##fileformat=VCFv4.0
##VEP=v76 cache=/data_ensembl/vep/grch37/release-76/homo_sapiens/76_GRCh37 db=homo_sapiens_core_76_37@ensembldb.ensembl.org
##INFO=<ID=CSQ,Number=.,Type=String,Description="Consequence type as predicted by VEP. Format: Allele|Gene|Feature|Feature_type|Consequence|cDNA_position|CDS_position|Protein_position|Amino_acids|Codons|Existing_variation|DISTANCE|STRAND|SYMBOL|SYMBOL_SOURCE|HGNC_ID|BIOTYPE|SIFT|PolyPhen|DOMAINS|HGVSc|HGVSp|GMAF|AFR_MAF|AMR_MAF|ASN_MAF|EUR_MAF|AA_MAF|EA_MAF|CLIN_SIG|SOMATIC|MOTIF_NAME|MOTIF_POS|HIGH_INF_POS|MOTIF_SCORE_CHANGE">
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO
6	30681076	.	TGAAGGCAAAAGGCGGCCCAAGGCCG	TC	.	.	CSQ=C|ENSG00000137337|ENST00000422266|Transcript|downstream_gene_variant|||||||656|-1|MDC1|HGNC||protein_coding||||||||||||||||||,C|ENSG00000137337|ENST00000376405|Transcript|feature_truncation|1058-1082|618-642|206-214|GGLGPPFAF/G|ggCGGCCTTGGGCCGCCTTTTGCCTTC/ggG|||-1|MDC1|HGNC||protein_coding||||ENST00000376405.2:c.618_642delCGGCCTTGGGCCGCCTTTTGCCTTCinsG|ENSP00000365587.2:p.Gly207_Phe214del|||||||||||||,C|ENSG00000137337|ENST00000425072|Transcript|downstream_gene_variant|||||||616|-1|MDC1|HGNC||protein_coding||||||||||||||||||,C|ENSG00000224328|ENST00000442150|Transcript|downstream_gene_variant|||||||116|1|MDC1-AS1|HGNC|39764|antisense||||||||||||||||||,C|ENSG00000137337|ENST00000417033|Transcript|upstream_gene_variant|||||||1386|-1|MDC1|HGNC||protein_coding||||||||||||||||||,C|ENSG00000137337|ENST00000376406|Transcript|feature_truncation|1266-1290|618-642|206-214|GGLGPPFAF/G|ggCGGCCTTGGGCCGCCTTTTGCCTTC/ggG|||-1|MDC1|HGNC|21163|protein_coding||||ENST00000376406.3:c.618_642delCGGCCTTGGGCCGCCTTTTGCCTTCinsG|ENSP00000365588.3:p.Gly207_Phe214del|||||||||||||,C|ENSG00000137337|ENST00000494654|Transcript|upstream_gene_variant|||||||1369|-1|MDC1|HGNC||processed_transcript||||||||||||||||||,C|ENSG00000137337|ENST00000416571|Transcript|downstream_gene_variant|||||||509|-1|MDC1|HGNC||protein_coding||||||||||||||||||
6	30954367	.	GACTCCAGCACAACC	GGG	.	.	CSQ=GG|ENSG00000204544|ENST00000376296|Transcript|feature_truncation|657-670|416-429|139-143|DSSTT/G|gACTCCAGCACAACC/gGG|||1|MUC21|HGNC||protein_coding|||Low_complexity_(Seg):Seg&PROSITE_profiles:PS50324&PROSITE_profiles:PS50325|ENST00000376296.3:c.416_429delACTCCAGCACAACCinsGG|ENSP00000365473.3:p.Asp139_Thr143delinsGly|||||||||||||,GG|ENSG00000204544|ENST00000486149|Transcript|5_prime_UTR_variant&feature_truncation|799-812|||||||1|MUC21|HGNC|21661|protein_coding||||ENST00000486149.2:c.-947_-934delACTCCAGCACAACCinsGG||||||||||||||
6	31165565	.	GTCGTG	GCCGTGGTGTTTCAA	.	.	CSQ=CCGTGGTGTTTCAA|ENSG00000206344|ENST00000414008|Transcript|upstream_gene_variant|||||||347|1|HCG27|HGNC||processed_transcript||||||||||||||||||,CCGTGGTGTTTCAA|ENSG00000272501|ENST00000606367|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|245-249|||||||-1|XXbac-BPG299F13.17|Clone_based_vega_gene||antisense||||ENST00000606367.1:n.245_249delCACGAinsTTGAAACACCACGG||||||||||||||,CCGTGGTGTTTCAA|ENSG00000206344|ENST00000424675|Transcript|upstream_gene_variant|||||||345|1|HCG27|HGNC||protein_coding||||||||||||||||||,CCGTGGTGTTTCAA|ENSG00000206344|ENST00000383331|Transcript|inframe_insertion|30-34|31-35|11-12|SW/PWCFK|TCGTGg/CCGTGGTGTTTCAAg|||1|HCG27|HGNC|27366|protein_coding||||ENST00000383331.4:c.30_34delTCGTGinsCCGTGGTGTTTCAA|ENSP00000453364.1:p.Ser11_Trp12delinsProTrpCysPheLys|||||||||||||,CCGTGGTGTTTCAA|ENSG00000206344|ENST00000415276|Transcript|upstream_gene_variant|||||||4220|1|HCG27|HGNC||processed_transcript||||||||||||||||||,CCGTGGTGTTTCAA|ENSG00000271821|ENST00000606909|Transcript|downstream_gene_variant|||||||2372|-1|XXbac-BPG299F13.14|Clone_based_vega_gene||lincRNA||||||||||||||||||,CCGTGGTGTTTCAA||ENSR00000487808|RegulatoryFeature|regulatory_region_variant||||||||||||||||||||||||||||||
6	31322923	.	CTCCGA	CGACCACAGCTACGG	.	.	CSQ=GACCACAGCTACGG|ENSG00000234745|ENST00000481849|Transcript|upstream_gene_variant|||||||341|-1|HLA-B|HGNC|4932|retained_intron||||||||||||||||||,GACCACAGCTACGG|ENSG00000234745|ENST00000463574|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|559-563|||||||-1|HLA-B|HGNC||retained_intron||||ENST00000463574.1:n.559_563delTCGGAinsCCGTAGCTGTGGTC||||||||||||||,GACCACAGCTACGG|ENSG00000234745|ENST00000412585|Transcript|inframe_insertion|997-1001|968-972|323-324|IG/TVAVV|aTCGGA/aCCGTAGCTGTGGTC|||-1|HLA-B|HGNC||protein_coding|||Low_complexity_(Seg):Seg&Transmembrane_helices:Tmhmm|ENST00000412585.2:c.968_972delTCGGAinsCCGTAGCTGTGGTC|ENSP00000399168.2:p.Ile323_Gly324delinsThrValAlaValVal|||||||||||||,GACCACAGCTACGG|ENSG00000234745|ENST00000498007|Transcript|downstream_gene_variant|||||||240|-1|HLA-B|HGNC||retained_intron||||||||||||||||||,GACCACAGCTACGG|ENSG00000234745|ENST00000497377|Transcript|upstream_gene_variant|||||||71|-1|HLA-B|HGNC||retained_intron||||||||||||||||||,GACCACAGCTACGG|ENSG00000234745|ENST00000474381|Transcript|downstream_gene_variant|||||||371|-1|HLA-B|HGNC||retained_intron||||||||||||||||||,GACCACAGCTACGG|ENSG00000234745|ENST00000434333|Transcript|downstream_gene_variant|||||||356|-1|HLA-B|HGNC||protein_coding||||||||||||||||||,GACCACAGCTACGG|ENSG00000271581|ENST00000603274|Transcript|upstream_gene_variant|||||||1496|1|XXbac-BPG248L24.12|Clone_based_vega_gene||unprocessed_pseudogene||||||||||||||||||
