### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = TYK2)
# 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}}"
"TYK2"	"tyrosine kinase 2"	"19"	"p13.2"	"unknown"	"LRG_121"	"UD_144440366887"	""	""	""	"1"	"12440"	"7297"	"176941"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2020-12-22 14:49:45"	""	""	"00005"	"2021-08-29 14:30:45"


## 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}}"
"00000077"	"TYK2"	"tyrosine kinase 2"	"002"	"NM_003331.4"	""	"NP_003322.3"	""	""	""	"-378"	"3870"	"3564"	"10380572"	"10350528"	"00001"	"2020-12-22 14:50:37"	""	""


## 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}}"
"TYK2"	"00047"


## Individuals ## Do not remove or alter this header ##
## Count = 1
"{{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}}"
"00000294"	""	""	""	"1"	""	"00002"	"{PMID:L H Lian et al. (2013):23408403}"	""	""	"Malaysia"	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}"	"{{diseaseid}}"
"00000294"	"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 = 1
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"
"0000000309"	"00000294"	"1"	"00002"	"00002"	"2020-12-22 15:06:46"	""	""	"PCR"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{geneid}}"
"0000000309"	"TYK2"


## 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 = 3
"{{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}}"
"0000001404"	"3"	"90"	"19"	"10362257"	"10362257"	"subst"	"0"	"00002"	"TYK2_000001"	"g.10362257A>G"	"26/80"	"{PMID:L H Lian et al. (2013):23408403}, {dbSNP:rs280519}, {ClinVar:259041}"	""	""	"rs280519"
"0000001405"	"0"	"10"	"19"	"10362257"	"10362257"	"subst"	"0"	"00002"	"TYK2_000001"	"g.10362257A>G"	"41/80"	"{PMID:L H Lian et al. (2013):23408403}, {dbSNP:rs280519}, {ClinVar:259041}"	""	""	"rs280519"
"0000001406"	"0"	"10"	"19"	"10364976"	"10364976"	"subst"	"0"	"00002"	"TYK2_000002"	"g.10364976C>A"	"42/80"	"{PMID:L H Lian et al. (2013):23408403}, {dbSNP:rs2304256}, {ClinVar:259040}"	""	""	"rs2304256"


## 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 TYK2
## Count = 3
"{{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}}"
"0000001404"	"00000077"	"90"	"1669"	"7"	"1669"	"7"	"c.1669+7T>C"	""	"p.(=)"	"r.(=)"	""	""	"{ClinVar:259041}"
"0000001405"	"00000077"	"10"	"1669"	"7"	"1669"	"7"	"c.1669+7T>C"	""	"p.(=)"	"r.(=)"	""	""	"{ClinVar:259041}"
"0000001406"	"00000077"	"10"	"1084"	"0"	"1084"	"0"	"c.1084G>T"	""	"p.(Val362Phe)"	"r.(?)"	""	""	"{ClinVar:259040}"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{variantid}}"
"0000000309"	"0000001404"
"0000000309"	"0000001405"
"0000000309"	"0000001406"