#Uploaded_variation	Location	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
.	X:229529-229542	TTA	ENSG00000178605	ENST00000400701	Transcript	frameshift_variant,feature_truncation	118-130	120-132	40-44	-	-	-	-	-1	GTPBP6	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg	ENST00000400701.3:c.118_130delCAGATGATAATGAinsTAA	ENSP00000383537.3:p.Ile42ProfsTer23	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:229529-229542	TTA	ENSG00000178605	ENST00000485332	Transcript	upstream_gene_variant	-	-	-	-	-	-	400	-1	GTPBP6	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:229529-229542	TTA	ENSG00000178605	ENST00000326153	Transcript	frameshift_variant,feature_truncation	120-132	120-132	40-44	-	-	-	-	-1	GTPBP6	HGNC	30189	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg	ENST00000326153.4:c.120_132delCAGATGATAATGAinsTAA	ENSP00000316598.4:p.Ile42ProfsTer23	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:2835984-2836007	AAAACACAAGAAGC	ENSG00000006756	ENST00000494870	Transcript	downstream_gene_variant	-	-	-	-	-	-	2415	-1	ARSD	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:2835984-2836007	AAAACACAAGAAGC	ENSG00000006756	ENST00000217890	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	701-723	-	-	-	-	-	-	-1	ARSD	HGNC	-	processed_transcript	-	-	-	ENST00000217890.6:n.701_723delGATTTTGGTTCTCTCTGCCTGAAinsGCTTCTTGTGTTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:2835984-2836007	AAAACACAAGAAGC	ENSG00000006756	ENST00000559324	Transcript	downstream_gene_variant	-	-	-	-	-	-	2710	-1	ARSD	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:2835984-2836007	AAAACACAAGAAGC	ENSG00000006756	ENST00000495294	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	-1	ARSD	HGNC	-	processed_transcript	-	-	-	ENST00000495294.1:n.119-9161_119-9139delGATTTTGGTTCTCTCTGCCTGAAinsGCTTCTTGTGTTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:2835984-2836007	AAAACACAAGAAGC	ENSG00000006756	ENST00000481340	Transcript	upstream_gene_variant	-	-	-	-	-	-	66	-1	ARSD	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:2835984-2836007	AAAACACAAGAAGC	ENSG00000006756	ENST00000381154	Transcript	feature_truncation	777-799	701-723	234-241	AGVGCLFF/GFLCF	gCCGGCGTGGGCTGCCTGTTTTTC/gGCTTCTTGTGTTTT	-	-	-1	ARSD	HGNC	717	protein_coding	-	-	Transmembrane_helices:Tmhmm,Pfam_domain:PF00884,Superfamily_domains:SSF53649	ENST00000381154.1:c.701_723delGATTTTGGTTCTCTCTGCCTGAAinsGCTTCTTGTGTTTT	ENSP00000370546.1:p.Ala234_Phe240delinsGlyPheLeuCys	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:2835984-2836007	AAAACACAAGAAGC	-	ENSR00000259010	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:13337739-13337760	CCA	ENSG00000123594	ENST00000380622	Transcript	feature_truncation	759-779	294-314	98-105	EYQKLGID/DG	gaATATCAGAAGCTCGGCATTGAt/gaTGGt	-	-	-1	ATXN3L	HGNC	24173	protein_coding	-	-	Pfam_domain:PF02099,PROSITE_profiles:PS50957	ENST00000380622.2:c.294_314delCTAACTCCCCATTCCCTCTTCinsTGG	ENSP00000369996.2:p.Glu98_Asp105delinsAspGly	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:13337739-13337760	CCA	ENSG00000231216	ENST00000431486	Transcript	splice_region_variant,non_coding_exon_variant,nc_transcript_variant,feature_truncation	1937-1957	-	-	-	-	-	-	1	GS1-600G8.3	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000431486.1:n.1937_1957delGAAGAGGGAATGGGGAGTTAGinsCCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000514029	Transcript	inframe_deletion,NMD_transcript_variant	498-536	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000514029.1:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000425199.1:p.Gln68_Gln70del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000514029	Transcript	inframe_deletion,NMD_transcript_variant	498-536	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000514029.1:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000425199.1:p.Gln67_Gln70del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000514029	Transcript	inframe_deletion,NMD_transcript_variant	498-536	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000514029.1:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000425199.1:p.Gln70_Gln71del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000514029	Transcript	inframe_deletion,NMD_transcript_variant	498-536	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000514029.1:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000425199.1:p.Gln66_Gln70del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000514029	Transcript	inframe_deletion,NMD_transcript_variant	498-536	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000514029.1:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000425199.1:p.Gln72del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000514029	Transcript	inframe_insertion,NMD_transcript_variant	498-536	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQQQQQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000514029.1:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000425199.1:p.Gln66_Gln70dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCA	ENSG00000169083	ENST00000514029	Transcript	inframe_deletion,NMD_transcript_variant	498-536	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000514029.1:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCA	ENSP00000425199.1:p.Gln62_Gln70del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000514029	Transcript	inframe_deletion,NMD_transcript_variant	498-536	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000514029.1:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCA	ENSP00000425199.1:p.Gln65_Gln70del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000514029	Transcript	inframe_insertion,NMD_transcript_variant	498-536	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000514029.1:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000425199.1:p.Gln70dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	-	ENSG00000169083	ENST00000514029	Transcript	inframe_deletion,NMD_transcript_variant	498-536	171-209	57-70	LQQQQQQQQQQQQQ/L	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000514029.1:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAA	ENSP00000425199.1:p.Gln58_Gln70del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000514029	Transcript	inframe_insertion,NMD_transcript_variant	498-536	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000514029.1:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000425199.1:p.Gln69_Gln70dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000514029	Transcript	inframe_deletion,NMD_transcript_variant	498-536	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000514029.1:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCA	ENSP00000425199.1:p.Gln64_Gln70del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000504326	Transcript	inframe_deletion	498-536	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000504326.1:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000421155.1:p.Gln68_Gln70del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000504326	Transcript	inframe_deletion	498-536	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000504326.1:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000421155.1:p.Gln67_Gln70del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000504326	Transcript	inframe_deletion	498-536	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000504326.1:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000421155.1:p.Gln70_Gln71del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000504326	Transcript	inframe_deletion	498-536	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000504326.1:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000421155.1:p.Gln66_Gln70del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000504326	Transcript	inframe_deletion	498-536	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000504326.1:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000421155.1:p.Gln72del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000504326	Transcript	inframe_insertion	498-536	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQQQQQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000504326.1:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000421155.1:p.Gln66_Gln70dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCA	ENSG00000169083	ENST00000504326	Transcript	inframe_deletion	498-536	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000504326.1:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCA	ENSP00000421155.1:p.Gln62_Gln70del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000504326	Transcript	inframe_deletion	498-536	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000504326.1:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCA	ENSP00000421155.1:p.Gln65_Gln70del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000504326	Transcript	inframe_insertion	498-536	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000504326.1:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000421155.1:p.Gln70dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	-	ENSG00000169083	ENST00000504326	Transcript	inframe_deletion	498-536	171-209	57-70	LQQQQQQQQQQQQQ/L	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000504326.1:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAA	ENSP00000421155.1:p.Gln58_Gln70del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000504326	Transcript	inframe_insertion	498-536	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000504326.1:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000421155.1:p.Gln69_Gln70dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000504326	Transcript	inframe_deletion	498-536	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000504326.1:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCA	ENSP00000421155.1:p.Gln64_Gln70del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000396044	Transcript	inframe_deletion	174-212	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000396044.3:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000379359.3:p.Gln68_Gln70del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000396044	Transcript	inframe_deletion	174-212	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000396044.3:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000379359.3:p.Gln67_Gln70del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000396044	Transcript	inframe_deletion	174-212	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000396044.3:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000379359.3:p.Gln70_Gln71del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000396044	Transcript	inframe_deletion	174-212	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000396044.3:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000379359.3:p.Gln66_Gln70del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000396044	Transcript	inframe_deletion	174-212	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000396044.3:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000379359.3:p.Gln72del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000396044	Transcript	inframe_insertion	174-212	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQQQQQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000396044.3:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000379359.3:p.Gln66_Gln70dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCA	ENSG00000169083	ENST00000396044	Transcript	inframe_deletion	174-212	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000396044.3:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCA	ENSP00000379359.3:p.Gln62_Gln70del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000396044	Transcript	inframe_deletion	174-212	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000396044.3:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCA	ENSP00000379359.3:p.Gln65_Gln70del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000396044	Transcript	inframe_insertion	174-212	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000396044.3:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000379359.3:p.Gln70dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	-	ENSG00000169083	ENST00000396044	Transcript	inframe_deletion	174-212	171-209	57-70	LQQQQQQQQQQQQQ/L	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000396044.3:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAA	ENSP00000379359.3:p.Gln58_Gln70del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000396044	Transcript	inframe_insertion	174-212	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000396044.3:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000379359.3:p.Gln69_Gln70dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000396044	Transcript	inframe_deletion	174-212	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000396044.3:c.171_209delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCA	ENSP00000379359.3:p.Gln64_Gln70del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000513847	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	498-536	-	-	-	-	-	-	1	AR	HGNC	-	processed_transcript	-	-	-	ENST00000513847.1:n.498_536delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000513847	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	498-536	-	-	-	-	-	-	1	AR	HGNC	-	processed_transcript	-	-	-	ENST00000513847.1:n.498_536delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000513847	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	498-536	-	-	-	-	-	-	1	AR	HGNC	-	processed_transcript	-	-	-	ENST00000513847.1:n.498_536delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000513847	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	498-536	-	-	-	-	-	-	1	AR	HGNC	-	processed_transcript	-	-	-	ENST00000513847.1:n.498_536delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000513847	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	498-536	-	-	-	-	-	-	1	AR	HGNC	-	processed_transcript	-	-	-	ENST00000513847.1:n.498_536delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000513847	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	498-536	-	-	-	-	-	-	1	AR	HGNC	-	processed_transcript	-	-	-	ENST00000513847.1:n.498_536delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCA	ENSG00000169083	ENST00000513847	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	498-536	-	-	-	-	-	-	1	AR	HGNC	-	processed_transcript	-	-	-	ENST00000513847.1:n.498_536delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000513847	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	498-536	-	-	-	-	-	-	1	AR	HGNC	-	processed_transcript	-	-	-	ENST00000513847.1:n.498_536delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000513847	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	498-536	-	-	-	-	-	-	1	AR	HGNC	-	processed_transcript	-	-	-	ENST00000513847.1:n.498_536delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	-	ENSG00000169083	ENST00000513847	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	498-536	-	-	-	-	-	-	1	AR	HGNC	-	processed_transcript	-	-	-	ENST00000513847.1:n.498_536delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000513847	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	498-536	-	-	-	-	-	-	1	AR	HGNC	-	processed_transcript	-	-	-	ENST00000513847.1:n.498_536delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000513847	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	498-536	-	-	-	-	-	-	1	AR	HGNC	-	processed_transcript	-	-	-	ENST00000513847.1:n.498_536delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAinsGCAGCAGCAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000374690	Transcript	inframe_deletion	695-733	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	644	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000374690.3:c.171_209delAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAATinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000363822.3:p.Gln68_Gln70del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000374690	Transcript	inframe_deletion	695-733	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	644	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000374690.3:c.171_209delAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAATinsGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000363822.3:p.Gln67_Gln70del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000374690	Transcript	inframe_deletion	695-733	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	644	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000374690.3:c.171_209delAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAATinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000363822.3:p.Gln70_Gln71del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000374690	Transcript	inframe_deletion	695-733	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	644	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000374690.3:c.171_209delAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAATinsGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000363822.3:p.Gln66_Gln70del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000374690	Transcript	inframe_deletion	695-733	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	644	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000374690.3:c.171_209delAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAATinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000363822.3:p.Gln72del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000374690	Transcript	inframe_insertion	695-733	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQQQQQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	644	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000374690.3:c.171_209delAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAATinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000363822.3:p.Gln66_Gln70dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCA	ENSG00000169083	ENST00000374690	Transcript	inframe_deletion	695-733	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAg	-	-	1	AR	HGNC	644	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000374690.3:c.171_209delAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAATinsGCAGCAGCAGCA	ENSP00000363822.3:p.Gln62_Gln70del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000374690	Transcript	inframe_deletion	695-733	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	644	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000374690.3:c.171_209delAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAATinsGCAGCAGCAGCAGCAGCAGCA	ENSP00000363822.3:p.Gln65_Gln70del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000374690	Transcript	inframe_insertion	695-733	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	644	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000374690.3:c.171_209delAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAATinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000363822.3:p.Gln70dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	-	ENSG00000169083	ENST00000374690	Transcript	inframe_deletion	695-733	171-209	57-70	LQQQQQQQQQQQQQ/L	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	644	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000374690.3:c.171_209delAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAAT	ENSP00000363822.3:p.Gln58_Gln70del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000374690	Transcript	inframe_insertion	695-733	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQQQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	644	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000374690.3:c.171_209delAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAATinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000363822.3:p.Gln69_Gln70dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765197	GCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000374690	Transcript	inframe_deletion	695-733	171-209	57-70	LQQQQQQQQQQQQQ/LQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	644	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000374690.3:c.171_209delAGATAGGCTGGAGCCTCAGCTATGGAATTAGCCCTGAATinsGCAGCAGCAGCAGCAGCA	ENSP00000363822.3:p.Gln64_Gln70del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765191	-	ENSG00000169083	ENST00000514029	Transcript	inframe_deletion,NMD_transcript_variant	498-530	171-203	57-68	LQQQQQQQQQQQ/L	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000514029.1:c.171_203delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGC	ENSP00000425199.1:p.Gln58_Gln68del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765191	-	ENSG00000169083	ENST00000504326	Transcript	inframe_deletion	498-530	171-203	57-68	LQQQQQQQQQQQ/L	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000504326.1:c.171_203delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGC	ENSP00000421155.1:p.Gln58_Gln68del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765191	-	ENSG00000169083	ENST00000396044	Transcript	inframe_deletion	174-206	171-203	57-68	LQQQQQQQQQQQ/L	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000396044.3:c.171_203delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGC	ENSP00000379359.3:p.Gln58_Gln68del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765191	-	ENSG00000169083	ENST00000513847	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	498-530	-	-	-	-	-	-	1	AR	HGNC	-	processed_transcript	-	-	-	ENST00000513847.1:n.498_530delAAGATAGGCTGGAGCCTCAGCTATGGAATTAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765191	-	ENSG00000169083	ENST00000374690	Transcript	inframe_deletion	695-727	171-203	57-68	LQQQQQQQQQQQ/L	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	644	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000374690.3:c.171_203delAGATAGGCTGGAGCCTCAGCTATGGAATTAGCC	ENSP00000363822.3:p.Gln58_Gln68del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765188	-	ENSG00000169083	ENST00000514029	Transcript	inframe_deletion,NMD_transcript_variant	498-527	171-200	57-67	LQQQQQQQQQQ/L	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000514029.1:c.171_200delAAGATAGGCTGGAGCCTCAGCTATGGAATT	ENSP00000425199.1:p.Gln58_Gln67del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765188	-	ENSG00000169083	ENST00000504326	Transcript	inframe_deletion	498-527	171-200	57-67	LQQQQQQQQQQ/L	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000504326.1:c.171_200delAAGATAGGCTGGAGCCTCAGCTATGGAATT	ENSP00000421155.1:p.Gln58_Gln67del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765188	-	ENSG00000169083	ENST00000396044	Transcript	inframe_deletion	174-203	171-200	57-67	LQQQQQQQQQQ/L	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000396044.3:c.171_200delAAGATAGGCTGGAGCCTCAGCTATGGAATT	ENSP00000379359.3:p.Gln58_Gln67del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765188	-	ENSG00000169083	ENST00000513847	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	498-527	-	-	-	-	-	-	1	AR	HGNC	-	processed_transcript	-	-	-	ENST00000513847.1:n.498_527delAAGATAGGCTGGAGCCTCAGCTATGGAATT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765188	-	ENSG00000169083	ENST00000374690	Transcript	inframe_deletion	695-724	171-200	57-67	LQQQQQQQQQQ/L	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	644	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000374690.3:c.171_200delAGATAGGCTGGAGCCTCAGCTATGGAATTA	ENSP00000363822.3:p.Gln58_Gln67del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765185	-	ENSG00000169083	ENST00000514029	Transcript	inframe_deletion,NMD_transcript_variant	498-524	171-197	57-66	LQQQQQQQQQ/L	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000514029.1:c.171_197delAAGATAGGCTGGAGCCTCAGCTATGGA	ENSP00000425199.1:p.Gln58_Gln66del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765185	GCAGCAGCAGCA	ENSG00000169083	ENST00000514029	Transcript	inframe_deletion,NMD_transcript_variant	498-524	171-197	57-66	LQQQQQQQQQ/LQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000514029.1:c.171_197delAAGATAGGCTGGAGCCTCAGCTATGGAinsGCAGCAGCAGCA	ENSP00000425199.1:p.Gln62_Gln66del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765185	-	ENSG00000169083	ENST00000504326	Transcript	inframe_deletion	498-524	171-197	57-66	LQQQQQQQQQ/L	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000504326.1:c.171_197delAAGATAGGCTGGAGCCTCAGCTATGGA	ENSP00000421155.1:p.Gln58_Gln66del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765185	GCAGCAGCAGCA	ENSG00000169083	ENST00000504326	Transcript	inframe_deletion	498-524	171-197	57-66	LQQQQQQQQQ/LQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000504326.1:c.171_197delAAGATAGGCTGGAGCCTCAGCTATGGAinsGCAGCAGCAGCA	ENSP00000421155.1:p.Gln62_Gln66del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765185	-	ENSG00000169083	ENST00000396044	Transcript	inframe_deletion	174-200	171-197	57-66	LQQQQQQQQQ/L	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000396044.3:c.171_197delAAGATAGGCTGGAGCCTCAGCTATGGA	ENSP00000379359.3:p.Gln58_Gln66del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765185	GCAGCAGCAGCA	ENSG00000169083	ENST00000396044	Transcript	inframe_deletion	174-200	171-197	57-66	LQQQQQQQQQ/LQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000396044.3:c.171_197delAAGATAGGCTGGAGCCTCAGCTATGGAinsGCAGCAGCAGCA	ENSP00000379359.3:p.Gln62_Gln66del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765185	-	ENSG00000169083	ENST00000513847	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	498-524	-	-	-	-	-	-	1	AR	HGNC	-	processed_transcript	-	-	-	ENST00000513847.1:n.498_524delAAGATAGGCTGGAGCCTCAGCTATGGA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765185	GCAGCAGCAGCA	ENSG00000169083	ENST00000513847	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	498-524	-	-	-	-	-	-	1	AR	HGNC	-	processed_transcript	-	-	-	ENST00000513847.1:n.498_524delAAGATAGGCTGGAGCCTCAGCTATGGAinsGCAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765185	-	ENSG00000169083	ENST00000374690	Transcript	inframe_deletion	695-721	171-197	57-66	LQQQQQQQQQ/L	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	644	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000374690.3:c.171_197delAGATAGGCTGGAGCCTCAGCTATGGAA	ENSP00000363822.3:p.Gln58_Gln66del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765185	GCAGCAGCAGCA	ENSG00000169083	ENST00000374690	Transcript	inframe_deletion	695-721	171-197	57-66	LQQQQQQQQQ/LQQQQ	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAg	-	-	1	AR	HGNC	644	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000374690.3:c.171_197delAGATAGGCTGGAGCCTCAGCTATGGAAinsGCAGCAGCAGCA	ENSP00000363822.3:p.Gln62_Gln66del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765182	-	ENSG00000169083	ENST00000514029	Transcript	inframe_deletion,NMD_transcript_variant	498-521	171-194	57-65	LQQQQQQQQ/L	ctGCAGCAGCAGCAGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000514029.1:c.171_194delAAGATAGGCTGGAGCCTCAGCTAT	ENSP00000425199.1:p.Gln58_Gln65del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765182	-	ENSG00000169083	ENST00000504326	Transcript	inframe_deletion	498-521	171-194	57-65	LQQQQQQQQ/L	ctGCAGCAGCAGCAGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000504326.1:c.171_194delAAGATAGGCTGGAGCCTCAGCTAT	ENSP00000421155.1:p.Gln58_Gln65del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765182	-	ENSG00000169083	ENST00000396044	Transcript	inframe_deletion	174-197	171-194	57-65	LQQQQQQQQ/L	ctGCAGCAGCAGCAGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000396044.3:c.171_194delAAGATAGGCTGGAGCCTCAGCTAT	ENSP00000379359.3:p.Gln58_Gln65del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765182	-	ENSG00000169083	ENST00000513847	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	498-521	-	-	-	-	-	-	1	AR	HGNC	-	processed_transcript	-	-	-	ENST00000513847.1:n.498_521delAAGATAGGCTGGAGCCTCAGCTAT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765182	-	ENSG00000169083	ENST00000374690	Transcript	inframe_deletion	695-718	171-194	57-65	LQQQQQQQQ/L	ctGCAGCAGCAGCAGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	644	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000374690.3:c.171_194delAGATAGGCTGGAGCCTCAGCTATG	ENSP00000363822.3:p.Gln58_Gln65del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765179	-	ENSG00000169083	ENST00000514029	Transcript	inframe_deletion,NMD_transcript_variant	498-518	171-191	57-64	LQQQQQQQ/L	ctGCAGCAGCAGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000514029.1:c.171_191delAAGATAGGCTGGAGCCTCAGC	ENSP00000425199.1:p.Gln58_Gln64del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765179	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000514029	Transcript	inframe_insertion,NMD_transcript_variant	498-518	171-191	57-64	LQQQQQQQ/LQQQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000514029.1:c.171_191delAAGATAGGCTGGAGCCTCAGCinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000425199.1:p.Gln62_Gln64dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765179	-	ENSG00000169083	ENST00000504326	Transcript	inframe_deletion	498-518	171-191	57-64	LQQQQQQQ/L	ctGCAGCAGCAGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000504326.1:c.171_191delAAGATAGGCTGGAGCCTCAGC	ENSP00000421155.1:p.Gln58_Gln64del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765179	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000504326	Transcript	inframe_insertion	498-518	171-191	57-64	LQQQQQQQ/LQQQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000504326.1:c.171_191delAAGATAGGCTGGAGCCTCAGCinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000421155.1:p.Gln62_Gln64dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765179	-	ENSG00000169083	ENST00000396044	Transcript	inframe_deletion	174-194	171-191	57-64	LQQQQQQQ/L	ctGCAGCAGCAGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000396044.3:c.171_191delAAGATAGGCTGGAGCCTCAGC	ENSP00000379359.3:p.Gln58_Gln64del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765179	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000396044	Transcript	inframe_insertion	174-194	171-191	57-64	LQQQQQQQ/LQQQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000396044.3:c.171_191delAAGATAGGCTGGAGCCTCAGCinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000379359.3:p.Gln62_Gln64dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765179	-	ENSG00000169083	ENST00000513847	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	498-518	-	-	-	-	-	-	1	AR	HGNC	-	processed_transcript	-	-	-	ENST00000513847.1:n.498_518delAAGATAGGCTGGAGCCTCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765179	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000513847	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	498-518	-	-	-	-	-	-	1	AR	HGNC	-	processed_transcript	-	-	-	ENST00000513847.1:n.498_518delAAGATAGGCTGGAGCCTCAGCinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765179	-	ENSG00000169083	ENST00000374690	Transcript	inframe_deletion	695-715	171-191	57-64	LQQQQQQQ/L	ctGCAGCAGCAGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	644	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000374690.3:c.171_191delAGATAGGCTGGAGCCTCAGCT	ENSP00000363822.3:p.Gln58_Gln64del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765179	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000374690	Transcript	inframe_insertion	695-715	171-191	57-64	LQQQQQQQ/LQQQQQQQQQQ	ctGCAGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	644	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000374690.3:c.171_191delAGATAGGCTGGAGCCTCAGCTinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000363822.3:p.Gln62_Gln64dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765176	-	ENSG00000169083	ENST00000514029	Transcript	inframe_deletion,NMD_transcript_variant	498-515	171-188	57-63	LQQQQQQ/L	ctGCAGCAGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000514029.1:c.171_188delAAGATAGGCTGGAGCCTC	ENSP00000425199.1:p.Gln58_Gln63del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765176	GCAGCAGCA	ENSG00000169083	ENST00000514029	Transcript	inframe_deletion,NMD_transcript_variant	498-515	171-188	57-63	LQQQQQQ/LQQQ	ctGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAg	-	-	1	AR	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000514029.1:c.171_188delAAGATAGGCTGGAGCCTCinsGCAGCAGCA	ENSP00000425199.1:p.Gln61_Gln63del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765176	-	ENSG00000169083	ENST00000504326	Transcript	inframe_deletion	498-515	171-188	57-63	LQQQQQQ/L	ctGCAGCAGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000504326.1:c.171_188delAAGATAGGCTGGAGCCTC	ENSP00000421155.1:p.Gln58_Gln63del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765176	GCAGCAGCA	ENSG00000169083	ENST00000504326	Transcript	inframe_deletion	498-515	171-188	57-63	LQQQQQQ/LQQQ	ctGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000504326.1:c.171_188delAAGATAGGCTGGAGCCTCinsGCAGCAGCA	ENSP00000421155.1:p.Gln61_Gln63del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765176	-	ENSG00000169083	ENST00000396044	Transcript	inframe_deletion	174-191	171-188	57-63	LQQQQQQ/L	ctGCAGCAGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000396044.3:c.171_188delAAGATAGGCTGGAGCCTC	ENSP00000379359.3:p.Gln58_Gln63del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765176	GCAGCAGCA	ENSG00000169083	ENST00000396044	Transcript	inframe_deletion	174-191	171-188	57-63	LQQQQQQ/LQQQ	ctGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000396044.3:c.171_188delAAGATAGGCTGGAGCCTCinsGCAGCAGCA	ENSP00000379359.3:p.Gln61_Gln63del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765176	-	ENSG00000169083	ENST00000513847	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	498-515	-	-	-	-	-	-	1	AR	HGNC	-	processed_transcript	-	-	-	ENST00000513847.1:n.498_515delAAGATAGGCTGGAGCCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765176	GCAGCAGCA	ENSG00000169083	ENST00000513847	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	498-515	-	-	-	-	-	-	1	AR	HGNC	-	processed_transcript	-	-	-	ENST00000513847.1:n.498_515delAAGATAGGCTGGAGCCTCinsGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765176	-	ENSG00000169083	ENST00000374690	Transcript	inframe_deletion	695-712	171-188	57-63	LQQQQQQ/L	ctGCAGCAGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	644	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000374690.3:c.171_188delAGATAGGCTGGAGCCTCA	ENSP00000363822.3:p.Gln58_Gln63del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765176	GCAGCAGCA	ENSG00000169083	ENST00000374690	Transcript	inframe_deletion	695-712	171-188	57-63	LQQQQQQ/LQQQ	ctGCAGCAGCAGCAGCAGCAg/ctGCAGCAGCAg	-	-	1	AR	HGNC	644	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000374690.3:c.171_188delAGATAGGCTGGAGCCTCAinsGCAGCAGCA	ENSP00000363822.3:p.Gln61_Gln63del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765176	-	ENSG00000169083	ENST00000514029	Transcript	inframe_deletion,NMD_transcript_variant	498-515	171-188	57-63	LQQQQQQ/L	ctGCAGCAGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000514029.1:c.171_188delAAGATAGGCTGGAGCCTC	ENSP00000425199.1:p.Gln58_Gln63del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765176	-	ENSG00000169083	ENST00000504326	Transcript	inframe_deletion	498-515	171-188	57-63	LQQQQQQ/L	ctGCAGCAGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000504326.1:c.171_188delAAGATAGGCTGGAGCCTC	ENSP00000421155.1:p.Gln58_Gln63del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765176	-	ENSG00000169083	ENST00000396044	Transcript	inframe_deletion	174-191	171-188	57-63	LQQQQQQ/L	ctGCAGCAGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000396044.3:c.171_188delAAGATAGGCTGGAGCCTC	ENSP00000379359.3:p.Gln58_Gln63del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765176	-	ENSG00000169083	ENST00000513847	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	498-515	-	-	-	-	-	-	1	AR	HGNC	-	processed_transcript	-	-	-	ENST00000513847.1:n.498_515delAAGATAGGCTGGAGCCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765176	-	ENSG00000169083	ENST00000374690	Transcript	inframe_deletion	695-712	171-188	57-63	LQQQQQQ/L	ctGCAGCAGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	644	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000374690.3:c.171_188delAGATAGGCTGGAGCCTCA	ENSP00000363822.3:p.Gln58_Gln63del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765170	-	ENSG00000169083	ENST00000514029	Transcript	inframe_deletion,NMD_transcript_variant	498-509	171-182	57-61	LQQQQ/L	ctGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000514029.1:c.171_182delAAGATAGGCTGG	ENSP00000425199.1:p.Gln58_Gln61del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765170	GCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000514029	Transcript	inframe_insertion,NMD_transcript_variant	498-509	171-182	57-61	LQQQQ/LQQQQQQ	ctGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000514029.1:c.171_182delAAGATAGGCTGGinsGCAGCAGCAGCAGCAGCA	ENSP00000425199.1:p.Gln60_Gln61dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765170	-	ENSG00000169083	ENST00000504326	Transcript	inframe_deletion	498-509	171-182	57-61	LQQQQ/L	ctGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000504326.1:c.171_182delAAGATAGGCTGG	ENSP00000421155.1:p.Gln58_Gln61del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765170	GCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000504326	Transcript	inframe_insertion	498-509	171-182	57-61	LQQQQ/LQQQQQQ	ctGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000504326.1:c.171_182delAAGATAGGCTGGinsGCAGCAGCAGCAGCAGCA	ENSP00000421155.1:p.Gln60_Gln61dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765170	-	ENSG00000169083	ENST00000396044	Transcript	inframe_deletion	174-185	171-182	57-61	LQQQQ/L	ctGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000396044.3:c.171_182delAAGATAGGCTGG	ENSP00000379359.3:p.Gln58_Gln61del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765170	GCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000396044	Transcript	inframe_insertion	174-185	171-182	57-61	LQQQQ/LQQQQQQ	ctGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000396044.3:c.171_182delAAGATAGGCTGGinsGCAGCAGCAGCAGCAGCA	ENSP00000379359.3:p.Gln60_Gln61dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765170	-	ENSG00000169083	ENST00000513847	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	498-509	-	-	-	-	-	-	1	AR	HGNC	-	processed_transcript	-	-	-	ENST00000513847.1:n.498_509delAAGATAGGCTGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765170	GCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000513847	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	498-509	-	-	-	-	-	-	1	AR	HGNC	-	processed_transcript	-	-	-	ENST00000513847.1:n.498_509delAAGATAGGCTGGinsGCAGCAGCAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765170	-	ENSG00000169083	ENST00000374690	Transcript	inframe_deletion	695-706	171-182	57-61	LQQQQ/L	ctGCAGCAGCAGCAg/ctg	-	-	1	AR	HGNC	644	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000374690.3:c.171_182delAGATAGGCTGGA	ENSP00000363822.3:p.Gln58_Gln61del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765170	GCAGCAGCAGCAGCAGCA	ENSG00000169083	ENST00000374690	Transcript	inframe_insertion	695-706	171-182	57-61	LQQQQ/LQQQQQQ	ctGCAGCAGCAGCAg/ctGCAGCAGCAGCAGCAGCAg	-	-	1	AR	HGNC	644	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000374690.3:c.171_182delAGATAGGCTGGAinsGCAGCAGCAGCAGCAGCA	ENSP00000363822.3:p.Gln60_Gln61dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765164	-	ENSG00000169083	ENST00000514029	Transcript	inframe_deletion,NMD_transcript_variant	498-503	171-176	57-59	LQQ/L	ctGCAGCAg/ctg	-	-	1	AR	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000514029.1:c.171_176delAAGATA	ENSP00000425199.1:p.Gln59_Gln60del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765164	-	ENSG00000169083	ENST00000504326	Transcript	inframe_deletion	498-503	171-176	57-59	LQQ/L	ctGCAGCAg/ctg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000504326.1:c.171_176delAAGATA	ENSP00000421155.1:p.Gln59_Gln60del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765164	-	ENSG00000169083	ENST00000396044	Transcript	inframe_deletion	174-179	171-176	57-59	LQQ/L	ctGCAGCAg/ctg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000396044.3:c.171_176delAAGATA	ENSP00000379359.3:p.Gln59_Gln60del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765164	-	ENSG00000169083	ENST00000513847	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	498-503	-	-	-	-	-	-	1	AR	HGNC	-	processed_transcript	-	-	-	ENST00000513847.1:n.498_503delAAGATA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765158-66765164	-	ENSG00000169083	ENST00000374690	Transcript	inframe_deletion	695-700	171-176	57-59	LQQ/L	ctGCAGCAg/ctg	-	-	1	AR	HGNC	644	protein_coding	-	-	Low_complexity_(Seg):Seg,Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000374690.3:c.171_176delAGATAG	ENSP00000363822.3:p.Gln59_Gln60del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765160-66765170	T	ENSG00000169083	ENST00000514029	Transcript	NMD_transcript_variant,feature_truncation	500-509	173-182	58-61	QQQQ/L	cAGCAGCAGCAg/cTg	-	-	1	AR	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000514029.1:c.173_182delGATAGGCTGGinsT	ENSP00000425199.1:p.Gln58_Gln61delinsLeu	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765160-66765170	T	ENSG00000169083	ENST00000504326	Transcript	feature_truncation	500-509	173-182	58-61	QQQQ/L	cAGCAGCAGCAg/cTg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000504326.1:c.173_182delGATAGGCTGGinsT	ENSP00000421155.1:p.Gln58_Gln61delinsLeu	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765160-66765170	T	ENSG00000169083	ENST00000396044	Transcript	feature_truncation	176-185	173-182	58-61	QQQQ/L	cAGCAGCAGCAg/cTg	-	-	1	AR	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000396044.3:c.173_182delGATAGGCTGGinsT	ENSP00000379359.3:p.Gln58_Gln61delinsLeu	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765160-66765170	T	ENSG00000169083	ENST00000513847	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	500-509	-	-	-	-	-	-	1	AR	HGNC	-	processed_transcript	-	-	-	ENST00000513847.1:n.500_509delGATAGGCTGGinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:66765160-66765170	T	ENSG00000169083	ENST00000374690	Transcript	feature_truncation	697-706	173-182	58-61	QQQQ/L	cAGCAGCAGCAg/cTg	-	-	1	AR	HGNC	644	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,Pfam_domain:PF02166,PROSITE_profiles:PS50322	ENST00000374690.3:c.173_182delATAGGCTGGAinsT	ENSP00000363822.3:p.Gln58_Gln61delinsLeu	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:114425195	AACGCCCACAGCGGAGGCCGCTCGCCC	ENSG00000130224	ENST00000538422	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs55659078	-	-1	LRCH2	HGNC	-	protein_coding	-	-	-	ENST00000538422.1:c.350-2263_350-2262insGGGCGAGCGGCCTCCGCTGTGGGCGTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:114425195	AACGCCCACAGCGGAGGCCGCTCGCCC	ENSG00000130224	ENST00000317135	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs55659078	-	-1	LRCH2	HGNC	29292	protein_coding	-	-	-	ENST00000317135.8:c.350-2263_350-2262insGGGCGAGCGGCCTCCGCTGTGGGCGTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:114425195	AACGCCCACAGCGGAGGCCGCTCGCCC	ENSG00000175718	ENST00000424776	Transcript	inframe_insertion	1233-1234	1191-1192	397-398	-/NAHSGGRSP	-/AACGCCCACAGCGGAGGCCGCTCGCCC	rs55659078	-	1	RBMXL3	HGNC	26859	protein_coding	-	-	PROSITE_profiles:PS50315	ENST00000424776.3:c.1191_1192insAACGCCCACAGCGGAGGCCGCTCGCCC	ENSP00000417451.2:p.Pro397_Asp398insAsnAlaHisSerGlyGlyArgSerPro	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:114425195-114425199	AACGCCCACAGCGGAGGCCGCTCGCCCGACA	ENSG00000130224	ENST00000538422	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	LRCH2	HGNC	-	protein_coding	-	-	-	ENST00000538422.1:c.350-2266_350-2263delAAATinsTGTCGGGCGAGCGGCCTCCGCTGTGGGCGTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:114425195-114425199	AACGCCCACAGCGGAGGCCGCTCGCCCGACA	ENSG00000130224	ENST00000317135	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	LRCH2	HGNC	29292	protein_coding	-	-	-	ENST00000317135.8:c.350-2266_350-2263delAAATinsTGTCGGGCGAGCGGCCTCCGCTGTGGGCGTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:114425195-114425199	AACGCCCACAGCGGAGGCCGCTCGCCCGACA	ENSG00000175718	ENST00000424776	Transcript	inframe_insertion	1234-1237	1192-1195	398-399	DA/NAHSGGRSPDT	GACGcc/AACGCCCACAGCGGAGGCCGCTCGCCCGACAcc	-	-	1	RBMXL3	HGNC	26859	protein_coding	-	-	PROSITE_profiles:PS50315	ENST00000424776.3:c.1192_1195delTTTTinsAACGCCCACAGCGGAGGCCGCTCGCCCGACA	ENSP00000417451.2:p.Asp398_Ala399delinsAsnAlaHisSerGlyGlyArgSerProAspThr	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153050158-153050163	CCCGTCCCC	ENSG00000067829	ENST00000497043	Transcript	downstream_gene_variant	-	-	-	-	-	-	2419	-1	IDH3G	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153050158-153050163	CCCGTCCCC	ENSG00000184343	ENST00000370108	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	SRPK3	HGNC	-	protein_coding	-	-	-	ENST00000370108.3:c.1150-46_1150-42delGCTAGinsCCCGTCCCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153050158-153050163	CCCGTCCCC	ENSG00000067829	ENST00000454076	Transcript	downstream_gene_variant	-	-	-	-	-	-	1059	-1	IDH3G	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153050158-153050163	CCCGTCCCC	ENSG00000067829	ENST00000444450	Transcript	downstream_gene_variant	-	-	-	-	-	-	2093	-1	IDH3G	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153050158-153050163	CCCGTCCCC	ENSG00000184343	ENST00000370100	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	SRPK3	HGNC	-	protein_coding	-	-	-	ENST00000370100.1:c.1024-46_1024-42delCTAGGinsCCCGTCCCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153050158-153050163	CCCGTCCCC	ENSG00000067829	ENST00000495356	Transcript	downstream_gene_variant	-	-	-	-	-	-	2683	-1	IDH3G	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153050158-153050163	CCCGTCCCC	ENSG00000184343	ENST00000489426	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	SRPK3	HGNC	11402	protein_coding	-	-	-	ENST00000489426.1:c.1450-46_1450-42delGCTAGinsCCCGTCCCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153050158-153050163	CCCGTCCCC	ENSG00000184343	ENST00000430541	Transcript	downstream_gene_variant	-	-	-	-	-	-	1835	1	SRPK3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153050158-153050163	CCCGTCCCC	ENSG00000067829	ENST00000461215	Transcript	downstream_gene_variant	-	-	-	-	-	-	3118	-1	IDH3G	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153050158-153050163	CCCGTCCCC	ENSG00000184343	ENST00000393786	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	SRPK3	HGNC	-	protein_coding	-	-	-	ENST00000393786.3:c.1147-46_1147-42delGCTAGinsCCCGTCCCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153050158-153050163	CCCGTCCCC	ENSG00000067829	ENST00000427365	Transcript	downstream_gene_variant	-	-	-	-	-	-	1090	-1	IDH3G	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153050158-153050163	CCCGTCCCC	ENSG00000067829	ENST00000370093	Transcript	downstream_gene_variant	-	-	-	-	-	-	1059	-1	IDH3G	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153050158-153050163	CCCGTCCCC	ENSG00000184343	ENST00000458681	Transcript	frameshift_variant,feature_elongation	1-5	3-7	1-3	-	-	-	-	1	SRPK3	HGNC	-	protein_coding	-	-	-	ENST00000458681.1:c.1_5delGCTAGinsCCCGTCCCC	ENSP00000406166.1:p.Thr2ProfsTer60	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153050158-153050163	CCCGTCCCC	ENSG00000067829	ENST00000217901	Transcript	downstream_gene_variant	-	-	-	-	-	-	1058	-1	IDH3G	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153050158-153050163	CCCGTCCCC	ENSG00000184343	ENST00000370104	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	SRPK3	HGNC	-	protein_coding	-	-	-	ENST00000370104.1:c.1246-46_1246-42delGCTAGinsCCCGTCCCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153050158-153050163	CCCGTCCCC	ENSG00000184343	ENST00000370101	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	SRPK3	HGNC	-	protein_coding	-	-	-	ENST00000370101.3:c.1249-46_1249-42delGCTAGinsCCCGTCCCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153050158-153050163	CCCGTCCCC	ENSG00000067829	ENST00000370092	Transcript	downstream_gene_variant	-	-	-	-	-	-	1058	-1	IDH3G	HGNC	5386	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153050158-153050163	CCCGTCCCC	ENSG00000067829	ENST00000444338	Transcript	downstream_gene_variant	-	-	-	-	-	-	2343	-1	IDH3G	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153151276-153151285	GCCGCCCAGG	ENSG00000198910	ENST00000464967	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	L1CAM	HGNC	-	retained_intron	-	-	-	ENST00000464967.1:n.155-9886_155-9878delACTTGGATGinsCCTGGGCGGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153151276-153151285	GCCGCCCAGG	ENSG00000198910	ENST00000370060	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	L1CAM	HGNC	6470	protein_coding	-	-	-	ENST00000370060.1:c.-109+234_-109+242delACTTGGATGinsCCTGGGCGGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153151276-153151285	GCCGCCCAGG	ENSG00000198910	ENST00000484587	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	L1CAM	HGNC	-	processed_transcript	-	-	-	ENST00000484587.1:n.97+234_97+242delACTTGGATGinsCCTGGGCGGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153151276-153151285	GCCGCCCAGG	ENSG00000198910	ENST00000420165	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	L1CAM	HGNC	-	protein_coding	-	-	-	ENST00000420165.1:c.-191+234_-191+242delTACTTGGATinsCCTGGGCGGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153151276-153151285	GCCGCCCAGG	ENSG00000198910	ENST00000370055	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	L1CAM	HGNC	-	protein_coding	-	-	-	ENST00000370055.1:c.-109+234_-109+242delACTTGGATGinsCCTGGGCGGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153151276-153151285	GCCGCCCAGG	ENSG00000196987	ENST00000452593	Transcript	frameshift_variant,feature_elongation	648-656	649-657	217-219	-	-	-	-	1	LCA10	Uniprot_gn	-	protein_coding	-	-	-	ENST00000452593.1:c.648_656delCATCCAAGTinsGCCGCCCAGG	ENSP00000389835.1:p.Pro217AlafsTer69	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153151276-153151285	GCCGCCCAGG	ENSG00000196987	ENST00000357566	Transcript	frameshift_variant,feature_elongation	648-656	142-150	48-50	-	-	-	-	1	LCA10	Uniprot_gn	-	protein_coding	-	-	-	ENST00000357566.1:c.142_150delCATCCAAGTinsGCCGCCCAGG	ENSP00000350178.1:p.Pro48AlafsTer69	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153151276-153151285	GCCGCCCAGG	ENSG00000198910	ENST00000460553	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	L1CAM	HGNC	-	retained_intron	-	-	-	ENST00000460553.1:n.78+234_78+242delACTTGGATGinsCCTGGGCGGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153151276-153151285	GCCGCCCAGG	-	ENSR00000161604	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153151276-153151287	GCCGCCCAGGTC	ENSG00000198910	ENST00000464967	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	L1CAM	HGNC	-	retained_intron	-	-	-	ENST00000464967.1:n.155-9888_155-9878delGTACTTGGATGinsGACCTGGGCGGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153151276-153151287	GCCGCCCAGGTC	ENSG00000198910	ENST00000370060	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	L1CAM	HGNC	6470	protein_coding	-	-	-	ENST00000370060.1:c.-109+232_-109+242delGTACTTGGATGinsGACCTGGGCGGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153151276-153151287	GCCGCCCAGGTC	ENSG00000198910	ENST00000484587	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	L1CAM	HGNC	-	processed_transcript	-	-	-	ENST00000484587.1:n.97+232_97+242delGTACTTGGATGinsGACCTGGGCGGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153151276-153151287	GCCGCCCAGGTC	ENSG00000198910	ENST00000420165	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	L1CAM	HGNC	-	protein_coding	-	-	-	ENST00000420165.1:c.-191+232_-191+242delGGTACTTGGATinsGACCTGGGCGGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153151276-153151287	GCCGCCCAGGTC	ENSG00000198910	ENST00000370055	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	L1CAM	HGNC	-	protein_coding	-	-	-	ENST00000370055.1:c.-109+232_-109+242delGTACTTGGATGinsGACCTGGGCGGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153151276-153151287	GCCGCCCAGGTC	ENSG00000196987	ENST00000452593	Transcript	frameshift_variant,feature_elongation	648-658	649-659	217-220	-	-	-	-	1	LCA10	Uniprot_gn	-	protein_coding	-	-	-	ENST00000452593.1:c.648_658delCATCCAAGTACinsGCCGCCCAGGTC	ENSP00000389835.1:p.Pro217AlafsTer69	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153151276-153151287	GCCGCCCAGGTC	ENSG00000196987	ENST00000357566	Transcript	frameshift_variant,feature_elongation	648-658	142-152	48-51	-	-	-	-	1	LCA10	Uniprot_gn	-	protein_coding	-	-	-	ENST00000357566.1:c.142_152delCATCCAAGTACinsGCCGCCCAGGTC	ENSP00000350178.1:p.Pro48AlafsTer69	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153151276-153151287	GCCGCCCAGGTC	ENSG00000198910	ENST00000460553	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	L1CAM	HGNC	-	retained_intron	-	-	-	ENST00000460553.1:n.78+232_78+242delGTACTTGGATGinsGACCTGGGCGGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	X:153151276-153151287	GCCGCCCAGGTC	-	ENSR00000161604	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26488469-26488472	GGCGGCTCT	ENSG00000197245	ENST00000374268	Transcript	inframe_insertion	875-877	688-690	230	S/GGS	TCG/GGCGGCTCT	-	-	1	FAM110D	HGNC	25860	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000374268.3:c.688_690delTCGinsGGCGGCTCT	ENSP00000363386.3:p.Gly228_Gly229dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26488469-26488472	GGCGGCTCT	-	ENSR00000161816	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608859	-	ENSG00000158062	ENST00000374215	Transcript	downstream_gene_variant	-	-	-	-	-	-	3092	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608859	-	ENSG00000158062	ENST00000496466	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2276-2323	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000496466.1:n.2276_2323delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608859	-	ENSG00000130695	ENST00000476272	Transcript	downstream_gene_variant	-	-	-	-	-	-	3515	1	CEP85	HGNC	25309	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608859	-	ENSG00000158062	ENST00000436301	Transcript	downstream_gene_variant	-	-	-	-	-	-	2769	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608859	-	ENSG00000130695	ENST00000252992	Transcript	downstream_gene_variant	-	-	-	-	-	-	3513	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608859	-	ENSG00000158062	ENST00000452980	Transcript	downstream_gene_variant	-	-	-	-	-	-	3508	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608859	-	ENSG00000158062	ENST00000374217	Transcript	inframe_deletion	1762-1809	1395-1442	465-481	GPGPSPGPGPGPSPCPG/G	ggTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGa/gga	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374217.2:c.1395_1442delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGG	ENSP00000363334.2:p.Pro466_Gly481del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608859	-	ENSG00000158062	ENST00000374222	Transcript	inframe_deletion	1959-2006	1494-1541	498-514	GPGPSPGPGPGPSPCPG/G	ggTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGa/gga	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374222.1:c.1494_1541delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGG	ENSP00000363339.1:p.Pro499_Gly514del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608859	-	ENSG00000158062	ENST00000357089	Transcript	inframe_deletion	1471-1518	1395-1442	465-481	GPGPSPGPGPGPSPCPG/G	ggTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGa/gga	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000357089.4:c.1395_1442delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGG	ENSP00000349601.4:p.Pro466_Gly481del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608859	-	ENSG00000158062	ENST00000314675	Transcript	inframe_deletion	1214-1261	1134-1181	378-394	GPGPSPGPGPGPSPCPG/G	ggTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGa/gga	-	-	-1	UBXN11	HGNC	30600	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000314675.7:c.1134_1181delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGG	ENSP00000324721.7:p.Pro379_Gly394del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608859	-	ENSG00000158062	ENST00000475591	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2456-2503	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000475591.1:n.2456_2503delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608859	-	ENSG00000158062	ENST00000494942	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2241-2288	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000494942.1:n.2241_2288delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608859	-	ENSG00000158062	ENST00000442942	Transcript	downstream_gene_variant	-	-	-	-	-	-	3575	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608859	-	ENSG00000130695	ENST00000451429	Transcript	downstream_gene_variant	-	-	-	-	-	-	4634	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608859	-	ENSG00000142669	ENST00000319041	Transcript	downstream_gene_variant	-	-	-	-	-	-	871	1	SH3BGRL3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608859	-	ENSG00000158062	ENST00000535108	Transcript	downstream_gene_variant	-	-	-	-	-	-	2626	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608859	-	ENSG00000158062	ENST00000374221	Transcript	inframe_deletion	1708-1755	1494-1541	498-514	GPGPSPGPGPGPSPCPG/G	ggTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGa/gga	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374221.3:c.1494_1541delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGG	ENSP00000363338.3:p.Pro499_Gly514del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608859	-	ENSG00000158062	ENST00000472155	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2559-2606	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000472155.1:n.2559_2606delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608859	-	ENSG00000142669	ENST00000270792	Transcript	downstream_gene_variant	-	-	-	-	-	-	805	1	SH3BGRL3	HGNC	15568	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608859	-	ENSG00000130695	ENST00000453146	Transcript	downstream_gene_variant	-	-	-	-	-	-	3514	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608859	-	ENSG00000130695	ENST00000469609	Transcript	downstream_gene_variant	-	-	-	-	-	-	3514	1	CEP85	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608859	-	ENSG00000158062	ENST00000374223	Transcript	inframe_deletion	1226-1273	765-812	255-271	GPGPSPGPGPGPSPCPG/G	ggTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGa/gga	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374223.1:c.765_812delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGG	ENSP00000363340.1:p.Pro256_Gly271del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608859	-	-	ENSR00000533083	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCGGGACCGGGACTGGG	ENSG00000158062	ENST00000374215	Transcript	downstream_gene_variant	-	-	-	-	-	-	3099	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCAGGACAGGGACTGGA	ENSG00000158062	ENST00000374215	Transcript	downstream_gene_variant	-	-	-	-	-	-	3099	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCGGGACCGGGACTGGG	ENSG00000158062	ENST00000496466	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2283-2323	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000496466.1:n.2283_2323delCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsCCCAGTCCCGGTCCCGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCAGGACAGGGACTGGA	ENSG00000158062	ENST00000496466	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2283-2323	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000496466.1:n.2283_2323delCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsTCCAGTCCCTGTCCTGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCGGGACCGGGACTGGG	ENSG00000130695	ENST00000476272	Transcript	downstream_gene_variant	-	-	-	-	-	-	3515	1	CEP85	HGNC	25309	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCAGGACAGGGACTGGA	ENSG00000130695	ENST00000476272	Transcript	downstream_gene_variant	-	-	-	-	-	-	3515	1	CEP85	HGNC	25309	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCGGGACCGGGACTGGG	ENSG00000158062	ENST00000436301	Transcript	downstream_gene_variant	-	-	-	-	-	-	2776	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCAGGACAGGGACTGGA	ENSG00000158062	ENST00000436301	Transcript	downstream_gene_variant	-	-	-	-	-	-	2776	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCGGGACCGGGACTGGG	ENSG00000130695	ENST00000252992	Transcript	downstream_gene_variant	-	-	-	-	-	-	3513	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCAGGACAGGGACTGGA	ENSG00000130695	ENST00000252992	Transcript	downstream_gene_variant	-	-	-	-	-	-	3513	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCGGGACCGGGACTGGG	ENSG00000158062	ENST00000452980	Transcript	downstream_gene_variant	-	-	-	-	-	-	3515	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCAGGACAGGGACTGGA	ENSG00000158062	ENST00000452980	Transcript	downstream_gene_variant	-	-	-	-	-	-	3515	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCGGGACCGGGACTGGG	ENSG00000158062	ENST00000374217	Transcript	inframe_deletion	1769-1809	1402-1442	468-481	PSPGPGPGPSPCPG/PSPGPG	CCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGa/CCCAGTCCCGGTCCCGGa	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374217.2:c.1402_1442delCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsCCCAGTCCCGGTCCCGG	ENSP00000363334.2:p.Pro474_Gly481del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCAGGACAGGGACTGGA	ENSG00000158062	ENST00000374217	Transcript	feature_truncation	1769-1809	1402-1442	468-481	PSPGPGPGPSPCPG/SSPCPG	CCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGa/TCCAGTCCCTGTCCTGGa	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374217.2:c.1402_1442delCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsTCCAGTCCCTGTCCTGG	ENSP00000363334.2:p.Pro468_Pro476delinsSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCGGGACCGGGACTGGG	ENSG00000158062	ENST00000374222	Transcript	inframe_deletion	1966-2006	1501-1541	501-514	PSPGPGPGPSPCPG/PSPGPG	CCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGa/CCCAGTCCCGGTCCCGGa	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374222.1:c.1501_1541delCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsCCCAGTCCCGGTCCCGG	ENSP00000363339.1:p.Pro507_Gly514del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCAGGACAGGGACTGGA	ENSG00000158062	ENST00000374222	Transcript	feature_truncation	1966-2006	1501-1541	501-514	PSPGPGPGPSPCPG/SSPCPG	CCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGa/TCCAGTCCCTGTCCTGGa	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374222.1:c.1501_1541delCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsTCCAGTCCCTGTCCTGG	ENSP00000363339.1:p.Pro501_Pro509delinsSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCGGGACCGGGACTGGG	ENSG00000158062	ENST00000357089	Transcript	inframe_deletion	1478-1518	1402-1442	468-481	PSPGPGPGPSPCPG/PSPGPG	CCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGa/CCCAGTCCCGGTCCCGGa	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000357089.4:c.1402_1442delCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsCCCAGTCCCGGTCCCGG	ENSP00000349601.4:p.Pro474_Gly481del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCAGGACAGGGACTGGA	ENSG00000158062	ENST00000357089	Transcript	feature_truncation	1478-1518	1402-1442	468-481	PSPGPGPGPSPCPG/SSPCPG	CCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGa/TCCAGTCCCTGTCCTGGa	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000357089.4:c.1402_1442delCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsTCCAGTCCCTGTCCTGG	ENSP00000349601.4:p.Pro468_Pro476delinsSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCGGGACCGGGACTGGG	ENSG00000158062	ENST00000314675	Transcript	inframe_deletion	1221-1261	1141-1181	381-394	PSPGPGPGPSPCPG/PSPGPG	CCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGa/CCCAGTCCCGGTCCCGGa	-	-	-1	UBXN11	HGNC	30600	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000314675.7:c.1141_1181delCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsCCCAGTCCCGGTCCCGG	ENSP00000324721.7:p.Pro387_Gly394del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCAGGACAGGGACTGGA	ENSG00000158062	ENST00000314675	Transcript	feature_truncation	1221-1261	1141-1181	381-394	PSPGPGPGPSPCPG/SSPCPG	CCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGa/TCCAGTCCCTGTCCTGGa	-	-	-1	UBXN11	HGNC	30600	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000314675.7:c.1141_1181delCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsTCCAGTCCCTGTCCTGG	ENSP00000324721.7:p.Pro381_Pro389delinsSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCGGGACCGGGACTGGG	ENSG00000158062	ENST00000475591	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2463-2503	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000475591.1:n.2463_2503delCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsCCCAGTCCCGGTCCCGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCAGGACAGGGACTGGA	ENSG00000158062	ENST00000475591	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2463-2503	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000475591.1:n.2463_2503delCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsTCCAGTCCCTGTCCTGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCGGGACCGGGACTGGG	ENSG00000158062	ENST00000494942	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2248-2288	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000494942.1:n.2248_2288delCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsCCCAGTCCCGGTCCCGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCAGGACAGGGACTGGA	ENSG00000158062	ENST00000494942	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2248-2288	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000494942.1:n.2248_2288delCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsTCCAGTCCCTGTCCTGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCGGGACCGGGACTGGG	ENSG00000158062	ENST00000442942	Transcript	downstream_gene_variant	-	-	-	-	-	-	3582	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCAGGACAGGGACTGGA	ENSG00000158062	ENST00000442942	Transcript	downstream_gene_variant	-	-	-	-	-	-	3582	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCGGGACCGGGACTGGG	ENSG00000130695	ENST00000451429	Transcript	downstream_gene_variant	-	-	-	-	-	-	4634	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCAGGACAGGGACTGGA	ENSG00000130695	ENST00000451429	Transcript	downstream_gene_variant	-	-	-	-	-	-	4634	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCGGGACCGGGACTGGG	ENSG00000142669	ENST00000319041	Transcript	downstream_gene_variant	-	-	-	-	-	-	871	1	SH3BGRL3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCAGGACAGGGACTGGA	ENSG00000142669	ENST00000319041	Transcript	downstream_gene_variant	-	-	-	-	-	-	871	1	SH3BGRL3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCGGGACCGGGACTGGG	ENSG00000158062	ENST00000535108	Transcript	downstream_gene_variant	-	-	-	-	-	-	2633	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCAGGACAGGGACTGGA	ENSG00000158062	ENST00000535108	Transcript	downstream_gene_variant	-	-	-	-	-	-	2633	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCGGGACCGGGACTGGG	ENSG00000158062	ENST00000374221	Transcript	inframe_deletion	1715-1755	1501-1541	501-514	PSPGPGPGPSPCPG/PSPGPG	CCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGa/CCCAGTCCCGGTCCCGGa	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374221.3:c.1501_1541delCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsCCCAGTCCCGGTCCCGG	ENSP00000363338.3:p.Pro507_Gly514del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCAGGACAGGGACTGGA	ENSG00000158062	ENST00000374221	Transcript	feature_truncation	1715-1755	1501-1541	501-514	PSPGPGPGPSPCPG/SSPCPG	CCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGa/TCCAGTCCCTGTCCTGGa	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374221.3:c.1501_1541delCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsTCCAGTCCCTGTCCTGG	ENSP00000363338.3:p.Pro501_Pro509delinsSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCGGGACCGGGACTGGG	ENSG00000158062	ENST00000472155	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2566-2606	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000472155.1:n.2566_2606delCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsCCCAGTCCCGGTCCCGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCAGGACAGGGACTGGA	ENSG00000158062	ENST00000472155	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2566-2606	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000472155.1:n.2566_2606delCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsTCCAGTCCCTGTCCTGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCGGGACCGGGACTGGG	ENSG00000142669	ENST00000270792	Transcript	downstream_gene_variant	-	-	-	-	-	-	805	1	SH3BGRL3	HGNC	15568	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCAGGACAGGGACTGGA	ENSG00000142669	ENST00000270792	Transcript	downstream_gene_variant	-	-	-	-	-	-	805	1	SH3BGRL3	HGNC	15568	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCGGGACCGGGACTGGG	ENSG00000130695	ENST00000453146	Transcript	downstream_gene_variant	-	-	-	-	-	-	3514	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCAGGACAGGGACTGGA	ENSG00000130695	ENST00000453146	Transcript	downstream_gene_variant	-	-	-	-	-	-	3514	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCGGGACCGGGACTGGG	ENSG00000130695	ENST00000469609	Transcript	downstream_gene_variant	-	-	-	-	-	-	3514	1	CEP85	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCAGGACAGGGACTGGA	ENSG00000130695	ENST00000469609	Transcript	downstream_gene_variant	-	-	-	-	-	-	3514	1	CEP85	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCGGGACCGGGACTGGG	ENSG00000158062	ENST00000374223	Transcript	inframe_deletion	1233-1273	772-812	258-271	PSPGPGPGPSPCPG/PSPGPG	CCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGa/CCCAGTCCCGGTCCCGGa	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374223.1:c.772_812delCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsCCCAGTCCCGGTCCCGG	ENSP00000363340.1:p.Pro264_Gly271del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCAGGACAGGGACTGGA	ENSG00000158062	ENST00000374223	Transcript	feature_truncation	1233-1273	772-812	258-271	PSPGPGPGPSPCPG/SSPCPG	CCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGa/TCCAGTCCCTGTCCTGGa	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374223.1:c.772_812delCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsTCCAGTCCCTGTCCTGG	ENSP00000363340.1:p.Pro258_Pro266delinsSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCGGGACCGGGACTGGG	-	ENSR00000533083	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608852	CCAGGACAGGGACTGGA	-	ENSR00000533083	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCGGGACC	ENSG00000158062	ENST00000374215	Transcript	downstream_gene_variant	-	-	-	-	-	-	3108	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCAGGACA	ENSG00000158062	ENST00000374215	Transcript	downstream_gene_variant	-	-	-	-	-	-	3108	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCGGGACC	ENSG00000158062	ENST00000496466	