6	31324522	.	GTGCCTGGGCCTTGTAGATCTGTG	GCGCGGAGGCCTTCA	.	.	CSQ=CGCGGAGGCCTTCA|ENSG00000234745|ENST00000481849|Transcript|upstream_gene_variant|||||||1940|-1|HLA-B|HGNC|4932|retained_intron||||||||||||||||||,CGCGGAGGCCTTCA|ENSG00000234745|ENST00000463574|Transcript|upstream_gene_variant|||||||944|-1|HLA-B|HGNC||retained_intron||||||||||||||||||,CGCGGAGGCCTTCA|ENSG00000234745|ENST00000412585|Transcript|feature_truncation|292-314|263-285|88-95|TQIYKAQA/MKASA|aCACAGATCTACAAGGCCCAGGCA/aTGAAGGCCTCCGCG|||-1|HLA-B|HGNC||protein_coding|||Pfam_domain:PF00129&Prints_domain:PR01638&Superfamily_domains:SSF54452|ENST00000412585.2:c.263_285delCACAGATCTACAAGGCCCAGGCAinsTGAAGGCCTCCGCG|ENSP00000399168.2:p.Thr88_Gln94delinsMetLysAlaSer|||||||||||||,CGCGGAGGCCTTCA|ENSG00000234745|ENST00000498007|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_truncation|284-306|||||||-1|HLA-B|HGNC||retained_intron||||ENST00000498007.1:n.284_306delCACAGATCTACAAGGCCCAGGCAinsTGAAGGCCTCCGCG||||||||||||||,CGCGGAGGCCTTCA|ENSG00000234745|ENST00000497377|Transcript|upstream_gene_variant|||||||1670|-1|HLA-B|HGNC||retained_intron||||||||||||||||||,CGCGGAGGCCTTCA|ENSG00000234745|ENST00000474381|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_truncation|138-160|||||||-1|HLA-B|HGNC||retained_intron||||ENST00000474381.1:n.138_160delCACAGATCTACAAGGCCCAGGCAinsTGAAGGCCTCCGCG||||||||||||||,CGCGGAGGCCTTCA|ENSG00000234745|ENST00000434333|Transcript|feature_truncation|421-443|296-318|99-106|TQIYKAQA/MKASA|aCACAGATCTACAAGGCCCAGGCA/aTGAAGGCCTCCGCG|||-1|HLA-B|HGNC||protein_coding|||Pfam_domain:PF00129&Prints_domain:PR01638&Superfamily_domains:SSF54452|ENST00000434333.1:c.296_318delCACAGATCTACAAGGCCCAGGCAinsTGAAGGCCTCCGCG|ENSP00000405931.1:p.Thr99_Gln105delinsMetLysAlaSer|||||||||||||,CGCGGAGGCCTTCA|ENSG00000271581|ENST00000603274|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_truncation|100-122|||||||1|XXbac-BPG248L24.12|Clone_based_vega_gene||unprocessed_pseudogene||||ENST00000603274.1:n.100_122delTGCCTGGGCCTTGTAGATCTGTGinsCGCGGAGGCCTTCA||||||||||||||,CGCGGAGGCCTTCA||ENSR00000487828|RegulatoryFeature|regulatory_region_variant||||||||||||||||||||||||||||||
6	31503023	.	CC	CTTGGGCACAAGG	.	.	CSQ=TTGGGCACAAGG|ENSG00000198563|ENST00000417556|Transcript|intron_variant&feature_elongation||||||||-1|DDX39B|HGNC||protein_coding||||ENST00000417556.2:c.780+120delGinsCCTTGTGCCCAA||||||||||||||,TTGGGCACAAGG|ENSG00000198563|ENST00000456976|Transcript|downstream_gene_variant|||||||3572|-1|DDX39B|HGNC||protein_coding||||||||||||||||||,TTGGGCACAAGG|ENSG00000198563|ENST00000427214|Transcript|intron_variant&feature_elongation||||||||-1|DDX39B|HGNC||protein_coding||||ENST00000427214.1:c.735+120delGinsCCTTGTGCCCAA||||||||||||||,TTGGGCACAAGG|ENSG00000198563|ENST00000431908|Transcript|intron_variant&feature_elongation||||||||-1|DDX39B|HGNC||protein_coding||||ENST00000431908.1:c.501+120delGinsCCTTGTGCCCAA||||||||||||||,TTGGGCACAAGG|ENSG00000198563|ENST00000484566|Transcript|intron_variant&NMD_transcript_variant&feature_elongation||||||||-1|DDX39B|HGNC||nonsense_mediated_decay||||ENST00000484566.1:c.109+120delGinsCCTTGTGCCCAA||||||||||||||,TTGGGCACAAGG|ENSG00000254870|ENST00000376185|Transcript|intron_variant&NMD_transcript_variant&feature_elongation||||||||-1|ATP6V1G2-DDX39B|HGNC|41999|nonsense_mediated_decay||||ENST00000376185.1:c.*949+120delGinsCCTTGTGCCCAA||||||||||||||,TTGGGCACAAGG|ENSG00000201785|ENST00000364915|Transcript|downstream_gene_variant|||||||1127|-1|SNORD117|HGNC|32742|snoRNA||||||||||||||||||,TTGGGCACAAGG|ENSG00000198563|ENST00000462421|Transcript|upstream_gene_variant|||||||4312|-1|DDX39B|HGNC||processed_transcript||||||||||||||||||,TTGGGCACAAGG|ENSG00000198563|ENST00000474961|Transcript|upstream_gene_variant|||||||3503|-1|DDX39B|HGNC|13917|retained_intron||||||||||||||||||,TTGGGCACAAGG|ENSG00000198563|ENST00000415382|Transcript|intron_variant&feature_elongation||||||||-1|DDX39B|HGNC||protein_coding||||ENST00000415382.2:c.501+120delGinsCCTTGTGCCCAA||||||||||||||,TTGGGCACAAGG|ENSG00000198563|ENST00000456662|Transcript|downstream_gene_variant|||||||160|-1|DDX39B|HGNC||protein_coding||||||||||||||||||,TTGGGCACAAGG|ENSG00000198563|ENST00000458640|Transcript|intron_variant&feature_elongation||||||||-1|DDX39B|HGNC||protein_coding||||ENST00000458640.1:c.735+120delGinsCCTTGTGCCCAA||||||||||||||,TTGGGCACAAGG|ENSG00000198563|ENST00000449074|Transcript|downstream_gene_variant|||||||1308|-1|DDX39B|HGNC||protein_coding||||||||||||||||||,TTGGGCACAAGG|ENSG00000198563|ENST00000396172|Transcript|intron_variant&feature_elongation||||||||-1|DDX39B|HGNC||protein_coding||||ENST00000396172.1:c.735+120delGinsCCTTGTGCCCAA||||||||||||||,TTGGGCACAAGG|ENSG00000198563|ENST00000449757|Transcript|downstream_gene_variant|||||||1376|-1|DDX39B|HGNC||protein_coding||||||||||||||||||,TTGGGCACAAGG|ENSG00000198563|ENST00000419020|Transcript|downstream_gene_variant|||||||3635|-1|DDX39B|HGNC||protein_coding||||||||||||||||||,TTGGGCACAAGG|ENSG00000198563|ENST00000481456|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|2324|||||||-1|DDX39B|HGNC||retained_intron||||ENST00000481456.1:n.2324delGinsCCTTGTGCCCAA||||||||||||||,TTGGGCACAAGG|ENSG00000198563|ENST00000419338|Transcript|downstream_gene_variant|||||||148|-1|DDX39B|HGNC||protein_coding||||||||||||||||||,TTGGGCACAAGG|ENSG00000198563|ENST00000453105|Transcript|frameshift_variant&feature_elongation|901|714|238|||||-1|DDX39B|HGNC||protein_coding||||ENST00000453105.2:c.714delGinsCCTTGTGCCCAA|ENSP00000400328.2:p.Gly239LeufsTer6|||||||||||||,TTGGGCACAAGG|ENSG00000198563|ENST00000482195|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||||-1|DDX39B|HGNC||retained_intron||||ENST00000482195.1:n.968+120delGinsCCTTGTGCCCAA||||||||||||||,TTGGGCACAAGG|ENSG00000198563|ENST00000428450|Transcript|downstream_gene_variant|||||||1362|-1|DDX39B|HGNC||protein_coding||||||||||||||||||,TTGGGCACAAGG|ENSG00000198563|ENST00000418897|Transcript|downstream_gene_variant|||||||3584|-1|DDX39B|HGNC||protein_coding||||||||||||||||||,TTGGGCACAAGG|ENSG00000198563|ENST00000417023|Transcript|upstream_gene_variant|||||||736|-1|DDX39B|HGNC||protein_coding||||||||||||||||||,TTGGGCACAAGG|ENSG00000198563|ENST00000462256|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|925|||||||-1|DDX39B|HGNC||retained_intron||||ENST00000462256.1:n.925delGinsCCTTGTGCCCAA||||||||||||||,TTGGGCACAAGG|ENSG00000198563|ENST00000428098|Transcript|downstream_gene_variant|||||||141|-1|DDX39B|HGNC||protein_coding||||||||||||||||||,TTGGGCACAAGG|ENSG00000198563|ENST00000478365|Transcript|upstream_gene_variant|||||||3576|-1|DDX39B|HGNC||retained_intron||||||||||||||||||,TTGGGCACAAGG|ENSG00000198563|ENST00000376177|Transcript|intron_variant&feature_elongation||||||||-1|DDX39B|HGNC||protein_coding||||ENST00000376177.2:c.735+120delGinsCCTTGTGCCCAA||||||||||||||
