### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = MCF2L)
# 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}}"
"MCF2L"	"MCF.2 cell line derived transforming sequence-like"	"13"	"q34"	"unknown"	"NC_000013.10"	"UD_132465617164"	""	"http://www.LOVD.nl/MCF2L"	""	"1"	"14576"	"23263"	"609499"	"1"	"1"	"1"	"1"	""	""	"g"	"http://databases.lovd.nl/shared/refseq/MCF2L_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2014-12-23 12:44:07"	"00000"	"2024-08-28 13:16:32"


## 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}}"
"00011897"	"MCF2L"	"transcript variant 1"	"001"	"NM_001112732.2"	""	"NP_001106203.2"	""	""	""	"-159"	"6258"	"3378"	"113623535"	"113754053"	""	"0000-00-00 00:00:00"	""	""


## 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}}"
"02760"	"MCI1"	"myocardial infarction, susceptibility to, type 1 (MCI-1)"	""	"608446"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"


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


## Individuals ## Do not remove or alter this header ##
## Count = 1
"{{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}}"
"00027153"	""	""	""	"1"	""	"01181"	""	""	"F"	"no"	"Netherlands"	""	"0"	""	""	"white"	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}"	"{{diseaseid}}"
"00027153"	"02760"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 02760
## Count = 1
"{{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}}"
"0000023246"	"02760"	"00027153"	"01181"	"Unknown"	""	"AMI and PTCA at39y"	""	""	""	""	""	""	""	""	""


## 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}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000027156"	"00027153"	"1"	"01181"	"01181"	"2014-12-22 13:49:22"	""	""	"SEQ;SEQ-NG-I"	"DNA"	"DNA from blood"	""


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


## 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 = 21
"{{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}}"
"0000050281"	"1"	"50"	"13"	"113739210"	"113739210"	"subst"	"0"	"01181"	"MCF2L_000001"	"g.113739210A>G"	""	""	""	""	"patient has 4 carrier sibs (F, 3M) with variant and same premature MI phenotype and an unaffected sib without variant and phenotype"	"Germline"	"yes"	""	"0"	""	""	"g.113084896A>G"	""	"VUS"	""
"0000291594"	"0"	"50"	"13"	"113729327"	"113729327"	"subst"	"0"	"01943"	"MCF2L_000002"	"g.113729327G>C"	""	""	""	"MCF2L(NM_024979.4):c.1126G>C (p.A376P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.113075013G>C"	""	"VUS"	""
"0000549852"	"0"	"30"	"13"	"113634043"	"113634043"	"subst"	"0"	"01943"	"MCF2L_000003"	"g.113634043G>A"	""	""	""	"MCF2L(NM_001320816.1):c.62G>A (p.R21H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.112979729G>A"	""	"likely benign"	""
"0000549854"	"0"	"50"	"13"	"113748906"	"113748906"	"subst"	"0.000102285"	"01943"	"MCF2L_000005"	"g.113748906C>T"	""	""	""	"MCF2L(NM_001320816.1):c.3044C>T (p.S1015L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.113094592C>T"	""	"VUS"	""
"0000614504"	"0"	"50"	"13"	"113718714"	"113718714"	"subst"	"1.6326E-5"	"01943"	"MCF2L_000007"	"g.113718714C>T"	""	""	""	"MCF2L(NM_001320815.1):c.580C>T (p.R194W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.113064400C>T"	""	"VUS"	""
"0000614505"	"0"	"50"	"13"	"113744010"	"113744010"	"subst"	"4.06293E-5"	"01943"	"MCF2L_000009"	"g.113744010C>T"	""	""	""	"MCF2L(NM_001112732.3):c.2921C>T (p.A974V), MCF2L(NM_001320815.1):c.2915C>T (p.A972V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.113089696C>T"	""	"VUS"	""
"0000623025"	"0"	"50"	"13"	"113729487"	"113729487"	"subst"	"0"	"01943"	"MCF2L_000008"	"g.113729487A>C"	""	""	""	"MCF2L(NM_001320815.1):c.1286A>C (p.H429P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.113075173A>C"	""	"VUS"	""
"0000679722"	"0"	"30"	"13"	"113679077"	"113679077"	"subst"	"0.000373719"	"01943"	"MCF2L_000010"	"g.113679077G>A"	""	""	""	"MCF2L(NM_001366644.1):c.191+5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000679723"	"0"	"30"	"13"	"113699673"	"113699673"	"subst"	"0.000118087"	"01804"	"MCF2L_000011"	"g.113699673G>A"	""	""	""	"MCF2L(NM_001112732.2):c.367G>A (p.(Ala123Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000679724"	"0"	"30"	"13"	"113714984"	"113714984"	"subst"	"9.35043E-5"	"01943"	"MCF2L_000012"	"g.113714984C>A"	""	""	""	"MCF2L(NM_001112732.3):c.447C>A (p.I149=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000679725"	"0"	"30"	"13"	"113739390"	"113739390"	"subst"	"0.00101546"	"01943"	"MCF2L_000013"	"g.113739390T>G"	""	""	""	"MCF2L(NM_001320815.1):c.2149-10T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000679726"	"0"	"30"	"13"	"113742871"	"113742871"	"subst"	"0.000238854"	"01943"	"MCF2L_000014"	"g.113742871C>T"	""	""	""	"MCF2L(NM_001112732.3):c.2768-5C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000679727"	"0"	"30"	"13"	"113744026"	"113744026"	"subst"	"0.0023772"	"01943"	"MCF2L_000015"	"g.113744026C>T"	""	""	""	"MCF2L(NM_001320815.1):c.2931C>T (p.P977=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000724359"	"0"	"30"	"13"	"113699172"	"113699172"	"subst"	"0"	"01943"	"MCF2L_000016"	"g.113699172C>G"	""	""	""	"MCF2L(NM_001112732.3):c.279-413C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000724360"	"0"	"50"	"13"	"113736779"	"113736779"	"subst"	"0.000942285"	"01943"	"MCF2L_000017"	"g.113736779C>A"	""	""	""	"MCF2L(NM_001366644.1):c.1827C>A (p.H609Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000724361"	"0"	"30"	"13"	"113741770"	"113741770"	"subst"	"0.00316237"	"01943"	"MCF2L_000018"	"g.113741770C>T"	""	""	""	"MCF2L(NM_001366644.1):c.2508C>T (p.N836=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000806020"	"0"	"30"	"13"	"113729304"	"113729304"	"subst"	"0"	"01943"	"MCF2L_000019"	"g.113729304G>C"	""	""	""	"MCF2L(NM_001366644.1):c.1030-8G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000806021"	"0"	"30"	"13"	"113740571"	"113740571"	"subst"	"0.00103375"	"01943"	"MCF2L_000020"	"g.113740571G>A"	""	""	""	"MCF2L(NM_024979.4):c.2367+8G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000853581"	"0"	"50"	"13"	"113731460"	"113731460"	"subst"	"1.25087E-5"	"01943"	"MCF2L_000021"	"g.113731460C>T"	""	""	""	"MCF2L(NM_001366644.1):c.1508C>T (p.T503M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000863224"	"0"	"30"	"13"	"113741710"	"113741710"	"subst"	"0"	"01943"	"MCF2L_000022"	"g.113741710G>A"	""	""	""	"MCF2L(NM_001320815.1):c.2529G>A (p.R843=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000863225"	"0"	"30"	"13"	"113742652"	"113742652"	"subst"	"0"	"01943"	"MCF2L_000023"	"g.113742652T>G"	""	""	""	"MCF2L(NM_001366644.1):c.2613T>G (p.P871=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""


