### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SYNE1)
# 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}}"
"SYNE1"	"spectrin repeat containing nuclear envelope protein 1"	"6"	"q25.2"	"unknown"	"NG_012855.2"	"UD_144437677997"	""	""	""	"1"	"17089"	"23345"	"608441"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2020-11-25 14:14:22"	""	""	"00006"	"2021-09-08 15:39:48"


## 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}}"
"00000044"	"SYNE1"	"transcript variant 1"	"001"	"NM_182961.3"	""	"NP_892006.3"	""	""	""	"-602"	"27146"	"26394"	"152637399"	"152121684"	"00001"	"2020-11-25 14:15:08"	""	""


## 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}}"
"00021"	"-"	"Breast cancer"	"AD;SMu"	"114480"	"breast"	""	""	"00001"	"2020-11-05 12:11:17"	"00001"	"2021-04-07 14:45:56"
"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}}"
"SYNE1"	"00028"


## Individuals ## Do not remove or alter this header ##
## Count = 3
"{{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}}"
"00000188"	""	""	""	"1"	""	"00002"	"{PMID:Shafina-Nadiawati Abdul et al. (2017):28769798}"	""	""	"Malaysia"	""	""	"F"
"00000189"	""	""	""	"1"	""	"00002"	"{PMID:Shafina-Nadiawati Abdul et al. (2017):28769798}"	""	""	"Malaysia"	""	""	"M"
"00000190"	""	""	""	"1"	""	"00002"	"{DOI:Yock Ping Chow et al. (2018):10.36877/pmmb.a0000014}"	""	""	"Malaysia"	""	""	"F"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}"	"{{diseaseid}}"
"00000188"	"00028"
"00000189"	"00028"
"00000190"	"00021"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00021, 00028
## Count = 2
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Inheritance}}"
"0000000130"	"00028"	"00000188"	"00002"	"Somatic alterations in Dukes\' B and C"	""
"0000000131"	"00028"	"00000189"	"00002"	"Somatic alterations in Dukes\' B and C"	""


## Screenings ## Do not remove or alter this header ##
## Count = 3
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"
"0000000203"	"00000188"	"1"	"00002"	"00002"	"2020-11-25 14:35:02"	""	""	"PCR;SEQ;Western"	"DNA"
"0000000204"	"00000189"	"1"	"00002"	"00002"	"2020-11-25 14:59:01"	""	""	"PCR;SEQ;Western"	"DNA"
"0000000205"	"00000190"	"1"	"00002"	"00002"	"2020-11-25 16:09:12"	""	""	"PCR;SEQ"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000000203"	"SYNE1"
"0000000204"	"SYNE1"
"0000000205"	"SYNE1"


## 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 = 11
"{{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}}"
"0000000928"	"0"	"90"	"6"	"152155028"	"152155028"	"subst"	"0"	"00002"	"SYNE1_000001"	"g.152155028C>T"	"1/9"	"{PMID:Shafina-Nadiawati Abdul et al. (2017):28769798}"	"W7998*"	""	""
"0000000929"	"0"	"90"	"6"	"152416940"	"152416940"	"subst"	"0"	"00002"	"SYNE1_000002"	"g.152416940G>C"	"1/9"	"{PMID:Shafina-Nadiawati Abdul et al. (2017):28769798}"	"L1833V"	""	"rs1194139877"
"0000000930"	"0"	"90"	"6"	"152435989"	"152435989"	"subst"	"0"	"00002"	"SYNE1_000003"	"g.152435989T>G"	"1/9"	"{PMID:Shafina-Nadiawati Abdul et al. (2017):28769798}"	"K1421T"	""	"rs1603482879"
"0000000931"	"0"	"90"	"6"	"152462787"	"152462787"	"subst"	"0"	"00002"	"SYNE1_000004"	"g.152462787G>A"	"1/9"	"{PMID:Shafina-Nadiawati Abdul et al. (2017):28769798}"	"P734L"	""	"rs368462762"
"0000000932"	"0"	"90"	"6"	"152520514"	"152520514"	"subst"	"0"	"00002"	"SYNE1_000005"	"g.152520514C>A"	"1/9"	"{PMID:Shafina-Nadiawati Abdul et al. (2017):28769798}"	"R85L"	""	"rs74315418"
"0000000933"	"0"	"90"	"6"	"152219094"	"152219094"	"subst"	"0"	"00002"	"SYNE1_000006"	"g.152219094G>T"	"1/9"	"{PMID:Shafina-Nadiawati Abdul et al. (2017):28769798}"	"A7318E"	""	""
"0000000934"	"0"	"90"	"6"	"152526115"	"152526115"	"subst"	"0"	"00002"	"SYNE1_000007"	"g.152526115G>A"	"1/9"	"{PMID:Shafina-Nadiawati Abdul et al. (2017):28769798}"	"L64F"	""	"rs144313495"
"0000000935"	"0"	"50"	"6"	"152505243"	"152505243"	"subst"	"0"	"00002"	"SYNE1_000008"	"g.152505243C>T"	"1/9"	"{PMID:Shafina-Nadiawati Abdul et al. (2017):28769798}{dbSNP:rs1251834592}"	"A246T"	""	"rs1251834592"
"0000000936"	"0"	"90"	"6"	"152176442"	"152176442"	"subst"	"0"	"00002"	"SYNE1_000009"	"g.152176442C>T"	"1/9"	"{PMID:Shafina-Nadiawati Abdul et al. (2017):28769798}"	"G7860E"	""	""
"0000000937"	"0"	"50"	"6"	"152224547"	"152224547"	"subst"	"0"	"00002"	"SYNE1_000010"	"g.152224547G>A"	"1"	"{PMID:Shafina-Nadiawati Abdul et al. (2017):28769798}{dbSNP:rs757688642}"	"R7157C"	""	"rs757688642"
"0000000938"	"0"	"00"	"6"	"152219143"	"152219143"	"subst"	"0"	"00002"	"SYNE1_000011"	"g.152219143A>C"	"1/2"	"{dbSNP:rs2147377}, {ClinVar:130419}"	"F7302fs"	""	"rs2147377"


