	"c.1876G>A"	"r.(?)"	"p.(Glu626Lys)"	""
"0000569137"	"00025578"	"30"	"1749"	"0"	"1749"	"0"	"c.1749A>T"	"r.(?)"	"p.(Pro583=)"	""
"0000569138"	"00025578"	"10"	"1749"	"0"	"1749"	"0"	"c.1749A>G"	"r.(?)"	"p.(Pro583=)"	""
"0000569139"	"00025578"	"30"	"1349"	"0"	"1349"	"0"	"c.1349A>G"	"r.(?)"	"p.(Glu450Gly)"	""
"0000569141"	"00025578"	"30"	"1042"	"5"	"1042"	"5"	"c.1042+5C>T"	"r.spl?"	"p.?"	""
"0000569142"	"00025578"	"30"	"956"	"7"	"956"	"7"	"c.956+7G>C"	"r.(=)"	"p.(=)"	""
"0000569143"	"00025578"	"30"	"374"	"0"	"374"	"0"	"c.374G>A"	"r.(?)"	"p.(Ser125Asn)"	""
"0000650729"	"00025578"	"50"	"812"	"0"	"812"	"0"	"c.812T>C"	"r.(?)"	"p.(Ile271Thr)"	""
"0000727609"	"00025578"	"50"	"1139"	"0"	"1139"	"0"	"c.1139A>T"	"r.(?)"	"p.(Asp380Val)"	""
"0000727610"	"00025578"	"30"	"974"	"0"	"974"	"0"	"c.974T>C"	"r.(?)"	"p.(Ile325Thr)"	""
"0000727611"	"00025578"	"30"	"879"	"0"	"879"	"0"	"c.879G>A"	"r.(?)"	"p.(Arg293=)"	""
"0000809170"	"00025578"	"30"	"1896"	"0"	"1896"	"0"	"c.1896C>T"	"r.(?)"	"p.(Ser632=)"	""
"0000824274"	"00025578"	"50"	"957"	"-3"	"957"	"-3"	"c.957-3C>G"	"r.spl?"	"p.?"	""
"0000824309"	"00025578"	"50"	"957"	"-3"	"957"	"-3"	"c.957-3C>G"	"r.spl?"	"p.?"	""
"0000826991"	"00025578"	"90"	"-388026"	"0"	"8276716"	"0"	"c.-388026_*8274718del"	"r.0?"	"p.0?"	""
"0000866384"	"00025578"	"50"	"1939"	"0"	"1939"	"0"	"c.1939G>C"	"r.(?)"	"p.(Glu647Gln)"	""
"0000866385"	"00025578"	"30"	"686"	"0"	"686"	"0"	"c.686G>A"	"r.(?)"	"p.(Arg229Gln)"	""
"0000895231"	"00025578"	"50"	"1693"	"0"	"1693"	"0"	"c.1693C>T"	"r.(?)"	"p.(Arg565Trp)"	""
"0000921517"	"00025578"	"90"	"1042"	"3"	"1042"	"3"	"c.1042+3A>G"	"r.spl?"	"p.?"	""
"0000921546"	"00025578"	"90"	"1402"	"0"	"1402"	"0"	"c.1402G>A"	"r.(?)"	"p.(Glu468Lys)"	""
"0000921621"	"00025578"	"50"	"1804"	"0"	"1804"	"0"	"c.1804G>C"	"r.(?)"	"p.(Gly602Arg)"	""
"0000921638"	"00025578"	"30"	"1033"	"0"	"1033"	"0"	"c.1033G>A"	"r.(?)"	"p.(Gly345Ser)"	""
"0000921645"	"00025578"	"30"	"1749"	"0"	"1749"	"0"	"c.1749A>G"	"r.(?)"	"p.(Pro583=)"	""
"0000921646"	"00025578"	"30"	"1500"	"0"	"1500"	"0"	"c.1500G>A"	"r.(?)"	"p.(Ala500=)"	""
"0000921722"	"00025578"	"30"	"1749"	"0"	"1749"	"0"	"c.1749A>G"	"r.(?)"	"p.(Pro583=)"	""
"0000944648"	"00025578"	"90"	"736"	"-1384"	"957"	"-66"	"c.736-1384_957-66del"	"r.(?)"	"p.(Thr246AlafsTer7)"	""
"0000954836"	"00025578"	"90"	"1492"	"0"	"1492"	"0"	"c.1492del"	"r.(?)"	"p.(Ser498LeufsTer24)"	""
"0000954842"	"00025578"	"70"	"812"	"0"	"812"	"0"	"c.812T>C"	"r.(?)"	"p.(Ile271Thr)"	""
"0000954901"	"00025578"	"70"	"1895"	"0"	"1895"	"0"	"c.1895C>A"	"r.(?)"	"p.(Ser632Tyr)"	""
"0001005278"	"00025578"	"30"	"1234"	"0"	"1234"	"0"	"c.1234T>G"	"r.(?)"	"p.(Phe412Val)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 17
"{{screeningid}}"	"{{variantid}}"
"0000060193"	"0000091165"
"0000060194"	"0000091166"
"0000294040"	"0000650729"
"0000393512"	"0000824274"
"0000393539"	"0000824309"
"0000395603"	"0000826991"
"0000435504"	"0000921517"
"0000435546"	"0000921546"
"0000435596"	"0000921638"
"0000435596"	"0000921645"
"0000435596"	"0000921646"
"0000435598"	"0000921621"
"0000435599"	"0000921722"
"0000443253"	"0000944648"
"0000446498"	"0000954836"
"0000446498"	"0000954842"
"0000446556"	"0000954901"