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2292-2323	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000496466.1:n.2292_2323delGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsGGTCCCGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCAGGACA	ENSG00000158062	ENST00000496466	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2292-2323	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000496466.1:n.2292_2323delGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsTGTCCTGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCGGGACC	ENSG00000130695	ENST00000476272	Transcript	downstream_gene_variant	-	-	-	-	-	-	3515	1	CEP85	HGNC	25309	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCAGGACA	ENSG00000130695	ENST00000476272	Transcript	downstream_gene_variant	-	-	-	-	-	-	3515	1	CEP85	HGNC	25309	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCGGGACC	ENSG00000158062	ENST00000436301	Transcript	downstream_gene_variant	-	-	-	-	-	-	2785	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCAGGACA	ENSG00000158062	ENST00000436301	Transcript	downstream_gene_variant	-	-	-	-	-	-	2785	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCGGGACC	ENSG00000130695	ENST00000252992	Transcript	downstream_gene_variant	-	-	-	-	-	-	3513	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCAGGACA	ENSG00000130695	ENST00000252992	Transcript	downstream_gene_variant	-	-	-	-	-	-	3513	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCGGGACC	ENSG00000158062	ENST00000452980	Transcript	downstream_gene_variant	-	-	-	-	-	-	3524	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCAGGACA	ENSG00000158062	ENST00000452980	Transcript	downstream_gene_variant	-	-	-	-	-	-	3524	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCGGGACC	ENSG00000158062	ENST00000374217	Transcript	inframe_deletion	1778-1809	1411-1442	471-481	GPGPGPSPCPG/GPG	GGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGa/GGTCCCGGa	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374217.2:c.1411_1442delGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsGGTCCCGG	ENSP00000363334.2:p.Pro474_Gly481del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCAGGACA	ENSG00000158062	ENST00000374217	Transcript	inframe_deletion	1778-1809	1411-1442	471-481	GPGPGPSPCPG/CPG	GGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGa/TGTCCTGGa	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374217.2:c.1411_1442delGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsTGTCCTGG	ENSP00000363334.2:p.Gly471_Pro478del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCGGGACC	ENSG00000158062	ENST00000374222	Transcript	inframe_deletion	1975-2006	1510-1541	504-514	GPGPGPSPCPG/GPG	GGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGa/GGTCCCGGa	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374222.1:c.1510_1541delGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsGGTCCCGG	ENSP00000363339.1:p.Pro507_Gly514del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCAGGACA	ENSG00000158062	ENST00000374222	Transcript	inframe_deletion	1975-2006	1510-1541	504-514	GPGPGPSPCPG/CPG	GGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGa/TGTCCTGGa	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374222.1:c.1510_1541delGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsTGTCCTGG	ENSP00000363339.1:p.Gly504_Pro511del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCGGGACC	ENSG00000158062	ENST00000357089	Transcript	inframe_deletion	1487-1518	1411-1442	471-481	GPGPGPSPCPG/GPG	GGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGa/GGTCCCGGa	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000357089.4:c.1411_1442delGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsGGTCCCGG	ENSP00000349601.4:p.Pro474_Gly481del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCAGGACA	ENSG00000158062	ENST00000357089	Transcript	inframe_deletion	1487-1518	1411-1442	471-481	GPGPGPSPCPG/CPG	GGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGa/TGTCCTGGa	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000357089.4:c.1411_1442delGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsTGTCCTGG	ENSP00000349601.4:p.Gly471_Pro478del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCGGGACC	ENSG00000158062	ENST00000314675	Transcript	inframe_deletion	1230-1261	1150-1181	384-394	GPGPGPSPCPG/GPG	GGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGa/GGTCCCGGa	-	-	-1	UBXN11	HGNC	30600	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000314675.7:c.1150_1181delGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsGGTCCCGG	ENSP00000324721.7:p.Pro387_Gly394del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCAGGACA	ENSG00000158062	ENST00000314675	Transcript	inframe_deletion	1230-1261	1150-1181	384-394	GPGPGPSPCPG/CPG	GGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGa/TGTCCTGGa	-	-	-1	UBXN11	HGNC	30600	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000314675.7:c.1150_1181delGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsTGTCCTGG	ENSP00000324721.7:p.Gly384_Pro391del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCGGGACC	ENSG00000158062	ENST00000475591	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2472-2503	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000475591.1:n.2472_2503delGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsGGTCCCGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCAGGACA	ENSG00000158062	ENST00000475591	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2472-2503	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000475591.1:n.2472_2503delGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsTGTCCTGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCGGGACC	ENSG00000158062	ENST00000494942	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2257-2288	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000494942.1:n.2257_2288delGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsGGTCCCGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCAGGACA	ENSG00000158062	ENST00000494942	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2257-2288	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000494942.1:n.2257_2288delGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsTGTCCTGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCGGGACC	ENSG00000158062	ENST00000442942	Transcript	downstream_gene_variant	-	-	-	-	-	-	3591	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCAGGACA	ENSG00000158062	ENST00000442942	Transcript	downstream_gene_variant	-	-	-	-	-	-	3591	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCGGGACC	ENSG00000130695	ENST00000451429	Transcript	downstream_gene_variant	-	-	-	-	-	-	4634	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCAGGACA	ENSG00000130695	ENST00000451429	Transcript	downstream_gene_variant	-	-	-	-	-	-	4634	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCGGGACC	ENSG00000142669	ENST00000319041	Transcript	downstream_gene_variant	-	-	-	-	-	-	871	1	SH3BGRL3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCAGGACA	ENSG00000142669	ENST00000319041	Transcript	downstream_gene_variant	-	-	-	-	-	-	871	1	SH3BGRL3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCGGGACC	ENSG00000158062	ENST00000535108	Transcript	downstream_gene_variant	-	-	-	-	-	-	2642	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCAGGACA	ENSG00000158062	ENST00000535108	Transcript	downstream_gene_variant	-	-	-	-	-	-	2642	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCGGGACC	ENSG00000158062	ENST00000374221	Transcript	inframe_deletion	1724-1755	1510-1541	504-514	GPGPGPSPCPG/GPG	GGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGa/GGTCCCGGa	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374221.3:c.1510_1541delGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsGGTCCCGG	ENSP00000363338.3:p.Pro507_Gly514del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCAGGACA	ENSG00000158062	ENST00000374221	Transcript	inframe_deletion	1724-1755	1510-1541	504-514	GPGPGPSPCPG/CPG	GGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGa/TGTCCTGGa	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374221.3:c.1510_1541delGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsTGTCCTGG	ENSP00000363338.3:p.Gly504_Pro511del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCGGGACC	ENSG00000158062	ENST00000472155	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2575-2606	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000472155.1:n.2575_2606delGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsGGTCCCGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCAGGACA	ENSG00000158062	ENST00000472155	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2575-2606	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000472155.1:n.2575_2606delGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsTGTCCTGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCGGGACC	ENSG00000142669	ENST00000270792	Transcript	downstream_gene_variant	-	-	-	-	-	-	805	1	SH3BGRL3	HGNC	15568	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCAGGACA	ENSG00000142669	ENST00000270792	Transcript	downstream_gene_variant	-	-	-	-	-	-	805	1	SH3BGRL3	HGNC	15568	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCGGGACC	ENSG00000130695	ENST00000453146	Transcript	downstream_gene_variant	-	-	-	-	-	-	3514	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCAGGACA	ENSG00000130695	ENST00000453146	Transcript	downstream_gene_variant	-	-	-	-	-	-	3514	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCGGGACC	ENSG00000130695	ENST00000469609	Transcript	downstream_gene_variant	-	-	-	-	-	-	3514	1	CEP85	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCAGGACA	ENSG00000130695	ENST00000469609	Transcript	downstream_gene_variant	-	-	-	-	-	-	3514	1	CEP85	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCGGGACC	ENSG00000158062	ENST00000374223	Transcript	inframe_deletion	1242-1273	781-812	261-271	GPGPGPSPCPG/GPG	GGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGa/GGTCCCGGa	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374223.1:c.781_812delGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsGGTCCCGG	ENSP00000363340.1:p.Pro264_Gly271del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCAGGACA	ENSG00000158062	ENST00000374223	Transcript	inframe_deletion	1242-1273	781-812	261-271	GPGPGPSPCPG/CPG	GGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGa/TGTCCTGGa	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374223.1:c.781_812delGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGinsTGTCCTGG	ENSP00000363340.1:p.Gly261_Pro268del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCGGGACC	-	ENSR00000533083	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608811-26608843	CCAGGACA	-	ENSR00000533083	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608812-26608837	G	ENSG00000158062	ENST00000374215	Transcript	downstream_gene_variant	-	-	-	-	-	-	3114	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608812-26608837	G	ENSG00000158062	ENST00000496466	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2298-2322	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000496466.1:n.2298_2322delGGTCCCGGCCCCAGTCCCTGTCCTGinsC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608812-26608837	G	ENSG00000130695	ENST00000476272	Transcript	downstream_gene_variant	-	-	-	-	-	-	3516	1	CEP85	HGNC	25309	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608812-26608837	G	ENSG00000158062	ENST00000436301	Transcript	downstream_gene_variant	-	-	-	-	-	-	2791	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608812-26608837	G	ENSG00000130695	ENST00000252992	Transcript	downstream_gene_variant	-	-	-	-	-	-	3514	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608812-26608837	G	ENSG00000158062	ENST00000452980	Transcript	downstream_gene_variant	-	-	-	-	-	-	3530	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608812-26608837	G	ENSG00000158062	ENST00000374217	Transcript	feature_truncation	1784-1808	1417-1441	473-481	GPGPSPCPG/R	GGTCCCGGCCCCAGTCCCTGTCCTGga/Cga	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374217.2:c.1417_1441delGGTCCCGGCCCCAGTCCCTGTCCTGinsC	ENSP00000363334.2:p.Gly473_Gly481delinsArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608812-26608837	G	ENSG00000158062	ENST00000374222	Transcript	feature_truncation	1981-2005	1516-1540	506-514	GPGPSPCPG/R	GGTCCCGGCCCCAGTCCCTGTCCTGga/Cga	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374222.1:c.1516_1540delGGTCCCGGCCCCAGTCCCTGTCCTGinsC	ENSP00000363339.1:p.Gly506_Gly514delinsArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608812-26608837	G	ENSG00000158062	ENST00000357089	Transcript	feature_truncation	1493-1517	1417-1441	473-481	GPGPSPCPG/R	GGTCCCGGCCCCAGTCCCTGTCCTGga/Cga	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000357089.4:c.1417_1441delGGTCCCGGCCCCAGTCCCTGTCCTGinsC	ENSP00000349601.4:p.Gly473_Gly481delinsArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608812-26608837	G	ENSG00000158062	ENST00000314675	Transcript	feature_truncation	1236-1260	1156-1180	386-394	GPGPSPCPG/R	GGTCCCGGCCCCAGTCCCTGTCCTGga/Cga	-	-	-1	UBXN11	HGNC	30600	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000314675.7:c.1156_1180delGGTCCCGGCCCCAGTCCCTGTCCTGinsC	ENSP00000324721.7:p.Gly386_Gly394delinsArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608812-26608837	G	ENSG00000158062	ENST00000475591	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2478-2502	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000475591.1:n.2478_2502delGGTCCCGGCCCCAGTCCCTGTCCTGinsC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608812-26608837	G	ENSG00000158062	ENST00000494942	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2263-2287	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000494942.1:n.2263_2287delGGTCCCGGCCCCAGTCCCTGTCCTGinsC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608812-26608837	G	ENSG00000158062	ENST00000442942	Transcript	downstream_gene_variant	-	-	-	-	-	-	3597	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608812-26608837	G	ENSG00000130695	ENST00000451429	Transcript	downstream_gene_variant	-	-	-	-	-	-	4635	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608812-26608837	G	ENSG00000142669	ENST00000319041	Transcript	downstream_gene_variant	-	-	-	-	-	-	872	1	SH3BGRL3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608812-26608837	G	ENSG00000158062	ENST00000535108	Transcript	downstream_gene_variant	-	-	-	-	-	-	2648	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608812-26608837	G	ENSG00000158062	ENST00000374221	Transcript	feature_truncation	1730-1754	1516-1540	506-514	GPGPSPCPG/R	GGTCCCGGCCCCAGTCCCTGTCCTGga/Cga	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374221.3:c.1516_1540delGGTCCCGGCCCCAGTCCCTGTCCTGinsC	ENSP00000363338.3:p.Gly506_Gly514delinsArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608812-26608837	G	ENSG00000158062	ENST00000472155	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2581-2605	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000472155.1:n.2581_2605delGGTCCCGGCCCCAGTCCCTGTCCTGinsC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608812-26608837	G	ENSG00000142669	ENST00000270792	Transcript	downstream_gene_variant	-	-	-	-	-	-	806	1	SH3BGRL3	HGNC	15568	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608812-26608837	G	ENSG00000130695	ENST00000453146	Transcript	downstream_gene_variant	-	-	-	-	-	-	3515	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608812-26608837	G	ENSG00000130695	ENST00000469609	Transcript	downstream_gene_variant	-	-	-	-	-	-	3515	1	CEP85	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608812-26608837	G	ENSG00000158062	ENST00000374223	Transcript	feature_truncation	1248-1272	787-811	263-271	GPGPSPCPG/R	GGTCCCGGCCCCAGTCCCTGTCCTGga/Cga	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374223.1:c.787_811delGGTCCCGGCCCCAGTCCCTGTCCTGinsC	ENSP00000363340.1:p.Gly263_Gly271delinsArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608812-26608837	G	-	ENSR00000533083	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608819-26608843	-	ENSG00000158062	ENST00000374215	Transcript	downstream_gene_variant	-	-	-	-	-	TMP_ESP_1_26608820_26608843	3108	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-:0.759162	-:0.916784	-	-	-	-	-	-
.	1:26608819-26608843	-	ENSG00000158062	ENST00000496466	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2292-2315	-	-	-	-	TMP_ESP_1_26608820_26608843	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000496466.1:n.2292_2315delGGTCCCGGTCCCGGCCCCAGTCCC	-	-	-	-	-	-	-:0.759162	-:0.916784	-	-	-	-	-	-
.	1:26608819-26608843	-	ENSG00000130695	ENST00000476272	Transcript	downstream_gene_variant	-	-	-	-	-	TMP_ESP_1_26608820_26608843	3523	1	CEP85	HGNC	25309	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-:0.759162	-:0.916784	-	-	-	-	-	-
.	1:26608819-26608843	-	ENSG00000158062	ENST00000436301	Transcript	downstream_gene_variant	-	-	-	-	-	TMP_ESP_1_26608820_26608843	2785	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-:0.759162	-:0.916784	-	-	-	-	-	-
.	1:26608819-26608843	-	ENSG00000130695	ENST00000252992	Transcript	downstream_gene_variant	-	-	-	-	-	TMP_ESP_1_26608820_26608843	3521	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-:0.759162	-:0.916784	-	-	-	-	-	-
.	1:26608819-26608843	-	ENSG00000158062	ENST00000452980	Transcript	downstream_gene_variant	-	-	-	-	-	TMP_ESP_1_26608820_26608843	3524	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-:0.759162	-:0.916784	-	-	-	-	-	-
.	1:26608819-26608843	-	ENSG00000158062	ENST00000374217	Transcript	inframe_deletion	1778-1801	1411-1434	471-478	GPGPGPSP/-	GGTCCCGGTCCCGGCCCCAGTCCC/-	TMP_ESP_1_26608820_26608843	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374217.2:c.1411_1434delGGTCCCGGTCCCGGCCCCAGTCCC	ENSP00000363334.2:p.Gly471_Pro478del	-	-	-	-	-	-:0.759162	-:0.916784	-	-	-	-	-	-
.	1:26608819-26608843	-	ENSG00000158062	ENST00000374222	Transcript	inframe_deletion	1975-1998	1510-1533	504-511	GPGPGPSP/-	GGTCCCGGTCCCGGCCCCAGTCCC/-	TMP_ESP_1_26608820_26608843	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374222.1:c.1510_1533delGGTCCCGGTCCCGGCCCCAGTCCC	ENSP00000363339.1:p.Gly504_Pro511del	-	-	-	-	-	-:0.759162	-:0.916784	-	-	-	-	-	-
.	1:26608819-26608843	-	ENSG00000158062	ENST00000357089	Transcript	inframe_deletion	1487-1510	1411-1434	471-478	GPGPGPSP/-	GGTCCCGGTCCCGGCCCCAGTCCC/-	TMP_ESP_1_26608820_26608843	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000357089.4:c.1411_1434delGGTCCCGGTCCCGGCCCCAGTCCC	ENSP00000349601.4:p.Gly471_Pro478del	-	-	-	-	-	-:0.759162	-:0.916784	-	-	-	-	-	-
.	1:26608819-26608843	-	ENSG00000158062	ENST00000314675	Transcript	inframe_deletion	1230-1253	1150-1173	384-391	GPGPGPSP/-	GGTCCCGGTCCCGGCCCCAGTCCC/-	TMP_ESP_1_26608820_26608843	-	-1	UBXN11	HGNC	30600	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000314675.7:c.1150_1173delGGTCCCGGTCCCGGCCCCAGTCCC	ENSP00000324721.7:p.Gly384_Pro391del	-	-	-	-	-	-:0.759162	-:0.916784	-	-	-	-	-	-
.	1:26608819-26608843	-	ENSG00000158062	ENST00000475591	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2472-2495	-	-	-	-	TMP_ESP_1_26608820_26608843	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000475591.1:n.2472_2495delGGTCCCGGTCCCGGCCCCAGTCCC	-	-	-	-	-	-	-:0.759162	-:0.916784	-	-	-	-	-	-
.	1:26608819-26608843	-	ENSG00000158062	ENST00000494942	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2257-2280	-	-	-	-	TMP_ESP_1_26608820_26608843	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000494942.1:n.2257_2280delGGTCCCGGTCCCGGCCCCAGTCCC	-	-	-	-	-	-	-:0.759162	-:0.916784	-	-	-	-	-	-
.	1:26608819-26608843	-	ENSG00000158062	ENST00000442942	Transcript	downstream_gene_variant	-	-	-	-	-	TMP_ESP_1_26608820_26608843	3591	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-:0.759162	-:0.916784	-	-	-	-	-	-
.	1:26608819-26608843	-	ENSG00000130695	ENST00000451429	Transcript	downstream_gene_variant	-	-	-	-	-	TMP_ESP_1_26608820_26608843	4642	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-:0.759162	-:0.916784	-	-	-	-	-	-
.	1:26608819-26608843	-	ENSG00000142669	ENST00000319041	Transcript	downstream_gene_variant	-	-	-	-	-	TMP_ESP_1_26608820_26608843	879	1	SH3BGRL3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-:0.759162	-:0.916784	-	-	-	-	-	-
.	1:26608819-26608843	-	ENSG00000158062	ENST00000535108	Transcript	downstream_gene_variant	-	-	-	-	-	TMP_ESP_1_26608820_26608843	2642	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-:0.759162	-:0.916784	-	-	-	-	-	-
.	1:26608819-26608843	-	ENSG00000158062	ENST00000374221	Transcript	inframe_deletion	1724-1747	1510-1533	504-511	GPGPGPSP/-	GGTCCCGGTCCCGGCCCCAGTCCC/-	TMP_ESP_1_26608820_26608843	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374221.3:c.1510_1533delGGTCCCGGTCCCGGCCCCAGTCCC	ENSP00000363338.3:p.Gly504_Pro511del	-	-	-	-	-	-:0.759162	-:0.916784	-	-	-	-	-	-
.	1:26608819-26608843	-	ENSG00000158062	ENST00000472155	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2575-2598	-	-	-	-	TMP_ESP_1_26608820_26608843	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000472155.1:n.2575_2598delGGTCCCGGTCCCGGCCCCAGTCCC	-	-	-	-	-	-	-:0.759162	-:0.916784	-	-	-	-	-	-
.	1:26608819-26608843	-	ENSG00000142669	ENST00000270792	Transcript	downstream_gene_variant	-	-	-	-	-	TMP_ESP_1_26608820_26608843	813	1	SH3BGRL3	HGNC	15568	protein_coding	-	-	-	-	-	-	-	-	-	-	-:0.759162	-:0.916784	-	-	-	-	-	-
.	1:26608819-26608843	-	ENSG00000130695	ENST00000453146	Transcript	downstream_gene_variant	-	-	-	-	-	TMP_ESP_1_26608820_26608843	3522	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-:0.759162	-:0.916784	-	-	-	-	-	-
.	1:26608819-26608843	-	ENSG00000130695	ENST00000469609	Transcript	downstream_gene_variant	-	-	-	-	-	TMP_ESP_1_26608820_26608843	3522	1	CEP85	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-:0.759162	-:0.916784	-	-	-	-	-	-
.	1:26608819-26608843	-	ENSG00000158062	ENST00000374223	Transcript	inframe_deletion	1242-1265	781-804	261-268	GPGPGPSP/-	GGTCCCGGTCCCGGCCCCAGTCCC/-	TMP_ESP_1_26608820_26608843	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374223.1:c.781_804delGGTCCCGGTCCCGGCCCCAGTCCC	ENSP00000363340.1:p.Gly261_Pro268del	-	-	-	-	-	-:0.759162	-:0.916784	-	-	-	-	-	-
.	1:26608819-26608843	-	-	ENSR00000533083	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	TMP_ESP_1_26608820_26608843	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-:0.759162	-:0.916784	-	-	-	-	-	-
.	1:26608819-26608867	-	ENSG00000158062	ENST00000374215	Transcript	downstream_gene_variant	-	-	-	-	-	-	3084	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608819-26608867	-	ENSG00000158062	ENST00000496466	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2268-2315	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000496466.1:n.2268_2315delGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608819-26608867	-	ENSG00000130695	ENST00000476272	Transcript	downstream_gene_variant	-	-	-	-	-	-	3523	1	CEP85	HGNC	25309	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608819-26608867	-	ENSG00000158062	ENST00000436301	Transcript	downstream_gene_variant	-	-	-	-	-	-	2761	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608819-26608867	-	ENSG00000130695	ENST00000252992	Transcript	downstream_gene_variant	-	-	-	-	-	-	3521	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608819-26608867	-	ENSG00000158062	ENST00000452980	Transcript	downstream_gene_variant	-	-	-	-	-	-	3500	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608819-26608867	-	ENSG00000158062	ENST00000374217	Transcript	inframe_deletion	1754-1801	1387-1434	463-478	GPGPGPSPGPGPGPSP/-	GGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCC/-	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374217.2:c.1387_1434delGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCC	ENSP00000363334.2:p.Gly463_Pro478del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608819-26608867	-	ENSG00000158062	ENST00000374222	Transcript	inframe_deletion	1951-1998	1486-1533	496-511	GPGPGPSPGPGPGPSP/-	GGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCC/-	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374222.1:c.1486_1533delGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCC	ENSP00000363339.1:p.Gly496_Pro511del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608819-26608867	-	ENSG00000158062	ENST00000357089	Transcript	inframe_deletion	1463-1510	1387-1434	463-478	GPGPGPSPGPGPGPSP/-	GGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCC/-	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000357089.4:c.1387_1434delGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCC	ENSP00000349601.4:p.Gly463_Pro478del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608819-26608867	-	ENSG00000158062	ENST00000314675	Transcript	inframe_deletion	1206-1253	1126-1173	376-391	GPGPGPSPGPGPGPSP/-	GGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCC/-	-	-	-1	UBXN11	HGNC	30600	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000314675.7:c.1126_1173delGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCC	ENSP00000324721.7:p.Gly376_Pro391del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608819-26608867	-	ENSG00000158062	ENST00000475591	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2448-2495	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000475591.1:n.2448_2495delGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608819-26608867	-	ENSG00000158062	ENST00000494942	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2233-2280	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000494942.1:n.2233_2280delGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608819-26608867	-	ENSG00000158062	ENST00000442942	Transcript	downstream_gene_variant	-	-	-	-	-	-	3567	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608819-26608867	-	ENSG00000130695	ENST00000451429	Transcript	downstream_gene_variant	-	-	-	-	-	-	4642	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608819-26608867	-	ENSG00000142669	ENST00000319041	Transcript	downstream_gene_variant	-	-	-	-	-	-	879	1	SH3BGRL3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608819-26608867	-	ENSG00000158062	ENST00000535108	Transcript	downstream_gene_variant	-	-	-	-	-	-	2618	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608819-26608867	-	ENSG00000158062	ENST00000374221	Transcript	inframe_deletion	1700-1747	1486-1533	496-511	GPGPGPSPGPGPGPSP/-	GGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCC/-	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374221.3:c.1486_1533delGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCC	ENSP00000363338.3:p.Gly496_Pro511del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608819-26608867	-	ENSG00000158062	ENST00000472155	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2551-2598	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000472155.1:n.2551_2598delGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608819-26608867	-	ENSG00000142669	ENST00000270792	Transcript	downstream_gene_variant	-	-	-	-	-	-	813	1	SH3BGRL3	HGNC	15568	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608819-26608867	-	ENSG00000130695	ENST00000453146	Transcript	downstream_gene_variant	-	-	-	-	-	-	3522	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608819-26608867	-	ENSG00000130695	ENST00000469609	Transcript	downstream_gene_variant	-	-	-	-	-	-	3522	1	CEP85	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608819-26608867	-	ENSG00000158062	ENST00000374223	Transcript	inframe_deletion	1218-1265	757-804	253-268	GPGPGPSPGPGPGPSP/-	GGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCC/-	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374223.1:c.757_804delGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCC	ENSP00000363340.1:p.Gly253_Pro268del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608819-26608867	-	-	ENSR00000533083	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827-26608852	A	ENSG00000158062	ENST00000374215	Transcript	downstream_gene_variant	-	-	-	-	-	-	3099	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827-26608852	A	ENSG00000158062	ENST00000496466	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2283-2307	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000496466.1:n.2283_2307delCCCAGTCCCGGTCCCGGTCCCGGCCinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827-26608852	A	ENSG00000130695	ENST00000476272	Transcript	downstream_gene_variant	-	-	-	-	-	-	3531	1	CEP85	HGNC	25309	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827-26608852	A	ENSG00000158062	ENST00000436301	Transcript	downstream_gene_variant	-	-	-	-	-	-	2776	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827-26608852	A	ENSG00000130695	ENST00000252992	Transcript	downstream_gene_variant	-	-	-	-	-	-	3529	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827-26608852	A	ENSG00000158062	ENST00000452980	Transcript	downstream_gene_variant	-	-	-	-	-	-	3515	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827-26608852	A	ENSG00000158062	ENST00000374217	Transcript	feature_truncation	1769-1793	1402-1426	468-476	PSPGPGPGP/S	CCCAGTCCCGGTCCCGGTCCCGGCCcc/Tcc	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374217.2:c.1402_1426delCCCAGTCCCGGTCCCGGTCCCGGCCinsT	ENSP00000363334.2:p.Pro468_Pro476delinsSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827-26608852	A	ENSG00000158062	ENST00000374222	Transcript	feature_truncation	1966-1990	1501-1525	501-509	PSPGPGPGP/S	CCCAGTCCCGGTCCCGGTCCCGGCCcc/Tcc	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374222.1:c.1501_1525delCCCAGTCCCGGTCCCGGTCCCGGCCinsT	ENSP00000363339.1:p.Pro501_Pro509delinsSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827-26608852	A	ENSG00000158062	ENST00000357089	Transcript	feature_truncation	1478-1502	1402-1426	468-476	PSPGPGPGP/S	CCCAGTCCCGGTCCCGGTCCCGGCCcc/Tcc	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000357089.4:c.1402_1426delCCCAGTCCCGGTCCCGGTCCCGGCCinsT	ENSP00000349601.4:p.Pro468_Pro476delinsSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827-26608852	A	ENSG00000158062	ENST00000314675	Transcript	feature_truncation	1221-1245	1141-1165	381-389	PSPGPGPGP/S	CCCAGTCCCGGTCCCGGTCCCGGCCcc/Tcc	-	-	-1	UBXN11	HGNC	30600	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000314675.7:c.1141_1165delCCCAGTCCCGGTCCCGGTCCCGGCCinsT	ENSP00000324721.7:p.Pro381_Pro389delinsSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827-26608852	A	ENSG00000158062	ENST00000475591	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2463-2487	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000475591.1:n.2463_2487delCCCAGTCCCGGTCCCGGTCCCGGCCinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827-26608852	A	ENSG00000158062	ENST00000494942	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2248-2272	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000494942.1:n.2248_2272delCCCAGTCCCGGTCCCGGTCCCGGCCinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827-26608852	A	ENSG00000158062	ENST00000442942	Transcript	downstream_gene_variant	-	-	-	-	-	-	3582	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827-26608852	A	ENSG00000130695	ENST00000451429	Transcript	downstream_gene_variant	-	-	-	-	-	-	4650	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827-26608852	A	ENSG00000142669	ENST00000319041	Transcript	downstream_gene_variant	-	-	-	-	-	-	887	1	SH3BGRL3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827-26608852	A	ENSG00000158062	ENST00000535108	Transcript	downstream_gene_variant	-	-	-	-	-	-	2633	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827-26608852	A	ENSG00000158062	ENST00000374221	Transcript	feature_truncation	1715-1739	1501-1525	501-509	PSPGPGPGP/S	CCCAGTCCCGGTCCCGGTCCCGGCCcc/Tcc	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374221.3:c.1501_1525delCCCAGTCCCGGTCCCGGTCCCGGCCinsT	ENSP00000363338.3:p.Pro501_Pro509delinsSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827-26608852	A	ENSG00000158062	ENST00000472155	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2566-2590	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000472155.1:n.2566_2590delCCCAGTCCCGGTCCCGGTCCCGGCCinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827-26608852	A	ENSG00000142669	ENST00000270792	Transcript	downstream_gene_variant	-	-	-	-	-	-	821	1	SH3BGRL3	HGNC	15568	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827-26608852	A	ENSG00000130695	ENST00000453146	Transcript	downstream_gene_variant	-	-	-	-	-	-	3530	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827-26608852	A	ENSG00000130695	ENST00000469609	Transcript	downstream_gene_variant	-	-	-	-	-	-	3530	1	CEP85	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827-26608852	A	ENSG00000158062	ENST00000374223	Transcript	feature_truncation	1233-1257	772-796	258-266	PSPGPGPGP/S	CCCAGTCCCGGTCCCGGTCCCGGCCcc/Tcc	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374223.1:c.772_796delCCCAGTCCCGGTCCCGGTCCCGGCCinsT	ENSP00000363340.1:p.Pro258_Pro266delinsSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827-26608852	A	-	ENSR00000533083	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827	GGCCGGGACCGGGACCGGGACTGG	ENSG00000158062	ENST00000374215	Transcript	downstream_gene_variant	-	-	-	-	-	-	3123	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827	GGCCGGGACCGGGACCGGGACTGG	ENSG00000158062	ENST00000496466	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	2307-2308	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000496466.1:n.2284_2307dupCCAGTCCCGGTCCCGGTCCCGGCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827	GGCCGGGACCGGGACCGGGACTGG	ENSG00000130695	ENST00000476272	Transcript	downstream_gene_variant	-	-	-	-	-	-	3530	1	CEP85	HGNC	25309	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827	GGCCGGGACCGGGACCGGGACTGG	ENSG00000158062	ENST00000436301	Transcript	downstream_gene_variant	-	-	-	-	-	-	2800	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827	GGCCGGGACCGGGACCGGGACTGG	ENSG00000130695	ENST00000252992	Transcript	downstream_gene_variant	-	-	-	-	-	-	3528	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827	GGCCGGGACCGGGACCGGGACTGG	ENSG00000158062	ENST00000452980	Transcript	downstream_gene_variant	-	-	-	-	-	-	3539	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827	GGCCGGGACCGGGACCGGGACTGG	ENSG00000158062	ENST00000374217	Transcript	inframe_insertion	1793-1794	1426-1427	476	P/PSPGPGPGP	ccc/cCCAGTCCCGGTCCCGGTCCCGGCCcc	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374217.2:c.1403_1426dupCCAGTCCCGGTCCCGGTCCCGGCC	ENSP00000363334.2:p.Ser469_Pro476dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827	GGCCGGGACCGGGACCGGGACTGG	ENSG00000158062	ENST00000374222	Transcript	inframe_insertion	1990-1991	1525-1526	509	P/PSPGPGPGP	ccc/cCCAGTCCCGGTCCCGGTCCCGGCCcc	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374222.1:c.1502_1525dupCCAGTCCCGGTCCCGGTCCCGGCC	ENSP00000363339.1:p.Ser502_Pro509dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827	GGCCGGGACCGGGACCGGGACTGG	ENSG00000158062	ENST00000357089	Transcript	inframe_insertion	1502-1503	1426-1427	476	P/PSPGPGPGP	ccc/cCCAGTCCCGGTCCCGGTCCCGGCCcc	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000357089.4:c.1403_1426dupCCAGTCCCGGTCCCGGTCCCGGCC	ENSP00000349601.4:p.Ser469_Pro476dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827	GGCCGGGACCGGGACCGGGACTGG	ENSG00000158062	ENST00000314675	Transcript	inframe_insertion	1245-1246	1165-1166	389	P/PSPGPGPGP	ccc/cCCAGTCCCGGTCCCGGTCCCGGCCcc	-	-	-1	UBXN11	HGNC	30600	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000314675.7:c.1142_1165dupCCAGTCCCGGTCCCGGTCCCGGCC	ENSP00000324721.7:p.Ser382_Pro389dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827	GGCCGGGACCGGGACCGGGACTGG	ENSG00000158062	ENST00000475591	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	2487-2488	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000475591.1:n.2464_2487dupCCAGTCCCGGTCCCGGTCCCGGCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827	GGCCGGGACCGGGACCGGGACTGG	ENSG00000158062	ENST00000494942	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	2272-2273	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000494942.1:n.2249_2272dupCCAGTCCCGGTCCCGGTCCCGGCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827	GGCCGGGACCGGGACCGGGACTGG	ENSG00000158062	ENST00000442942	Transcript	downstream_gene_variant	-	-	-	-	-	-	3606	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827	GGCCGGGACCGGGACCGGGACTGG	ENSG00000130695	ENST00000451429	Transcript	downstream_gene_variant	-	-	-	-	-	-	4649	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827	GGCCGGGACCGGGACCGGGACTGG	ENSG00000142669	ENST00000319041	Transcript	downstream_gene_variant	-	-	-	-	-	-	886	1	SH3BGRL3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827	GGCCGGGACCGGGACCGGGACTGG	ENSG00000158062	ENST00000535108	Transcript	downstream_gene_variant	-	-	-	-	-	-	2657	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827	GGCCGGGACCGGGACCGGGACTGG	ENSG00000158062	ENST00000374221	Transcript	inframe_insertion	1739-1740	1525-1526	509	P/PSPGPGPGP	ccc/cCCAGTCCCGGTCCCGGTCCCGGCCcc	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374221.3:c.1502_1525dupCCAGTCCCGGTCCCGGTCCCGGCC	ENSP00000363338.3:p.Ser502_Pro509dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827	GGCCGGGACCGGGACCGGGACTGG	ENSG00000158062	ENST00000472155	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	2590-2591	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000472155.1:n.2567_2590dupCCAGTCCCGGTCCCGGTCCCGGCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827	GGCCGGGACCGGGACCGGGACTGG	ENSG00000142669	ENST00000270792	Transcript	downstream_gene_variant	-	-	-	-	-	-	820	1	SH3BGRL3	HGNC	15568	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827	GGCCGGGACCGGGACCGGGACTGG	ENSG00000130695	ENST00000453146	Transcript	downstream_gene_variant	-	-	-	-	-	-	3529	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827	GGCCGGGACCGGGACCGGGACTGG	ENSG00000130695	ENST00000469609	Transcript	downstream_gene_variant	-	-	-	-	-	-	3529	1	CEP85	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827	GGCCGGGACCGGGACCGGGACTGG	ENSG00000158062	ENST00000374223	Transcript	inframe_insertion	1257-1258	796-797	266	P/PSPGPGPGP	ccc/cCCAGTCCCGGTCCCGGTCCCGGCCcc	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374223.1:c.773_796dupCCAGTCCCGGTCCCGGTCCCGGCC	ENSP00000363340.1:p.Ser259_Pro266dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608827	GGCCGGGACCGGGACCGGGACTGG	-	ENSR00000533083	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608867	A	ENSG00000158062	ENST00000374215	Transcript	downstream_gene_variant	-	-	-	-	-	-	3084	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608867	A	ENSG00000158062	ENST00000496466	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2268-2286	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000496466.1:n.2268_2286delGGTCCCGGTCCCGGCCCCAinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608867	A	ENSG00000130695	ENST00000476272	Transcript	downstream_gene_variant	-	-	-	-	-	-	3552	1	CEP85	HGNC	25309	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608867	A	ENSG00000158062	ENST00000436301	Transcript	downstream_gene_variant	-	-	-	-	-	-	2761	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608867	A	ENSG00000130695	ENST00000252992	Transcript	downstream_gene_variant	-	-	-	-	-	-	3550	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608867	A	ENSG00000158062	ENST00000452980	Transcript	downstream_gene_variant	-	-	-	-	-	-	3500	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608867	A	ENSG00000158062	ENST00000374217	Transcript	feature_truncation	1754-1772	1387-1405	463-469	GPGPGPS/C	GGTCCCGGTCCCGGCCCCAgt/Tgt	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374217.2:c.1387_1405delGGTCCCGGTCCCGGCCCCAinsT	ENSP00000363334.2:p.Gly463_Ser469delinsCys	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608867	A	ENSG00000158062	ENST00000374222	Transcript	feature_truncation	1951-1969	1486-1504	496-502	GPGPGPS/C	GGTCCCGGTCCCGGCCCCAgt/Tgt	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374222.1:c.1486_1504delGGTCCCGGTCCCGGCCCCAinsT	ENSP00000363339.1:p.Gly496_Ser502delinsCys	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608867	A	ENSG00000158062	ENST00000357089	Transcript	feature_truncation	1463-1481	1387-1405	463-469	GPGPGPS/C	GGTCCCGGTCCCGGCCCCAgt/Tgt	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000357089.4:c.1387_1405delGGTCCCGGTCCCGGCCCCAinsT	ENSP00000349601.4:p.Gly463_Ser469delinsCys	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608867	A	ENSG00000158062	ENST00000314675	Transcript	feature_truncation	1206-1224	1126-1144	376-382	GPGPGPS/C	GGTCCCGGTCCCGGCCCCAgt/Tgt	-	-	-1	UBXN11	HGNC	30600	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000314675.7:c.1126_1144delGGTCCCGGTCCCGGCCCCAinsT	ENSP00000324721.7:p.Gly376_Ser382delinsCys	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608867	A	ENSG00000158062	ENST00000475591	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2448-2466	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000475591.1:n.2448_2466delGGTCCCGGTCCCGGCCCCAinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608867	A	ENSG00000158062	ENST00000494942	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2233-2251	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000494942.1:n.2233_2251delGGTCCCGGTCCCGGCCCCAinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608867	A	ENSG00000158062	ENST00000442942	Transcript	downstream_gene_variant	-	-	-	-	-	-	3567	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608867	A	ENSG00000130695	ENST00000451429	Transcript	downstream_gene_variant	-	-	-	-	-	-	4671	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608867	A	ENSG00000142669	ENST00000319041	Transcript	downstream_gene_variant	-	-	-	-	-	-	908	1	SH3BGRL3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608867	A	ENSG00000158062	ENST00000535108	Transcript	downstream_gene_variant	-	-	-	-	-	-	2618	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608867	A	ENSG00000158062	ENST00000374221	Transcript	feature_truncation	1700-1718	1486-1504	496-502	GPGPGPS/C	GGTCCCGGTCCCGGCCCCAgt/Tgt	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374221.3:c.1486_1504delGGTCCCGGTCCCGGCCCCAinsT	ENSP00000363338.3:p.Gly496_Ser502delinsCys	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608867	A	ENSG00000158062	ENST00000472155	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2551-2569	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000472155.1:n.2551_2569delGGTCCCGGTCCCGGCCCCAinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608867	A	ENSG00000142669	ENST00000270792	Transcript	downstream_gene_variant	-	-	-	-	-	-	842	1	SH3BGRL3	HGNC	15568	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608867	A	ENSG00000130695	ENST00000453146	Transcript	downstream_gene_variant	-	-	-	-	-	-	3551	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608867	A	ENSG00000130695	ENST00000469609	Transcript	downstream_gene_variant	-	-	-	-	-	-	3551	1	CEP85	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608867	A	ENSG00000158062	ENST00000374223	Transcript	feature_truncation	1218-1236	757-775	253-259	GPGPGPS/C	GGTCCCGGTCCCGGCCCCAgt/Tgt	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374223.1:c.757_775delGGTCCCGGTCCCGGCCCCAinsT	ENSP00000363340.1:p.Gly253_Ser259delinsCys	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608867	A	-	ENSR00000533083	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	TGGGG	ENSG00000158062	ENST00000374215	Transcript	downstream_gene_variant	-	-	-	-	-	-	3068	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	AGGGACTGGGGCCGGGA	ENSG00000158062	ENST00000374215	Transcript	downstream_gene_variant	-	-	-	-	-	-	3068	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	TGGGG	ENSG00000158062	ENST00000496466	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2252-2286	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000496466.1:n.2252_2286delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAinsCCCCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	AGGGACTGGGGCCGGGA	ENSG00000158062	ENST00000496466	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2252-2286	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000496466.1:n.2252_2286delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAinsTCCCGGCCCCAGTCCCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	TGGGG	ENSG00000130695	ENST00000476272	Transcript	downstream_gene_variant	-	-	-	-	-	-	3552	1	CEP85	HGNC	25309	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	AGGGACTGGGGCCGGGA	ENSG00000130695	ENST00000476272	Transcript	downstream_gene_variant	-	-	-	-	-	-	3552	1	CEP85	HGNC	25309	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	TGGGG	ENSG00000158062	ENST00000436301	Transcript	downstream_gene_variant	-	-	-	-	-	-	2745	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	AGGGACTGGGGCCGGGA	ENSG00000158062	ENST00000436301	Transcript	downstream_gene_variant	-	-	-	-	-	-	2745	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	TGGGG	ENSG00000130695	ENST00000252992	Transcript	downstream_gene_variant	-	-	-	-	-	-	3550	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	AGGGACTGGGGCCGGGA	ENSG00000130695	ENST00000252992	Transcript	downstream_gene_variant	-	-	-	-	-	-	3550	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	TGGGG	ENSG00000158062	ENST00000452980	Transcript	downstream_gene_variant	-	-	-	-	-	-	3484	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	AGGGACTGGGGCCGGGA	ENSG00000158062	ENST00000452980	Transcript	downstream_gene_variant	-	-	-	-	-	-	3484	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	TGGGG	ENSG00000158062	ENST00000374217	Transcript	inframe_deletion	1738-1772	1371-1405	457-469	GPGPSPGPGPGPS/GPS	ggTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAgt/ggCCCCAgt	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374217.2:c.1371_1405delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAinsCCCCA	ENSP00000363334.2:p.Gly459_Pro468del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	AGGGACTGGGGCCGGGA	ENSG00000158062	ENST00000374217	Transcript	feature_truncation	1738-1772	1371-1405	457-469	GPGPSPGPGPGPS/GPGPSPC	ggTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAgt/ggTCCCGGCCCCAGTCCCTgt	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374217.2:c.1371_1405delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAinsTCCCGGCCCCAGTCCCT	ENSP00000363334.2:p.Gly463_Ser469delinsCys	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	TGGGG	ENSG00000158062	ENST00000374222	Transcript	inframe_deletion	1935-1969	1470-1504	490-502	GPGPSPGPGPGPS/GPS	ggTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAgt/ggCCCCAgt	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374222.1:c.1470_1504delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAinsCCCCA	ENSP00000363339.1:p.Gly492_Pro501del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	AGGGACTGGGGCCGGGA	ENSG00000158062	ENST00000374222	Transcript	feature_truncation	1935-1969	1470-1504	490-502	GPGPSPGPGPGPS/GPGPSPC	ggTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAgt/ggTCCCGGCCCCAGTCCCTgt	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374222.1:c.1470_1504delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAinsTCCCGGCCCCAGTCCCT	ENSP00000363339.1:p.Gly496_Ser502delinsCys	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	TGGGG	ENSG00000158062	ENST00000357089	Transcript	inframe_deletion	1447-1481	1371-1405	457-469	GPGPSPGPGPGPS/GPS	ggTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAgt/ggCCCCAgt	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000357089.4:c.1371_1405delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAinsCCCCA	ENSP00000349601.4:p.Gly459_Pro468del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	AGGGACTGGGGCCGGGA	ENSG00000158062	ENST00000357089	Transcript	feature_truncation	1447-1481	1371-1405	457-469	GPGPSPGPGPGPS/GPGPSPC	ggTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAgt/ggTCCCGGCCCCAGTCCCTgt	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000357089.4:c.1371_1405delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAinsTCCCGGCCCCAGTCCCT	ENSP00000349601.4:p.Gly463_Ser469delinsCys	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	TGGGG	ENSG00000158062	ENST00000314675	Transcript	inframe_deletion	1190-1224	1110-1144	370-382	GPGPSPGPGPGPS/GPS	ggTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAgt/ggCCCCAgt	-	-	-1	UBXN11	HGNC	30600	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000314675.7:c.1110_1144delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAinsCCCCA	ENSP00000324721.7:p.Gly372_Pro381del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	AGGGACTGGGGCCGGGA	ENSG00000158062	ENST00000314675	Transcript	feature_truncation	1190-1224	1110-1144	370-382	GPGPSPGPGPGPS/GPGPSPC	ggTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAgt/ggTCCCGGCCCCAGTCCCTgt	-	-	-1	UBXN11	HGNC	30600	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000314675.7:c.1110_1144delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAinsTCCCGGCCCCAGTCCCT	ENSP00000324721.7:p.Gly376_Ser382delinsCys	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	TGGGG	ENSG00000158062	ENST00000475591	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2432-2466	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000475591.1:n.2432_2466delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAinsCCCCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	AGGGACTGGGGCCGGGA	ENSG00000158062	ENST00000475591	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2432-2466	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000475591.1:n.2432_2466delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAinsTCCCGGCCCCAGTCCCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	TGGGG	ENSG00000158062	ENST00000494942	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2217-2251	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000494942.1:n.2217_2251delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAinsCCCCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	AGGGACTGGGGCCGGGA	ENSG00000158062	ENST00000494942	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2217-2251	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000494942.1:n.2217_2251delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAinsTCCCGGCCCCAGTCCCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	TGGGG	ENSG00000158062	ENST00000442942	Transcript	downstream_gene_variant	-	-	-	-	-	-	3551	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	AGGGACTGGGGCCGGGA	ENSG00000158062	ENST00000442942	Transcript	downstream_gene_variant	-	-	-	-	-	-	3551	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	TGGGG	ENSG00000130695	ENST00000451429	Transcript	downstream_gene_variant	-	-	-	-	-	-	4671	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	AGGGACTGGGGCCGGGA	ENSG00000130695	ENST00000451429	Transcript	downstream_gene_variant	-	-	-	-	-	-	4671	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	TGGGG	ENSG00000142669	ENST00000319041	Transcript	downstream_gene_variant	-	-	-	-	-	-	908	1	SH3BGRL3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	AGGGACTGGGGCCGGGA	ENSG00000142669	ENST00000319041	Transcript	downstream_gene_variant	-	-	-	-	-	-	908	1	SH3BGRL3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	TGGGG	ENSG00000158062	ENST00000535108	Transcript	downstream_gene_variant	-	-	-	-	-	-	2602	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	AGGGACTGGGGCCGGGA	ENSG00000158062	ENST00000535108	Transcript	downstream_gene_variant	-	-	-	-	-	-	2602	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	TGGGG	ENSG00000158062	ENST00000374221	Transcript	inframe_deletion	1684-1718	1470-1504	490-502	GPGPSPGPGPGPS/GPS	ggTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAgt/ggCCCCAgt	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374221.3:c.1470_1504delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAinsCCCCA	ENSP00000363338.3:p.Gly492_Pro501del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	AGGGACTGGGGCCGGGA	ENSG00000158062	ENST00000374221	Transcript	feature_truncation	1684-1718	1470-1504	490-502	GPGPSPGPGPGPS/GPGPSPC	ggTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAgt/ggTCCCGGCCCCAGTCCCTgt	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374221.3:c.1470_1504delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAinsTCCCGGCCCCAGTCCCT	ENSP00000363338.3:p.Gly496_Ser502delinsCys	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	TGGGG	ENSG00000158062	ENST00000472155	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2535-2569	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000472155.1:n.2535_2569delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAinsCCCCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	AGGGACTGGGGCCGGGA	ENSG00000158062	ENST00000472155	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2535-2569	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000472155.1:n.2535_2569delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAinsTCCCGGCCCCAGTCCCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	TGGGG	ENSG00000142669	ENST00000270792	Transcript	downstream_gene_variant	-	-	-	-	-	-	842	1	SH3BGRL3	HGNC	15568	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	AGGGACTGGGGCCGGGA	ENSG00000142669	ENST00000270792	Transcript	downstream_gene_variant	-	-	-	-	-	-	842	1	SH3BGRL3	HGNC	15568	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	TGGGG	ENSG00000130695	ENST00000453146	Transcript	downstream_gene_variant	-	-	-	-	-	-	3551	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	AGGGACTGGGGCCGGGA	ENSG00000130695	ENST00000453146	Transcript	downstream_gene_variant	-	-	-	-	-	-	3551	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	TGGGG	ENSG00000130695	ENST00000469609	Transcript	downstream_gene_variant	-	-	-	-	-	-	3551	1	CEP85	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	AGGGACTGGGGCCGGGA	ENSG00000130695	ENST00000469609	Transcript	downstream_gene_variant	-	-	-	-	-	-	3551	1	CEP85	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	TGGGG	ENSG00000158062	ENST00000374223	Transcript	inframe_deletion	1202-1236	741-775	247-259	GPGPSPGPGPGPS/GPS	ggTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAgt/ggCCCCAgt	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374223.1:c.741_775delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAinsCCCCA	ENSP00000363340.1:p.Gly249_Pro258del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	AGGGACTGGGGCCGGGA	ENSG00000158062	ENST00000374223	Transcript	feature_truncation	1202-1236	741-775	247-259	GPGPSPGPGPGPS/GPGPSPC	ggTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAgt/ggTCCCGGCCCCAGTCCCTgt	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374223.1:c.741_775delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAinsTCCCGGCCCCAGTCCCT	ENSP00000363340.1:p.Gly253_Ser259delinsCys	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	TGGGG	-	ENSR00000533083	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608848-26608883	AGGGACTGGGGCCGGGA	-	ENSR00000533083	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAG	ENSG00000158062	ENST00000374215	Transcript	downstream_gene_variant	-	-	-	-	-	-	3055	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAC	ENSG00000158062	ENST00000374215	Transcript	downstream_gene_variant	-	-	-	-	-	-	3055	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAG	ENSG00000158062	ENST00000496466	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2239-2281	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000496466.1:n.2239_2281delGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGinsCTCCCGGTCCCGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAC	ENSG00000158062	ENST00000496466	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2239-2281	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000496466.1:n.2239_2281delGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGinsGTCCCGGTCCCGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAG	ENSG00000130695	ENST00000476272	Transcript	downstream_gene_variant	-	-	-	-	-	-	3557	1	CEP85	HGNC	25309	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAC	ENSG00000130695	ENST00000476272	Transcript	downstream_gene_variant	-	-	-	-	-	-	3557	1	CEP85	HGNC	25309	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAG	ENSG00000158062	ENST00000436301	Transcript	downstream_gene_variant	-	-	-	-	-	-	2732	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAC	ENSG00000158062	ENST00000436301	Transcript	downstream_gene_variant	-	-	-	-	-	-	2732	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAG	ENSG00000130695	ENST00000252992	Transcript	downstream_gene_variant	-	-	-	-	-	-	3555	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAC	ENSG00000130695	ENST00000252992	Transcript	downstream_gene_variant	-	-	-	-	-	-	3555	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAG	ENSG00000158062	ENST00000452980	Transcript	downstream_gene_variant	-	-	-	-	-	-	3471	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAC	ENSG00000158062	ENST00000452980	Transcript	downstream_gene_variant	-	-	-	-	-	-	3471	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAG	ENSG00000158062	ENST00000374217	Transcript	feature_truncation	1725-1767	1358-1400	453-467	CPGPGPGPSPGPGPG/SPGPG	tGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGc/tCTCCCGGTCCCGGc	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374217.2:c.1358_1400delGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGinsCTCCCGGTCCCGG	ENSP00000363334.2:p.Cys453_Gly463delinsSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAC	ENSG00000158062	ENST00000374217	Transcript	inframe_deletion	1725-1767	1358-1400	453-467	CPGPGPGPSPGPGPG/CPGPG	tGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGc/tGTCCCGGTCCCGGc	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374217.2:c.1358_1400delGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGinsGTCCCGGTCCCGG	ENSP00000363334.2:p.Pro458_Gly467del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAG	ENSG00000158062	ENST00000374222	Transcript	feature_truncation	1922-1964	1457-1499	486-500	CPGPGPGPSPGPGPG/SPGPG	tGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGc/tCTCCCGGTCCCGGc	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374222.1:c.1457_1499delGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGinsCTCCCGGTCCCGG	ENSP00000363339.1:p.Cys486_Gly496delinsSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAC	ENSG00000158062	ENST00000374222	Transcript	inframe_deletion	1922-1964	1457-1499	486-500	CPGPGPGPSPGPGPG/CPGPG	tGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGc/tGTCCCGGTCCCGGc	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374222.1:c.1457_1499delGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGinsGTCCCGGTCCCGG	ENSP00000363339.1:p.Pro491_Gly500del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAG	ENSG00000158062	ENST00000357089	Transcript	feature_truncation	1434-1476	1358-1400	453-467	CPGPGPGPSPGPGPG/SPGPG	tGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGc/tCTCCCGGTCCCGGc	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000357089.4:c.1358_1400delGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGinsCTCCCGGTCCCGG	ENSP00000349601.4:p.Cys453_Gly463delinsSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAC	ENSG00000158062	ENST00000357089	Transcript	inframe_deletion	1434-1476	1358-1400	453-467	CPGPGPGPSPGPGPG/CPGPG	tGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGc/tGTCCCGGTCCCGGc	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000357089.4:c.1358_1400delGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGinsGTCCCGGTCCCGG	ENSP00000349601.4:p.Pro458_Gly467del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAG	ENSG00000158062	ENST00000314675	Transcript	feature_truncation	1177-1219	1097-1139	366-380	CPGPGPGPSPGPGPG/SPGPG	tGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGc/tCTCCCGGTCCCGGc	-	-	-1	UBXN11	HGNC	30600	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000314675.7:c.1097_1139delGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGinsCTCCCGGTCCCGG	ENSP00000324721.7:p.Cys366_Gly376delinsSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAC	ENSG00000158062	ENST00000314675	Transcript	inframe_deletion	1177-1219	1097-1139	366-380	CPGPGPGPSPGPGPG/CPGPG	tGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGc/tGTCCCGGTCCCGGc	-	-	-1	UBXN11	HGNC	30600	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000314675.7:c.1097_1139delGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGinsGTCCCGGTCCCGG	ENSP00000324721.7:p.Pro371_Gly380del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAG	ENSG00000158062	ENST00000475591	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2419-2461	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000475591.1:n.2419_2461delGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGinsCTCCCGGTCCCGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAC	ENSG00000158062	ENST00000475591	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2419-2461	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000475591.1:n.2419_2461delGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGinsGTCCCGGTCCCGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAG	ENSG00000158062	ENST00000494942	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2204-2246	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000494942.1:n.2204_2246delGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGinsCTCCCGGTCCCGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAC	ENSG00000158062	ENST00000494942	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2204-2246	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000494942.1:n.2204_2246delGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGinsGTCCCGGTCCCGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAG	ENSG00000158062	ENST00000442942	Transcript	downstream_gene_variant	-	-	-	-	-	-	3538	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAC	ENSG00000158062	ENST00000442942	Transcript	downstream_gene_variant	-	-	-	-	-	-	3538	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAG	ENSG00000130695	ENST00000451429	Transcript	downstream_gene_variant	-	-	-	-	-	-	4676	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAC	ENSG00000130695	ENST00000451429	Transcript	downstream_gene_variant	-	-	-	-	-	-	4676	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAG	ENSG00000142669	ENST00000319041	Transcript	downstream_gene_variant	-	-	-	-	-	-	913	1	SH3BGRL3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAC	ENSG00000142669	ENST00000319041	Transcript	downstream_gene_variant	-	-	-	-	-	-	913	1	SH3BGRL3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAG	ENSG00000158062	ENST00000535108	Transcript	downstream_gene_variant	-	-	-	-	-	-	2589	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAC	ENSG00000158062	ENST00000535108	Transcript	downstream_gene_variant	-	-	-	-	-	-	2589	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAG	ENSG00000158062	ENST00000374221	Transcript	feature_truncation	1671-1713	1457-1499	486-500	CPGPGPGPSPGPGPG/SPGPG	tGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGc/tCTCCCGGTCCCGGc	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374221.3:c.1457_1499delGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGinsCTCCCGGTCCCGG	ENSP00000363338.3:p.Cys486_Gly496delinsSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAC	ENSG00000158062	ENST00000374221	Transcript	inframe_deletion	1671-1713	1457-1499	486-500	CPGPGPGPSPGPGPG/CPGPG	tGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGc/tGTCCCGGTCCCGGc	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374221.3:c.1457_1499delGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGinsGTCCCGGTCCCGG	ENSP00000363338.3:p.Pro491_Gly500del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAG	ENSG00000158062	ENST00000472155	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2522-2564	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000472155.1:n.2522_2564delGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGinsCTCCCGGTCCCGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAC	ENSG00000158062	ENST00000472155	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2522-2564	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000472155.1:n.2522_2564delGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGinsGTCCCGGTCCCGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAG	ENSG00000142669	ENST00000270792	Transcript	downstream_gene_variant	-	-	-	-	-	-	847	1	SH3BGRL3	HGNC	15568	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAC	ENSG00000142669	ENST00000270792	Transcript	downstream_gene_variant	-	-	-	-	-	-	847	1	SH3BGRL3	HGNC	15568	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAG	ENSG00000130695	ENST00000453146	Transcript	downstream_gene_variant	-	-	-	-	-	-	3556	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAC	ENSG00000130695	ENST00000453146	Transcript	downstream_gene_variant	-	-	-	-	-	-	3556	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAG	ENSG00000130695	ENST00000469609	Transcript	downstream_gene_variant	-	-	-	-	-	-	3556	1	CEP85	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAC	ENSG00000130695	ENST00000469609	Transcript	downstream_gene_variant	-	-	-	-	-	-	3556	1	CEP85	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAG	ENSG00000158062	ENST00000374223	Transcript	feature_truncation	1189-1231	728-770	243-257	CPGPGPGPSPGPGPG/SPGPG	tGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGc/tCTCCCGGTCCCGGc	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374223.1:c.728_770delGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGinsCTCCCGGTCCCGG	ENSP00000363340.1:p.Cys243_Gly253delinsSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAC	ENSG00000158062	ENST00000374223	Transcript	inframe_deletion	1189-1231	728-770	243-257	CPGPGPGPSPGPGPG/CPGPG	tGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGc/tGTCCCGGTCCCGGc	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374223.1:c.728_770delGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGinsGTCCCGGTCCCGG	ENSP00000363340.1:p.Pro248_Gly257del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAG	-	ENSR00000533083	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608896	CCGGGACCGGGAC	-	ENSR00000533083	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608853-26608883	-	ENSG00000158062	ENST00000374215	Transcript	downstream_gene_variant	-	-	-	-	-	COSM907610	3068	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	1:26608853-26608883	-	ENSG00000158062	ENST00000496466	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2252-2281	-	-	-	-	COSM907610	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000496466.1:n.2252_2281delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	1:26608853-26608883	-	ENSG00000130695	ENST00000476272	Transcript	downstream_gene_variant	-	-	-	-	-	COSM907610	3557	1	CEP85	HGNC	25309	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	1:26608853-26608883	-	ENSG00000158062	ENST00000436301	Transcript	downstream_gene_variant	-	-	-	-	-	COSM907610	2745	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	1:26608853-26608883	-	ENSG00000130695	ENST00000252992	Transcript	downstream_gene_variant	-	-	-	-	-	COSM907610	3555	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	1:26608853-26608883	-	ENSG00000158062	ENST00000452980	Transcript	downstream_gene_variant	-	-	-	-	-	COSM907610	3484	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	1:26608853-26608883	-	ENSG00000158062	ENST00000374217	Transcript	inframe_deletion	1738-1767	1371-1400	457-467	GPGPSPGPGPG/G	ggTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGc/ggc	COSM907610	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374217.2:c.1371_1400delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGG	ENSP00000363334.2:p.Pro458_Gly467del	-	-	-	-	-	-	-	-	1	-	-	-	-
.	1:26608853-26608883	-	ENSG00000158062	ENST00000374222	Transcript	inframe_deletion	1935-1964	1470-1499	490-500	GPGPSPGPGPG/G	ggTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGc/ggc	COSM907610	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374222.1:c.1470_1499delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGG	ENSP00000363339.1:p.Pro491_Gly500del	-	-	-	-	-	-	-	-	1	-	-	-	-
.	1:26608853-26608883	-	ENSG00000158062	ENST00000357089	Transcript	inframe_deletion	1447-1476	1371-1400	457-467	GPGPSPGPGPG/G	ggTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGc/ggc	COSM907610	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000357089.4:c.1371_1400delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGG	ENSP00000349601.4:p.Pro458_Gly467del	-	-	-	-	-	-	-	-	1	-	-	-	-
.	1:26608853-26608883	-	ENSG00000158062	ENST00000314675	Transcript	inframe_deletion	1190-1219	1110-1139	370-380	GPGPSPGPGPG/G	ggTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGc/ggc	COSM907610	-	-1	UBXN11	HGNC	30600	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000314675.7:c.1110_1139delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGG	ENSP00000324721.7:p.Pro371_Gly380del	-	-	-	-	-	-	-	-	1	-	-	-	-
.	1:26608853-26608883	-	ENSG00000158062	ENST00000475591	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2432-2461	-	-	-	-	COSM907610	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000475591.1:n.2432_2461delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	1:26608853-26608883	-	ENSG00000158062	ENST00000494942	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2217-2246	-	-	-	-	COSM907610	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000494942.1:n.2217_2246delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	1:26608853-26608883	-	ENSG00000158062	ENST00000442942	Transcript	downstream_gene_variant	-	-	-	-	-	COSM907610	3551	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	1:26608853-26608883	-	ENSG00000130695	ENST00000451429	Transcript	downstream_gene_variant	-	-	-	-	-	COSM907610	4676	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	1:26608853-26608883	-	ENSG00000142669	ENST00000319041	Transcript	downstream_gene_variant	-	-	-	-	-	COSM907610	913	1	SH3BGRL3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	1:26608853-26608883	-	ENSG00000158062	ENST00000535108	Transcript	downstream_gene_variant	-	-	-	-	-	COSM907610	2602	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	1:26608853-26608883	-	ENSG00000158062	ENST00000374221	Transcript	inframe_deletion	1684-1713	1470-1499	490-500	GPGPSPGPGPG/G	ggTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGc/ggc	COSM907610	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374221.3:c.1470_1499delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGG	ENSP00000363338.3:p.Pro491_Gly500del	-	-	-	-	-	-	-	-	1	-	-	-	-