6	31503023	.	C	CTTGGGCACAAG	.	.	MQ=0;CSQ=TTGGGCACAAG|ENSG00000198563|ENST00000417556|Transcript|intron_variant&feature_elongation||||||||-1|DDX39B|HGNC||protein_coding||||ENST00000417556.2:c.780+120_780+121insCTTGTGCCCAA||||||||||||||,TTGGGCACAAG|ENSG00000198563|ENST00000456976|Transcript|downstream_gene_variant|||||||3572|-1|DDX39B|HGNC||protein_coding||||||||||||||||||,TTGGGCACAAG|ENSG00000198563|ENST00000427214|Transcript|intron_variant&feature_elongation||||||||-1|DDX39B|HGNC||protein_coding||||ENST00000427214.1:c.735+120_735+121insCTTGTGCCCAA||||||||||||||,TTGGGCACAAG|ENSG00000198563|ENST00000431908|Transcript|intron_variant&feature_elongation||||||||-1|DDX39B|HGNC||protein_coding||||ENST00000431908.1:c.501+120_501+121insCTTGTGCCCAA||||||||||||||,TTGGGCACAAG|ENSG00000198563|ENST00000484566|Transcript|intron_variant&NMD_transcript_variant&feature_elongation||||||||-1|DDX39B|HGNC||nonsense_mediated_decay||||ENST00000484566.1:c.109+120_109+121insCTTGTGCCCAA||||||||||||||,TTGGGCACAAG|ENSG00000254870|ENST00000376185|Transcript|intron_variant&NMD_transcript_variant&feature_elongation||||||||-1|ATP6V1G2-DDX39B|HGNC|41999|nonsense_mediated_decay||||ENST00000376185.1:c.*949+120_*949+121insCTTGTGCCCAA||||||||||||||,TTGGGCACAAG|ENSG00000201785|ENST00000364915|Transcript|downstream_gene_variant|||||||1127|-1|SNORD117|HGNC|32742|snoRNA||||||||||||||||||,TTGGGCACAAG|ENSG00000198563|ENST00000462421|Transcript|upstream_gene_variant|||||||4311|-1|DDX39B|HGNC||processed_transcript||||||||||||||||||,TTGGGCACAAG|ENSG00000198563|ENST00000474961|Transcript|upstream_gene_variant|||||||3502|-1|DDX39B|HGNC|13917|retained_intron||||||||||||||||||,TTGGGCACAAG|ENSG00000198563|ENST00000415382|Transcript|intron_variant&feature_elongation||||||||-1|DDX39B|HGNC||protein_coding||||ENST00000415382.2:c.501+120_501+121insCTTGTGCCCAA||||||||||||||,TTGGGCACAAG|ENSG00000198563|ENST00000456662|Transcript|downstream_gene_variant|||||||160|-1|DDX39B|HGNC||protein_coding||||||||||||||||||,TTGGGCACAAG|ENSG00000198563|ENST00000458640|Transcript|intron_variant&feature_elongation||||||||-1|DDX39B|HGNC||protein_coding||||ENST00000458640.1:c.735+120_735+121insCTTGTGCCCAA||||||||||||||,TTGGGCACAAG|ENSG00000198563|ENST00000449074|Transcript|downstream_gene_variant|||||||1308|-1|DDX39B|HGNC||protein_coding||||||||||||||||||,TTGGGCACAAG|ENSG00000198563|ENST00000396172|Transcript|intron_variant&feature_elongation||||||||-1|DDX39B|HGNC||protein_coding||||ENST00000396172.1:c.735+120_735+121insCTTGTGCCCAA||||||||||||||,TTGGGCACAAG|ENSG00000198563|ENST00000449757|Transcript|downstream_gene_variant|||||||1376|-1|DDX39B|HGNC||protein_coding||||||||||||||||||,TTGGGCACAAG|ENSG00000198563|ENST00000419020|Transcript|downstream_gene_variant|||||||3635|-1|DDX39B|HGNC||protein_coding||||||||||||||||||,TTGGGCACAAG|ENSG00000198563|ENST00000481456|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|2324-2325|||||||-1|DDX39B|HGNC||retained_intron||||ENST00000481456.1:n.2324_2325insCTTGTGCCCAA||||||||||||||,TTGGGCACAAG|ENSG00000198563|ENST00000419338|Transcript|downstream_gene_variant|||||||148|-1|DDX39B|HGNC||protein_coding||||||||||||||||||,TTGGGCACAAG|ENSG00000198563|ENST00000453105|Transcript|frameshift_variant&feature_elongation|901-902|714-715|238-239|||||-1|DDX39B|HGNC||protein_coding||||ENST00000453105.2:c.714_715insCTTGTGCCCAA|ENSP00000400328.2:p.Gly239LeufsTer6|||||||||||||,TTGGGCACAAG|ENSG00000198563|ENST00000482195|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||||-1|DDX39B|HGNC||retained_intron||||ENST00000482195.1:n.968+120_968+121insCTTGTGCCCAA||||||||||||||,TTGGGCACAAG|ENSG00000198563|ENST00000428450|Transcript|downstream_gene_variant|||||||1362|-1|DDX39B|HGNC||protein_coding||||||||||||||||||,TTGGGCACAAG|ENSG00000198563|ENST00000418897|Transcript|downstream_gene_variant|||||||3584|-1|DDX39B|HGNC||protein_coding||||||||||||||||||,TTGGGCACAAG|ENSG00000198563|ENST00000417023|Transcript|upstream_gene_variant|||||||735|-1|DDX39B|HGNC||protein_coding||||||||||||||||||,TTGGGCACAAG|ENSG00000198563|ENST00000462256|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|925-926|||||||-1|DDX39B|HGNC||retained_intron||||ENST00000462256.1:n.925_926insCTTGTGCCCAA||||||||||||||,TTGGGCACAAG|ENSG00000198563|ENST00000428098|Transcript|downstream_gene_variant|||||||141|-1|DDX39B|HGNC||protein_coding||||||||||||||||||,TTGGGCACAAG|ENSG00000198563|ENST00000478365|Transcript|upstream_gene_variant|||||||3575|-1|DDX39B|HGNC||retained_intron||||||||||||||||||,TTGGGCACAAG|ENSG00000198563|ENST00000376177|Transcript|intron_variant&feature_elongation||||||||-1|DDX39B|HGNC||protein_coding||||ENST00000376177.2:c.735+120_735+121insCTTGTGCCCAA||||||||||||||
6	31736973	.	A	AGACTCACCTGG	.	.	MQ=0;CSQ=GACTCACCTGG|ENSG00000204410|ENST00000534153|Transcript|downstream_gene_variant|||||||4351|1|MSH5|HGNC||protein_coding||||||||||||||||||,GACTCACCTGG|ENSG00000204396|ENST00000447450|Transcript|frameshift_variant&feature_elongation|1562-1563|1324-1325|442|||||-1|VWA7|HGNC||protein_coding|||Superfamily_domains:SSF53300|ENST00000447450.1:c.1324_1325insCCAGGTGAGTC|ENSP00000390554.1:p.Phe442SerfsTer3|||||||||||||,GACTCACCTGG|ENSG00000204396|ENST00000375688|Transcript|frameshift_variant&feature_elongation|1525-1526|1324-1325|442|||||-1|VWA7|HGNC|13939|protein_coding|||Superfamily_domains:SSF53300|ENST00000375688.4:c.1324_1325insCCAGGTGAGTC|ENSP00000364840.4:p.Phe442SerfsTer3|||||||||||||,GACTCACCTGG|ENSG00000255152|ENST00000498473|Transcript|downstream_gene_variant|||||||4346|1|MSH5-SAPCD1|HGNC||nonsense_mediated_decay||||||||||||||||||,GACTCACCTGG|ENSG00000204396|ENST00000487013|Transcript|downstream_gene_variant|||||||2073|-1|VWA7|HGNC||processed_transcript||||||||||||||||||,GACTCACCTGG|ENSG00000228727|ENST00000494299|Transcript|downstream_gene_variant|||||||4897|1|SAPCD1|HGNC||retained_intron||||||||||||||||||,GACTCACCTGG|ENSG00000204396|ENST00000486423|Transcript|upstream_gene_variant|||||||1509|-1|VWA7|HGNC||retained_intron||||||||||||||||||,GACTCACCTGG|ENSG00000204396|ENST00000375686|Transcript|frameshift_variant&feature_elongation|1562-1563|1324-1325|442|||||-1|VWA7|HGNC||protein_coding|||Superfamily_domains:SSF53300|ENST00000375686.3:c.1324_1325insCCAGGTGAGTC|ENSP00000364838.3:p.Phe442SerfsTer3|||||||||||||,GACTCACCTGG|ENSG00000204396|ENST00000467576|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|1187-1188|||||||-1|VWA7|HGNC||processed_transcript||||ENST00000467576.1:n.1187_1188insCCAGGTGAGTC||||||||||||||,GACTCACCTGG|ENSG00000228727|ENST00000415669|Transcript|downstream_gene_variant|||||||4345|1|SAPCD1|HGNC||protein_coding||||||||||||||||||,GACTCACCTGG|ENSG00000235663|ENST00000419679|Transcript|upstream_gene_variant|||||||3608|-1|SAPCD1-AS1|HGNC|39824|antisense||||||||||||||||||,GACTCACCTGG|ENSG00000255152|ENST00000493662|Transcript|downstream_gene_variant|||||||4346|1|MSH5-SAPCD1|HGNC|41994|nonsense_mediated_decay||||||||||||||||||,GACTCACCTGG|ENSG00000255152|ENST00000476085|Transcript|downstream_gene_variant|||||||4345|1|MSH5-SAPCD1|HGNC||nonsense_mediated_decay||||||||||||||||||,GACTCACCTGG|ENSG00000228727|ENST00000425424|Transcript|downstream_gene_variant|||||||4351|1|SAPCD1|HGNC||protein_coding||||||||||||||||||
