### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PIGS)
# 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}}"
"PIGS"	"phosphatidylinositol glycan anchor biosynthesis, class S"	"17"	"p13.2"	"unknown"	"NC_000017.10"	"UD_132378591341"	""	""	""	"1"	"14937"	"94005"	"610271"	"1"	"1"	"1"	"1"	""	""	""	""	"1"	""	""	"0"	""	"0"	"00001"	"2013-05-03 00:00:00"	"00081"	"2018-12-31 00:31:16"	"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}}"
"00016158"	"PIGS"	"phosphatidylinositol glycan anchor biosynthesis, class S"	"001"	"NM_033198.3"	""	"NP_149975.1"	""	""	""	"-373"	"2500"	"1668"	"26898887"	"26880406"	""	"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"
"05544"	"GPIBD18"	"Glycosylphosphatidylinositol biosynthesis defect 18"	"AR"	"618143"	""	""	""	"00081"	"2018-12-31 00:30:39"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"PIGS"	"05544"


## Individuals ## Do not remove or alter this header ##
## Count = 3
"{{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}}"
"00174372"	""	""	""	"2"	""	"00081"	""	"monozygotic twin brothers share a phenotype of hypotonia, severe global developmental delay, seizures, visual impairment, CNS atrophy on radiological studies, and hand anomalies (including brachydactyly and clinodactyly)."	"M"	"no"	""	""	"0"	""	""	"white"	""
"00174373"	""	""	""	"2"	""	"00081"	""	"have an affected sibling"	"M"	"no"	""	""	"0"	""	"50 mg pyridoxine hydrochloride by gastrostomy tube"	""	""
"00174374"	""	""	""	"2"	""	"00081"	""	"Affected fetus with multiple joint contractures, consistent with fetal akinesia"	"?"	"no"	""	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}"	"{{diseaseid}}"
"00174372"	"00198"
"00174373"	"00198"
"00174374"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 05544
## Count = 0


## Screenings ## Do not remove or alter this header ##
## Count = 3
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000175263"	"00174372"	"1"	"00081"	"00081"	"2018-08-07 18:30:32"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000175264"	"00174373"	"1"	"00081"	"00081"	"2018-08-07 19:38:37"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000175265"	"00174374"	"1"	"00081"	"00081"	"2018-08-07 20:06:39"	""	""	"SEQ-NG-I"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000175263"	"PIGS"
"0000175264"	"PIGS"
"0000175265"	"PIGS"


