### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = NOD1)
# 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}}"
"NOD1"	"nucleotide binding oligomerization domain containing 1"	"7"	"p14.3"	"unknown"	"NG_013025.1"	"UD_144428692146"	""	""	""	"1"	"16390"	"10392"	"605980"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2020-12-20 15:08:43"	""	""	"00005"	"2021-08-30 09:57:55"


## 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}}"
"00000072"	"NOD1"	"transcript variant 1"	"002"	"NM_006092.3"	""	"NP_006083.1"	""	""	""	"-612"	"3973"	"2862"	"30478866"	"30424527"	"00001"	"2020-12-20 15:12:12"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00047"	"CD"	"Crohn\'s disease"	""	""	""	""	""	"00001"	"2020-12-20 15:06:49"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"NOD1"	"00047"


## Individuals ## Do not remove or alter this header ##
## Count = 3
"{{id}}"	"{{fatherid}}"	"{{motherid}}"	"{{panelid}}"	"{{panel_size}}"	"{{license}}"	"{{owned_by}}"	"{{Individual/Reference}}"	"{{Individual/Remarks}}"	"{{Individual/Remarks_Non_Public}}"	"{{Individual/Origin/Geographic}}"	"{{Individual/Origin/Ethnic}}"	"{{Individual/Origin/Population}}"	"{{Individual/Gender}}"
"00000277"	""	""	""	"1"	""	"00002"	"{PMID:Kek Heng Chua et al. (2016):27069792}"	""	""	"Malaysia"	"Malay"	""	""
"00000278"	""	""	""	"1"	""	"00002"	"{PMID:Kek Heng Chua et al. (2016):27069792}"	""	""	"Malaysia"	"Chinese"	""	""
"00000279"	""	""	""	"1"	""	"00002"	"{PMID:Kek Heng Chua et al. (2016):27069792}"	""	""	"Malaysia"	"Indian"	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}"	"{{diseaseid}}"
"00000277"	"00047"
"00000278"	"00047"
"00000279"	"00047"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00047
## 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}}"
"0000000292"	"00000277"	"1"	"00002"	"00002"	"2020-12-20 15:23:56"	""	""	"PCR"	"DNA"
"0000000293"	"00000278"	"1"	"00002"	"00002"	"2020-12-20 15:33:12"	""	""	"PCR"	"DNA"
"0000000294"	"00000279"	"1"	"00002"	"00002"	"2020-12-20 15:39:13"	""	""	"PCR"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000000292"	"NOD1"
"0000000293"	"NOD1"
"0000000294"	"NOD1"


## 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/Published_as}}"	"{{VariantOnGenome/Remarks}}"	"{{VariantOnGenome/dbSNP}}"
"0000001351"	"0"	"90"	"7"	"30452621"	"30452621"	"subst"	"0"	"00002"	"NOD1_000001"	"g.30452621C>T"	"8/20"	"{PMID:Kek Heng Chua et al. (2016):27069792}, {dbSNP:rs2075820}"	""	""	"rs2075820"
"0000001352"	"3"	"90"	"7"	"30452621"	"30452621"	"subst"	"0"	"00002"	"NOD1_000001"	"g.30452621C>T"	"2/20"	"{PMID:Kek Heng Chua et al. (2016):27069792}, {dbSNP:rs2075820}"	""	""	"rs2075820"
"0000001353"	"0"	"90"	"7"	"30452621"	"30452621"	"subst"	"0"	"00002"	"NOD1_000001"	"g.30452621C>T"	"14/27"	"{PMID:Kek Heng Chua et al. (2016):27069792}, {dbSNP:rs2075820}"	""	""	"rs2075820"
"0000001354"	"3"	"90"	"7"	"30452621"	"30452621"	"subst"	"0"	"00002"	"NOD1_000001"	"g.30452621C>T"	"1/27"	"{PMID:Kek Heng Chua et al. (2016):27069792}, {dbSNP:rs2075820}"	""	""	"rs2075820"
"0000001355"	"0"	"90"	"7"	"30452621"	"30452621"	"subst"	"0"	"00002"	"NOD1_000001"	"g.30452621C>T"	"25/38"	"{PMID:Kek Heng Chua et al. (2016):27069792}, {dbSNP:rs2075820}"	""	""	"rs2075820"
"0000001356"	"3"	"90"	"7"	"30452621"	"30452621"	"subst"	"0"	"00002"	"NOD1_000001"	"g.30452621C>T"	"2/38"	"{PMID:Kek Heng Chua et al. (2016):27069792}, {dbSNP:rs2075820}"	""	""	"rs2075820"


## 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 NOD1
## Count = 6
"{{id}}"	"{{transcriptid}}"	"{{effectid}}"	"{{position_c_start}}"	"{{position_c_start_intron}}"	"{{position_c_end}}"	"{{position_c_end_intron}}"	"{{VariantOnTranscript/DNA}}"	"{{VariantOnTranscript/Exon}}"	"{{VariantOnTranscript/Protein}}"	"{{VariantOnTranscript/RNA}}"	"{{VariantOnTranscript/Published_as}}"	"{{VariantOnTranscript/GVS/Function}}"	"{{VariantOnTranscript/VariantOnTranscript}}"
"0000001351"	"00000072"	"90"	"796"	"0"	"796"	"0"	"c.796G>A"	""	"p.(Glu266Lys)"	"r.(?)"	""	""	""
"0000001352"	"00000072"	"90"	"796"	"0"	"796"	"0"	"c.796G>A"	""	"p.(Glu266Lys)"	"r.(?)"	""	""	""
"0000001353"	"00000072"	"90"	"796"	"0"	"796"	"0"	"c.796G>A"	""	"p.(Glu266Lys)"	"r.(?)"	""	""	""
"0000001354"	"00000072"	"90"	"796"	"0"	"796"	"0"	"c.796G>A"	""	"p.(Glu266Lys)"	"r.(?)"	""	""	""
"0000001355"	"00000072"	"90"	"796"	"0"	"796"	"0"	"c.796G>A"	""	"p.(Glu266Lys)"	"r.(?)"	""	""	""
"0000001356"	"00000072"	"90"	"796"	"0"	"796"	"0"	"c.796G>A"	""	"p.(Glu266Lys)"	"r.(?)"	""	""	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}"	"{{variantid}}"
"0000000292"	"0000001351"
"0000000292"	"0000001352"
"0000000293"	"0000001353"
"0000000293"	"0000001354"
"0000000294"	"0000001355"
"0000000294"	"0000001356"