.	1:26608853-26608883	-	ENSG00000158062	ENST00000472155	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2535-2564	-	-	-	-	COSM907610	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000472155.1:n.2535_2564delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	1:26608853-26608883	-	ENSG00000142669	ENST00000270792	Transcript	downstream_gene_variant	-	-	-	-	-	COSM907610	847	1	SH3BGRL3	HGNC	15568	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	1:26608853-26608883	-	ENSG00000130695	ENST00000453146	Transcript	downstream_gene_variant	-	-	-	-	-	COSM907610	3556	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	1:26608853-26608883	-	ENSG00000130695	ENST00000469609	Transcript	downstream_gene_variant	-	-	-	-	-	COSM907610	3556	1	CEP85	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	1:26608853-26608883	-	ENSG00000158062	ENST00000374223	Transcript	inframe_deletion	1202-1231	741-770	247-257	GPGPSPGPGPG/G	ggTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGc/ggc	COSM907610	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374223.1:c.741_770delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGG	ENSP00000363340.1:p.Pro248_Gly257del	-	-	-	-	-	-	-	-	1	-	-	-	-
.	1:26608853-26608883	-	-	ENSR00000533083	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	COSM907610	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	1:26608865-26608896	G	ENSG00000158062	ENST00000374215	Transcript	downstream_gene_variant	-	-	-	-	-	-	3055	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608865-26608896	G	ENSG00000158062	ENST00000496466	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2239-2269	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000496466.1:n.2239_2269delGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGinsC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608865-26608896	G	ENSG00000130695	ENST00000476272	Transcript	downstream_gene_variant	-	-	-	-	-	-	3569	1	CEP85	HGNC	25309	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608865-26608896	G	ENSG00000158062	ENST00000436301	Transcript	downstream_gene_variant	-	-	-	-	-	-	2732	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608865-26608896	G	ENSG00000130695	ENST00000252992	Transcript	downstream_gene_variant	-	-	-	-	-	-	3567	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608865-26608896	G	ENSG00000158062	ENST00000452980	Transcript	downstream_gene_variant	-	-	-	-	-	-	3471	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608865-26608896	G	ENSG00000158062	ENST00000374217	Transcript	feature_truncation	1725-1755	1358-1388	453-463	CPGPGPGPSPG/S	tGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGt/tCt	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374217.2:c.1358_1388delGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGinsC	ENSP00000363334.2:p.Cys453_Gly463delinsSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608865-26608896	G	ENSG00000158062	ENST00000374222	Transcript	feature_truncation	1922-1952	1457-1487	486-496	CPGPGPGPSPG/S	tGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGt/tCt	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374222.1:c.1457_1487delGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGinsC	ENSP00000363339.1:p.Cys486_Gly496delinsSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608865-26608896	G	ENSG00000158062	ENST00000357089	Transcript	feature_truncation	1434-1464	1358-1388	453-463	CPGPGPGPSPG/S	tGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGt/tCt	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000357089.4:c.1358_1388delGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGinsC	ENSP00000349601.4:p.Cys453_Gly463delinsSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608865-26608896	G	ENSG00000158062	ENST00000314675	Transcript	feature_truncation	1177-1207	1097-1127	366-376	CPGPGPGPSPG/S	tGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGt/tCt	-	-	-1	UBXN11	HGNC	30600	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000314675.7:c.1097_1127delGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGinsC	ENSP00000324721.7:p.Cys366_Gly376delinsSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608865-26608896	G	ENSG00000158062	ENST00000475591	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2419-2449	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000475591.1:n.2419_2449delGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGinsC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608865-26608896	G	ENSG00000158062	ENST00000494942	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2204-2234	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000494942.1:n.2204_2234delGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGinsC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608865-26608896	G	ENSG00000158062	ENST00000442942	Transcript	downstream_gene_variant	-	-	-	-	-	-	3538	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608865-26608896	G	ENSG00000130695	ENST00000451429	Transcript	downstream_gene_variant	-	-	-	-	-	-	4688	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608865-26608896	G	ENSG00000142669	ENST00000319041	Transcript	downstream_gene_variant	-	-	-	-	-	-	925	1	SH3BGRL3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608865-26608896	G	ENSG00000158062	ENST00000535108	Transcript	downstream_gene_variant	-	-	-	-	-	-	2589	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608865-26608896	G	ENSG00000158062	ENST00000374221	Transcript	feature_truncation	1671-1701	1457-1487	486-496	CPGPGPGPSPG/S	tGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGt/tCt	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374221.3:c.1457_1487delGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGinsC	ENSP00000363338.3:p.Cys486_Gly496delinsSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608865-26608896	G	ENSG00000158062	ENST00000472155	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2522-2552	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000472155.1:n.2522_2552delGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGinsC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608865-26608896	G	ENSG00000142669	ENST00000270792	Transcript	downstream_gene_variant	-	-	-	-	-	-	859	1	SH3BGRL3	HGNC	15568	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608865-26608896	G	ENSG00000130695	ENST00000453146	Transcript	downstream_gene_variant	-	-	-	-	-	-	3568	1	CEP85	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608865-26608896	G	ENSG00000130695	ENST00000469609	Transcript	downstream_gene_variant	-	-	-	-	-	-	3568	1	CEP85	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608865-26608896	G	ENSG00000158062	ENST00000374223	Transcript	feature_truncation	1189-1219	728-758	243-253	CPGPGPGPSPG/S	tGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGt/tCt	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000374223.1:c.728_758delGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGinsC	ENSP00000363340.1:p.Cys243_Gly253delinsSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26608865-26608896	G	-	ENSR00000533083	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611863	-	ENSG00000158062	ENST00000374215	Transcript	downstream_gene_variant	-	-	-	-	-	-	88	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611863	-	ENSG00000158062	ENST00000496466	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	709-718	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000496466.1:n.709_718delGCCGCTGCAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611863	-	ENSG00000158062	ENST00000436301	Transcript	frameshift_variant,feature_truncation	819-828	719-728	240-243	-	-	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	-	ENST00000436301.2:c.719_728delGCCGCTGCAC	ENSP00000393858.2:p.Ser240IlefsTer?	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611863	-	ENSG00000158062	ENST00000452980	Transcript	downstream_gene_variant	-	-	-	-	-	-	504	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611863	-	ENSG00000158062	ENST00000374217	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	-	ENST00000374217.2:c.753+92_753+101delGCCGCTGCAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611863	-	ENSG00000158062	ENST00000374222	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	-	ENST00000374222.1:c.852+92_852+101delGCCGCTGCAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611863	-	ENSG00000158062	ENST00000357089	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	-	ENST00000357089.4:c.753+92_753+101delGCCGCTGCAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611863	-	ENSG00000158062	ENST00000314675	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	UBXN11	HGNC	30600	protein_coding	-	-	-	ENST00000314675.7:c.492+92_492+101delGCCGCTGCAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611863	-	ENSG00000158062	ENST00000475591	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	925-934	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000475591.1:n.925_934delGCCGCTGCAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611863	-	ENSG00000158062	ENST00000494942	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	710-719	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000494942.1:n.710_719delGCCGCTGCAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611863	-	ENSG00000158062	ENST00000442942	Transcript	downstream_gene_variant	-	-	-	-	-	-	571	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611863	-	ENSG00000142669	ENST00000319041	Transcript	downstream_gene_variant	-	-	-	-	-	-	3913	1	SH3BGRL3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611863	-	ENSG00000158062	ENST00000374221	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	-	ENST00000374221.3:c.852+92_852+101delGCCGCTGCAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611863	-	ENSG00000158062	ENST00000535108	Transcript	frameshift_variant,feature_truncation	556-565	470-479	157-160	-	-	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	-	ENST00000535108.1:c.470_479delGCCGCTGCAC	ENSP00000446034.1:p.Ser157IlefsTer76	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611863	-	ENSG00000158062	ENST00000472155	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	1028-1037	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000472155.1:n.1028_1037delGCCGCTGCAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611863	-	ENSG00000142669	ENST00000270792	Transcript	downstream_gene_variant	-	-	-	-	-	-	3847	1	SH3BGRL3	HGNC	15568	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611863	-	ENSG00000158062	ENST00000374223	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	-	ENST00000374223.1:c.123+92_123+101delGCCGCTGCAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611863	-	-	ENSR00000533085	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611866	CCT	ENSG00000158062	ENST00000374215	Transcript	downstream_gene_variant	-	-	-	-	-	-	85	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611866	CCT	ENSG00000158062	ENST00000496466	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	706-718	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000496466.1:n.706_718delGAAGCCGCTGCACinsAGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611866	CCT	ENSG00000158062	ENST00000436301	Transcript	frameshift_variant,feature_truncation	816-828	716-728	239-243	-	-	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Superfamily_domains:SSF102848	ENST00000436301.2:c.716_728delGAAGCCGCTGCACinsAGG	ENSP00000393858.2:p.Gly239GlufsTer?	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611866	CCT	ENSG00000158062	ENST00000452980	Transcript	downstream_gene_variant	-	-	-	-	-	-	501	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611866	CCT	ENSG00000158062	ENST00000374217	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	-	ENST00000374217.2:c.753+89_753+101delGAAGCCGCTGCACinsAGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611866	CCT	ENSG00000158062	ENST00000374222	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	-	ENST00000374222.1:c.852+89_852+101delGAAGCCGCTGCACinsAGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611866	CCT	ENSG00000158062	ENST00000357089	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	-	ENST00000357089.4:c.753+89_753+101delGAAGCCGCTGCACinsAGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611866	CCT	ENSG00000158062	ENST00000314675	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	UBXN11	HGNC	30600	protein_coding	-	-	-	ENST00000314675.7:c.492+89_492+101delGAAGCCGCTGCACinsAGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611866	CCT	ENSG00000158062	ENST00000475591	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	922-934	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000475591.1:n.922_934delGAAGCCGCTGCACinsAGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611866	CCT	ENSG00000158062	ENST00000494942	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	707-719	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000494942.1:n.707_719delGAAGCCGCTGCACinsAGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611866	CCT	ENSG00000158062	ENST00000442942	Transcript	downstream_gene_variant	-	-	-	-	-	-	568	-1	UBXN11	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611866	CCT	ENSG00000142669	ENST00000319041	Transcript	downstream_gene_variant	-	-	-	-	-	-	3913	1	SH3BGRL3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611866	CCT	ENSG00000158062	ENST00000374221	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	-	ENST00000374221.3:c.852+89_852+101delGAAGCCGCTGCACinsAGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611866	CCT	ENSG00000158062	ENST00000535108	Transcript	frameshift_variant,feature_truncation	553-565	467-479	156-160	-	-	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	Superfamily_domains:SSF102848	ENST00000535108.1:c.467_479delGAAGCCGCTGCACinsAGG	ENSP00000446034.1:p.Gly156GlufsTer77	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611866	CCT	ENSG00000158062	ENST00000472155	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	1025-1037	-	-	-	-	-	-	-1	UBXN11	HGNC	-	retained_intron	-	-	-	ENST00000472155.1:n.1025_1037delGAAGCCGCTGCACinsAGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611866	CCT	ENSG00000142669	ENST00000270792	Transcript	downstream_gene_variant	-	-	-	-	-	-	3847	1	SH3BGRL3	HGNC	15568	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611866	CCT	ENSG00000158062	ENST00000374223	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	UBXN11	HGNC	-	protein_coding	-	-	-	ENST00000374223.1:c.123+89_123+101delGAAGCCGCTGCACinsAGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:26611853-26611866	CCT	-	ENSR00000533085	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:28268829-28268835	CCCCCCC	ENSG00000130768	ENST00000373888	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	SMPDL3B	HGNC	-	protein_coding	-	-	-	ENST00000373888.4:c.62-2913_62-2908delCCCCCAinsCCCCCCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:28268829-28268835	CCCCGCC	ENSG00000130768	ENST00000373888	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	SMPDL3B	HGNC	-	protein_coding	-	-	-	ENST00000373888.4:c.62-2913_62-2908delCCCCCAinsCCCCGCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:28268829-28268835	CCCCCCC	ENSG00000130768	ENST00000411604	Transcript	frameshift_variant,feature_elongation	251-256	106-111	36-37	-	-	-	-	1	SMPDL3B	HGNC	-	protein_coding	-	-	-	ENST00000411604.1:c.106_111delCCCCCAinsCCCCCCC	ENSP00000388092.1:p.Thr38HisfsTer21	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:28268829-28268835	CCCCGCC	ENSG00000130768	ENST00000411604	Transcript	frameshift_variant,feature_elongation	251-256	106-111	36-37	-	-	-	-	1	SMPDL3B	HGNC	-	protein_coding	-	-	-	ENST00000411604.1:c.106_111delCCCCCAinsCCCCGCC	ENSP00000388092.1:p.Pro37ArgfsTer22	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:28268829-28268835	CCCCCCC	ENSG00000130768	ENST00000548116	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	SMPDL3B	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000548116.1:c.62-2913_62-2908delCCCCCAinsCCCCCCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:28268829-28268835	CCCCGCC	ENSG00000130768	ENST00000548116	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	SMPDL3B	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000548116.1:c.62-2913_62-2908delCCCCCAinsCCCCGCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:28268829-28268835	CCCCCCC	ENSG00000227050	ENST00000448015	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	RP11-460I13.2	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000448015.1:n.287-3245_287-3240delTGGGGGinsGGGGGGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:28268829-28268835	CCCCGCC	ENSG00000227050	ENST00000448015	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	RP11-460I13.2	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000448015.1:n.287-3245_287-3240delTGGGGGinsGGCGGGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:28268829-28268835	CCCCCCC	ENSG00000130768	ENST00000549094	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	SMPDL3B	HGNC	-	protein_coding	-	-	-	ENST00000549094.1:c.62-2913_62-2908delCCCCCAinsCCCCCCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:28268829-28268835	CCCCGCC	ENSG00000130768	ENST00000549094	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	SMPDL3B	HGNC	-	protein_coding	-	-	-	ENST00000549094.1:c.62-2913_62-2908delCCCCCAinsCCCCGCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:28268829-28268835	CCCCCCC	ENSG00000130768	ENST00000373894	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	SMPDL3B	HGNC	21416	protein_coding	-	-	-	ENST00000373894.3:c.62-2913_62-2908delCCCCCAinsCCCCCCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:28268829-28268835	CCCCGCC	ENSG00000130768	ENST00000373894	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	SMPDL3B	HGNC	21416	protein_coding	-	-	-	ENST00000373894.3:c.62-2913_62-2908delCCCCCAinsCCCCGCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:28268829-28268835	CCCCCCC	ENSG00000130768	ENST00000466793	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	467-472	-	-	-	-	-	-	1	SMPDL3B	HGNC	-	processed_transcript	-	-	-	ENST00000466793.1:n.467_472delCCCCCAinsCCCCCCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:28268829-28268835	CCCCGCC	ENSG00000130768	ENST00000466793	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	467-472	-	-	-	-	-	-	1	SMPDL3B	HGNC	-	processed_transcript	-	-	-	ENST00000466793.1:n.467_472delCCCCCAinsCCCCGCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:32120943-32120956	AGCT	ENSG00000084636	ENST00000488128	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2148-2160	-	-	-	-	-	-	-1	COL16A1	HGNC	-	retained_intron	-	-	-	ENST00000488128.2:n.2148_2160delCCTTCGGGGAGCCinsAGCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:32120943-32120956	AGCT	ENSG00000235790	ENST00000589462	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	RP11-73M7.6	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000589462.1:n.261-609_261-597delGGCTCCCCGAAGGinsAGCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:32120943-32120956	AGCT	ENSG00000235790	ENST00000588288	Transcript	upstream_gene_variant	-	-	-	-	-	-	1903	1	RP11-73M7.6	Clone_based_vega_gene	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:32120943-32120956	AGCT	ENSG00000235790	ENST00000609338	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	RP11-73M7.6	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000609338.1:n.202-1554_202-1542delGGCTCCCCGAAGGinsAGCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:32120943-32120956	AGCT	ENSG00000235790	ENST00000609373	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	RP11-73M7.6	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000609373.1:n.228-568_228-556delGGCTCCCCGAAGGinsAGCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:32120943-32120956	AGCT	ENSG00000235790	ENST00000593188	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	RP11-73M7.6	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000593188.1:n.236-1554_236-1542delGGCTCCCCGAAGGinsAGCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:32120943-32120956	AGCT	ENSG00000084636	ENST00000488897	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	1794-1806	-	-	-	-	-	-	-1	COL16A1	HGNC	-	retained_intron	-	-	-	ENST00000488897.1:n.1794_1806delCCTTCGGGGAGCCinsAGCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:32120943-32120956	AGCT	ENSG00000084636	ENST00000271069	Transcript	feature_truncation	4614-4626	4249-4261	1417-1421	PSGSP/SS	CCTTCGGGGAGCCct/AGCTct	-	-	-1	COL16A1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Pfam_domain:PF01391,PROSITE_profiles:PS50315,PROSITE_profiles:PS50099	ENST00000271069.6:c.4249_4261delCCTTCGGGGAGCCinsAGCT	ENSP00000271069.6:p.Pro1417_Pro1421delinsSerSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:32120943-32120956	AGCT	ENSG00000235790	ENST00000609625	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	RP11-73M7.6	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000609625.1:n.389-1554_389-1542delGGCTCCCCGAAGGinsAGCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:32120943-32120956	AGCT	ENSG00000235790	ENST00000609033	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	RP11-73M7.6	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000609033.1:n.261-609_261-597delGGCTCCCCGAAGGinsAGCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:32120943-32120956	AGCT	ENSG00000235790	ENST00000585413	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	RP11-73M7.6	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000585413.1:n.271-568_271-556delGGCTCCCCGAAGGinsAGCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:32120943-32120956	AGCT	ENSG00000235790	ENST00000587445	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	RP11-73M7.6	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000587445.1:n.228-609_228-597delGGCTCCCCGAAGGinsAGCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:32120943-32120956	AGCT	ENSG00000235790	ENST00000610216	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	RP11-73M7.6	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000610216.1:n.231-609_231-597delGGCTCCCCGAAGGinsAGCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:32120943-32120956	AGCT	ENSG00000235790	ENST00000445166	Transcript	upstream_gene_variant	-	-	-	-	-	-	754	1	RP11-73M7.6	Clone_based_vega_gene	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:32120943-32120956	AGCT	ENSG00000235790	ENST00000608332	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	RP11-73M7.6	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000608332.1:n.228-1554_228-1542delGGCTCCCCGAAGGinsAGCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:32120943-32120956	AGCT	ENSG00000084636	ENST00000373672	Transcript	feature_truncation	4766-4778	4249-4261	1417-1421	PSGSP/SS	CCTTCGGGGAGCCct/AGCTct	-	-	-1	COL16A1	HGNC	2193	protein_coding	-	-	Low_complexity_(Seg):Seg,Pfam_domain:PF01391,PROSITE_profiles:PS50315,PROSITE_profiles:PS50099	ENST00000373672.3:c.4249_4261delCCTTCGGGGAGCCinsAGCT	ENSP00000362776.3:p.Pro1417_Pro1421delinsSerSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:32120943-32120956	AGCT	ENSG00000235790	ENST00000609549	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	RP11-73M7.6	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000609549.1:n.389-609_389-597delGGCTCCCCGAAGGinsAGCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:32120943-32120956	AGCT	ENSG00000235790	ENST00000607926	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	RP11-73M7.6	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000607926.1:n.239-609_239-597delGGCTCCCCGAAGGinsAGCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:32120943-32120956	AGCT	ENSG00000235790	ENST00000610043	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	RP11-73M7.6	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000610043.1:n.523-568_523-556delGGCTCCCCGAAGGinsAGCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:32120943-32120956	AGCT	ENSG00000084636	ENST00000440437	Transcript	downstream_gene_variant	-	-	-	-	-	-	1045	-1	COL16A1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:32120943-32120956	AGCT	ENSG00000084636	ENST00000461217	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	494-506	-	-	-	-	-	-	-1	COL16A1	HGNC	-	processed_transcript	-	-	-	ENST00000461217.1:n.494_506delCCTTCGGGGAGCCinsAGCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:32120943-32120956	AGCT	ENSG00000235790	ENST00000608246	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	RP11-73M7.6	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000608246.1:n.271-1554_271-1542delGGCTCCCCGAAGGinsAGCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:32120943-32120956	AGCT	ENSG00000235790	ENST00000585660	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	RP11-73M7.6	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000585660.1:n.273-568_273-556delGGCTCCCCGAAGGinsAGCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:32120943-32120956	AGCT	ENSG00000235790	ENST00000608888	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	RP11-73M7.6	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000608888.1:n.252-1554_252-1542delGGCTCCCCGAAGGinsAGCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:32120943-32120956	AGCT	ENSG00000235790	ENST00000591592	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	RP11-73M7.6	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000591592.1:n.251-1554_251-1542delGGCTCCCCGAAGGinsAGCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:32120943-32120956	AGCT	ENSG00000235790	ENST00000591929	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	RP11-73M7.6	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000591929.1:n.340-609_340-597delGGCTCCCCGAAGGinsAGCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:46871319-46871334	GGTTGA	ENSG00000117480	ENST00000493636	Transcript	upstream_gene_variant	-	-	-	-	-	-	4390	1	FAAH	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:46871319-46871334	GGTTGA	ENSG00000117480	ENST00000489366	Transcript	upstream_gene_variant	-	-	-	-	-	-	376	1	FAAH	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:46871319-46871334	GGTTGA	ENSG00000117480	ENST00000468718	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	628-642	-	-	-	-	-	-	1	FAAH	HGNC	-	processed_transcript	-	-	-	ENST00000468718.1:n.628_642delCCCAGGGGGCTCCTCinsGGTTGA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:46871319-46871334	GGTTGA	ENSG00000117480	ENST00000484697	Transcript	upstream_gene_variant	-	-	-	-	-	-	61	1	FAAH	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:46871319-46871334	GGTTGA	ENSG00000117480	ENST00000493735	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	617-631	-	-	-	-	-	-	1	FAAH	HGNC	-	processed_transcript	-	-	-	ENST00000493735.1:n.617_631delCCCAGGGGGCTCCTCinsGGTTGA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:46871319-46871334	GGTTGA	ENSG00000117480	ENST00000243167	Transcript	feature_truncation	723-737	639-653	213-218	SPGGSS/RVE	agCCCAGGGGGCTCCTCa/agGGTTGAa	-	-	1	FAAH	HGNC	3553	protein_coding	-	-	Low_complexity_(Seg):Seg,Pfam_domain:PF01425,Superfamily_domains:SSF75304,PIRSF_domain:PIRSF001221	ENST00000243167.8:c.639_653delCCCAGGGGGCTCCTCinsGGTTGA	ENSP00000243167.8:p.Ser213_Ser218delinsArgValGlu	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:53793510-53793529	C	ENSG00000157193	ENST00000480045	Transcript	NMD_transcript_variant,feature_truncation	214-232	56-74	19-25	LLLLLLQ/R	cTGCTGCTGCTGCTGCTGCAg/cGg	-	-	-1	LRP8	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,Cleavage_site_(Signalp):Sigp,PROSITE_profiles:PS50319	ENST00000480045.1:c.56_74delTGCTGCTGCTGCTGCTGCAinsG	ENSP00000433554.1:p.Leu19_Gln25delinsArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:53793510-53793529	C	ENSG00000157193	ENST00000496580	Transcript	upstream_gene_variant	-	-	-	-	-	-	22	-1	LRP8	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:53793510-53793529	C	ENSG00000157193	ENST00000465675	Transcript	upstream_gene_variant	-	-	-	-	-	-	440	-1	LRP8	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:53793510-53793529	C	ENSG00000157193	ENST00000371454	Transcript	feature_truncation	198-216	56-74	19-25	LLLLLLQ/R	cTGCTGCTGCTGCTGCTGCAg/cGg	-	-	-1	LRP8	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Cleavage_site_(Signalp):Sigp,Transmembrane_helices:Tmhmm,PROSITE_profiles:PS50319	ENST00000371454.2:c.56_74delTGCTGCTGCTGCTGCTGCAinsG	ENSP00000360509.2:p.Leu19_Gln25delinsArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:53793510-53793529	C	ENSG00000157193	ENST00000354412	Transcript	feature_truncation	56-74	56-74	19-25	LLLLLLQ/R	cTGCTGCTGCTGCTGCTGCAg/cGg	-	-	-1	LRP8	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Cleavage_site_(Signalp):Sigp,Transmembrane_helices:Tmhmm,PROSITE_profiles:PS50319	ENST00000354412.3:c.56_74delTGCTGCTGCTGCTGCTGCAinsG	ENSP00000346391.3:p.Leu19_Gln25delinsArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:53793510-53793529	C	ENSG00000157193	ENST00000306052	Transcript	feature_truncation	158-176	56-74	19-25	LLLLLLQ/R	cTGCTGCTGCTGCTGCTGCAg/cGg	-	-	-1	LRP8	HGNC	6700	protein_coding	-	-	Low_complexity_(Seg):Seg,Cleavage_site_(Signalp):Sigp,Transmembrane_helices:Tmhmm,PROSITE_profiles:PS50319	ENST00000306052.6:c.56_74delTGCTGCTGCTGCTGCTGCAinsG	ENSP00000303634.6:p.Leu19_Gln25delinsArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:53793510-53793529	C	ENSG00000225675	ENST00000445039	Transcript	upstream_gene_variant	-	-	-	-	-	-	376	1	RP4-784A16.5	Clone_based_vega_gene	-	lincRNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:53793510-53793529	C	ENSG00000157193	ENST00000347547	Transcript	feature_truncation	56-74	56-74	19-25	LLLLLLQ/R	cTGCTGCTGCTGCTGCTGCAg/cGg	-	-	-1	LRP8	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Cleavage_site_(Signalp):Sigp,Transmembrane_helices:Tmhmm,PROSITE_profiles:PS50319	ENST00000347547.2:c.56_74delTGCTGCTGCTGCTGCTGCAinsG	ENSP00000334522.2:p.Leu19_Gln25delinsArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:53793510-53793529	C	-	ENSR00000536699	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:120612002-120612004	-	ENSG00000134250	ENST00000479412	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	237-238	-	-	-	-	COSM132830,rs372504208	-	-1	NOTCH2	HGNC	-	retained_intron	-	-	-	ENST00000479412.2:n.237_238delCC	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	1:120612002-120612004	-	ENSG00000134250	ENST00000256646	Transcript	frameshift_variant,feature_truncation	237-238	17-18	6	-	-	COSM132830,rs372504208	-	-1	NOTCH2	HGNC	7882	protein_coding	-	-	Low_complexity_(Seg):Seg,Cleavage_site_(Signalp):Sigp,PIRSF_domain:PIRSF002279	ENST00000256646.2:c.17_18delCC	ENSP00000256646.2:p.Pro6ArgfsTer27	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	1:120612002-120612004	-	-	ENSR00000543701	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	COSM132830,rs372504208	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	1:120612004-120612014	CGCAGGAA	ENSG00000134250	ENST00000479412	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	227-236	-	-	-	-	-	-	-1	NOTCH2	HGNC	-	retained_intron	-	-	-	ENST00000479412.2:n.227_236delGCCCTGCGCCinsTTCCTGCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:120612004-120612014	CGCAGGAA	ENSG00000134250	ENST00000256646	Transcript	frameshift_variant,feature_truncation	227-236	7-16	3-6	-	-	-	-	-1	NOTCH2	HGNC	7882	protein_coding	-	-	Low_complexity_(Seg):Seg,Cleavage_site_(Signalp):Sigp,PIRSF_domain:PIRSF002279	ENST00000256646.2:c.7_16delGCCCTGCGCCinsTTCCTGCG	ENSP00000256646.2:p.Ala3PhefsTer30	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:120612004-120612014	CGCAGGAA	-	ENSR00000543701	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:145586669-145586675	-	ENSG00000186364	ENST00000460879	Transcript	downstream_gene_variant	-	-	-	-	-	-	704	-1	NUDT17	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:145586669-145586675	-	ENSG00000186364	ENST00000444015	Transcript	downstream_gene_variant	-	-	-	-	-	-	696	-1	NUDT17	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:145586669-145586675	-	ENSG00000186364	ENST00000477878	Transcript	downstream_gene_variant	-	-	-	-	-	-	132	-1	NUDT17	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:145586669-145586675	-	ENSG00000131788	ENST00000475261	Transcript	downstream_gene_variant	-	-	-	-	-	-	124	1	PIAS3	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:145586669-145586675	-	ENSG00000131788	ENST00000393045	Transcript	downstream_gene_variant	-	-	-	-	-	-	124	1	PIAS3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:145586669-145586675	-	ENSG00000186364	ENST00000334513	Transcript	inframe_deletion	913-918	901-906	301-302	KS/-	AAAAGT/-	-	-	-1	NUDT17	HGNC	26618	protein_coding	-	-	-	ENST00000334513.5:c.901_906delAAAAGT	ENSP00000334437.5:p.Lys301_Ser302del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:145586669-145586675	-	ENSG00000131788	ENST00000369298	Transcript	downstream_gene_variant	-	-	-	-	-	-	124	1	PIAS3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:145586669-145586675	-	ENSG00000131788	ENST00000472114	Transcript	downstream_gene_variant	-	-	-	-	-	-	124	1	PIAS3	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:145586669-145586675	-	ENSG00000186364	ENST00000498192	Transcript	downstream_gene_variant	-	-	-	-	-	-	129	-1	NUDT17	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:145586671-145586679	CA	ENSG00000186364	ENST00000460879	Transcript	downstream_gene_variant	-	-	-	-	-	-	700	-1	NUDT17	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:145586671-145586679	CA	ENSG00000186364	ENST00000444015	Transcript	downstream_gene_variant	-	-	-	-	-	-	692	-1	NUDT17	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:145586671-145586679	CA	ENSG00000186364	ENST00000477878	Transcript	downstream_gene_variant	-	-	-	-	-	-	128	-1	NUDT17	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:145586671-145586679	CA	ENSG00000131788	ENST00000475261	Transcript	downstream_gene_variant	-	-	-	-	-	-	126	1	PIAS3	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:145586671-145586679	CA	ENSG00000131788	ENST00000393045	Transcript	downstream_gene_variant	-	-	-	-	-	-	126	1	PIAS3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:145586671-145586679	CA	ENSG00000186364	ENST00000334513	Transcript	feature_truncation	909-916	897-904	299-302	PCKS/PG	ccGTGTAAAAgt/ccTGgt	-	-	-1	NUDT17	HGNC	26618	protein_coding	-	-	-	ENST00000334513.5:c.897_904delGTGTAAAAinsTG	ENSP00000334437.5:p.Cys300_Ser302delinsGly	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:145586671-145586679	CA	ENSG00000131788	ENST00000369298	Transcript	downstream_gene_variant	-	-	-	-	-	-	126	1	PIAS3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:145586671-145586679	CA	ENSG00000131788	ENST00000472114	Transcript	downstream_gene_variant	-	-	-	-	-	-	126	1	PIAS3	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:145586671-145586679	CA	ENSG00000186364	ENST00000498192	Transcript	downstream_gene_variant	-	-	-	-	-	-	125	-1	NUDT17	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457784	-	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2909_1894-2889delTCTCTCCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457784	TCTCTCTCTTTCTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2909_1894-2889delTCTCTCCTTTCTTTCTTTCTTinsTCTCTCTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457784	TCTCTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2909_1894-2889delTCTCTCCTTTCTTTCTTTCTTinsTCTCTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457784	-	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2909_2092-2889delTCTCTCCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457784	TCTCTCTCTTTCTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2909_2092-2889delTCTCTCCTTTCTTTCTTTCTTinsTCTCTCTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457784	TCTCTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2909_2092-2889delTCTCTCCTTTCTTTCTTTCTTinsTCTCTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457784	-	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3054	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457784	TCTCTCTCTTTCTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3054	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457784	TCTCTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3054	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457784	-	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2909_*267-2889delTCTCTCCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457784	TCTCTCTCTTTCTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2909_*267-2889delTCTCTCCTTTCTTTCTTTCTTinsTCTCTCTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457784	TCTCTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2909_*267-2889delTCTCTCCTTTCTTTCTTTCTTinsTCTCTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457784	-	ENSG00000269064	ENST00000600581	Transcript	inframe_deletion	22-42	22-42	8-14	KKERKER/-	AAGAAAGAAAGAAAGGAGAGA/-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.22_42delAAGAAAGAAAGAAAGGAGAGA	ENSP00000471495.1:p.Lys8_Arg14del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457784	TCTCTCTCTTTCTTTCTT	ENSG00000269064	ENST00000600581	Transcript	inframe_deletion	22-42	22-42	8-14	KKERKER/KKERER	AAGAAAGAAAGAAAGGAGAGA/AAGAAAGAAAGAGAGAGA	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.22_42delAAGAAAGAAAGAAAGGAGAGAinsAAGAAAGAAAGAGAGAGA	ENSP00000471495.1:p.Lys12del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457784	TCTCTCTTTCTTTCTTTCTTTCTT	ENSG00000269064	ENST00000600581	Transcript	inframe_insertion	22-42	22-42	8-14	KKERKER/KKERKKER	AAGAAAGAAAGAAAGGAGAGA/AAGAAAGAAAGAAAGAAAGAGAGA	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.22_42delAAGAAAGAAAGAAAGGAGAGAinsAAGAAAGAAAGAAAGAAAGAGAGA	ENSP00000471495.1:p.Lys12dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457784	-	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2909_*267-2889delTCTCTCCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457784	TCTCTCTCTTTCTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2909_*267-2889delTCTCTCCTTTCTTTCTTTCTTinsTCTCTCTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457784	TCTCTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2909_*267-2889delTCTCTCCTTTCTTTCTTTCTTinsTCTCTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457785	TCTTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2909_1894-2888delTCTCTCCTTTCTTTCTTTCTTTinsTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457785	TCTCTC	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2909_1894-2888delTCTCTCCTTTCTTTCTTTCTTTinsTCTCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457785	TCTTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2909_2092-2888delTCTCTCCTTTCTTTCTTTCTTTinsTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457785	TCTCTC	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2909_2092-2888delTCTCTCCTTTCTTTCTTTCTTTinsTCTCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457785	TCTTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3053	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457785	TCTCTC	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3053	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457785	TCTTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2909_*267-2888delTCTCTCCTTTCTTTCTTTCTTTinsTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457785	TCTCTC	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2909_*267-2888delTCTCTCCTTTCTTTCTTTCTTTinsTCTCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457785	TCTTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	21-42	21-42	7-14	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.21_42delAAAGAAAGAAAGAAAGGAGAGAinsAAAGA	ENSP00000471495.1:p.Lys9ArgfsTer12	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457785	TCTCTC	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	21-42	21-42	7-14	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.21_42delAAAGAAAGAAAGAAAGGAGAGAinsGAGAGA	ENSP00000471495.1:p.Lys8ArgfsTer26	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457785	TCTTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2909_*267-2888delTCTCTCCTTTCTTTCTTTCTTTinsTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457785	TCTCTC	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2909_*267-2888delTCTCTCCTTTCTTTCTTTCTTTinsTCTCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457788	-	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2909_1894-2885delTCTCTCCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457788	TCTCTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2909_1894-2885delTCTCTCCTTTCTTTCTTTCTTTCTTinsTCTCTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457788	-	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2909_2092-2885delTCTCTCCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457788	TCTCTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2909_2092-2885delTCTCTCCTTTCTTTCTTTCTTTCTTinsTCTCTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457788	-	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3050	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457788	TCTCTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3050	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457788	-	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2909_*267-2885delTCTCTCCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457788	TCTCTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2909_*267-2885delTCTCTCCTTTCTTTCTTTCTTTCTTinsTCTCTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457788	-	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	18-42	18-42	6-14	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.18_42delAAGAAAGAAAGAAAGAAAGGAGAGA	ENSP00000471495.1:p.Lys8GlufsTer23	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457788	TCTCTCTTTCTTTCTTTCTTTCTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	18-42	18-42	6-14	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.18_42delAAGAAAGAAAGAAAGAAAGGAGAGAinsAAGAAAGAAAGAAAGAAAGAGAGA	ENSP00000471495.1:p.Glu13ArgfsTer26	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457788	-	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2909_*267-2885delTCTCTCCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457763-179457788	TCTCTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2909_*267-2885delTCTCTCCTTTCTTTCTTTCTTTCTTinsTCTCTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457764-179457784	C	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2908_1894-2889delCTCTCCTTTCTTTCTTTCTTinsC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457764-179457784	TCTCCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2908_1894-2889delCTCTCCTTTCTTTCTTTCTTinsTCTCCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457764-179457784	C	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2908_2092-2889delCTCTCCTTTCTTTCTTTCTTinsC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457764-179457784	TCTCCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2908_2092-2889delCTCTCCTTTCTTTCTTTCTTinsTCTCCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457764-179457784	C	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3054	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457764-179457784	TCTCCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3054	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457764-179457784	C	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2908_*267-2889delCTCTCCTTTCTTTCTTTCTTinsC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457764-179457784	TCTCCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2908_*267-2889delCTCTCCTTTCTTTCTTTCTTinsTCTCCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457764-179457784	C	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	22-41	22-41	8-14	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.22_41delAAGAAAGAAAGAAAGGAGAGinsG	ENSP00000471495.1:p.Lys8GlufsTer25	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457764-179457784	TCTCCTTTCTTTCTTTCTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	22-41	22-41	8-14	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.22_41delAAGAAAGAAAGAAAGGAGAGinsAAGAAAGAAAGAAAGGAGA	ENSP00000471495.1:p.Arg14LysfsTer25	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457764-179457784	C	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2908_*267-2889delCTCTCCTTTCTTTCTTTCTTinsC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457764-179457784	TCTCCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2908_*267-2889delCTCTCCTTTCTTTCTTTCTTinsTCTCCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457765-179457784	-	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2907_1894-2889delTCTCCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457765-179457784	TCTCTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2907_1894-2889delTCTCCTTTCTTTCTTTCTTinsTCTCTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457765-179457784	-	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2907_2092-2889delTCTCCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457765-179457784	TCTCTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2907_2092-2889delTCTCCTTTCTTTCTTTCTTinsTCTCTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457765-179457784	-	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3054	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457765-179457784	TCTCTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3054	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457765-179457784	-	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2907_*267-2889delTCTCCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457765-179457784	TCTCTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2907_*267-2889delTCTCCTTTCTTTCTTTCTTinsTCTCTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457765-179457784	-	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	22-40	22-40	8-14	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.22_40delAAGAAAGAAAGAAAGGAGA	ENSP00000471495.1:p.Lys8GlufsTer25	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457765-179457784	TCTCTCTTTCTTTCTTTCTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_elongation	22-40	22-40	8-14	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.22_40delAAGAAAGAAAGAAAGGAGAinsAAGAAAGAAAGAAAGAGAGA	ENSP00000471495.1:p.Glu13ArgfsTer14	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457765-179457784	-	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2907_*267-2889delTCTCCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457765-179457784	TCTCTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2907_*267-2889delTCTCCTTTCTTTCTTTCTTinsTCTCTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457766-179457772	CTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2906_1894-2901delCTCCTTinsCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457766-179457772	CTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2906_1894-2901delCTCCTTinsCTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457766-179457772	CTCTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2906_1894-2901delCTCCTTinsCTCTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457766-179457772	CTC	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2906_1894-2901delCTCCTTinsCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457766-179457772	CTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2906_2092-2901delCTCCTTinsCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457766-179457772	CTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2906_2092-2901delCTCCTTinsCTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457766-179457772	CTCTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2906_2092-2901delCTCCTTinsCTCTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457766-179457772	CTC	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2906_2092-2901delCTCCTTinsCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457766-179457772	CTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3066	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457766-179457772	CTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3066	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457766-179457772	CTCTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3066	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457766-179457772	CTC	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3066	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457766-179457772	CTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2906_*267-2901delCTCCTTinsCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457766-179457772	CTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2906_*267-2901delCTCCTTinsCTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457766-179457772	CTCTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2906_*267-2901delCTCCTTinsCTCTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457766-179457772	CTC	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2906_*267-2901delCTCCTTinsCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457766-179457772	CTT	ENSG00000269064	ENST00000600581	Transcript	inframe_deletion	34-39	34-39	12-13	KE/K	AAGGAG/AAG	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.34_39delAAGGAGinsAAG	ENSP00000471495.1:p.Glu13del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457766-179457772	CTCTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	34-39	34-39	12-13	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.34_39delAAGGAGinsAAGAG	ENSP00000471495.1:p.Glu13ArgfsTer26	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457766-179457772	CTCTCTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_elongation	34-39	34-39	12-13	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.34_39delAAGGAGinsAAGAGAG	ENSP00000471495.1:p.Glu13ArgfsTer14	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457766-179457772	CTC	ENSG00000269064	ENST00000600581	Transcript	inframe_deletion	34-39	34-39	12-13	KE/E	AAGGAG/GAG	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.34_39delAAGGAGinsGAG	ENSP00000471495.1:p.Lys12del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457766-179457772	CTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2906_*267-2901delCTCCTTinsCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457766-179457772	CTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2906_*267-2901delCTCCTTinsCTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457766-179457772	CTCTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2906_*267-2901delCTCCTTinsCTCTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457766-179457772	CTC	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2906_*267-2901delCTCCTTinsCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457767-179457776	-	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2905_1894-2897delTCCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457767-179457776	TCTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2905_1894-2897delTCCTTTCTTinsTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457767-179457776	-	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2905_2092-2897delTCCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457767-179457776	TCTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2905_2092-2897delTCCTTTCTTinsTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457767-179457776	-	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3062	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457767-179457776	TCTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3062	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457767-179457776	-	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2905_*267-2897delTCCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457767-179457776	TCTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2905_*267-2897delTCCTTTCTTinsTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457767-179457776	-	ENSG00000269064	ENST00000600581	Transcript	inframe_deletion	30-38	30-38	10-13	ERKE/E	gaAAGAAAGGAg/gag	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.30_38delAAGAAAGGA	ENSP00000471495.1:p.Arg11_Glu13del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457767-179457776	TCTTTCTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	30-38	30-38	10-13	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.30_38delAAGAAAGGAinsAAGAAAGA	ENSP00000471495.1:p.Glu13ArgfsTer26	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457767-179457776	-	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2905_*267-2897delTCCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457767-179457776	TCTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2905_*267-2897delTCCTTTCTTinsTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457767-179457792	-	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2905_1894-2881delTCCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457767-179457792	-	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2905_2092-2881delTCCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457767-179457792	-	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3046	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457767-179457792	-	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2905_*267-2881delTCCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457767-179457792	-	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	14-38	14-38	5-13	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.14_38delAAGAAAGAAAGAAAGAAAGAAAGGA	ENSP00000471495.1:p.Lys5ArgfsTer26	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457767-179457792	-	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2905_*267-2881delTCCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2904_1894-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2904_1894-2885delCCTTTCTTTCTTTCTTTCTTinsCTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	TCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2904_1894-2885delCCTTTCTTTCTTTCTTTCTTinsTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTCTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2904_1894-2885delCCTTTCTTTCTTTCTTTCTTinsCTCTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2904_1894-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2904_1894-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTTCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2904_1894-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2904_1894-2885delCCTTTCTTTCTTTCTTTCTTinsCTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	C	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2904_1894-2885delCCTTTCTTTCTTTCTTTCTTinsC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2904_1894-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2904_2092-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2904_2092-2885delCCTTTCTTTCTTTCTTTCTTinsCTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	TCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2904_2092-2885delCCTTTCTTTCTTTCTTTCTTinsTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTCTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2904_2092-2885delCCTTTCTTTCTTTCTTTCTTinsCTCTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2904_2092-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2904_2092-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTTCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2904_2092-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2904_2092-2885delCCTTTCTTTCTTTCTTTCTTinsCTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	C	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2904_2092-2885delCCTTTCTTTCTTTCTTTCTTinsC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2904_2092-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3050	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3050	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	TCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3050	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTCTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3050	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3050	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3050	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3050	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3050	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	C	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3050	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3050	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsCTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	TCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTCTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsCTCTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTTCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsCTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	C	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTCTTTCTTTCTTTCTTTCTT	ENSG00000269064	ENST00000600581	Transcript	inframe_insertion	18-37	18-37	6-13	ERKKERKE/ERKKERKKE	gaAAGAAAGAAAGAAAGAAAGGag/gaAAGAAAGAAAGAAAGAAAGAAAGag	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.18_37delAAGAAAGAAAGAAAGAAAGGinsAAGAAAGAAAGAAAGAAAGAAAG	ENSP00000471495.1:p.Lys12dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTCTTTCTTTCTTTCTT	ENSG00000269064	ENST00000600581	Transcript	inframe_deletion	18-37	18-37	6-13	ERKKERKE/ERKKERE	gaAAGAAAGAAAGAAAGAAAGGag/gaAAGAAAGAAAGAAAGAGag	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.18_37delAAGAAAGAAAGAAAGAAAGGinsAAGAAAGAAAGAAAGAG	ENSP00000471495.1:p.Lys12del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	TCTTTCTTTCTTTCTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	18-37	18-37	6-13	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.18_37delAAGAAAGAAAGAAAGAAAGGinsAAGAAAGAAAGAAAGA	ENSP00000471495.1:p.Lys12ArgfsTer26	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTCTCTTTCTTTCTTTCTTTCTT	ENSG00000269064	ENST00000600581	Transcript	inframe_insertion	18-37	18-37	6-13	ERKKERKE/ERKKERKRE	gaAAGAAAGAAAGAAAGAAAGGag/gaAAGAAAGAAAGAAAGAAAGAGAGag	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.18_37delAAGAAAGAAAGAAAGAAAGGinsAAGAAAGAAAGAAAGAAAGAGAG	ENSP00000471495.1:p.Lys12_Glu13insArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000269064	ENST00000600581	Transcript	inframe_insertion	18-37	18-37	6-13	ERKKERKE/ERKKERKKERKE	gaAAGAAAGAAAGAAAGAAAGGag/gaAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGag	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.18_37delAAGAAAGAAAGAAAGAAAGGinsAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAG	ENSP00000471495.1:p.Lys9_Lys12dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_elongation	18-37	18-37	6-13	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.18_37delAAGAAAGAAAGAAAGAAAGGinsAAGAAAGAAAGAAAGAAAGAAAGAAAAG	ENSP00000471495.1:p.Glu13LysfsTer29	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTCTTTCTTTCTTTCTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	18-37	18-37	6-13	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.18_37delAAGAAAGAAAGAAAGAAAGGinsAAGAAAGAAAGAAAGAAAG	ENSP00000471495.1:p.Glu13ArgfsTer26	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTCTTTCTTTCTTTCTTTCTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_elongation	18-37	18-37	6-13	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.18_37delAAGAAAGAAAGAAAGAAAGGinsAAGAAAGAAAGAAAGAAAGAG	ENSP00000471495.1:p.Glu13ArgfsTer14	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	C	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	18-37	18-37	6-13	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.18_37delAAGAAAGAAAGAAAGAAAGGinsG	ENSP00000471495.1:p.Lys8GlufsTer25	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_elongation	18-37	18-37	6-13	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.18_37delAAGAAAGAAAGAAAGAAAGGinsAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAG	ENSP00000471495.1:p.Glu13LysfsTer25	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsCTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	TCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTCTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsCTCTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTTCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsCTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	C	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTCTCTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2904_1894-2885delCCTTTCTTTCTTTCTTTCTTinsCTCTCTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2904_1894-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2904_1894-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTC	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2904_1894-2885delCCTTTCTTTCTTTCTTTCTTinsCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2904_1894-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2904_1894-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2904_1894-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTCTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2904_1894-2885delCCTTTCTTTCTTTCTTTCTTinsCTCTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTCTCTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2904_2092-2885delCCTTTCTTTCTTTCTTTCTTinsCTCTCTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2904_2092-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2904_2092-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTC	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2904_2092-2885delCCTTTCTTTCTTTCTTTCTTinsCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2904_2092-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2904_2092-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2904_2092-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTCTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2904_2092-2885delCCTTTCTTTCTTTCTTTCTTinsCTCTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTCTCTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3050	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3050	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3050	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTC	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3050	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3050	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3050	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3050	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTCTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3050	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTCTCTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsCTCTCTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTC	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTCTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsCTCTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTCTCTCTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	18-37	18-37	6-13	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.18_37delAAGAAAGAAAGAAAGAAAGGinsAAGAGAGAG	ENSP00000471495.1:p.Lys8GlufsTer15	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_elongation	18-37	18-37	6-13	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.18_37delAAGAAAGAAAGAAAGAAAGGinsAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAG	ENSP00000471495.1:p.Glu13ArgfsTer21	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	18-37	18-37	6-13	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.18_37delAAGAAAGAAAGAAAGAAAGGinsAAGAAAGAAAAG	ENSP00000471495.1:p.Glu10ArgfsTer14	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTC	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	18-37	18-37	6-13	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.18_37delAAGAAAGAAAGAAAGAAAGGinsGAG	ENSP00000471495.1:p.Lys8GlufsTer13	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTT	ENSG00000269064	ENST00000600581	Transcript	feature_truncation	18-37	18-37	6-13	ERKKERKE/ERKE	gaAAGAAAGAAAGAAAGAAAGGag/gaAAGAAAAGag	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.18_37delAAGAAAGAAAGAAAGAAAGGinsAAGAAAAG	ENSP00000471495.1:p.Lys9_Lys12del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTCTTTCTTTCTTTCTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	18-37	18-37	6-13	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.18_37delAAGAAAGAAAGAAAGAAAGGinsAAGAAAGAAAGAAAGAAAG	ENSP00000471495.1:p.Glu13ArgfsTer26	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTT	ENSG00000269064	ENST00000600581	Transcript	inframe_insertion	18-37	18-37	6-13	ERKKERKE/ERKKEKERKKERKE	gaAAGAAAGAAAGAAAGAAAGGag/gaAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAGag	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.18_37delAAGAAAGAAAGAAAGAAAGGinsAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAG	ENSP00000471495.1:p.Lys5_Glu10dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTCTCTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	18-37	18-37	6-13	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.18_37delAAGAAAGAAAGAAAGAAAGGinsAAGAGAG	ENSP00000471495.1:p.Lys8GlufsTer27	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTCTCTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsCTCTCTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTC	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsCTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457768-179457788	CTCTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2904_*267-2885delCCTTTCTTTCTTTCTTTCTTinsCTCTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457770	TTTC	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs12737798	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903delCinsTTTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457770	TTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs12737798	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903delCinsTTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457770	TTTC	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs12737798	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903delCinsTTTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457770	TTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs12737798	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903delCinsTTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457770	TTTC	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	rs12737798	3068	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457770	TTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	rs12737798	3068	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457770	TTTC	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	rs12737798	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903delCinsTTTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457770	TTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	rs12737798	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903delCinsTTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457770	TTTC	ENSG00000269064	ENST00000600581	Transcript	inframe_insertion	36	36	12	K/KK	aaG/aaGAAA	rs12737798	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.36delGinsGAAA	ENSP00000471495.1:p.Lys12dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457770	TTTTCTTTCTTTCTTTCTTTCTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_elongation	36	36	12	-	-	rs12737798	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.36delGinsAAGAAAGAAAGAAAGAAAGAAAA	ENSP00000471495.1:p.Glu13ArgfsTer21	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457770	TTTC	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs12737798	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903delCinsTTTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457770	TTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs12737798	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903delCinsTTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	CTTTCTTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs376189496	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2904_1894-2903insCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	CTTTCTTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs376189496	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2904_2092-2903insCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	CTTTCTTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	rs376189496	3068	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	CTTTCTTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	rs376189496	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2904_*267-2903insCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	CTTTCTTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_elongation	36-37	36-37	12-13	-	-	rs376189496	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.29_36dupAAAGAAAG	ENSP00000471495.1:p.Glu13LysfsTer29	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	CTTTCTTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs376189496	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2904_*267-2903insCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457770	TTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs12737798	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903delCinsTTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457770	TTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs12737798	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903delCinsTTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457770	TTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	rs12737798	3068	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457770	TTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	rs12737798	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903delCinsTTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457770	TTTTCTTTCTTTCTTTCTTTCTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_elongation	36	36	12	-	-	rs12737798	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.36delGinsAAGAAAGAAAGAAAGAAAGAAAA	ENSP00000471495.1:p.Glu13ArgfsTer21	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457770	TTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs12737798	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903delCinsTTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457771	-	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2902delCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457771	-	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2902delCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457771	-	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3067	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457771	-	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2902delCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457771	-	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	35-36	35-36	12	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.35_36delAG	ENSP00000471495.1:p.Lys12ArgfsTer14	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457771	-	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2902delCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457772	-	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2901delCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457772	-	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2901delCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457772	-	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3066	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457772	-	