### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = BMP8B)
# 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}}"
"BMP8B"	"bone morphogenetic protein 8b"	"1"	"p35-p32"	"unknown"	"NC_000001.10"	"UD_132455734188"	""	"http://www.LOVD.nl/BMP8B"	""	"1"	"1075"	"656"	"602284"	"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/BMP8B_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2016-10-14 11:11:31"	"00000"	"2022-05-09 15:40:45"


## 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}}"
"00003431"	"BMP8B"	"bone morphogenetic protein 8b"	"001"	"NM_001720.3"	""	"NP_001711.2"	""	""	""	"-376"	"3397"	"1209"	"40254533"	"40223903"	""	"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}}"
"00139"	"ID"	"intellectual disability (ID)"	""	""	""	""	""	"00084"	"2013-06-04 18:18:07"	"00006"	"2015-02-09 10:02:49"
"05155"	"OPLL"	"ossification, posterior longitudinal ligament spine (OPLL)"	""	""	""	""	""	"00006"	"2016-04-14 16:02:41"	""	""


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


## Individuals ## Do not remove or alter this header ##
## Count = 4
"{{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}}"
"00019913"	""	""	""	"1"	""	"00705"	"{PMID:Gilissen 2014:24896178}"	""	"?"	"?"	""	""	"0"	""	""	""	""
"00081435"	""	""	""	"1"	""	"01783"	""	""	""	""	"China"	""	"0"	""	""	"Han"	""
"00081441"	""	""	""	"1"	""	"01783"	""	""	""	""	"China"	""	"0"	""	""	"Han"	""
"00081442"	""	""	""	"1"	""	"01783"	""	""	""	""	"China"	""	"0"	""	""	"Han"	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{individualid}}"	"{{diseaseid}}"
"00019913"	"00139"
"00081435"	"05155"
"00081441"	"05155"
"00081442"	"05155"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 05155
## Count = 4
"{{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}}"
"0000020363"	"00139"	"00019913"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""
"0000061037"	"05155"	"00081435"	"01783"	"Unknown"	""	"thoracic ossification of the ligamentum flavum;\r\nlong regional at the thoracic spine"	""	""	""	""	""	""	""	""	""
"0000061043"	"05155"	"00081441"	"01783"	"Unknown"	""	"thoracic ossification of the ligamentum flavum;\r\nlocalized at the thoracolumbar"	""	""	""	""	""	""	""	""	""
"0000061044"	"05155"	"00081442"	"01783"	"Unknown"	""	"thoracic ossification of the ligamentum flavum\r\nlocalized at the thoracolumbar"	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 4
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000019905"	"00019913"	"1"	"00705"	"00705"	"2014-09-17 10:38:17"	"00006"	"2014-11-08 15:50:39"	"SEQ"	"DNA"	""	""
"0000081572"	"00081435"	"1"	"01783"	"01783"	"2016-10-14 03:52:36"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000081588"	"00081441"	"1"	"01783"	"01783"	"2016-10-14 05:01:17"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000081589"	"00081442"	"1"	"01783"	"01783"	"2016-10-14 05:04:00"	""	""	"SEQ-NG"	"DNA"	"blood"	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}"	"{{geneid}}"
"0000019905"	"BMP8B"
"0000019905"	"KANSL2"
"0000081572"	"BMP8B"
"0000081588"	"BMP8B"
"0000081589"	"BMP8B"