6	31736973	.	AATGTT	AGACTCACCTGGTACTC	.	.	CSQ=GACTCACCTGGTACTC|ENSG00000204410|ENST00000534153|Transcript|downstream_gene_variant|||||||4352|1|MSH5|HGNC||protein_coding||||||||||||||||||,GACTCACCTGGTACTC|ENSG00000204396|ENST00000447450|Transcript|frameshift_variant&splice_region_variant&feature_elongation|1558-1562|1320-1324|440-442|||||-1|VWA7|HGNC||protein_coding|||Superfamily_domains:SSF53300|ENST00000447450.1:c.1320_1324delAACATinsGAGTACCAGGTGAGTC|ENSP00000390554.1:p.Thr441SerfsTer4|||||||||||||,GACTCACCTGGTACTC|ENSG00000204396|ENST00000375688|Transcript|frameshift_variant&splice_region_variant&feature_elongation|1521-1525|1320-1324|440-442|||||-1|VWA7|HGNC|13939|protein_coding|||Superfamily_domains:SSF53300|ENST00000375688.4:c.1320_1324delAACATinsGAGTACCAGGTGAGTC|ENSP00000364840.4:p.Thr441SerfsTer4|||||||||||||,GACTCACCTGGTACTC|ENSG00000255152|ENST00000498473|Transcript|downstream_gene_variant|||||||4347|1|MSH5-SAPCD1|HGNC||nonsense_mediated_decay||||||||||||||||||,GACTCACCTGGTACTC|ENSG00000204396|ENST00000487013|Transcript|downstream_gene_variant|||||||2069|-1|VWA7|HGNC||processed_transcript||||||||||||||||||,GACTCACCTGGTACTC|ENSG00000228727|ENST00000494299|Transcript|downstream_gene_variant|||||||4898|1|SAPCD1|HGNC||retained_intron||||||||||||||||||,GACTCACCTGGTACTC|ENSG00000204396|ENST00000486423|Transcript|upstream_gene_variant|||||||1510|-1|VWA7|HGNC||retained_intron||||||||||||||||||,GACTCACCTGGTACTC|ENSG00000204396|ENST00000375686|Transcript|frameshift_variant&splice_region_variant&feature_elongation|1558-1562|1320-1324|440-442|||||-1|VWA7|HGNC||protein_coding|||Superfamily_domains:SSF53300|ENST00000375686.3:c.1320_1324delAACATinsGAGTACCAGGTGAGTC|ENSP00000364838.3:p.Thr441SerfsTer4|||||||||||||,GACTCACCTGGTACTC|ENSG00000204396|ENST00000467576|Transcript|splice_region_variant&non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|1183-1187|||||||-1|VWA7|HGNC||processed_transcript||||ENST00000467576.1:n.1183_1187delAACATinsGAGTACCAGGTGAGTC||||||||||||||,GACTCACCTGGTACTC|ENSG00000228727|ENST00000415669|Transcript|downstream_gene_variant|||||||4346|1|SAPCD1|HGNC||protein_coding||||||||||||||||||,GACTCACCTGGTACTC|ENSG00000235663|ENST00000419679|Transcript|upstream_gene_variant|||||||3609|-1|SAPCD1-AS1|HGNC|39824|antisense||||||||||||||||||,GACTCACCTGGTACTC|ENSG00000255152|ENST00000493662|Transcript|downstream_gene_variant|||||||4347|1|MSH5-SAPCD1|HGNC|41994|nonsense_mediated_decay||||||||||||||||||,GACTCACCTGGTACTC|ENSG00000255152|ENST00000476085|Transcript|downstream_gene_variant|||||||4346|1|MSH5-SAPCD1|HGNC||nonsense_mediated_decay||||||||||||||||||,GACTCACCTGGTACTC|ENSG00000228727|ENST00000425424|Transcript|downstream_gene_variant|||||||4352|1|SAPCD1|HGNC||protein_coding||||||||||||||||||
6	76022695	.	TCTTGGTTTCTGATT	TATTCCTA	.	.	CSQ=ATTCCTA|ENSG00000118407|ENST00000370020|Transcript|frameshift_variant&feature_truncation|2649-2662|2542-2555|848-852|||||-1|FILIP1|HGNC||protein_coding||||ENST00000370020.1:c.2542_2555delAATCAGAAACCAAGinsTAGGAAT|ENSP00000359037.1:p.Asn848Ter|||||||||||||,ATTCCTA|ENSG00000118407|ENST00000393004|Transcript|frameshift_variant&feature_truncation|3061-3074|2839-2852|947-951|||||-1|FILIP1|HGNC|21015|protein_coding||||ENST00000393004.2:c.2839_2852delAATCAGAAACCAAGinsTAGGAAT|ENSP00000376728.1:p.Asn947Ter|||||||||||||,ATTCCTA|ENSG00000118407|ENST00000498523|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_truncation|2358-2371|||||||-1|FILIP1|HGNC||processed_transcript||||ENST00000498523.1:n.2358_2371delAATCAGAAACCAAGinsTAGGAAT||||||||||||||,ATTCCTA|ENSG00000118407|ENST00000237172|Transcript|frameshift_variant&feature_truncation|3170-3183|2839-2852|947-951|||||-1|FILIP1|HGNC||protein_coding||||ENST00000237172.7:c.2839_2852delAATCAGAAACCAAGinsTAGGAAT|ENSP00000237172.7:p.Asn947Ter|||||||||||||
6	108243106	.	GTGGCTCCCTGGGGAAAAAC	GGGGCCCCCAGGGGGGGG,GTGGCTCCCTGGGGAAAA	.	.	CSQ=TGGCTCCCTGGGGAAAA|ENSG00000025796|ENST00000429168|Transcript|splice_acceptor_variant&coding_sequence_variant&intron_variant&feature_truncation|?-341|?-178|?-60|||||-1|SEC63|HGNC||protein_coding||||ENST00000429168.1:c.172-12_178delGTTTTTCCCCAGGGAGCCAinsTTTTCCCCAGGGAGCCA||||||||||||||,GGGCCCCCAGGGGGGGG|ENSG00000025796|ENST00000429168|Transcript|splice_acceptor_variant&coding_sequence_variant&intron_variant&feature_truncation|?-341|?-178|?-60|||||-1|SEC63|HGNC||protein_coding||||ENST00000429168.1:c.172-12_178delGTTTTTCCCCAGGGAGCCAinsCCCCCCCCTGGGGGCCC||||||||||||||,TGGCTCCCTGGGGAAAA|ENSG00000025796|ENST00000484803|Transcript|splice_acceptor_variant&non_coding_transcript_exon_variant&intron_variant&nc_transcript_variant&feature_truncation|?-268|||||||-1|SEC63|HGNC||retained_intron||||ENST00000484803.1:n.262-12_268delGTTTTTCCCCAGGGAGCCAinsTTTTCCCCAGGGAGCCA||||||||||||||,GGGCCCCCAGGGGGGGG|ENSG00000025796|ENST00000484803|Transcript|splice_acceptor_variant&non_coding_transcript_exon_variant&intron_variant&nc_transcript_variant&feature_truncation|?-268|||||||-1|SEC63|HGNC||retained_intron||||ENST00000484803.1:n.262-12_268delGTTTTTCCCCAGGGAGCCAinsCCCCCCCCTGGGGGCCC||||||||||||||,TGGCTCCCTGGGGAAAA|ENSG00000025796|ENST00000369002|Transcript|splice_acceptor_variant&coding_sequence_variant&intron_variant&feature_truncation|?-526|?-346|?-116|||||-1|SEC63|HGNC|21082|protein_coding||||ENST00000369002.4:c.340-12_346delGTTTTTCCCCAGGGAGCCAinsTTTTCCCCAGGGAGCCA||||||||||||||,GGGCCCCCAGGGGGGGG|ENSG00000025796|ENST00000369002|Transcript|splice_acceptor_variant&coding_sequence_variant&intron_variant&feature_truncation|?-526|?-346|?-116|||||-1|SEC63|HGNC|21082|protein_coding||||ENST00000369002.4:c.340-12_346delGTTTTTCCCCAGGGAGCCAinsCCCCCCCCTGGGGGCCC||||||||||||||,TGGCTCCCTGGGGAAAA|ENSG00000025796|ENST00000446496|Transcript|downstream_gene_variant|||||||2897|-1|SEC63|HGNC||nonsense_mediated_decay||||||||||||||||||,GGGCCCCCAGGGGGGGG|ENSG00000025796|ENST00000446496|Transcript|downstream_gene_variant|||||||2897|-1|SEC63|HGNC||nonsense_mediated_decay||||||||||||||||||