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2901delCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457772	-	ENSG00000269064	ENST00000600581	Transcript	inframe_deletion	34-36	34-36	12	K/-	AAG/-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.34_36delAAG	ENSP00000471495.1:p.Lys12del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457772	-	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2901delCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457772	-	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2901delCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457772	TCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2901delCTTinsTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457772	TTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2901delCTTinsTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457772	TCTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2901delCTTinsTCTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457772	-	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2901delCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457772	TCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2901delCTTinsTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457772	TTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2901delCTTinsTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457772	TCTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2901delCTTinsTCTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457772	-	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3066	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457772	TCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3066	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457772	TTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3066	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457772	TCTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3066	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457772	-	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2901delCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457772	TCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2901delCTTinsTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457772	TTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2901delCTTinsTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457772	TCTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2901delCTTinsTCTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457772	-	ENSG00000269064	ENST00000600581	Transcript	inframe_deletion	34-36	34-36	12	K/-	AAG/-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.34_36delAAG	ENSP00000471495.1:p.Lys12del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457772	TCTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_elongation	34-36	34-36	12	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.34_36delAAGinsAAGA	ENSP00000471495.1:p.Glu13ArgfsTer14	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457772	TTCTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_elongation	34-36	34-36	12	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.34_36delAAGinsAAGAA	ENSP00000471495.1:p.Glu13LysfsTer27	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457772	TCTCTT	ENSG00000269064	ENST00000600581	Transcript	inframe_insertion	34-36	34-36	12	K/KR	AAG/AAGAGA	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.34_36delAAGinsAAGAGA	ENSP00000471495.1:p.Lys12_Glu13insArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457772	-	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2901delCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457772	TCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2901delCTTinsTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457772	TTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2901delCTTinsTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457772	TCTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2901delCTTinsTCTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457774	TTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2899delCTTTCinsTTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457774	TTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2899delCTTTCinsTTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457774	TTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3064	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457774	TTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2899delCTTTCinsTTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457774	TTTTCTTTCTTTCTTTCTTTCTT	ENSG00000269064	ENST00000600581	Transcript	inframe_insertion	32-36	32-36	11-12	RK/KERKKERK	aGAAAG/aAAGAAAGAAAGAAAGAAAGAAAA	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.32_36delGAAAGinsAAGAAAGAAAGAAAGAAAGAAAA	ENSP00000471495.1:p.Lys5_Glu10dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457774	TTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2899delCTTTCinsTTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457777	-	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2896delCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457777	-	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2896delCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457777	-	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3061	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457777	-	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2896delCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457777	-	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	29-36	29-36	10-12	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.29_36delAAAGAAAG	ENSP00000471495.1:p.Glu10GlyfsTer14	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457777	-	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2896delCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457778	T	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2895delCTTTCTTTCinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457778	T	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2895delCTTTCTTTCinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457778	T	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3060	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457778	T	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2895delCTTTCTTTCinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457778	T	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	28-36	28-36	10-12	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.28_36delGAAAGAAAGinsA	ENSP00000471495.1:p.Glu10ArgfsTer14	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457778	T	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2895delCTTTCTTTCinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457780	TCTC	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2893delCTTTCTTTCTTinsTCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457780	TCTC	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2893delCTTTCTTTCTTinsTCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457780	TCTC	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3058	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457780	TCTC	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2893delCTTTCTTTCTTinsTCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457780	TCTC	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	26-36	26-36	9-12	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.26_36delAAGAAAGAAAGinsGAGA	ENSP00000471495.1:p.Lys9ArgfsTer28	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457780	TCTC	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2893delCTTTCTTTCTTinsTCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457782	T	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2891delCTTTCTTTCTTTCinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457782	T	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2891delCTTTCTTTCTTTCinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457782	T	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3056	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457782	T	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2891delCTTTCTTTCTTTCinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457782	T	ENSG00000269064	ENST00000600581	Transcript	feature_truncation	24-36	24-36	8-12	KKERK/K	aaGAAAGAAAGAAAG/aaA	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.24_36delGAAAGAAAGAAAGinsA	ENSP00000471495.1:p.Lys9_Lys12del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457782	T	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2891delCTTTCTTTCTTTCinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457781	-	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2892delCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457781	-	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2892delCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457781	-	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3057	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457781	-	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2892delCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457781	-	ENSG00000269064	ENST00000600581	Transcript	inframe_deletion	25-36	25-36	9-12	KERK/-	AAAGAAAGAAAG/-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.25_36delAAAGAAAGAAAG	ENSP00000471495.1:p.Lys9_Lys12del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457781	-	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2892delCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457784	TC	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2889delCTTTCTTTCTTTCTTinsTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457784	TC	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2889delCTTTCTTTCTTTCTTinsTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457784	TC	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3054	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457784	TC	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2889delCTTTCTTTCTTTCTTinsTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457784	TC	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	22-36	22-36	8-12	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.22_36delAAGAAAGAAAGAAAGinsGA	ENSP00000471495.1:p.Lys8GlufsTer27	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457784	TC	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2889delCTTTCTTTCTTTCTTinsTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457784	TCTC	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2889delCTTTCTTTCTTTCTTinsTCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457784	TC	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2889delCTTTCTTTCTTTCTTinsTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457784	TCTTTCTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2889delCTTTCTTTCTTTCTTinsTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457784	TCTC	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2889delCTTTCTTTCTTTCTTinsTCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457784	TC	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2889delCTTTCTTTCTTTCTTinsTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457784	TCTTTCTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2889delCTTTCTTTCTTTCTTinsTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457784	TCTC	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3054	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457784	TC	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3054	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457784	TCTTTCTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3054	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457784	TCTC	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2889delCTTTCTTTCTTTCTTinsTCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457784	TC	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2889delCTTTCTTTCTTTCTTinsTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457784	TCTTTCTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2889delCTTTCTTTCTTTCTTinsTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457784	TCTC	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	22-36	22-36	8-12	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.22_36delAAGAAAGAAAGAAAGinsGAGA	ENSP00000471495.1:p.Lys8GlufsTer15	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457784	TC	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	22-36	22-36	8-12	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.22_36delAAGAAAGAAAGAAAGinsGA	ENSP00000471495.1:p.Lys8GlufsTer27	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457784	TCTTTCTTTCTT	ENSG00000269064	ENST00000600581	Transcript	inframe_deletion	22-36	22-36	8-12	KKERK/KKER	AAGAAAGAAAGAAAG/AAGAAAGAAAGA	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.22_36delAAGAAAGAAAGAAAGinsAAGAAAGAAAGA	ENSP00000471495.1:p.Lys12del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457784	TCTC	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2889delCTTTCTTTCTTTCTTinsTCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457784	TC	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2889delCTTTCTTTCTTTCTTinsTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457784	TCTTTCTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2889delCTTTCTTTCTTTCTTinsTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457785	-	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2888delCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457785	-	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2888delCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457785	-	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3053	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457785	-	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2888delCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457785	-	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	21-36	21-36	7-12	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.21_36delAAAGAAAGAAAGAAAG	ENSP00000471495.1:p.Lys8ArgfsTer26	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457785	-	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2888delCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457786	T	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2887delCTTTCTTTCTTTCTTTCinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457786	T	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2887delCTTTCTTTCTTTCTTTCinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457786	T	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3052	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457786	T	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2887delCTTTCTTTCTTTCTTTCinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457786	T	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	20-36	20-36	7-12	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.20_36delGAAAGAAAGAAAGAAAGinsA	ENSP00000471495.1:p.Arg7LysfsTer27	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457786	T	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2887delCTTTCTTTCTTTCTTTCinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457788	-	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2885delCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457788	-	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2885delCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457788	-	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3050	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457788	-	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2885delCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457788	-	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	18-36	18-36	6-12	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.18_36delAAGAAAGAAAGAAAGAAAG	ENSP00000471495.1:p.Lys8GlufsTer25	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457788	-	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2885delCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457792	-	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2881delCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457792	-	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2881delCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457792	-	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3046	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457792	-	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2881delCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457792	-	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	14-36	14-36	5-12	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.14_36delAAGAAAGAAAGAAAGAAAGAAAG	ENSP00000471495.1:p.Lys5ArgfsTer14	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457792	-	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2881delCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457792	TCTC	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2881delCTTTCTTTCTTTCTTTCTTTCTTinsTCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457792	TCTC	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2881delCTTTCTTTCTTTCTTTCTTTCTTinsTCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457792	TCTC	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3046	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457792	TCTC	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2881delCTTTCTTTCTTTCTTTCTTTCTTinsTCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457792	TCTC	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	14-36	14-36	5-12	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.14_36delAAGAAAGAAAGAAAGAAAGAAAGinsGAGA	ENSP00000471495.1:p.Lys5ArgfsTer28	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457792	TCTC	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2881delCTTTCTTTCTTTCTTTCTTTCTTinsTCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457792	TCTCTCTC	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2881delCTTTCTTTCTTTCTTTCTTTCTTinsTCTCTCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457792	TCTCTCTC	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2881delCTTTCTTTCTTTCTTTCTTTCTTinsTCTCTCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457792	TCTCTCTC	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3046	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457792	TCTCTCTC	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2881delCTTTCTTTCTTTCTTTCTTTCTTinsTCTCTCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457792	TCTCTCTC	ENSG00000269064	ENST00000600581	Transcript	feature_truncation	14-36	14-36	5-12	KERKKERK/RER	aAAGAAAGAAAGAAAGAAAGAAAG/aGAGAGAGA	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.14_36delAAGAAAGAAAGAAAGAAAGAAAGinsGAGAGAGA	ENSP00000471495.1:p.Lys5_Lys12delinsArgGluArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457792	TCTCTCTC	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2881delCTTTCTTTCTTTCTTTCTTTCTTinsTCTCTCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	-	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	-	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	-	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3042	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	-	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	-	ENSG00000269064	ENST00000600581	Transcript	inframe_deletion	10-36	10-36	4-12	KKERKKERK/-	AAGAAAGAAAGAAAGAAAGAAAGAAAG/-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.10_36delAAGAAAGAAAGAAAGAAAGAAAGAAAG	ENSP00000471495.1:p.Lys4_Lys12del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	-	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TC	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TC	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TC	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3042	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TC	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TC	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	10-36	10-36	4-12	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.10_36delAAGAAAGAAAGAAAGAAAGAAAGAAAGinsGA	ENSP00000471495.1:p.Lys4GlufsTer27	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TC	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTC	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTC	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTC	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3042	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTC	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTC	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	10-36	10-36	4-12	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.10_36delAAGAAAGAAAGAAAGAAAGAAAGAAAGinsGAGA	ENSP00000471495.1:p.Lys4GlufsTer15	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTC	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTC	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTCTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTCTCTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TTTTCTTTCTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTCTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTCTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TTTTCTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTCTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTCTCTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	CTTTCTTTCTTTCTTTCTTTCTTTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsCTTTCTTTCTTTCTTTCTTTCTTTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTTTCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTCTTTCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTC	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTCTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTCTCTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TTTTCTTTCTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTCTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTCTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TTTTCTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTCTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTCTCTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	CTTTCTTTCTTTCTTTCTTTCTTTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsCTTTCTTTCTTTCTTTCTTTCTTTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTTTCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTCTTTCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTC	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3042	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTCTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3042	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3042	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TTTTCTTTCTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3042	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTCTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3042	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TTTTCTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3042	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3042	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3042	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTCTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3042	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	CTTTCTTTCTTTCTTTCTTTCTTTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3042	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTTTCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3042	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3042	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTC	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTCTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTCTCTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TTTTCTTTCTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTCTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTCTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TTTTCTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTCTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTCTCTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	CTTTCTTTCTTTCTTTCTTTCTTTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsCTTTCTTTCTTTCTTTCTTTCTTTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTTTCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTCTTTCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTC	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	10-36	10-36	4-12	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.10_36delAAGAAAGAAAGAAAGAAAGAAAGAAAGinsGAGA	ENSP00000471495.1:p.Lys4GlufsTer15	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTCTCTTTCTTTCTTTCTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	10-36	10-36	4-12	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.10_36delAAGAAAGAAAGAAAGAAAGAAAGAAAGinsAAGAAAGAAAGAAAGAGAGA	ENSP00000471495.1:p.Lys9ArgfsTer28	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000269064	ENST00000600581	Transcript	inframe_deletion	10-36	10-36	4-12	KKERKKERK/KKERKKER	AAGAAAGAAAGAAAGAAAGAAAGAAAG/AAGAAAGAAAGAAAGAAAGAAAGA	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.10_36delAAGAAAGAAAGAAAGAAAGAAAGAAAGinsAAGAAAGAAAGAAAGAAAGAAAGA	ENSP00000471495.1:p.Lys12del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TTTTCTTTCTTTCTT	ENSG00000269064	ENST00000600581	Transcript	feature_truncation	10-36	10-36	4-12	KKERKKERK/KKERK	AAGAAAGAAAGAAAGAAAGAAAGAAAG/AAGAAAGAAAGAAAA	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.10_36delAAGAAAGAAAGAAAGAAAGAAAGAAAGinsAAGAAAGAAAGAAAA	ENSP00000471495.1:p.Lys9_Lys12del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTCTTTCTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	10-36	10-36	4-12	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.10_36delAAGAAAGAAAGAAAGAAAGAAAGAAAGinsAAGAAAGAGA	ENSP00000471495.1:p.Lys8GlufsTer13	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TTTTCTTTCTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	10-36	10-36	4-12	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.10_36delAAGAAAGAAAGAAAGAAAGAAAGAAAGinsAAGAAAGAAAA	ENSP00000471495.1:p.Arg7LysfsTer27	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TTTTCTTTCTTTCTTTCTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	10-36	10-36	4-12	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.10_36delAAGAAAGAAAGAAAGAAAGAAAGAAAGinsAAGAAAGAAAGAAAGAAAA	ENSP00000471495.1:p.Glu10ArgfsTer14	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_elongation	10-36	10-36	4-12	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.10_36delAAGAAAGAAAGAAAGAAAGAAAGAAAGinsAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAA	ENSP00000471495.1:p.Glu13ArgfsTer21	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTCTCTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	10-36	10-36	4-12	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.10_36delAAGAAAGAAAGAAAGAAAGAAAGAAAGinsAAGAGAGA	ENSP00000471495.1:p.Lys5ArgfsTer28	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	CTTTCTTTCTTTCTTTCTTTCTTTTTCTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_elongation	10-36	10-36	4-12	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.10_36delAAGAAAGAAAGAAAGAAAGAAAGAAAGinsAAGAAAAAGAAAGAAAGAAAGAAAGAAAG	ENSP00000471495.1:p.Glu6LysfsTer34	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTTTCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_elongation	10-36	10-36	4-12	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.10_36delAAGAAAGAAAGAAAGAAAGAAAGAAAGinsAAGAAAGAAAGAAAGAAAGAAAGAAAGA	ENSP00000471495.1:p.Glu13ArgfsTer14	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTT	ENSG00000269064	ENST00000600581	Transcript	inframe_insertion	10-36	10-36	4-12	KKERKKERK/KKERKKEKERKKERK	AAGAAAGAAAGAAAGAAAGAAAGAAAG/AAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAA	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.10_36delAAGAAAGAAAGAAAGAAAGAAAGAAAGinsAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAA	ENSP00000471495.1:p.Lys5_Glu10dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTC	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTCTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTCTCTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TTTTCTTTCTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTCTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTCTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TTTTCTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTCTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTCTCTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	CTTTCTTTCTTTCTTTCTTTCTTTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsCTTTCTTTCTTTCTTTCTTTCTTTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TCTTTCTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTCTTTCTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457796	TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2877delCTTTCTTTCTTTCTTTCTTTCTTTCTTinsTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2884delCTTTCTTTCTTTCTTTCTTTinsTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2884delCTTTCTTTCTTTCTTTCTTTinsTCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TCTTTCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2884delCTTTCTTTCTTTCTTTCTTTinsTCTTTCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	CTTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2884delCTTTCTTTCTTTCTTTCTTTinsCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2884delCTTTCTTTCTTTCTTTCTTTinsTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	-	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2884delCTTTCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	CTTCTCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2884delCTTTCTTTCTTTCTTTCTTTinsCTTCTCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TTTCTTTCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2884delCTTTCTTTCTTTCTTTCTTTinsTTTCTTTCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TTTTCTTTCTTTCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2903_1894-2884delCTTTCTTTCTTTCTTTCTTTinsTTTTCTTTCTTTCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2884delCTTTCTTTCTTTCTTTCTTTinsTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2884delCTTTCTTTCTTTCTTTCTTTinsTCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TCTTTCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2884delCTTTCTTTCTTTCTTTCTTTinsTCTTTCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	CTTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2884delCTTTCTTTCTTTCTTTCTTTinsCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2884delCTTTCTTTCTTTCTTTCTTTinsTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	-	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2884delCTTTCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	CTTCTCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2884delCTTTCTTTCTTTCTTTCTTTinsCTTCTCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TTTCTTTCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2884delCTTTCTTTCTTTCTTTCTTTinsTTTCTTTCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TTTTCTTTCTTTCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2903_2092-2884delCTTTCTTTCTTTCTTTCTTTinsTTTTCTTTCTTTCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3049	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3049	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TCTTTCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3049	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	CTTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3049	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3049	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	-	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3049	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	CTTCTCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3049	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TTTCTTTCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3049	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TTTTCTTTCTTTCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	-	3049	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2884delCTTTCTTTCTTTCTTTCTTTinsTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2884delCTTTCTTTCTTTCTTTCTTTinsTCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TCTTTCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2884delCTTTCTTTCTTTCTTTCTTTinsTCTTTCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	CTTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2884delCTTTCTTTCTTTCTTTCTTTinsCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2884delCTTTCTTTCTTTCTTTCTTTinsTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	-	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2884delCTTTCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	CTTCTCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2884delCTTTCTTTCTTTCTTTCTTTinsCTTCTCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TTTCTTTCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2884delCTTTCTTTCTTTCTTTCTTTinsTTTCTTTCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TTTTCTTTCTTTCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2903_*267-2884delCTTTCTTTCTTTCTTTCTTTinsTTTTCTTTCTTTCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTT	ENSG00000269064	ENST00000600581	Transcript	inframe_insertion	17-36	17-36	6-12	ERKKERK/ERKKERKKEKERKKERK	gAAAGAAAGAAAGAAAGAAAG/gAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAA	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.17_36delAAAGAAAGAAAGAAAGAAAGinsAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAA	ENSP00000471495.1:p.Lys12_Glu13insLysGluLysGluArgLysLysGluArgLys	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TCTTTCTTTCTTTCTTT	ENSG00000269064	ENST00000600581	Transcript	inframe_deletion	17-36	17-36	6-12	ERKKERK/ERKKER	gAAAGAAAGAAAGAAAGAAAG/gAAAGAAAGAAAGAAAGA	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.17_36delAAAGAAAGAAAGAAAGAAAGinsAAAGAAAGAAAGAAAGA	ENSP00000471495.1:p.Lys12del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TCTTTCTTTCTTTCTTTCTTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_elongation	17-36	17-36	6-12	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.17_36delAAAGAAAGAAAGAAAGAAAGinsAAAGAAAGAAAGAAAGAAAGA	ENSP00000471495.1:p.Glu13ArgfsTer14	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	CTTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	17-36	17-36	6-12	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.17_36delAAAGAAAGAAAGAAAGAAAGinsAAAG	ENSP00000471495.1:p.Lys8ArgfsTer26	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_elongation	17-36	17-36	6-12	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.17_36delAAAGAAAGAAAGAAAGAAAGinsAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAA	ENSP00000471495.1:p.Glu13LysfsTer35	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	-	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_truncation	17-36	17-36	6-12	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.17_36delAAAGAAAGAAAGAAAGAAAG	ENSP00000471495.1:p.Glu6GlyfsTer14	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	CTTCTCTTTCTTTCTTTCTTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_elongation	17-36	17-36	6-12	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.17_36delAAAGAAAGAAAGAAAGAAAGinsAAAGAAAGAAAGAAAGAGAAG	ENSP00000471495.1:p.Lys12GlufsTer15	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TTTCTTTCTTTCTTTCTTTCTTT	ENSG00000269064	ENST00000600581	Transcript	inframe_insertion	17-36	17-36	6-12	ERKKERK/ERKKERKK	gAAAGAAAGAAAGAAAGAAAG/gAAAGAAAGAAAGAAAGAAAGAAA	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.17_36delAAAGAAAGAAAGAAAGAAAGinsAAAGAAAGAAAGAAAGAAAGAAA	ENSP00000471495.1:p.Lys12dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TTTTCTTTCTTTCTTTCTTTCTTTCTTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_elongation	17-36	17-36	6-12	-	-	-	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.17_36delAAAGAAAGAAAGAAAGAAAGinsAAAGAAAGAAAGAAAGAAAGAAAGAAAA	ENSP00000471495.1:p.Glu13LysfsTer29	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2884delCTTTCTTTCTTTCTTTCTTTinsTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2884delCTTTCTTTCTTTCTTTCTTTinsTCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TCTTTCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2884delCTTTCTTTCTTTCTTTCTTTinsTCTTTCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	CTTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2884delCTTTCTTTCTTTCTTTCTTTinsCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2884delCTTTCTTTCTTTCTTTCTTTinsTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	-	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2884delCTTTCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	CTTCTCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2884delCTTTCTTTCTTTCTTTCTTTinsCTTCTCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TTTCTTTCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2884delCTTTCTTTCTTTCTTTCTTTinsTTTCTTTCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769-179457789	TTTTCTTTCTTTCTTTCTTTCTTTCTTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2903_*267-2884delCTTTCTTTCTTTCTTTCTTTinsTTTTCTTTCTTTCTTTCTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	TTTTCTTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs376189496	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2904_1894-2903insTTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	TTTTCTTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs376189496	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2904_2092-2903insTTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	TTTTCTTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	rs376189496	3068	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	TTTTCTTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	rs376189496	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2904_*267-2903insTTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	TTTTCTTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_elongation	36-37	36-37	12-13	-	-	rs376189496	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.36_37insAAAGAAAA	ENSP00000471495.1:p.Glu13LysfsTer29	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	TTTTCTTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs376189496	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2904_*267-2903insTTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	TTTTCTTTCTTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs376189496	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2904_1894-2903insTTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	TTTTCTTTCTTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs376189496	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2904_2092-2903insTTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	TTTTCTTTCTTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	rs376189496	3068	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	TTTTCTTTCTTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	rs376189496	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2904_*267-2903insTTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	TTTTCTTTCTTT	ENSG00000269064	ENST00000600581	Transcript	inframe_insertion	36-37	36-37	12-13	-/KERK	-/AAAGAAAGAAAA	rs376189496	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.36_37insAAAGAAAGAAAA	ENSP00000471495.1:p.Lys9_Lys12dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	TTTTCTTTCTTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs376189496	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2904_*267-2903insTTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	TTTTCTTTCTTTCTTTCTTTCT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs376189496	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2904_1894-2903insTTTTCTTTCTTTCTTTCTTTCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	TTTTCTTTCTTTCTTTCTTTCT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs376189496	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2904_2092-2903insTTTTCTTTCTTTCTTTCTTTCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	TTTTCTTTCTTTCTTTCTTTCT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	rs376189496	3068	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	TTTTCTTTCTTTCTTTCTTTCT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	rs376189496	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2904_*267-2903insTTTTCTTTCTTTCTTTCTTTCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	TTTTCTTTCTTTCTTTCTTTCT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_elongation	36-37	36-37	12-13	-	-	rs376189496	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.36_37insAGAAAGAAAGAAAGAAAGAAAA	ENSP00000471495.1:p.Glu13ArgfsTer21	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	TTTTCTTTCTTTCTTTCTTTCT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs376189496	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2904_*267-2903insTTTTCTTTCTTTCTTTCTTTCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT	ENSG00000162779	ENST00000434088	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs376189496	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2904_1894-2903insTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT	ENSG00000162779	ENST00000367618	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs376189496	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2904_2092-2903insTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	rs376189496	3068	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	rs376189496	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2904_*267-2903insTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT	ENSG00000269064	ENST00000600581	Transcript	frameshift_variant,feature_elongation	36-37	36-37	12-13	-	-	rs376189496	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.36_37insAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAA	ENSP00000471495.1:p.Glu13LysfsTer25	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT	ENSG00000162779	ENST00000457238	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs376189496	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2904_*267-2903insTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	T	ENSG00000162779	ENST00000434088	Transcript	intron_variant	-	-	-	-	-	rs368641478	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000434088.1:c.1894-2904C>T	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	T	ENSG00000162779	ENST00000367618	Transcript	intron_variant	-	-	-	-	-	rs368641478	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000367618.3:c.2092-2904C>T	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	T	ENSG00000162779	ENST00000484883	Transcript	upstream_gene_variant	-	-	-	-	-	rs368641478	3069	1	AXDND1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	T	ENSG00000162779	ENST00000511157	Transcript	intron_variant,NMD_transcript_variant	-	-	-	-	-	rs368641478	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*267-2904C>T	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	T	ENSG00000269064	ENST00000600581	Transcript	missense_variant	37	37	13	E/K	Gag/Aag	rs368641478	-	-1	AL160286.1	Clone_based_ensembl_gene	-	protein_coding	-	unknown(0)	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils	ENST00000600581.1:c.37G>A	ENSP00000471495.1:p.Glu13Lys	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179457769	T	ENSG00000162779	ENST00000457238	Transcript	intron_variant	-	-	-	-	-	rs368641478	-	1	AXDND1	HGNC	-	protein_coding	-	-	-	ENST00000457238.2:c.*267-2904C>T	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179504033-179504043	CAAG	ENSG00000162779	ENST00000434088	Transcript	feature_truncation	2548-2557	2548-2557	850-853	EEQQ/QE	GAAGAACAACaa/CAAGaa	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50313	ENST00000434088.1:c.2548_2557delGAAGAACAACinsCAAG	ENSP00000391716.1:p.Glu850_Gln853delinsGlnGlu	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179504033-179504043	CAAG	ENSG00000162779	ENST00000484455	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	407-416	-	-	-	-	-	-	1	AXDND1	HGNC	-	processed_transcript	-	-	-	ENST00000484455.1:n.407_416delGAAGAACAACinsCAAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179504033-179504043	CAAG	ENSG00000162779	ENST00000367618	Transcript	feature_truncation	3355-3364	2968-2977	990-993	EEQQ/QE	GAAGAACAACaa/CAAGaa	-	-	1	AXDND1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50313	ENST00000367618.3:c.2968_2977delGAAGAACAACinsCAAG	ENSP00000356590.3:p.Glu990_Gln993delinsGlnGlu	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179504033-179504043	CAAG	ENSG00000162779	ENST00000484883	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	847-856	-	-	-	-	-	-	1	AXDND1	HGNC	-	processed_transcript	-	-	-	ENST00000484883.1:n.847_856delGAAGAACAACinsCAAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:179504033-179504043	CAAG	ENSG00000162779	ENST00000511157	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_truncation	3088-3097	-	-	-	-	-	-	1	AXDND1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511157.1:c.*1237_*1246delGAAGAACAACinsCAAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:198721489-198721491	CCATTTGTTTC	ENSG00000081237	ENST00000594404	Transcript	inframe_insertion	3002-3003	2831-2832	944	R/TICF	aGA/aCCATTTGTTTC	-	-	1	PTPRC	HGNC	-	protein_coding	-	-	Pfam_domain:PF00102,PROSITE_profiles:PS50055,SMART_domains:SM00194,Superfamily_domains:SSF52799,PIRSF_domain:PIRSF002004	ENST00000594404.1:c.2831_2832delGAinsCCATTTGTTTC	ENSP00000471843.1:p.Arg944delinsThrIleCysPhe	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:198721489-198721491	CCATTTGTTTC	ENSG00000081237	ENST00000348564	Transcript	inframe_insertion	2923-2924	2837-2838	946	R/TICF	aGA/aCCATTTGTTTC	-	-	1	PTPRC	HGNC	-	protein_coding	-	-	Pfam_domain:PF00102,PROSITE_profiles:PS50055,SMART_domains:SM00194,Superfamily_domains:SSF52799,PIRSF_domain:PIRSF002004	ENST00000348564.6:c.2837_2838delGAinsCCATTTGTTTC	ENSP00000306782.7:p.Arg946delinsThrIleCysPhe	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:198721489-198721491	CCATTTGTTTC	ENSG00000081237	ENST00000352140	Transcript	inframe_insertion	3341-3342	3170-3171	1057	R/TICF	aGA/aCCATTTGTTTC	-	-	1	PTPRC	HGNC	-	protein_coding	-	-	Pfam_domain:PF00102,PROSITE_profiles:PS50055,SMART_domains:SM00194,Superfamily_domains:SSF52799,PIRSF_domain:PIRSF002004	ENST00000352140.3:c.3170_3171delGAinsCCATTTGTTTC	ENSP00000193532.3:p.Arg1057delinsThrIleCysPhe	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:198721489-198721491	CCATTTGTTTC	ENSG00000081237	ENST00000367376	Transcript	inframe_insertion	3485-3486	3314-3315	1105	R/TICF	aGA/aCCATTTGTTTC	-	-	1	PTPRC	HGNC	-	protein_coding	-	-	Pfam_domain:PF00102,PROSITE_profiles:PS50055,SMART_domains:SM00194,Superfamily_domains:SSF52799,PIRSF_domain:PIRSF002004	ENST00000367376.2:c.3314_3315delGAinsCCATTTGTTTC	ENSP00000356346.3:p.Arg1105delinsThrIleCysPhe	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:198721489-198721491	CCATTTGTTTC	ENSG00000081237	ENST00000442510	Transcript	inframe_insertion	3461-3462	3320-3321	1107	R/TICF	aGA/aCCATTTGTTTC	-	-	1	PTPRC	HGNC	-	protein_coding	-	-	Pfam_domain:PF00102,PROSITE_profiles:PS50055,SMART_domains:SM00194,Superfamily_domains:SSF52799,PIRSF_domain:PIRSF002004	ENST00000442510.2:c.3320_3321delGAinsCCATTTGTTTC	ENSP00000411355.3:p.Arg1107delinsThrIleCysPhe	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:215847905-215847918	CAAG	ENSG00000042781	ENST00000366943	Transcript	feature_truncation	13722-13734	13335-13347	4445-4449	ENMDS/DL	gaGAACATGGACTCT/gaCTTG	-	-	-1	USH2A	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265	ENST00000366943.2:c.13335_13347delGAACATGGACTCTinsCTTG	ENSP00000355910.2:p.Glu4445_Ser4449delinsAspLeu	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:215847905-215847918	CAAG	ENSG00000042781	ENST00000307340	Transcript	feature_truncation	13722-13734	13335-13347	4445-4449	ENMDS/DL	gaGAACATGGACTCT/gaCTTG	-	-	-1	USH2A	HGNC	12601	protein_coding	-	-	PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265	ENST00000307340.3:c.13335_13347delGAACATGGACTCTinsCTTG	ENSP00000305941.3:p.Glu4445_Ser4449delinsAspLeu	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:220603308-220603314	-	ENSG00000224867	ENST00000416839	Transcript	inframe_deletion	125-130	125-130	42-44	LTH/H	cTCACACac/cac	-	-	-1	AC096644.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000416839.2:c.125_130delTCACAC	ENSP00000404591.2:p.Leu42_Thr43del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:220603308-220603314	GT	ENSG00000224867	ENST00000416839	Transcript	frameshift_variant,feature_truncation	125-130	125-130	42-44	-	-	-	-	-1	AC096644.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000416839.2:c.125_130delTCACACinsAC	ENSP00000404591.2:p.Leu42HisfsTer?	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:220603310-220603316	GTGA	ENSG00000224867	ENST00000416839	Transcript	frameshift_variant,feature_truncation	123-128	123-128	41-43	-	-	-	-	-1	AC096644.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000416839.2:c.123_128delTCTCACinsTCAC	ENSP00000404591.2:p.Leu42HisfsTer?	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:220603310-220603316	GA	ENSG00000224867	ENST00000416839	Transcript	frameshift_variant,feature_truncation	123-128	123-128	41-43	-	-	-	-	-1	AC096644.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000416839.2:c.123_128delTCTCACinsTC	ENSP00000404591.2:p.Leu42HisfsTer?	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:220603310-220603316	GT	ENSG00000224867	ENST00000416839	Transcript	frameshift_variant,feature_truncation	123-128	123-128	41-43	-	-	-	-	-1	AC096644.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000416839.2:c.123_128delTCTCACinsAC	ENSP00000404591.2:p.Leu42HisfsTer?	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:220603310-220603314	-	ENSG00000224867	ENST00000416839	Transcript	frameshift_variant,feature_truncation	125-128	125-128	42-43	-	-	rs10553491	-	-1	AC096644.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000416839.2:c.125_128delTCAC	ENSP00000404591.2:p.Leu42HisfsTer?	GTGA:0.1304	-:0.64	-:0.93	-:0.93	-:0.95	-	-	-	-	-	-	-	-
.	1:220603310-220603314	GTGTGTGTGTGT	ENSG00000224867	ENST00000416839	Transcript	frameshift_variant,feature_elongation	125-128	125-128	42-43	-	-	rs10553491	-	-1	AC096644.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000416839.2:c.125_128delTCACinsACACACACACAC	ENSP00000404591.2:p.Leu42HisfsTer?	GTGA:0.1304	-:0.64	-:0.93	-:0.93	-:0.95	-	-	-	-	-	-	-	-
.	1:220603312-220603314	-	ENSG00000224867	ENST00000416839	Transcript	frameshift_variant,feature_truncation	125-126	125-126	42	-	-	rs61048966	-	-1	AC096644.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000416839.2:c.125_126delTC	ENSP00000404591.2:p.Leu42HisfsTer?	GA:0.0831	-:0.76	-:0.96	-:0.96	-:0.96	-	-	-	-	-	-	-	-
.	1:220603313-220603314	TGTGTGTGT	ENSG00000224867	ENST00000416839	Transcript	frameshift_variant,feature_elongation	125	125	42	-	-	rs6675649	-	-1	AC096644.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000416839.2:c.125delTinsACACACACA	ENSP00000404591.2:p.Leu42HisfsTer?	-	-	-	-	-	-	-	-	-	-	-	-	-
.	1:248084746-248084764	CCATGTCG	ENSG00000177462	ENST00000319968	Transcript	frameshift_variant,feature_truncation	428-445	428-445	143-149	-	-	-	-	1	OR2T8	HGNC	15020	protein_coding	-	-	Transmembrane_helices:Tmhmm,Pfam_domain:PF00001,PROSITE_profiles:PS50262,Superfamily_domains:SSF81321	ENST00000319968.4:c.428_445delACCTGTCGTGTTGGCTCCinsCCATGTCG	ENSP00000326225.4:p.Asn143ThrfsTer17	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:74642499-74642513	CG	ENSG00000233155	ENST00000414130	Transcript	downstream_gene_variant	-	-	-	-	-	-	2736	-1	HMGA1P8	HGNC	39183	processed_pseudogene	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:74642499-74642513	CG	ENSG00000234521	ENST00000448783	Transcript	upstream_gene_variant	-	-	-	-	-	-	1892	-1	AC005041.11	Clone_based_vega_gene	-	processed_pseudogene	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:74642499-74642513	CG	ENSG00000159239	ENST00000517883	Transcript	feature_truncation	1198-1211	506-519	169-173	VEEAP/A	gTGGAGGAGGCGCCT/gCG	-	-	-1	C2orf81	HGNC	34350	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000517883.1:c.506_519delTGGAGGAGGCGCCTinsCG	ENSP00000431103.1:p.Val169_Pro173delinsAla	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:74642499-74642513	CG	ENSG00000159239	ENST00000518401	Transcript	downstream_gene_variant	-	-	-	-	-	-	631	-1	C2orf81	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:74642499-74642513	CG	ENSG00000159239	ENST00000517896	Transcript	downstream_gene_variant	-	-	-	-	-	-	211	-1	C2orf81	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:74642499-74642513	CG	ENSG00000159239	ENST00000518863	Transcript	downstream_gene_variant	-	-	-	-	-	-	22	-1	C2orf81	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:74642499-74642513	CG	ENSG00000159239	ENST00000290390	Transcript	feature_truncation	1019-1032	710-723	237-241	VEEAP/A	gTGGAGGAGGCGCCT/gCG	-	-	-1	C2orf81	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000290390.5:c.710_723delTGGAGGAGGCGCCTinsCG	ENSP00000290390.5:p.Val237_Pro241delinsAla	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:74642499-74642513	CG	-	ENSR00000592983	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:85547767-85547769	ACA	ENSG00000152291	ENST00000398263	Transcript	3_prime_UTR_variant,feature_elongation	3519-3520	-	-	-	-	-	-	-1	TGOLN2	HGNC	-	protein_coding	-	-	-	ENST00000398263.2:c.*2090_*2091delGGinsTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:85547767-85547769	ACA	ENSG00000152291	ENST00000409232	Transcript	downstream_gene_variant	-	-	-	-	-	-	1248	-1	TGOLN2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:85547767-85547769	ACA	ENSG00000152291	ENST00000282120	Transcript	3_prime_UTR_variant,feature_elongation	3225-3226	-	-	-	-	-	-	-1	TGOLN2	HGNC	-	protein_coding	-	-	-	ENST00000282120.2:c.*2090_*2091delGGinsTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:85547767-85547769	ACA	ENSG00000152291	ENST00000444342	Transcript	downstream_gene_variant	-	-	-	-	-	-	3739	-1	TGOLN2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:85547767-85547769	ACA	ENSG00000152291	ENST00000409015	Transcript	downstream_gene_variant	-	-	-	-	-	-	1248	-1	TGOLN2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:85547767-85547769	ACA	ENSG00000152291	ENST00000377386	Transcript	3_prime_UTR_variant,feature_elongation	3867-3868	-	-	-	-	-	-	-1	TGOLN2	HGNC	15450	protein_coding	-	-	-	ENST00000377386.3:c.*2090_*2091delGGinsTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:85547767-85547769	ACA	ENSG00000246575	ENST00000501107	Transcript	downstream_gene_variant	-	-	-	-	-	-	4116	1	AC093162.5	Clone_based_vega_gene	-	unprocessed_pseudogene	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:85547767-85547769	ACA	-	ENSR00001544037	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:101014572-101014580	TGACACAGGCTGAAGGA	ENSG00000115526	ENST00000418201	Transcript	downstream_gene_variant	-	-	-	-	-	-	4446	-1	CHST10	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:101014572-101014580	TGACACAGGCTGAAGGA	ENSG00000115526	ENST00000420858	Transcript	inframe_insertion	392-399	217-224	73-75	SQL/SFSLCH	AGCCAGCTc/TCCTTCAGCCTGTGTCAc	-	-	-1	CHST10	HGNC	-	protein_coding	-	-	-	ENST00000420858.1:c.217_224delAGCCAGCTinsTCCTTCAGCCTGTGTCA	ENSP00000405922.1:p.Gln74_Leu75delinsPheSerLeuCysHis	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:101014572-101014580	TGACACAGGCTGAAGGA	ENSG00000115526	ENST00000448989	Transcript	inframe_insertion	519-526	361-368	121-123	SQL/SFSLCH	AGCCAGCTc/TCCTTCAGCCTGTGTCAc	-	-	-1	CHST10	HGNC	-	protein_coding	-	-	-	ENST00000448989.1:c.361_368delAGCCAGCTinsTCCTTCAGCCTGTGTCA	ENSP00000387977.1:p.Gln122_Leu123delinsPheSerLeuCysHis	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:101014572-101014580	TGACACAGGCTGAAGGA	ENSG00000115526	ENST00000409046	Transcript	inframe_insertion	397-404	217-224	73-75	SQL/SFSLCH	AGCCAGCTc/TCCTTCAGCCTGTGTCAc	-	-	-1	CHST10	HGNC	-	protein_coding	-	-	-	ENST00000409046.1:c.217_224delAGCCAGCTinsTCCTTCAGCCTGTGTCA	ENSP00000387121.1:p.Gln74_Leu75delinsPheSerLeuCysHis	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:101014572-101014580	TGACACAGGCTGAAGGA	ENSG00000115526	ENST00000542617	Transcript	inframe_insertion	519-526	361-368	121-123	SQL/SFSLCH	AGCCAGCTc/TCCTTCAGCCTGTGTCAc	-	-	-1	CHST10	HGNC	-	protein_coding	-	-	-	ENST00000542617.1:c.361_368delAGCCAGCTinsTCCTTCAGCCTGTGTCA	ENSP00000438869.1:p.Gln122_Leu123delinsPheSerLeuCysHis	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:101014572-101014580	TGACACAGGCTGAAGGA	ENSG00000115526	ENST00000264249	Transcript	inframe_insertion	603-610	217-224	73-75	SQL/SFSLCH	AGCCAGCTc/TCCTTCAGCCTGTGTCAc	-	-	-1	CHST10	HGNC	19650	protein_coding	-	-	-	ENST00000264249.3:c.217_224delAGCCAGCTinsTCCTTCAGCCTGTGTCA	ENSP00000264249.3:p.Gln74_Leu75delinsPheSerLeuCysHis	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:101014572-101014580	TGACACAGGCTGAAGGA	ENSG00000115526	ENST00000409701	Transcript	inframe_insertion	484-491	217-224	73-75	SQL/SFSLCH	AGCCAGCTc/TCCTTCAGCCTGTGTCAc	-	-	-1	CHST10	HGNC	-	protein_coding	-	-	-	ENST00000409701.1:c.217_224delAGCCAGCTinsTCCTTCAGCCTGTGTCA	ENSP00000387309.1:p.Gln74_Leu75delinsPheSerLeuCysHis	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:101014572-101014580	TGACACAGGCTGAAGGA	ENSG00000115526	ENST00000421474	Transcript	inframe_insertion	521-528	217-224	73-75	SQL/SFSLCH	AGCCAGCTc/TCCTTCAGCCTGTGTCAc	-	-	-1	CHST10	HGNC	-	protein_coding	-	-	-	ENST00000421474.1:c.217_224delAGCCAGCTinsTCCTTCAGCCTGTGTCA	ENSP00000407525.1:p.Gln74_Leu75delinsPheSerLeuCysHis	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:101014572-101014580	TGACACAGGCTGAAGGA	ENSG00000115526	ENST00000484382	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	309-316	-	-	-	-	-	-	-1	CHST10	HGNC	-	processed_transcript	-	-	-	ENST00000484382.1:n.309_316delAGCCAGCTinsTCCTTCAGCCTGTGTCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:166810195-166810197	CGCTCACCTC	ENSG00000236107	ENST00000595647	Transcript	upstream_gene_variant	-	-	-	-	-	-	3712	1	AC010127.3	Clone_based_vega_gene	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:166810195-166810197	CGCTCACCTC	ENSG00000224490	ENST00000440322	Transcript	downstream_gene_variant	-	-	-	-	-	-	3795	1	TTC21B-AS1	HGNC	41115	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:166810195-166810197	CGCTCACCTC	ENSG00000236107	ENST00000597623	Transcript	upstream_gene_variant	-	-	-	-	-	-	3743	1	AC010127.3	Clone_based_vega_gene	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:166810195-166810197	CGCTCACCTC	ENSG00000123607	ENST00000243344	Transcript	frameshift_variant,splice_region_variant,feature_elongation	157-158	19-20	7	-	-	-	-	-1	TTC21B	HGNC	-	protein_coding	-	-	-	ENST00000243344.7:c.19_20delAAinsGAGGTGAGCG	ENSP00000243344.7:p.Lys7GlufsTer6	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:166810195-166810197	CGCTCACCTC	ENSG00000123607	ENST00000476227	Transcript	splice_region_variant,non_coding_exon_variant,nc_transcript_variant,feature_elongation	125-126	-	-	-	-	-	-	-1	TTC21B	HGNC	-	retained_intron	-	-	-	ENST00000476227.1:n.125_126delAAinsGAGGTGAGCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:166810195-166810197	CGCTCACCTC	ENSG00000123607	ENST00000464374	Transcript	splice_region_variant,non_coding_exon_variant,nc_transcript_variant,feature_elongation	59-60	-	-	-	-	-	-	-1	TTC21B	HGNC	-	retained_intron	-	-	-	ENST00000464374.1:n.59_60delAAinsGAGGTGAGCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:166810195-166810197	CGCTCACCTC	-	ENSR00000017016	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:201354934-201354945	GAA	ENSG00000155729	ENST00000359878	Transcript	frameshift_variant,feature_truncation	1670-1680	1159-1169	387-390	-	-	-	-	-1	KCTD18	HGNC	26446	protein_coding	-	-	-	ENST00000359878.3:c.1159_1169delACCGCGCCTTGinsTTC	ENSP00000352941.3:p.Thr387PhefsTer30	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:201354934-201354945	GAA	ENSG00000155729	ENST00000409157	Transcript	frameshift_variant,feature_truncation	1292-1302	1159-1169	387-390	-	-	-	-	-1	KCTD18	HGNC	-	protein_coding	-	-	-	ENST00000409157.1:c.1159_1169delACCGCGCCTTGinsTTC	ENSP00000386751.1:p.Thr387PhefsTer30	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:201354934-201354945	GAA	ENSG00000155729	ENST00000468413	Transcript	downstream_gene_variant	-	-	-	-	-	-	3004	-1	KCTD18	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:211068105-211068111	AAACATAACATTCATG	ENSG00000231294	ENST00000412065	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	AC006994.2	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000412065.1:n.313-15090_313-15085delCCTGGTinsAAACATAACATTCATG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:211068105-211068111	AAACATAACATTCATG	ENSG00000115361	ENST00000233710	Transcript	frameshift_variant,feature_elongation	1156-1161	928-933	310-311	-	-	-	-	-1	ACADL	HGNC	88	protein_coding	-	-	Pfam_domain:PF00441,Pfam_domain:PF08028,Superfamily_domains:SSF47203	ENST00000233710.3:c.928_933delACCAGGinsCATGAATGTTATGTTT	ENSP00000233710.3:p.Thr310HisfsTer6	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:211068105-211068111	AAACATAACATTCATG	-	ENSR00000606584	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:215840517-215840527	TTTA	ENSG00000144452	ENST00000389661	Transcript	feature_truncation	4568-4577	4409-4418	1470-1473	EQTA/VN	gAACAGACAGCc/gTAAAc	-	-	-1	ABCA12	HGNC	-	protein_coding	-	-	-	ENST00000389661.4:c.4409_4418delAACAGACAGCinsTAAA	ENSP00000374312.4:p.Glu1470_Ala1473delinsValAsn	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:215840517-215840527	TTTA	ENSG00000144452	ENST00000272895	Transcript	feature_truncation	5583-5592	5363-5372	1788-1791	EQTA/VN	gAACAGACAGCc/gTAAAc	-	-	-1	ABCA12	HGNC	14637	protein_coding	-	-	-	ENST00000272895.7:c.5363_5372delAACAGACAGCinsTAAA	ENSP00000272895.7:p.Glu1788_Ala1791delinsValAsn	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:218712915-218712918	TGCTGCCAT	ENSG00000079308	ENST00000413554	Transcript	downstream_gene_variant	-	-	-	-	-	-	689	-1	TNS1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:218712915-218712918	TGCTGCCAT	ENSG00000079308	ENST00000171887	Transcript	inframe_insertion	2400-2402	1947-1949	649-650	SW/SWQQ	tcGTGg/tcATGGCAGCAg	-	-	-1	TNS1	HGNC	11973	protein_coding	-	-	-	ENST00000171887.4:c.1947_1949delGTGinsATGGCAGCA	ENSP00000171887.4:p.Trp650_Gln651insGlnGln	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:218712915-218712918	TGCTGCCAT	ENSG00000079308	ENST00000430930	Transcript	inframe_insertion	2109-2111	1947-1949	649-650	SW/SWQQ	tcGTGg/tcATGGCAGCAg	-	-	-1	TNS1	HGNC	-	protein_coding	-	-	-	ENST00000430930.1:c.1947_1949delGTGinsATGGCAGCA	ENSP00000406016.1:p.Trp650_Gln651insGlnGln	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:218712915-218712918	TGCTGCCAT	ENSG00000079308	ENST00000480665	Transcript	downstream_gene_variant	-	-	-	-	-	-	277	-1	TNS1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:218712915-218712918	TGCTGCCAT	ENSG00000079308	ENST00000446903	Transcript	inframe_insertion	2445-2447	2322-2324	774-775	SW/SWQQ	tcGTGg/tcATGGCAGCAg	-	-	-1	TNS1	HGNC	-	protein_coding	-	-	-	ENST00000446903.1:c.2322_2324delGTGinsATGGCAGCA	ENSP00000405460.1:p.Trp775_Gln776insGlnGln	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:218712915-218712918	TGCTGCCAT	ENSG00000079308	ENST00000479185	Transcript	downstream_gene_variant	-	-	-	-	-	-	161	-1	TNS1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:218712915-218712918	TGCTGCCAT	ENSG00000079308	ENST00000419504	Transcript	inframe_insertion	2109-2111	1947-1949	649-650	SW/SWQQ	tcGTGg/tcATGGCAGCAg	-	-	-1	TNS1	HGNC	-	protein_coding	-	-	-	ENST00000419504.1:c.1947_1949delGTGinsATGGCAGCA	ENSP00000408724.1:p.Trp650_Gln651insGlnGln	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:231902546-231902547	GGGGGCGGCG	ENSG00000204128	ENST00000463834	Transcript	upstream_gene_variant	-	-	-	-	-	-	3275	1	C2orf72	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:231902546-231902547	GGGGGCGGCG	ENSG00000204128	ENST00000373640	Transcript	inframe_insertion	343	267	89	A/AGAA	gcT/gcGGGGGCGGCG	-	-	1	C2orf72	HGNC	27418	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50310	ENST00000373640.4:c.267delTinsGGGGGCGGCG	ENSP00000362743.4:p.Ala89_Gly90insGlyAlaAla	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:231902546-231902547	GGGGGCGGCG	ENSG00000204128	ENST00000477463	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	C2orf72	HGNC	-	processed_transcript	-	-	-	ENST00000477463.1:n.100+171delTinsGGGGGCGGCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:231902546-231902547	GGGGGCGGCG	-	ENSR00000609208	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:238499864-238499866	ATTCTTCAGGAGACTCTAGT	ENSG00000124839	ENST00000416106	Transcript	upstream_gene_variant	-	-	-	-	-	-	491	-1	RAB17	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:238499864-238499866	ATTCTTCAGGAGACTCTAGT	ENSG00000124839	ENST00000538644	Transcript	upstream_gene_variant	-	-	-	-	-	-	734	-1	RAB17	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:238499864-238499866	ATTCTTCAGGAGACTCTAGT	ENSG00000234949	ENST00000470375	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	203-204	-	-	-	-	-	-	1	AC104667.3	Clone_based_vega_gene	-	processed_transcript	-	-	-	ENST00000470375.1:n.203_204delGCinsATTCTTCAGGAGACTCTAGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:238499864-238499866	ATTCTTCAGGAGACTCTAGT	ENSG00000124839	ENST00000264601	Transcript	upstream_gene_variant	-	-	-	-	-	-	129	-1	RAB17	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:238499864-238499866	ATTCTTCAGGAGACTCTAGT	ENSG00000124839	ENST00000411462	Transcript	upstream_gene_variant	-	-	-	-	-	-	488	-1	RAB17	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:238499864-238499866	ATTCTTCAGGAGACTCTAGT	ENSG00000124839	ENST00000409576	Transcript	upstream_gene_variant	-	-	-	-	-	-	562	-1	RAB17	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:238499864-238499866	ATTCTTCAGGAGACTCTAGT	ENSG00000124839	ENST00000392001	Transcript	upstream_gene_variant	-	-	-	-	-	-	151	-1	RAB17	HGNC	16523	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:238499864-238499866	ATTCTTCAGGAGACTCTAGT	ENSG00000234949	ENST00000452801	Transcript	inframe_insertion	54-55	56-57	19	S/NSSGDSS	aGC/aATTCTTCAGGAGACTCTAGT	-	-	1	AC104667.3	Clone_based_vega_gene	-	protein_coding	-	-	-	ENST00000452801.1:c.54_55delGCinsATTCTTCAGGAGACTCTAGT	ENSP00000391086.1:p.Pro18_Ser19insAsnSerSerGlyAspSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:238499864-238499866	ATTCTTCAGGAGACTCTAGT	ENSG00000124839	ENST00000487008	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	RAB17	HGNC	-	processed_transcript	-	-	-	ENST00000487008.1:n.109-249_109-248delGCinsACTAGAGTCTCCTGAAGAAT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:238499864-238499866	ATTCTTCAGGAGACTCTAGT	ENSG00000124839	ENST00000414278	Transcript	upstream_gene_variant	-	-	-	-	-	-	507	-1	RAB17	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:238499864-238499866	ATTCTTCAGGAGACTCTAGT	ENSG00000124839	ENST00000409822	Transcript	upstream_gene_variant	-	-	-	-	-	-	442	-1	RAB17	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	2:238499864-238499866	ATTCTTCAGGAGACTCTAGT	-	ENSR00000610306	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:10088403-10088412	TTTAT	ENSG00000144554	ENST00000464934	Transcript	splice_donor_variant,non_coding_exon_variant,intron_variant,nc_transcript_variant,feature_truncation	294-?	-	-	-	-	-	-	1	FANCD2	HGNC	-	retained_intron	-	-	-	ENST00000464934.1:n.294_297+5delCTTAGTAAGinsTTTAT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:10088403-10088412	TTTAT	ENSG00000144554	ENST00000419585	Transcript	splice_donor_variant,coding_sequence_variant,intron_variant,feature_truncation	1436-?	1275-?	425-?	-	-	-	-	1	FANCD2	HGNC	-	protein_coding	-	-	-	ENST00000419585.1:c.1275_1278+5delCTTAGTAAGinsTTTAT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:10088403-10088412	TTTAT	ENSG00000144554	ENST00000383806	Transcript	splice_donor_variant,coding_sequence_variant,intron_variant,feature_truncation	1353-?	1275-?	425-?	-	-	-	-	1	FANCD2	HGNC	-	protein_coding	-	-	-	ENST00000383806.1:c.1275_1278+5delCTTAGTAAGinsTTTAT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:10088403-10088412	TTTAT	ENSG00000144554	ENST00000383807	Transcript	splice_donor_variant,coding_sequence_variant,intron_variant,feature_truncation	1353-?	1275-?	425-?	-	-	-	-	1	FANCD2	HGNC	-	protein_coding	-	-	-	ENST00000383807.1:c.1275_1278+5delCTTAGTAAGinsTTTAT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:10088403-10088412	TTTAT	ENSG00000144554	ENST00000483276	Transcript	splice_donor_variant,non_coding_exon_variant,intron_variant,nc_transcript_variant,feature_truncation	359-?	-	-	-	-	-	-	1	FANCD2	HGNC	-	processed_transcript	-	-	-	ENST00000483276.1:n.359_362+5delCTTAGTAAGinsTTTAT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:10088403-10088412	TTTAT	ENSG00000144554	ENST00000287647	Transcript	splice_donor_variant,coding_sequence_variant,intron_variant,feature_truncation	1368-?	1275-?	425-?	