### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CHASERR)
# 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}}"
"CHASERR"	"CHD2 adjacent suppressive regulatory RNA"	"15"	"q26.1"	"unknown"	"NC_000015.9"	"NC_000015.9"	""	"https://www.LOVD.nl/CHASERR"	""	"1"	"48626"	"100507217"	"620993"	"1"	"1"	"1"	"1"	"Establishment 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>."	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2024-01-26 00:00:00"	"00006"	"2024-11-22 19:20:11"	"00006"	"2024-11-22 20:37:11"


## 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}}"
"00025958"	"CHASERR"	"transcript variant 1, long non-coding RNA"	"000"	"NR_037601.1"	""	""	""	""	""	"1"	"1788"	"0"	"1"	"1"	"00006"	"2024-11-22 19:19:25"	""	""


## 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}}"
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"
"07128"	"NEDFSAB"	"neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities"	""	"621012"	""	""	""	"00006"	"2024-11-22 19:18:55"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"CHASERR"	"05611"
"CHASERR"	"07128"


## 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}}"
"00457963"	""	""	""	"1"	""	"00006"	"{PMID:Ganesh 2024:39442041}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	"United States"	""	"0"	""	""	""	"Pat1"
"00457964"	""	""	""	"1"	""	"00006"	"{PMID:Ganesh 2024:39442041}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	"France"	""	"0"	""	""	""	"Pat2"
"00457965"	""	""	""	"1"	""	"00006"	"{PMID:Ganesh 2024:39442041}"	"2-generation family, 1 affected, unaffected non carrier parents"	""	""	"France"	""	"0"	""	""	""	"Pat3"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}"	"{{diseaseid}}"
"00457963"	"05611"
"00457964"	"05611"
"00457965"	"05611"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 05611, 07128
## Count = 3
"{{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}}"
"0000346413"	"05611"	"00457963"	"00006"	"Isolated (sporadic)"	"07y"	"see paper; ..., 37w-birth weight 3.4 kg (60th), length 47 cm (15th), OFC 35 cm (75th); 2y-weight 10.1 kg (17th), height 74.5 cm (<1st), OFC 44.8 cm (1st); facial dysmorphisms; EEG 1m-normal, 4y-epileptiform discharges (generalized polyspike-and-wave); EEG background slowing, 4y-rhythmic delta slowing; 15m-infantile spasms, myoclonic seizures; no photosensitive seizures, no generalized tonic-clonic seizures; MRI brain cortical atrophy, optic nerve atrophy, cerebral hypomyelination, thin corpus callosum; severe global developmental delay; severe intellectual disability; <1m- first neurodevelopmental symptoms/delay; 7y-not able to communicate with words, not able to walk independently, not able to grasp small objects, not able to use spoon/fork, not able to drink from cup, not able to dress"	""	""	""	""	""	""	"NEDFSAB"	"neurodevelopmental delay"
"0000346414"	"05611"	"00457964"	"00006"	"Isolated (sporadic)"	"05y"	"see paper; ..., 37w-birth weight 4.0 kg (90th), length 54 cm (90th), OFC 36 cm (50th); 2y-weight 13.4 kg (70th), hight 95 cm (70th), OFC 47.5 cm (30th); facial dysmorphisms; EEG 2y6m-normal, 4y-no epileptiform discharges; EEG background slowing, 4y-continuous theta-delta slowing; no seizures; MRI brain cortical atrophy, optic nerve atrophy, cerebral hypomyelination, thin corpus callosum; severe global developmental delay; severe intellectual disability; <1m-first neurodevelopmental symptoms/delay; 5y-not able to communicate with words, not able to walk independently, not able to grasp small objects, not able to use spoon/fork, not able to drink from cup, not able to dress"	""	""	""	""	""	""	"NEDFSAB"	"neurodevelopmental delay"
"0000346415"	"05611"	"00457965"	"00006"	"Isolated (sporadic)"	"04y"	"see paper; ..., 37w-birth weight 3.6 kg (75th), length 50.5 cm (62th), OFC 36.8 cm (93th); 2y-weight 9.8 kg (3rd), hight 81 cm (2nd), OFC 45 cm (1st); facial dysmorphisms; EEG 10d-posterior\r\nslowing, 4y-epileptiform discharges (generalized spike-and-wave); EEG background slowing, 4y-polymorphic rhythmic slowing; 2y-infantile spasms, tonic seizures; no photosensitive seizures, no eneralized tonic-clonic seizures; MRI brain cortical atrophy, optic nerve atrophy, cerebral hypomyelination, thin corpus callosum; severe global developmental delay; severe intellectual disability; <1m-first neurodevelopmental symptoms/delay; 4y-not able to communicate with words, not able to walk independently, not able to grasp small objects, not able to use spoon/fork, not able to drink from cup, not able to dress"	""	""	""	""	""	""	"NEDFSAB"	"neurodevelopmental delay"