## 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 MCF2L
## Count = 21
"{{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}}"
"0000050281"	"00011897"	"50"	"2066"	"0"	"2066"	"0"	"c.2066A>G"	"r.(?)"	"p.(Glu689Gly)"	"19"
"0000291594"	"00011897"	"50"	"1132"	"0"	"1132"	"0"	"c.1132G>C"	"r.(?)"	"p.(Ala378Pro)"	""
"0000549852"	"00011897"	"30"	"79"	"10271"	"79"	"10271"	"c.79+10271G>A"	"r.(=)"	"p.(=)"	""
"0000549854"	"00011897"	"50"	"3032"	"0"	"3032"	"0"	"c.3032C>T"	"r.(?)"	"p.(Ser1011Leu)"	""
"0000614504"	"00011897"	"50"	"586"	"0"	"586"	"0"	"c.586C>T"	"r.(?)"	"p.(Arg196Trp)"	""
"0000614505"	"00011897"	"50"	"2921"	"0"	"2921"	"0"	"c.2921C>T"	"r.(?)"	"p.(Ala974Val)"	""
"0000623025"	"00011897"	"50"	"1292"	"0"	"1292"	"0"	"c.1292A>C"	"r.(?)"	"p.(His431Pro)"	""
"0000679722"	"00011897"	"30"	"278"	"5"	"278"	"5"	"c.278+5G>A"	"r.spl?"	"p.?"	""
"0000679723"	"00011897"	"30"	"367"	"0"	"367"	"0"	"c.367G>A"	"r.(?)"	"p.(Ala123Thr)"	""
"0000679724"	"00011897"	"30"	"447"	"0"	"447"	"0"	"c.447C>A"	"r.(?)"	"p.(Ile149=)"	""
"0000679725"	"00011897"	"30"	"2155"	"-10"	"2155"	"-10"	"c.2155-10T>G"	"r.(=)"	"p.(=)"	""
"0000679726"	"00011897"	"30"	"2768"	"-5"	"2768"	"-5"	"c.2768-5C>T"	"r.spl?"	"p.?"	""
"0000679727"	"00011897"	"30"	"2937"	"0"	"2937"	"0"	"c.2937C>T"	"r.(?)"	"p.(Pro979=)"	""
"0000724359"	"00011897"	"30"	"279"	"-413"	"279"	"-413"	"c.279-413C>G"	"r.(=)"	"p.(=)"	""
"0000724360"	"00011897"	"50"	"1914"	"0"	"1914"	"0"	"c.1914C>A"	"r.(?)"	"p.(His638Gln)"	""
"0000724361"	"00011897"	"30"	"2595"	"0"	"2595"	"0"	"c.2595C>T"	"r.(?)"	"p.(Asn865=)"	""
"0000806020"	"00011897"	"30"	"1117"	"-8"	"1117"	"-8"	"c.1117-8G>C"	"r.(=)"	"p.(=)"	""
"0000806021"	"00011897"	"30"	"2373"	"8"	"2373"	"8"	"c.2373+8G>A"	"r.(=)"	"p.(=)"	""
"0000853581"	"00011897"	"50"	"1595"	"0"	"1595"	"0"	"c.1595C>T"	"r.(?)"	"p.(Thr532Met)"	""
"0000863224"	"00011897"	"30"	"2535"	"0"	"2535"	"0"	"c.2535G>A"	"r.(?)"	"p.(Arg845=)"	""
"0000863225"	"00011897"	"30"	"2700"	"0"	"2700"	"0"	"c.2700T>G"	"r.(?)"	"p.(Pro900=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{variantid}}"
"0000027156"	"0000050281"