### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = GATA1)
# 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}}"
"GATA1"	"GATA binding protein 1"	"X"	"p11.23"	"unknown"	"LRG_559"	"UD_144420447426"	""	""	""	"1"	"4170"	"2623"	"305371"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2020-12-13 16:07:50"	""	""	"00005"	"2021-09-13 12:02:58"


## 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}}"
"00000064"	"GATA1"	"GATA binding protein 1"	"004"	"NM_002049.3"	""	"NP_002040.1"	""	""	""	"-91"	"1389"	"1242"	"48786574"	"48794311"	"00001"	"2020-12-13 16:09:09"	""	""


## 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}}"
"00042"	"DS"	"Down Syndrome"	"IC"	"190685"	""	""	""	"00001"	"2020-12-13 16:06:38"	"00001"	"2021-04-05 14:38:17"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"GATA1"	"00042"


## 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}}"
"00000247"	""	""	""	"1"	""	"00002"	"{PMID:Su Han Lum et al. (2016):27353457}"	""	""	"Malaysia"	""	""	""
"00000248"	""	""	""	"1"	""	"00002"	"{PMID:Su Han Lum et al. (2016):27353457}"	""	""	"Malaysia"	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}"	"{{diseaseid}}"
"00000247"	"00042"
"00000248"	"00042"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00042
## Count = 2
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Inheritance}}"
"0000000128"	"00042"	"00000247"	"00002"	"Associated with transient abnormal myelopoiesis (TAM)"	""
"0000000129"	"00042"	"00000248"	"00002"	"Associated with  myeloid leukemia of DS (ML-DS)"	""


## 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}}"
"0000000262"	"00000247"	"1"	"00002"	"00002"	"2020-12-13 16:18:20"	""	""	"PCR"	"DNA"
"0000000263"	"00000248"	"1"	"00002"	"00002"	"2020-12-13 16:44:16"	""	""	"PCR"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{geneid}}"
"0000000262"	"GATA1"
"0000000263"	"GATA1"


## 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 = 13
"{{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}}"
"0000001246"	"0"	"90"	"X"	"48791329"	"48791329"	"subst"	"0"	"00002"	"GATA1_000001"	"g.48791329G>T"	"1/6"	"{PMID:Su Han Lum et al. (2016):27353457}"	""	""	"rs587783073"
"0000001247"	"0"	"90"	"X"	"48791214"	"48791215"	"ins"	"0"	"00002"	"GATA1_000002"	"g.48791214_48791215insC"	"1/6"	"{PMID:Su Han Lum et al. (2016):27353457}"	""	""	""
"0000001248"	"0"	"90"	"X"	"48791259"	"48791259"	"del"	"0"	"00002"	"GATA1_000003"	"g.48791259delG"	"1/6"	"{PMID:Su Han Lum et al. (2016):27353457}"	""	""	""
"0000001249"	"0"	"90"	"X"	"48791114"	"48791123"	"del"	"0"	"00002"	"GATA1_000004"	"g.48791114_48791123del"	"1/6"	"{PMID:Su Han Lum et al. (2016):27353457}"	"c.5_14delAGTTCCCTGC"	""	""
"0000001250"	"0"	"90"	"X"	"48791292"	"48791296"	"del"	"0"	"00002"	"GATA1_000005"	"g.48791292_48791296delCTACT"	"1/6"	"{PMID:Su Han Lum et al. (2016):27353457}"	""	""	""
"0000001251"	"0"	"90"	"X"	"48791325"	"48791328"	"delins"	"0"	"00002"	"GATA1_000006"	"g.48791325_48791328delinsTG"	"1/6"	"{PMID:Su Han Lum et al. (2016):27353457}"	""	""	""
"0000001252"	"0"	"90"	"X"	"48791202"	"48791203"	"del"	"0"	"00002"	"GATA1_000007"	"g.48791202_48791203delGG"	"1/9"	"{PMID:Su Han Lum et al. (2016):27353457}"	""	""	""
"0000001253"	"0"	"90"	"X"	"48791285"	"48791286"	"ins"	"0"	"00002"	"GATA1_000008"	"g.48791285_48791286insCAGGTGCG"	"1/9"	"{PMID:Su Han Lum et al. (2016):27353457}"	""	""	""
"0000001254"	"0"	"90"	"X"	"48791185"	"48791186"	"del"	"0"	"00002"	"GATA1_000009"	"g.48791185_48791186delTC"	"1/9"	"{PMID:Su Han Lum et al. (2016):27353457}"	""	""	""
"0000001255"	"0"	"90"	"X"	"48786645"	"48786645"	"subst"	"0"	"00002"	"GATA1_000010"	"g.48786645G>A"	"1/9"	"{PMID:Su Han Lum et al. (2016):27353457}"	""	""	"rs753502884"
"0000001256"	"0"	"90"	"X"	"48791296"	"48791297"	"ins"	"0"	"00002"	"GATA1_000011"	"g.48791296_48791297insT"	"1/9"	"{PMID:Su Han Lum et al. (2016):27353457}"	""	""	""
"0000001257"	"0"	"90"	"X"	"48791198"	"48791258"	"dup"	"0"	"00002"	"GATA1_000012"	"g.48791198_48791258dup"	"1/9"	"{PMID:Su Han Lum et al. (2016):27353457}"	"c. 89_149dup71"	""	""
"0000001258"	"0"	"90"	"X"	"48791329"	"48791329"	"subst"	"0"	"00002"	"GATA1_000013"	"g.48791329G>A"	"1/9"	"{PMID:Su Han Lum et al. (2016):27353457}"	""	""	"rs768438726"