-	-	-	-	1	FANCD2	HGNC	3585	protein_coding	-	-	-	ENST00000287647.3:c.1275_1278+5delCTTAGTAAGinsTTTAT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:10088403-10088412	TTTAT	ENSG00000144554	ENST00000421731	Transcript	upstream_gene_variant	-	-	-	-	-	-	2734	1	FANCD2	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881	A	ENSG00000180438	ENST00000530586	Transcript	downstream_gene_variant	-	-	-	-	-	rs192562800	169	1	TPRXL	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881	A	ENSG00000180438	ENST00000528040	Transcript	downstream_gene_variant	-	-	-	-	-	rs192562800	143	1	TPRXL	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881	A	ENSG00000180438	ENST00000532924	Transcript	missense_variant	688	205	69	P/T	Ccc/Acc	rs192562800	-	1	TPRXL	HGNC	-	protein_coding	-	unknown(0)	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50324	ENST00000532924.1:c.205C>A	ENSP00000432662.1:p.Pro69Thr	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881	A	ENSG00000180438	ENST00000529129	Transcript	downstream_gene_variant	-	-	-	-	-	rs192562800	90	1	TPRXL	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881	A	ENSG00000180438	ENST00000532753	Transcript	intron_variant,nc_transcript_variant	-	-	-	-	-	rs192562800	-	1	TPRXL	HGNC	-	processed_transcript	-	-	-	ENST00000532753.1:n.324+873C>A	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881	A	ENSG00000180438	ENST00000326972	Transcript	missense_variant	566	205	69	P/T	Ccc/Acc	rs192562800	-	1	TPRXL	HGNC	-	protein_coding	tolerated(0.89)	unknown(0)	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50324	ENST00000326972.8:c.205C>A	ENSP00000322097.8:p.Pro69Thr	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881	A	ENSG00000180438	ENST00000424053	Transcript	missense_variant	752	205	69	P/T	Ccc/Acc	rs192562800	-	1	TPRXL	HGNC	-	protein_coding	tolerated(0.89)	unknown(0)	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50324	ENST00000424053.1:c.205C>A	ENSP00000400448.1:p.Pro69Thr	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881	A	ENSG00000180438	ENST00000528312	Transcript	downstream_gene_variant	-	-	-	-	-	rs192562800	76	1	TPRXL	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881	A	ENSG00000180438	ENST00000532880	Transcript	downstream_gene_variant	-	-	-	-	-	rs192562800	144	1	TPRXL	HGNC	32178	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881	A	ENSG00000180438	ENST00000528067	Transcript	missense_variant	543	205	69	P/T	Ccc/Acc	rs192562800	-	1	TPRXL	HGNC	-	protein_coding	-	unknown(0)	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50324	ENST00000528067.1:c.205C>A	ENSP00000435438.1:p.Pro69Thr	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881	A	ENSG00000180438	ENST00000429201	Transcript	missense_variant	652	205	69	P/T	Ccc/Acc	rs192562800	-	1	TPRXL	HGNC	-	protein_coding	tolerated(0.89)	unknown(0)	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50324	ENST00000429201.1:c.205C>A	ENSP00000400824.1:p.Pro69Thr	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881	A	ENSG00000180438	ENST00000524375	Transcript	downstream_gene_variant	-	-	-	-	-	rs192562800	53	1	TPRXL	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881-14105897	ACAG	ENSG00000180438	ENST00000530586	Transcript	downstream_gene_variant	-	-	-	-	-	-	170	1	TPRXL	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881-14105897	ACAG	ENSG00000180438	ENST00000528040	Transcript	downstream_gene_variant	-	-	-	-	-	-	144	1	TPRXL	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881-14105897	ACAG	ENSG00000180438	ENST00000532924	Transcript	feature_truncation	689-704	206-221	69-74	PSSSSP/HS	cCCAGCAGCAGCAGCCCc/cACAGc	-	-	1	TPRXL	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50324	ENST00000532924.1:c.206_221delCCAGCAGCAGCAGCCCinsACAG	ENSP00000432662.1:p.Pro69_Pro74delinsHisSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881-14105897	ACAG	ENSG00000180438	ENST00000529129	Transcript	downstream_gene_variant	-	-	-	-	-	-	91	1	TPRXL	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881-14105897	ACAG	ENSG00000180438	ENST00000532753	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	TPRXL	HGNC	-	processed_transcript	-	-	-	ENST00000532753.1:n.324+874_324+889delCCAGCAGCAGCAGCCCinsACAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881-14105897	ACAG	ENSG00000180438	ENST00000326972	Transcript	feature_truncation	567-582	206-221	69-74	PSSSSP/HS	cCCAGCAGCAGCAGCCCc/cACAGc	-	-	1	TPRXL	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50324	ENST00000326972.8:c.206_221delCCAGCAGCAGCAGCCCinsACAG	ENSP00000322097.8:p.Pro69_Pro74delinsHisSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881-14105897	ACAG	ENSG00000180438	ENST00000424053	Transcript	feature_truncation	753-768	206-221	69-74	PSSSSP/HS	cCCAGCAGCAGCAGCCCc/cACAGc	-	-	1	TPRXL	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50324	ENST00000424053.1:c.206_221delCCAGCAGCAGCAGCCCinsACAG	ENSP00000400448.1:p.Pro69_Pro74delinsHisSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881-14105897	ACAG	ENSG00000180438	ENST00000528312	Transcript	downstream_gene_variant	-	-	-	-	-	-	77	1	TPRXL	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881-14105897	ACAG	ENSG00000180438	ENST00000532880	Transcript	downstream_gene_variant	-	-	-	-	-	-	145	1	TPRXL	HGNC	32178	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881-14105897	ACAG	ENSG00000180438	ENST00000528067	Transcript	feature_truncation	544-559	206-221	69-74	PSSSSP/HS	cCCAGCAGCAGCAGCCCc/cACAGc	-	-	1	TPRXL	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50324	ENST00000528067.1:c.206_221delCCAGCAGCAGCAGCCCinsACAG	ENSP00000435438.1:p.Pro69_Pro74delinsHisSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881-14105897	ACAG	ENSG00000180438	ENST00000429201	Transcript	feature_truncation	653-668	206-221	69-74	PSSSSP/HS	cCCAGCAGCAGCAGCCCc/cACAGc	-	-	1	TPRXL	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50324	ENST00000429201.1:c.206_221delCCAGCAGCAGCAGCCCinsACAG	ENSP00000400824.1:p.Pro69_Pro74delinsHisSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881-14105897	ACAG	ENSG00000180438	ENST00000524375	Transcript	downstream_gene_variant	-	-	-	-	-	-	54	1	TPRXL	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881	T	ENSG00000180438	ENST00000530586	Transcript	downstream_gene_variant	-	-	-	-	-	rs192562800	169	1	TPRXL	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881	T	ENSG00000180438	ENST00000528040	Transcript	downstream_gene_variant	-	-	-	-	-	rs192562800	143	1	TPRXL	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881	T	ENSG00000180438	ENST00000532924	Transcript	missense_variant	688	205	69	P/S	Ccc/Tcc	rs192562800	-	1	TPRXL	HGNC	-	protein_coding	-	unknown(0)	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50324	ENST00000532924.1:c.205C>T	ENSP00000432662.1:p.Pro69Ser	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881	T	ENSG00000180438	ENST00000529129	Transcript	downstream_gene_variant	-	-	-	-	-	rs192562800	90	1	TPRXL	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881	T	ENSG00000180438	ENST00000532753	Transcript	intron_variant,nc_transcript_variant	-	-	-	-	-	rs192562800	-	1	TPRXL	HGNC	-	processed_transcript	-	-	-	ENST00000532753.1:n.324+873C>T	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881	T	ENSG00000180438	ENST00000326972	Transcript	missense_variant	566	205	69	P/S	Ccc/Tcc	rs192562800	-	1	TPRXL	HGNC	-	protein_coding	tolerated(1)	unknown(0)	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50324	ENST00000326972.8:c.205C>T	ENSP00000322097.8:p.Pro69Ser	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881	T	ENSG00000180438	ENST00000424053	Transcript	missense_variant	752	205	69	P/S	Ccc/Tcc	rs192562800	-	1	TPRXL	HGNC	-	protein_coding	tolerated(1)	unknown(0)	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50324	ENST00000424053.1:c.205C>T	ENSP00000400448.1:p.Pro69Ser	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881	T	ENSG00000180438	ENST00000528312	Transcript	downstream_gene_variant	-	-	-	-	-	rs192562800	76	1	TPRXL	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881	T	ENSG00000180438	ENST00000532880	Transcript	downstream_gene_variant	-	-	-	-	-	rs192562800	144	1	TPRXL	HGNC	32178	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881	T	ENSG00000180438	ENST00000528067	Transcript	missense_variant	543	205	69	P/S	Ccc/Tcc	rs192562800	-	1	TPRXL	HGNC	-	protein_coding	-	unknown(0)	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50324	ENST00000528067.1:c.205C>T	ENSP00000435438.1:p.Pro69Ser	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881	T	ENSG00000180438	ENST00000429201	Transcript	missense_variant	652	205	69	P/S	Ccc/Tcc	rs192562800	-	1	TPRXL	HGNC	-	protein_coding	tolerated(1)	unknown(0)	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50324	ENST00000429201.1:c.205C>T	ENSP00000400824.1:p.Pro69Ser	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:14105881	T	ENSG00000180438	ENST00000524375	Transcript	downstream_gene_variant	-	-	-	-	-	rs192562800	53	1	TPRXL	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:49200619-49200627	CG	ENSG00000177352	ENST00000321895	Transcript	feature_truncation	1122-1129	1015-1022	339-341	WAK/R	TGGGCCAAg/CGg	-	-	-1	CCDC71	HGNC	25760	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50310,PROSITE_profiles:PS50318	ENST00000321895.6:c.1015_1022delTGGGCCAAinsCG	ENSP00000319006.6:p.Trp339_Lys341delinsArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:49200619-49200627	CG	ENSG00000270441	ENST00000603877	Transcript	upstream_gene_variant	-	-	-	-	-	-	2336	-1	RP11-694I15.7	Clone_based_vega_gene	-	unprocessed_pseudogene	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:49836672-49836676	TACACATGTG	ENSG00000187492	ENST00000487256	Transcript	splice_region_variant,intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	CDHR4	HGNC	-	protein_coding	-	-	-	ENST00000487256.1:c.240+4_240+7delGGGTinsCACATGTGTA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:49836672-49836676	TACACATGTG	ENSG00000187492	ENST00000343366	Transcript	splice_region_variant,intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	CDHR4	HGNC	-	protein_coding	-	-	-	ENST00000343366.4:c.240+4_240+7delGGGTinsCACATGTGTA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:49836672-49836676	TACACATGTG	ENSG00000185614	ENST00000333323	Transcript	upstream_gene_variant	-	-	-	-	-	-	4011	1	FAM212A	HGNC	32480	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:49836672-49836676	TACACATGTG	ENSG00000187492	ENST00000412678	Transcript	splice_region_variant,intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	CDHR4	HGNC	-	protein_coding	-	-	-	ENST00000412678.2:c.240+4_240+7delGGGTinsCACATGTGTA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:53324815-53324825	AGGA	ENSG00000162290	ENST00000606822	Transcript	splice_region_variant,feature_truncation	1339-1348	1331-1340	444-447	SAIP/IL	aGTGCCATCCCg/aTCCTg	-	-	-1	DCP1A	HGNC	-	protein_coding	-	-	-	ENST00000606822.1:c.1331_1340delGTGCCATCCCinsTCCT	ENSP00000476219.1:p.Ser444_Pro447delinsIleLeu	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:53324815-53324825	AGGA	ENSG00000162290	ENST00000607628	Transcript	splice_region_variant,feature_truncation	1555-1564	1445-1454	482-485	SAIP/IL	aGTGCCATCCCg/aTCCTg	-	-	-1	DCP1A	HGNC	-	protein_coding	-	-	-	ENST00000607628.1:c.1445_1454delGTGCCATCCCinsTCCT	ENSP00000475920.1:p.Ser482_Pro485delinsIleLeu	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:53324815-53324825	AGGA	ENSG00000162290	ENST00000560624	Transcript	downstream_gene_variant	-	-	-	-	-	-	1838	-1	DCP1A	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:53324815-53324825	AGGA	ENSG00000162290	ENST00000558034	Transcript	upstream_gene_variant	-	-	-	-	-	-	2437	-1	DCP1A	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:53324815-53324825	AGGA	ENSG00000162290	ENST00000480258	Transcript	splice_region_variant,non_coding_exon_variant,nc_transcript_variant,feature_truncation	1538-1547	-	-	-	-	-	-	-1	DCP1A	HGNC	18714	processed_transcript	-	-	-	ENST00000480258.1:n.1538_1547delGTGCCATCCCinsTCCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:53324815-53324825	AGGA	ENSG00000263406	ENST00000579907	Transcript	downstream_gene_variant	-	-	-	-	-	-	1674	1	RN7SL821P	HGNC	46837	misc_RNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:53324815-53324825	AGGA	ENSG00000162290	ENST00000294241	Transcript	splice_donor_variant,intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	DCP1A	HGNC	-	protein_coding	-	-	-	ENST00000294241.6:c.1444+1_1444+10delGTGCCATCCCinsTCCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:53324815-53324825	AGGA	ENSG00000162290	ENST00000494659	Transcript	splice_region_variant,non_coding_exon_variant,nc_transcript_variant,feature_truncation	1339-1348	-	-	-	-	-	-	-1	DCP1A	HGNC	-	processed_transcript	-	-	-	ENST00000494659.2:n.1339_1348delGTGCCATCCCinsTCCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:53324815-53324825	AGGA	ENSG00000206902	ENST00000384175	Transcript	downstream_gene_variant	-	-	-	-	-	-	47	1	Y_RNA	RFAM	-	misc_RNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:63898380-63898390	C	ENSG00000163635	ENST00000474513	Transcript	downstream_gene_variant	-	-	-	-	-	-	30	1	ATXN7	HGNC	10560	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:63898380-63898390	C	ENSG00000163635	ENST00000474112	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	660-669	-	-	-	-	-	-	1	ATXN7	HGNC	-	retained_intron	-	-	-	ENST00000474112.1:n.660_669delAGCAGCAGCAinsC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:63898380-63898390	C	ENSG00000163635	ENST00000398590	Transcript	feature_truncation	660-669	107-116	36-39	QQQQ/P	cAGCAGCAGCAg/cCg	-	-	1	ATXN7	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000398590.3:c.107_116delAGCAGCAGCAinsC	ENSP00000381590.3:p.Gln36_Gln39delinsPro	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:63898380-63898390	C	ENSG00000163635	ENST00000538065	Transcript	feature_truncation	107-116	107-116	36-39	QQQQ/P	cAGCAGCAGCAg/cCg	-	-	1	ATXN7	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000538065.1:c.107_116delAGCAGCAGCAinsC	ENSP00000439585.1:p.Gln36_Gln39delinsPro	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:63898380-63898390	C	ENSG00000163635	ENST00000487717	Transcript	feature_truncation	371-380	107-116	36-39	QQQQ/P	cAGCAGCAGCAg/cCg	-	-	1	ATXN7	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000487717.1:c.107_116delAGCAGCAGCAinsC	ENSP00000420234.1:p.Gln36_Gln39delinsPro	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:63898380-63898390	C	ENSG00000163635	ENST00000295900	Transcript	feature_truncation	657-666	107-116	36-39	QQQQ/P	cAGCAGCAGCAg/cCg	-	-	1	ATXN7	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000295900.6:c.107_116delAGCAGCAGCAinsC	ENSP00000295900.6:p.Gln36_Gln39delinsPro	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:63898380-63898390	C	-	ENSR00001366011	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75714824-75714825	-	ENSG00000172969	ENST00000464571	Transcript	frameshift_variant,feature_truncation	529	479	160	-	-	rs115693429,rs373728386,rs74640812	-	1	FRG2C	HGNC	-	protein_coding	-	-	-	ENST00000464571.1:c.479delG	ENSP00000419432.1:p.Arg160SerfsTer5	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75714824-75714825	-	ENSG00000236138	ENST00000489078	Transcript	upstream_gene_variant	-	-	-	-	-	rs115693429,rs373728386,rs74640812	3257	1	RP11-413E6.7	Clone_based_vega_gene	-	processed_pseudogene	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75714824-75714825	-	ENSG00000172969	ENST00000308062	Transcript	frameshift_variant,feature_truncation	532	482	161	-	-	rs115693429,rs373728386,rs74640812	-	1	FRG2C	HGNC	33626	protein_coding	-	-	-	ENST00000308062.3:c.482delG	ENSP00000312299.3:p.Arg161SerfsTer5	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75714825-75714835	TCTCAGGCT	ENSG00000172969	ENST00000464571	Transcript	frameshift_variant,feature_truncation	530-539	480-489	160-163	-	-	-	-	1	FRG2C	HGNC	-	protein_coding	-	-	-	ENST00000464571.1:c.480_489delGTCTCGGGCCinsTCTCAGGCT	ENSP00000419432.1:p.Arg160SerfsTer5	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75714825-75714835	TCTCAGGCT	ENSG00000236138	ENST00000489078	Transcript	upstream_gene_variant	-	-	-	-	-	-	3247	1	RP11-413E6.7	Clone_based_vega_gene	-	processed_pseudogene	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75714825-75714835	TCTCAGGCT	ENSG00000172969	ENST00000308062	Transcript	frameshift_variant,feature_truncation	533-542	483-492	161-164	-	-	-	-	1	FRG2C	HGNC	33626	protein_coding	-	-	-	ENST00000308062.3:c.483_492delGTCTCGGGCCinsTCTCAGGCT	ENSP00000312299.3:p.Arg161SerfsTer5	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75787042-75787047	AAATGACTTATG	ENSG00000227124	ENST00000478296	Transcript	frameshift_variant,feature_elongation	1854-1858	1577-1581	526-527	-	-	-	-	-1	ZNF717	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50157,SMART_domains:SM00355,Superfamily_domains:SSF57667	ENST00000478296.1:c.1577_1581delCATTCinsCATAAGTCATTT	ENSP00000419377.1:p.Phe527Ter	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75787042-75787047	AAATGACTTATA	ENSG00000227124	ENST00000478296	Transcript	frameshift_variant,feature_elongation	1854-1858	1577-1581	526-527	-	-	-	-	-1	ZNF717	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50157,SMART_domains:SM00355,Superfamily_domains:SSF57667	ENST00000478296.1:c.1577_1581delCATTCinsTATAAGTCATTT	ENSP00000419377.1:p.Ser526LeufsTer2	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75787042-75787047	AAATGACTTATG	ENSG00000227124	ENST00000471541	Transcript	downstream_gene_variant	-	-	-	-	-	-	1396	-1	ZNF717	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75787042-75787047	AAATGACTTATA	ENSG00000227124	ENST00000471541	Transcript	downstream_gene_variant	-	-	-	-	-	-	1396	-1	ZNF717	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75787042-75787047	AAATGACTTATG	ENSG00000227124	ENST00000400845	Transcript	frameshift_variant,feature_elongation	1994-1998	1706-1710	569-570	-	-	-	-	-1	ZNF717	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50157,SMART_domains:SM00355,Superfamily_domains:SSF57667	ENST00000400845.3:c.1706_1710delCATTCinsCATAAGTCATTT	ENSP00000383643.3:p.Phe570Ter	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75787042-75787047	AAATGACTTATA	ENSG00000227124	ENST00000400845	Transcript	frameshift_variant,feature_elongation	1994-1998	1706-1710	569-570	-	-	-	-	-1	ZNF717	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50157,SMART_domains:SM00355,Superfamily_domains:SSF57667	ENST00000400845.3:c.1706_1710delCATTCinsTATAAGTCATTT	ENSP00000383643.3:p.Ser569LeufsTer2	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75787042-75787047	AAATGACTTATG	ENSG00000227124	ENST00000422325	Transcript	frameshift_variant,feature_elongation	2050-2054	1727-1731	576-577	-	-	-	-	-1	ZNF717	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50157,SMART_domains:SM00355,Superfamily_domains:SSF57667	ENST00000422325.1:c.1727_1731delCATTCinsCATAAGTCATTT	ENSP00000409514.1:p.Phe577Ter	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75787042-75787047	AAATGACTTATA	ENSG00000227124	ENST00000422325	Transcript	frameshift_variant,feature_elongation	2050-2054	1727-1731	576-577	-	-	-	-	-1	ZNF717	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50157,SMART_domains:SM00355,Superfamily_domains:SSF57667	ENST00000422325.1:c.1727_1731delCATTCinsTATAAGTCATTT	ENSP00000409514.1:p.Ser576LeufsTer2	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75787042-75787047	AAATGACTTATG	ENSG00000227124	ENST00000477374	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ZNF717	HGNC	-	protein_coding	-	-	-	ENST00000477374.1:c.277+3380_277+3384delCATTCinsCATAAGTCATTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75787042-75787047	AAATGACTTATA	ENSG00000227124	ENST00000477374	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ZNF717	HGNC	-	protein_coding	-	-	-	ENST00000477374.1:c.277+3380_277+3384delCATTCinsTATAAGTCATTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75787042-75787047	AAATGACTTATG	ENSG00000227124	ENST00000491507	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	ZNF717	HGNC	29448	processed_transcript	-	-	-	ENST00000491507.1:n.544+3380_544+3384delCATTCinsCATAAGTCATTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75787042-75787047	AAATGACTTATA	ENSG00000227124	ENST00000491507	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	ZNF717	HGNC	29448	processed_transcript	-	-	-	ENST00000491507.1:n.544+3380_544+3384delCATTCinsTATAAGTCATTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75787042-75787047	AAATGACTTATG	ENSG00000227124	ENST00000468296	Transcript	downstream_gene_variant	-	-	-	-	-	-	1396	-1	ZNF717	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75787042-75787047	AAATGACTTATA	ENSG00000227124	ENST00000468296	Transcript	downstream_gene_variant	-	-	-	-	-	-	1396	-1	ZNF717	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75787042-75787047	AAATGACTTATG	ENSG00000266396	ENST00000582824	Transcript	upstream_gene_variant	-	-	-	-	-	-	384	1	MIR4273	HGNC	38339	miRNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75787042-75787047	AAATGACTTATA	ENSG00000266396	ENST00000582824	Transcript	upstream_gene_variant	-	-	-	-	-	-	384	1	MIR4273	HGNC	38339	miRNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75787042-75787047	AAATGACTTATG	-	ENSR00001480809	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75787042-75787047	AAATGACTTATA	-	ENSR00001480809	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75787042-75787044	AAATGACTT	ENSG00000227124	ENST00000478296	Transcript	frameshift_variant,feature_elongation	1857-1858	1580-1581	527	-	-	-	-	-1	ZNF717	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50157,SMART_domains:SM00355,Superfamily_domains:SSF57667	ENST00000478296.1:c.1580_1581delTCinsAAGTCATTT	ENSP00000419377.1:p.Phe527Ter	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75787042-75787044	AAATGACTT	ENSG00000227124	ENST00000471541	Transcript	downstream_gene_variant	-	-	-	-	-	-	1399	-1	ZNF717	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75787042-75787044	AAATGACTT	ENSG00000227124	ENST00000400845	Transcript	frameshift_variant,feature_elongation	1997-1998	1709-1710	570	-	-	-	-	-1	ZNF717	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50157,SMART_domains:SM00355,Superfamily_domains:SSF57667	ENST00000400845.3:c.1709_1710delTCinsAAGTCATTT	ENSP00000383643.3:p.Phe570Ter	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75787042-75787044	AAATGACTT	ENSG00000227124	ENST00000422325	Transcript	frameshift_variant,feature_elongation	2053-2054	1730-1731	577	-	-	-	-	-1	ZNF717	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50157,SMART_domains:SM00355,Superfamily_domains:SSF57667	ENST00000422325.1:c.1730_1731delTCinsAAGTCATTT	ENSP00000409514.1:p.Phe577Ter	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75787042-75787044	AAATGACTT	ENSG00000227124	ENST00000477374	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ZNF717	HGNC	-	protein_coding	-	-	-	ENST00000477374.1:c.277+3383_277+3384delTCinsAAGTCATTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75787042-75787044	AAATGACTT	ENSG00000227124	ENST00000491507	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	ZNF717	HGNC	29448	processed_transcript	-	-	-	ENST00000491507.1:n.544+3383_544+3384delTCinsAAGTCATTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75787042-75787044	AAATGACTT	ENSG00000227124	ENST00000468296	Transcript	downstream_gene_variant	-	-	-	-	-	-	1399	-1	ZNF717	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75787042-75787044	AAATGACTT	ENSG00000266396	ENST00000582824	Transcript	upstream_gene_variant	-	-	-	-	-	-	387	1	MIR4273	HGNC	38339	miRNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:75787042-75787044	AAATGACTT	-	ENSR00001480809	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:121351314-121351315	AGGCTCAGGCTCA	ENSG00000180353	ENST00000428394	Transcript	inframe_insertion	1072	993	331	P/PEPEP	ccC/ccTGAGCCTGAGCCT	COSM1418167	-	-1	HCLS1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50313,PROSITE_profiles:PS50099	ENST00000428394.2:c.993delCinsTGAGCCTGAGCCT	ENSP00000387645.2:p.Glu328_Pro331dup	-	-	-	-	-	-	-	-	1	-	-	-	-
.	3:121351314-121351315	AGGCTCAGGCTCA	ENSG00000163833	ENST00000338040	Transcript	downstream_gene_variant	-	-	-	-	-	COSM1418167	2176	1	FBXO40	HGNC	29816	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	3:121351314-121351315	AGGCTCAGGCTCA	ENSG00000180353	ENST00000464274	Transcript	downstream_gene_variant	-	-	-	-	-	COSM1418167	4678	-1	HCLS1	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	3:121351314-121351315	AGGCTCAGGCTCA	ENSG00000180353	ENST00000495491	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	1157	-	-	-	-	COSM1418167	-	-1	HCLS1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000495491.1:c.*419delCinsTGAGCCTGAGCCT	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	3:121351314-121351315	AGGCTCAGGCTCA	ENSG00000180353	ENST00000473883	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	1907	-	-	-	-	COSM1418167	-	-1	HCLS1	HGNC	-	processed_transcript	-	-	-	ENST00000473883.1:n.1907delCinsTGAGCCTGAGCCT	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	3:121351314-121351315	AGGCTCAGGCTCA	ENSG00000180353	ENST00000314583	Transcript	inframe_insertion	1196	1104	368	P/PEPEP	ccC/ccTGAGCCTGAGCCT	COSM1418167	-	-1	HCLS1	HGNC	4844	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50313,PROSITE_profiles:PS50099	ENST00000314583.3:c.1104delCinsTGAGCCTGAGCCT	ENSP00000320176.3:p.Glu365_Pro368dup	-	-	-	-	-	-	-	-	1	-	-	-	-
.	3:121351314-121351315	AGGCTCGGGCTCAGGCTCGGGCTCAGGCTCA	ENSG00000180353	ENST00000428394	Transcript	inframe_insertion	1072	993	331	P/PEPEPEPEPEP	ccC/ccTGAGCCTGAGCCCGAGCCTGAGCCCGAGCCT	COSM1418167	-	-1	HCLS1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50313,PROSITE_profiles:PS50099	ENST00000428394.2:c.993delCinsTGAGCCTGAGCCCGAGCCTGAGCCCGAGCCT	ENSP00000387645.2:p.Pro331_Glu332insGluProGluProGluProGluProGluPro	-	-	-	-	-	-	-	-	1	-	-	-	-
.	3:121351314-121351315	AGGCTCGGGCTCAGGCTCGGGCTCAGGCTCA	ENSG00000163833	ENST00000338040	Transcript	downstream_gene_variant	-	-	-	-	-	COSM1418167	2176	1	FBXO40	HGNC	29816	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	3:121351314-121351315	AGGCTCGGGCTCAGGCTCGGGCTCAGGCTCA	ENSG00000180353	ENST00000464274	Transcript	downstream_gene_variant	-	-	-	-	-	COSM1418167	4678	-1	HCLS1	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	3:121351314-121351315	AGGCTCGGGCTCAGGCTCGGGCTCAGGCTCA	ENSG00000180353	ENST00000495491	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	1157	-	-	-	-	COSM1418167	-	-1	HCLS1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000495491.1:c.*419delCinsTGAGCCTGAGCCCGAGCCTGAGCCCGAGCCT	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	3:121351314-121351315	AGGCTCGGGCTCAGGCTCGGGCTCAGGCTCA	ENSG00000180353	ENST00000473883	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	1907	-	-	-	-	COSM1418167	-	-1	HCLS1	HGNC	-	processed_transcript	-	-	-	ENST00000473883.1:n.1907delCinsTGAGCCTGAGCCCGAGCCTGAGCCCGAGCCT	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	3:121351314-121351315	AGGCTCGGGCTCAGGCTCGGGCTCAGGCTCA	ENSG00000180353	ENST00000314583	Transcript	inframe_insertion	1196	1104	368	P/PEPEPEPEPEP	ccC/ccTGAGCCTGAGCCCGAGCCTGAGCCCGAGCCT	COSM1418167	-	-1	HCLS1	HGNC	4844	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50313,PROSITE_profiles:PS50099	ENST00000314583.3:c.1104delCinsTGAGCCTGAGCCCGAGCCTGAGCCCGAGCCT	ENSP00000320176.3:p.Pro368_Glu369insGluProGluProGluProGluProGluPro	-	-	-	-	-	-	-	-	1	-	-	-	-
.	3:121448860-121448863	GGAAAAAAGTTG	ENSG00000173230	ENST00000393667	Transcript	inframe_insertion,splice_region_variant	209-211	98-100	33-34	EL/ATFFL	gAATta/gCAACTTTTTTCCta	-	-	-1	GOLGB1	HGNC	-	protein_coding	-	-	-	ENST00000393667.3:c.98_100delAATinsCAACTTTTTTCC	ENSP00000377275.3:p.Glu33delinsAlaThrPhePhe	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:121448860-121448863	GGAAAAAAGTTG	ENSG00000173230	ENST00000472829	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	201-203	-	-	-	-	-	-	-1	GOLGB1	HGNC	-	processed_transcript	-	-	-	ENST00000472829.1:n.201_203delAATinsCAACTTTTTTCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:121448860-121448863	GGAAAAAAGTTG	ENSG00000173230	ENST00000482512	Transcript	splice_region_variant,3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	219-221	-	-	-	-	-	-	-1	GOLGB1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000482512.1:c.*6_*8delAATinsCAACTTTTTTCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:121448860-121448863	GGAAAAAAGTTG	ENSG00000173230	ENST00000340645	Transcript	inframe_insertion,splice_region_variant	224-226	98-100	33-34	EL/ATFFL	gAATta/gCAACTTTTTTCCta	-	-	-1	GOLGB1	HGNC	4429	protein_coding	-	-	-	ENST00000340645.5:c.98_100delAATinsCAACTTTTTTCC	ENSP00000341848.5:p.Glu33delinsAlaThrPhePhe	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:121448860-121448863	GGAAAAAAGTTG	ENSG00000173230	ENST00000472475	Transcript	inframe_insertion,splice_region_variant	254-256	98-100	33-34	EL/ATFFL	gAATta/gCAACTTTTTTCCta	-	-	-1	GOLGB1	HGNC	-	protein_coding	-	-	-	ENST00000472475.1:c.98_100delAATinsCAACTTTTTTCC	ENSP00000417695.1:p.Glu33delinsAlaThrPhePhe	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:121448860-121448863	GGAAAAAAGTTG	ENSG00000173230	ENST00000494517	Transcript	inframe_insertion,splice_region_variant	135-137	98-100	33-34	EL/ATFFL	gAATta/gCAACTTTTTTCCta	-	-	-1	GOLGB1	HGNC	-	protein_coding	-	-	-	ENST00000494517.1:c.98_100delAATinsCAACTTTTTTCC	ENSP00000418231.1:p.Glu33delinsAlaThrPhePhe	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:121448860-121448863	GGAAAAAAGTTG	ENSG00000173230	ENST00000489400	Transcript	upstream_gene_variant	-	-	-	-	-	-	64	-1	GOLGB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:124774577-124774581	GCAGCTCCAT	ENSG00000173706	ENST00000311127	Transcript	inframe_insertion	222-225	154-157	52-53	LE/MELQ	CTGGag/ATGGAGCTGCag	-	-	-1	HEG1	HGNC	29227	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000311127.4:c.154_157delCTGGinsATGGAGCTGC	ENSP00000311502.3:p.Leu52_Glu53delinsMetGluLeuGln	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:124774577-124774581	GCAGCTCCAT	ENSG00000252642	ENST00000516833	Transcript	downstream_gene_variant	-	-	-	-	-	-	2567	-1	RNA5SP137	HGNC	43037	rRNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:124774577-124774581	GCAGCTCCAT	-	ENSR00001483149	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:130116524-130116536	TCAGCTCTATCAAGGGGGT	ENSG00000172752	ENST00000432398	Transcript	frameshift_variant,feature_elongation	4161-4172	3667-3678	1223-1226	-	-	-	-	1	COL6A5	HGNC	-	protein_coding	-	-	Superfamily_domains:SSF53300	ENST00000432398.2:c.3667_3678delGGCATCTTAGAAinsTCAGCTCTATCAAGGGGGT	ENSP00000390895.2:p.Gly1223SerfsTer7	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:130116524-130116536	TCAGCTCTATCAAGGGGGT	ENSG00000172752	ENST00000265379	Transcript	frameshift_variant,feature_elongation	4161-4172	3667-3678	1223-1226	-	-	-	-	1	COL6A5	HGNC	-	protein_coding	-	-	Superfamily_domains:SSF53300	ENST00000265379.6:c.3667_3678delGGCATCTTAGAAinsTCAGCTCTATCAAGGGGGT	ENSP00000265379.6:p.Gly1223SerfsTer7	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:130116524-130116536	TCAGCTCTATCAAGGGGGT	ENSG00000172752	ENST00000312481	Transcript	frameshift_variant,NMD_transcript_variant,feature_elongation	4161-4172	3667-3678	1223-1226	-	-	-	-	1	COL6A5	HGNC	26674	nonsense_mediated_decay	-	-	Superfamily_domains:SSF53300	ENST00000312481.7:c.3667_3678delGGCATCTTAGAAinsTCAGCTCTATCAAGGGGGT	ENSP00000309762.7:p.Gly1223SerfsTer7	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:158450079	A	ENSG00000240207	ENST00000465477	Transcript	upstream_gene_variant	-	-	-	-	-	-	37	1	RP11-379F4.4	Clone_based_vega_gene	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:158450079	A	ENSG00000240207	ENST00000607426	Transcript	upstream_gene_variant	-	-	-	-	-	-	3431	1	RP11-379F4.4	Clone_based_vega_gene	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:158450079	A	ENSG00000240207	ENST00000468242	Transcript	upstream_gene_variant	-	-	-	-	-	-	88	1	RP11-379F4.4	Clone_based_vega_gene	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:158450079	A	ENSG00000118855	ENST00000486568	Transcript	5_prime_UTR_variant	93	-	-	-	-	-	-	1	MFSD1	HGNC	25874	protein_coding	-	-	-	ENST00000486568.1:c.-124G>A	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:158450079	A	ENSG00000118849	ENST00000498640	Transcript	non_coding_exon_variant,nc_transcript_variant	200	-	-	-	-	-	-	-1	RARRES1	HGNC	-	processed_transcript	-	-	-	ENST00000498640.1:n.200C>T	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:158450079	A	ENSG00000240207	ENST00000495318	Transcript	non_coding_exon_variant,nc_transcript_variant	28	-	-	-	-	-	-	1	RP11-379F4.4	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000495318.1:n.28G>A	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:158450079	A	ENSG00000118855	ENST00000491804	Transcript	upstream_gene_variant	-	-	-	-	-	-	67	1	MFSD1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:158450079	A	ENSG00000118849	ENST00000237696	Transcript	synonymous_variant	407	126	42	D	gaC/gaT	-	-	-1	RARRES1	HGNC	9867	protein_coding	-	-	Low_complexity_(Seg):Seg,PIRSF_domain:PIRSF011132	ENST00000237696.5:c.126C>T	ENST00000237696.5:c.126C>T(p.%3D)	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:158450079	A	ENSG00000118849	ENST00000479756	Transcript	synonymous_variant	153	126	42	D	gaC/gaT	-	-	-1	RARRES1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000479756.1:c.126C>T	ENST00000479756.1:c.126C>T(p.%3D)	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:158450079	A	-	ENSR00001377940	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:158450079-158450080	CCCCGGGGC	ENSG00000240207	ENST00000465477	Transcript	upstream_gene_variant	-	-	-	-	-	rs7621322	36	1	RP11-379F4.4	Clone_based_vega_gene	-	antisense	-	-	-	-	-	C:0.2020	C:0.42	C:0.18	C:0.03	C:0.20	-	-	-	-	-	-	-	-
.	3:158450079-158450080	CCCCGGGGC	ENSG00000240207	ENST00000607426	Transcript	upstream_gene_variant	-	-	-	-	-	rs7621322	3430	1	RP11-379F4.4	Clone_based_vega_gene	-	antisense	-	-	-	-	-	C:0.2020	C:0.42	C:0.18	C:0.03	C:0.20	-	-	-	-	-	-	-	-
.	3:158450079-158450080	CCCCGGGGC	ENSG00000240207	ENST00000468242	Transcript	upstream_gene_variant	-	-	-	-	-	rs7621322	87	1	RP11-379F4.4	Clone_based_vega_gene	-	antisense	-	-	-	-	-	C:0.2020	C:0.42	C:0.18	C:0.03	C:0.20	-	-	-	-	-	-	-	-
.	3:158450079-158450080	CCCCGGGGC	ENSG00000118855	ENST00000486568	Transcript	5_prime_UTR_variant,feature_elongation	94	-	-	-	-	rs7621322	-	1	MFSD1	HGNC	25874	protein_coding	-	-	-	ENST00000486568.1:c.-123delTinsCCCCGGGGC	-	C:0.2020	C:0.42	C:0.18	C:0.03	C:0.20	-	-	-	-	-	-	-	-
.	3:158450079-158450080	CCCCGGGGC	ENSG00000118849	ENST00000498640	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	199	-	-	-	-	rs7621322	-	-1	RARRES1	HGNC	-	processed_transcript	-	-	-	ENST00000498640.1:n.199delAinsGCCCCGGGG	-	C:0.2020	C:0.42	C:0.18	C:0.03	C:0.20	-	-	-	-	-	-	-	-
.	3:158450079-158450080	CCCCGGGGC	ENSG00000240207	ENST00000495318	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	29	-	-	-	-	rs7621322	-	1	RP11-379F4.4	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000495318.1:n.29delTinsCCCCGGGGC	-	C:0.2020	C:0.42	C:0.18	C:0.03	C:0.20	-	-	-	-	-	-	-	-
.	3:158450079-158450080	CCCCGGGGC	ENSG00000118855	ENST00000491804	Transcript	upstream_gene_variant	-	-	-	-	-	rs7621322	66	1	MFSD1	HGNC	-	protein_coding	-	-	-	-	-	C:0.2020	C:0.42	C:0.18	C:0.03	C:0.20	-	-	-	-	-	-	-	-
.	3:158450079-158450080	CCCCGGGGC	ENSG00000118849	ENST00000237696	Transcript	frameshift_variant,feature_elongation	406	125	42	-	-	rs7621322	-	-1	RARRES1	HGNC	9867	protein_coding	-	-	Low_complexity_(Seg):Seg,PIRSF_domain:PIRSF011132	ENST00000237696.5:c.125delAinsGCCCCGGGG	ENSP00000237696.5:p.Asp42GlyfsTer105	C:0.2020	C:0.42	C:0.18	C:0.03	C:0.20	-	-	-	-	-	-	-	-
.	3:158450079-158450080	CCCCGGGGC	ENSG00000118849	ENST00000479756	Transcript	frameshift_variant,feature_elongation	152	125	42	-	-	rs7621322	-	-1	RARRES1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000479756.1:c.125delAinsGCCCCGGGG	ENSP00000418556.1:p.Asp42GlyfsTer105	C:0.2020	C:0.42	C:0.18	C:0.03	C:0.20	-	-	-	-	-	-	-	-
.	3:158450079-158450080	CCCCGGGGC	-	ENSR00001377940	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs7621322	-	-	-	-	-	-	-	-	-	-	-	C:0.2020	C:0.42	C:0.18	C:0.03	C:0.20	-	-	-	-	-	-	-	-
.	3:195506253-195506303	GT	ENSG00000145113	ENST00000339251	Transcript	upstream_gene_variant	-	-	-	-	-	-	573	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195506253-195506303	GT	ENSG00000145113	ENST00000448861	Transcript	upstream_gene_variant	-	-	-	-	-	-	573	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195506253-195506303	GT	ENSG00000145113	ENST00000470451	Transcript	NMD_transcript_variant,feature_truncation	12220-12269	12148-12197	4050-4066	PVTNASSLSTGHATPLH/T	CCTGTCACCAATGCTTCCTCATTATCCACAGGTCACGCCACCCCTCTTCAt/ACt	-	-	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000470451.1:c.12148_12197delCCTGTCACCAATGCTTCCTCATTATCCACAGGTCACGCCACCCCTCTTCAinsAC	ENSP00000420439.1:p.Pro4050_His4066delinsThr	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195506253-195506303	GT	ENSG00000145113	ENST00000308466	Transcript	upstream_gene_variant	-	-	-	-	-	-	573	-1	MUC4	HGNC	7514	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195506253-195506303	GT	ENSG00000145113	ENST00000415455	Transcript	upstream_gene_variant	-	-	-	-	-	-	573	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195506253-195506303	GT	ENSG00000145113	ENST00000463781	Transcript	feature_truncation	12608-12657	12148-12197	4050-4066	PVTNASSLSTGHATPLH/T	CCTGTCACCAATGCTTCCTCATTATCCACAGGTCACGCCACCCCTCTTCAt/ACt	-	-	-1	MUC4	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000463781.3:c.12148_12197delCCTGTCACCAATGCTTCCTCATTATCCACAGGTCACGCCACCCCTCTTCAinsAC	ENSP00000417498.3:p.Pro4050_His4066delinsThr	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195506253-195506303	GT	ENSG00000145113	ENST00000477086	Transcript	NMD_transcript_variant,feature_truncation	12220-12269	12148-12197	4050-4066	PVTNASSLSTGHATPLH/T	CCTGTCACCAATGCTTCCTCATTATCCACAGGTCACGCCACCCCTCTTCAt/ACt	-	-	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000477086.1:c.12148_12197delCCTGTCACCAATGCTTCCTCATTATCCACAGGTCACGCCACCCCTCTTCAinsAC	ENSP00000419989.1:p.Pro4050_His4066delinsThr	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195506253-195506303	GT	ENSG00000145113	ENST00000392407	Transcript	upstream_gene_variant	-	-	-	-	-	-	573	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195506253-195506303	GT	ENSG00000145113	ENST00000346145	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	MUC4	HGNC	-	protein_coding	-	-	-	ENST00000346145.4:c.83-977_83-928delCCTGTCACCAATGCTTCCTCATTATCCACAGGTCACGCCACCCCTCTTCAinsAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195506253-195506303	GT	ENSG00000145113	ENST00000466475	Transcript	NMD_transcript_variant,feature_truncation	12220-12269	12148-12197	4050-4066	PVTNASSLSTGHATPLH/T	CCTGTCACCAATGCTTCCTCATTATCCACAGGTCACGCCACCCCTCTTCAt/ACt	-	-	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000466475.1:c.12148_12197delCCTGTCACCAATGCTTCCTCATTATCCACAGGTCACGCCACCCCTCTTCAinsAC	ENSP00000417722.1:p.Pro4050_His4066delinsThr	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195506253-195506303	GT	ENSG00000145113	ENST00000478156	Transcript	NMD_transcript_variant,feature_truncation	12220-12269	12148-12197	4050-4066	PVTNASSLSTGHATPLH/T	CCTGTCACCAATGCTTCCTCATTATCCACAGGTCACGCCACCCCTCTTCAt/ACt	-	-	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000478156.1:c.12148_12197delCCTGTCACCAATGCTTCCTCATTATCCACAGGTCACGCCACCCCTCTTCAinsAC	ENSP00000419798.1:p.Pro4050_His4066delinsThr	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195506253-195506303	GT	ENSG00000145113	ENST00000479406	Transcript	NMD_transcript_variant,feature_truncation	12220-12269	12148-12197	4050-4066	PVTNASSLSTGHATPLH/T	CCTGTCACCAATGCTTCCTCATTATCCACAGGTCACGCCACCCCTCTTCAt/ACt	-	-	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000479406.1:c.12148_12197delCCTGTCACCAATGCTTCCTCATTATCCACAGGTCACGCCACCCCTCTTCAinsAC	ENSP00000417757.1:p.Pro4050_His4066delinsThr	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195506253-195506303	GT	ENSG00000145113	ENST00000349607	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	MUC4	HGNC	-	protein_coding	-	-	-	ENST00000349607.4:c.83-5127_83-5078delCCTGTCACCAATGCTTCCTCATTATCCACAGGTCACGCCACCCCTCTTCAinsAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195506253-195506303	GT	ENSG00000145113	ENST00000477756	Transcript	NMD_transcript_variant,feature_truncation	12220-12269	12148-12197	4050-4066	PVTNASSLSTGHATPLH/T	CCTGTCACCAATGCTTCCTCATTATCCACAGGTCACGCCACCCCTCTTCAt/ACt	-	-	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000477756.1:c.12148_12197delCCTGTCACCAATGCTTCCTCATTATCCACAGGTCACGCCACCCCTCTTCAinsAC	ENSP00000418306.1:p.Pro4050_His4066delinsThr	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195506253-195506303	GT	ENSG00000145113	ENST00000475231	Transcript	feature_truncation	12220-12269	12148-12197	4050-4066	PVTNASSLSTGHATPLH/T	CCTGTCACCAATGCTTCCTCATTATCCACAGGTCACGCCACCCCTCTTCAt/ACt	-	-	-1	MUC4	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000475231.1:c.12148_12197delCCTGTCACCAATGCTTCCTCATTATCCACAGGTCACGCCACCCCTCTTCAinsAC	ENSP00000420243.1:p.Pro4050_His4066delinsThr	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195506253-195506303	GT	ENSG00000145113	ENST00000462323	Transcript	NMD_transcript_variant,feature_truncation	12220-12269	12148-12197	4050-4066	PVTNASSLSTGHATPLH/T	CCTGTCACCAATGCTTCCTCATTATCCACAGGTCACGCCACCCCTCTTCAt/ACt	-	-	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000462323.1:c.12148_12197delCCTGTCACCAATGCTTCCTCATTATCCACAGGTCACGCCACCCCTCTTCAinsAC	ENSP00000417397.1:p.Pro4050_His4066delinsThr	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195506253-195506303	GT	ENSG00000145113	ENST00000480843	Transcript	NMD_transcript_variant,feature_truncation	12220-12269	12148-12197	4050-4066	PVTNASSLSTGHATPLH/T	CCTGTCACCAATGCTTCCTCATTATCCACAGGTCACGCCACCCCTCTTCAt/ACt	-	-	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000480843.1:c.12148_12197delCCTGTCACCAATGCTTCCTCATTATCCACAGGTCACGCCACCCCTCTTCAinsAC	ENSP00000417657.1:p.Pro4050_His4066delinsThr	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509813-195509861	-	ENSG00000145113	ENST00000339251	Transcript	upstream_gene_variant	-	-	-	-	-	-	4133	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509813-195509861	-	ENSG00000145113	ENST00000448861	Transcript	upstream_gene_variant	-	-	-	-	-	-	4133	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509813-195509861	-	ENSG00000145113	ENST00000470451	Transcript	inframe_deletion,NMD_transcript_variant	8662-8709	8590-8637	2864-2879	SLPVTDASSVSTGHAT/-	TCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCACC/-	-	-	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000470451.1:c.8590_8637delTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCACC	ENSP00000420439.1:p.Ser2864_Thr2879del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509813-195509861	-	ENSG00000145113	ENST00000308466	Transcript	upstream_gene_variant	-	-	-	-	-	-	4133	-1	MUC4	HGNC	7514	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509813-195509861	-	ENSG00000145113	ENST00000415455	Transcript	upstream_gene_variant	-	-	-	-	-	-	4133	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509813-195509861	-	ENSG00000145113	ENST00000463781	Transcript	inframe_deletion	9050-9097	8590-8637	2864-2879	SLPVTDASSVSTGHAT/-	TCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCACC/-	-	-	-1	MUC4	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000463781.3:c.8590_8637delTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCACC	ENSP00000417498.3:p.Ser2864_Thr2879del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509813-195509861	-	ENSG00000145113	ENST00000477086	Transcript	inframe_deletion,NMD_transcript_variant	8662-8709	8590-8637	2864-2879	SLPVTDASSVSTGHAT/-	TCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCACC/-	-	-	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000477086.1:c.8590_8637delTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCACC	ENSP00000419989.1:p.Ser2864_Thr2879del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509813-195509861	-	ENSG00000145113	ENST00000392407	Transcript	upstream_gene_variant	-	-	-	-	-	-	4133	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509813-195509861	-	ENSG00000145113	ENST00000346145	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	MUC4	HGNC	-	protein_coding	-	-	-	ENST00000346145.4:c.83-4535_83-4488delTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCACC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509813-195509861	-	ENSG00000145113	ENST00000466475	Transcript	inframe_deletion,NMD_transcript_variant	8662-8709	8590-8637	2864-2879	SLPVTDASSVSTGHAT/-	TCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCACC/-	-	-	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000466475.1:c.8590_8637delTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCACC	ENSP00000417722.1:p.Ser2864_Thr2879del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509813-195509861	-	ENSG00000145113	ENST00000478156	Transcript	inframe_deletion,NMD_transcript_variant	8662-8709	8590-8637	2864-2879	SLPVTDASSVSTGHAT/-	TCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCACC/-	-	-	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000478156.1:c.8590_8637delTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCACC	ENSP00000419798.1:p.Ser2864_Thr2879del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509813-195509861	-	ENSG00000145113	ENST00000479406	Transcript	inframe_deletion,NMD_transcript_variant	8662-8709	8590-8637	2864-2879	SLPVTDASSVSTGHAT/-	TCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCACC/-	-	-	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000479406.1:c.8590_8637delTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCACC	ENSP00000417757.1:p.Ser2864_Thr2879del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509813-195509861	-	ENSG00000145113	ENST00000349607	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	MUC4	HGNC	-	protein_coding	-	-	-	ENST00000349607.4:c.83-8685_83-8638delTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCACC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509813-195509861	-	ENSG00000145113	ENST00000477756	Transcript	inframe_deletion,NMD_transcript_variant	8662-8709	8590-8637	2864-2879	SLPVTDASSVSTGHAT/-	TCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCACC/-	-	-	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000477756.1:c.8590_8637delTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCACC	ENSP00000418306.1:p.Ser2864_Thr2879del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509813-195509861	-	ENSG00000145113	ENST00000475231	Transcript	inframe_deletion	8662-8709	8590-8637	2864-2879	SLPVTDASSVSTGHAT/-	TCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCACC/-	-	-	-1	MUC4	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000475231.1:c.8590_8637delTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCACC	ENSP00000420243.1:p.Ser2864_Thr2879del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509813-195509861	-	ENSG00000145113	ENST00000462323	Transcript	inframe_deletion,NMD_transcript_variant	8662-8709	8590-8637	2864-2879	SLPVTDASSVSTGHAT/-	TCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCACC/-	-	-	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000462323.1:c.8590_8637delTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCACC	ENSP00000417397.1:p.Ser2864_Thr2879del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509813-195509861	-	ENSG00000145113	ENST00000480843	Transcript	inframe_deletion,NMD_transcript_variant	8662-8709	8590-8637	2864-2879	SLPVTDASSVSTGHAT/-	TCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCACC/-	-	-	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000480843.1:c.8590_8637delTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCACC	ENSP00000417657.1:p.Ser2864_Thr2879del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509816-195509865	A	ENSG00000145113	ENST00000339251	Transcript	upstream_gene_variant	-	-	-	-	-	-	4136	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509816-195509865	A	ENSG00000145113	ENST00000448861	Transcript	upstream_gene_variant	-	-	-	-	-	-	4136	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509816-195509865	A	ENSG00000145113	ENST00000470451	Transcript	NMD_transcript_variant,feature_truncation	8658-8706	8586-8634	2862-2878	ATSLPVTDASSVSTGHA/A	gcCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCC/gcT	-	-	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000470451.1:c.8586_8634delCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCinsT	ENSP00000420439.1:p.Thr2863_Ala2878del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509816-195509865	A	ENSG00000145113	ENST00000308466	Transcript	upstream_gene_variant	-	-	-	-	-	-	4136	-1	MUC4	HGNC	7514	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509816-195509865	A	ENSG00000145113	ENST00000415455	Transcript	upstream_gene_variant	-	-	-	-	-	-	4136	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509816-195509865	A	ENSG00000145113	ENST00000463781	Transcript	feature_truncation	9046-9094	8586-8634	2862-2878	ATSLPVTDASSVSTGHA/A	gcCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCC/gcT	-	-	-1	MUC4	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000463781.3:c.8586_8634delCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCinsT	ENSP00000417498.3:p.Thr2863_Ala2878del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509816-195509865	A	ENSG00000145113	ENST00000477086	Transcript	NMD_transcript_variant,feature_truncation	8658-8706	8586-8634	2862-2878	ATSLPVTDASSVSTGHA/A	gcCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCC/gcT	-	-	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000477086.1:c.8586_8634delCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCinsT	ENSP00000419989.1:p.Thr2863_Ala2878del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509816-195509865	A	ENSG00000145113	ENST00000392407	Transcript	upstream_gene_variant	-	-	-	-	-	-	4136	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509816-195509865	A	ENSG00000145113	ENST00000346145	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	MUC4	HGNC	-	protein_coding	-	-	-	ENST00000346145.4:c.83-4539_83-4491delCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509816-195509865	A	ENSG00000145113	ENST00000466475	Transcript	NMD_transcript_variant,feature_truncation	8658-8706	8586-8634	2862-2878	ATSLPVTDASSVSTGHA/A	gcCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCC/gcT	-	-	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000466475.1:c.8586_8634delCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCinsT	ENSP00000417722.1:p.Thr2863_Ala2878del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509816-195509865	A	ENSG00000145113	ENST00000478156	Transcript	NMD_transcript_variant,feature_truncation	8658-8706	8586-8634	2862-2878	ATSLPVTDASSVSTGHA/A	gcCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCC/gcT	-	-	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000478156.1:c.8586_8634delCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCinsT	ENSP00000419798.1:p.Thr2863_Ala2878del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509816-195509865	A	ENSG00000145113	ENST00000479406	Transcript	NMD_transcript_variant,feature_truncation	8658-8706	8586-8634	2862-2878	ATSLPVTDASSVSTGHA/A	gcCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCC/gcT	-	-	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000479406.1:c.8586_8634delCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCinsT	ENSP00000417757.1:p.Thr2863_Ala2878del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509816-195509865	A	ENSG00000145113	ENST00000349607	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	MUC4	HGNC	-	protein_coding	-	-	-	ENST00000349607.4:c.83-8689_83-8641delCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509816-195509865	A	ENSG00000145113	ENST00000477756	Transcript	NMD_transcript_variant,feature_truncation	8658-8706	8586-8634	2862-2878	ATSLPVTDASSVSTGHA/A	gcCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCC/gcT	-	-	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000477756.1:c.8586_8634delCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCinsT	ENSP00000418306.1:p.Thr2863_Ala2878del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509816-195509865	A	ENSG00000145113	ENST00000475231	Transcript	feature_truncation	8658-8706	8586-8634	2862-2878	ATSLPVTDASSVSTGHA/A	gcCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCC/gcT	-	-	-1	MUC4	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000475231.1:c.8586_8634delCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCinsT	ENSP00000420243.1:p.Thr2863_Ala2878del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509816-195509865	A	ENSG00000145113	ENST00000462323	Transcript	NMD_transcript_variant,feature_truncation	8658-8706	8586-8634	2862-2878	ATSLPVTDASSVSTGHA/A	gcCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCC/gcT	-	-	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000462323.1:c.8586_8634delCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCinsT	ENSP00000417397.1:p.Thr2863_Ala2878del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509816-195509865	A	ENSG00000145113	ENST00000480843	Transcript	NMD_transcript_variant,feature_truncation	8658-8706	8586-8634	2862-2878	ATSLPVTDASSVSTGHA/A	gcCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCC/gcT	-	-	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000480843.1:c.8586_8634delCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCATGCCinsT	ENSP00000417657.1:p.Thr2863_Ala2878del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509914-195509964	CG	ENSG00000145113	ENST00000339251	Transcript	upstream_gene_variant	-	-	-	-	-	-	4234	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509914-195509964	CG	ENSG00000145113	ENST00000448861	Transcript	upstream_gene_variant	-	-	-	-	-	-	4234	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509914-195509964	CG	ENSG00000145113	ENST00000470451	Transcript	NMD_transcript_variant,feature_truncation	8559-8608	8487-8536	2829-2846	HATSLPVTIPSSASSGHT/HA	caTGCCACCTCTCTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTCACAcc/caCGcc	-	-	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000470451.1:c.8487_8536delTGCCACCTCTCTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTCACAinsCG	ENSP00000420439.1:p.Thr2831_Thr2846del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509914-195509964	CG	ENSG00000145113	ENST00000308466	Transcript	upstream_gene_variant	-	-	-	-	-	-	4234	-1	MUC4	HGNC	7514	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509914-195509964	CG	ENSG00000145113	ENST00000415455	Transcript	upstream_gene_variant	-	-	-	-	-	-	4234	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509914-195509964	CG	ENSG00000145113	ENST00000463781	Transcript	feature_truncation	8947-8996	8487-8536	2829-2846	HATSLPVTIPSSASSGHT/HA	caTGCCACCTCTCTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTCACAcc/caCGcc	-	-	-1	MUC4	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000463781.3:c.8487_8536delTGCCACCTCTCTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTCACAinsCG	ENSP00000417498.3:p.Thr2831_Thr2846del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509914-195509964	CG	ENSG00000145113	ENST00000477086	Transcript	NMD_transcript_variant,feature_truncation	8559-8608	8487-8536	2829-2846	HATSLPVTIPSSASSGHT/HA	caTGCCACCTCTCTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTCACAcc/caCGcc	-	-	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000477086.1:c.8487_8536delTGCCACCTCTCTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTCACAinsCG	ENSP00000419989.1:p.Thr2831_Thr2846del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509914-195509964	CG	ENSG00000145113	ENST00000392407	Transcript	upstream_gene_variant	-	-	-	-	-	-	4234	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509914-195509964	CG	ENSG00000145113	ENST00000346145	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	MUC4	HGNC	-	protein_coding	-	-	-	ENST00000346145.4:c.83-4638_83-4589delTGCCACCTCTCTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTCACAinsCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509914-195509964	CG	ENSG00000145113	ENST00000466475	Transcript	NMD_transcript_variant,feature_truncation	8559-8608	8487-8536	2829-2846	HATSLPVTIPSSASSGHT/HA	caTGCCACCTCTCTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTCACAcc/caCGcc	-	-	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000466475.1:c.8487_8536delTGCCACCTCTCTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTCACAinsCG	ENSP00000417722.1:p.Thr2831_Thr2846del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509914-195509964	CG	ENSG00000145113	ENST00000478156	Transcript	NMD_transcript_variant,feature_truncation	8559-8608	8487-8536	2829-2846	HATSLPVTIPSSASSGHT/HA	caTGCCACCTCTCTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTCACAcc/caCGcc	-	-	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000478156.1:c.8487_8536delTGCCACCTCTCTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTCACAinsCG	ENSP00000419798.1:p.Thr2831_Thr2846del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509914-195509964	CG	ENSG00000145113	ENST00000479406	Transcript	NMD_transcript_variant,feature_truncation	8559-8608	8487-8536	2829-2846	HATSLPVTIPSSASSGHT/HA	caTGCCACCTCTCTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTCACAcc/caCGcc	-	-	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000479406.1:c.8487_8536delTGCCACCTCTCTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTCACAinsCG	ENSP00000417757.1:p.Thr2831_Thr2846del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509914-195509964	CG	ENSG00000145113	ENST00000349607	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	MUC4	HGNC	-	protein_coding	-	-	-	ENST00000349607.4:c.83-8788_83-8739delTGCCACCTCTCTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTCACAinsCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509914-195509964	CG	ENSG00000145113	ENST00000477756	Transcript	NMD_transcript_variant,feature_truncation	8559-8608	8487-8536	2829-2846	HATSLPVTIPSSASSGHT/HA	caTGCCACCTCTCTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTCACAcc/caCGcc	-	-	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000477756.1:c.8487_8536delTGCCACCTCTCTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTCACAinsCG	ENSP00000418306.1:p.Thr2831_Thr2846del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509914-195509964	CG	ENSG00000145113	ENST00000475231	Transcript	feature_truncation	8559-8608	8487-8536	2829-2846	HATSLPVTIPSSASSGHT/HA	caTGCCACCTCTCTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTCACAcc/caCGcc	-	-	-1	MUC4	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000475231.1:c.8487_8536delTGCCACCTCTCTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTCACAinsCG	ENSP00000420243.1:p.Thr2831_Thr2846del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509914-195509964	CG	ENSG00000145113	ENST00000462323	Transcript	NMD_transcript_variant,feature_truncation	8559-8608	8487-8536	2829-2846	HATSLPVTIPSSASSGHT/HA	caTGCCACCTCTCTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTCACAcc/caCGcc	-	-	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000462323.1:c.8487_8536delTGCCACCTCTCTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTCACAinsCG	ENSP00000417397.1:p.Thr2831_Thr2846del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	3:195509914-195509964	CG	ENSG00000145113	ENST00000480843	Transcript	NMD_transcript_variant,feature_truncation	8559-8608	8487-8536	2829-2846	HATSLPVTIPSSASSGHT/HA	caTGCCACCTCTCTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTCACAcc/caCGcc	-	-	-1	MUC4	HGNC	-	nonsense_mediated_decay	-	-	PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000480843.1:c.8487_8536delTGCCACCTCTCTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTCACAinsCG	ENSP00000417657.1:p.Thr2831_Thr2846del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:1087327-1087329	CTGCCCAGGCTGGAGCCAGCCAT	ENSG00000178222	ENST00000454487	Transcript	downstream_gene_variant	-	-	-	-	-	-	2922	-1	RNF212	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:1087327-1087329	CTGCCCAGGCTGGAGCCAGCCAT	ENSG00000178222	ENST00000508428	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	RNF212	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000508428.1:c.*26-2703_*26-2702delGTinsATGGCTGGCTCCAGCCTGGGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:1087327-1087329	CTGCCCAGGCTGGAGCCAGCCAT	ENSG00000178222	ENST00000433731	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	RNF212	HGNC	-	protein_coding	-	-	-	ENST00000433731.2:c.247-2703_247-2702delGTinsATGGCTGGCTCCAGCCTGGGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:1087327-1087329	CTGCCCAGGCTGGAGCCAGCCAT	ENSG00000178222	ENST00000511620	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	RNF212	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511620.1:c.247-2703_247-2702delGTinsATGGCTGGCTCCAGCCTGGGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:1087327-1087329	CTGCCCAGGCTGGAGCCAGCCAT	ENSG00000178222	ENST00000510715	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	RNF212	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000510715.1:c.*111-2703_*111-2702delGTinsATGGCTGGCTCCAGCCTGGGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:1087327-1087329	CTGCCCAGGCTGGAGCCAGCCAT	ENSG00000178222	ENST00000506730	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	RNF212	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000506730.1:c.*26-2703_*26-2702delGTinsATGGCTGGCTCCAGCCTGGGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:1087327-1087329	CTGCCCAGGCTGGAGCCAGCCAT	ENSG00000178222	ENST00000512552	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	RNF212	HGNC	-	retained_intron	-	-	-	ENST00000512552.1:n.221-2703_221-2702delGTinsATGGCTGGCTCCAGCCTGGGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:1087327-1087329	CTGCCCAGGCTGGAGCCAGCCAT	ENSG00000178222	ENST00000382968	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	RNF212	HGNC	-	protein_coding	-	-	-	ENST00000382968.5:c.247-2703_247-2702delGTinsATGGCTGGCTCCAGCCTGGGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:1087327-1087329	CTGCCCAGGCTGGAGCCAGCCAT	ENSG00000178222	ENST00000333673	Transcript	inframe_insertion	786-787	720-721	240-241	RS/RWLAPAWAA	agGTca/agATGGCTGGCTCCAGCCTGGGCAGca	-	-	-1	RNF212	HGNC	-	protein_coding	-	-	-	ENST00000333673.5:c.720_721delGTinsATGGCTGGCTCCAGCCTGGGCAG	ENSP00000327481.5:p.Ser241delinsTrpLeuAlaProAlaTrpAlaAla	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:1087327	CTGCCCAGGCTGGAGCCAGCC	ENSG00000178222	ENST00000454487	Transcript	downstream_gene_variant	-	-	-	-	-	rs138488801	2923	-1	RNF212	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:1087327	CTGCCCAGGCTGGAGCCAGCC	ENSG00000178222	ENST00000508428	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	rs138488801	-	-1	RNF212	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000508428.1:c.*26-2702_*26-2701insGGCTGGCTCCAGCCTGGGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:1087327	CTGCCCAGGCTGGAGCCAGCC	ENSG00000178222	ENST00000433731	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs138488801	-	-1	RNF212	HGNC	-	protein_coding	-	-	-	ENST00000433731.2:c.247-2702_247-2701insGGCTGGCTCCAGCCTGGGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:1087327	CTGCCCAGGCTGGAGCCAGCC	ENSG00000178222	ENST00000511620	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	rs138488801	-	-1	RNF212	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511620.1:c.247-2702_247-2701insGGCTGGCTCCAGCCTGGGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:1087327	CTGCCCAGGCTGGAGCCAGCC	ENSG00000178222	ENST00000510715	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	rs138488801	-	-1	RNF212	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000510715.1:c.*111-2702_*111-2701insGGCTGGCTCCAGCCTGGGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:1087327	CTGCCCAGGCTGGAGCCAGCC	ENSG00000178222	ENST00000506730	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	rs138488801	-	-1	RNF212	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000506730.1:c.*26-2702_*26-2701insGGCTGGCTCCAGCCTGGGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:1087327	CTGCCCAGGCTGGAGCCAGCC	ENSG00000178222	ENST00000512552	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	rs138488801	-	-1	RNF212	HGNC	-	retained_intron	-	-	-	ENST00000512552.1:n.221-2702_221-2701insGGCTGGCTCCAGCCTGGGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:1087327	CTGCCCAGGCTGGAGCCAGCC	ENSG00000178222	ENST00000382968	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs138488801	-	-1	RNF212	HGNC	-	protein_coding	-	-	-	ENST00000382968.5:c.247-2702_247-2701insGGCTGGCTCCAGCCTGGGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:1087327	CTGCCCAGGCTGGAGCCAGCC	ENSG00000178222	ENST00000333673	Transcript	inframe_insertion	787-788	721-722	241	S/WLAPAWAA	tca/tGGCTGGCTCCAGCCTGGGCAGca	rs138488801	-	-1	RNF212	HGNC	-	protein_coding	-	-	-	ENST00000333673.5:c.721_722insGGCTGGCTCCAGCCTGGGCAG	ENSP00000327481.5:p.Ser241delinsTrpLeuAlaProAlaTrpAlaAla	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:40428009-40428014	CGGCGGCCGCGGCT	ENSG00000163694	ENST00000510871	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	2635-2639	-	-	-	-	-	-	-1	RBM47	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000510871.1:c.*745_*749delCGCCAinsAGCCGCGGCCGCCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:40428009-40428014	CGGCGGCCGCGGCT	ENSG00000250893	ENST00000514187	Transcript	upstream_gene_variant	-	-	-	-	-	-	122	1	RP11-588L15.2	Clone_based_vega_gene	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:40428009-40428014	CGGCGGCCGCGGCT	ENSG00000163694	ENST00000514014	Transcript	inframe_insertion	1834-1838	1575-1579	525-527	AAM/AAAAAV	gcCGCCAtg/gcAGCCGCGGCCGCCGtg	-	-	-1	RBM47	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50310,TIGRFAM_domain:TIGR01648	ENST00000514014.1:c.1575_1579delCGCCAinsAGCCGCGGCCGCCG	ENSP00000423243.1:p.Met527delinsAlaAlaAlaVal	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:40428009-40428014	CGGCGGCCGCGGCT	ENSG00000163694	ENST00000381795	Transcript	inframe_insertion	1743-1747	1482-1486	494-496	AAM/AAAAAV	gcCGCCAtg/gcAGCCGCGGCCGCCGtg	-	-	-1	RBM47	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50310	ENST00000381795.6:c.1482_1486delCGCCAinsAGCCGCGGCCGCCG	ENSP00000371214.6:p.Met496delinsAlaAlaAlaVal	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:40428009-40428014	CGGCGGCCGCGGCT	ENSG00000163694	ENST00000381793	Transcript	inframe_insertion	2086-2090	1689-1693	563-565	AAM/AAAAAV	gcCGCCAtg/gcAGCCGCGGCCGCCGtg	-	-	-1	RBM47	HGNC	30358	protein_coding	-	-	Low_complexity_(Seg):Seg,TIGRFAM_domain:TIGR01648,PROSITE_profiles:PS50310	ENST00000381793.2:c.1689_1693delCGCCAinsAGCCGCGGCCGCCG	ENSP00000371212.2:p.Met565delinsAlaAlaAlaVal	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:40428009-40428014	CGGCGGCCGCGGCT	ENSG00000163694	ENST00000319592	Transcript	inframe_insertion	2192-2196	1482-1486	494-496	AAM/AAAAAV	gcCGCCAtg/gcAGCCGCGGCCGCCGtg	-	-	-1	RBM47	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50310	ENST00000319592.4:c.1482_1486delCGCCAinsAGCCGCGGCCGCCG	ENSP00000320108.4:p.Met496delinsAlaAlaAlaVal	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:40428009-40428014	CGGCGGCCGCGGCT	ENSG00000163694	ENST00000295971	Transcript	inframe_insertion	2397-2401	1689-1693	563-565	AAM/AAAAAV	gcCGCCAtg/gcAGCCGCGGCCGCCGtg	-	-	-1	RBM47	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50310,TIGRFAM_domain:TIGR01648	ENST00000295971.7:c.1689_1693delCGCCAinsAGCCGCGGCCGCCG	ENSP00000295971.7:p.Met565delinsAlaAlaAlaVal	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:76481342-76481348	ATGCTGGTTACTGGTA	ENSG00000174792	ENST00000435974	Transcript	frameshift_variant,feature_elongation	69-74	51-56	17-19	-	-	-	-	1	C4orf26	HGNC	-	protein_coding	-	-	Cleavage_site_(Signalp):Sigp,Transmembrane_helices:Tmhmm	ENST00000435974.2:c.51_56delGGTAACinsATGCTGGTTACTGGTA	ENSP00000406925.2:p.Val18CysfsTer20	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:76481342-76481348	ATGCTGGTTACTGGTA	ENSG00000174792	ENST00000311623	Transcript	frameshift_variant,feature_elongation	86-91	51-56	17-19	-	-	-	-	1	C4orf26	HGNC	-	protein_coding	-	-	Cleavage_site_(Signalp):Sigp	ENST00000311623.4:c.51_56delGGTAACinsATGCTGGTTACTGGTA	ENSP00000311307.4:p.Val18CysfsTer23	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:76481342-76481348	ATGCTGGTTACTGGTA	ENSG00000174792	ENST00000511093	Transcript	frameshift_variant,NMD_transcript_variant,feature_elongation	86-91	51-56	17-19	-	-	-	-	1	C4orf26	HGNC	-	nonsense_mediated_decay	-	-	Cleavage_site_(Signalp):Sigp,Transmembrane_helices:Tmhmm,Prints_domain:PR02045	ENST00000511093.1:c.51_56delGGTAACinsATGCTGGTTACTGGTA	ENSP00000421429.1:p.Val18CysfsTer17	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:76481342-76481348	ATGCTGGTTACTGGTA	ENSG00000174792	ENST00000514064	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	86-91	-	-	-	-	-	-	1	C4orf26	HGNC	26300	processed_transcript	-	-	-	ENST00000514064.1:n.86_91delGGTAACinsATGCTGGTTACTGGTA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:76481342-76481348	ATGCTGGTTACTGGTA	-	ENSR00001432188	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:88537210-88537212	AGTGA	ENSG00000152591	ENST00000282478	Transcript	inframe_insertion	3430-3431	3397-3398	1133	S/SD	AGt/AGTGAt	-	-	1	DSPP	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50312,PROSITE_profiles:PS50324	ENST00000282478.7:c.3397_3398delAGinsAGTGA	ENSP00000282478.7:p.Ser1133_Asp1134insAsp	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:88537210-88537212	AGTGA	ENSG00000249001	ENST00000506480	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	RP11-742B18.1	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000506480.1:n.323-47527_323-47526delCTinsTCACT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:88537210-88537212	AGTGA	ENSG00000152591	ENST00000399271	Transcript	inframe_insertion	3517-3518	3397-3398	1133	S/SD	AGt/AGTGAt	-	-	1	DSPP	HGNC	3054	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50312,PROSITE_profiles:PS50324	ENST00000399271.1:c.3397_3398delAGinsAGTGA	ENSP00000382213.1:p.Ser1133_Asp1134insAsp	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:88537212-88537261	CGAT	ENSG00000152591	ENST00000282478	Transcript	feature_truncation	3432-3480	3399-3447	1133-1149	SDSSDSSNSSDSSDSSE/SD	agTGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGACAGCAGTGAA/agCGAT	-	-	1	DSPP	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50312,PROSITE_profiles:PS50324	ENST00000282478.7:c.3399_3447delTGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGACAGCAGTGAAinsCGAT	ENSP00000282478.7:p.Ser1135_Glu1149del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:88537212-88537261	CGAT	ENSG00000249001	ENST00000506480	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	-1	RP11-742B18.1	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000506480.1:n.323-47576_323-47528delTTCACTGCTGTCACTGCTGTCACTGCTGTTGCTGCTGTCACTGCTATCAinsATCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:88537212-88537261	CGAT	ENSG00000152591	ENST00000399271	Transcript	feature_truncation	3519-3567	3399-3447	1133-1149	SDSSDSSNSSDSSDSSE/SD	agTGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGACAGCAGTGAA/agCGAT	-	-	1	DSPP	HGNC	3054	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50312,PROSITE_profiles:PS50324	ENST00000399271.1:c.3399_3447delTGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGACAGCAGTGAAinsCGAT	ENSP00000382213.1:p.Ser1135_Glu1149del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:100451038-100451051	A	ENSG00000138813	ENST00000503257	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	467-479	-	-	-	-	-	-	1	C4orf17	HGNC	-	processed_transcript	-	-	-	ENST00000503257.1:n.467_479delCAGGGATGACAAGinsA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:100451038-100451051	A	ENSG00000138813	ENST00000477187	Transcript	NMD_transcript_variant,feature_truncation	824-836	470-482	157-161	SGMTS/Y	tCAGGGATGACAAGt/tAt	-	-	1	C4orf17	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000477187.1:c.470_482delCAGGGATGACAAGinsA	ENSP00000423411.1:p.Ser157_Ser161delinsTyr	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:100451038-100451051	A	ENSG00000138813	ENST00000326581	Transcript	feature_truncation	832-844	470-482	157-161	SGMTS/Y	tCAGGGATGACAAGt/tAt	-	-	1	C4orf17	HGNC	25274	protein_coding	-	-	-	ENST00000326581.4:c.470_482delCAGGGATGACAAGinsA	ENSP00000322582.4:p.Ser157_Ser161delinsTyr	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:100451038-100451051	A	ENSG00000138813	ENST00000514652	Transcript	feature_truncation	824-836	470-482	157-161	SGMTS/Y	tCAGGGATGACAAGt/tAt	-	-	1	C4orf17	HGNC	-	protein_coding	-	-	-	ENST00000514652.1:c.470_482delCAGGGATGACAAGinsA	ENSP00000427663.1:p.Ser157_Ser161delinsTyr	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:100451038-100451050	-	ENSG00000138813	ENST00000503257	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	467-478	-	-	-	-	TMP_ESP_4_100451039_100451050	-	1	C4orf17	HGNC	-	processed_transcript	-	-	-	ENST00000503257.1:n.467_478delCAGGGATGACAA	-	-	-	-	-	-	-:0.066370	-:0.000969	-	-	-	-	-	-
