### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = UFSP2)
# 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}}"
"UFSP2"	"UFM1-specific peptidase 2"	"4"	"q35.1"	"unknown"	"NC_000004.11"	"UD_133033890094"	""	"https://www.LOVD.nl/UFSP2"	""	"1"	"25640"	"55325"	"611482"	"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/UFSP2_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2017-03-06 08:39:43"	"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}}"
"00022331"	"UFSP2"	"transcript variant 1"	"002"	"NM_018359.3"	""	"NP_060829.2"	""	""	""	"-117"	"2262"	"1410"	"186347139"	"186320694"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00139"	"ID"	"intellectual disability (ID)"	""	""	""	""	""	"00084"	"2013-06-04 18:18:07"	"00006"	"2015-02-09 10:02:49"
"04282"	"CVI"	"cerebral visual impairment (CVI)"	""	""	""	""	""	"00006"	"2015-06-15 15:37:52"	"00006"	"2015-06-15 15:38:26"
"05058"	"BHD"	"dysplasia, hip, Beukes type (BHD)"	"AD"	"142669"	""	""	""	"00000"	"2015-09-23 11:00:40"	"00006"	"2021-12-10 21:51:32"
"06635"	"SEMDDR"	"?Spondyloepimetaphyseal dysplasia, Di Rocco type"	"AD"	"617974"	""	""	""	"00006"	"2021-12-10 23:20:41"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"UFSP2"	"05058"
"UFSP2"	"06635"


## Individuals ## Do not remove or alter this header ##
## Count = 1
"{{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}}"
"00039407"	""	""	""	"1"	""	"01158"	"{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}"	"{{diseaseid}}"
"00039407"	"00139"
"00039407"	"04282"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 04282, 05058, 06635
## 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}}"
"0000078842"	"04282"	"00039407"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000039649"	"00039407"	"1"	"01158"	"01158"	"2015-06-15 15:31:59"	""	""	"SEQ-NG"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 0


## 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 = 16
"{{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}}"
"0000067273"	"0"	"70"	"4"	"186321583"	"186321583"	"subst"	"1.62554E-5"	"01158"	"UFSP2_000001"	"g.186321583T>C"	""	"{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}"	""	""	""	"De novo"	"-"	""	"0"	""	""	"g.185400429T>C"	""	"likely pathogenic"	""
"0000522238"	"0"	"70"	"4"	"186329553"	"186329553"	"subst"	"0"	"02327"	"ANKRD37_000002"	"g.186329553A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.185408399A>G"	""	"likely pathogenic"	""
"0000609142"	"0"	"50"	"4"	"186339740"	"186339740"	"subst"	"0"	"01943"	"ANKRD37_000003"	"g.186339740C>G"	""	""	""	"UFSP2(NM_018359.3):c.266+1G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.185418586C>G"	""	"VUS"	""
"0000859380"	"0"	"50"	"4"	"186339903"	"186339903"	"subst"	"4.50657E-6"	"01804"	"ANKRD37_000004"	"g.186339903A>G"	""	""	""	"UFSP2(NM_018359.3):c.104T>C (p.(Leu35Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000948307"	"0"	"90"	"4"	"186337011"	"186337011"	"subst"	"0.000130563"	"02327"	"ANKRD37_000005"	"g.186337011A>T"	""	""	""	"UFSP2(NM_018359.5):c.344T>A (p.(Val115Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000948308"	"0"	"30"	"4"	"186339620"	"186339620"	"subst"	"0.0182353"	"01804"	"ANKRD37_000006"	"g.186339620T>C"	""	""	""	"UFSP2(NM_018359.3):c.308A>G (p.(Lys103Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000963092"	"0"	"30"	"4"	"186321131"	"186321131"	"dup"	"0"	"01804"	"ANKRD37_000007"	"g.186321131dup"	""	""	""	"UFSP2(NM_018359.3):c.