## 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 = 12
"{{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}}"
"0000046785"	"0"	"50"	"1"	"40247197"	"40256120"	"dup"	"0"	"00006"	"BMP8B_000001"	"g.40247197_40256120dup"	""	"{PMID:Gilissen 2014:24896178}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.39781525_39790448dup"	""	"VUS"	""
"0000132235"	"0"	"50"	"1"	"40253904"	"40253904"	"subst"	"0"	"01783"	"BMP8B_000003"	"g.40253904G>A"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.39788232G>A"	""	"VUS"	""
"0000132253"	"0"	"50"	"1"	"40240691"	"40240691"	"subst"	"0.0645351"	"01783"	"BMP8B_000002"	"g.40240691C>T"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.39775019C>T"	""	"VUS"	""
"0000132254"	"0"	"50"	"1"	"40240691"	"40240691"	"subst"	"0.0645351"	"01783"	"BMP8B_000002"	"g.40240691C>T"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.39775019C>T"	""	"VUS"	""
"0000320757"	"0"	"50"	"1"	"40218728"	"40218728"	"subst"	"8.12473E-6"	"01804"	"PPIE_000001"	"g.40218728T>C"	""	""	""	"PPIE(NM_001195007.1):c.837+4T>C (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.39753056T>C"	""	"VUS"	""
"0000320758"	"0"	"50"	"1"	"40228259"	"40228260"	"ins"	"0.000683917"	"01804"	"BMP8B_000004"	"g.40228259_40228260insC"	""	""	""	"PPIE(NM_001195007.1):c.908_909insC (p.(Trp303CysfsTer8))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.39762587_39762588insC"	""	"VUS"	""
"0000320759"	"0"	"30"	"1"	"40229443"	"40229443"	"subst"	"0.000680094"	"01804"	"BMP8B_000005"	"g.40229443C>T"	""	""	""	"BMP8B(NM_001720.3):c.889G>A (p.(Gly297Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.39763771C>T"	""	"likely benign"	""
"0000507392"	"0"	"50"	"1"	"40235614"	"40235614"	"subst"	"0.000454669"	"01804"	"BMP8B_000007"	"g.40235614C>T"	""	""	""	"OXCT2(NM_022120.1):c.1314G>A (p.(Met438Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.39769942C>T"	""	"VUS"	""
"0000507393"	"0"	"30"	"1"	"40235710"	"40235710"	"subst"	"0.00189282"	"01804"	"BMP8B_000008"	"g.40235710G>C"	""	""	""	"OXCT2(NM_022120.1):c.1218C>G (p.(Asp406Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.39770038G>C"	""	"likely benign"	""
"0000507394"	"0"	"50"	"1"	"40235801"	"40235801"	"subst"	"6.25078E-5"	"01943"	"BMP8B_000009"	"g.40235801A>C"	""	""	""	"OXCT2(NM_022120.1):c.1127T>G (p.F376C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.39770129A>C"	""	"VUS"	""
"0000848731"	"0"	"30"	"1"	"40236797"	"40236797"	"subst"	"4.89084E-5"	"01943"	"BMP8B_000013"	"g.40236797G>T"	""	""	""	"OXCT2(NM_022120.1):c.131C>A (p.A44E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000991269"	"0"	"50"	"1"	"40235516"	"40235516"	"subst"	"0"	"01804"	"BMP8B_000014"	"g.40235516G>T"	""	""	""	"OXCT2(NM_022120.1):c.1412C>A (p.(Ala471Asp))"	"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 BMP8B
## Count = 12
"{{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}}"
"0000046785"	"00003431"	"50"	"-1947"	"0"	"335"	"-6471"	"c.-1947_335-6471dup"	"r.?"	"p.?"	"_1_1i"
"0000132235"	"00003431"	"50"	"254"	"0"	"254"	"0"	"c.254C>T"	"r.(254c>u)"	"p.(Ala85Val)"	"1"
"0000132253"	"00003431"	"50"	"354"	"0"	"354"	"0"	"c.354G>A"	"r.(354g>a)"	"p.(Leu118=)"	"2"
"0000132254"	"00003431"	"50"	"354"	"0"	"354"	"0"	"c.354G>A"	"r.(354g>a)"	"p.(Leu118=)"	"2"
"0000320757"	"00003431"	"50"	"8572"	"0"	"8572"	"0"	"c.*7363A>G"	"r.(=)"	"p.(=)"	""
"0000320758"	"00003431"	"50"	"1059"	"504"	"1059"	"505"	"c.1059+504_1059+505insG"	"r.(=)"	"p.(=)"	""
"0000320759"	"00003431"	"30"	"889"	"0"	"889"	"0"	"c.889G>A"	"r.(?)"	"p.(Gly297Ser)"	""
"0000507392"	"00003431"	"50"	"673"	"4366"	"673"	"4366"	"c.673+4366G>A"	"r.(=)"	"p.(=)"	""
"0000507393"	"00003431"	"30"	"673"	"4270"	"673"	"4270"	"c.673+4270C>G"	"r.(=)"	"p.(=)"	""
"0000507394"	"00003431"	"50"	"673"	"4179"	"673"	"4179"	"c.673+4179T>G"	"r.(=)"	"p.(=)"	""
"0000848731"	"00003431"	"30"	"673"	"3183"	"673"	"3183"	"c.673+3183C>A"	"r.(=)"	"p.(=)"	""
"0000991269"	"00003431"	"50"	"673"	"4464"	"673"	"4464"	"c.673+4464C>A"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}"	"{{variantid}}"
"0000019905"	"0000046785"
"0000081572"	"0000132235"
"0000081588"	"0000132253"
"0000081589"	"0000132254"