6	116937770	.	TTTCTT	TCACGCCCCTTTCATCCA	.	.	CSQ=CACGCCCCTTTCATCCA|ENSG00000111834|ENST00000368581|Transcript|5_prime_UTR_variant&feature_elongation|130-134|||||||1|RSPH4A|HGNC|21558|protein_coding||||ENST00000368581.4:c.-16_-12delTTCTTinsCACGCCCCTTTCATCCA||||||||||||||,CACGCCCCTTTCATCCA|ENSG00000111834|ENST00000229554|Transcript|5_prime_UTR_variant&feature_elongation|122-126|||||||1|RSPH4A|HGNC||protein_coding||||ENST00000229554.5:c.-16_-12delTTCTTinsCACGCCCCTTTCATCCA||||||||||||||,CACGCCCCTTTCATCCA|ENSG00000111834|ENST00000368580|Transcript|upstream_gene_variant|||||||12|1|RSPH4A|HGNC||protein_coding||||||||||||||||||,CACGCCCCTTTCATCCA||ENSR00001225324|RegulatoryFeature|regulatory_region_variant||||||||||||||||||||||||||||||
6	117113761	.	A	AGG	.	.	MQ=0;CSQ=GG|ENSG00000173612|ENST00000310357|Transcript|frameshift_variant&feature_elongation|2346-2347|2324-2325|775|||||-1|GPRC6A|HGNC|18510|protein_coding|||Pfam_domain:PF00003&PROSITE_profiles:PS50259|ENST00000310357.3:c.2324_2325insCC|ENSP00000309493.3:p.Glu776LeufsTer19|||||||||||||,GG|ENSG00000173612|ENST00000368549|Transcript|frameshift_variant&feature_elongation|2135-2136|2111-2112|704|||||-1|GPRC6A|HGNC||protein_coding|||Pfam_domain:PF00003&PROSITE_profiles:PS50259|ENST00000368549.3:c.2111_2112insCC|ENSP00000357537.3:p.Glu705LeufsTer19|||||||||||||,GG|ENSG00000173612|ENST00000530250|Transcript|frameshift_variant&feature_elongation|1823-1824|1799-1800|600|||||-1|GPRC6A|HGNC||protein_coding|||Pfam_domain:PF00003&PROSITE_profiles:PS50259|ENST00000530250.1:c.1799_1800insCC|ENSP00000433465.1:p.Glu601LeufsTer19|||||||||||||
6	117113761	.	A	AGGTAAT	.	.	MQ=0;CSQ=GGTAAT|ENSG00000173612|ENST00000310357|Transcript|stop_gained&inframe_insertion|2346-2347|2324-2325|775|Y/*LP|tat/taATTACCt|||-1|GPRC6A|HGNC|18510|protein_coding|||Pfam_domain:PF00003&PROSITE_profiles:PS50259|ENST00000310357.3:c.2324_2325insATTACC|ENSP00000309493.3:p.Tyr775delinsTer|||||||||||||,GGTAAT|ENSG00000173612|ENST00000368549|Transcript|stop_gained&inframe_insertion|2135-2136|2111-2112|704|Y/*LP|tat/taATTACCt|||-1|GPRC6A|HGNC||protein_coding|||Pfam_domain:PF00003&PROSITE_profiles:PS50259|ENST00000368549.3:c.2111_2112insATTACC|ENSP00000357537.3:p.Tyr704delinsTer|||||||||||||,GGTAAT|ENSG00000173612|ENST00000530250|Transcript|stop_gained&inframe_insertion|1823-1824|1799-1800|600|Y/*LP|tat/taATTACCt|||-1|GPRC6A|HGNC||protein_coding|||Pfam_domain:PF00003&PROSITE_profiles:PS50259|ENST00000530250.1:c.1799_1800insATTACC|ENSP00000433465.1:p.Tyr600delinsTer|||||||||||||
6	117113761	.	A	AGGT	.	.	MQ=0;CSQ=GGT|ENSG00000173612|ENST00000310357|Transcript|stop_gained&inframe_insertion|2346-2347|2324-2325|775|Y/*P|tat/taACCt|||-1|GPRC6A|HGNC|18510|protein_coding|||Pfam_domain:PF00003&PROSITE_profiles:PS50259|ENST00000310357.3:c.2324_2325insACC|ENSP00000309493.3:p.Tyr775delinsTer|||||||||||||,GGT|ENSG00000173612|ENST00000368549|Transcript|stop_gained&inframe_insertion|2135-2136|2111-2112|704|Y/*P|tat/taACCt|||-1|GPRC6A|HGNC||protein_coding|||Pfam_domain:PF00003&PROSITE_profiles:PS50259|ENST00000368549.3:c.2111_2112insACC|ENSP00000357537.3:p.Tyr704delinsTer|||||||||||||,GGT|ENSG00000173612|ENST00000530250|Transcript|stop_gained&inframe_insertion|1823-1824|1799-1800|600|Y/*P|tat/taACCt|||-1|GPRC6A|HGNC||protein_coding|||Pfam_domain:PF00003&PROSITE_profiles:PS50259|ENST00000530250.1:c.1799_1800insACC|ENSP00000433465.1:p.Tyr600delinsTer|||||||||||||
6	117113761	.	ATATT	AGGTAATTTCC	.	.	CSQ=GGTAATTTCC|ENSG00000173612|ENST00000310357|Transcript|inframe_insertion|2343-2346|2321-2324|774-775|KY/RKLP|aAATAt/aGGAAATTACCt|||-1|GPRC6A|HGNC|18510|protein_coding|||Pfam_domain:PF00003&PROSITE_profiles:PS50259|ENST00000310357.3:c.2321_2324delAATAinsGGAAATTACC|ENSP00000309493.3:p.Lys774_Tyr775delinsArgLysLeuPro|||||||||||||,GGTAATTTCC|ENSG00000173612|ENST00000368549|Transcript|inframe_insertion|2132-2135|2108-2111|703-704|KY/RKLP|aAATAt/aGGAAATTACCt|||-1|GPRC6A|HGNC||protein_coding|||Pfam_domain:PF00003&PROSITE_profiles:PS50259|ENST00000368549.3:c.2108_2111delAATAinsGGAAATTACC|ENSP00000357537.3:p.Lys703_Tyr704delinsArgLysLeuPro|||||||||||||,GGTAATTTCC|ENSG00000173612|ENST00000530250|Transcript|inframe_insertion|1820-1823|1796-1799|599-600|KY/RKLP|aAATAt/aGGAAATTACCt|||-1|GPRC6A|HGNC||protein_coding|||Pfam_domain:PF00003&PROSITE_profiles:PS50259|ENST00000530250.1:c.1796_1799delAATAinsGGAAATTACC|ENSP00000433465.1:p.Lys599_Tyr600delinsArgLysLeuPro|||||||||||||
6	132030021	.	GGCCCCTTGTATCCACTGGAAACAATGGACCG	GACCA	.	.	CSQ=ACCA|ENSG00000236761|ENST00000314099|Transcript|feature_truncation|2155-2185|2106-2136|702-712|SGPLFPVDTRG/SG|agCGGTCCATTGTTTCCAGTGGATACAAGGGGC/agTGGT|||-1|CTAGE9|HGNC|37275|protein_coding|||Low_complexity_(Seg):Seg&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50099|ENST00000314099.8:c.2106_2136delCGGTCCATTGTTTCCAGTGGATACAAGGGGCinsTGGT|ENSP00000395587.2:p.Pro704_Gly712del|||||||||||||,ACCA|ENSG00000154269|ENST00000358229|Transcript|intron_variant&feature_truncation||||||||1|ENPP3|HGNC||protein_coding||||ENST00000358229.5:c.1413-9790_1413-9760delGCCCCTTGTATCCACTGGAAACAATGGACCGinsACCA||||||||||||||,ACCA|ENSG00000154269|ENST00000357639|Transcript|intron_variant&feature_truncation||||||||1|ENPP3|HGNC||protein_coding||||ENST00000357639.3:c.1413-9790_1413-9760delGCCCCTTGTATCCACTGGAAACAATGGACCGinsACCA||||||||||||||,ACCA|ENSG00000154269|ENST00000414305|Transcript|intron_variant&feature_truncation||||||||1|ENPP3|HGNC||protein_coding||||ENST00000414305.1:c.1413-9790_1413-9760delGCCCCTTGTATCCACTGGAAACAATGGACCGinsACCA||||||||||||||