## 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}}"
"0000459583"	"00457963"	"1"	"00006"	"00006"	"2024-11-22 19:36:17"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000459584"	"00457964"	"1"	"00006"	"00006"	"2024-11-22 19:59:39"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000459585"	"00457965"	"1"	"00006"	"00006"	"2024-11-22 20:33:15"	""	""	"PCR;SEQ"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000459583"	"CHASERR"
"0000459584"	"CHASERR"
"0000459585"	"CHASERR"


## 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 = 6
"{{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}}"
"0001017648"	"1"	"90"	"15"	"93411310"	"93433724"	"del"	"0"	"00006"	"CHASERR_000001"	"g.93411310_93433724del"	""	"{PMID:Ganesh 2024:39442041}"	""	""	"22 kb deletion"	"De novo"	""	""	"0"	""	""	"g.92868080_92890494del"	""	"pathogenic (dominant)"	""
"0001017649"	"1"	"30"	"15"	"93435503"	"93435503"	"subst"	"0"	"00006"	"CHASERR_000002"	"g.93435503G>T"	""	"{PMID:Ganesh 2024:39442041}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.92892273G>T"	""	"likely benign"	""
"0001017650"	"1"	"30"	"15"	"93442277"	"93442277"	"subst"	"0"	"00006"	"CHASERR_000003"	"g.93442277G>C"	""	"{PMID:Ganesh 2024:39442041}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.92899047G>C"	""	"likely benign"	""
"0001017651"	"1"	"30"	"15"	"93443759"	"93443759"	"subst"	"0"	"00006"	"CHASERR_000004"	"g.93443759G>C"	""	"{PMID:Ganesh 2024:39442041}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.92900529G>C"	""	"likely benign"	""
"0001017652"	"0"	"90"	"15"	"93422237"	"93430604"	"del"	"0"	"00006"	"CHASERR_000005"	"g.93422237_93430604del"	""	"{PMID:Ganesh 2024:39442041}"	""	""	"8.4 kb deletion"	"De novo"	""	""	"0"	""	""	"g.92879007_92887374del"	""	"pathogenic (dominant)"	""
"0001017653"	"0"	"90"	"15"	"93409295"	"93434514"	"del"	"0"	"00006"	"CHASERR_000006"	"g.93409295_93434514del"	""	"{PMID:Ganesh 2024:39442041}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.92866065_92891284del"	""	"pathogenic (dominant)"	""


## 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 CHASERR
## Count = 6
"{{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}}"
"0001017648"	"00025958"	"90"	"0"	"0"	"0"	"0"	"n.-14763_695-1510del"	"r.0?"	"-"	"_1_3i"
"0001017649"	"00025958"	"30"	"763"	"201"	"763"	"201"	"n.763+201G>T"	"r.(?)"	"-"	""
"0001017650"	"00025958"	"30"	"0"	"0"	"0"	"0"	"n.*300G>C"	"r.(?)"	"-"	""
"0001017651"	"00025958"	"30"	"0"	"0"	"0"	"0"	"n.*1782G>C"	"r.(?)"	"-"	""
"0001017652"	"00025958"	"90"	"0"	"0"	"0"	"0"	"n.-3836_694+1120del"	"r.(?)"	"-"	"_1_3i"
"0001017653"	"00025958"	"90"	"0"	"0"	"0"	"0"	"n.-16778_695-720del"	"r.0?"	"-"	"_1_3i"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}"	"{{variantid}}"
"0000459583"	"0001017648"
"0000459583"	"0001017649"
"0000459583"	"0001017650"
"0000459583"	"0001017651"
"0000459584"	"0001017652"
"0000459585"	"0001017653"