## 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}}"
"0000311113"	"0"	"10"	"17"	"26875677"	"26875677"	"subst"	"0.000974659"	"02330"	"UNC119_000004"	"g.26875677G>C"	""	""	""	"UNC119(NM_054035.2):c.267C>G (p.V89=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28548659G>C"	""	"benign"	""
"0000311114"	"0"	"10"	"17"	"26879511"	"26879511"	"subst"	"0.00152773"	"02330"	"UNC119_000006"	"g.26879511C>A"	""	""	""	"UNC119(NM_054035.2):c.65G>T (p.G22V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28552493C>A"	""	"benign"	""
"0000319290"	"0"	"30"	"17"	"26875710"	"26875710"	"subst"	"0.000674544"	"01943"	"UNC119_000005"	"g.26875710G>A"	""	""	""	"UNC119(NM_054035.2):c.234C>T (p.S78=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28548692G>A"	""	"likely benign"	""
"0000395132"	"21"	"99"	"17"	"26898133"	"26898133"	"subst"	"0"	"00081"	"PIGS_000001"	"g.26898133C>T"	""	""	""	""	""	"Somatic"	""	""	"0"	""	""	"g.28571115C>T"	""	"pathogenic"	""
"0000395133"	"11"	"99"	"17"	"26898140"	"26898140"	"subst"	"0"	"00081"	"PIGS_000002"	"g.26898140A>G"	""	""	""	""	""	"Somatic"	""	""	"0"	""	""	"g.28571122A>G"	""	"pathogenic"	""
"0000395134"	"3"	"99"	"17"	"26881909"	"26881945"	"del"	"0"	"00081"	"PIGS_000003"	"g.26881909_26881945delinsAGCAACC"	""	""	""	""	""	"Somatic"	""	""	"0"	""	""	"g.28554891_28554927delinsAGCAACC"	""	"pathogenic"	""
"0000395135"	"21"	"99"	"17"	"26885505"	"26885505"	"subst"	"4.11184E-6"	"00081"	"PIGS_000004"	"g.26885505T>C"	""	""	""	""	""	"Somatic"	""	""	"0"	""	""	"g.28558487T>C"	""	"pathogenic"	""
"0000395136"	"11"	"99"	"17"	"26890448"	"26890448"	"subst"	"0"	"00081"	"PIGS_000005"	"g.26890448C>G"	""	""	""	""	""	"Somatic"	""	""	"0"	""	""	"g.28563430C>G"	""	"pathogenic"	""
"0000560725"	"0"	"30"	"17"	"26875677"	"26875677"	"subst"	"0.000974659"	"01943"	"UNC119_000004"	"g.26875677G>C"	""	""	""	"UNC119(NM_054035.2):c.267C>G (p.V89=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28548659G>C"	""	"likely benign"	""
"0000560728"	"0"	"30"	"17"	"26879519"	"26879519"	"subst"	"0"	"02326"	"PIGS_000007"	"g.26879519C>T"	""	""	""	"UNC119(NM_054035.2):c.57G>A (p.G19=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28552501C>T"	""	"likely benign"	""
"0000616440"	"0"	"30"	"17"	"26875710"	"26875710"	"subst"	"0.000674544"	"02330"	"UNC119_000005"	"g.26875710G>A"	""	""	""	"UNC119(NM_054035.2):c.234C>T (p.S78=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28548692G>A"	""	"likely benign"	""
"0000854793"	"0"	"50"	"17"	"26881426"	"26881426"	"subst"	"0.000147454"	"01943"	"PIGS_000008"	"g.26881426C>A"	""	""	""	"PIGS(NM_033198.4):c.1480G>T (p.A494S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982378"	"0"	"50"	"17"	"26887146"	"26887146"	"subst"	"1.22183E-5"	"01804"	"PIGS_000009"	"g.26887146A>G"	""	""	""	"PIGS(NM_033198.4):c.740T>C (p.(Ile247Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982379"	"0"	"50"	"17"	"26898177"	"26898179"	"del"	"0"	"01804"	"ALDOC_000001"	"g.26898177_26898179del"	""	""	""	"PIGS(NM_033198.4):c.67_69del (p.(Phe23del))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001041707"	"0"	"50"	"17"	"26881942"	"26881942"	"subst"	"1.22062E-5"	"01804"	"PIGS_000010"	"g.26881942G>A"	""	""	""	"PIGS(NM_033198.4):c.1319C>T (p.(Thr440Ile))"	"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 PIGS
## Count = 15
"{{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}}"
"0000311113"	"00016158"	"10"	"7229"	"0"	"7229"	"0"	"c.*5561C>G"	"r.(=)"	"p.(=)"	""
"0000311114"	"00016158"	"10"	"3395"	"0"	"3395"	"0"	"c.*1727G>T"	"r.(=)"	"p.(=)"	""
"0000319290"	"00016158"	"30"	"7196"	"0"	"7196"	"0"	"c.*5528C>T"	"r.(=)"	"p.(=)"	""
"0000395132"	"00016158"	"99"	"108"	"0"	"108"	"0"	"c.108G>A"	"r.(?)"	"p.(Trp36*)"	""
"0000395133"	"00016158"	"99"	"101"	"0"	"101"	"0"	"c.101T>C"	"r.(?)"	"p.(Leu34Pro)"	""
"0000395134"	"00016158"	"99"	"1316"	"0"	"1352"	"0"	"c.1316_1352delinsGGTTGCT"	"r.(?)"	"p.(Thr439_Lys451delinsArgLeuLeu)"	""
"0000395135"	"00016158"	"99"	"923"	"0"	"923"	"0"	"c.923A>G"	"r.(?)"	"p.(Glu308Gly)"	""
"0000395136"	"00016158"	"99"	"468"	"1"	"468"	"1"	"c.468+1G>C"	"r.spl?"	"p.?"	""
"0000560725"	"00016158"	"30"	"7229"	"0"	"7229"	"0"	"c.*5561C>G"	"r.(=)"	"p.(=)"	""
"0000560728"	"00016158"	"30"	"3387"	"0"	"3387"	"0"	"c.*1719G>A"	"r.(=)"	"p.(=)"	""
"0000616440"	"00016158"	"30"	"7196"	"0"	"7196"	"0"	"c.*5528C>T"	"r.(=)"	"p.(=)"	""
"0000854793"	"00016158"	"50"	"1480"	"0"	"1480"	"0"	"c.1480G>T"	"r.(?)"	"p.(Ala494Ser)"	""
"0000982378"	"00016158"	"50"	"740"	"0"	"740"	"0"	"c.740T>C"	"r.(?)"	"p.(Ile247Thr)"	""
"0000982379"	"00016158"	"50"	"67"	"0"	"69"	"0"	"c.67_69del"	"r.(?)"	"p.(Phe23del)"	""
"0001041707"	"00016158"	"50"	"1319"	"0"	"1319"	"0"	"c.1319C>T"	"r.(?)"	"p.(Thr440Ile)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}"	"{{variantid}}"
"0000175263"	"0000395132"
"0000175263"	"0000395133"
"0000175264"	"0000395134"
"0000175265"	"0000395135"
"0000175265"	"0000395136"