6	159660779	.	GCCACCACCCGCCGCACGACCACCACCCG	GCCACCACCCG,GCCACCACCCA	.	.	CSQ=CCACCACCCA|ENSG00000235086|ENST00000419703|Transcript|upstream_gene_variant|||||||1011|1|FNDC1-IT1|HGNC|41460|sense_intronic||||||||||||||||||,CCACCACCCG|ENSG00000235086|ENST00000419703|Transcript|upstream_gene_variant|||||||1011|1|FNDC1-IT1|HGNC|41460|sense_intronic||||||||||||||||||,CCACCACCCA|ENSG00000164694|ENST00000340366|Transcript|feature_truncation|4423-4450|4223-4250|1408-1417|ATTRRTTTTR/ATTH|gCCACCACCCGCCGCACGACCACCACCCGc/gCCACCACCCAc|||1|FNDC1|HGNC||protein_coding|||Low_complexity_(Seg):Seg&PROSITE_profiles:PS50325|ENST00000340366.6:c.4223_4250delCCACCACCCGCCGCACGACCACCACCCGinsCCACCACCCA|ENSP00000342460.6:p.Arg1411_Arg1417delinsHis|||||||||||||,CCACCACCCG|ENSG00000164694|ENST00000340366|Transcript|inframe_deletion|4423-4450|4223-4250|1408-1417|ATTRRTTTTR/ATTR|gCCACCACCCGCCGCACGACCACCACCCGc/gCCACCACCCGc|||1|FNDC1|HGNC||protein_coding|||Low_complexity_(Seg):Seg&PROSITE_profiles:PS50325|ENST00000340366.6:c.4223_4250delCCACCACCCGCCGCACGACCACCACCCGinsCCACCACCCG|ENSP00000342460.6:p.Arg1412_Arg1417del|||||||||||||,CCACCACCCA|ENSG00000164694|ENST00000297267|Transcript|feature_truncation|4612-4639|4412-4439|1471-1480|ATTRRTTTTR/ATTH|gCCACCACCCGCCGCACGACCACCACCCGc/gCCACCACCCAc|||1|FNDC1|HGNC|21184|protein_coding|||Low_complexity_(Seg):Seg&PROSITE_profiles:PS50325|ENST00000297267.9:c.4412_4439delCCACCACCCGCCGCACGACCACCACCCGinsCCACCACCCA|ENSP00000297267.9:p.Arg1474_Arg1480delinsHis|||||||||||||,CCACCACCCG|ENSG00000164694|ENST00000297267|Transcript|inframe_deletion|4612-4639|4412-4439|1471-1480|ATTRRTTTTR/ATTR|gCCACCACCCGCCGCACGACCACCACCCGc/gCCACCACCCGc|||1|FNDC1|HGNC|21184|protein_coding|||Low_complexity_(Seg):Seg&PROSITE_profiles:PS50325|ENST00000297267.9:c.4412_4439delCCACCACCCGCCGCACGACCACCACCCGinsCCACCACCCG|ENSP00000297267.9:p.Arg1475_Arg1480del|||||||||||||,CCACCACCCA|ENSG00000164694|ENST00000329629|Transcript|feature_truncation|4098-4125|4100-4127|1367-1376|ATTRRTTTTR/ATTH|gCCACCACCCGCCGCACGACCACCACCCGc/gCCACCACCCAc|||1|FNDC1|HGNC||protein_coding|||Low_complexity_(Seg):Seg&PROSITE_profiles:PS50325|ENST00000329629.8:c.4098_4125delCCACCACCCGCCGCACGACCACCACCCGinsCCACCACCCA|ENSP00000333297.8:p.Arg1370_Arg1376delinsHis|||||||||||||,CCACCACCCG|ENSG00000164694|ENST00000329629|Transcript|inframe_deletion|4098-4125|4100-4127|1367-1376|ATTRRTTTTR/ATTR|gCCACCACCCGCCGCACGACCACCACCCGc/gCCACCACCCGc|||1|FNDC1|HGNC||protein_coding|||Low_complexity_(Seg):Seg&PROSITE_profiles:PS50325|ENST00000329629.8:c.4098_4125delCCACCACCCGCCGCACGACCACCACCCGinsCCACCACCCG|ENSP00000333297.8:p.Arg1371_Arg1376del|||||||||||||
6	159660779	.	GCCACCACCCGCCGCACGA	G	.	.	MQ=0;CSQ=-|ENSG00000235086|ENST00000419703|Transcript|upstream_gene_variant||||||COSM1441915&rs141435210|1021|1|FNDC1-IT1|HGNC|41460|sense_intronic||||||CCACCACCCGCCGCACGA:0.2190|-:0.71|-:0.87|-:0.62|-:0.91|-:0.671548|-:0.870618||1&0||||,-|ENSG00000164694|ENST00000340366|Transcript|inframe_deletion|4423-4440|4223-4240|1408-1414|ATTRRTT/A|gCCACCACCCGCCGCACGAcc/gcc|COSM1441915&rs141435210||1|FNDC1|HGNC||protein_coding|||Low_complexity_(Seg):Seg&PROSITE_profiles:PS50325|ENST00000340366.6:c.4223_4240delCCACCACCCGCCGCACGA|ENSP00000342460.6:p.Thr1409_Thr1414del|CCACCACCCGCCGCACGA:0.2190|-:0.71|-:0.87|-:0.62|-:0.91|-:0.671548|-:0.870618||1&0||||,-|ENSG00000164694|ENST00000297267|Transcript|inframe_deletion|4612-4629|4412-4429|1471-1477|ATTRRTT/A|gCCACCACCCGCCGCACGAcc/gcc|COSM1441915&rs141435210||1|FNDC1|HGNC|21184|protein_coding|||Low_complexity_(Seg):Seg&PROSITE_profiles:PS50325|ENST00000297267.9:c.4412_4429delCCACCACCCGCCGCACGA|ENSP00000297267.9:p.Thr1472_Thr1477del|CCACCACCCGCCGCACGA:0.2190|-:0.71|-:0.87|-:0.62|-:0.91|-:0.671548|-:0.870618||1&0||||,-|ENSG00000164694|ENST00000329629|Transcript|inframe_deletion|4098-4115|4100-4117|1367-1373|ATTRRTT/A|gCCACCACCCGCCGCACGAcc/gcc|COSM1441915&rs141435210||1|FNDC1|HGNC||protein_coding|||Low_complexity_(Seg):Seg&PROSITE_profiles:PS50325|ENST00000329629.8:c.4098_4115delCCACCACCCGCCGCACGA|ENSP00000333297.8:p.Thr1368_Thr1373del|CCACCACCCGCCGCACGA:0.2190|-:0.71|-:0.87|-:0.62|-:0.91|-:0.671548|-:0.870618||1&0||||
6	170592484	.	TCGGCGCTGTG	TT	.	.	CSQ=T|ENSG00000198719|ENST00000366756|Transcript|feature_truncation|2207-2216|1873-1882|625-628|HSAD/N|CACAGCGCCGac/Aac|||-1|DLL1|HGNC|2908|protein_coding||||ENST00000366756.3:c.1873_1882delCACAGCGCCGinsA|ENSP00000355718.3:p.His625_Asp628delinsAsn|||||||||||||,T|ENSG00000227508|ENST00000438622|Transcript|downstream_gene_variant|||||||3928|1|RP5-894D12.3|Clone_based_vega_gene||lincRNA||||||||||||||||||,T|ENSG00000227508|ENST00000607074|Transcript|downstream_gene_variant|||||||3510|1|RP5-894D12.3|Clone_based_vega_gene||lincRNA||||||||||||||||||,T|ENSG00000227508|ENST00000422894|Transcript|downstream_gene_variant|||||||3928|1|RP5-894D12.3|Clone_based_vega_gene||lincRNA||||||||||||||||||
6	170871046	.	ACAGCAGCAG	A	.	.	CSQ=-|ENSG00000112592|ENST00000392092|Transcript|inframe_deletion|502-510|223-231|75-77|QQQ/-|CAGCAGCAG/-|rs369312237||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000392092.2:c.223_231delCAGCAGCAG|ENSP00000375942.2:p.Gln75_Gln77del|||||||||||||,-|ENSG00000112592|ENST00000230354|Transcript|inframe_deletion|459-467|223-231|75-77|QQQ/-|CAGCAGCAG/-|rs369312237||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000230354.6:c.223_231delCAGCAGCAG|ENSP00000230354.5:p.Gln75_Gln77del|||||||||||||,-|ENSG00000112592|ENST00000423353|Transcript|inframe_deletion|474-482|223-231|75-77|QQQ/-|CAGCAGCAG/-|rs369312237||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000423353.1:c.223_231delCAGCAGCAG|ENSP00000416482.1:p.Gln75_Gln77del|||||||||||||,-|ENSG00000112592|ENST00000540980|Transcript|inframe_deletion|300-308|163-171|55-57|QQQ/-|CAGCAGCAG/-|rs369312237||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000540980.1:c.163_171delCAGCAGCAG|ENSP00000442132.1:p.Gln55_Gln57del|||||||||||||,-|ENSG00000112592|ENST00000421512|Transcript|inframe_deletion|533-541|223-231|75-77|QQQ/-|CAGCAGCAG/-|rs369312237||1|TBP|HGNC|11588|protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000421512.1:c.223_231delCAGCAGCAG|ENSP00000400008.1:p.Gln75_Gln77del|||||||||||||