## 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 GATA1
## Count = 13
"{{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}}"
"0000001246"	"00000064"	"90"	"220"	"0"	"220"	"0"	"c.220G>T"	""	"p.(Val74Phe)"	"r.(?)"	""	""	""
"0000001247"	"00000064"	"90"	"105"	"0"	"106"	"0"	"c.105_106insC"	""	"p.(Ser36Leufs*4)"	"r.(?)"	""	""	""
"0000001248"	"00000064"	"90"	"150"	"0"	"150"	"0"	"c.150delG"	""	"p.(Ser51Alafs*86)"	"r.(?)"	""	""	""
"0000001249"	"00000064"	"90"	"5"	"0"	"14"	"0"	"c.5_14del"	""	"p.(Glu2Alafs*132)"	"r.(?)"	""	""	""
"0000001250"	"00000064"	"90"	"183"	"0"	"187"	"0"	"c.183_187delCTACT"	""	"p.(Tyr62Glnfs*4)"	"r.(?)"	""	""	""
"0000001251"	"00000064"	"90"	"216"	"0"	"219"	"0"	"c.216_219delinsTG"	""	"p.(Pro73Glyfs*88)"	"r.(?)"	""	""	""
"0000001252"	"00000064"	"90"	"93"	"0"	"94"	"0"	"c.93_94delGG"	""	"p.(Val32Phefs*7)"	"r.(?)"	""	""	""
"0000001253"	"00000064"	"90"	"176"	"0"	"177"	"0"	"c.176_177insCAGGTGCG"	""	"p.(Leu60Argfs*80)"	"r.(?)"	""	""	""
"0000001254"	"00000064"	"90"	"76"	"0"	"77"	"0"	"c.76_77delTC"	""	"p.(Ser26Hisfs*13)"	"r.(?)"	""	""	""
"0000001255"	"00000064"	"90"	"-20"	"0"	"-20"	"0"	"c.-20G>A"	""	"p.(=)"	"r.(=)"	""	""	""
"0000001256"	"00000064"	"90"	"187"	"0"	"188"	"0"	"c.187_188insT"	""	"p.(Tyr63Leufs*5)"	"r.(?)"	""	""	""
"0000001257"	"00000064"	"90"	"89"	"0"	"149"	"0"	"c.89_149dup"	""	"p.(Ser51Argfs*9)"	"r.(?)"	""	""	""
"0000001258"	"00000064"	"90"	"220"	"0"	"220"	"0"	"c.220G>A"	""	"p.(Val74Ile)"	"r.(?)"	""	""	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 13
"{{screeningid}}"	"{{variantid}}"
"0000000262"	"0000001246"
"0000000262"	"0000001247"
"0000000262"	"0000001248"
"0000000262"	"0000001249"
"0000000262"	"0000001250"
"0000000262"	"0000001251"
"0000000263"	"0000001252"
"0000000263"	"0000001253"
"0000000263"	"0000001254"
"0000000263"	"0000001255"
"0000000263"	"0000001256"
"0000000263"	"0000001257"
"0000000263"	"0000001258"