.	4:100451038-100451050	-	ENSG00000138813	ENST00000477187	Transcript	inframe_deletion,NMD_transcript_variant	824-835	470-481	157-161	SGMTS/C	tCAGGGATGACAAgt/tgt	TMP_ESP_4_100451039_100451050	-	1	C4orf17	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000477187.1:c.470_481delCAGGGATGACAA	ENSP00000423411.1:p.Ser157_Ser161delinsCys	-	-	-	-	-	-:0.066370	-:0.000969	-	-	-	-	-	-
.	4:100451038-100451050	-	ENSG00000138813	ENST00000326581	Transcript	inframe_deletion	832-843	470-481	157-161	SGMTS/C	tCAGGGATGACAAgt/tgt	TMP_ESP_4_100451039_100451050	-	1	C4orf17	HGNC	25274	protein_coding	-	-	-	ENST00000326581.4:c.470_481delCAGGGATGACAA	ENSP00000322582.4:p.Ser157_Ser161delinsCys	-	-	-	-	-	-:0.066370	-:0.000969	-	-	-	-	-	-
.	4:100451038-100451050	-	ENSG00000138813	ENST00000514652	Transcript	inframe_deletion	824-835	470-481	157-161	SGMTS/C	tCAGGGATGACAAgt/tgt	TMP_ESP_4_100451039_100451050	-	1	C4orf17	HGNC	-	protein_coding	-	-	-	ENST00000514652.1:c.470_481delCAGGGATGACAA	ENSP00000427663.1:p.Ser157_Ser161delinsCys	-	-	-	-	-	-:0.066370	-:0.000969	-	-	-	-	-	-
.	4:140811063-140811096	-	ENSG00000196782	ENST00000509479	Transcript	inframe_deletion	2351-2383	1494-1526	498-509	QQQQQQQQQQQQ/Q	caGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAa/caa	-	-	-1	MAML3	HGNC	16272	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000509479.2:c.1494_1526delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000421180.1:p.Gln499_Gln509del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:140811063-140811096	-	ENSG00000196782	ENST00000502696	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	MAML3	HGNC	-	protein_coding	-	-	-	ENST00000502696.1:c.111-159275_111-159243delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:140811063-140811096	-	ENSG00000196782	ENST00000398940	Transcript	splice_acceptor_variant,coding_sequence_variant,intron_variant,feature_truncation	?-110	?-110	?-37	-	-	-	-	-1	MAML3	HGNC	-	protein_coding	-	-	-	ENST00000398940.1:c.110_108+3delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:140811063-140811096	-	ENSG00000196782	ENST00000327122	Transcript	inframe_deletion	1026-1058	1026-1058	342-353	QQQQQQQQQQQQ/Q	caGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAa/caa	-	-	-1	MAML3	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000327122.5:c.1026_1058delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000313316.5:p.Gln343_Gln353del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:140811063-140811087	-	ENSG00000196782	ENST00000509479	Transcript	inframe_deletion	2360-2383	1503-1526	501-509	QQQQQQQQQ/Q	caGCAGCAGCAGCAGCAGCAGCAGCAa/caa	-	-	-1	MAML3	HGNC	16272	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000509479.2:c.1503_1526delGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000421180.1:p.Gln502_Gln509del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:140811063-140811087	TGCTGCTGCTGC	ENSG00000196782	ENST00000509479	Transcript	inframe_deletion	2360-2383	1503-1526	501-509	QQQQQQQQQ/QQQQQ	caGCAGCAGCAGCAGCAGCAGCAGCAa/caGCAGCAGCAGCAa	-	-	-1	MAML3	HGNC	16272	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000509479.2:c.1503_1526delGCAGCAGCAGCAGCAGCAGCAGCAinsGCAGCAGCAGCA	ENSP00000421180.1:p.Gln506_Gln509del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:140811063-140811087	TGCTGCTGCTGCTGCTGCTGC	ENSG00000196782	ENST00000509479	Transcript	inframe_deletion	2360-2383	1503-1526	501-509	QQQQQQQQQ/QQQQQQQQ	caGCAGCAGCAGCAGCAGCAGCAGCAa/caGCAGCAGCAGCAGCAGCAGCAa	-	-	-1	MAML3	HGNC	16272	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000509479.2:c.1503_1526delGCAGCAGCAGCAGCAGCAGCAGCAinsGCAGCAGCAGCAGCAGCAGCA	ENSP00000421180.1:p.Gln510del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:140811063-140811087	TGCTGCTGCTGCTGCTGC	ENSG00000196782	ENST00000509479	Transcript	inframe_deletion	2360-2383	1503-1526	501-509	QQQQQQQQQ/QQQQQQQ	caGCAGCAGCAGCAGCAGCAGCAGCAa/caGCAGCAGCAGCAGCAGCAa	-	-	-1	MAML3	HGNC	16272	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000509479.2:c.1503_1526delGCAGCAGCAGCAGCAGCAGCAGCAinsGCAGCAGCAGCAGCAGCA	ENSP00000421180.1:p.Gln509_Gln510del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:140811063-140811087	-	ENSG00000196782	ENST00000502696	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	MAML3	HGNC	-	protein_coding	-	-	-	ENST00000502696.1:c.111-159266_111-159243delGCAGCAGCAGCAGCAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:140811063-140811087	TGCTGCTGCTGC	ENSG00000196782	ENST00000502696	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	MAML3	HGNC	-	protein_coding	-	-	-	ENST00000502696.1:c.111-159266_111-159243delGCAGCAGCAGCAGCAGCAGCAGCAinsGCAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:140811063-140811087	TGCTGCTGCTGCTGCTGCTGC	ENSG00000196782	ENST00000502696	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	MAML3	HGNC	-	protein_coding	-	-	-	ENST00000502696.1:c.111-159266_111-159243delGCAGCAGCAGCAGCAGCAGCAGCAinsGCAGCAGCAGCAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:140811063-140811087	TGCTGCTGCTGCTGCTGC	ENSG00000196782	ENST00000502696	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	MAML3	HGNC	-	protein_coding	-	-	-	ENST00000502696.1:c.111-159266_111-159243delGCAGCAGCAGCAGCAGCAGCAGCAinsGCAGCAGCAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:140811063-140811087	-	ENSG00000196782	ENST00000398940	Transcript	splice_acceptor_variant,coding_sequence_variant,intron_variant,feature_truncation	?-110	?-110	?-37	-	-	-	-	-1	MAML3	HGNC	-	protein_coding	-	-	-	ENST00000398940.1:c.110_108+12delGCAGCAGCAGCAGCAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:140811063-140811087	TGCTGCTGCTGC	ENSG00000196782	ENST00000398940	Transcript	splice_acceptor_variant,coding_sequence_variant,intron_variant,feature_truncation	?-110	?-110	?-37	-	-	-	-	-1	MAML3	HGNC	-	protein_coding	-	-	-	ENST00000398940.1:c.110_108+12delGCAGCAGCAGCAGCAGCAGCAGCAinsGCAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:140811063-140811087	TGCTGCTGCTGCTGCTGCTGC	ENSG00000196782	ENST00000398940	Transcript	splice_acceptor_variant,coding_sequence_variant,intron_variant,feature_truncation	?-110	?-110	?-37	-	-	-	-	-1	MAML3	HGNC	-	protein_coding	-	-	-	ENST00000398940.1:c.110_108+12delGCAGCAGCAGCAGCAGCAGCAGCAinsGCAGCAGCAGCAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:140811063-140811087	TGCTGCTGCTGCTGCTGC	ENSG00000196782	ENST00000398940	Transcript	splice_acceptor_variant,coding_sequence_variant,intron_variant,feature_truncation	?-110	?-110	?-37	-	-	-	-	-1	MAML3	HGNC	-	protein_coding	-	-	-	ENST00000398940.1:c.110_108+12delGCAGCAGCAGCAGCAGCAGCAGCAinsGCAGCAGCAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:140811063-140811087	-	ENSG00000196782	ENST00000327122	Transcript	inframe_deletion	1035-1058	1035-1058	345-353	QQQQQQQQQ/Q	caGCAGCAGCAGCAGCAGCAGCAGCAa/caa	-	-	-1	MAML3	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000327122.5:c.1035_1058delGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000313316.5:p.Gln346_Gln353del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:140811063-140811087	TGCTGCTGCTGC	ENSG00000196782	ENST00000327122	Transcript	inframe_deletion	1035-1058	1035-1058	345-353	QQQQQQQQQ/QQQQQ	caGCAGCAGCAGCAGCAGCAGCAGCAa/caGCAGCAGCAGCAa	-	-	-1	MAML3	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000327122.5:c.1035_1058delGCAGCAGCAGCAGCAGCAGCAGCAinsGCAGCAGCAGCA	ENSP00000313316.5:p.Gln350_Gln353del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:140811063-140811087	TGCTGCTGCTGCTGCTGCTGC	ENSG00000196782	ENST00000327122	Transcript	inframe_deletion	1035-1058	1035-1058	345-353	QQQQQQQQQ/QQQQQQQQ	caGCAGCAGCAGCAGCAGCAGCAGCAa/caGCAGCAGCAGCAGCAGCAGCAa	-	-	-1	MAML3	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000327122.5:c.1035_1058delGCAGCAGCAGCAGCAGCAGCAGCAinsGCAGCAGCAGCAGCAGCAGCA	ENSP00000313316.5:p.Gln354del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:140811063-140811087	TGCTGCTGCTGCTGCTGC	ENSG00000196782	ENST00000327122	Transcript	inframe_deletion	1035-1058	1035-1058	345-353	QQQQQQQQQ/QQQQQQQ	caGCAGCAGCAGCAGCAGCAGCAGCAa/caGCAGCAGCAGCAGCAGCAa	-	-	-1	MAML3	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000327122.5:c.1035_1058delGCAGCAGCAGCAGCAGCAGCAGCAinsGCAGCAGCAGCAGCAGCA	ENSP00000313316.5:p.Gln353_Gln354del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:140811083-140811096	T	ENSG00000196782	ENST00000509479	Transcript	feature_truncation	2351-2363	1494-1506	498-502	QQQQQ/Q	caGCAGCAGCAGCAG/caA	-	-	-1	MAML3	HGNC	16272	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000509479.2:c.1494_1506delGCAGCAGCAGCAGinsA	ENSP00000421180.1:p.Gln499_Gln502del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:140811083-140811096	T	ENSG00000196782	ENST00000502696	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	MAML3	HGNC	-	protein_coding	-	-	-	ENST00000502696.1:c.111-159275_111-159263delGCAGCAGCAGCAGinsA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:140811083-140811096	T	ENSG00000196782	ENST00000398940	Transcript	splice_region_variant,intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	MAML3	HGNC	-	protein_coding	-	-	-	ENST00000398940.1:c.108+3_108+15delGCAGCAGCAGCAGinsA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:140811083-140811096	T	ENSG00000196782	ENST00000327122	Transcript	feature_truncation	1026-1038	1026-1038	342-346	QQQQQ/Q	caGCAGCAGCAGCAG/caA	-	-	-1	MAML3	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000327122.5:c.1026_1038delGCAGCAGCAGCAGinsA	ENSP00000313316.5:p.Gln343_Gln346del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:175899117-175899145	T	ENSG00000168594	ENST00000502305	Transcript	downstream_gene_variant	-	-	-	-	-	-	2310	1	ADAM29	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:175899117-175899145	T	ENSG00000168594	ENST00000515538	Transcript	downstream_gene_variant	-	-	-	-	-	-	2565	1	ADAM29	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:175899117-175899145	T	ENSG00000168594	ENST00000514159	Transcript	coding_sequence_variant,3_prime_UTR_variant,feature_truncation	2872-2899	2442-?	814-?	-	-	-	-	1	ADAM29	HGNC	-	protein_coding	-	-	-	ENST00000514159.1:c.*6_2442delACCTCCTGTGACGCCCTCCTAGAGCCAAinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:175899117-175899145	T	ENSG00000168594	ENST00000502940	Transcript	downstream_gene_variant	-	-	-	-	-	-	2173	1	ADAM29	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:175899117-175899145	T	ENSG00000168594	ENST00000445694	Transcript	coding_sequence_variant,3_prime_UTR_variant,feature_truncation	3031-3058	2442-?	814-?	-	-	-	-	1	ADAM29	HGNC	-	protein_coding	-	-	-	ENST00000445694.1:c.*6_2442delACCTCCTGTGACGCCCTCCTAGAGCCAAinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:175899117-175899145	T	ENSG00000168594	ENST00000404450	Transcript	coding_sequence_variant,3_prime_UTR_variant,feature_truncation	2958-2985	2442-?	814-?	-	-	-	-	1	ADAM29	HGNC	-	protein_coding	-	-	-	ENST00000404450.4:c.*6_2442delACCTCCTGTGACGCCCTCCTAGAGCCAAinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:175899117-175899145	T	ENSG00000168594	ENST00000505141	Transcript	downstream_gene_variant	-	-	-	-	-	-	2399	1	ADAM29	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:175899117-175899145	T	ENSG00000250431	ENST00000507525	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	-1	RP13-577H12.2	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000507525.1:n.139-302_138+294delTTGGCTCTAGGAGGGCGTCACAGGAGGTinsA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	4:175899117-175899145	T	ENSG00000168594	ENST00000359240	Transcript	coding_sequence_variant,3_prime_UTR_variant,feature_truncation	3112-3139	2442-?	814-?	-	-	-	-	1	ADAM29	HGNC	-	protein_coding	-	-	-	ENST00000359240.3:c.*6_2442delACCTCCTGTGACGCCCTCCTAGAGCCAAinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:1036899-1036916	T	ENSG00000145506	ENST00000523688	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	NKD2	HGNC	-	retained_intron	-	-	-	ENST00000523688.1:n.361+401_361+417delCGGCAGTGTGGACAACAinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:1036899-1036916	T	ENSG00000145506	ENST00000537972	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	NKD2	HGNC	-	protein_coding	-	-	-	ENST00000537972.1:c.787+401_787+417delCGGCAGTGTGGACAACAinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:1036899-1036916	T	ENSG00000145506	ENST00000513296	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	NKD2	HGNC	-	retained_intron	-	-	-	ENST00000513296.2:n.580+401_580+417delCGGCAGTGTGGACAACAinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:1036899-1036916	T	ENSG00000145506	ENST00000519933	Transcript	downstream_gene_variant	-	-	-	-	-	-	613	1	NKD2	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:1036899-1036916	T	ENSG00000145506	ENST00000274150	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	NKD2	HGNC	-	protein_coding	-	-	-	ENST00000274150.4:c.787+401_787+417delCGGCAGTGTGGACAACAinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:1036899-1036916	T	ENSG00000145506	ENST00000296849	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	NKD2	HGNC	17046	protein_coding	-	-	-	ENST00000296849.5:c.787+401_787+417delCGGCAGTGTGGACAACAinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:1036899-1036916	T	ENSG00000145506	ENST00000382730	Transcript	frameshift_variant,feature_truncation	6-22	6-22	2-8	-	-	-	-	1	NKD2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000382730.2:c.6_22delCGGCAGTGTGGACAACAinsT	ENSP00000372177.2:p.Asn7GlyfsTer80	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:1036961-1036966	AGACAGCAGGCAGTGTGGATGGCAG	ENSG00000145506	ENST00000523688	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	NKD2	HGNC	-	retained_intron	-	-	-	ENST00000523688.1:n.361+463_361+467delCGACAinsAGACAGCAGGCAGTGTGGATGGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:1036961-1036966	AGACAGCAGGCAGTGTGGATGGCAG	ENSG00000145506	ENST00000537972	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	NKD2	HGNC	-	protein_coding	-	-	-	ENST00000537972.1:c.787+463_787+467delCGACAinsAGACAGCAGGCAGTGTGGATGGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:1036961-1036966	AGACAGCAGGCAGTGTGGATGGCAG	ENSG00000145506	ENST00000513296	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	NKD2	HGNC	-	retained_intron	-	-	-	ENST00000513296.2:n.580+463_580+467delCGACAinsAGACAGCAGGCAGTGTGGATGGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:1036961-1036966	AGACAGCAGGCAGTGTGGATGGCAG	ENSG00000145506	ENST00000519933	Transcript	downstream_gene_variant	-	-	-	-	-	-	675	1	NKD2	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:1036961-1036966	AGACAGCAGGCAGTGTGGATGGCAG	ENSG00000145506	ENST00000274150	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	NKD2	HGNC	-	protein_coding	-	-	-	ENST00000274150.4:c.787+463_787+467delCGACAinsAGACAGCAGGCAGTGTGGATGGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:1036961-1036966	AGACAGCAGGCAGTGTGGATGGCAG	ENSG00000145506	ENST00000296849	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	NKD2	HGNC	17046	protein_coding	-	-	-	ENST00000296849.5:c.787+463_787+467delCGACAinsAGACAGCAGGCAGTGTGGATGGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:1036961-1036966	AGACAGCAGGCAGTGTGGATGGCAG	ENSG00000145506	ENST00000382730	Transcript	frameshift_variant,feature_elongation	68-72	68-72	23-24	-	-	-	-	1	NKD2	HGNC	-	protein_coding	-	-	-	ENST00000382730.2:c.68_72delCGACAinsAGACAGCAGGCAGTGTGGATGGCAG	ENSP00000372177.2:p.Ser23Ter	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:35965705-35965707	ATCAGTTTCTG	ENSG00000145626	ENST00000274278	Transcript	stop_gained,inframe_insertion	982-983	624-625	208-209	FS/FRN*C	ttTAgt/ttCAGAAACTGATgt	-	-	-1	UGT3A1	HGNC	26625	protein_coding	-	-	Pfam_domain:PF00201,Superfamily_domains:SSF53756	ENST00000274278.3:c.624_625delTAinsCAGAAACTGAT	ENSP00000274278.3:p.Ser209delinsArgAsnTerCys	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:35965705-35965707	ATCAGTTTCTG	ENSG00000145626	ENST00000515801	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	1171-1172	-	-	-	-	-	-	-1	UGT3A1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000515801.1:c.*632_*633delTAinsCAGAAACTGAT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:35965705-35965707	ATCAGTTTCTG	ENSG00000145626	ENST00000507113	Transcript	stop_gained,inframe_insertion	715-716	522-523	174-175	FS/FRN*C	ttTAgt/ttCAGAAACTGATgt	-	-	-1	UGT3A1	HGNC	-	protein_coding	-	-	Pfam_domain:PF00201,Superfamily_domains:SSF53756	ENST00000507113.1:c.522_523delTAinsCAGAAACTGAT	ENSP00000426100.1:p.Ser175delinsArgAsnTerCys	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:35965705-35965707	ATCAGTTTCTG	ENSG00000145626	ENST00000333811	Transcript	stop_gained,inframe_insertion	682-683	462-463	154-155	FS/FRN*C	ttTAgt/ttCAGAAACTGATgt	-	-	-1	UGT3A1	HGNC	-	protein_coding	-	-	Pfam_domain:PF00201,Superfamily_domains:SSF53756	ENST00000333811.4:c.462_463delTAinsCAGAAACTGAT	ENSP00000328033.4:p.Ser155delinsArgAsnTerCys	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:35965705-35965707	ATCAGTTTCTG	ENSG00000145626	ENST00000513233	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	UGT3A1	HGNC	-	processed_transcript	-	-	-	ENST00000513233.1:n.189-8186_189-8185delTAinsCAGAAACTGAT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:35965705-35965707	ATCAGTTTCTG	ENSG00000145626	ENST00000503189	Transcript	stop_gained,inframe_insertion	781-782	624-625	208-209	FS/FRN*C	ttTAgt/ttCAGAAACTGATgt	-	-	-1	UGT3A1	HGNC	-	protein_coding	-	-	Pfam_domain:PF00201,Superfamily_domains:SSF53756	ENST00000503189.1:c.624_625delTAinsCAGAAACTGAT	ENSP00000427079.1:p.Ser209delinsArgAsnTerCys	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:66462053-66462069	G	ENSG00000069020	ENST00000403666	Transcript	feature_truncation	6548-6563	6480-6495	2160-2165	TDNRQT/T	acAGACAACAGACAGACA/acG	-	-	1	MAST4	HGNC	-	protein_coding	-	-	-	ENST00000403666.1:c.6480_6495delAGACAACAGACAGACAinsG	ENSP00000384313.1:p.Asp2161_Thr2165del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:66462053-66462069	G	ENSG00000069020	ENST00000404260	Transcript	feature_truncation	7364-7379	7056-7071	2352-2357	TDNRQT/T	acAGACAACAGACAGACA/acG	-	-	1	MAST4	HGNC	-	protein_coding	-	-	-	ENST00000404260.3:c.7056_7071delAGACAACAGACAGACAinsG	ENSP00000385048.3:p.Asp2353_Thr2357del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:66462053-66462069	G	ENSG00000069020	ENST00000443808	Transcript	feature_truncation	4216-4231	4218-4233	1406-1411	TDNRQT/T	acAGACAACAGACAGACA/acG	-	-	1	MAST4	HGNC	-	protein_coding	-	-	-	ENST00000443808.1:c.4216_4231delAGACAACAGACAGACAinsG	ENSP00000400551.1:p.Asp1407_Thr1411del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:66462053-66462069	G	ENSG00000069020	ENST00000261569	Transcript	feature_truncation	6839-6854	6465-6480	2155-2160	TDNRQT/T	acAGACAACAGACAGACA/acG	-	-	1	MAST4	HGNC	-	protein_coding	-	-	-	ENST00000261569.7:c.6465_6480delAGACAACAGACAGACAinsG	ENSP00000261569.7:p.Asp2156_Thr2160del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:66462053-66462069	G	ENSG00000069020	ENST00000405643	Transcript	feature_truncation	6888-6903	6510-6525	2170-2175	TDNRQT/T	acAGACAACAGACAGACA/acG	-	-	1	MAST4	HGNC	-	protein_coding	-	-	-	ENST00000405643.1:c.6510_6525delAGACAACAGACAGACAinsG	ENSP00000384099.1:p.Asp2171_Thr2175del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:66462053-66462069	G	ENSG00000069020	ENST00000403625	Transcript	feature_truncation	7342-7357	7047-7062	2349-2354	TDNRQT/T	acAGACAACAGACAGACA/acG	-	-	1	MAST4	HGNC	19037	protein_coding	-	-	-	ENST00000403625.2:c.7047_7062delAGACAACAGACAGACAinsG	ENSP00000385727.1:p.Asp2350_Thr2354del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:66462053-66462069	G	-	ENSR00001281996	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:74865168-74865169	TCAACCTTAATCTGT	ENSG00000122008	ENST00000514141	Transcript	frameshift_variant,NMD_transcript_variant,feature_elongation	273	260	87	-	-	COSM1070119,COSM1070120	-	1	POLK	HGNC	-	nonsense_mediated_decay	-	-	Coiled-coils_(Ncoils):ncoils,Superfamily_domains:SSF56672	ENST00000514141.1:c.260delAinsTCAACCTTAATCTGT	ENSP00000423526.1:p.Asp87ValfsTer12	-	-	-	-	-	-	-	-	1,1	-	-	-	-
.	5:74865168-74865169	TCAACCTTAATCTGT	ENSG00000122008	ENST00000507073	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	211	-	-	-	-	COSM1070119,COSM1070120	-	1	POLK	HGNC	-	processed_transcript	-	-	-	ENST00000507073.1:n.211delAinsTCAACCTTAATCTGT	-	-	-	-	-	-	-	-	-	1,1	-	-	-	-
.	5:74865168-74865169	TCAACCTTAATCTGT	ENSG00000122008	ENST00000509126	Transcript	frameshift_variant,NMD_transcript_variant,feature_elongation	260	260	87	-	-	COSM1070119,COSM1070120	-	1	POLK	HGNC	-	nonsense_mediated_decay	-	-	Coiled-coils_(Ncoils):ncoils,Superfamily_domains:SSF56672	ENST00000509126.1:c.260delAinsTCAACCTTAATCTGT	ENSP00000423532.1:p.Asp87ValfsTer12	-	-	-	-	-	-	-	-	1,1	-	-	-	-
.	5:74865168-74865169	TCAACCTTAATCTGT	ENSG00000122008	ENST00000506928	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	297	-	-	-	-	COSM1070119,COSM1070120	-	1	POLK	HGNC	-	processed_transcript	-	-	-	ENST00000506928.1:n.297delAinsTCAACCTTAATCTGT	-	-	-	-	-	-	-	-	-	1,1	-	-	-	-
.	5:74865168-74865169	TCAACCTTAATCTGT	ENSG00000122008	ENST00000352007	Transcript	frameshift_variant,feature_elongation	356	260	87	-	-	COSM1070119,COSM1070120	-	1	POLK	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Superfamily_domains:SSF56672	ENST00000352007.5:c.260delAinsTCAACCTTAATCTGT	ENSP00000342256.5:p.Asp87ValfsTer12	-	-	-	-	-	-	-	-	1,1	-	-	-	-
.	5:74865168-74865169	TCAACCTTAATCTGT	ENSG00000122008	ENST00000510815	Transcript	5_prime_UTR_variant,NMD_transcript_variant,feature_elongation	263	-	-	-	-	COSM1070119,COSM1070120	-	1	POLK	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000510815.2:c.-11delAinsTCAACCTTAATCTGT	-	-	-	-	-	-	-	-	-	1,1	-	-	-	-
.	5:74865168-74865169	TCAACCTTAATCTGT	ENSG00000122008	ENST00000515295	Transcript	frameshift_variant,feature_elongation	273	260	87	-	-	COSM1070119,COSM1070120	-	1	POLK	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Superfamily_domains:SSF56672	ENST00000515295.1:c.260delAinsTCAACCTTAATCTGT	ENSP00000424174.1:p.Asp87ValfsTer12	-	-	-	-	-	-	-	-	1,1	-	-	-	-
.	5:74865168-74865169	TCAACCTTAATCTGT	ENSG00000122008	ENST00000508867	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	273	-	-	-	-	COSM1070119,COSM1070120	-	1	POLK	HGNC	-	retained_intron	-	-	-	ENST00000508867.1:n.273delAinsTCAACCTTAATCTGT	-	-	-	-	-	-	-	-	-	1,1	-	-	-	-
.	5:74865168-74865169	TCAACCTTAATCTGT	ENSG00000122008	ENST00000380481	Transcript	5_prime_UTR_variant,feature_elongation	374	-	-	-	-	COSM1070119,COSM1070120	-	1	POLK	HGNC	-	protein_coding	-	-	-	ENST00000380481.3:c.-11delAinsTCAACCTTAATCTGT	-	-	-	-	-	-	-	-	-	1,1	-	-	-	-
.	5:74865168-74865169	TCAACCTTAATCTGT	ENSG00000122008	ENST00000504026	Transcript	frameshift_variant,feature_elongation	260	260	87	-	-	COSM1070119,COSM1070120	-	1	POLK	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Superfamily_domains:SSF56672	ENST00000504026.1:c.260delAinsTCAACCTTAATCTGT	ENSP00000425075.1:p.Asp87ValfsTer12	-	-	-	-	-	-	-	-	1,1	-	-	-	-
.	5:74865168-74865169	TCAACCTTAATCTGT	ENSG00000122008	ENST00000511527	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	374	-	-	-	-	COSM1070119,COSM1070120	-	1	POLK	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000511527.1:c.*101delAinsTCAACCTTAATCTGT	-	-	-	-	-	-	-	-	-	1,1	-	-	-	-
.	5:74865168-74865169	TCAACCTTAATCTGT	ENSG00000122008	ENST00000241436	Transcript	frameshift_variant,feature_elongation	432	260	87	-	-	COSM1070119,COSM1070120	-	1	POLK	HGNC	9183	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Superfamily_domains:SSF56672	ENST00000241436.4:c.260delAinsTCAACCTTAATCTGT	ENSP00000241436.4:p.Asp87ValfsTer12	-	-	-	-	-	-	-	-	1,1	-	-	-	-
.	5:74865168-74865169	TCAACCTTAATCTGT	ENSG00000122008	ENST00000505774	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	540	-	-	-	-	COSM1070119,COSM1070120	-	1	POLK	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000505774.1:c.*101delAinsTCAACCTTAATCTGT	-	-	-	-	-	-	-	-	-	1,1	-	-	-	-
.	5:74865168-74865169	TCAACCTTAATCTGT	ENSG00000122008	ENST00000505975	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	374	-	-	-	-	COSM1070119,COSM1070120	-	1	POLK	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000505975.1:c.*101delAinsTCAACCTTAATCTGT	-	-	-	-	-	-	-	-	-	1,1	-	-	-	-
.	5:74865168-74865169	TCAACCTTAATCTGT	ENSG00000122008	ENST00000514296	Transcript	frameshift_variant,feature_elongation	1288	260	87	-	-	COSM1070119,COSM1070120	-	1	POLK	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Superfamily_domains:SSF56672	ENST00000514296.1:c.260delAinsTCAACCTTAATCTGT	ENSP00000425208.1:p.Asp87ValfsTer12	-	-	-	-	-	-	-	-	1,1	-	-	-	-
.	5:74865168-74865169	TCAACCTTAATCTGT	ENSG00000122008	ENST00000503479	Transcript	frameshift_variant,NMD_transcript_variant,feature_elongation	195	62	21	-	-	COSM1070119,COSM1070120	-	1	POLK	HGNC	-	nonsense_mediated_decay	-	-	Coiled-coils_(Ncoils):ncoils,Superfamily_domains:SSF56672	ENST00000503479.2:c.62delAinsTCAACCTTAATCTGT	ENSP00000421997.2:p.Asp21ValfsTer12	-	-	-	-	-	-	-	-	1,1	-	-	-	-
.	5:74865168-74865169	TCAACCTTAATCTGT	ENSG00000122008	ENST00000508526	Transcript	frameshift_variant,feature_elongation	260	260	87	-	-	COSM1070119,COSM1070120	-	1	POLK	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Superfamily_domains:SSF56672	ENST00000508526.1:c.260delAinsTCAACCTTAATCTGT	ENSP00000426853.1:p.Asp87ValfsTer12	-	-	-	-	-	-	-	-	1,1	-	-	-	-
.	5:79950706-79950733	-	ENSG00000113318	ENST00000512531	Transcript	upstream_gene_variant	-	-	-	-	-	-	238	1	MSH3	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGCGC	ENSG00000113318	ENST00000512531	Transcript	upstream_gene_variant	-	-	-	-	-	-	238	1	MSH3	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	-	ENSG00000228716	ENST00000504396	Transcript	upstream_gene_variant	-	-	-	-	-	-	330	-1	DHFR	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGCGC	ENSG00000228716	ENST00000504396	Transcript	upstream_gene_variant	-	-	-	-	-	-	330	-1	DHFR	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	-	ENSG00000228716	ENST00000511032	Transcript	upstream_gene_variant	-	-	-	-	-	-	336	-1	DHFR	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGCGC	ENSG00000228716	ENST00000511032	Transcript	upstream_gene_variant	-	-	-	-	-	-	336	-1	DHFR	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	-	ENSG00000228716	ENST00000513048	Transcript	upstream_gene_variant	-	-	-	-	-	-	341	-1	DHFR	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGCGC	ENSG00000228716	ENST00000513048	Transcript	upstream_gene_variant	-	-	-	-	-	-	341	-1	DHFR	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	-	ENSG00000271043	ENST00000604882	Transcript	upstream_gene_variant	-	-	-	-	-	-	3852	-1	MTRNR2L2	HGNC	37156	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGCGC	ENSG00000271043	ENST00000604882	Transcript	upstream_gene_variant	-	-	-	-	-	-	3852	-1	MTRNR2L2	HGNC	37156	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	-	ENSG00000228716	ENST00000439211	Transcript	5_prime_UTR_variant,feature_truncation	70-96	-	-	-	-	-	-	-1	DHFR	HGNC	2861	protein_coding	-	-	-	ENST00000439211.2:c.-425_-399delGCGCTGCGGCCGCTGCGGCCGCTGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGCGC	ENSG00000228716	ENST00000439211	Transcript	5_prime_UTR_variant,feature_elongation	70-96	-	-	-	-	-	-	-1	DHFR	HGNC	2861	protein_coding	-	-	-	ENST00000439211.2:c.-425_-399delGCGCTGCGGCCGCTGCGGCCGCTGCAGinsGCGCTGGGGGCGCTGGGGGCGCTGGGGGCGCTGGGGGCGCTGCGGCCGCTGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	-	ENSG00000228716	ENST00000505337	Transcript	upstream_gene_variant	-	-	-	-	-	-	214	-1	DHFR	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGCGC	ENSG00000228716	ENST00000505337	Transcript	upstream_gene_variant	-	-	-	-	-	-	214	-1	DHFR	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	-	ENSG00000113318	ENST00000265081	Transcript	inframe_deletion	241-267	161-187	54-63	AAAAAAAAAP/A	gCTGCAGCGGCCGCAGCGGCCGCAGCGCcc/gcc	-	-	1	MSH3	HGNC	7326	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50310	ENST00000265081.6:c.161_187delCTGCAGCGGCCGCAGCGGCCGCAGCGC	ENSP00000265081.6:p.Ala55_Pro63del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGCGC	ENSG00000113318	ENST00000265081	Transcript	inframe_insertion	241-267	161-187	54-63	AAAAAAAAAP/AAAAAAPPAPPAPPAPPAP	gCTGCAGCGGCCGCAGCGGCCGCAGCGCcc/gCTGCAGCGGCCGCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGCGCcc	-	-	1	MSH3	HGNC	7326	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50310	ENST00000265081.6:c.161_187delCTGCAGCGGCCGCAGCGGCCGCAGCGCinsCTGCAGCGGCCGCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGCGC	ENSP00000265081.6:p.Ala60_Ala61delinsProProAlaProProAlaProProAlaProPro	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	-	ENSG00000228716	ENST00000508282	Transcript	upstream_gene_variant	-	-	-	-	-	-	787	-1	DHFR	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGCGC	ENSG00000228716	ENST00000508282	Transcript	upstream_gene_variant	-	-	-	-	-	-	787	-1	DHFR	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	-	ENSG00000228716	ENST00000513314	Transcript	upstream_gene_variant	-	-	-	-	-	-	853	-1	DHFR	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGCGC	ENSG00000228716	ENST00000513314	Transcript	upstream_gene_variant	-	-	-	-	-	-	853	-1	DHFR	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	-	-	ENSR00001284004	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGCGC	-	ENSR00001284004	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGGCCGCAGCGGCCGCAGCGCCCGCAGCGC	ENSG00000113318	ENST00000512531	Transcript	upstream_gene_variant	-	-	-	-	-	-	238	1	MSH3	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	-	ENSG00000113318	ENST00000512531	Transcript	upstream_gene_variant	-	-	-	-	-	-	238	1	MSH3	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGC	ENSG00000113318	ENST00000512531	Transcript	upstream_gene_variant	-	-	-	-	-	-	238	1	MSH3	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGGCCGCAGCGCCCGCAGCGC	ENSG00000113318	ENST00000512531	Transcript	upstream_gene_variant	-	-	-	-	-	-	238	1	MSH3	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGGCCGCAGCGGCCGCAGCGCCCGCAGCGC	ENSG00000228716	ENST00000504396	Transcript	upstream_gene_variant	-	-	-	-	-	-	330	-1	DHFR	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	-	ENSG00000228716	ENST00000504396	Transcript	upstream_gene_variant	-	-	-	-	-	-	330	-1	DHFR	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGC	ENSG00000228716	ENST00000504396	Transcript	upstream_gene_variant	-	-	-	-	-	-	330	-1	DHFR	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGGCCGCAGCGCCCGCAGCGC	ENSG00000228716	ENST00000504396	Transcript	upstream_gene_variant	-	-	-	-	-	-	330	-1	DHFR	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGGCCGCAGCGGCCGCAGCGCCCGCAGCGC	ENSG00000228716	ENST00000511032	Transcript	upstream_gene_variant	-	-	-	-	-	-	336	-1	DHFR	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	-	ENSG00000228716	ENST00000511032	Transcript	upstream_gene_variant	-	-	-	-	-	-	336	-1	DHFR	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGC	ENSG00000228716	ENST00000511032	Transcript	upstream_gene_variant	-	-	-	-	-	-	336	-1	DHFR	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGGCCGCAGCGCCCGCAGCGC	ENSG00000228716	ENST00000511032	Transcript	upstream_gene_variant	-	-	-	-	-	-	336	-1	DHFR	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGGCCGCAGCGGCCGCAGCGCCCGCAGCGC	ENSG00000228716	ENST00000513048	Transcript	upstream_gene_variant	-	-	-	-	-	-	341	-1	DHFR	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	-	ENSG00000228716	ENST00000513048	Transcript	upstream_gene_variant	-	-	-	-	-	-	341	-1	DHFR	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGC	ENSG00000228716	ENST00000513048	Transcript	upstream_gene_variant	-	-	-	-	-	-	341	-1	DHFR	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGGCCGCAGCGCCCGCAGCGC	ENSG00000228716	ENST00000513048	Transcript	upstream_gene_variant	-	-	-	-	-	-	341	-1	DHFR	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGGCCGCAGCGGCCGCAGCGCCCGCAGCGC	ENSG00000271043	ENST00000604882	Transcript	upstream_gene_variant	-	-	-	-	-	-	3852	-1	MTRNR2L2	HGNC	37156	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	-	ENSG00000271043	ENST00000604882	Transcript	upstream_gene_variant	-	-	-	-	-	-	3852	-1	MTRNR2L2	HGNC	37156	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGC	ENSG00000271043	ENST00000604882	Transcript	upstream_gene_variant	-	-	-	-	-	-	3852	-1	MTRNR2L2	HGNC	37156	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGGCCGCAGCGCCCGCAGCGC	ENSG00000271043	ENST00000604882	Transcript	upstream_gene_variant	-	-	-	-	-	-	3852	-1	MTRNR2L2	HGNC	37156	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGGCCGCAGCGGCCGCAGCGCCCGCAGCGC	ENSG00000228716	ENST00000439211	Transcript	5_prime_UTR_variant,feature_elongation	70-96	-	-	-	-	-	-	-1	DHFR	HGNC	2861	protein_coding	-	-	-	ENST00000439211.2:c.-425_-399delGCGCTGCGGCCGCTGCGGCCGCTGCAGinsGCGCTGCGGGCGCTGCGGCCGCTGCGGCCGCTGCGGCCGCTGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	-	ENSG00000228716	ENST00000439211	Transcript	5_prime_UTR_variant,feature_truncation	70-96	-	-	-	-	-	-	-1	DHFR	HGNC	2861	protein_coding	-	-	-	ENST00000439211.2:c.-425_-399delGCGCTGCGGCCGCTGCGGCCGCTGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGC	ENSG00000228716	ENST00000439211	Transcript	5_prime_UTR_variant,feature_truncation	70-96	-	-	-	-	-	-	-1	DHFR	HGNC	2861	protein_coding	-	-	-	ENST00000439211.2:c.-425_-399delGCGCTGCGGCCGCTGCGGCCGCTGCAGinsGCGCTGCGGCCGCTGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGGCCGCAGCGCCCGCAGCGC	ENSG00000228716	ENST00000439211	Transcript	5_prime_UTR_variant,feature_elongation	70-96	-	-	-	-	-	-	-1	DHFR	HGNC	2861	protein_coding	-	-	-	ENST00000439211.2:c.-425_-399delGCGCTGCGGCCGCTGCGGCCGCTGCAGinsGCGCTGCGGGCGCTGCGGCCGCTGCGGCCGCTGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGGCCGCAGCGGCCGCAGCGCCCGCAGCGC	ENSG00000228716	ENST00000505337	Transcript	upstream_gene_variant	-	-	-	-	-	-	214	-1	DHFR	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	-	ENSG00000228716	ENST00000505337	Transcript	upstream_gene_variant	-	-	-	-	-	-	214	-1	DHFR	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGC	ENSG00000228716	ENST00000505337	Transcript	upstream_gene_variant	-	-	-	-	-	-	214	-1	DHFR	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGGCCGCAGCGCCCGCAGCGC	ENSG00000228716	ENST00000505337	Transcript	upstream_gene_variant	-	-	-	-	-	-	214	-1	DHFR	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGGCCGCAGCGGCCGCAGCGCCCGCAGCGC	ENSG00000113318	ENST00000265081	Transcript	inframe_insertion	241-267	161-187	54-63	AAAAAAAAAP/AAAAAAAAAAAAPAAP	gCTGCAGCGGCCGCAGCGGCCGCAGCGCcc/gCTGCAGCGGCCGCAGCGGCCGCAGCGGCCGCAGCGCCCGCAGCGCcc	-	-	1	MSH3	HGNC	7326	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50310	ENST00000265081.6:c.161_187delCTGCAGCGGCCGCAGCGGCCGCAGCGCinsCTGCAGCGGCCGCAGCGGCCGCAGCGGCCGCAGCGCCCGCAGCGC	ENSP00000265081.6:p.Ala62_Pro63insAlaAlaAlaProAlaAla	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	-	ENSG00000113318	ENST00000265081	Transcript	inframe_deletion	241-267	161-187	54-63	AAAAAAAAAP/A	gCTGCAGCGGCCGCAGCGGCCGCAGCGCcc/gcc	-	-	1	MSH3	HGNC	7326	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50310	ENST00000265081.6:c.161_187delCTGCAGCGGCCGCAGCGGCCGCAGCGC	ENSP00000265081.6:p.Ala55_Pro63del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGC	ENSG00000113318	ENST00000265081	Transcript	inframe_deletion	241-267	161-187	54-63	AAAAAAAAAP/AAAAAAP	gCTGCAGCGGCCGCAGCGGCCGCAGCGCcc/gCTGCAGCGGCCGCAGCGCcc	-	-	1	MSH3	HGNC	7326	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50310	ENST00000265081.6:c.161_187delCTGCAGCGGCCGCAGCGGCCGCAGCGCinsCTGCAGCGGCCGCAGCGC	ENSP00000265081.6:p.Ala60_Ala62del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGGCCGCAGCGCCCGCAGCGC	ENSG00000113318	ENST00000265081	Transcript	inframe_insertion	241-267	161-187	54-63	AAAAAAAAAP/AAAAAAAAAPAAP	gCTGCAGCGGCCGCAGCGGCCGCAGCGCcc/gCTGCAGCGGCCGCAGCGGCCGCAGCGCCCGCAGCGCcc	-	-	1	MSH3	HGNC	7326	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50310	ENST00000265081.6:c.161_187delCTGCAGCGGCCGCAGCGGCCGCAGCGCinsCTGCAGCGGCCGCAGCGGCCGCAGCGCCCGCAGCGC	ENSP00000265081.6:p.Ala61_Pro63dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGGCCGCAGCGGCCGCAGCGCCCGCAGCGC	ENSG00000228716	ENST00000508282	Transcript	upstream_gene_variant	-	-	-	-	-	-	787	-1	DHFR	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	-	ENSG00000228716	ENST00000508282	Transcript	upstream_gene_variant	-	-	-	-	-	-	787	-1	DHFR	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGC	ENSG00000228716	ENST00000508282	Transcript	upstream_gene_variant	-	-	-	-	-	-	787	-1	DHFR	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGGCCGCAGCGCCCGCAGCGC	ENSG00000228716	ENST00000508282	Transcript	upstream_gene_variant	-	-	-	-	-	-	787	-1	DHFR	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGGCCGCAGCGGCCGCAGCGCCCGCAGCGC	ENSG00000228716	ENST00000513314	Transcript	upstream_gene_variant	-	-	-	-	-	-	853	-1	DHFR	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	-	ENSG00000228716	ENST00000513314	Transcript	upstream_gene_variant	-	-	-	-	-	-	853	-1	DHFR	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGC	ENSG00000228716	ENST00000513314	Transcript	upstream_gene_variant	-	-	-	-	-	-	853	-1	DHFR	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGGCCGCAGCGCCCGCAGCGC	ENSG00000228716	ENST00000513314	Transcript	upstream_gene_variant	-	-	-	-	-	-	853	-1	DHFR	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGGCCGCAGCGGCCGCAGCGCCCGCAGCGC	-	ENSR00001284004	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	-	-	ENSR00001284004	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGC	-	ENSR00001284004	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:79950706-79950733	CTGCAGCGGCCGCAGCGGCCGCAGCGCCCGCAGCGC	-	ENSR00001284004	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448749-110448753	-	ENSG00000134987	ENST00000513710	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	WDR36	HGNC	-	protein_coding	-	-	-	ENST00000513710.2:c.1885-23_1885-20delTATT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448749-110448753	-	ENSG00000134987	ENST00000506538	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	WDR36	HGNC	30696	protein_coding	-	-	-	ENST00000506538.2:c.1885-23_1885-20delTATT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448749-110448753	-	ENSG00000134987	ENST00000505303	Transcript	downstream_gene_variant	-	-	-	-	-	-	1499	1	WDR36	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448753	TTT	ENSG00000134987	ENST00000513710	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	WDR36	HGNC	-	protein_coding	-	-	-	ENST00000513710.2:c.1885-21_1885-20delTTinsTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448753	TATAT	ENSG00000134987	ENST00000513710	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	WDR36	HGNC	-	protein_coding	-	-	-	ENST00000513710.2:c.1885-21_1885-20delTTinsTATAT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448753	TATATATTT	ENSG00000134987	ENST00000513710	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	WDR36	HGNC	-	protein_coding	-	-	-	ENST00000513710.2:c.1885-21_1885-20delTTinsTATATATTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448753	TTTTTTT	ENSG00000134987	ENST00000513710	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	WDR36	HGNC	-	protein_coding	-	-	-	ENST00000513710.2:c.1885-21_1885-20delTTinsTTTTTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448753	TATATTTTT	ENSG00000134987	ENST00000513710	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	WDR36	HGNC	-	protein_coding	-	-	-	ENST00000513710.2:c.1885-21_1885-20delTTinsTATATTTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448753	-	ENSG00000134987	ENST00000513710	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	WDR36	HGNC	-	protein_coding	-	-	-	ENST00000513710.2:c.1885-21_1885-20delTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448753	TATTTTTT	ENSG00000134987	ENST00000513710	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	WDR36	HGNC	-	protein_coding	-	-	-	ENST00000513710.2:c.1885-21_1885-20delTTinsTATTTTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448753	TAT	ENSG00000134987	ENST00000513710	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	WDR36	HGNC	-	protein_coding	-	-	-	ENST00000513710.2:c.1885-21_1885-20delTTinsTAT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448753	TTT	ENSG00000134987	ENST00000506538	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	WDR36	HGNC	30696	protein_coding	-	-	-	ENST00000506538.2:c.1885-21_1885-20delTTinsTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448753	TATAT	ENSG00000134987	ENST00000506538	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	WDR36	HGNC	30696	protein_coding	-	-	-	ENST00000506538.2:c.1885-21_1885-20delTTinsTATAT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448753	TATATATTT	ENSG00000134987	ENST00000506538	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	WDR36	HGNC	30696	protein_coding	-	-	-	ENST00000506538.2:c.1885-21_1885-20delTTinsTATATATTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448753	TTTTTTT	ENSG00000134987	ENST00000506538	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	WDR36	HGNC	30696	protein_coding	-	-	-	ENST00000506538.2:c.1885-21_1885-20delTTinsTTTTTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448753	TATATTTTT	ENSG00000134987	ENST00000506538	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	WDR36	HGNC	30696	protein_coding	-	-	-	ENST00000506538.2:c.1885-21_1885-20delTTinsTATATTTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448753	-	ENSG00000134987	ENST00000506538	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	WDR36	HGNC	30696	protein_coding	-	-	-	ENST00000506538.2:c.1885-21_1885-20delTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448753	TATTTTTT	ENSG00000134987	ENST00000506538	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	WDR36	HGNC	30696	protein_coding	-	-	-	ENST00000506538.2:c.1885-21_1885-20delTTinsTATTTTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448753	TAT	ENSG00000134987	ENST00000506538	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	WDR36	HGNC	30696	protein_coding	-	-	-	ENST00000506538.2:c.1885-21_1885-20delTTinsTAT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448753	TTT	ENSG00000134987	ENST00000505303	Transcript	downstream_gene_variant	-	-	-	-	-	-	1501	1	WDR36	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448753	TATAT	ENSG00000134987	ENST00000505303	Transcript	downstream_gene_variant	-	-	-	-	-	-	1501	1	WDR36	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448753	TATATATTT	ENSG00000134987	ENST00000505303	Transcript	downstream_gene_variant	-	-	-	-	-	-	1501	1	WDR36	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448753	TTTTTTT	ENSG00000134987	ENST00000505303	Transcript	downstream_gene_variant	-	-	-	-	-	-	1501	1	WDR36	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448753	TATATTTTT	ENSG00000134987	ENST00000505303	Transcript	downstream_gene_variant	-	-	-	-	-	-	1501	1	WDR36	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448753	-	ENSG00000134987	ENST00000505303	Transcript	downstream_gene_variant	-	-	-	-	-	-	1501	1	WDR36	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448753	TATTTTTT	ENSG00000134987	ENST00000505303	Transcript	downstream_gene_variant	-	-	-	-	-	-	1501	1	WDR36	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448753	TAT	ENSG00000134987	ENST00000505303	Transcript	downstream_gene_variant	-	-	-	-	-	-	1501	1	WDR36	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448759	TATATATATATTTT	ENSG00000134987	ENST00000513710	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	WDR36	HGNC	-	protein_coding	-	-	-	ENST00000513710.2:c.1885-21_1885-14delTTTTTTTTinsTATATATATATTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448759	TATATATATATTTTTT	ENSG00000134987	ENST00000513710	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	WDR36	HGNC	-	protein_coding	-	-	-	ENST00000513710.2:c.1885-21_1885-14delTTTTTTTTinsTATATATATATTTTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448759	TATATATATATATTTTTT	ENSG00000134987	ENST00000513710	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	WDR36	HGNC	-	protein_coding	-	-	-	ENST00000513710.2:c.1885-21_1885-14delTTTTTTTTinsTATATATATATATTTTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448759	TTTTTT	ENSG00000134987	ENST00000513710	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	WDR36	HGNC	-	protein_coding	-	-	-	ENST00000513710.2:c.1885-21_1885-14delTTTTTTTTinsTTTTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448759	TATATATATATA	ENSG00000134987	ENST00000513710	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	WDR36	HGNC	-	protein_coding	-	-	-	ENST00000513710.2:c.1885-21_1885-14delTTTTTTTTinsTATATATATATA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448759	TATATATATATATATATATTTTTT	ENSG00000134987	ENST00000513710	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	WDR36	HGNC	-	protein_coding	-	-	-	ENST00000513710.2:c.1885-21_1885-14delTTTTTTTTinsTATATATATATATATATATTTTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448759	TATATATATATTTT	ENSG00000134987	ENST00000506538	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	WDR36	HGNC	30696	protein_coding	-	-	-	ENST00000506538.2:c.1885-21_1885-14delTTTTTTTTinsTATATATATATTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448759	TATATATATATTTTTT	ENSG00000134987	ENST00000506538	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	WDR36	HGNC	30696	protein_coding	-	-	-	ENST00000506538.2:c.1885-21_1885-14delTTTTTTTTinsTATATATATATTTTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448759	TATATATATATATTTTTT	ENSG00000134987	ENST00000506538	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	WDR36	HGNC	30696	protein_coding	-	-	-	ENST00000506538.2:c.1885-21_1885-14delTTTTTTTTinsTATATATATATATTTTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448759	TTTTTT	ENSG00000134987	ENST00000506538	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	WDR36	HGNC	30696	protein_coding	-	-	-	ENST00000506538.2:c.1885-21_1885-14delTTTTTTTTinsTTTTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448759	TATATATATATA	ENSG00000134987	ENST00000506538	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	WDR36	HGNC	30696	protein_coding	-	-	-	ENST00000506538.2:c.1885-21_1885-14delTTTTTTTTinsTATATATATATA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448759	TATATATATATATATATATTTTTT	ENSG00000134987	ENST00000506538	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	WDR36	HGNC	30696	protein_coding	-	-	-	ENST00000506538.2:c.1885-21_1885-14delTTTTTTTTinsTATATATATATATATATATTTTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448759	TATATATATATTTT	ENSG00000134987	ENST00000505303	Transcript	downstream_gene_variant	-	-	-	-	-	-	1501	1	WDR36	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448759	TATATATATATTTTTT	ENSG00000134987	ENST00000505303	Transcript	downstream_gene_variant	-	-	-	-	-	-	1501	1	WDR36	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448759	TATATATATATATTTTTT	ENSG00000134987	ENST00000505303	Transcript	downstream_gene_variant	-	-	-	-	-	-	1501	1	WDR36	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448759	TTTTTT	ENSG00000134987	ENST00000505303	Transcript	downstream_gene_variant	-	-	-	-	-	-	1501	1	WDR36	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448759	TATATATATATA	ENSG00000134987	ENST00000505303	Transcript	downstream_gene_variant	-	-	-	-	-	-	1501	1	WDR36	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448751-110448759	TATATATATATATATATATTTTTT	ENSG00000134987	ENST00000505303	Transcript	downstream_gene_variant	-	-	-	-	-	-	1501	1	WDR36	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448752	A	ENSG00000134987	ENST00000513710	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs35527062	-	1	WDR36	HGNC	-	protein_coding	-	-	-	ENST00000513710.2:c.1885-21_1885-20insA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448752	A	ENSG00000134987	ENST00000506538	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs35527062	-	1	WDR36	HGNC	30696	protein_coding	-	-	-	ENST00000506538.2:c.1885-21_1885-20insA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448752	A	ENSG00000134987	ENST00000505303	Transcript	downstream_gene_variant	-	-	-	-	-	rs35527062	1501	1	WDR36	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448752	ATATATA	ENSG00000134987	ENST00000513710	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs35527062	-	1	WDR36	HGNC	-	protein_coding	-	-	-	ENST00000513710.2:c.1885-21_1885-20insATATATA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448752	ATATATA	ENSG00000134987	ENST00000506538	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs35527062	-	1	WDR36	HGNC	30696	protein_coding	-	-	-	ENST00000506538.2:c.1885-21_1885-20insATATATA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448752	ATATATA	ENSG00000134987	ENST00000505303	Transcript	downstream_gene_variant	-	-	-	-	-	rs35527062	1501	1	WDR36	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448752	ATTTT	ENSG00000134987	ENST00000513710	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs35527062	-	1	WDR36	HGNC	-	protein_coding	-	-	-	ENST00000513710.2:c.1885-21_1885-20insATTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448752	ATTTT	ENSG00000134987	ENST00000506538	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs35527062	-	1	WDR36	HGNC	30696	protein_coding	-	-	-	ENST00000506538.2:c.1885-21_1885-20insATTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448752	ATTTT	ENSG00000134987	ENST00000505303	Transcript	downstream_gene_variant	-	-	-	-	-	rs35527062	1501	1	WDR36	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448752-110448753	ATATATATA	ENSG00000134987	ENST00000513710	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs59359951	-	1	WDR36	HGNC	-	protein_coding	-	-	-	ENST00000513710.2:c.1885-20delTinsATATATATA	-	A:0.3898	A:0.24	A:0.51	A:0.34	A:0.47	A:0.012093	A:0.027718	-	-	-	-	-	-
.	5:110448752-110448753	ATATATATA	ENSG00000134987	ENST00000506538	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs59359951	-	1	WDR36	HGNC	30696	protein_coding	-	-	-	ENST00000506538.2:c.1885-20delTinsATATATATA	-	A:0.3898	A:0.24	A:0.51	A:0.34	A:0.47	A:0.012093	A:0.027718	-	-	-	-	-	-
.	5:110448752-110448753	ATATATATA	ENSG00000134987	ENST00000505303	Transcript	downstream_gene_variant	-	-	-	-	-	rs59359951	1502	1	WDR36	HGNC	-	protein_coding	-	-	-	-	-	A:0.3898	A:0.24	A:0.51	A:0.34	A:0.47	A:0.012093	A:0.027718	-	-	-	-	-	-
.	5:110448752-110448753	ATATATATATATATATA	ENSG00000134987	ENST00000513710	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs59359951	-	1	WDR36	HGNC	-	protein_coding	-	-	-	ENST00000513710.2:c.1885-20delTinsATATATATATATATATA	-	A:0.3898	A:0.24	A:0.51	A:0.34	A:0.47	A:0.012093	A:0.027718	-	-	-	-	-	-
.	5:110448752-110448753	ATATATATATATATATA	ENSG00000134987	ENST00000506538	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs59359951	-	1	WDR36	HGNC	30696	protein_coding	-	-	-	ENST00000506538.2:c.1885-20delTinsATATATATATATATATA	-	A:0.3898	A:0.24	A:0.51	A:0.34	A:0.47	A:0.012093	A:0.027718	-	-	-	-	-	-
.	5:110448752-110448753	ATATATATATATATATA	ENSG00000134987	ENST00000505303	Transcript	downstream_gene_variant	-	-	-	-	-	rs59359951	1502	1	WDR36	HGNC	-	protein_coding	-	-	-	-	-	A:0.3898	A:0.24	A:0.51	A:0.34	A:0.47	A:0.012093	A:0.027718	-	-	-	-	-	-
.	5:110448752-110448755	ATATATATATATATATATA	ENSG00000134987	ENST00000513710	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	WDR36	HGNC	-	protein_coding	-	-	-	ENST00000513710.2:c.1885-20_1885-18delTTTinsATATATATATATATATATA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448752-110448755	ATATATATATATATATATA	ENSG00000134987	ENST00000506538	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	WDR36	HGNC	30696	protein_coding	-	-	-	ENST00000506538.2:c.1885-20_1885-18delTTTinsATATATATATATATATATA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448752-110448755	ATATATATATATATATATA	ENSG00000134987	ENST00000505303	Transcript	downstream_gene_variant	-	-	-	-	-	-	1502	1	WDR36	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448752-110448755	ATATATATA	ENSG00000134987	ENST00000513710	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	WDR36	HGNC	-	protein_coding	-	-	-	ENST00000513710.2:c.1885-20_1885-18delTTTinsATATATATA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448752-110448755	ATTT	ENSG00000134987	ENST00000513710	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	WDR36	HGNC	-	protein_coding	-	-	-	ENST00000513710.2:c.1885-20_1885-18delTTTinsATTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448752-110448755	ATATATATA	ENSG00000134987	ENST00000506538	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	WDR36	HGNC	30696	protein_coding	-	-	-	ENST00000506538.2:c.1885-20_1885-18delTTTinsATATATATA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448752-110448755	ATTT	ENSG00000134987	ENST00000506538	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	WDR36	HGNC	30696	protein_coding	-	-	-	ENST00000506538.2:c.1885-20_1885-18delTTTinsATTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448752-110448755	ATATATATA	ENSG00000134987	ENST00000505303	Transcript	downstream_gene_variant	-	-	-	-	-	-	1502	1	WDR36	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448752-110448755	ATTT	ENSG00000134987	ENST00000505303	Transcript	downstream_gene_variant	-	-	-	-	-	-	1502	1	WDR36	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448752-110448759	ATATATATATA	ENSG00000134987	ENST00000513710	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	WDR36	HGNC	-	protein_coding	-	-	-	ENST00000513710.2:c.1885-20_1885-14delTTTTTTTinsATATATATATA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448752-110448759	ATATATATATA	ENSG00000134987	ENST00000506538	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	WDR36	HGNC	30696	protein_coding	-	-	-	ENST00000506538.2:c.1885-20_1885-14delTTTTTTTinsATATATATATA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	5:110448752-110448759	ATATATATATA	ENSG00000134987	ENST00000505303	Transcript	downstream_gene_variant	-	-	-	-	-	-	1502	1	WDR36	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:30681076-30681101	C	ENSG00000137337	ENST00000422266	Transcript	downstream_gene_variant	-	-	-	-	-	-	656	-1	MDC1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:30681076-30681101	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:30681076-30681101	C	ENSG00000137337	ENST00000425072	Transcript	downstream_gene_variant	-	-	-	-	-	-	616	-1	MDC1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:30681076-30681101	C	ENSG00000224328	ENST00000442150	Transcript	downstream_gene_variant	-	-	-	-	-	-	116	1	MDC1-AS1	HGNC	39764	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:30681076-30681101	C	ENSG00000137337	ENST00000417033	Transcript	upstream_gene_variant	-	-	-	-	-	-	1386	-1	MDC1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:30681076-30681101	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:30681076-30681101	C	ENSG00000137337	ENST00000494654	Transcript	upstream_gene_variant	-	-	-	-	-	-	1369	-1	MDC1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:30681076-30681101	C	ENSG00000137337	ENST00000416571	Transcript	downstream_gene_variant	-	-	-	-	-	-	509	-1	MDC1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:30954367-30954381	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:30954367-30954381	GG	ENSG00000204544	ENST00000486149	Transcript	5_prime_UTR_variant,feature_truncation	799-812	-	-	-	-	-	-	1	MUC21	HGNC	21661	protein_coding	-	-	-	ENST00000486149.2:c.-947_-934delACTCCAGCACAACCinsGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31165565-31165570	CCGTGGTGTTTCAA	ENSG00000206344	ENST00000414008	Transcript	upstream_gene_variant	-	-	-	-	-	-	347	1	HCG27	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31165565-31165570	CCGTGGTGTTTCAA	ENSG00000272501	ENST00000606367	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	245-249	-	-	-	-	-	-	-1	XXbac-BPG299F13.17	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000606367.1:n.245_249delCACGAinsTTGAAACACCACGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31165565-31165570	CCGTGGTGTTTCAA	ENSG00000206344	ENST00000424675	Transcript	upstream_gene_variant	-	-	-	-	-	-	345	1	HCG27	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31165565-31165570	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31165565-31165570	CCGTGGTGTTTCAA	ENSG00000206344	ENST00000415276	Transcript	upstream_gene_variant	-	-	-	-	-	-	4220	1	HCG27	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31165565-31165570	CCGTGGTGTTTCAA	ENSG00000271821	ENST00000606909	Transcript	downstream_gene_variant	-	-	-	-	-	-	2372	-1	XXbac-BPG299F13.14	Clone_based_vega_gene	-	lincRNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31165565-31165570	CCGTGGTGTTTCAA	-	ENSR00000487808	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31322923-31322928	GACCACAGCTACGG	ENSG00000234745	ENST00000481849	Transcript	upstream_gene_variant	-	-	-	-	-	-	341	-1	HLA-B	HGNC	4932	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31322923-31322928	GACCACAGCTACGG	ENSG00000234745	ENST00000463574	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	559-563	-	-	-	-	-	-	-1	HLA-B	HGNC	-	retained_intron	-	-	-	ENST00000463574.1:n.559_563delTCGGAinsCCGTAGCTGTGGTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31322923-31322928	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31322923-31322928	GACCACAGCTACGG	ENSG00000234745	ENST00000498007	Transcript	downstream_gene_variant	-	-	-	-	-	-	240	-1	HLA-B	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31322923-31322928	GACCACAGCTACGG	ENSG00000234745	ENST00000497377	Transcript	upstream_gene_variant	-	-	-	-	-	-	71	-1	HLA-B	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31322923-31322928	GACCACAGCTACGG	ENSG00000234745	ENST00000474381	Transcript	downstream_gene_variant	-	-	-	-	-	-	371	-1	HLA-B	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31322923-31322928	GACCACAGCTACGG	ENSG00000234745	ENST00000434333	Transcript	downstream_gene_variant	-	-	-	-	-	-	356	-1	HLA-B	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31322923-31322928	GACCACAGCTACGG	ENSG00000271581	ENST00000603274	Transcript	upstream_gene_variant	-	-	-	-	-	-	1496	1	XXbac-BPG248L24.12	Clone_based_vega_gene	-	unprocessed_pseudogene	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31324522-31324545	CGCGGAGGCCTTCA	ENSG00000234745	ENST00000481849	Transcript	upstream_gene_variant	-	-	-	-	-	-	1940	-1	HLA-B	HGNC	4932	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31324522-31324545	CGCGGAGGCCTTCA	ENSG00000234745	ENST00000463574	Transcript	upstream_gene_variant	-	-	-	-	-	-	944	-1	HLA-B	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31324522-31324545	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31324522-31324545	CGCGGAGGCCTTCA	ENSG00000234745	ENST00000498007	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	284-306	-	-	-	-	-	-	-1	HLA-B	HGNC	-	retained_intron	-	-	-	ENST00000498007.1:n.284_306delCACAGATCTACAAGGCCCAGGCAinsTGAAGGCCTCCGCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31324522-31324545	CGCGGAGGCCTTCA	ENSG00000234745	ENST00000497377	Transcript	upstream_gene_variant	-	-	-	-	-	-	1670	-1	HLA-B	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31324522-31324545	CGCGGAGGCCTTCA	ENSG00000234745	ENST00000474381	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	138-160	-	-	-	-	-	-	-1	HLA-B	HGNC	-	retained_intron	-	-	-	ENST00000474381.1:n.138_160delCACAGATCTACAAGGCCCAGGCAinsTGAAGGCCTCCGCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31324522-31324545	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31324522-31324545	CGCGGAGGCCTTCA	ENSG00000271581	ENST00000603274	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	100-122	-	-	-	-	-	-	1	XXbac-BPG248L24.12	Clone_based_vega_gene	-	unprocessed_pseudogene	-	-	-	ENST00000603274.1:n.100_122delTGCCTGGGCCTTGTAGATCTGTGinsCGCGGAGGCCTTCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31324522-31324545	CGCGGAGGCCTTCA	-	ENSR00000487828	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023-31503024	TTGGGCACAAGG	ENSG00000198563	ENST00000417556	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	DDX39B	HGNC	-	protein_coding	-	-	-	ENST00000417556.2:c.780+120delGinsCCTTGTGCCCAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023-31503024	TTGGGCACAAGG	ENSG00000198563	ENST00000456976	Transcript	downstream_gene_variant	-	-	-	-	-	-	3572	-1	DDX39B	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023-31503024	TTGGGCACAAGG	ENSG00000198563	ENST00000427214	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	DDX39B	HGNC	-	protein_coding	-	-	-	ENST00000427214.1:c.735+120delGinsCCTTGTGCCCAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023-31503024	TTGGGCACAAGG	ENSG00000198563	ENST00000431908	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	DDX39B	HGNC	-	protein_coding	-	-	-	ENST00000431908.1:c.501+120delGinsCCTTGTGCCCAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023-31503024	TTGGGCACAAGG	ENSG00000198563	ENST00000484566	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	DDX39B	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000484566.1:c.109+120delGinsCCTTGTGCCCAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023-31503024	TTGGGCACAAGG	ENSG00000254870	ENST00000376185	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	ATP6V1G2-DDX39B	HGNC	41999	nonsense_mediated_decay	-	-	-	ENST00000376185.1:c.*949+120delGinsCCTTGTGCCCAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023-31503024	TTGGGCACAAGG	ENSG00000201785	ENST00000364915	Transcript	downstream_gene_variant	-	-	-	-	-	-	1127	-1	SNORD117	HGNC	32742	snoRNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023-31503024	TTGGGCACAAGG	ENSG00000198563	ENST00000462421	Transcript	upstream_gene_variant	-	-	-	-	-	-	4312	-1	DDX39B	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023-31503024	TTGGGCACAAGG	ENSG00000198563	ENST00000474961	Transcript	upstream_gene_variant	-	-	-	-	-	-	3503	-1	DDX39B	HGNC	13917	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023-31503024	TTGGGCACAAGG	ENSG00000198563	ENST00000415382	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	DDX39B	HGNC	-	protein_coding	-	-	-	ENST00000415382.2:c.501+120delGinsCCTTGTGCCCAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023-31503024	TTGGGCACAAGG	ENSG00000198563	ENST00000456662	Transcript	downstream_gene_variant	-	-	-	-	-	-	160	-1	DDX39B	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023-31503024	TTGGGCACAAGG	ENSG00000198563	ENST00000458640	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	DDX39B	HGNC	-	protein_coding	-	-	-	ENST00000458640.1:c.735+120delGinsCCTTGTGCCCAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023-31503024	TTGGGCACAAGG	ENSG00000198563	ENST00000449074	Transcript	downstream_gene_variant	-	-	-	-	-	-	1308	-1	DDX39B	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023-31503024	TTGGGCACAAGG	ENSG00000198563	ENST00000396172	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	DDX39B	HGNC	-	protein_coding	-	-	-	ENST00000396172.1:c.735+120delGinsCCTTGTGCCCAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023-31503024	TTGGGCACAAGG	ENSG00000198563	ENST00000449757	Transcript	downstream_gene_variant	-	-	-	-	-	-	1376	-1	DDX39B	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023-31503024	TTGGGCACAAGG	ENSG00000198563	ENST00000419020	Transcript	downstream_gene_variant	-	-	-	-	-	-	3635	-1	DDX39B	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023-31503024	TTGGGCACAAGG	ENSG00000198563	ENST00000481456	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	2324	-	-	-	-	-	-	-1	DDX39B	HGNC	-	retained_intron	-	-	-	ENST00000481456.1:n.2324delGinsCCTTGTGCCCAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023-31503024	TTGGGCACAAGG	ENSG00000198563	ENST00000419338	Transcript	downstream_gene_variant	-	-	-	-	-	-	148	-1	DDX39B	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023-31503024	TTGGGCACAAGG	ENSG00000198563	ENST00000453105	Transcript	frameshift_variant,feature_elongation	901	714	238	-	-	-	-	-1	DDX39B	HGNC	-	protein_coding	-	-	-	ENST00000453105.2:c.714delGinsCCTTGTGCCCAA	ENSP00000400328.2:p.Gly239LeufsTer6	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023-31503024	TTGGGCACAAGG	ENSG00000198563	ENST00000482195	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	DDX39B	HGNC	-	retained_intron	-	-	-	ENST00000482195.1:n.968+120delGinsCCTTGTGCCCAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023-31503024	TTGGGCACAAGG	ENSG00000198563	ENST00000428450	Transcript	downstream_gene_variant	-	-	-	-	-	-	1362	-1	DDX39B	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023-31503024	TTGGGCACAAGG	ENSG00000198563	ENST00000418897	Transcript	downstream_gene_variant	-	-	-	-	-	-	3584	-1	DDX39B	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023-31503024	TTGGGCACAAGG	ENSG00000198563	ENST00000417023	Transcript	upstream_gene_variant	-	-	-	-	-	-	736	-1	DDX39B	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023-31503024	TTGGGCACAAGG	ENSG00000198563	ENST00000462256	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	925	-	-	-	-	-	-	-1	DDX39B	HGNC	-	retained_intron	-	-	-	ENST00000462256.1:n.925delGinsCCTTGTGCCCAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023-31503024	TTGGGCACAAGG	ENSG00000198563	ENST00000428098	Transcript	downstream_gene_variant	-	-	-	-	-	-	141	-1	DDX39B	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023-31503024	TTGGGCACAAGG	ENSG00000198563	ENST00000478365	Transcript	upstream_gene_variant	-	-	-	-	-	-	3576	-1	DDX39B	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023-31503024	TTGGGCACAAGG	ENSG00000198563	ENST00000376177	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	DDX39B	HGNC	-	protein_coding	-	-	-	ENST00000376177.2:c.735+120delGinsCCTTGTGCCCAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023	TTGGGCACAAG	ENSG00000198563	ENST00000417556	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	DDX39B	HGNC	-	protein_coding	-	-	-	ENST00000417556.2:c.780+120_780+121insCTTGTGCCCAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023	TTGGGCACAAG	ENSG00000198563	ENST00000456976	Transcript	downstream_gene_variant	-	-	-	-	-	-	3572	-1	DDX39B	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023	TTGGGCACAAG	ENSG00000198563	ENST00000427214	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	DDX39B	HGNC	-	protein_coding	-	-	-	ENST00000427214.1:c.735+120_735+121insCTTGTGCCCAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023	TTGGGCACAAG	ENSG00000198563	ENST00000431908	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	DDX39B	HGNC	-	protein_coding	-	-	-	ENST00000431908.1:c.501+120_501+121insCTTGTGCCCAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023	TTGGGCACAAG	ENSG00000198563	ENST00000484566	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	DDX39B	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000484566.1:c.109+120_109+121insCTTGTGCCCAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023	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	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023	TTGGGCACAAG	ENSG00000201785	ENST00000364915	Transcript	downstream_gene_variant	-	-	-	-	-	-	1127	-1	SNORD117	HGNC	32742	snoRNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023	TTGGGCACAAG	ENSG00000198563	ENST00000462421	Transcript	upstream_gene_variant	-	-	-	-	-	-	4311	-1	DDX39B	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023	TTGGGCACAAG	ENSG00000198563	ENST00000474961	Transcript	upstream_gene_variant	-	-	-	-	-	-	3502	-1	DDX39B	HGNC	13917	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023	TTGGGCACAAG	ENSG00000198563	ENST00000415382	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	DDX39B	HGNC	-	protein_coding	-	-	-	ENST00000415382.2:c.501+120_501+121insCTTGTGCCCAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023	TTGGGCACAAG	ENSG00000198563	ENST00000456662	Transcript	downstream_gene_variant	-	-	-	-	-	-	160	-1	DDX39B	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023	TTGGGCACAAG	ENSG00000198563	ENST00000458640	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	DDX39B	HGNC	-	protein_coding	-	-	-	ENST00000458640.1:c.735+120_735+121insCTTGTGCCCAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023	TTGGGCACAAG	ENSG00000198563	ENST00000449074	Transcript	downstream_gene_variant	-	-	-	-	-	-	1308	-1	DDX39B	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023	TTGGGCACAAG	ENSG00000198563	ENST00000396172	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	DDX39B	HGNC	-	protein_coding	-	-	-	ENST00000396172.1:c.735+120_735+121insCTTGTGCCCAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023	TTGGGCACAAG	ENSG00000198563	ENST00000449757	Transcript	downstream_gene_variant	-	-	-	-	-	-	1376	-1	DDX39B	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023	TTGGGCACAAG	ENSG00000198563	ENST00000419020	Transcript	downstream_gene_variant	-	-	-	-	-	-	3635	-1	DDX39B	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023	TTGGGCACAAG	ENSG00000198563	ENST00000481456	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	2324-2325	-	-	-	-	-	-	-1	DDX39B	HGNC	-	retained_intron	-	-	-	ENST00000481456.1:n.2324_2325insCTTGTGCCCAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023	TTGGGCACAAG	ENSG00000198563	ENST00000419338	Transcript	downstream_gene_variant	-	-	-	-	-	-	148	-1	DDX39B	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023	TTGGGCACAAG	ENSG00000198563	ENST00000482195	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	DDX39B	HGNC	-	retained_intron	-	-	-	ENST00000482195.1:n.968+120_968+121insCTTGTGCCCAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023	TTGGGCACAAG	ENSG00000198563	ENST00000428450	Transcript	downstream_gene_variant	-	-	-	-	-	-	1362	-1	DDX39B	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023	TTGGGCACAAG	ENSG00000198563	ENST00000418897	Transcript	downstream_gene_variant	-	-	-	-	-	-	3584	-1	DDX39B	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023	TTGGGCACAAG	ENSG00000198563	ENST00000417023	Transcript	upstream_gene_variant	-	-	-	-	-	-	735	-1	DDX39B	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023	TTGGGCACAAG	ENSG00000198563	ENST00000462256	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	925-926	-	-	-	-	-	-	-1	DDX39B	HGNC	-	retained_intron	-	-	-	ENST00000462256.1:n.925_926insCTTGTGCCCAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023	TTGGGCACAAG	ENSG00000198563	ENST00000428098	Transcript	downstream_gene_variant	-	-	-	-	-	-	141	-1	DDX39B	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023	TTGGGCACAAG	ENSG00000198563	ENST00000478365	Transcript	upstream_gene_variant	-	-	-	-	-	-	3575	-1	DDX39B	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31503023	TTGGGCACAAG	ENSG00000198563	ENST00000376177	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	DDX39B	HGNC	-	protein_coding	-	-	-	ENST00000376177.2:c.735+120_735+121insCTTGTGCCCAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31736973	GACTCACCTGG	ENSG00000204410	ENST00000534153	Transcript	downstream_gene_variant	-	-	-	-	-	-	4351	1	MSH5	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31736973	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31736973	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31736973	GACTCACCTGG	ENSG00000255152	ENST00000498473	Transcript	downstream_gene_variant	-	-	-	-	-	-	4346	1	MSH5-SAPCD1	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31736973	GACTCACCTGG	ENSG00000204396	ENST00000487013	Transcript	downstream_gene_variant	-	-	-	-	-	-	2073	-1	VWA7	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31736973	GACTCACCTGG	ENSG00000228727	ENST00000494299	Transcript	downstream_gene_variant	-	-	-	-	-	-	4897	1	SAPCD1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31736973	GACTCACCTGG	ENSG00000204396	ENST00000486423	Transcript	upstream_gene_variant	-	-	-	-	-	-	1509	-1	VWA7	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31736973	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31736973	GACTCACCTGG	ENSG00000204396	ENST00000467576	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	1187-1188	-	-	-	-	-	-	-1	VWA7	HGNC	-	processed_transcript	-	-	-	ENST00000467576.1:n.1187_1188insCCAGGTGAGTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31736973	GACTCACCTGG	ENSG00000228727	ENST00000415669	Transcript	downstream_gene_variant	-	-	-	-	-	-	4345	1	SAPCD1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31736973	GACTCACCTGG	ENSG00000235663	ENST00000419679	Transcript	upstream_gene_variant	-	-	-	-	-	-	3608	-1	SAPCD1-AS1	HGNC	39824	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31736973	GACTCACCTGG	ENSG00000255152	ENST00000493662	Transcript	downstream_gene_variant	-	-	-	-	-	-	4346	1	MSH5-SAPCD1	HGNC	41994	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31736973	GACTCACCTGG	ENSG00000255152	ENST00000476085	Transcript	downstream_gene_variant	-	-	-	-	-	-	4345	1	MSH5-SAPCD1	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31736973	GACTCACCTGG	ENSG00000228727	ENST00000425424	Transcript	downstream_gene_variant	-	-	-	-	-	-	4351	1	SAPCD1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31736973-31736978	GACTCACCTGGTACTC	ENSG00000204410	ENST00000534153	Transcript	downstream_gene_variant	-	-	-	-	-	-	4352	1	MSH5	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31736973-31736978	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31736973-31736978	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31736973-31736978	GACTCACCTGGTACTC	ENSG00000255152	ENST00000498473	Transcript	downstream_gene_variant	-	-	-	-	-	-	4347	1	MSH5-SAPCD1	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31736973-31736978	GACTCACCTGGTACTC	ENSG00000204396	ENST00000487013	Transcript	downstream_gene_variant	-	-	-	-	-	-	2069	-1	VWA7	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31736973-31736978	GACTCACCTGGTACTC	ENSG00000228727	ENST00000494299	Transcript	downstream_gene_variant	-	-	-	-	-	-	4898	1	SAPCD1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31736973-31736978	GACTCACCTGGTACTC	ENSG00000204396	ENST00000486423	Transcript	upstream_gene_variant	-	-	-	-	-	-	1510	-1	VWA7	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31736973-31736978	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31736973-31736978	GACTCACCTGGTACTC	ENSG00000204396	ENST00000467576	Transcript	splice_region_variant,non_coding_exon_variant,nc_transcript_variant,feature_elongation	1183-1187	-	-	-	-	-	-	-1	VWA7	HGNC	-	processed_transcript	-	-	-	ENST00000467576.1:n.1183_1187delAACATinsGAGTACCAGGTGAGTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31736973-31736978	GACTCACCTGGTACTC	ENSG00000228727	ENST00000415669	Transcript	downstream_gene_variant	-	-	-	-	-	-	4346	1	SAPCD1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31736973-31736978	GACTCACCTGGTACTC	ENSG00000235663	ENST00000419679	Transcript	upstream_gene_variant	-	-	-	-	-	-	3609	-1	SAPCD1-AS1	HGNC	39824	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31736973-31736978	GACTCACCTGGTACTC	ENSG00000255152	ENST00000493662	Transcript	downstream_gene_variant	-	-	-	-	-	-	4347	1	MSH5-SAPCD1	HGNC	41994	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31736973-31736978	GACTCACCTGGTACTC	ENSG00000255152	ENST00000476085	Transcript	downstream_gene_variant	-	-	-	-	-	-	4346	1	MSH5-SAPCD1	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:31736973-31736978	GACTCACCTGGTACTC	ENSG00000228727	ENST00000425424	Transcript	downstream_gene_variant	-	-	-	-	-	-	4352	1	SAPCD1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:76022695-76022709	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:76022695-76022709	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:76022695-76022709	ATTCCTA	ENSG00000118407	ENST00000498523	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2358-2371	-	-	-	-	-	-	-1	FILIP1	HGNC	-	processed_transcript	-	-	-	ENST00000498523.1:n.2358_2371delAATCAGAAACCAAGinsTAGGAAT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:76022695-76022709	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:108243106-108243125	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	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:108243106-108243125	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	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:108243106-108243125	TGGCTCCCTGGGGAAAA	ENSG00000025796	ENST00000484803	Transcript	splice_acceptor_variant,non_coding_exon_variant,intron_variant,nc_transcript_variant,feature_truncation	?-268	-	-	-	-	-	-	-1	SEC63	HGNC	-	retained_intron	-	-	-	ENST00000484803.1:n.262-12_268delGTTTTTCCCCAGGGAGCCAinsTTTTCCCCAGGGAGCCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:108243106-108243125	GGGCCCCCAGGGGGGGG	ENSG00000025796	ENST00000484803	Transcript	splice_acceptor_variant,non_coding_exon_variant,intron_variant,nc_transcript_variant,feature_truncation	?-268	-	-	-	-	-	-	-1	SEC63	HGNC	-	retained_intron	-	-	-	ENST00000484803.1:n.262-12_268delGTTTTTCCCCAGGGAGCCAinsCCCCCCCCTGGGGGCCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:108243106-108243125	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	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:108243106-108243125	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	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:108243106-108243125	TGGCTCCCTGGGGAAAA	ENSG00000025796	ENST00000446496	Transcript	downstream_gene_variant	-	-	-	-	-	-	2897	-1	SEC63	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:108243106-108243125	GGGCCCCCAGGGGGGGG	ENSG00000025796	ENST00000446496	Transcript	downstream_gene_variant	-	-	-	-	-	-	2897	-1	SEC63	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:116937770-116937775	CACGCCCCTTTCATCCA	ENSG00000111834	ENST00000368581	Transcript	5_prime_UTR_variant,feature_elongation	130-134	-	-	-	-	-	-	1	RSPH4A	HGNC	21558	protein_coding	-	-	-	ENST00000368581.4:c.-16_-12delTTCTTinsCACGCCCCTTTCATCCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:116937770-116937775	CACGCCCCTTTCATCCA	ENSG00000111834	ENST00000229554	Transcript	5_prime_UTR_variant,feature_elongation	122-126	-	-	-	-	-	-	1	RSPH4A	HGNC	-	protein_coding	-	-	-	ENST00000229554.5:c.-16_-12delTTCTTinsCACGCCCCTTTCATCCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:116937770-116937775	CACGCCCCTTTCATCCA	ENSG00000111834	ENST00000368580	Transcript	upstream_gene_variant	-	-	-	-	-	-	12	1	RSPH4A	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:116937770-116937775	CACGCCCCTTTCATCCA	-	ENSR00001225324	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:117113761	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:117113761	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:117113761	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	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:117113761	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:117113761	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	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:117113761	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:117113761	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:117113761-117113765	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:117113761-117113765	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:117113761-117113765	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:132030021-132030052	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:132030021-132030052	ACCA	ENSG00000154269	ENST00000358229	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	ENPP3	HGNC	-	protein_coding	-	-	-	ENST00000358229.5:c.1413-9790_1413-9760delGCCCCTTGTATCCACTGGAAACAATGGACCGinsACCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:132030021-132030052	ACCA	ENSG00000154269	ENST00000357639	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	ENPP3	HGNC	-	protein_coding	-	-	-	ENST00000357639.3:c.1413-9790_1413-9760delGCCCCTTGTATCCACTGGAAACAATGGACCGinsACCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:132030021-132030052	ACCA	ENSG00000154269	ENST00000414305	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	ENPP3	HGNC	-	protein_coding	-	-	-	ENST00000414305.1:c.1413-9790_1413-9760delGCCCCTTGTATCCACTGGAAACAATGGACCGinsACCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:159660779-159660807	CCACCACCCA	ENSG00000235086	ENST00000419703	Transcript	upstream_gene_variant	-	-	-	-	-	-	1011	1	FNDC1-IT1	HGNC	41460	sense_intronic	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:159660779-159660807	CCACCACCCG	ENSG00000235086	ENST00000419703	Transcript	upstream_gene_variant	-	-	-	-	-	-	1011	1	FNDC1-IT1	HGNC	41460	sense_intronic	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:159660779-159660807	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:159660779-159660807	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:159660779-159660807	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:159660779-159660807	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:159660779-159660807	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:159660779-159660807	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:159660779-159660797	-	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	-	-	-	-
