### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CHEK2)
# 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}}"
"CHEK2"	"checkpoint kinase 2"	"22"	"q12.1"	"unknown"	"NG_008150.2"	"UD_144413691124"	""	""	""	"1"	"16627"	"11200"	"604373"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2020-11-16 16:59:04"	""	""	"00006"	"2021-08-23 10:46:53"


## 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}}"
"00000037"	"CHEK2"	"transcript variant 1"	"005"	"NM_007194.3"	""	"NP_009125.1"	""	""	""	"-72"	"1786"	"1632"	"28741834"	"28687743"	"00001"	"2020-11-16 16:59:35"	""	""


## 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}}"
"00021"	"-"	"Breast cancer"	"AD;SMu"	"114480"	"breast"	""	""	"00001"	"2020-11-05 12:11:17"	"00001"	"2021-04-07 14:45:56"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"CHEK2"	"00021"


## Individuals ## Do not remove or alter this header ##
## Count = 4
"{{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}}"
"00000152"	""	""	""	"1"	""	"00002"	"{PMID:Suriati Mohamad et al. (2015):25629968}"	""	""	"Malaysia"	"Malay"	""	""
"00000153"	""	""	""	"1"	""	"00002"	"{PMID:Suriati Mohamad et al. (2015):25629968}"	""	""	"Malaysia"	"Indian"	""	""
"00000154"	""	""	""	"1"	""	"00002"	"{PMID:Suriati Mohamad et al. (2015):25629968}"	""	""	"Malaysia"	"Chinese"	""	""
"00000160"	""	""	""	"1"	""	"00002"	"{PMID:P S Ng et al. (2016):26757417}"	""	""	"Malaysia"	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{individualid}}"	"{{diseaseid}}"
"00000152"	"00021"
"00000153"	"00021"
"00000154"	"00021"
"00000160"	"00021"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00021
## Count = 3
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Inheritance}}"
"0000000065"	"00021"	"00000152"	"00002"	""	""
"0000000066"	"00021"	"00000153"	"00002"	""	""
"0000000067"	"00021"	"00000154"	"00002"	""	""


## 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}}"
"0000000167"	"00000152"	"1"	"00002"	"00002"	"2020-11-17 14:22:31"	""	""	"SEQ"	"DNA"
"0000000168"	"00000153"	"1"	"00002"	"00002"	"2020-11-17 14:33:33"	""	""	"SEQ"	"DNA"
"0000000169"	"00000154"	"1"	"00002"	"00002"	"2020-11-17 14:37:28"	""	""	"SEQ"	"DNA"
"0000000175"	"00000160"	"1"	"00002"	"00002"	"2020-11-18 16:41:43"	""	""	"SEQ-NG"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}"	"{{geneid}}"
"0000000167"	"CHEK2"
"0000000168"	"CHEK2"
"0000000169"	"CHEK2"
"0000000175"	"CHEK2"


## 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 = 7
"{{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}}"
"0000000780"	"0"	"00"	"22"	"28725089"	"28725089"	"subst"	"0"	"00002"	"CHEK2_000001"	"g.28725089T>C"	"1/4"	"{PMID:Suriati Mohamad et al. (2015):25629968}{dbSNP:rs575910805}"	""	""	"rs575910805"
"0000000781"	"0"	"00"	"22"	"28725031"	"28725031"	"subst"	"0"	"00002"	"CHEK2_000002"	"g.28725031G>A"	"3/4"	"{PMID:Suriati Mohamad et al. (2015):25629968}{dbSNP:rs77130927}"	""	""	"rs77130927"
"0000000782"	"0"	"00"	"22"	"28725089"	"28725089"	"subst"	"0"	"00002"	"CHEK2_000001"	"g.28725089T>C"	"2"	"{PMID:Suriati Mohamad et al. (2015):25629968}{dbSNP:rs575910805}"	""	""	"rs575910805"
"0000000783"	"0"	"00"	"22"	"28725031"	"28725031"	"subst"	"0"	"00002"	"CHEK2_000002"	"g.28725031G>A"	"2"	"{PMID:Suriati Mohamad et al. (2015):25629968}{dbSNP:rs77130927}"	""	""	"rs77130927"
"0000000790"	"0"	"70"	"22"	"28695769"	"28695769"	"del"	"0"	"00002"	"CHEK2_000003"	"g.28695769delC"	"1/3"	"{PMID:P S Ng et al. (2016):26757417}"	"T401fs"	""	""
"0000000791"	"0"	"70"	"22"	"28695734"	"28695758"	"del"	"0"	"00002"	"CHEK2_000004"	"g.28695734_28695758del"	"1/3"	"{PMID:P S Ng et al. (2016):26757417}"	"Y404fs"	""	""
"0000000792"	"0"	"00"	"22"	"28725031"	"28725031"	"subst"	"0"	"00002"	"CHEK2_000002"	"g.28725031G>A"	"1/3"	"{PMID:P S Ng et al. (2016):26757417}{dbSNP:rs77130927}"	"R180C"	""	"rs77130927"


## 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 CHEK2
## Count = 7
"{{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}}"
"0000000780"	"00000037"	"00"	"480"	"0"	"480"	"0"	"c.480A>G"	"3"	"p.(Ile160Met)"	"r.(?)"	""	""	"{ClinVar:128077}"
"0000000781"	"00000037"	"00"	"538"	"0"	"538"	"0"	"c.538C>T"	"3"	"p.(Arg180Cys)"	"r.(?)"	""	""	"{ClinVar:128081}"
"0000000782"	"00000037"	"00"	"480"	"0"	"480"	"0"	"c.480A>G"	"3"	"p.(Ile160Met)"	"r.(?)"	""	""	"{ClinVar:128077}"
"0000000783"	"00000037"	"00"	"538"	"0"	"538"	"0"	"c.538C>T"	"3"	"p.(Arg180Cys)"	"r.(?)"	""	""	"{ClinVar:128081}"
"0000000790"	"00000037"	"70"	"1200"	"0"	"1200"	"0"	"c.1200delG"	"11"	"p.(Thr401Leufs*13)"	"r.(?)"	""	""	""
"0000000791"	"00000037"	"70"	"1211"	"0"	"1235"	"0"	"c.1211_1235del"	"11"	"p.(Tyr404Phefs*2)"	"r.(?)"	""	""	""
"0000000792"	"00000037"	"00"	"538"	"0"	"538"	"0"	"c.538C>T"	"4"	"p.(Arg180Cys)"	"r.(?)"	""	""	"{ClinVar:128081}"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 7
"{{screeningid}}"	"{{variantid}}"
"0000000167"	"0000000780"
"0000000167"	"0000000781"
"0000000168"	"0000000782"
"0000000169"	"0000000783"
"0000000175"	"0000000790"
"0000000175"	"0000000791"
"0000000175"	"0000000792"