### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = EGFR)
# 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}}"
"EGFR"	"epidermal growth factor receptor"	"7"	"p11.2"	"unknown"	"LRG_304"	"UD_144417765793"	""	""	""	"1"	"3236"	"1956"	"131550"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2020-11-08 09:34:45"	""	""	"00006"	"2021-09-08 15:54:37"


## 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}}"
"00000028"	"EGFR"	"transcript variant 1"	"001"	"NM_005228.4"	""	"NP_005219.2"	""	""	""	"-257"	"6096"	"3633"	"55019021"	"55208080"	"00001"	"2020-11-08 09:36:23"	""	""


## 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}}"
"00022"	"HGSOC"	"high grade serous ovarian cancer"	""	""	""	""	""	"00001"	"2020-11-08 09:34:16"	""	""
"00028"	"CRC"	"colorectal , cancer"	""	""	""	""	""	"00001"	"2020-11-25 14:13:05"	"00001"	"2020-12-14 10:52:44"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"EGFR"	"00022"


## Individuals ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00000137"	""	""	""	"1"	""	"00002"	"{PMID:Nurul-Syakima Ab Mutalib et al. (2014):25404506}"	""	""	"Malaysia"	""	""	"F"
"00000255"	""	""	""	"1"	""	"00002"	"Chai Boon Lee et al. 2019 (https://medic.upm.edu.my/upload/dokumen/2019100109012514_MJMHS_0054.pdf)"	""	""	"Malaysia"	""	""	"M"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}"	"{{diseaseid}}"
"00000137"	"00022"
"00000255"	"00028"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00022, 00028
## Count = 0


## Screenings ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"
"0000000152"	"00000137"	"1"	"00002"	"00002"	"2020-11-08 10:36:25"	""	""	"SEQ-NG;PCR"	"DNA"
"0000000270"	"00000255"	"1"	"00002"	"00002"	"2020-12-14 11:27:44"	""	""	"IHC;SEQ-NG"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{geneid}}"
"0000000152"	"EGFR"
"0000000270"	"EGFR"


## 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 = 2
"{{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}}"
"0000000721"	"0"	"10"	"7"	"55181370"	"55181370"	"subst"	"0"	"00002"	"EGFR_000001"	"g.55181370G>A"	"6/9"	"{PMID:Nurul-Syakima Ab Mutalib et al. (2014):25404506}{dbSNP:rs1050171}"	"55249063G > A"	""	"rs1050171"
"0000001271"	"0"	"90"	"7"	"55173945"	"55173945"	"subst"	"0"	"00002"	"EGFR_000002"	"g.55173945G>A"	"1"	"Chai Boon Lee et al. 2019 (https://medic.upm.edu.my/upload/dokumen/2019100109012514_MJMHS_0054.pdf)"	"G696R"	""	"rs879254178"


## 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 EGFR
## Count = 2
"{{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}}"
"0000000721"	"00000028"	"10"	"2361"	"0"	"2361"	"0"	"c.2361G>A"	"-"	"p.(=)"	"r.(=)"	""	""	"{ClinVar:45271}"
"0000001271"	"00000028"	"90"	"2086"	"0"	"2086"	"0"	"c.2086G>A"	""	"p.(Gly696Arg)"	"r.(?)"	""	""	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{variantid}}"
"0000000152"	"0000000721"
"0000000270"	"0000001271"