*419dup (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000963093"	"0"	"50"	"4"	"186329171"	"186329171"	"subst"	"0"	"02325"	"ANKRD37_000008"	"g.186329171G>T"	""	""	""	"UFSP2(NM_018359.5):c.1040C>A (p.S347*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000976242"	"0"	"50"	"4"	"186329140"	"186329140"	"subst"	"8.12209E-6"	"01804"	"ANKRD37_000009"	"g.186329140C>A"	""	""	""	"UFSP2(NM_018359.5):c.1071G>T (p.(Gln357His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000976243"	"0"	"50"	"4"	"186336934"	"186336934"	"subst"	"2.03196E-5"	"02325"	"ANKRD37_000010"	"g.186336934G>C"	""	""	""	"UFSP2(NM_018359.5):c.421C>G (p.(His141Asp), p.H141D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000976244"	"0"	"70"	"4"	"186337011"	"186337011"	"subst"	"0.000130563"	"01804"	"ANKRD37_000005"	"g.186337011A>T"	""	""	""	"UFSP2(NM_018359.5):c.344T>A (p.(Val115Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000976245"	"0"	"50"	"4"	"186343634"	"186343634"	"subst"	"5.00969E-5"	"01804"	"ANKRD37_000011"	"g.186343634C>T"	""	""	""	"UFSP2(NM_018359.5):c.82+5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000994231"	"0"	"50"	"4"	"186329089"	"186329089"	"subst"	"0"	"01804"	"ANKRD37_000013"	"g.186329089C>T"	""	""	""	"UFSP2(NM_018359.3):c.1121+1G>A (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000994232"	"0"	"50"	"4"	"186336335"	"186336335"	"subst"	"4.29019E-6"	"02325"	"ANKRD37_000014"	"g.186336335C>G"	""	""	""	"UFSP2(NM_018359.5):c.658G>C (p.D220H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000994233"	"0"	"30"	"4"	"186336474"	"186336474"	"subst"	"0"	"01804"	"ANKRD37_000015"	"g.186336474A>C"	""	""	""	"UFSP2(NM_018359.3):c.519T>G (p.(Ile173Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001034468"	"0"	"50"	"4"	"186336934"	"186336934"	"subst"	"2.03196E-5"	"01804"	"ANKRD37_000010"	"g.186336934G>C"	""	""	""	"UFSP2(NM_018359.5):c.421C>G (p.(His141Asp), p.H141D)"	"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 UFSP2
## Count = 16
"{{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}}"
"0000067273"	"00022331"	"70"	"1373"	"0"	"1373"	"0"	"c.1373A>G"	"r.(?)"	"p.(Tyr458Cys)"	"12"
"0000522238"	"00022331"	"70"	"868"	"0"	"868"	"0"	"c.868T>C"	"r.(?)"	"p.(Tyr290His)"	""
"0000609142"	"00022331"	"50"	"266"	"1"	"266"	"1"	"c.266+1G>C"	"r.spl?"	"p.?"	""
"0000859380"	"00022331"	"50"	"104"	"0"	"104"	"0"	"c.104T>C"	"r.(?)"	"p.(Leu35Pro)"	""
"0000948307"	"00022331"	"90"	"344"	"0"	"344"	"0"	"c.344T>A"	"r.(?)"	"p.(Val115Glu)"	""
"0000948308"	"00022331"	"30"	"308"	"0"	"308"	"0"	"c.308A>G"	"r.(?)"	"p.(Lys103Arg)"	""
"0000963092"	"00022331"	"30"	"1829"	"0"	"1829"	"0"	"c.*419dup"	"r.(?)"	"p.(=)"	""
"0000963093"	"00022331"	"50"	"1040"	"0"	"1040"	"0"	"c.1040C>A"	"r.(?)"	"p.(Ser347*)"	""
"0000976242"	"00022331"	"50"	"1071"	"0"	"1071"	"0"	"c.1071G>T"	"r.(?)"	"p.(Gln357His)"	""
"0000976243"	"00022331"	"50"	"421"	"0"	"421"	"0"	"c.421C>G"	"r.(?)"	"p.(His141Asp)"	""
"0000976244"	"00022331"	"70"	"344"	"0"	"344"	"0"	"c.344T>A"	"r.(?)"	"p.(Val115Glu)"	""
"0000976245"	"00022331"	"50"	"82"	"5"	"82"	"5"	"c.82+5G>A"	"r.spl?"	"p.?"	""
"0000994231"	"00022331"	"50"	"1121"	"1"	"1121"	"1"	"c.1121+1G>A"	"r.spl?"	"p.?"	""
"0000994232"	"00022331"	"50"	"658"	"0"	"658"	"0"	"c.658G>C"	"r.(?)"	"p.(Asp220His)"	""
"0000994233"	"00022331"	"30"	"519"	"0"	"519"	"0"	"c.519T>G"	"r.(?)"	"p.(Ile173Met)"	""
"0001034468"	"00022331"	"50"	"421"	"0"	"421"	"0"	"c.421C>G"	"r.(?)"	"p.(His141Asp)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{variantid}}"
"0000039649"	"0000067273"