## 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 SYNE1
## Count = 11
"{{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}}"
"0000000928"	"00000044"	"90"	"23993"	"0"	"23993"	"0"	"c.23993G>A"	"132"	"p.(Trp7998*)"	"r.(?)"	""	""	""
"0000000929"	"00000044"	"90"	"5497"	"0"	"5497"	"0"	"c.5497C>G"	"41"	"p.(Leu1833Val)"	"r.(?)"	""	""	""
"0000000930"	"00000044"	"90"	"4262"	"0"	"4262"	"0"	"c.4262A>C"	"33"	"p.(Lys1421Thr)"	"r.(?)"	""	""	""
"0000000931"	"00000044"	"90"	"2201"	"0"	"2201"	"0"	"c.2201C>T"	"20"	"p.(Pro734Leu)"	"r.(?)"	""	""	""
"0000000932"	"00000044"	"90"	"254"	"0"	"254"	"0"	"c.254G>T"	"5"	"p.(Arg85Leu)"	"r.(?)"	""	""	""
"0000000933"	"00000044"	"90"	"21953"	"0"	"21953"	"0"	"c.21953C>A"	"119"	"p.(Ala7318Glu)"	"r.(?)"	""	""	""
"0000000934"	"00000044"	"90"	"190"	"0"	"190"	"0"	"c.190C>T"	"4"	"p.(Leu64Phe)"	"r.(?)"	""	""	""
"0000000935"	"00000044"	"50"	"736"	"0"	"736"	"0"	"c.736G>A"	"9"	"p.(Ala246Thr)"	"r.(?)"	""	""	"{ClinVar:448610}"
"0000000936"	"00000044"	"90"	"23579"	"0"	"23579"	"0"	"c.23579G>A"	"129"	"p.(Gly7860Glu)"	"r.(?)"	""	""	""
"0000000937"	"00000044"	"50"	"21469"	"0"	"21469"	"0"	"c.21469C>T"	"116"	"p.(Arg7157Cys)"	"r.(?)"	""	""	"{ClinVar:576512}"
"0000000938"	"00000044"	"00"	"21904"	"0"	"21904"	"0"	"c.21904T>G"	"-"	"p.(Phe7302Val)"	"r.(?)"	""	""	"{ClinVar:130419}"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 11
"{{screeningid}}"	"{{variantid}}"
"0000000203"	"0000000928"
"0000000203"	"0000000929"
"0000000203"	"0000000930"
"0000000203"	"0000000931"
"0000000203"	"0000000932"
"0000000203"	"0000000933"
"0000000203"	"0000000934"
"0000000203"	"0000000935"
"0000000203"	"0000000936"
"0000000204"	"0000000937"
"0000000205"	"0000000938"