6	170871046	.	ACAGCAGCAGCAG	A	.	.	CSQ=-|ENSG00000112592|ENST00000392092|Transcript|inframe_deletion|502-513|223-234|75-78|QQQQ/-|CAGCAGCAGCAG/-|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000392092.2:c.223_234delCAGCAGCAGCAG|ENSP00000375942.2:p.Gln75_Gln78del|||||||||||||,-|ENSG00000112592|ENST00000230354|Transcript|inframe_deletion|459-470|223-234|75-78|QQQQ/-|CAGCAGCAGCAG/-|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000230354.6:c.223_234delCAGCAGCAGCAG|ENSP00000230354.5:p.Gln75_Gln78del|||||||||||||,-|ENSG00000112592|ENST00000423353|Transcript|inframe_deletion|474-485|223-234|75-78|QQQQ/-|CAGCAGCAGCAG/-|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000423353.1:c.223_234delCAGCAGCAGCAG|ENSP00000416482.1:p.Gln75_Gln78del|||||||||||||,-|ENSG00000112592|ENST00000540980|Transcript|inframe_deletion|300-311|163-174|55-58|QQQQ/-|CAGCAGCAGCAG/-|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000540980.1:c.163_174delCAGCAGCAGCAG|ENSP00000442132.1:p.Gln55_Gln58del|||||||||||||,-|ENSG00000112592|ENST00000421512|Transcript|inframe_deletion|533-544|223-234|75-78|QQQQ/-|CAGCAGCAGCAG/-|||1|TBP|HGNC|11588|protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000421512.1:c.223_234delCAGCAGCAGCAG|ENSP00000400008.1:p.Gln75_Gln78del|||||||||||||
6	170871046	.	ACAGCAGCAGCAGCAGCAGCAGCAGCAG	A	.	.	CSQ=-|ENSG00000112592|ENST00000392092|Transcript|inframe_deletion|502-528|223-249|75-83|QQQQQQQQQ/-|CAGCAGCAGCAGCAGCAGCAGCAGCAG/-|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000392092.2:c.223_249delCAGCAGCAGCAGCAGCAGCAGCAGCAG|ENSP00000375942.2:p.Gln75_Gln83del|||||||||||||,-|ENSG00000112592|ENST00000230354|Transcript|inframe_deletion|459-485|223-249|75-83|QQQQQQQQQ/-|CAGCAGCAGCAGCAGCAGCAGCAGCAG/-|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000230354.6:c.223_249delCAGCAGCAGCAGCAGCAGCAGCAGCAG|ENSP00000230354.5:p.Gln75_Gln83del|||||||||||||,-|ENSG00000112592|ENST00000423353|Transcript|inframe_deletion|474-500|223-249|75-83|QQQQQQQQQ/-|CAGCAGCAGCAGCAGCAGCAGCAGCAG/-|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000423353.1:c.223_249delCAGCAGCAGCAGCAGCAGCAGCAGCAG|ENSP00000416482.1:p.Gln75_Gln83del|||||||||||||,-|ENSG00000112592|ENST00000540980|Transcript|inframe_deletion|300-326|163-189|55-63|QQQQQQQQQ/-|CAGCAGCAGCAGCAGCAGCAGCAGCAG/-|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000540980.1:c.163_189delCAGCAGCAGCAGCAGCAGCAGCAGCAG|ENSP00000442132.1:p.Gln55_Gln63del|||||||||||||,-|ENSG00000112592|ENST00000421512|Transcript|inframe_deletion|533-559|223-249|75-83|QQQQQQQQQ/-|CAGCAGCAGCAGCAGCAGCAGCAGCAG/-|||1|TBP|HGNC|11588|protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000421512.1:c.223_249delCAGCAGCAGCAGCAGCAGCAGCAGCAG|ENSP00000400008.1:p.Gln75_Gln83del|||||||||||||
6	170871051	.	A	AACA	.	.	CSQ=ACA|ENSG00000112592|ENST00000392092|Transcript|inframe_insertion|506-507|227-228|76|Q/QQ|cag/caACAg|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000392092.2:c.227_228insACA|ENSP00000375942.2:p.Gln76dup|||||||||||||,ACA|ENSG00000112592|ENST00000230354|Transcript|inframe_insertion|463-464|227-228|76|Q/QQ|cag/caACAg|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000230354.6:c.227_228insACA|ENSP00000230354.5:p.Gln76dup|||||||||||||,ACA|ENSG00000112592|ENST00000423353|Transcript|inframe_insertion|478-479|227-228|76|Q/QQ|cag/caACAg|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000423353.1:c.227_228insACA|ENSP00000416482.1:p.Gln76dup|||||||||||||,ACA|ENSG00000112592|ENST00000540980|Transcript|inframe_insertion|304-305|167-168|56|Q/QQ|cag/caACAg|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000540980.1:c.167_168insACA|ENSP00000442132.1:p.Gln56dup|||||||||||||,ACA|ENSG00000112592|ENST00000421512|Transcript|inframe_insertion|537-538|227-228|76|Q/QQ|cag/caACAg|||1|TBP|HGNC|11588|protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000421512.1:c.227_228insACA|ENSP00000400008.1:p.Gln76dup|||||||||||||
6	170871051	.	AGCAGCAGCAG	AA	.	.	CSQ=A|ENSG00000112592|ENST00000392092|Transcript|feature_truncation|507-516|228-237|76-79|QQQQ/Q|caGCAGCAGCAG/caA|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000392092.2:c.228_237delGCAGCAGCAGinsA|ENSP00000375942.2:p.Gln77_Gln79del|||||||||||||,A|ENSG00000112592|ENST00000230354|Transcript|feature_truncation|464-473|228-237|76-79|QQQQ/Q|caGCAGCAGCAG/caA|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000230354.6:c.228_237delGCAGCAGCAGinsA|ENSP00000230354.5:p.Gln77_Gln79del|||||||||||||,A|ENSG00000112592|ENST00000423353|Transcript|feature_truncation|479-488|228-237|76-79|QQQQ/Q|caGCAGCAGCAG/caA|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000423353.1:c.228_237delGCAGCAGCAGinsA|ENSP00000416482.1:p.Gln77_Gln79del|||||||||||||,A|ENSG00000112592|ENST00000540980|Transcript|feature_truncation|305-314|168-177|56-59|QQQQ/Q|caGCAGCAGCAG/caA|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000540980.1:c.168_177delGCAGCAGCAGinsA|ENSP00000442132.1:p.Gln57_Gln59del|||||||||||||,A|ENSG00000112592|ENST00000421512|Transcript|feature_truncation|538-547|228-237|76-79|QQQQ/Q|caGCAGCAGCAG/caA|||1|TBP|HGNC|11588|protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000421512.1:c.228_237delGCAGCAGCAGinsA|ENSP00000400008.1:p.Gln77_Gln79del|||||||||||||
6	170871051	.	AGCAGCAGCAGCAG	AA	.	.	CSQ=A|ENSG00000112592|ENST00000392092|Transcript|feature_truncation|507-519|228-240|76-80|QQQQQ/Q|caGCAGCAGCAGCAG/caA|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000392092.2:c.228_240delGCAGCAGCAGCAGinsA|ENSP00000375942.2:p.Gln77_Gln80del|||||||||||||,A|ENSG00000112592|ENST00000230354|Transcript|feature_truncation|464-476|228-240|76-80|QQQQQ/Q|caGCAGCAGCAGCAG/caA|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000230354.6:c.228_240delGCAGCAGCAGCAGinsA|ENSP00000230354.5:p.Gln77_Gln80del|||||||||||||,A|ENSG00000112592|ENST00000423353|Transcript|feature_truncation|479-491|228-240|76-80|QQQQQ/Q|caGCAGCAGCAGCAG/caA|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000423353.1:c.228_240delGCAGCAGCAGCAGinsA|ENSP00000416482.1:p.Gln77_Gln80del|||||||||||||,A|ENSG00000112592|ENST00000540980|Transcript|feature_truncation|305-317|168-180|56-60|QQQQQ/Q|caGCAGCAGCAGCAG/caA|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000540980.1:c.168_180delGCAGCAGCAGCAGinsA|ENSP00000442132.1:p.Gln57_Gln60del|||||||||||||,A|ENSG00000112592|ENST00000421512|Transcript|feature_truncation|538-550|228-240|76-80|QQQQQ/Q|caGCAGCAGCAGCAG/caA|||1|TBP|HGNC|11588|protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000421512.1:c.228_240delGCAGCAGCAGCAGinsA|ENSP00000400008.1:p.Gln77_Gln80del|||||||||||||