.	6:159660779-159660797	-	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	-	-	-	-
.	6:159660779-159660797	-	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	-	-	-	-
.	6:159660779-159660797	-	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	-	-	-	-
.	6:170592484-170592494	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170592484-170592494	T	ENSG00000227508	ENST00000438622	Transcript	downstream_gene_variant	-	-	-	-	-	-	3928	1	RP5-894D12.3	Clone_based_vega_gene	-	lincRNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170592484-170592494	T	ENSG00000227508	ENST00000607074	Transcript	downstream_gene_variant	-	-	-	-	-	-	3510	1	RP5-894D12.3	Clone_based_vega_gene	-	lincRNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170592484-170592494	T	ENSG00000227508	ENST00000422894	Transcript	downstream_gene_variant	-	-	-	-	-	-	3928	1	RP5-894D12.3	Clone_based_vega_gene	-	lincRNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871046-170871055	-	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871046-170871055	-	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871046-170871055	-	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871046-170871055	-	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871046-170871055	-	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871046-170871058	-	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871046-170871058	-	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871046-170871058	-	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871046-170871058	-	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871046-170871058	-	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871046-170871073	-	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871046-170871073	-	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871046-170871073	-	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871046-170871073	-	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871046-170871073	-	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	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051-170871061	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051-170871061	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051-170871061	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051-170871061	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051-170871061	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051-170871064	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051-170871064	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051-170871064	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051-170871064	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051-170871064	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051-170871067	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051-170871067	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051-170871067	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051-170871067	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051-170871067	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051-170871073	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051-170871073	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051-170871073	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051-170871073	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051-170871073	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051-170871076	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051-170871076	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051-170871076	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051-170871076	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051-170871076	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051-170871082	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051-170871082	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051-170871082	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051-170871082	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	6:170871051-170871082	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	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:4820843-4820847	TGCTGTAAACTGTAACTGTAAA	ENSG00000242802	ENST00000477680	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	rs397704705	-	1	AP5Z1	HGNC	-	retained_intron	-	-	-	ENST00000477680.1:n.125-2103_125-2100delGGATinsTGCTGTAAACTGTAACTGTAAA	-	-	-	-	-	-	-	-	pathogenic	-	-	-	-	-
.	7:4820843-4820847	TGCTGTAAACTGTAACTGTAAA	ENSG00000242802	ENST00000491375	Transcript	upstream_gene_variant	-	-	-	-	-	rs397704705	2107	1	AP5Z1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	pathogenic	-	-	-	-	-
.	7:4820843-4820847	TGCTGTAAACTGTAACTGTAAA	ENSG00000242802	ENST00000401897	Transcript	stop_gained,inframe_insertion	163-166	80-83	27-28	RI/LL*TVTVN	cGGATc/cTGCTGTAAACTGTAACTGTAAAc	rs397704705	-	1	AP5Z1	HGNC	-	protein_coding	-	-	-	ENST00000401897.1:c.80_83delGGATinsTGCTGTAAACTGTAACTGTAAA	ENSP00000384980.1:p.Arg27_Ile28delinsLeuLeuTerThrValThrValAsn	-	-	-	-	-	-	-	pathogenic	-	-	-	-	-
.	7:4820843-4820847	TGCTGTAAACTGTAACTGTAAA	ENSG00000242802	ENST00000348624	Transcript	stop_gained,inframe_insertion	174-177	80-83	27-28	RI/LL*TVTVN	cGGATc/cTGCTGTAAACTGTAACTGTAAAc	rs397704705	-	1	AP5Z1	HGNC	22197	protein_coding	-	-	-	ENST00000348624.4:c.80_83delGGATinsTGCTGTAAACTGTAACTGTAAA	ENSP00000297562.4:p.Arg27_Ile28delinsLeuLeuTerThrValThrValAsn	-	-	-	-	-	-	-	pathogenic	-	-	-	-	-
.	7:4820843-4820847	TGCTGTAAACTGTAACTGTAAA	ENSG00000242802	ENST00000496303	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	144-147	-	-	-	-	rs397704705	-	1	AP5Z1	HGNC	-	retained_intron	-	-	-	ENST00000496303.1:n.144_147delGGATinsTGCTGTAAACTGTAACTGTAAA	-	-	-	-	-	-	-	-	pathogenic	-	-	-	-	-
.	7:6037018-6037024	CTTCACACACA	ENSG00000122512	ENST00000265849	Transcript	frameshift_variant,feature_elongation	842-847	736-741	246-247	-	-	MMR_c.736_741delCCCCCTins11,MMR_c.736_741delCCCCCTinsTGTGTGTGAAG,MMR_complex_77,MMR_complex_81,MMR_complex_82,rs267608150	-	-1	PMS2	HGNC	9122	protein_coding	-	-	TIGRFAM_domain:TIGR00585,Superfamily_domains:SSF54211	ENST00000265849.7:c.736_741delCCCCCTinsTGTGTGTGAAG	ENSP00000265849.7:p.Pro246CysfsTer3	-	-	-	-	-	-	-	pathogenic	-	-	-	-	-
.	7:6037018-6037024	CTTCACACACA	ENSG00000122512	ENST00000382321	Transcript	frameshift_variant,feature_elongation	736-741	736-741	246-247	-	-	MMR_c.736_741delCCCCCTins11,MMR_c.736_741delCCCCCTinsTGTGTGTGAAG,MMR_complex_77,MMR_complex_81,MMR_complex_82,rs267608150	-	-1	PMS2	HGNC	-	protein_coding	-	-	TIGRFAM_domain:TIGR00585	ENST00000382321.4:c.736_741delCCCCCTinsTGTGTGTGAAG	ENSP00000371758.4:p.Pro246CysfsTer3	-	-	-	-	-	-	-	pathogenic	-	-	-	-	-
.	7:6037018-6037024	CTTCACACACA	ENSG00000122512	ENST00000469652	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	MMR_c.736_741delCCCCCTins11,MMR_c.736_741delCCCCCTinsTGTGTGTGAAG,MMR_complex_77,MMR_complex_81,MMR_complex_82,rs267608150	-	-1	PMS2	HGNC	-	processed_transcript	-	-	-	ENST00000469652.1:n.62+8600_62+8605delCCCCCTinsTGTGTGTGAAG	-	-	-	-	-	-	-	-	pathogenic	-	-	-	-	-
.	7:6037018-6037024	CTTCACACACA	ENSG00000122512	ENST00000441476	Transcript	frameshift_variant,feature_elongation	418-423	418-423	140-141	-	-	MMR_c.736_741delCCCCCTins11,MMR_c.736_741delCCCCCTinsTGTGTGTGAAG,MMR_complex_77,MMR_complex_81,MMR_complex_82,rs267608150	-	-1	PMS2	HGNC	-	protein_coding	-	-	Superfamily_domains:SSF54211	ENST00000441476.2:c.418_423delCCCCCTinsTGTGTGTGAAG	ENSP00000392843.2:p.Pro140CysfsTer3	-	-	-	-	-	-	-	pathogenic	-	-	-	-	-
.	7:6037018-6037024	CTTCACACACA	ENSG00000122512	ENST00000380416	Transcript	downstream_gene_variant	-	-	-	-	-	MMR_c.736_741delCCCCCTins11,MMR_c.736_741delCCCCCTinsTGTGTGTGAAG,MMR_complex_77,MMR_complex_81,MMR_complex_82,rs267608150	4573	-1	PMS2	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	pathogenic	-	-	-	-	-
.	7:6037018-6037024	CTTCACACACA	ENSG00000122512	ENST00000406569	Transcript	frameshift_variant,feature_elongation	736-741	736-741	246-247	-	-	MMR_c.736_741delCCCCCTins11,MMR_c.736_741delCCCCCTinsTGTGTGTGAAG,MMR_complex_77,MMR_complex_81,MMR_complex_82,rs267608150	-	-1	PMS2	HGNC	-	protein_coding	-	-	TIGRFAM_domain:TIGR00585,Superfamily_domains:SSF54211	ENST00000406569.3:c.736_741delCCCCCTinsTGTGTGTGAAG	ENSP00000384308.3:p.Pro246CysfsTer3	-	-	-	-	-	-	-	pathogenic	-	-	-	-	-
.	7:6037018-6037024	CTTCACACACA	-	ENSR00000681539	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	MMR_c.736_741delCCCCCTins11,MMR_c.736_741delCCCCCTinsTGTGTGTGAAG,MMR_complex_77,MMR_complex_81,MMR_complex_82,rs267608150	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	pathogenic	-	-	-	-	-
.	7:6037018-6037024	CTTCACACACA	-	MA0139.1	MotifFeature	TF_binding_site_variant	-	-	-	-	-	MMR_c.736_741delCCCCCTins11,MMR_c.736_741delCCCCCTinsTGTGTGTGAAG,MMR_complex_77,MMR_complex_81,MMR_complex_82,rs267608150	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	pathogenic	-	Jaspar_Matrix_CTCF:MA0139.1	9	N	-
.	7:8196567-8196589	-	ENSG00000003147	ENST00000490041	Transcript	downstream_gene_variant	-	-	-	-	-	-	1372	-1	ICA1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196567-8196589	AAAG	ENSG00000003147	ENST00000490041	Transcript	downstream_gene_variant	-	-	-	-	-	-	1372	-1	ICA1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196567-8196589	-	ENSG00000003147	ENST00000486677	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	-1	ICA1	HGNC	-	processed_transcript	-	-	-	ENST00000486677.1:n.53-28817_53-28796delCTTTCTTTTTTTTTTTTTTTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196567-8196589	AAAG	ENSG00000003147	ENST00000486677	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	-1	ICA1	HGNC	-	processed_transcript	-	-	-	ENST00000486677.1:n.53-28817_53-28796delCTTTCTTTTTTTTTTTTTTTTTinsCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196567-8196589	-	ENSG00000003147	ENST00000317367	Transcript	downstream_gene_variant	-	-	-	-	-	-	157	-1	ICA1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196567-8196589	AAAG	ENSG00000003147	ENST00000317367	Transcript	downstream_gene_variant	-	-	-	-	-	-	157	-1	ICA1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196567-8196589	-	ENSG00000003147	ENST00000470696	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	-1	ICA1	HGNC	-	retained_intron	-	-	-	ENST00000470696.1:n.649+157_649+178delCTTTCTTTTTTTTTTTTTTTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196567-8196589	AAAG	ENSG00000003147	ENST00000470696	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	-1	ICA1	HGNC	-	retained_intron	-	-	-	ENST00000470696.1:n.649+157_649+178delCTTTCTTTTTTTTTTTTTTTTTinsCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196567-8196589	-	ENSG00000003147	ENST00000339809	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	-1	ICA1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000339809.6:c.705+1568_705+1589delCTTTCTTTTTTTTTTTTTTTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196567-8196589	AAAG	ENSG00000003147	ENST00000339809	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	-1	ICA1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000339809.6:c.705+1568_705+1589delCTTTCTTTTTTTTTTTTTTTTTinsCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196567-8196589	-	ENSG00000265212	ENST00000577980	Transcript	upstream_gene_variant	-	-	-	-	-	-	1916	-1	AC007009.2	Clone_based_ensembl_gene	-	miRNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196567-8196589	AAAG	ENSG00000265212	ENST00000577980	Transcript	upstream_gene_variant	-	-	-	-	-	-	1916	-1	AC007009.2	Clone_based_ensembl_gene	-	miRNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196567-8196589	-	ENSG00000003147	ENST00000422063	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ICA1	HGNC	-	protein_coding	-	-	-	ENST00000422063.2:c.804+157_804+178delCTTTCTTTTTTTTTTTTTTTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196567-8196589	AAAG	ENSG00000003147	ENST00000422063	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ICA1	HGNC	-	protein_coding	-	-	-	ENST00000422063.2:c.804+157_804+178delCTTTCTTTTTTTTTTTTTTTTTinsCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196567-8196589	-	ENSG00000003147	ENST00000396675	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ICA1	HGNC	-	protein_coding	-	-	-	ENST00000396675.3:c.804+157_804+178delCTTTCTTTTTTTTTTTTTTTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196567-8196589	AAAG	ENSG00000003147	ENST00000396675	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ICA1	HGNC	-	protein_coding	-	-	-	ENST00000396675.3:c.804+157_804+178delCTTTCTTTTTTTTTTTTTTTTTinsCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196567-8196589	-	ENSG00000003147	ENST00000455539	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	-1	ICA1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000455539.1:c.*754+157_*754+178delCTTTCTTTTTTTTTTTTTTTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196567-8196589	AAAG	ENSG00000003147	ENST00000455539	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	-1	ICA1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000455539.1:c.*754+157_*754+178delCTTTCTTTTTTTTTTTTTTTTTinsCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196567-8196589	-	ENSG00000003147	ENST00000407906	Transcript	frameshift_variant,feature_truncation	1213-1234	961-982	321-328	-	-	-	-	-1	ICA1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,PROSITE_profiles:PS50314	ENST00000407906.1:c.961_982delCTTTCTTTTTTTTTTTTTTTTT	ENSP00000386021.1:p.Leu321PhefsTer11	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196567-8196589	AAAG	ENSG00000003147	ENST00000407906	Transcript	inframe_deletion	1213-1234	961-982	321-328	LSFFFFFF/LF	CTTTCTTTTTTTTTTTTTTTTTtt/CTTTtt	-	-	-1	ICA1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,PROSITE_profiles:PS50314	ENST00000407906.1:c.961_982delCTTTCTTTTTTTTTTTTTTTTTinsCTTT	ENSP00000386021.1:p.Ser322_Phe327del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196567-8196589	-	ENSG00000003147	ENST00000265577	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ICA1	HGNC	-	protein_coding	-	-	-	ENST00000265577.7:c.801+157_801+178delCTTTCTTTTTTTTTTTTTTTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196567-8196589	AAAG	ENSG00000003147	ENST00000265577	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ICA1	HGNC	-	protein_coding	-	-	-	ENST00000265577.7:c.801+157_801+178delCTTTCTTTTTTTTTTTTTTTTTinsCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196567-8196589	-	ENSG00000003147	ENST00000406470	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ICA1	HGNC	-	protein_coding	-	-	-	ENST00000406470.2:c.804+157_804+178delCTTTCTTTTTTTTTTTTTTTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196567-8196589	AAAG	ENSG00000003147	ENST00000406470	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ICA1	HGNC	-	protein_coding	-	-	-	ENST00000406470.2:c.804+157_804+178delCTTTCTTTTTTTTTTTTTTTTTinsCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196567-8196589	-	ENSG00000003147	ENST00000402384	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ICA1	HGNC	5343	protein_coding	-	-	-	ENST00000402384.3:c.804+157_804+178delCTTTCTTTTTTTTTTTTTTTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196567-8196589	AAAG	ENSG00000003147	ENST00000402384	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ICA1	HGNC	5343	protein_coding	-	-	-	ENST00000402384.3:c.804+157_804+178delCTTTCTTTTTTTTTTTTTTTTTinsCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196567-8196589	-	ENSG00000003147	ENST00000401396	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ICA1	HGNC	-	protein_coding	-	-	-	ENST00000401396.1:c.768+157_768+178delCTTTCTTTTTTTTTTTTTTTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196567-8196589	AAAG	ENSG00000003147	ENST00000401396	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ICA1	HGNC	-	protein_coding	-	-	-	ENST00000401396.1:c.768+157_768+178delCTTTCTTTTTTTTTTTTTTTTTinsCTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196570-8196591	GAC	ENSG00000003147	ENST00000490041	Transcript	downstream_gene_variant	-	-	-	-	-	-	1370	-1	ICA1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196570-8196591	GAC	ENSG00000003147	ENST00000486677	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	-1	ICA1	HGNC	-	processed_transcript	-	-	-	ENST00000486677.1:n.53-28819_53-28799delTTCTTTCTTTTTTTTTTTTTTinsGTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196570-8196591	GAC	ENSG00000003147	ENST00000317367	Transcript	downstream_gene_variant	-	-	-	-	-	-	155	-1	ICA1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196570-8196591	GAC	ENSG00000003147	ENST00000470696	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	-1	ICA1	HGNC	-	retained_intron	-	-	-	ENST00000470696.1:n.649+155_649+175delTTCTTTCTTTTTTTTTTTTTTinsGTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196570-8196591	GAC	ENSG00000003147	ENST00000339809	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	-1	ICA1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000339809.6:c.705+1566_705+1586delTTCTTTCTTTTTTTTTTTTTTinsGTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196570-8196591	GAC	ENSG00000265212	ENST00000577980	Transcript	upstream_gene_variant	-	-	-	-	-	-	1919	-1	AC007009.2	Clone_based_ensembl_gene	-	miRNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196570-8196591	GAC	ENSG00000003147	ENST00000422063	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ICA1	HGNC	-	protein_coding	-	-	-	ENST00000422063.2:c.804+155_804+175delTTCTTTCTTTTTTTTTTTTTTinsGTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196570-8196591	GAC	ENSG00000003147	ENST00000396675	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ICA1	HGNC	-	protein_coding	-	-	-	ENST00000396675.3:c.804+155_804+175delTTCTTTCTTTTTTTTTTTTTTinsGTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196570-8196591	GAC	ENSG00000003147	ENST00000455539	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	-1	ICA1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000455539.1:c.*754+155_*754+175delTTCTTTCTTTTTTTTTTTTTTinsGTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196570-8196591	GAC	ENSG00000003147	ENST00000407906	Transcript	feature_truncation	1211-1231	959-979	320-327	FLSFFFFF/CL	tTTCTTTCTTTTTTTTTTTTTTtt/tGTCtt	-	-	-1	ICA1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,PROSITE_profiles:PS50314	ENST00000407906.1:c.959_979delTTCTTTCTTTTTTTTTTTTTTinsGTC	ENSP00000386021.1:p.Phe320_Phe327delinsCysLeu	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196570-8196591	GAC	ENSG00000003147	ENST00000265577	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ICA1	HGNC	-	protein_coding	-	-	-	ENST00000265577.7:c.801+155_801+175delTTCTTTCTTTTTTTTTTTTTTinsGTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196570-8196591	GAC	ENSG00000003147	ENST00000406470	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ICA1	HGNC	-	protein_coding	-	-	-	ENST00000406470.2:c.804+155_804+175delTTCTTTCTTTTTTTTTTTTTTinsGTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196570-8196591	GAC	ENSG00000003147	ENST00000402384	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ICA1	HGNC	5343	protein_coding	-	-	-	ENST00000402384.3:c.804+155_804+175delTTCTTTCTTTTTTTTTTTTTTinsGTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196570-8196591	GAC	ENSG00000003147	ENST00000401396	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ICA1	HGNC	-	protein_coding	-	-	-	ENST00000401396.1:c.768+155_768+175delTTCTTTCTTTTTTTTTTTTTTinsGTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196570	G	ENSG00000003147	ENST00000490041	Transcript	downstream_gene_variant	-	-	-	-	-	rs147272214	1391	-1	ICA1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196570	G	ENSG00000003147	ENST00000486677	Transcript	intron_variant,nc_transcript_variant	-	-	-	-	-	rs147272214	-	-1	ICA1	HGNC	-	processed_transcript	-	-	-	ENST00000486677.1:n.53-28798T>C	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196570	G	ENSG00000003147	ENST00000317367	Transcript	downstream_gene_variant	-	-	-	-	-	rs147272214	176	-1	ICA1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196570	G	ENSG00000003147	ENST00000470696	Transcript	intron_variant,nc_transcript_variant	-	-	-	-	-	rs147272214	-	-1	ICA1	HGNC	-	retained_intron	-	-	-	ENST00000470696.1:n.649+176T>C	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196570	G	ENSG00000003147	ENST00000339809	Transcript	intron_variant,NMD_transcript_variant	-	-	-	-	-	rs147272214	-	-1	ICA1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000339809.6:c.705+1587T>C	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196570	G	ENSG00000265212	ENST00000577980	Transcript	upstream_gene_variant	-	-	-	-	-	rs147272214	1918	-1	AC007009.2	Clone_based_ensembl_gene	-	miRNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196570	G	ENSG00000003147	ENST00000422063	Transcript	intron_variant	-	-	-	-	-	rs147272214	-	-1	ICA1	HGNC	-	protein_coding	-	-	-	ENST00000422063.2:c.804+176T>C	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196570	G	ENSG00000003147	ENST00000396675	Transcript	intron_variant	-	-	-	-	-	rs147272214	-	-1	ICA1	HGNC	-	protein_coding	-	-	-	ENST00000396675.3:c.804+176T>C	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196570	G	ENSG00000003147	ENST00000455539	Transcript	intron_variant,NMD_transcript_variant	-	-	-	-	-	rs147272214	-	-1	ICA1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000455539.1:c.*754+176T>C	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196570	G	ENSG00000003147	ENST00000407906	Transcript	missense_variant	1232	980	327	F/S	tTt/tCt	rs147272214	-	-1	ICA1	HGNC	-	protein_coding	-	unknown(0)	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,PROSITE_profiles:PS50314	ENST00000407906.1:c.980T>C	ENSP00000386021.1:p.Phe327Ser	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196570	G	ENSG00000003147	ENST00000265577	Transcript	intron_variant	-	-	-	-	-	rs147272214	-	-1	ICA1	HGNC	-	protein_coding	-	-	-	ENST00000265577.7:c.801+176T>C	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196570	G	ENSG00000003147	ENST00000406470	Transcript	intron_variant	-	-	-	-	-	rs147272214	-	-1	ICA1	HGNC	-	protein_coding	-	-	-	ENST00000406470.2:c.804+176T>C	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196570	G	ENSG00000003147	ENST00000402384	Transcript	intron_variant	-	-	-	-	-	rs147272214	-	-1	ICA1	HGNC	5343	protein_coding	-	-	-	ENST00000402384.3:c.804+176T>C	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:8196570	G	ENSG00000003147	ENST00000401396	Transcript	intron_variant	-	-	-	-	-	rs147272214	-	-1	ICA1	HGNC	-	protein_coding	-	-	-	ENST00000401396.1:c.768+176T>C	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:27135308-27135317	-	ENSG00000105996	ENST00000222718	Transcript	downstream_gene_variant	-	-	-	-	-	-	4404	-1	HOXA2	HGNC	5103	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:27135308-27135317	-	ENSG00000233429	ENST00000425358	Transcript	upstream_gene_variant	-	-	-	-	-	-	535	1	HOTAIRM1	HGNC	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:27135308-27135317	-	ENSG00000233429	ENST00000429611	Transcript	upstream_gene_variant	-	-	-	-	-	-	426	1	HOTAIRM1	HGNC	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:27135308-27135317	-	ENSG00000233429	ENST00000428939	Transcript	upstream_gene_variant	-	-	-	-	-	-	3141	1	HOTAIRM1	HGNC	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:27135308-27135317	-	ENSG00000105991	ENST00000343060	Transcript	inframe_deletion	277-285	215-223	72-75	HRHP/P	cATCGCCACCcc/ccc	-	-	-1	HOXA1	HGNC	5099	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50316	ENST00000343060.4:c.215_223delATCGCCACC	ENSP00000343246.4:p.His72_His74del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:27135308-27135317	-	ENSG00000105991	ENST00000355633	Transcript	inframe_deletion	299-307	215-223	72-75	HRHP/P	cATCGCCACCcc/ccc	-	-	-1	HOXA1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50316	ENST00000355633.5:c.215_223delATCGCCACC	ENSP00000347851.5:p.His72_His74del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:27135308-27135317	-	ENSG00000233429	ENST00000593300	Transcript	upstream_gene_variant	-	-	-	-	-	-	3921	1	HOTAIRM1	HGNC	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:27135308-27135317	-	ENSG00000233429	ENST00000495032	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	HOTAIRM1	HGNC	37117	antisense	-	-	-	ENST00000495032.1:n.26+18_26+26delGGTGGCGAT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:27135308-27135317	-	ENSG00000233429	ENST00000434063	Transcript	upstream_gene_variant	-	-	-	-	-	-	396	1	HOTAIRM1	HGNC	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:27135308-27135317	-	-	ENSR00000623592	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:27135310-27135316	-	ENSG00000105996	ENST00000222718	Transcript	downstream_gene_variant	-	-	-	-	-	-	4405	-1	HOXA2	HGNC	5103	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:27135310-27135316	-	ENSG00000233429	ENST00000425358	Transcript	upstream_gene_variant	-	-	-	-	-	-	536	1	HOTAIRM1	HGNC	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:27135310-27135316	-	ENSG00000233429	ENST00000429611	Transcript	upstream_gene_variant	-	-	-	-	-	-	427	1	HOTAIRM1	HGNC	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:27135310-27135316	-	ENSG00000233429	ENST00000428939	Transcript	upstream_gene_variant	-	-	-	-	-	-	3142	1	HOTAIRM1	HGNC	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:27135310-27135316	-	ENSG00000105991	ENST00000343060	Transcript	inframe_deletion	278-283	216-221	72-74	HRH/H	caTCGCCAc/cac	-	-	-1	HOXA1	HGNC	5099	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50316	ENST00000343060.4:c.216_221delTCGCCA	ENSP00000343246.4:p.Arg73_His74del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:27135310-27135316	-	ENSG00000105991	ENST00000355633	Transcript	inframe_deletion	300-305	216-221	72-74	HRH/H	caTCGCCAc/cac	-	-	-1	HOXA1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50316	ENST00000355633.5:c.216_221delTCGCCA	ENSP00000347851.5:p.Arg73_His74del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:27135310-27135316	-	ENSG00000233429	ENST00000593300	Transcript	upstream_gene_variant	-	-	-	-	-	-	3922	1	HOTAIRM1	HGNC	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:27135310-27135316	-	ENSG00000233429	ENST00000495032	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	HOTAIRM1	HGNC	37117	antisense	-	-	-	ENST00000495032.1:n.26+20_26+25delTGGCGA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:27135310-27135316	-	ENSG00000233429	ENST00000434063	Transcript	upstream_gene_variant	-	-	-	-	-	-	397	1	HOTAIRM1	HGNC	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:27135310-27135316	-	-	ENSR00000623592	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:27135313-27135316	-	ENSG00000105996	ENST00000222718	Transcript	downstream_gene_variant	-	-	-	-	-	COSM1488496,rs368428758	4405	-1	HOXA2	HGNC	5103	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	7:27135313-27135316	-	ENSG00000233429	ENST00000425358	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1488496,rs368428758	536	1	HOTAIRM1	HGNC	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	7:27135313-27135316	-	ENSG00000233429	ENST00000429611	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1488496,rs368428758	427	1	HOTAIRM1	HGNC	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	7:27135313-27135316	-	ENSG00000233429	ENST00000428939	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1488496,rs368428758	3142	1	HOTAIRM1	HGNC	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	7:27135313-27135316	-	ENSG00000105991	ENST00000343060	Transcript	inframe_deletion	278-280	216-218	72-73	HR/H	caTCGc/cac	COSM1488496,rs368428758	-	-1	HOXA1	HGNC	5099	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50316	ENST00000343060.4:c.216_218delTCG	ENSP00000343246.4:p.Arg73del	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	7:27135313-27135316	-	ENSG00000105991	ENST00000355633	Transcript	inframe_deletion	300-302	216-218	72-73	HR/H	caTCGc/cac	COSM1488496,rs368428758	-	-1	HOXA1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50316	ENST00000355633.5:c.216_218delTCG	ENSP00000347851.5:p.Arg73del	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	7:27135313-27135316	-	ENSG00000233429	ENST00000593300	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1488496,rs368428758	3922	1	HOTAIRM1	HGNC	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	7:27135313-27135316	-	ENSG00000233429	ENST00000495032	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	COSM1488496,rs368428758	-	1	HOTAIRM1	HGNC	37117	antisense	-	-	-	ENST00000495032.1:n.26+23_26+25delCGA	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	7:27135313-27135316	-	ENSG00000233429	ENST00000434063	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1488496,rs368428758	397	1	HOTAIRM1	HGNC	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	7:27135313-27135316	-	-	ENSR00000623592	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	COSM1488496,rs368428758	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	7:27135313-27135316	TGATGGTGGTGG	ENSG00000105996	ENST00000222718	Transcript	downstream_gene_variant	-	-	-	-	-	COSM1488496,rs368428758	4405	-1	HOXA2	HGNC	5103	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	7:27135313-27135316	TGATGGTGGTGG	ENSG00000233429	ENST00000425358	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1488496,rs368428758	536	1	HOTAIRM1	HGNC	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	7:27135313-27135316	TGATGGTGGTGG	ENSG00000233429	ENST00000429611	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1488496,rs368428758	427	1	HOTAIRM1	HGNC	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	7:27135313-27135316	TGATGGTGGTGG	ENSG00000233429	ENST00000428939	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1488496,rs368428758	3142	1	HOTAIRM1	HGNC	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	7:27135313-27135316	TGATGGTGGTGG	ENSG00000105991	ENST00000343060	Transcript	inframe_insertion	278-280	216-218	72-73	HR/HHHHH	caTCGc/caCCACCACCATCAc	COSM1488496,rs368428758	-	-1	HOXA1	HGNC	5099	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50316	ENST00000343060.4:c.216_218delTCGinsCCACCACCATCA	ENSP00000343246.4:p.Arg73delinsHisHisHisHis	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	7:27135313-27135316	TGATGGTGGTGG	ENSG00000105991	ENST00000355633	Transcript	inframe_insertion	300-302	216-218	72-73	HR/HHHHH	caTCGc/caCCACCACCATCAc	COSM1488496,rs368428758	-	-1	HOXA1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50316	ENST00000355633.5:c.216_218delTCGinsCCACCACCATCA	ENSP00000347851.5:p.Arg73delinsHisHisHisHis	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	7:27135313-27135316	TGATGGTGGTGG	ENSG00000233429	ENST00000593300	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1488496,rs368428758	3922	1	HOTAIRM1	HGNC	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	7:27135313-27135316	TGATGGTGGTGG	ENSG00000233429	ENST00000495032	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	COSM1488496,rs368428758	-	1	HOTAIRM1	HGNC	37117	antisense	-	-	-	ENST00000495032.1:n.26+23_26+25delCGAinsTGATGGTGGTGG	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	7:27135313-27135316	TGATGGTGGTGG	ENSG00000233429	ENST00000434063	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1488496,rs368428758	397	1	HOTAIRM1	HGNC	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	7:27135313-27135316	TGATGGTGGTGG	-	ENSR00000623592	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	COSM1488496,rs368428758	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	7:65112494-65112531	GCTTTTTGCCCGCGC	ENSG00000232270	ENST00000430126	Transcript	upstream_gene_variant	-	-	-	-	-	-	246	1	INTS4L2	HGNC	22351	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112494-65112531	GCTTTTTGCCCCCGT	ENSG00000232270	ENST00000430126	Transcript	upstream_gene_variant	-	-	-	-	-	-	246	1	INTS4L2	HGNC	22351	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112494-65112531	GCTTTTTGCCCGCGC	ENSG00000232270	ENST00000433217	Transcript	upstream_gene_variant	-	-	-	-	-	-	263	1	INTS4L2	HGNC	-	transcribed_unprocessed_pseudogene	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112494-65112531	GCTTTTTGCCCCCGT	ENSG00000232270	ENST00000433217	Transcript	upstream_gene_variant	-	-	-	-	-	-	263	1	INTS4L2	HGNC	-	transcribed_unprocessed_pseudogene	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112494-65112531	GCTTTTTGCCCGCGC	ENSG00000269558	ENST00000593865	Transcript	frameshift_variant,feature_truncation	457-493	457-493	153-165	-	-	-	-	-1	AC104057.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000593865.1:c.457_493delACGGGGGCAAAAAGCCGCGGCGGCGCGGGCAAAAAGCinsGCGCGGGCAAAAAGC	ENSP00000469538.1:p.Thr153AlafsTer95	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112494-65112531	GCTTTTTGCCCCCGT	ENSG00000269558	ENST00000593865	Transcript	frameshift_variant,feature_truncation	457-493	457-493	153-165	-	-	-	-	-1	AC104057.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000593865.1:c.457_493delACGGGGGCAAAAAGCCGCGGCGGCGCGGGCAAAAAGCinsACGGGGGCAAAAAGC	ENSP00000469538.1:p.Arg158LeufsTer90	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112494-65112531	GCTTTTTGCCCGCGC	-	ENSR00000627361	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112494-65112531	GCTTTTTGCCCCCGT	-	ENSR00000627361	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112503-65112505	GTGCGCCGCCGCGGCTTTTTGCCCCCGCCGCCTAAGCTTTTTGCCT	ENSG00000232270	ENST00000430126	Transcript	upstream_gene_variant	-	-	-	-	-	-	272	1	INTS4L2	HGNC	22351	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112503-65112505	GTGCGCCGCCGCGGCTTTTTGCCCCCGCCGCCTAAGCTTTTTGCCT	ENSG00000232270	ENST00000433217	Transcript	upstream_gene_variant	-	-	-	-	-	-	289	1	INTS4L2	HGNC	-	transcribed_unprocessed_pseudogene	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112503-65112505	GTGCGCCGCCGCGGCTTTTTGCCCCCGCCGCCTAAGCTTTTTGCCT	ENSG00000269558	ENST00000593865	Transcript	frameshift_variant,feature_elongation	483-484	483-484	161-162	-	-	-	-	-1	AC104057.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000593865.1:c.483_484delGGinsAGGCAAAAAGCTTAGGCGGCGGGGGCAAAAAGCCGCGGCGGCGCAC	ENSP00000469538.1:p.Pro172AlafsTer98	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112503-65112505	GTGCGCCGCCGCGGCTTTTTGCCCCCGCCGCCTAAGCTTTTTGCCT	-	ENSR00000627361	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112504-65112505	TGCGCCGCCGCGGCTTTTTGCCCCCGCCGCCTAAGCTTTTTGCCT	ENSG00000232270	ENST00000430126	Transcript	upstream_gene_variant	-	-	-	-	-	rs149949566	272	1	INTS4L2	HGNC	22351	processed_transcript	-	-	-	-	-	-	T:0.61	T:0.51	T:0.36	T:0.43	-	-	-	-	-	-	-	-
.	7:65112504-65112505	TGCGCCGCCGCGGCTTTTTGCCCCCGCCGCCTAAGCTTTTTGCCT	ENSG00000232270	ENST00000433217	Transcript	upstream_gene_variant	-	-	-	-	-	rs149949566	289	1	INTS4L2	HGNC	-	transcribed_unprocessed_pseudogene	-	-	-	-	-	-	T:0.61	T:0.51	T:0.36	T:0.43	-	-	-	-	-	-	-	-
.	7:65112504-65112505	TGCGCCGCCGCGGCTTTTTGCCCCCGCCGCCTAAGCTTTTTGCCT	ENSG00000269558	ENST00000593865	Transcript	frameshift_variant,feature_elongation	483	483	161	-	-	rs149949566	-	-1	AC104057.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000593865.1:c.483delGinsAGGCAAAAAGCTTAGGCGGCGGGGGCAAAAAGCCGCGGCGGCGCA	ENSP00000469538.1:p.Pro172AlafsTer98	-	T:0.61	T:0.51	T:0.36	T:0.43	-	-	-	-	-	-	-	-
.	7:65112504-65112505	TGCGCCGCCGCGGCTTTTTGCCCCCGCCGCCTAAGCTTTTTGCCT	-	ENSR00000627361	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs149949566	-	-	-	-	-	-	-	-	-	-	-	-	T:0.61	T:0.51	T:0.36	T:0.43	-	-	-	-	-	-	-	-
.	7:65112504-65112505	TGCGCCGCCGCGGCTTTTTGCCCCCGTCGCCTAAGCTTTTTGCCT	ENSG00000232270	ENST00000430126	Transcript	upstream_gene_variant	-	-	-	-	-	rs149949566	272	1	INTS4L2	HGNC	22351	processed_transcript	-	-	-	-	-	-	T:0.61	T:0.51	T:0.36	T:0.43	-	-	-	-	-	-	-	-
.	7:65112504-65112505	TGCGCCGCCGCGGCTTTTTGCCCCCGTCGCCTAAGCTTTTTGCCT	ENSG00000232270	ENST00000433217	Transcript	upstream_gene_variant	-	-	-	-	-	rs149949566	289	1	INTS4L2	HGNC	-	transcribed_unprocessed_pseudogene	-	-	-	-	-	-	T:0.61	T:0.51	T:0.36	T:0.43	-	-	-	-	-	-	-	-
.	7:65112504-65112505	TGCGCCGCCGCGGCTTTTTGCCCCCGTCGCCTAAGCTTTTTGCCT	ENSG00000269558	ENST00000593865	Transcript	frameshift_variant,feature_elongation	483	483	161	-	-	rs149949566	-	-1	AC104057.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000593865.1:c.483delGinsAGGCAAAAAGCTTAGGCGACGGGGGCAAAAAGCCGCGGCGGCGCA	ENSP00000469538.1:p.Pro172AlafsTer98	-	T:0.61	T:0.51	T:0.36	T:0.43	-	-	-	-	-	-	-	-
.	7:65112504-65112505	TGCGCCGCCGCGGCTTTTTGCCCCCGTCGCCTAAGCTTTTTGCCT	-	ENSR00000627361	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs149949566	-	-	-	-	-	-	-	-	-	-	-	-	T:0.61	T:0.51	T:0.36	T:0.43	-	-	-	-	-	-	-	-
.	7:65112504-65112531	CGCGC	ENSG00000232270	ENST00000430126	Transcript	upstream_gene_variant	-	-	-	-	-	-	246	1	INTS4L2	HGNC	22351	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112504-65112531	TGCGCCGCCGCGGCTTTTTGCCCCCGTCGCCGCGGCTTTTTGCCCCCGT	ENSG00000232270	ENST00000430126	Transcript	upstream_gene_variant	-	-	-	-	-	-	246	1	INTS4L2	HGNC	22351	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112504-65112531	CGCGC	ENSG00000232270	ENST00000433217	Transcript	upstream_gene_variant	-	-	-	-	-	-	263	1	INTS4L2	HGNC	-	transcribed_unprocessed_pseudogene	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112504-65112531	TGCGCCGCCGCGGCTTTTTGCCCCCGTCGCCGCGGCTTTTTGCCCCCGT	ENSG00000232270	ENST00000433217	Transcript	upstream_gene_variant	-	-	-	-	-	-	263	1	INTS4L2	HGNC	-	transcribed_unprocessed_pseudogene	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112504-65112531	CGCGC	ENSG00000269558	ENST00000593865	Transcript	frameshift_variant,feature_truncation	457-483	457-483	153-161	-	-	-	-	-1	AC104057.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000593865.1:c.457_483delACGGGGGCAAAAAGCCGCGGCGGCGCGinsGCGCG	ENSP00000469538.1:p.Thr153AlafsTer95	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112504-65112531	TGCGCCGCCGCGGCTTTTTGCCCCCGTCGCCGCGGCTTTTTGCCCCCGT	ENSG00000269558	ENST00000593865	Transcript	frameshift_variant,feature_elongation	457-483	457-483	153-161	-	-	-	-	-1	AC104057.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000593865.1:c.457_483delACGGGGGCAAAAAGCCGCGGCGGCGCGinsACGGGGGCAAAAAGCCGCGGCGACGGGGGCAAAAAGCCGCGGCGGCGCA	ENSP00000469538.1:p.Gly160AspfsTer14	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112504-65112531	CGCGC	-	ENSR00000627361	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112504-65112531	TGCGCCGCCGCGGCTTTTTGCCCCCGTCGCCGCGGCTTTTTGCCCCCGT	-	ENSR00000627361	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112504	TGCGCCGCCGCGGCTTTTTGCCCCCGCCGCCTAAGCTTTTTGCC	ENSG00000232270	ENST00000430126	Transcript	upstream_gene_variant	-	-	-	-	-	-	272	1	INTS4L2	HGNC	22351	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112504	TGCGCCGCCGCGGCTTTTTGCCCCCGCCGCCTAAGCTTTTTGCC	ENSG00000232270	ENST00000433217	Transcript	upstream_gene_variant	-	-	-	-	-	-	289	1	INTS4L2	HGNC	-	transcribed_unprocessed_pseudogene	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112504	TGCGCCGCCGCGGCTTTTTGCCCCCGCCGCCTAAGCTTTTTGCC	ENSG00000269558	ENST00000593865	Transcript	frameshift_variant,feature_elongation	483-484	483-484	161-162	-	-	-	-	-1	AC104057.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000593865.1:c.483_484insGGCAAAAAGCTTAGGCGGCGGGGGCAAAAAGCCGCGGCGGCGCA	ENSP00000469538.1:p.Pro172AlafsTer98	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112504	TGCGCCGCCGCGGCTTTTTGCCCCCGCCGCCTAAGCTTTTTGCC	-	ENSR00000627361	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112504	G	ENSG00000232270	ENST00000430126	Transcript	upstream_gene_variant	-	-	-	-	-	-	273	1	INTS4L2	HGNC	22351	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112504	G	ENSG00000232270	ENST00000433217	Transcript	upstream_gene_variant	-	-	-	-	-	-	290	1	INTS4L2	HGNC	-	transcribed_unprocessed_pseudogene	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112504	G	ENSG00000269558	ENST00000593865	Transcript	missense_variant	484	484	162	G/R	Ggc/Cgc	-	-	-1	AC104057.1	Clone_based_ensembl_gene	-	protein_coding	deleterious(0.01)	unknown(0)	Low_complexity_(Seg):Seg	ENST00000593865.1:c.484G>C	ENSP00000469538.1:p.Gly162Arg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112504	G	-	ENSR00000627361	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112509-65112531	-	ENSG00000232270	ENST00000430126	Transcript	upstream_gene_variant	-	-	-	-	-	-	246	1	INTS4L2	HGNC	22351	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112509-65112531	CGCCGCGGCTTTTTGCCCCCGCCGCCTAAGCTTTTTGCCTGCGC	ENSG00000232270	ENST00000430126	Transcript	upstream_gene_variant	-	-	-	-	-	-	246	1	INTS4L2	HGNC	22351	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112509-65112531	-	ENSG00000232270	ENST00000433217	Transcript	upstream_gene_variant	-	-	-	-	-	-	263	1	INTS4L2	HGNC	-	transcribed_unprocessed_pseudogene	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112509-65112531	CGCCGCGGCTTTTTGCCCCCGCCGCCTAAGCTTTTTGCCTGCGC	ENSG00000232270	ENST00000433217	Transcript	upstream_gene_variant	-	-	-	-	-	-	263	1	INTS4L2	HGNC	-	transcribed_unprocessed_pseudogene	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112509-65112531	-	ENSG00000269558	ENST00000593865	Transcript	frameshift_variant,feature_truncation	457-478	457-478	153-160	-	-	-	-	-1	AC104057.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000593865.1:c.457_478delACGGGGGCAAAAAGCCGCGGCG	ENSP00000469538.1:p.Thr153AlafsTer95	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112509-65112531	CGCCGCGGCTTTTTGCCCCCGCCGCCTAAGCTTTTTGCCTGCGC	ENSG00000269558	ENST00000593865	Transcript	frameshift_variant,feature_elongation	457-478	457-478	153-160	-	-	-	-	-1	AC104057.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000593865.1:c.457_478delACGGGGGCAAAAAGCCGCGGCGinsGCGCAGGCAAAAAGCTTAGGCGGCGGGGGCAAAAAGCCGCGGCG	ENSP00000469538.1:p.Thr153AlafsTer21	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112509-65112531	-	-	ENSR00000627361	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112509-65112531	CGCCGCGGCTTTTTGCCCCCGCCGCCTAAGCTTTTTGCCTGCGC	-	ENSR00000627361	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112509-65112531	-	ENSG00000232270	ENST00000430126	Transcript	upstream_gene_variant	-	-	-	-	-	-	246	1	INTS4L2	HGNC	22351	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112509-65112531	-	ENSG00000232270	ENST00000433217	Transcript	upstream_gene_variant	-	-	-	-	-	-	263	1	INTS4L2	HGNC	-	transcribed_unprocessed_pseudogene	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112509-65112531	-	ENSG00000269558	ENST00000593865	Transcript	frameshift_variant,feature_truncation	457-478	457-478	153-160	-	-	-	-	-1	AC104057.1	Clone_based_ensembl_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000593865.1:c.457_478delACGGGGGCAAAAAGCCGCGGCG	ENSP00000469538.1:p.Thr153AlafsTer95	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:65112509-65112531	-	-	ENSR00000627361	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:76144556-76144560	GGCTGGGGGAGATGGGGCGCC	ENSG00000243566	ENST00000419923	Transcript	frameshift_variant,feature_elongation	1177-1180	952-955	318-319	-	-	-	-	1	UPK3B	HGNC	-	protein_coding	-	-	-	ENST00000419923.2:c.952_955delCGCTinsGGCTGGGGGAGATGGGGCGCC	ENSP00000441602.1:p.Arg318GlyfsTer84	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:76144556-76144560	GGCTGGGGGAGATGGGGCGCC	ENSG00000243566	ENST00000490360	Transcript	downstream_gene_variant	-	-	-	-	-	-	3358	1	UPK3B	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:76144556-76144560	GGCTGGGGGAGATGGGGCGCC	ENSG00000243566	ENST00000257632	Transcript	frameshift_variant,feature_elongation	1080-1083	952-955	318-319	-	-	-	-	1	UPK3B	HGNC	-	protein_coding	-	-	-	ENST00000257632.5:c.952_955delCGCTinsGGCTGGGGGAGATGGGGCGCC	ENSP00000257632.5:p.Arg318GlyfsTer?	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:76144556-76144560	GGCTGGGGGAGATGGGGCGCC	ENSG00000243566	ENST00000448265	Transcript	frameshift_variant,feature_elongation	1177-1180	952-955	318-319	-	-	-	-	1	UPK3B	HGNC	-	protein_coding	-	-	-	ENST00000448265.3:c.952_955delCGCTinsGGCTGGGGGAGATGGGGCGCC	ENSP00000441284.1:p.Arg318GlyfsTer84	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:76144556-76144560	GGCTGGGGGAGATGGGGCGCC	ENSG00000243566	ENST00000469114	Transcript	downstream_gene_variant	-	-	-	-	-	-	1192	1	UPK3B	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:76144556-76144560	GGCTGGGGGAGATGGGGCGCC	ENSG00000243566	ENST00000334348	Transcript	3_prime_UTR_variant,feature_elongation	1092-1095	-	-	-	-	-	-	1	UPK3B	HGNC	21444	protein_coding	-	-	-	ENST00000334348.3:c.*36_*39delCGCTinsGGCTGGGGGAGATGGGGCGCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:76144556-76144560	GGCTGGGGGAGATGGGGCGCC	ENSG00000243566	ENST00000394849	Transcript	frameshift_variant,feature_elongation	825-828	787-790	263-264	-	-	-	-	1	UPK3B	HGNC	-	protein_coding	-	-	-	ENST00000394849.1:c.787_790delCGCTinsGGCTGGGGGAGATGGGGCGCC	ENSP00000378319.1:p.Arg263GlyfsTer?	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:76144556-76144560	GGCTGGGGGAGATGGGGCGCC	ENSG00000243566	ENST00000443097	Transcript	3_prime_UTR_variant,feature_elongation	1092-1095	-	-	-	-	-	-	1	UPK3B	HGNC	-	protein_coding	-	-	-	ENST00000443097.2:c.*36_*39delCGCTinsGGCTGGGGGAGATGGGGCGCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:82784831-82784833	GTGCTGAGCTGGAGGCTTAGCAGGACCAAGAG	ENSG00000186472	ENST00000333891	Transcript	inframe_insertion	1462-1463	1124-1125	375	Q/PLGPAKPPAQH	cAG/cCTCTTGGTCCTGCTAAGCCTCCAGCTCAGCAC	-	-	-1	PCLO	HGNC	13406	protein_coding	-	-	Low_complexity_(Seg):Seg,Prints_domain:PR01217,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000333891.9:c.1124_1125delAGinsCTCTTGGTCCTGCTAAGCCTCCAGCTCAGCAC	ENSP00000334319.8:p.ProLeuGlyProAlaLysProProAlaGlnHis375dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:82784831-82784833	GTGCTGAGCTGGAGGCTTAGCAGGACCAAGAG	ENSG00000186472	ENST00000423517	Transcript	inframe_insertion	1462-1463	1124-1125	375	Q/PLGPAKPPAQH	cAG/cCTCTTGGTCCTGCTAAGCCTCCAGCTCAGCAC	-	-	-1	PCLO	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Prints_domain:PR01217,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000423517.2:c.1124_1125delAGinsCTCTTGGTCCTGCTAAGCCTCCAGCTCAGCAC	ENSP00000388393.2:p.ProLeuGlyProAlaLysProProAlaGlnHis375dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:100678416-100678434	CCCCAACTCCTGTTGACTA	ENSG00000169876	ENST00000306151	Transcript	missense_variant	3783-3801	3719-3737	1240-1246	STSPVDT/SPTPVDY	tCAACATCTCCCGTTGACACc/tCCCCAACTCCTGTTGACTAc	-	-	1	MUC17	HGNC	16800	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000306151.4:c.3719_3737delCAACATCTCCCGTTGACACinsCCCCAACTCCTGTTGACTA	ENSP00000302716.4:p.ThrSerProValAspThr1241ProThrProValAspTyr	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:100678416-100678434	CCCCAACTCCTGTTGACTA	ENSG00000169876	ENST00000379439	Transcript	missense_variant,NMD_transcript_variant	3783-3801	3719-3737	1240-1246	STSPVDT/SPTPVDY	tCAACATCTCCCGTTGACACc/tCCCCAACTCCTGTTGACTAc	-	-	1	MUC17	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000379439.3:c.3719_3737delCAACATCTCCCGTTGACACinsCCCCAACTCCTGTTGACTA	ENSP00000368751.3:p.ThrSerProValAspThr1241ProThrProValAspTyr	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:100678416-100678434	CCCAACTCCTTTGACTA	ENSG00000169876	ENST00000306151	Transcript	frameshift_variant,feature_truncation	3784-3801	3720-3737	1240-1246	-	-	-	-	1	MUC17	HGNC	16800	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000306151.4:c.3720_3737delAACATCTCCCGTTGACACinsCCCAACTCCTTTGACTA	ENSP00000302716.4:p.Thr1241ProfsTer10	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:100678416-100678434	CCCAACTCCTTTGACTA	ENSG00000169876	ENST00000379439	Transcript	frameshift_variant,NMD_transcript_variant,feature_truncation	3784-3801	3720-3737	1240-1246	-	-	-	-	1	MUC17	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50324,PROSITE_profiles:PS50325	ENST00000379439.3:c.3720_3737delAACATCTCCCGTTGACACinsCCCAACTCCTTTGACTA	ENSP00000368751.3:p.Thr1241ProfsTer10	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:140287552-140287560	AGAGTCTTCAA	ENSG00000146966	ENST00000475837	Transcript	5_prime_UTR_variant,feature_elongation	304-311	-	-	-	-	-	-	-1	DENND2A	HGNC	-	protein_coding	-	-	-	ENST00000475837.1:c.-116_-109delATTTACTGinsTTGAAGACTCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:140287552-140287560	AGAGTCTTCAA	ENSG00000146966	ENST00000496613	Transcript	inframe_insertion	1305-1312	1016-1023	339-341	DLL/VEDS	gATTTACTG/gTTGAAGACTCT	-	-	-1	DENND2A	HGNC	-	protein_coding	-	-	-	ENST00000496613.1:c.1016_1023delATTTACTGinsTTGAAGACTCT	ENSP00000419654.1:p.Asp339_Leu341delinsValGluAspSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:140287552-140287560	AGAGTCTTCAA	ENSG00000146966	ENST00000492720	Transcript	inframe_insertion	1263-1270	1016-1023	339-341	DLL/VEDS	gATTTACTG/gTTGAAGACTCT	-	-	-1	DENND2A	HGNC	-	protein_coding	-	-	-	ENST00000492720.1:c.1016_1023delATTTACTGinsTTGAAGACTCT	ENSP00000419464.1:p.Asp339_Leu341delinsValGluAspSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:140287552-140287560	AGAGTCTTCAA	ENSG00000146966	ENST00000461883	Transcript	inframe_insertion,NMD_transcript_variant	1131-1138	1016-1023	339-341	DLL/VEDS	gATTTACTG/gTTGAAGACTCT	-	-	-1	DENND2A	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000461883.1:c.1016_1023delATTTACTGinsTTGAAGACTCT	ENSP00000417673.1:p.Asp339_Leu341delinsValGluAspSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:140287552-140287560	AGAGTCTTCAA	ENSG00000146966	ENST00000537639	Transcript	inframe_insertion	1161-1168	1016-1023	339-341	DLL/VEDS	gATTTACTG/gTTGAAGACTCT	-	-	-1	DENND2A	HGNC	-	protein_coding	-	-	-	ENST00000537639.1:c.1016_1023delATTTACTGinsTTGAAGACTCT	ENSP00000442245.1:p.Asp339_Leu341delinsValGluAspSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:140287552-140287560	AGAGTCTTCAA	ENSG00000146966	ENST00000275884	Transcript	inframe_insertion	1434-1441	1016-1023	339-341	DLL/VEDS	gATTTACTG/gTTGAAGACTCT	-	-	-1	DENND2A	HGNC	22212	protein_coding	-	-	-	ENST00000275884.6:c.1016_1023delATTTACTGinsTTGAAGACTCT	ENSP00000275884.6:p.Asp339_Leu341delinsValGluAspSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:143955883-143955900	CG	ENSG00000244479	ENST00000478806	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	-1	OR2A1-AS1	HGNC	-	antisense	-	-	-	ENST00000478806.1:n.371-7197_371-7181delGCTGTTTCACAGCCTCTinsCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:143955883-143955900	CG	ENSG00000244479	ENST00000461843	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	-1	OR2A1-AS1	HGNC	-	antisense	-	-	-	ENST00000461843.1:n.113-7197_113-7181delGCTGTTTCACAGCCTCTinsCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:143955883-143955900	CG	ENSG00000213214	ENST00000543357	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ARHGEF35	HGNC	-	protein_coding	-	-	-	ENST00000543357.1:c.-13+35311_-13+35327delGCTGTTTCACAGCCTCTinsCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:143955883-143955900	CG	ENSG00000244479	ENST00000489488	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	-1	OR2A1-AS1	HGNC	-	antisense	-	-	-	ENST00000489488.1:n.264-6315_264-6299delGCTGTTTCACAGCCTCTinsCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:143955883-143955900	CG	ENSG00000244479	ENST00000463561	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	-1	OR2A1-AS1	HGNC	-	antisense	-	-	-	ENST00000463561.1:n.579-7197_579-7181delGCTGTTTCACAGCCTCTinsCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:143955883-143955900	CG	ENSG00000244479	ENST00000476560	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	-1	OR2A1-AS1	HGNC	49168	antisense	-	-	-	ENST00000476560.1:n.158-4111_158-4095delGCTGTTTCACAGCCTCTinsCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:143955883-143955900	CG	ENSG00000244198	ENST00000460955	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	RP4-545C24.1	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000460955.1:n.494-21681_494-21665delAGAGGCTGTGAAACAGCinsCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:143955883-143955900	CG	ENSG00000243896	ENST00000493325	Transcript	feature_truncation	916-932	822-838	274-280	LLFHSLF/LV	ctGCTGTTTCACAGCCTCTtt/ctCGtt	-	-	-1	OR2A7	HGNC	8234	protein_coding	-	-	Pfam_domain:PF00001,Transmembrane_helices:Tmhmm,Prints_domain:PR00237,Prints_domain:PR00534,PROSITE_profiles:PS50262,Superfamily_domains:SSF81321	ENST00000493325.1:c.822_838delGCTGTTTCACAGCCTCTinsCG	ENSP00000420502.1:p.Leu275_Phe280delinsVal	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:143955883-143955900	CG	ENSG00000244479	ENST00000498397	Transcript	upstream_gene_variant	-	-	-	-	-	-	2547	-1	OR2A1-AS1	HGNC	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:143955883-143955900	CG	ENSG00000244479	ENST00000487102	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	-1	OR2A1-AS1	HGNC	-	antisense	-	-	-	ENST00000487102.1:n.161-4111_161-4095delGCTGTTTCACAGCCTCTinsCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150069392-150069407	TCG	ENSG00000214022	ENST00000488943	Transcript	downstream_gene_variant	-	-	-	-	-	-	62	1	REPIN1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150069392-150069407	TCG	ENSG00000214022	ENST00000489432	Transcript	feature_truncation	1417-1431	1234-1248	412-416	PPPGA/S	CCGCCGCCAGGGGCC/TCG	-	-	1	REPIN1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000489432.2:c.1234_1248delCCGCCGCCAGGGGCCinsTCG	ENSP00000417291.2:p.Pro412_Ala416delinsSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150069392-150069407	TCG	ENSG00000214022	ENST00000487455	Transcript	downstream_gene_variant	-	-	-	-	-	-	2260	1	REPIN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150069392-150069407	TCG	ENSG00000214022	ENST00000425389	Transcript	feature_truncation	1141-1155	1063-1077	355-359	PPPGA/S	CCGCCGCCAGGGGCC/TCG	-	-	1	REPIN1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000425389.2:c.1063_1077delCCGCCGCCAGGGGCCinsTCG	ENSP00000388287.2:p.Pro355_Ala359delinsSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150069392-150069407	TCG	ENSG00000214022	ENST00000482680	Transcript	downstream_gene_variant	-	-	-	-	-	-	501	1	REPIN1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150069392-150069407	TCG	ENSG00000214022	ENST00000469309	Transcript	downstream_gene_variant	-	-	-	-	-	-	1893	1	REPIN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150069392-150069407	TCG	ENSG00000214022	ENST00000486714	Transcript	downstream_gene_variant	-	-	-	-	-	-	649	1	REPIN1	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150069392-150069407	TCG	ENSG00000214022	ENST00000522266	Transcript	downstream_gene_variant	-	-	-	-	-	-	912	1	REPIN1	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150069392-150069407	TCG	ENSG00000214022	ENST00000518462	Transcript	downstream_gene_variant	-	-	-	-	-	-	747	1	REPIN1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150069392-150069407	TCG	ENSG00000196456	ENST00000478789	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	ZNF775	HGNC	28501	protein_coding	-	-	-	ENST00000478789.1:c.-50+3363_-50+3377delCCGCCGCCAGGGGCCinsTCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150069392-150069407	TCG	ENSG00000214022	ENST00000495535	Transcript	downstream_gene_variant	-	-	-	-	-	-	2170	1	REPIN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150069392-150069407	TCG	ENSG00000214022	ENST00000397281	Transcript	feature_truncation	1552-1566	1063-1077	355-359	PPPGA/S	CCGCCGCCAGGGGCC/TCG	-	-	1	REPIN1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000397281.2:c.1063_1077delCCGCCGCCAGGGGCCinsTCG	ENSP00000380451.2:p.Pro355_Ala359delinsSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150069392-150069407	TCG	ENSG00000214022	ENST00000540729	Transcript	feature_truncation	1439-1453	1063-1077	355-359	PPPGA/S	CCGCCGCCAGGGGCC/TCG	-	-	1	REPIN1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000540729.1:c.1063_1077delCCGCCGCCAGGGGCCinsTCG	ENSP00000445016.1:p.Pro355_Ala359delinsSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150069392-150069407	TCG	ENSG00000214022	ENST00000466559	Transcript	downstream_gene_variant	-	-	-	-	-	-	205	1	REPIN1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150069392-150069407	TCG	ENSG00000240449	ENST00000488310	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	-1	RP4-584D14.5	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000488310.1:n.98+175_98+189delGGCCCCTGGCGGCGGinsCGA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150069392-150069407	TCG	ENSG00000214022	ENST00000467980	Transcript	downstream_gene_variant	-	-	-	-	-	-	672	1	REPIN1	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150069392-150069407	TCG	ENSG00000214022	ENST00000473391	Transcript	downstream_gene_variant	-	-	-	-	-	-	1702	1	REPIN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150069392-150069407	TCG	ENSG00000214022	ENST00000444957	Transcript	feature_truncation	1229-1243	1063-1077	355-359	PPPGA/S	CCGCCGCCAGGGGCC/TCG	-	-	1	REPIN1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000444957.1:c.1063_1077delCCGCCGCCAGGGGCCinsTCG	ENSP00000407714.1:p.Pro355_Ala359delinsSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150069392-150069407	TCG	ENSG00000214022	ENST00000475514	Transcript	downstream_gene_variant	-	-	-	-	-	-	142	1	REPIN1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150069392-150069407	TCG	ENSG00000214022	ENST00000519397	Transcript	downstream_gene_variant	-	-	-	-	-	-	624	1	REPIN1	HGNC	17922	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150069392-150069407	TCG	ENSG00000214022	ENST00000518514	Transcript	downstream_gene_variant	-	-	-	-	-	-	762	1	REPIN1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150069392-150069407	TCG	ENSG00000214022	ENST00000479668	Transcript	3_prime_UTR_variant,feature_truncation	1447-1461	-	-	-	-	-	-	1	REPIN1	HGNC	-	protein_coding	-	-	-	ENST00000479668.1:c.*948_*962delCCGCCGCCAGGGGCCinsTCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783899-150783922	TGGCGGCGGCGGCGGCAGCGCGGGGG	ENSG00000133612	ENST00000463381	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AGAP3	HGNC	-	protein_coding	-	-	-	ENST00000463381.1:c.-354+804_-354+826delCGCTGCCGCGCAGCAGCTCGTCTinsTGGCGGCGGCGGCGGCAGCGCGGGGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783899-150783922	TGGCGGCGGCGGCGGCAGCGCGGGGG	ENSG00000133612	ENST00000490097	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	AGAP3	HGNC	16923	processed_transcript	-	-	-	ENST00000490097.1:n.230+753_230+775delCGCTGCCGCGCAGCAGCTCGTCTinsTGGCGGCGGCGGCGGCAGCGCGGGGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783899-150783922	TGGCGGCGGCGGCGGCAGCGCGGGGG	ENSG00000164897	ENST00000488752	Transcript	upstream_gene_variant	-	-	-	-	-	-	3689	-1	TMUB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783899-150783922	TGGCGGCGGCGGCGGCAGCGCGGGGG	ENSG00000164897	ENST00000392818	Transcript	upstream_gene_variant	-	-	-	-	-	-	3722	-1	TMUB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783899-150783922	TGGCGGCGGCGGCGGCAGCGCGGGGG	ENSG00000133612	ENST00000469901	Transcript	upstream_gene_variant	-	-	-	-	-	-	232	1	AGAP3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783899-150783922	TGGCGGCGGCGGCGGCAGCGCGGGGG	ENSG00000133612	ENST00000473312	Transcript	inframe_insertion	72-94	72-94	24-32	GAAAQQLVC/GGGGGGSAGG	ggCGCTGCCGCGCAGCAGCTCGTCTgc/ggTGGCGGCGGCGGCGGCAGCGCGGGGGgc	-	-	1	AGAP3	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315	ENST00000473312.1:c.72_94delCGCTGCCGCGCAGCAGCTCGTCTinsTGGCGGCGGCGGCGGCAGCGCGGGGG	ENSP00000418921.1:p.Ala25_Cys32delinsGlyGlyGlyGlyGlySerAlaGlyGly	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783899-150783922	TGGCGGCGGCGGCGGCAGCGCGGGGG	ENSG00000133612	ENST00000397238	Transcript	inframe_insertion	72-94	72-94	24-32	GAAAQQLVC/GGGGGGSAGG	ggCGCTGCCGCGCAGCAGCTCGTCTgc/ggTGGCGGCGGCGGCGGCAGCGCGGGGGgc	-	-	1	AGAP3	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315	ENST00000397238.2:c.72_94delCGCTGCCGCGCAGCAGCTCGTCTinsTGGCGGCGGCGGCGGCAGCGCGGGGG	ENSP00000380413.2:p.Ala25_Cys32delinsGlyGlyGlyGlyGlySerAlaGlyGly	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783899-150783922	TGGCGGCGGCGGCGGCAGCGCGGGGG	ENSG00000164897	ENST00000462940	Transcript	upstream_gene_variant	-	-	-	-	-	-	3905	-1	TMUB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783899-150783922	TGGCGGCGGCGGCGGCAGCGCGGGGG	ENSG00000133612	ENST00000479901	Transcript	inframe_insertion	72-94	72-94	24-32	GAAAQQLVC/GGGGGGSAGG	ggCGCTGCCGCGCAGCAGCTCGTCTgc/ggTGGCGGCGGCGGCGGCAGCGCGGGGGgc	-	-	1	AGAP3	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315	ENST00000479901.1:c.72_94delCGCTGCCGCGCAGCAGCTCGTCTinsTGGCGGCGGCGGCGGCAGCGCGGGGG	ENSP00000418125.1:p.Ala25_Cys32delinsGlyGlyGlyGlyGlySerAlaGlyGly	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783899-150783922	TGGCGGCGGCGGCGGCAGCGCGGGGG	ENSG00000164897	ENST00000297533	Transcript	upstream_gene_variant	-	-	-	-	-	-	3267	-1	TMUB1	HGNC	21709	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783899-150783922	TGGCGGCGGCGGCGGCAGCGCGGGGG	ENSG00000133612	ENST00000476375	Transcript	upstream_gene_variant	-	-	-	-	-	-	2877	1	AGAP3	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783899-150783922	TGGCGGCGGCGGCGGCAGCGCGGGGG	ENSG00000164897	ENST00000482202	Transcript	upstream_gene_variant	-	-	-	-	-	-	3413	-1	TMUB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783899-150783922	TGGCGGCGGCGGCGGCAGCGCGGGGG	ENSG00000164897	ENST00000476627	Transcript	upstream_gene_variant	-	-	-	-	-	-	3581	-1	TMUB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783899-150783922	TGGCGGCGGCGGCGGCAGCGCGGGGG	ENSG00000164897	ENST00000492838	Transcript	upstream_gene_variant	-	-	-	-	-	-	3832	-1	TMUB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783899-150783922	TGGCGGCGGCGGCGGCAGCGCGGGGG	-	ENSR00000636248	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783901-150783922	GCAGCGCGGGGG	ENSG00000133612	ENST00000463381	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	AGAP3	HGNC	-	protein_coding	-	-	-	ENST00000463381.1:c.