### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PEG10)
# 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}}"
"PEG10"	"paternally expressed 10"	"7"	"q21"	"maternal"	"NG_011340.1"	"UD_132119143400"	""	"http://www.LOVD.nl/PEG10"	""	"1"	"14005"	"23089"	"609810"	"1"	"1"	"1"	"1"	""	""	"g"	"http://databases.lovd.nl/shared/refseq/PEG10_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2014-11-21 20:33:36"	"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}}"
"00015965"	"PEG10"	"transcript variant 1"	"004"	"NM_015068.3"	""	"NP_055883.2"	""	""	""	"-479"	"6139"	"2126"	"94285637"	"94299007"	""	"0000-00-00 00:00:00"	""	""


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


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


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


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


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


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


## 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 = 9
"{{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}}"
"0000331704"	"0"	"50"	"7"	"94294798"	"94294798"	"subst"	"0.00107319"	"01804"	"PEG10_000001"	"g.94294798C>T"	""	""	""	"PEG10(NM_001040152.1):c.*952C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.94665486C>T"	""	"VUS"	""
"0000331705"	"0"	"50"	"7"	"94294970"	"94294970"	"subst"	"6.11579E-5"	"01804"	"PEG10_000002"	"g.94294970G>A"	""	""	""	"PEG10(NM_001040152.1):c.*1124G>A (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.94665658G>A"	""	"VUS"	""
"0000533137"	"0"	"50"	"7"	"94294991"	"94294991"	"subst"	"0"	"01804"	"PEG10_000004"	"g.94294991G>A"	""	""	""	"PEG10(NM_001040152.1):c.*1145G>A (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.94665679G>A"	""	"VUS"	""
"0000721619"	"0"	"70"	"7"	"94285334"	"94285334"	"del"	"0"	"01943"	"PEG10_000005"	"g.94285334del"	""	""	""	"SGCE(NM_001346713.1):c.77delG (p.S26Tfs*10)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000721620"	"0"	"50"	"7"	"94285409"	"94285409"	"subst"	"4.08547E-6"	"02329"	"PEG10_000003"	"g.94285409A>G"	""	""	""	"SGCE(NM_001099401.2):c.2T>C (p.M1?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000851728"	"0"	"90"	"7"	"94285300"	"94285300"	"subst"	"0"	"02327"	"PEG10_000006"	"g.94285300A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000851729"	"0"	"50"	"7"	"94285307"	"94285307"	"subst"	"0"	"02329"	"PEG10_000007"	"g.94285307A>T"	""	""	""	"SGCE(NM_001346713.2):c.104T>A (p.L35Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000888056"	"0"	"50"	"7"	"94285386"	"94285386"	"subst"	"0"	"02325"	"PEG10_000008"	"g.94285386G>T"	""	""	""	"SGCE(NM_001099401.2):c.25C>A (p.L9M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000996770"	"0"	"30"	"7"	"94285352"	"94285352"	"subst"	"5.70972E-5"	"01804"	"PEG10_000009"	"g.94285352C>T"	""	""	""	"SGCE(NM_003919.2):c.59G>A (p.(Arg20Gln))"	"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 PEG10
## Count = 9
"{{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}}"
"0000331704"	"00015965"	"50"	"1930"	"0"	"1930"	"0"	"c.1930C>T"	"r.(?)"	"p.?"	""
"0000331705"	"00015965"	"50"	"2102"	"0"	"2102"	"0"	"c.2102G>A"	"r.(?)"	"p.?"	""
"0000533137"	"00015965"	"50"	"2123"	"0"	"2123"	"0"	"c.2123G>A"	"r.(?)"	"p.?"	""
"0000721619"	"00015965"	"70"	"-782"	"0"	"-782"	"0"	"c.-782del"	"r.(?)"	"p.(=)"	""
"0000721620"	"00015965"	"50"	"-707"	"0"	"-707"	"0"	"c.-707A>G"	"r.(?)"	"p.(=)"	""
"0000851728"	"00015965"	"90"	"-816"	"0"	"-816"	"0"	"c.-816A>C"	"r.(?)"	"p.(=)"	""
"0000851729"	"00015965"	"50"	"-809"	"0"	"-809"	"0"	"c.-809A>T"	"r.(?)"	"p.(=)"	""
"0000888056"	"00015965"	"50"	"-730"	"0"	"-730"	"0"	"c.-730G>T"	"r.(?)"	"p.(=)"	""
"0000996770"	"00015965"	"30"	"-764"	"0"	"-764"	"0"	"c.-764C>T"	"r.(?)"	"p.(=)"	""


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