6	170871051	.	AGCAGCAGCAGCAGCAG	AA	.	.	CSQ=A|ENSG00000112592|ENST00000392092|Transcript|feature_truncation|507-522|228-243|76-81|QQQQQQ/Q|caGCAGCAGCAGCAGCAG/caA|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000392092.2:c.228_243delGCAGCAGCAGCAGCAGinsA|ENSP00000375942.2:p.Gln77_Gln81del|||||||||||||,A|ENSG00000112592|ENST00000230354|Transcript|feature_truncation|464-479|228-243|76-81|QQQQQQ/Q|caGCAGCAGCAGCAGCAG/caA|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000230354.6:c.228_243delGCAGCAGCAGCAGCAGinsA|ENSP00000230354.5:p.Gln77_Gln81del|||||||||||||,A|ENSG00000112592|ENST00000423353|Transcript|feature_truncation|479-494|228-243|76-81|QQQQQQ/Q|caGCAGCAGCAGCAGCAG/caA|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000423353.1:c.228_243delGCAGCAGCAGCAGCAGinsA|ENSP00000416482.1:p.Gln77_Gln81del|||||||||||||,A|ENSG00000112592|ENST00000540980|Transcript|feature_truncation|305-320|168-183|56-61|QQQQQQ/Q|caGCAGCAGCAGCAGCAG/caA|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000540980.1:c.168_183delGCAGCAGCAGCAGCAGinsA|ENSP00000442132.1:p.Gln57_Gln61del|||||||||||||,A|ENSG00000112592|ENST00000421512|Transcript|feature_truncation|538-553|228-243|76-81|QQQQQQ/Q|caGCAGCAGCAGCAGCAG/caA|||1|TBP|HGNC|11588|protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000421512.1:c.228_243delGCAGCAGCAGCAGCAGinsA|ENSP00000400008.1:p.Gln77_Gln81del|||||||||||||
6	170871051	.	AGCAGCAGCAGCAGCAGCAGCAG	AA	.	.	CSQ=A|ENSG00000112592|ENST00000392092|Transcript|feature_truncation|507-528|228-249|76-83|QQQQQQQQ/Q|caGCAGCAGCAGCAGCAGCAGCAG/caA|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000392092.2:c.228_249delGCAGCAGCAGCAGCAGCAGCAGinsA|ENSP00000375942.2:p.Gln77_Gln83del|||||||||||||,A|ENSG00000112592|ENST00000230354|Transcript|feature_truncation|464-485|228-249|76-83|QQQQQQQQ/Q|caGCAGCAGCAGCAGCAGCAGCAG/caA|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000230354.6:c.228_249delGCAGCAGCAGCAGCAGCAGCAGinsA|ENSP00000230354.5:p.Gln77_Gln83del|||||||||||||,A|ENSG00000112592|ENST00000423353|Transcript|feature_truncation|479-500|228-249|76-83|QQQQQQQQ/Q|caGCAGCAGCAGCAGCAGCAGCAG/caA|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000423353.1:c.228_249delGCAGCAGCAGCAGCAGCAGCAGinsA|ENSP00000416482.1:p.Gln77_Gln83del|||||||||||||,A|ENSG00000112592|ENST00000540980|Transcript|feature_truncation|305-326|168-189|56-63|QQQQQQQQ/Q|caGCAGCAGCAGCAGCAGCAGCAG/caA|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000540980.1:c.168_189delGCAGCAGCAGCAGCAGCAGCAGinsA|ENSP00000442132.1:p.Gln57_Gln63del|||||||||||||,A|ENSG00000112592|ENST00000421512|Transcript|feature_truncation|538-559|228-249|76-83|QQQQQQQQ/Q|caGCAGCAGCAGCAGCAGCAGCAG/caA|||1|TBP|HGNC|11588|protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000421512.1:c.228_249delGCAGCAGCAGCAGCAGCAGCAGinsA|ENSP00000400008.1:p.Gln77_Gln83del|||||||||||||
6	170871051	.	AGCAGCAGCAGCAGCAGCAGCAGCAG	AA	.	.	CSQ=A|ENSG00000112592|ENST00000392092|Transcript|feature_truncation|507-531|228-252|76-84|QQQQQQQQQ/Q|caGCAGCAGCAGCAGCAGCAGCAGCAG/caA|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000392092.2:c.228_252delGCAGCAGCAGCAGCAGCAGCAGCAGinsA|ENSP00000375942.2:p.Gln77_Gln84del|||||||||||||,A|ENSG00000112592|ENST00000230354|Transcript|feature_truncation|464-488|228-252|76-84|QQQQQQQQQ/Q|caGCAGCAGCAGCAGCAGCAGCAGCAG/caA|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000230354.6:c.228_252delGCAGCAGCAGCAGCAGCAGCAGCAGinsA|ENSP00000230354.5:p.Gln77_Gln84del|||||||||||||,A|ENSG00000112592|ENST00000423353|Transcript|feature_truncation|479-503|228-252|76-84|QQQQQQQQQ/Q|caGCAGCAGCAGCAGCAGCAGCAGCAG/caA|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000423353.1:c.228_252delGCAGCAGCAGCAGCAGCAGCAGCAGinsA|ENSP00000416482.1:p.Gln77_Gln84del|||||||||||||,A|ENSG00000112592|ENST00000540980|Transcript|feature_truncation|305-329|168-192|56-64|QQQQQQQQQ/Q|caGCAGCAGCAGCAGCAGCAGCAGCAG/caA|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000540980.1:c.168_192delGCAGCAGCAGCAGCAGCAGCAGCAGinsA|ENSP00000442132.1:p.Gln57_Gln64del|||||||||||||,A|ENSG00000112592|ENST00000421512|Transcript|feature_truncation|538-562|228-252|76-84|QQQQQQQQQ/Q|caGCAGCAGCAGCAGCAGCAGCAGCAG/caA|||1|TBP|HGNC|11588|protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000421512.1:c.228_252delGCAGCAGCAGCAGCAGCAGCAGCAGinsA|ENSP00000400008.1:p.Gln77_Gln84del|||||||||||||
6	170871051	.	AGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	AA	.	.	CSQ=A|ENSG00000112592|ENST00000392092|Transcript|feature_truncation|507-537|228-258|76-86|QQQQQQQQQQQ/Q|caGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG/caA|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000392092.2:c.228_258delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGinsA|ENSP00000375942.2:p.Gln77_Gln86del|||||||||||||,A|ENSG00000112592|ENST00000230354|Transcript|feature_truncation|464-494|228-258|76-86|QQQQQQQQQQQ/Q|caGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG/caA|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000230354.6:c.228_258delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGinsA|ENSP00000230354.5:p.Gln77_Gln86del|||||||||||||,A|ENSG00000112592|ENST00000423353|Transcript|feature_truncation|479-509|228-258|76-86|QQQQQQQQQQQ/Q|caGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG/caA|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000423353.1:c.228_258delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGinsA|ENSP00000416482.1:p.Gln77_Gln86del|||||||||||||,A|ENSG00000112592|ENST00000540980|Transcript|feature_truncation|305-335|168-198|56-66|QQQQQQQQQQQ/Q|caGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG/caA|||1|TBP|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000540980.1:c.168_198delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGinsA|ENSP00000442132.1:p.Gln57_Gln66del|||||||||||||,A|ENSG00000112592|ENST00000421512|Transcript|feature_truncation|538-568|228-258|76-86|QQQQQQQQQQQ/Q|caGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG/caA|||1|TBP|HGNC|11588|protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000421512.1:c.228_258delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGinsA|ENSP00000400008.1:p.Gln77_Gln86del|||||||||||||