-354+806_-354+826delCTGCCGCGCAGCAGCTCGTCTinsGCAGCGCGGGGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783901-150783922	GCAGCGCGGGGG	ENSG00000133612	ENST00000490097	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	AGAP3	HGNC	16923	processed_transcript	-	-	-	ENST00000490097.1:n.230+755_230+775delCTGCCGCGCAGCAGCTCGTCTinsGCAGCGCGGGGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783901-150783922	GCAGCGCGGGGG	ENSG00000164897	ENST00000488752	Transcript	upstream_gene_variant	-	-	-	-	-	-	3691	-1	TMUB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783901-150783922	GCAGCGCGGGGG	ENSG00000164897	ENST00000392818	Transcript	upstream_gene_variant	-	-	-	-	-	-	3724	-1	TMUB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783901-150783922	GCAGCGCGGGGG	ENSG00000133612	ENST00000469901	Transcript	upstream_gene_variant	-	-	-	-	-	-	232	1	AGAP3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783901-150783922	GCAGCGCGGGGG	ENSG00000133612	ENST00000473312	Transcript	feature_truncation	74-94	74-94	25-32	AAAQQLVC/GSAGG	gCTGCCGCGCAGCAGCTCGTCTgc/gGCAGCGCGGGGGgc	-	-	1	AGAP3	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315	ENST00000473312.1:c.74_94delCTGCCGCGCAGCAGCTCGTCTinsGCAGCGCGGGGG	ENSP00000418921.1:p.Ala25_Cys32delinsGlySerAlaGlyGly	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783901-150783922	GCAGCGCGGGGG	ENSG00000133612	ENST00000397238	Transcript	feature_truncation	74-94	74-94	25-32	AAAQQLVC/GSAGG	gCTGCCGCGCAGCAGCTCGTCTgc/gGCAGCGCGGGGGgc	-	-	1	AGAP3	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315	ENST00000397238.2:c.74_94delCTGCCGCGCAGCAGCTCGTCTinsGCAGCGCGGGGG	ENSP00000380413.2:p.Ala25_Cys32delinsGlySerAlaGlyGly	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783901-150783922	GCAGCGCGGGGG	ENSG00000164897	ENST00000462940	Transcript	upstream_gene_variant	-	-	-	-	-	-	3907	-1	TMUB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783901-150783922	GCAGCGCGGGGG	ENSG00000133612	ENST00000479901	Transcript	feature_truncation	74-94	74-94	25-32	AAAQQLVC/GSAGG	gCTGCCGCGCAGCAGCTCGTCTgc/gGCAGCGCGGGGGgc	-	-	1	AGAP3	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315	ENST00000479901.1:c.74_94delCTGCCGCGCAGCAGCTCGTCTinsGCAGCGCGGGGG	ENSP00000418125.1:p.Ala25_Cys32delinsGlySerAlaGlyGly	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783901-150783922	GCAGCGCGGGGG	ENSG00000164897	ENST00000297533	Transcript	upstream_gene_variant	-	-	-	-	-	-	3269	-1	TMUB1	HGNC	21709	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783901-150783922	GCAGCGCGGGGG	ENSG00000133612	ENST00000476375	Transcript	upstream_gene_variant	-	-	-	-	-	-	2877	1	AGAP3	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783901-150783922	GCAGCGCGGGGG	ENSG00000164897	ENST00000482202	Transcript	upstream_gene_variant	-	-	-	-	-	-	3415	-1	TMUB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783901-150783922	GCAGCGCGGGGG	ENSG00000164897	ENST00000476627	Transcript	upstream_gene_variant	-	-	-	-	-	-	3583	-1	TMUB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783901-150783922	GCAGCGCGGGGG	ENSG00000164897	ENST00000492838	Transcript	upstream_gene_variant	-	-	-	-	-	-	3834	-1	TMUB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783901-150783922	GCAGCGCGGGGG	-	ENSR00000636248	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783901-150783922	GCGGCGGCGGCGGCAGCGCGGGGG	ENSG00000133612	ENST00000463381	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	AGAP3	HGNC	-	protein_coding	-	-	-	ENST00000463381.1:c.-354+806_-354+826delCTGCCGCGCAGCAGCTCGTCTinsGCGGCGGCGGCGGCAGCGCGGGGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783901-150783922	GCGGCGGCGGCGGCAGCGCGGGGG	ENSG00000133612	ENST00000490097	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	AGAP3	HGNC	16923	processed_transcript	-	-	-	ENST00000490097.1:n.230+755_230+775delCTGCCGCGCAGCAGCTCGTCTinsGCGGCGGCGGCGGCAGCGCGGGGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783901-150783922	GCGGCGGCGGCGGCAGCGCGGGGG	ENSG00000164897	ENST00000488752	Transcript	upstream_gene_variant	-	-	-	-	-	-	3691	-1	TMUB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783901-150783922	GCGGCGGCGGCGGCAGCGCGGGGG	ENSG00000164897	ENST00000392818	Transcript	upstream_gene_variant	-	-	-	-	-	-	3724	-1	TMUB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783901-150783922	GCGGCGGCGGCGGCAGCGCGGGGG	ENSG00000133612	ENST00000469901	Transcript	upstream_gene_variant	-	-	-	-	-	-	232	1	AGAP3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783901-150783922	GCGGCGGCGGCGGCAGCGCGGGGG	ENSG00000133612	ENST00000473312	Transcript	inframe_insertion	74-94	74-94	25-32	AAAQQLVC/GGGGGSAGG	gCTGCCGCGCAGCAGCTCGTCTgc/gGCGGCGGCGGCGGCAGCGCGGGGGgc	-	-	1	AGAP3	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315	ENST00000473312.1:c.74_94delCTGCCGCGCAGCAGCTCGTCTinsGCGGCGGCGGCGGCAGCGCGGGGG	ENSP00000418921.1:p.Ala25_Cys32delinsGlyGlyGlyGlyGlySerAlaGlyGly	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783901-150783922	GCGGCGGCGGCGGCAGCGCGGGGG	ENSG00000133612	ENST00000397238	Transcript	inframe_insertion	74-94	74-94	25-32	AAAQQLVC/GGGGGSAGG	gCTGCCGCGCAGCAGCTCGTCTgc/gGCGGCGGCGGCGGCAGCGCGGGGGgc	-	-	1	AGAP3	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315	ENST00000397238.2:c.74_94delCTGCCGCGCAGCAGCTCGTCTinsGCGGCGGCGGCGGCAGCGCGGGGG	ENSP00000380413.2:p.Ala25_Cys32delinsGlyGlyGlyGlyGlySerAlaGlyGly	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783901-150783922	GCGGCGGCGGCGGCAGCGCGGGGG	ENSG00000164897	ENST00000462940	Transcript	upstream_gene_variant	-	-	-	-	-	-	3907	-1	TMUB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783901-150783922	GCGGCGGCGGCGGCAGCGCGGGGG	ENSG00000133612	ENST00000479901	Transcript	inframe_insertion	74-94	74-94	25-32	AAAQQLVC/GGGGGSAGG	gCTGCCGCGCAGCAGCTCGTCTgc/gGCGGCGGCGGCGGCAGCGCGGGGGgc	-	-	1	AGAP3	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315	ENST00000479901.1:c.74_94delCTGCCGCGCAGCAGCTCGTCTinsGCGGCGGCGGCGGCAGCGCGGGGG	ENSP00000418125.1:p.Ala25_Cys32delinsGlyGlyGlyGlyGlySerAlaGlyGly	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783901-150783922	GCGGCGGCGGCGGCAGCGCGGGGG	ENSG00000164897	ENST00000297533	Transcript	upstream_gene_variant	-	-	-	-	-	-	3269	-1	TMUB1	HGNC	21709	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783901-150783922	GCGGCGGCGGCGGCAGCGCGGGGG	ENSG00000133612	ENST00000476375	Transcript	upstream_gene_variant	-	-	-	-	-	-	2877	1	AGAP3	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783901-150783922	GCGGCGGCGGCGGCAGCGCGGGGG	ENSG00000164897	ENST00000482202	Transcript	upstream_gene_variant	-	-	-	-	-	-	3415	-1	TMUB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783901-150783922	GCGGCGGCGGCGGCAGCGCGGGGG	ENSG00000164897	ENST00000476627	Transcript	upstream_gene_variant	-	-	-	-	-	-	3583	-1	TMUB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783901-150783922	GCGGCGGCGGCGGCAGCGCGGGGG	ENSG00000164897	ENST00000492838	Transcript	upstream_gene_variant	-	-	-	-	-	-	3834	-1	TMUB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	7:150783901-150783922	GCGGCGGCGGCGGCAGCGCGGGGG	-	ENSR00000636248	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:10467578-10467581	-	ENSG00000183638	ENST00000382483	Transcript	inframe_deletion	4251-4253	4027-4029	1343	E/-	GAA/-	COSM1488859,rs143686100	-	-1	RP1L1	HGNC	15946	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50313	ENST00000382483.3:c.4027_4029delGAA	ENSP00000371923.3:p.Glu1343del	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	8:10467580-10467589	TAGTCC	ENSG00000183638	ENST00000382483	Transcript	feature_truncation	4243-4251	4019-4027	1340-1343	ETKE/GTK	gAAACTAAAGaa/gGGACTAaa	-	-	-1	RP1L1	HGNC	15946	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50313	ENST00000382483.3:c.4019_4027delAAACTAAAGinsGGACTA	ENSP00000371923.3:p.Glu1340_Glu1343delinsGlyThrLys	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:10467651	CTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACC	ENSG00000183638	ENST00000382483	Transcript	inframe_insertion	4180-4181	3956-3957	1319	A/AVQLEGTKVIEGLQEER	gcg/gcGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGg	-	-	-1	RP1L1	HGNC	15946	protein_coding	-	-	PROSITE_profiles:PS50313	ENST00000382483.3:c.3956_3957insGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAG	ENSP00000371923.3:p.Ala1319_Val1320insValGlnLeuGluGlyThrLysValIleGluGlyLeuGlnGluGluArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:10467651-10467652	CTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACCC	ENSG00000183638	ENST00000382483	Transcript	inframe_insertion	4180	3956	1319	A/GVQLEGTKVIEGLQEER	gCg/gGGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGg	-	-	-1	RP1L1	HGNC	15946	protein_coding	-	-	PROSITE_profiles:PS50313	ENST00000382483.3:c.3956delCinsGGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAG	ENSP00000371923.3:p.Ala1319delinsGlyValGlnLeuGluGlyThrLysValIleGluGlyLeuGlnGluGluArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:10467651-10467652	CTCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCC	ENSG00000183638	ENST00000382483	Transcript	inframe_insertion	4180	3956	1319	A/GVQLEETKTEEGLQEER	gCg/gGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGAGg	-	-	-1	RP1L1	HGNC	15946	protein_coding	-	-	PROSITE_profiles:PS50313	ENST00000382483.3:c.3956delCinsGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGAG	ENSP00000371923.3:p.Ala1319delinsGlyValGlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:23282558	G	ENSG00000197217	ENST00000518471	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ENTPD4	HGNC	14573	protein_coding	-	-	-	ENST00000518471.1:c.407+9271_407+9272insC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:23282558	G	ENSG00000134013	ENST00000524144	Transcript	splice_region_variant,intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	LOXL2	HGNC	-	protein_coding	-	-	-	ENST00000524144.1:c.40+5_40+6insC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:23282558	G	ENSG00000134013	ENST00000520871	Transcript	splice_region_variant,intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	LOXL2	HGNC	-	protein_coding	-	-	-	ENST00000520871.1:c.40+5_40+6insC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:23282558	G	ENSG00000197217	ENST00000356206	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ENTPD4	HGNC	-	protein_coding	-	-	-	ENST00000356206.6:c.1598+9271_1598+9272insC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:23282558	G	ENSG00000197217	ENST00000358689	Transcript	downstream_gene_variant	-	-	-	-	-	-	4106	-1	ENTPD4	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:23282558	G	ENSG00000197217	ENST00000521321	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	ENTPD4	HGNC	-	processed_transcript	-	-	-	ENST00000521321.1:n.292+9271_292+9272insC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:23282558	G	ENSG00000134013	ENST00000524075	Transcript	splice_region_variant,intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	LOXL2	HGNC	-	retained_intron	-	-	-	ENST00000524075.1:n.251+5_251+6insC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:23282558-23282562	TACAGTATTCCATGGCAGTATT	ENSG00000197217	ENST00000518471	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ENTPD4	HGNC	14573	protein_coding	-	-	-	ENST00000518471.1:c.407+9268_407+9271delTGCGinsAATACTGCCATGGAATACTGTA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:23282558-23282562	TACAGTATTCCATGGCAGTATT	ENSG00000134013	ENST00000524144	Transcript	splice_donor_variant,intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	LOXL2	HGNC	-	protein_coding	-	-	-	ENST00000524144.1:c.40+2_40+5delTGCGinsAATACTGCCATGGAATACTGTA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:23282558-23282562	TACAGTATTCCATGGCAGTATT	ENSG00000134013	ENST00000520871	Transcript	splice_donor_variant,intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	LOXL2	HGNC	-	protein_coding	-	-	-	ENST00000520871.1:c.40+2_40+5delTGCGinsAATACTGCCATGGAATACTGTA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:23282558-23282562	TACAGTATTCCATGGCAGTATT	ENSG00000197217	ENST00000356206	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ENTPD4	HGNC	-	protein_coding	-	-	-	ENST00000356206.6:c.1598+9268_1598+9271delTGCGinsAATACTGCCATGGAATACTGTA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:23282558-23282562	TACAGTATTCCATGGCAGTATT	ENSG00000197217	ENST00000358689	Transcript	downstream_gene_variant	-	-	-	-	-	-	4103	-1	ENTPD4	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:23282558-23282562	TACAGTATTCCATGGCAGTATT	ENSG00000197217	ENST00000521321	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	ENTPD4	HGNC	-	processed_transcript	-	-	-	ENST00000521321.1:n.292+9268_292+9271delTGCGinsAATACTGCCATGGAATACTGTA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:23282558-23282562	TACAGTATTCCATGGCAGTATT	ENSG00000134013	ENST00000524075	Transcript	splice_donor_variant,intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	LOXL2	HGNC	-	retained_intron	-	-	-	ENST00000524075.1:n.251+2_251+5delTGCGinsAATACTGCCATGGAATACTGTA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:62580816-62580820	GTCCTTCTGGGA	ENSG00000198363	ENST00000523927	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	ASPH	HGNC	-	processed_transcript	-	-	-	ENST00000523927.1:n.32+12707_32+12710delGTAGinsTCCCAGAAGGAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:62580816-62580820	GTCCTTCTGGGA	ENSG00000198363	ENST00000522349	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ASPH	HGNC	-	protein_coding	-	-	-	ENST00000522349.1:c.235+12707_235+12710delGTAGinsTCCCAGAAGGAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:62580816-62580820	GTCCTTCTGGGA	ENSG00000198363	ENST00000517856	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ASPH	HGNC	-	protein_coding	-	-	-	ENST00000517856.1:c.323-6335_323-6332delGTAGinsTCCCAGAAGGAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:62580816-62580820	GTCCTTCTGGGA	ENSG00000198363	ENST00000379454	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ASPH	HGNC	-	protein_coding	-	-	-	ENST00000379454.4:c.322+12707_322+12710delGTAGinsTCCCAGAAGGAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:62580816-62580820	GTCCTTCTGGGA	ENSG00000198363	ENST00000522603	Transcript	frameshift_variant,feature_elongation	348-351	250-253	84-85	-	-	-	-	-1	ASPH	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Pfam_domain:PF05279	ENST00000522603.1:c.250_253delGTAGinsTCCCAGAAGGAC	ENSP00000436188.1:p.Val84SerfsTer77	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:62580816-62580820	GTCCTTCTGGGA	ENSG00000198363	ENST00000517903	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ASPH	HGNC	-	protein_coding	-	-	-	ENST00000517903.1:c.280+12707_280+12710delGTAGinsTCCCAGAAGGAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:62580816-62580820	GTCCTTCTGGGA	ENSG00000198363	ENST00000519234	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ASPH	HGNC	-	protein_coding	-	-	-	ENST00000519234.1:c.367+12707_367+12710delGTAGinsTCCCAGAAGGAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:62580816-62580820	GTCCTTCTGGGA	ENSG00000198363	ENST00000541428	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ASPH	HGNC	757	protein_coding	-	-	-	ENST00000541428.1:c.235+12707_235+12710delGTAGinsTCCCAGAAGGAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:62580816-62580820	GTCCTTCTGGGA	ENSG00000198363	ENST00000518068	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ASPH	HGNC	-	protein_coding	-	-	-	ENST00000518068.1:c.322+12707_322+12710delGTAGinsTCCCAGAAGGAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:62580816-62580820	GTCCTTCTGGGA	ENSG00000198363	ENST00000518306	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ASPH	HGNC	-	protein_coding	-	-	-	ENST00000518306.1:c.235+12707_235+12710delGTAGinsTCCCAGAAGGAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:62580816-62580820	GTCCTTCTGGGA	ENSG00000198363	ENST00000356457	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ASPH	HGNC	-	protein_coding	-	-	-	ENST00000356457.5:c.322+12707_322+12710delGTAGinsTCCCAGAAGGAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:62580816-62580820	GTCCTTCTGGGA	ENSG00000198363	ENST00000389204	Transcript	frameshift_variant,feature_elongation	381-384	295-298	99-100	-	-	-	-	-1	ASPH	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Pfam_domain:PF05279	ENST00000389204.4:c.295_298delGTAGinsTCCCAGAAGGAC	ENSP00000373856.4:p.Val99SerfsTer77	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:62580816-62580820	GTCCTTCTGGGA	ENSG00000198363	ENST00000517928	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	ASPH	HGNC	-	processed_transcript	-	-	-	ENST00000517928.1:n.436-6335_436-6332delGTAGinsTCCCAGAAGGAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:62580816-62580820	GTCCTTCTGGGA	ENSG00000198363	ENST00000522835	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ASPH	HGNC	-	protein_coding	-	-	-	ENST00000522835.1:c.280+12707_280+12710delGTAGinsTCCCAGAAGGAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:62580816-62580820	GTCCTTCTGGGA	ENSG00000198363	ENST00000445642	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ASPH	HGNC	-	protein_coding	-	-	-	ENST00000445642.3:c.280+12707_280+12710delGTAGinsTCCCAGAAGGAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:62580816-62580820	GTCCTTCTGGGA	ENSG00000198363	ENST00000517847	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ASPH	HGNC	-	protein_coding	-	-	-	ENST00000517847.2:c.280+12707_280+12710delGTAGinsTCCCAGAAGGAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:86126497-86126500	CCAAACAGACGTT	ENSG00000133740	ENST00000517476	Transcript	downstream_gene_variant	-	-	-	-	-	-	226	1	E2F5	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:86126497-86126500	CCAAACAGACGTT	ENSG00000176731	ENST00000524353	Transcript	downstream_gene_variant	-	-	-	-	-	-	237	-1	C8orf59	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:86126497-86126500	CCAAACAGACGTT	ENSG00000133740	ENST00000256117	Transcript	3_prime_UTR_variant,feature_elongation	1482-1484	-	-	-	-	-	-	1	E2F5	HGNC	-	protein_coding	-	-	-	ENST00000256117.5:c.*401_*403delGTCinsCCAAACAGACGTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:86126497-86126500	CCAAACAGACGTT	ENSG00000176731	ENST00000417663	Transcript	3_prime_UTR_variant,feature_elongation	664-666	-	-	-	-	-	-	-1	C8orf59	HGNC	32235	protein_coding	-	-	-	ENST00000417663.2:c.*295_*297delGACinsAACGTCTGTTTGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:86126497-86126500	CCAAACAGACGTT	ENSG00000176731	ENST00000321777	Transcript	downstream_gene_variant	-	-	-	-	-	-	2889	-1	C8orf59	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:86126497-86126500	CCAAACAGACGTT	ENSG00000176731	ENST00000520236	Transcript	downstream_gene_variant	-	-	-	-	-	-	237	-1	C8orf59	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:86126497-86126500	CCAAACAGACGTT	ENSG00000176731	ENST00000421308	Transcript	downstream_gene_variant	-	-	-	-	-	-	222	-1	C8orf59	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:86126497-86126500	CCAAACAGACGTT	ENSG00000176731	ENST00000518091	Transcript	downstream_gene_variant	-	-	-	-	-	-	238	-1	C8orf59	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:86126497-86126500	CCAAACAGACGTT	ENSG00000176731	ENST00000521286	Transcript	downstream_gene_variant	-	-	-	-	-	-	4400	-1	C8orf59	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:86126497-86126500	CCAAACAGACGTT	ENSG00000176731	ENST00000523245	Transcript	downstream_gene_variant	-	-	-	-	-	-	2542	-1	C8orf59	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:86126497-86126500	CCAAACAGACGTT	ENSG00000176731	ENST00000523281	Transcript	downstream_gene_variant	-	-	-	-	-	-	744	-1	C8orf59	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:86126497-86126500	CCAAACAGACGTT	ENSG00000176731	ENST00000545322	Transcript	downstream_gene_variant	-	-	-	-	-	-	3004	-1	C8orf59	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:86126497-86126500	CCAAACAGACGTT	ENSG00000176731	ENST00000518562	Transcript	downstream_gene_variant	-	-	-	-	-	-	237	-1	C8orf59	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:86126497-86126500	CCAAACAGACGTT	ENSG00000176731	ENST00000518786	Transcript	downstream_gene_variant	-	-	-	-	-	-	4355	-1	C8orf59	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:86126497-86126500	CCAAACAGACGTT	ENSG00000133740	ENST00000416274	Transcript	3_prime_UTR_variant,feature_elongation	1476-1478	-	-	-	-	-	-	1	E2F5	HGNC	-	protein_coding	-	-	-	ENST00000416274.2:c.*401_*403delGTCinsCCAAACAGACGTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:86126497-86126500	CCAAACAGACGTT	ENSG00000133740	ENST00000518234	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	E2F5	HGNC	-	protein_coding	-	-	-	ENST00000518234.1:c.*40+361_*40+363delGTCinsCCAAACAGACGTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:86126497-86126500	CCAAACAGACGTT	ENSG00000133740	ENST00000418930	Transcript	3_prime_UTR_variant,feature_elongation	1635-1637	-	-	-	-	-	-	1	E2F5	HGNC	3119	protein_coding	-	-	-	ENST00000418930.2:c.*401_*403delGTCinsCCAAACAGACGTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:86126497-86126500	CCAAACAGACGTT	ENSG00000133740	ENST00000521429	Transcript	3_prime_UTR_variant,feature_elongation	1324-1326	-	-	-	-	-	-	1	E2F5	HGNC	-	protein_coding	-	-	-	ENST00000521429.1:c.*401_*403delGTCinsCCAAACAGACGTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:86126497-86126500	CCAAACAGACGTT	ENSG00000133740	ENST00000519128	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	2799-2801	-	-	-	-	-	-	1	E2F5	HGNC	-	processed_transcript	-	-	-	ENST00000519128.1:n.2799_2801delGTCinsCCAAACAGACGTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:86126497-86126500	CCAAACAGACGTT	ENSG00000176731	ENST00000458398	Transcript	downstream_gene_variant	-	-	-	-	-	-	291	-1	C8orf59	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:86126497-86126500	CCAAACAGACGTT	ENSG00000133740	ENST00000520225	Transcript	frameshift_variant,feature_elongation	349-351	351-353	117-118	-	-	-	-	1	E2F5	HGNC	-	protein_coding	-	-	Transmembrane_helices:Tmhmm	ENST00000520225.1:c.349_351delGTCinsCCAAACAGACGTT	ENSP00000430461.1:p.Met117IlefsTer26	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:86126497-86126500	CCAAACAGACGTT	ENSG00000176731	ENST00000431163	Transcript	3_prime_UTR_variant,feature_elongation	540-542	-	-	-	-	-	-	-1	C8orf59	HGNC	-	protein_coding	-	-	-	ENST00000431163.2:c.*295_*297delGACinsAACGTCTGTTTGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:95423478-95423491	G	ENSG00000197275	ENST00000463267	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_truncation	501-513	-	-	-	-	-	-	-1	RAD54B	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000463267.1:c.*37_*49delTGATAGCCTAGTTinsC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:95423478-95423491	G	ENSG00000197275	ENST00000336148	Transcript	feature_truncation	482-494	357-369	119-123	SDSLV/S	tcTGATAGCCTAGTT/tcC	-	-	-1	RAD54B	HGNC	17228	protein_coding	-	-	-	ENST00000336148.5:c.357_369delTGATAGCCTAGTTinsC	ENSP00000336606.5:p.Asp120_Val123del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:95423478-95423491	G	ENSG00000197275	ENST00000518998	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_truncation	258-270	-	-	-	-	-	-	-1	RAD54B	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000518998.1:c.*29_*41delTGATAGCCTAGTTinsC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:95423478-95423491	G	ENSG00000265817	ENST00000517506	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_truncation	511-523	-	-	-	-	-	-	-1	FSBP	HGNC	43653	nonsense_mediated_decay	-	-	-	ENST00000517506.2:c.*37_*49delTGATAGCCTAGTTinsC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:95423478-95423491	G	ENSG00000197275	ENST00000523839	Transcript	feature_truncation	452-464	357-369	119-123	SDSLV/S	tcTGATAGCCTAGTT/tcC	-	-	-1	RAD54B	HGNC	-	protein_coding	-	-	-	ENST00000523839.1:c.357_369delTGATAGCCTAGTTinsC	ENSP00000428554.1:p.Asp120_Val123del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145008155-145008159	CGACTGCTGCCTCACCGACTG	ENSG00000178209	ENST00000532346	Transcript	downstream_gene_variant	-	-	-	-	-	-	3673	-1	PLEC	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145008155-145008159	CGACTGCTGCCTCACCGACTG	ENSG00000178209	ENST00000527816	Transcript	downstream_gene_variant	-	-	-	-	-	-	1927	-1	PLEC	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145008155-145008159	CGACTGCTGCCTCACCGACTG	ENSG00000178209	ENST00000322810	Transcript	splice_region_variant,intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	PLEC	HGNC	-	protein_coding	-	-	-	ENST00000322810.4:c.1674+7_1674+10delGGGTinsCAGTCGGTGAGGCAGCAGTCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145008155-145008159	CGACTGCTGCCTCACCGACTG	ENSG00000178209	ENST00000526416	Transcript	downstream_gene_variant	-	-	-	-	-	-	1286	-1	PLEC	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145008155-145008159	CGACTGCTGCCTCACCGACTG	ENSG00000178209	ENST00000527096	Transcript	splice_region_variant,intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	PLEC	HGNC	-	protein_coding	-	-	-	ENST00000527096.1:c.1332+7_1332+10delGGGTinsCAGTCGGTGAGGCAGCAGTCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145008155-145008159	CGACTGCTGCCTCACCGACTG	ENSG00000178209	ENST00000345136	Transcript	splice_region_variant,intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	PLEC	HGNC	9069	protein_coding	-	-	-	ENST00000345136.3:c.1263+7_1263+10delGGGTinsCAGTCGGTGAGGCAGCAGTCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145008155-145008159	CGACTGCTGCCTCACCGACTG	ENSG00000178209	ENST00000357649	Transcript	splice_region_variant,intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	PLEC	HGNC	-	protein_coding	-	-	-	ENST00000357649.2:c.1275+7_1275+10delGGGTinsCAGTCGGTGAGGCAGCAGTCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145008155-145008159	CGACTGCTGCCTCACCGACTG	ENSG00000178209	ENST00000398774	Transcript	splice_region_variant,intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	PLEC	HGNC	-	protein_coding	-	-	-	ENST00000398774.2:c.1167+7_1167+10delGGGTinsCAGTCGGTGAGGCAGCAGTCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145008155-145008159	CGACTGCTGCCTCACCGACTG	ENSG00000178209	ENST00000528025	Transcript	splice_region_variant,intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	PLEC	HGNC	-	protein_coding	-	-	-	ENST00000528025.1:c.1395+7_1395+10delGGGTinsCAGTCGGTGAGGCAGCAGTCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145008155-145008159	CGACTGCTGCCTCACCGACTG	ENSG00000178209	ENST00000354589	Transcript	splice_region_variant,intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	PLEC	HGNC	-	protein_coding	-	-	-	ENST00000354589.3:c.1263+7_1263+10delGGGTinsCAGTCGGTGAGGCAGCAGTCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145008155-145008159	CGACTGCTGCCTCACCGACTG	ENSG00000178209	ENST00000356346	Transcript	splice_region_variant,intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	PLEC	HGNC	-	protein_coding	-	-	-	ENST00000356346.3:c.1221+7_1221+10delGGGTinsCAGTCGGTGAGGCAGCAGTCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145008155-145008159	CGACTGCTGCCTCACCGACTG	ENSG00000178209	ENST00000436759	Transcript	splice_region_variant,intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	PLEC	HGNC	-	protein_coding	-	-	-	ENST00000436759.2:c.1344+7_1344+10delGGGTinsCAGTCGGTGAGGCAGCAGTCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145008155-145008159	CGACTGCTGCCTCACCGACTG	ENSG00000178209	ENST00000528131	Transcript	downstream_gene_variant	-	-	-	-	-	-	1988	-1	PLEC	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145008155-145008159	CGACTGCTGCCTCACCGACTG	ENSG00000178209	ENST00000354958	Transcript	splice_region_variant,intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	PLEC	HGNC	-	protein_coding	-	-	-	ENST00000354958.2:c.1197+7_1197+10delGGGTinsCAGTCGGTGAGGCAGCAGTCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145008155-145008159	CGACTGCTGCCTCACCGACTG	-	ENSR00001404320	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145008155-145008159	CGACTGCTGCCTCACCGACTG	-	PB0010.1	MotifFeature	TF_binding_site_variant	-	-	-	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Jaspar_Matrix_Egr1:PB0010.1	4	N	-
.	8:145008155	CGACT	ENSG00000178209	ENST00000532346	Transcript	downstream_gene_variant	-	-	-	-	-	TMP_ESP_8_145008156_145008155	3676	-1	PLEC	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	CGACTGCTGCCTCACCG:0.034492	CGACTGCTGCCTCACCG:0	-	-	-	-	-	-
.	8:145008155	CGACT	ENSG00000178209	ENST00000527816	Transcript	downstream_gene_variant	-	-	-	-	-	TMP_ESP_8_145008156_145008155	1930	-1	PLEC	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	CGACTGCTGCCTCACCG:0.034492	CGACTGCTGCCTCACCG:0	-	-	-	-	-	-
.	8:145008155	CGACT	ENSG00000178209	ENST00000322810	Transcript	intron_variant,feature_elongation	-	-	-	-	-	TMP_ESP_8_145008156_145008155	-	-1	PLEC	HGNC	-	protein_coding	-	-	-	ENST00000322810.4:c.1674+10_1674+11insAGTCG	-	-	-	-	-	-	CGACTGCTGCCTCACCG:0.034492	CGACTGCTGCCTCACCG:0	-	-	-	-	-	-
.	8:145008155	CGACT	ENSG00000178209	ENST00000526416	Transcript	downstream_gene_variant	-	-	-	-	-	TMP_ESP_8_145008156_145008155	1289	-1	PLEC	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	CGACTGCTGCCTCACCG:0.034492	CGACTGCTGCCTCACCG:0	-	-	-	-	-	-
.	8:145008155	CGACT	ENSG00000178209	ENST00000527096	Transcript	intron_variant,feature_elongation	-	-	-	-	-	TMP_ESP_8_145008156_145008155	-	-1	PLEC	HGNC	-	protein_coding	-	-	-	ENST00000527096.1:c.1332+10_1332+11insAGTCG	-	-	-	-	-	-	CGACTGCTGCCTCACCG:0.034492	CGACTGCTGCCTCACCG:0	-	-	-	-	-	-
.	8:145008155	CGACT	ENSG00000178209	ENST00000345136	Transcript	intron_variant,feature_elongation	-	-	-	-	-	TMP_ESP_8_145008156_145008155	-	-1	PLEC	HGNC	9069	protein_coding	-	-	-	ENST00000345136.3:c.1263+10_1263+11insAGTCG	-	-	-	-	-	-	CGACTGCTGCCTCACCG:0.034492	CGACTGCTGCCTCACCG:0	-	-	-	-	-	-
.	8:145008155	CGACT	ENSG00000178209	ENST00000357649	Transcript	intron_variant,feature_elongation	-	-	-	-	-	TMP_ESP_8_145008156_145008155	-	-1	PLEC	HGNC	-	protein_coding	-	-	-	ENST00000357649.2:c.1275+10_1275+11insAGTCG	-	-	-	-	-	-	CGACTGCTGCCTCACCG:0.034492	CGACTGCTGCCTCACCG:0	-	-	-	-	-	-
.	8:145008155	CGACT	ENSG00000178209	ENST00000398774	Transcript	intron_variant,feature_elongation	-	-	-	-	-	TMP_ESP_8_145008156_145008155	-	-1	PLEC	HGNC	-	protein_coding	-	-	-	ENST00000398774.2:c.1167+10_1167+11insAGTCG	-	-	-	-	-	-	CGACTGCTGCCTCACCG:0.034492	CGACTGCTGCCTCACCG:0	-	-	-	-	-	-
.	8:145008155	CGACT	ENSG00000178209	ENST00000528025	Transcript	intron_variant,feature_elongation	-	-	-	-	-	TMP_ESP_8_145008156_145008155	-	-1	PLEC	HGNC	-	protein_coding	-	-	-	ENST00000528025.1:c.1395+10_1395+11insAGTCG	-	-	-	-	-	-	CGACTGCTGCCTCACCG:0.034492	CGACTGCTGCCTCACCG:0	-	-	-	-	-	-
.	8:145008155	CGACT	ENSG00000178209	ENST00000354589	Transcript	intron_variant,feature_elongation	-	-	-	-	-	TMP_ESP_8_145008156_145008155	-	-1	PLEC	HGNC	-	protein_coding	-	-	-	ENST00000354589.3:c.1263+10_1263+11insAGTCG	-	-	-	-	-	-	CGACTGCTGCCTCACCG:0.034492	CGACTGCTGCCTCACCG:0	-	-	-	-	-	-
.	8:145008155	CGACT	ENSG00000178209	ENST00000356346	Transcript	intron_variant,feature_elongation	-	-	-	-	-	TMP_ESP_8_145008156_145008155	-	-1	PLEC	HGNC	-	protein_coding	-	-	-	ENST00000356346.3:c.1221+10_1221+11insAGTCG	-	-	-	-	-	-	CGACTGCTGCCTCACCG:0.034492	CGACTGCTGCCTCACCG:0	-	-	-	-	-	-
.	8:145008155	CGACT	ENSG00000178209	ENST00000436759	Transcript	intron_variant,feature_elongation	-	-	-	-	-	TMP_ESP_8_145008156_145008155	-	-1	PLEC	HGNC	-	protein_coding	-	-	-	ENST00000436759.2:c.1344+10_1344+11insAGTCG	-	-	-	-	-	-	CGACTGCTGCCTCACCG:0.034492	CGACTGCTGCCTCACCG:0	-	-	-	-	-	-
.	8:145008155	CGACT	ENSG00000178209	ENST00000528131	Transcript	downstream_gene_variant	-	-	-	-	-	TMP_ESP_8_145008156_145008155	1991	-1	PLEC	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	CGACTGCTGCCTCACCG:0.034492	CGACTGCTGCCTCACCG:0	-	-	-	-	-	-
.	8:145008155	CGACT	ENSG00000178209	ENST00000354958	Transcript	intron_variant,feature_elongation	-	-	-	-	-	TMP_ESP_8_145008156_145008155	-	-1	PLEC	HGNC	-	protein_coding	-	-	-	ENST00000354958.2:c.1197+10_1197+11insAGTCG	-	-	-	-	-	-	CGACTGCTGCCTCACCG:0.034492	CGACTGCTGCCTCACCG:0	-	-	-	-	-	-
.	8:145008155	CGACT	-	ENSR00001404320	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	TMP_ESP_8_145008156_145008155	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	CGACTGCTGCCTCACCG:0.034492	CGACTGCTGCCTCACCG:0	-	-	-	-	-	-
.	8:145008155	CGACT	-	PB0010.1	MotifFeature	TF_binding_site_variant	-	-	-	-	-	TMP_ESP_8_145008156_145008155	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	CGACTGCTGCCTCACCG:0.034492	CGACTGCTGCCTCACCG:0	-	-	Jaspar_Matrix_Egr1:PB0010.1	4	N	-
.	8:145622990-145623005	GGCCGC	ENSG00000221802	ENST00000408875	Transcript	downstream_gene_variant	-	-	-	-	-	-	2471	-1	MIR1234	HGNC	33926	miRNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145622990-145623005	GGCCGC	ENSG00000216133	ENST00000401314	Transcript	upstream_gene_variant	-	-	-	-	-	-	3546	-1	MIR939	HGNC	33682	miRNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145622990-145623005	GGCCGC	ENSG00000071894	ENST00000349769	Transcript	feature_truncation	2258-2272	2163-2177	721-726	LGGRSG/LRP	ctCGGGGGCCGCAGTGGc/ctGCGGCCc	-	-	-1	CPSF1	HGNC	-	protein_coding	-	-	-	ENST00000349769.3:c.2163_2177delCGGGGGCCGCAGTGGinsGCGGCC	ENSP00000339353.3:p.Gly722_Gly726delinsArgPro	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145622990-145623005	GGCCGC	ENSG00000071894	ENST00000533492	Transcript	downstream_gene_variant	-	-	-	-	-	-	1605	-1	CPSF1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145622990-145623005	GGCCGC	ENSG00000071894	ENST00000531042	Transcript	downstream_gene_variant	-	-	-	-	-	-	3328	-1	CPSF1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145622990-145623005	GGCCGC	ENSG00000173137	ENST00000529654	Transcript	downstream_gene_variant	-	-	-	-	-	-	4534	1	ADCK5	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145622990-145623005	GGCCGC	ENSG00000071894	ENST00000531480	Transcript	upstream_gene_variant	-	-	-	-	-	-	3360	-1	CPSF1	HGNC	2324	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145622990-145623005	GGCCGC	ENSG00000071894	ENST00000527827	Transcript	upstream_gene_variant	-	-	-	-	-	-	1046	-1	CPSF1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145622990-145623005	GGCCGC	ENSG00000071894	ENST00000531727	Transcript	upstream_gene_variant	-	-	-	-	-	-	3335	-1	CPSF1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145622990-145623005	GGCCGC	ENSG00000173137	ENST00000308860	Transcript	downstream_gene_variant	-	-	-	-	-	-	4540	1	ADCK5	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145622990-145623005	GGCCGC	ENSG00000071894	ENST00000532725	Transcript	upstream_gene_variant	-	-	-	-	-	-	3539	-1	CPSF1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145622990-145623005	GGCCGC	ENSG00000071894	ENST00000526271	Transcript	upstream_gene_variant	-	-	-	-	-	-	3060	-1	CPSF1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145622990-145623005	GGCCGC	ENSG00000071894	ENST00000532935	Transcript	upstream_gene_variant	-	-	-	-	-	-	3015	-1	CPSF1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145622990-145623005	GGCCGC	ENSG00000071894	ENST00000529288	Transcript	upstream_gene_variant	-	-	-	-	-	-	1797	-1	CPSF1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145622990-145623005	GGCCGC	ENSG00000071894	ENST00000532560	Transcript	downstream_gene_variant	-	-	-	-	-	-	2185	-1	CPSF1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145622990-145623005	GGCCGC	ENSG00000071894	ENST00000527916	Transcript	downstream_gene_variant	-	-	-	-	-	-	908	-1	CPSF1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145622990-145623005	GGCCGC	ENSG00000071894	ENST00000531683	Transcript	downstream_gene_variant	-	-	-	-	-	-	2194	-1	CPSF1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	8:145622990-145622997	-	ENSG00000221802	ENST00000408875	Transcript	downstream_gene_variant	-	-	-	-	-	TMP_ESP_8_145622991_145622997	2479	-1	MIR1234	HGNC	33926	miRNA	-	-	-	-	-	-	-	-	-	-	-:0.002846	-:0.000367	-	-	-	-	-	-
.	8:145622990-145622997	-	ENSG00000216133	ENST00000401314	Transcript	upstream_gene_variant	-	-	-	-	-	TMP_ESP_8_145622991_145622997	3546	-1	MIR939	HGNC	33682	miRNA	-	-	-	-	-	-	-	-	-	-	-:0.002846	-:0.000367	-	-	-	-	-	-
.	8:145622990-145622997	-	ENSG00000071894	ENST00000349769	Transcript	frameshift_variant,feature_truncation	2266-2272	2171-2177	724-726	-	-	TMP_ESP_8_145622991_145622997	-	-1	CPSF1	HGNC	-	protein_coding	-	-	-	ENST00000349769.3:c.2171_2177delGCAGTGG	ENSP00000339353.3:p.Arg724ProfsTer83	-	-	-	-	-	-:0.002846	-:0.000367	-	-	-	-	-	-
.	8:145622990-145622997	-	ENSG00000071894	ENST00000533492	Transcript	downstream_gene_variant	-	-	-	-	-	TMP_ESP_8_145622991_145622997	1613	-1	CPSF1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-:0.002846	-:0.000367	-	-	-	-	-	-
.	8:145622990-145622997	-	ENSG00000071894	ENST00000531042	Transcript	downstream_gene_variant	-	-	-	-	-	TMP_ESP_8_145622991_145622997	3336	-1	CPSF1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-:0.002846	-:0.000367	-	-	-	-	-	-
.	8:145622990-145622997	-	ENSG00000173137	ENST00000529654	Transcript	downstream_gene_variant	-	-	-	-	-	TMP_ESP_8_145622991_145622997	4534	1	ADCK5	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-:0.002846	-:0.000367	-	-	-	-	-	-
.	8:145622990-145622997	-	ENSG00000071894	ENST00000531480	Transcript	upstream_gene_variant	-	-	-	-	-	TMP_ESP_8_145622991_145622997	3360	-1	CPSF1	HGNC	2324	retained_intron	-	-	-	-	-	-	-	-	-	-	-:0.002846	-:0.000367	-	-	-	-	-	-
.	8:145622990-145622997	-	ENSG00000071894	ENST00000527827	Transcript	upstream_gene_variant	-	-	-	-	-	TMP_ESP_8_145622991_145622997	1046	-1	CPSF1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-:0.002846	-:0.000367	-	-	-	-	-	-
.	8:145622990-145622997	-	ENSG00000071894	ENST00000531727	Transcript	upstream_gene_variant	-	-	-	-	-	TMP_ESP_8_145622991_145622997	3335	-1	CPSF1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-:0.002846	-:0.000367	-	-	-	-	-	-
.	8:145622990-145622997	-	ENSG00000173137	ENST00000308860	Transcript	downstream_gene_variant	-	-	-	-	-	TMP_ESP_8_145622991_145622997	4540	1	ADCK5	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-:0.002846	-:0.000367	-	-	-	-	-	-
.	8:145622990-145622997	-	ENSG00000071894	ENST00000532725	Transcript	upstream_gene_variant	-	-	-	-	-	TMP_ESP_8_145622991_145622997	3539	-1	CPSF1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-:0.002846	-:0.000367	-	-	-	-	-	-
.	8:145622990-145622997	-	ENSG00000071894	ENST00000526271	Transcript	upstream_gene_variant	-	-	-	-	-	TMP_ESP_8_145622991_145622997	3060	-1	CPSF1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-:0.002846	-:0.000367	-	-	-	-	-	-
.	8:145622990-145622997	-	ENSG00000071894	ENST00000532935	Transcript	upstream_gene_variant	-	-	-	-	-	TMP_ESP_8_145622991_145622997	3015	-1	CPSF1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-:0.002846	-:0.000367	-	-	-	-	-	-
.	8:145622990-145622997	-	ENSG00000071894	ENST00000529288	Transcript	upstream_gene_variant	-	-	-	-	-	TMP_ESP_8_145622991_145622997	1797	-1	CPSF1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-:0.002846	-:0.000367	-	-	-	-	-	-
.	8:145622990-145622997	-	ENSG00000071894	ENST00000532560	Transcript	downstream_gene_variant	-	-	-	-	-	TMP_ESP_8_145622991_145622997	2193	-1	CPSF1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-:0.002846	-:0.000367	-	-	-	-	-	-
.	8:145622990-145622997	-	ENSG00000071894	ENST00000527916	Transcript	downstream_gene_variant	-	-	-	-	-	TMP_ESP_8_145622991_145622997	916	-1	CPSF1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-:0.002846	-:0.000367	-	-	-	-	-	-
.	8:145622990-145622997	-	ENSG00000071894	ENST00000531683	Transcript	downstream_gene_variant	-	-	-	-	-	TMP_ESP_8_145622991_145622997	2202	-1	CPSF1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-:0.002846	-:0.000367	-	-	-	-	-	-
.	9:38411406-38411415	GAT	ENSG00000137142	ENST00000377694	Transcript	feature_truncation	842-850	819-827	273-276	APDD/AS	gcTCCCGATGAc/gcATCc	-	-	-1	IGFBPL1	HGNC	20081	protein_coding	-	-	PIRSF_domain:PIRSF018239	ENST00000377694.1:c.819_827delTCCCGATGAinsATC	ENSP00000366923.1:p.Pro274_Asp276delinsSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:69391170-69391181	ACTAAAGAC	ENSG00000238551	ENST00000459461	Transcript	upstream_gene_variant	-	-	-	-	-	-	1431	1	RNU6-1193P	HGNC	48156	snRNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:69391170-69391181	ACTAAAGAC	ENSG00000172014	ENST00000427650	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	1169-1179	-	-	-	-	-	-	1	ANKRD20A4	HGNC	-	retained_intron	-	-	-	ENST00000427650.2:n.1169_1179delGCTCAAGACATinsACTAAAGAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:69391170-69391181	ACTAAAGAC	ENSG00000172014	ENST00000357336	Transcript	frameshift_variant,feature_truncation	960-970	679-689	227-230	-	-	-	-	1	ANKRD20A4	HGNC	31982	protein_coding	-	-	PROSITE_profiles:PS50297,SMART_domains:SM00248,Superfamily_domains:SSF48403	ENST00000357336.3:c.679_689delGCTCAAGACATinsACTAAAGAC	ENSP00000349891.3:p.Ala227ThrfsTer28	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:88356832-88356841	AGCTGCGGCGGCGGCGCTGGA	ENSG00000135049	ENST00000357081	Transcript	upstream_gene_variant	-	-	-	-	-	-	32	-1	AGTPBP1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:88356832-88356841	AGCTGCGGCGGCGGCGCTGGA	ENSG00000135049	ENST00000376083	Transcript	upstream_gene_variant	-	-	-	-	-	-	100	-1	AGTPBP1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:88356832-88356841	AGCTGCGGCGGCGGCGCTGGA	ENSG00000135049	ENST00000337006	Transcript	5_prime_UTR_variant,feature_elongation	104-112	-	-	-	-	-	-	-1	AGTPBP1	HGNC	17258	protein_coding	-	-	-	ENST00000337006.4:c.-359_-351delGCAGCTGCCinsTCCAGCGCCGCCGCCGCAGCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:88356832-88356841	AGCTGCGGCGGCGGCGCTGGA	ENSG00000135049	ENST00000376081	Transcript	upstream_gene_variant	-	-	-	-	-	-	30	-1	AGTPBP1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:88356832-88356841	AGCTGCGGCGGCGGCGCTGGA	ENSG00000135049	ENST00000376109	Transcript	inframe_insertion	104-112	37-45	13-15	AAA/SSAAAAA	GCAGCTGCC/TCCAGCGCCGCCGCCGCAGCT	-	-	-1	AGTPBP1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50310	ENST00000376109.3:c.37_45delGCAGCTGCCinsTCCAGCGCCGCCGCCGCAGCT	ENSP00000365277.3:p.Ala12_Ala13insSerSerAlaAla	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:88356832-88356841	AGCTGCGGCGGCGGCGCTGGA	-	ENSR00001307244	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:88356832-88356841	AGCTGCGGCGGCGGCGCTGGA	-	MA0162.1	MotifFeature	TF_binding_site_variant	-	-	-	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Jaspar_Matrix_Egr1:MA0162.1	-5	N	-
.	9:97080922-97080932	TCTT	ENSG00000130950	ENST00000335456	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	NUTM2F	HGNC	-	protein_coding	-	-	-	ENST00000335456.7:c.1441-594_1441-585delTCCAAGAAGCinsAAGA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:97080922-97080932	TCTT	ENSG00000130950	ENST00000341207	Transcript	feature_truncation	2062-2071	2041-2050	681-684	SKKR/KR	TCCAAGAAGCga/AAGAga	-	-	-1	NUTM2F	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000341207.4:c.2041_2050delTCCAAGAAGCinsAAGA	ENSP00000343865.4:p.Ser681_Lys682del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:97080922-97080932	TCTT	ENSG00000130950	ENST00000253262	Transcript	feature_truncation	2107-2116	2086-2095	696-699	SKKR/KR	TCCAAGAAGCga/AAGAga	-	-	-1	NUTM2F	HGNC	23450	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000253262.4:c.2086_2095delTCCAAGAAGCinsAAGA	ENSP00000253262.4:p.Ser696_Lys697del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:98534581-98534583	ACACACACACACACACACACACACAC	ENSG00000175611	ENST00000433656	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	LINC00476	HGNC	27858	processed_transcript	-	-	-	ENST00000433656.2:n.631+1587_631+1588delAGinsGTGTGTGTGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:98534581-98534583	ACACACACACACACACACACACACAC	ENSG00000268926	ENST00000600140	Transcript	upstream_gene_variant	-	-	-	-	-	-	22	1	DKFZP434H0512	Uniprot_gn	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:98534581-98534583	ACACACACACACACACACACACACAC	-	ENSR00001309145	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:127302278-127302290	TAAAGCTCACCTTTAAGGGATTTGCCTTAAAGCTCACC	ENSG00000148200	ENST00000475178	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	NR6A1	HGNC	-	protein_coding	-	-	-	ENST00000475178.1:c.470+22_470+33delTGGTCATCATCTinsGGTGAGCTTTAAGGCAAATCCCTTAAAGGTGAGCTTTA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:127302278-127302290	TAAAGCTCACCTTTAAGGGATTTGCCTTAAAGCTCACC	ENSG00000148200	ENST00000416460	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	NR6A1	HGNC	-	protein_coding	-	-	-	ENST00000416460.2:c.584+22_584+33delTGGTCATCATCTinsGGTGAGCTTTAAGGCAAATCCCTTAAAGGTGAGCTTTA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:127302278-127302290	TAAAGCTCACCTTTAAGGGATTTGCCTTAAAGCTCACC	ENSG00000148200	ENST00000344523	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	NR6A1	HGNC	-	protein_coding	-	-	-	ENST00000344523.4:c.596+22_596+33delTGGTCATCATCTinsGGTGAGCTTTAAGGCAAATCCCTTAAAGGTGAGCTTTA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:127302278-127302290	TAAAGCTCACCTTTAAGGGATTTGCCTTAAAGCTCACC	ENSG00000148200	ENST00000373584	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	NR6A1	HGNC	-	protein_coding	-	-	-	ENST00000373584.3:c.584+22_584+33delTGGTCATCATCTinsGGTGAGCTTTAAGGCAAATCCCTTAAAGGTGAGCTTTA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:127302278-127302290	TAAAGCTCACCTTTAAGGGATTTGCCTTAAAGCTCACC	ENSG00000148200	ENST00000487099	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	NR6A1	HGNC	7985	protein_coding	-	-	-	ENST00000487099.2:c.596+22_596+33delTGGTCATCATCTinsGGTGAGCTTTAAGGCAAATCCCTTAAAGGTGAGCTTTA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:136221515-136221525	AT	ENSG00000148291	ENST00000371964	Transcript	upstream_gene_variant	-	-	-	-	-	-	1903	1	SURF2	HGNC	11475	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:136221515-136221525	AT	ENSG00000148290	ENST00000371974	Transcript	frameshift_variant,splice_region_variant,feature_truncation	344-353	312-321	104-107	-	-	-	-	-1	SURF1	HGNC	11474	protein_coding	-	-	Pfam_domain:PF02104,PROSITE_profiles:PS50895	ENST00000371974.3:c.312_321delTCTGCCAGCCinsAT	ENSP00000361042.3:p.Leu105Ter	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:136221515-136221525	AT	ENSG00000148291	ENST00000486887	Transcript	upstream_gene_variant	-	-	-	-	-	-	2399	1	SURF2	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:136221515-136221525	AT	ENSG00000252542	ENST00000516733	Transcript	downstream_gene_variant	-	-	-	-	-	-	3749	1	SNORD36C	HGNC	10165	snoRNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:136221515-136221525	AT	ENSG00000148303	ENST00000496554	Transcript	downstream_gene_variant	-	-	-	-	-	-	3966	1	RPL7A	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:136221515-136221525	AT	ENSG00000148290	ENST00000437995	Transcript	splice_region_variant,non_coding_exon_variant,nc_transcript_variant,feature_truncation	258-267	-	-	-	-	-	-	-1	SURF1	HGNC	-	retained_intron	-	-	-	ENST00000437995.1:n.258_267delTCTGCCAGCCinsAT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:136221515-136221525	AT	ENSG00000148303	ENST00000468019	Transcript	downstream_gene_variant	-	-	-	-	-	-	3289	1	RPL7A	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:136221515-136221525	AT	ENSG00000148303	ENST00000426651	Transcript	downstream_gene_variant	-	-	-	-	-	-	4343	1	RPL7A	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:136221515-136221525	AT	ENSG00000148303	ENST00000315731	Transcript	downstream_gene_variant	-	-	-	-	-	-	3235	1	RPL7A	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:136221515-136221525	AT	ENSG00000148303	ENST00000485706	Transcript	downstream_gene_variant	-	-	-	-	-	-	4278	1	RPL7A	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:136221515-136221525	AT	ENSG00000148303	ENST00000489392	Transcript	downstream_gene_variant	-	-	-	-	-	-	3276	1	RPL7A	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:136221515-136221525	AT	ENSG00000148291	ENST00000495524	Transcript	upstream_gene_variant	-	-	-	-	-	-	1929	1	SURF2	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:136221515-136221525	AT	ENSG00000148290	ENST00000495952	Transcript	upstream_gene_variant	-	-	-	-	-	-	408	-1	SURF1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:136221515-136221525	AT	ENSG00000148303	ENST00000323345	Transcript	downstream_gene_variant	-	-	-	-	-	-	3235	1	RPL7A	HGNC	10364	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:136221515-136221525	AT	ENSG00000148303	ENST00000463740	Transcript	downstream_gene_variant	-	-	-	-	-	-	3235	1	RPL7A	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:136221515-136221525	AT	ENSG00000199744	ENST00000362874	Transcript	downstream_gene_variant	-	-	-	-	-	-	4133	1	SNORD36A	HGNC	10163	snoRNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:136221515-136221525	AT	ENSG00000148290	ENST00000463965	Transcript	downstream_gene_variant	-	-	-	-	-	-	1435	-1	SURF1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:136221515-136221525	AT	ENSG00000200831	ENST00000363961	Transcript	downstream_gene_variant	-	-	-	-	-	-	4493	1	SNORD36B	HGNC	10164	snoRNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	9:136221515-136221525	AT	ENSG00000148303	ENST00000492798	Transcript	downstream_gene_variant	-	-	-	-	-	-	3248	1	RPL7A	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:608502-608514	-	ENSG00000185507	ENST00000532326	Transcript	downstream_gene_variant	-	-	-	-	-	COSM111690,COSM429386,rs144630030	4077	-1	IRF7	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-:0.0680	-:0.20	-:0.06	-	-:0.04	-:0.172405	-:0.054207	-	1,1,0	-	-	-	-
.	11:608502-608514	-	ENSG00000185507	ENST00000531912	Transcript	downstream_gene_variant	-	-	-	-	-	COSM111690,COSM429386,rs144630030	4074	-1	IRF7	HGNC	-	retained_intron	-	-	-	-	-	-:0.0680	-:0.20	-:0.06	-	-:0.04	-:0.172405	-:0.054207	-	1,1,0	-	-	-	-
.	11:608502-608514	-	ENSG00000185507	ENST00000330243	Transcript	downstream_gene_variant	-	-	-	-	-	COSM111690,COSM429386,rs144630030	4077	-1	IRF7	HGNC	-	protein_coding	-	-	-	-	-	-:0.0680	-:0.20	-:0.06	-	-:0.04	-:0.172405	-:0.054207	-	1,1,0	-	-	-	-
.	11:608502-608514	-	ENSG00000185507	ENST00000528413	Transcript	downstream_gene_variant	-	-	-	-	-	COSM111690,COSM429386,rs144630030	4069	-1	IRF7	HGNC	-	retained_intron	-	-	-	-	-	-:0.0680	-:0.20	-:0.06	-	-:0.04	-:0.172405	-:0.054207	-	1,1,0	-	-	-	-
.	11:608502-608514	-	ENSG00000185507	ENST00000397566	Transcript	downstream_gene_variant	-	-	-	-	-	COSM111690,COSM429386,rs144630030	4041	-1	IRF7	HGNC	-	protein_coding	-	-	-	-	-	-:0.0680	-:0.20	-:0.06	-	-:0.04	-:0.172405	-:0.054207	-	1,1,0	-	-	-	-
.	11:608502-608514	-	ENSG00000185507	ENST00000348655	Transcript	downstream_gene_variant	-	-	-	-	-	COSM111690,COSM429386,rs144630030	4041	-1	IRF7	HGNC	-	protein_coding	-	-	-	-	-	-:0.0680	-:0.20	-:0.06	-	-:0.04	-:0.172405	-:0.054207	-	1,1,0	-	-	-	-
.	11:608502-608514	-	ENSG00000185507	ENST00000525445	Transcript	downstream_gene_variant	-	-	-	-	-	COSM111690,COSM429386,rs144630030	4039	-1	IRF7	HGNC	6122	protein_coding	-	-	-	-	-	-:0.0680	-:0.20	-:0.06	-	-:0.04	-:0.172405	-:0.054207	-	1,1,0	-	-	-	-
.	11:608502-608514	-	ENSG00000070047	ENST00000264555	Transcript	inframe_deletion	3175-3186	3047-3058	1016-1020	RTRSG/R	cGGACGCGCTCTGgg/cgg	COSM111690,COSM429386,rs144630030	-	1	PHRF1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50323,PROSITE_profiles:PS50324	ENST00000264555.5:c.3047_3058delGGACGCGCTCTG	ENSP00000264555.5:p.Thr1017_Gly1020del	-:0.0680	-:0.20	-:0.06	-	-:0.04	-:0.172405	-:0.054207	-	1,1,0	-	-	-	-
.	11:608502-608514	-	ENSG00000185507	ENST00000469048	Transcript	downstream_gene_variant	-	-	-	-	-	COSM111690,COSM429386,rs144630030	4069	-1	IRF7	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-:0.0680	-:0.20	-:0.06	-	-:0.04	-:0.172405	-:0.054207	-	1,1,0	-	-	-	-
.	11:608502-608514	-	ENSG00000185507	ENST00000397570	Transcript	downstream_gene_variant	-	-	-	-	-	COSM111690,COSM429386,rs144630030	4041	-1	IRF7	HGNC	-	protein_coding	-	-	-	-	-	-:0.0680	-:0.20	-:0.06	-	-:0.04	-:0.172405	-:0.054207	-	1,1,0	-	-	-	-
.	11:608502-608514	-	ENSG00000185507	ENST00000533182	Transcript	downstream_gene_variant	-	-	-	-	-	COSM111690,COSM429386,rs144630030	4047	-1	IRF7	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-:0.0680	-:0.20	-:0.06	-	-:0.04	-:0.172405	-:0.054207	-	1,1,0	-	-	-	-
.	11:608502-608514	-	ENSG00000070047	ENST00000532550	Transcript	downstream_gene_variant	-	-	-	-	-	COSM111690,COSM429386,rs144630030	1661	1	PHRF1	HGNC	-	retained_intron	-	-	-	-	-	-:0.0680	-:0.20	-:0.06	-	-:0.04	-:0.172405	-:0.054207	-	1,1,0	-	-	-	-
.	11:608502-608514	-	ENSG00000070047	ENST00000413872	Transcript	inframe_deletion	3134-3145	3041-3052	1014-1018	RTRSG/R	cGGACGCGCTCTGgg/cgg	COSM111690,COSM429386,rs144630030	-	1	PHRF1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50323,PROSITE_profiles:PS50324	ENST00000413872.2:c.3041_3052delGGACGCGCTCTG	ENSP00000388589.2:p.Thr1015_Gly1018del	-:0.0680	-:0.20	-:0.06	-	-:0.04	-:0.172405	-:0.054207	-	1,1,0	-	-	-	-
.	11:608502-608514	-	ENSG00000070047	ENST00000533464	Transcript	inframe_deletion	3128-3139	3035-3046	1012-1016	RTRSG/R	cGGACGCGCTCTGgg/cgg	COSM111690,COSM429386,rs144630030	-	1	PHRF1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50323,PROSITE_profiles:PS50324	ENST00000533464.1:c.3035_3046delGGACGCGCTCTG	ENSP00000431870.1:p.Thr1013_Gly1016del	-:0.0680	-:0.20	-:0.06	-	-:0.04	-:0.172405	-:0.054207	-	1,1,0	-	-	-	-
.	11:608502-608514	-	ENSG00000185507	ENST00000397562	Transcript	downstream_gene_variant	-	-	-	-	-	COSM111690,COSM429386,rs144630030	4062	-1	IRF7	HGNC	-	protein_coding	-	-	-	-	-	-:0.0680	-:0.20	-:0.06	-	-:0.04	-:0.172405	-:0.054207	-	1,1,0	-	-	-	-
.	11:608502-608514	-	ENSG00000070047	ENST00000416188	Transcript	inframe_deletion	3137-3148	3044-3055	1015-1019	RTRSG/R	cGGACGCGCTCTGgg/cgg	COSM111690,COSM429386,rs144630030	-	1	PHRF1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50323,PROSITE_profiles:PS50324	ENST00000416188.2:c.3044_3055delGGACGCGCTCTG	ENSP00000410626.2:p.Thr1016_Gly1019del	-:0.0680	-:0.20	-:0.06	-	-:0.04	-:0.172405	-:0.054207	-	1,1,0	-	-	-	-
.	11:608502-608514	-	ENSG00000185507	ENST00000397574	Transcript	downstream_gene_variant	-	-	-	-	-	COSM111690,COSM429386,rs144630030	4045	-1	IRF7	HGNC	-	protein_coding	-	-	-	-	-	-:0.0680	-:0.20	-:0.06	-	-:0.04	-:0.172405	-:0.054207	-	1,1,0	-	-	-	-
.	11:608502-608514	-	ENSG00000070047	ENST00000534320	Transcript	inframe_deletion,NMD_transcript_variant	3175-3186	3047-3058	1016-1020	RTRSG/R	cGGACGCGCTCTGgg/cgg	COSM111690,COSM429386,rs144630030	-	1	PHRF1	HGNC	24351	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50323,PROSITE_profiles:PS50324	ENST00000534320.1:c.3047_3058delGGACGCGCTCTG	ENSP00000435360.1:p.Thr1017_Gly1020del	-:0.0680	-:0.20	-:0.06	-	-:0.04	-:0.172405	-:0.054207	-	1,1,0	-	-	-	-
.	11:608506-608519	A	ENSG00000185507	ENST00000532326	Transcript	downstream_gene_variant	-	-	-	-	-	-	4072	-1	IRF7	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:608506-608519	A	ENSG00000185507	ENST00000531912	Transcript	downstream_gene_variant	-	-	-	-	-	-	4069	-1	IRF7	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:608506-608519	A	ENSG00000185507	ENST00000330243	Transcript	downstream_gene_variant	-	-	-	-	-	-	4072	-1	IRF7	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:608506-608519	A	ENSG00000185507	ENST00000528413	Transcript	downstream_gene_variant	-	-	-	-	-	-	4064	-1	IRF7	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:608506-608519	A	ENSG00000185507	ENST00000397566	Transcript	downstream_gene_variant	-	-	-	-	-	-	4036	-1	IRF7	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:608506-608519	A	ENSG00000185507	ENST00000348655	Transcript	downstream_gene_variant	-	-	-	-	-	-	4036	-1	IRF7	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:608506-608519	A	ENSG00000185507	ENST00000525445	Transcript	downstream_gene_variant	-	-	-	-	-	-	4034	-1	IRF7	HGNC	6122	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:608506-608519	A	ENSG00000070047	ENST00000264555	Transcript	feature_truncation	3179-3191	3051-3063	1017-1021	TRSGT/T	acGCGCTCTGGGACG/acA	-	-	1	PHRF1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50323,PROSITE_profiles:PS50324	ENST00000264555.5:c.3051_3063delGCGCTCTGGGACGinsA	ENSP00000264555.5:p.Arg1018_Thr1021del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:608506-608519	A	ENSG00000185507	ENST00000469048	Transcript	downstream_gene_variant	-	-	-	-	-	-	4064	-1	IRF7	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:608506-608519	A	ENSG00000185507	ENST00000397570	Transcript	downstream_gene_variant	-	-	-	-	-	-	4036	-1	IRF7	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:608506-608519	A	ENSG00000185507	ENST00000533182	Transcript	downstream_gene_variant	-	-	-	-	-	-	4042	-1	IRF7	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:608506-608519	A	ENSG00000070047	ENST00000532550	Transcript	downstream_gene_variant	-	-	-	-	-	-	1665	1	PHRF1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:608506-608519	A	ENSG00000070047	ENST00000413872	Transcript	feature_truncation	3138-3150	3045-3057	1015-1019	TRSGT/T	acGCGCTCTGGGACG/acA	-	-	1	PHRF1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50323,PROSITE_profiles:PS50324	ENST00000413872.2:c.3045_3057delGCGCTCTGGGACGinsA	ENSP00000388589.2:p.Arg1016_Thr1019del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:608506-608519	A	ENSG00000070047	ENST00000533464	Transcript	feature_truncation	3132-3144	3039-3051	1013-1017	TRSGT/T	acGCGCTCTGGGACG/acA	-	-	1	PHRF1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50323,PROSITE_profiles:PS50324	ENST00000533464.1:c.3039_3051delGCGCTCTGGGACGinsA	ENSP00000431870.1:p.Arg1014_Thr1017del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:608506-608519	A	ENSG00000185507	ENST00000397562	Transcript	downstream_gene_variant	-	-	-	-	-	-	4057	-1	IRF7	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:608506-608519	A	ENSG00000070047	ENST00000416188	Transcript	feature_truncation	3141-3153	3048-3060	1016-1020	TRSGT/T	acGCGCTCTGGGACG/acA	-	-	1	PHRF1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50323,PROSITE_profiles:PS50324	ENST00000416188.2:c.3048_3060delGCGCTCTGGGACGinsA	ENSP00000410626.2:p.Arg1017_Thr1020del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:608506-608519	A	ENSG00000185507	ENST00000397574	Transcript	downstream_gene_variant	-	-	-	-	-	-	4040	-1	IRF7	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:608506-608519	A	ENSG00000070047	ENST00000534320	Transcript	NMD_transcript_variant,feature_truncation	3179-3191	3051-3063	1017-1021	TRSGT/T	acGCGCTCTGGGACG/acA	-	-	1	PHRF1	HGNC	24351	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50323,PROSITE_profiles:PS50324	ENST00000534320.1:c.3051_3063delGCGCTCTGGGACGinsA	ENSP00000435360.1:p.Arg1018_Thr1021del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:640056-640104	-	ENSG00000177030	ENST00000382409	Transcript	downstream_gene_variant	-	-	-	-	-	-	4129	-1	DEAF1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:640056-640104	-	ENSG00000177030	ENST00000527658	Transcript	downstream_gene_variant	-	-	-	-	-	-	4130	-1	DEAF1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:640056-640104	-	ENSG00000177030	ENST00000338675	Transcript	downstream_gene_variant	-	-	-	-	-	-	4129	-1	DEAF1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:640056-640104	-	ENSG00000069696	ENST00000528733	Transcript	downstream_gene_variant	-	-	-	-	-	-	264	1	DRD4	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:640056-640104	-	ENSG00000069696	ENST00000176183	Transcript	inframe_deletion	820-867	808-855	270-285	PRGPCGPDCAPAAPSL/-	CCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCAGCCTC/-	-	-	1	DRD4	HGNC	3025	protein_coding	-	-	Low_complexity_(Seg):Seg,Pfam_domain:PF00001,PROSITE_profiles:PS50099,PROSITE_profiles:PS50262,Superfamily_domains:SSF81321	ENST00000176183.5:c.808_855delCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCAGCCTC	ENSP00000176183.5:p.Pro270_Leu285del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:640056-640104	-	ENSG00000177030	ENST00000527170	Transcript	downstream_gene_variant	-	-	-	-	-	-	4129	-1	DEAF1	HGNC	14677	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:640056-640104	-	-	ENSR00000556882	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:640058-640073	A	ENSG00000177030	ENST00000382409	Transcript	downstream_gene_variant	-	-	-	-	-	-	4160	-1	DEAF1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:640058-640073	A	ENSG00000177030	ENST00000527658	Transcript	downstream_gene_variant	-	-	-	-	-	-	4161	-1	DEAF1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:640058-640073	A	ENSG00000177030	ENST00000338675	Transcript	downstream_gene_variant	-	-	-	-	-	-	4160	-1	DEAF1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:640058-640073	A	ENSG00000069696	ENST00000528733	Transcript	downstream_gene_variant	-	-	-	-	-	-	266	1	DRD4	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:640058-640073	A	ENSG00000069696	ENST00000176183	Transcript	frameshift_variant,feature_truncation	822-836	810-824	270-275	-	-	-	-	1	DRD4	HGNC	3025	protein_coding	-	-	Low_complexity_(Seg):Seg,Pfam_domain:PF00001,PROSITE_profiles:PS50099,PROSITE_profiles:PS50262,Superfamily_domains:SSF81321	ENST00000176183.5:c.810_824delCCGGGGTCCCTGCGGinsA	ENSP00000176183.5:p.Arg271ProfsTer174	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:640058-640073	A	ENSG00000177030	ENST00000527170	Transcript	downstream_gene_variant	-	-	-	-	-	-	4160	-1	DEAF1	HGNC	14677	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:640058-640073	A	-	ENSR00000556882	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1092576-1092618	-	ENSG00000198788	ENST00000361558	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	MUC2	HGNC	-	protein_coding	-	-	-	ENST00000361558.6:c.166+228_166+269delCCAACCACCACTCCCAGCCCTCCAACCACCACTCCCAGCCCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1092576-1092618	-	ENSG00000198788	ENST00000333592	Transcript	upstream_gene_variant	-	-	-	-	-	-	700	1	MUC2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1092576-1092618	-	ENSG00000198788	ENST00000441003	Transcript	inframe_deletion	4423-4464	4396-4437	1466-1479	PTTTPSPPTTTPSP/-	CCAACCACCACTCCCAGCCCTCCAACCACCACTCCCAGCCCT/-	-	-	1	MUC2	HGNC	7512	protein_coding	-	-	Low_complexity_(Seg):Seg,Prints_domain:PR01217,PROSITE_profiles:PS50099,PROSITE_profiles:PS50325	ENST00000441003.2:c.4396_4437delCCAACCACCACTCCCAGCCCTCCAACCACCACTCCCAGCCCT	ENSP00000415183.2:p.Pro1466_Pro1479del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1092576-1092618	-	ENSG00000198788	ENST00000359061	Transcript	inframe_deletion	4399-4440	4399-4440	1467-1480	PTTTPSPPTTTPSP/-	CCAACCACCACTCCCAGCCCTCCAACCACCACTCCCAGCCCT/-	-	-	1	MUC2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Prints_domain:PR01217,PROSITE_profiles:PS50099,PROSITE_profiles:PS50325	ENST00000359061.5:c.4399_4440delCCAACCACCACTCCCAGCCCTCCAACCACCACTCCCAGCCCT	ENSP00000351956.5:p.Pro1467_Pro1480del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1092576-1092618	-	-	ENSR00000557031	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1092601-1092619	-	ENSG00000198788	ENST00000361558	Transcript	intron_variant,feature_truncation	-	-	-	-	-	rs201595190,TMP_ESP_11_1092602_1092619	-	1	MUC2	HGNC	-	protein_coding	-	-	-	ENST00000361558.6:c.166+253_166+270delCCACCACTCCCAGCCCTC	-	-	-	-	-	-	-:0.277213	-:0.296965	-	-	-	-	-	-
.	11:1092601-1092619	-	ENSG00000198788	ENST00000333592	Transcript	upstream_gene_variant	-	-	-	-	-	rs201595190,TMP_ESP_11_1092602_1092619	699	1	MUC2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-:0.277213	-:0.296965	-	-	-	-	-	-
.	11:1092601-1092619	-	ENSG00000198788	ENST00000441003	Transcript	inframe_deletion	4448-4465	4421-4438	1474-1480	TTTPSPP/T	aCCACCACTCCCAGCCCTCca/aca	rs201595190,TMP_ESP_11_1092602_1092619	-	1	MUC2	HGNC	7512	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099,PROSITE_profiles:PS50325	ENST00000441003.2:c.4421_4438delCCACCACTCCCAGCCCTC	ENSP00000415183.2:p.Thr1475_Pro1480del	-	-	-	-	-	-:0.277213	-:0.296965	-	-	-	-	-	-
.	11:1092601-1092619	-	ENSG00000198788	ENST00000359061	Transcript	inframe_deletion	4424-4441	4424-4441	1475-1481	TTTPSPP/T	aCCACCACTCCCAGCCCTCca/aca	rs201595190,TMP_ESP_11_1092602_1092619	-	1	MUC2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099,PROSITE_profiles:PS50325	ENST00000359061.5:c.4424_4441delCCACCACTCCCAGCCCTC	ENSP00000351956.5:p.Thr1476_Pro1481del	-	-	-	-	-	-:0.277213	-:0.296965	-	-	-	-	-	-
.	11:1092601-1092619	-	-	ENSR00000557031	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs201595190,TMP_ESP_11_1092602_1092619	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-:0.277213	-:0.296965	-	-	-	-	-	-
.	11:1092602-1092648	AACG	ENSG00000198788	ENST00000361558	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	MUC2	HGNC	-	protein_coding	-	-	-	ENST00000361558.6:c.166+254_166+299delCACCACTCCCAGCCCTCCAACCACCACTCCCAGCCCTCCAACAACCinsAACG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1092602-1092648	AACG	ENSG00000198788	ENST00000333592	Transcript	upstream_gene_variant	-	-	-	-	-	-	670	1	MUC2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1092602-1092648	AACG	ENSG00000198788	ENST00000441003	Transcript	feature_truncation	4449-4494	4422-4467	1474-1489	TTTPSPPTTTPSPPTT/TT	acCACCACTCCCAGCCCTCCAACCACCACTCCCAGCCCTCCAACAACC/acAACG	-	-	1	MUC2	HGNC	7512	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099,PROSITE_profiles:PS50325	ENST00000441003.2:c.4422_4467delCACCACTCCCAGCCCTCCAACCACCACTCCCAGCCCTCCAACAACCinsAACG	ENSP00000415183.2:p.Thr1476_Thr1489del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1092602-1092648	AACG	ENSG00000198788	ENST00000359061	Transcript	feature_truncation	4425-4470	4425-4470	1475-1490	TTTPSPPTTTPSPPTT/TT	acCACCACTCCCAGCCCTCCAACCACCACTCCCAGCCCTCCAACAACC/acAACG	-	-	1	MUC2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099,PROSITE_profiles:PS50325	ENST00000359061.5:c.4425_4470delCACCACTCCCAGCCCTCCAACCACCACTCCCAGCCCTCCAACAACCinsAACG	ENSP00000351956.5:p.Thr1477_Thr1490del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1092602-1092648	AACG	-	ENSR00000557031	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1092691-1092736	-	ENSG00000198788	ENST00000361558	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	MUC2	HGNC	-	protein_coding	-	-	-	ENST00000361558.6:c.166+343_166+387delCGACTACGCCCATCACTCCACCAGCCAGCACTACCACCCTTCCAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1092691-1092736	-	ENSG00000198788	ENST00000333592	Transcript	upstream_gene_variant	-	-	-	-	-	-	582	1	MUC2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1092691-1092736	-	ENSG00000198788	ENST00000441003	Transcript	inframe_deletion	4538-4582	4511-4555	1504-1519	TTTPITPPASTTTLPP/T	aCGACTACGCCCATCACTCCACCAGCCAGCACTACCACCCTTCCACca/aca	-	-	1	MUC2	HGNC	7512	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099,PROSITE_profiles:PS50325	ENST00000441003.2:c.4511_4555delCGACTACGCCCATCACTCCACCAGCCAGCACTACCACCCTTCCAC	ENSP00000415183.2:p.Thr1505_Pro1519del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1092691-1092736	-	ENSG00000198788	ENST00000359061	Transcript	inframe_deletion	4514-4558	4514-4558	1505-1520	TTTPITPPASTTTLPP/T	aCGACTACGCCCATCACTCCACCAGCCAGCACTACCACCCTTCCACca/aca	-	-	1	MUC2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099,PROSITE_profiles:PS50325	ENST00000359061.5:c.4514_4558delCGACTACGCCCATCACTCCACCAGCCAGCACTACCACCCTTCCAC	ENSP00000351956.5:p.Thr1506_Pro1520del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1092691-1092736	-	-	ENSR00000557031	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1092692-1092723	AACCACCACA	ENSG00000198788	ENST00000361558	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	MUC2	HGNC	-	protein_coding	-	-	-	ENST00000361558.6:c.166+344_166+374delGACTACGCCCATCACTCCACCAGCCAGCACTinsAACCACCACA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1092692-1092723	AACCACCACA	ENSG00000198788	ENST00000333592	Transcript	upstream_gene_variant	-	-	-	-	-	-	595	1	MUC2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1092692-1092723	AACCACCACA	ENSG00000198788	ENST00000441003	Transcript	feature_truncation	4539-4569	4512-4542	1504-1514	TTTPITPPAST/TTTT	acGACTACGCCCATCACTCCACCAGCCAGCACT/acAACCACCACA	-	-	1	MUC2	HGNC	7512	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099,PROSITE_profiles:PS50325	ENST00000441003.2:c.4512_4542delGACTACGCCCATCACTCCACCAGCCAGCACTinsAACCACCACA	ENSP00000415183.2:p.Pro1507_Ser1513del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1092692-1092723	AACCACCACA	ENSG00000198788	ENST00000359061	Transcript	feature_truncation	4515-4545	4515-4545	1505-1515	TTTPITPPAST/TTTT	acGACTACGCCCATCACTCCACCAGCCAGCACT/acAACCACCACA	-	-	1	MUC2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099,PROSITE_profiles:PS50325	ENST00000359061.5:c.4515_4545delGACTACGCCCATCACTCCACCAGCCAGCACTinsAACCACCACA	ENSP00000351956.5:p.Pro1508_Ser1514del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1092692-1092723	AACCACCACA	-	ENSR00000557031	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1092692	T	ENSG00000198788	ENST00000361558	Transcript	intron_variant	-	-	-	-	-	rs199884046	-	1	MUC2	HGNC	-	protein_coding	-	-	-	ENST00000361558.6:c.166+343C>T	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1092692	T	ENSG00000198788	ENST00000333592	Transcript	upstream_gene_variant	-	-	-	-	-	rs199884046	626	1	MUC2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1092692	T	ENSG00000198788	ENST00000441003	Transcript	missense_variant	4538	4511	1504	T/M	aCg/aTg	rs199884046	-	1	MUC2	HGNC	7512	protein_coding	-	unknown(0)	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099,PROSITE_profiles:PS50325	ENST00000441003.2:c.4511C>T	ENSP00000415183.2:p.Thr1504Met	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1092692	T	ENSG00000198788	ENST00000359061	Transcript	missense_variant	4514	4514	1505	T/M	aCg/aTg	rs199884046	-	1	MUC2	HGNC	-	protein_coding	-	unknown(0)	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099,PROSITE_profiles:PS50325	ENST00000359061.5:c.4514C>T	ENSP00000351956.5:p.Thr1505Met	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1092692	T	-	ENSR00000557031	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs199884046	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1651585-1651625	CTGCTGCCAG	ENSG00000185940	ENST00000399676	Transcript	inframe_deletion	554-593	516-555	172-185	SCCQSSCCKPYCCQ/SCCQ	tcCTGCTGCCAGTCCAGCTGCTGTAAGCCTTACTGCTGCCAG/tcCTGCTGCCAG	-	-	1	KRTAP5-5	HGNC	23601	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50311	ENST00000399676.2:c.516_555delCTGCTGCCAGTCCAGCTGCTGTAAGCCTTACTGCTGCCAGinsCTGCTGCCAG	ENSP00000382584.2:p.Ser176_Gln185del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1651585-1651625	CTGCTGCCAA	ENSG00000185940	ENST00000399676	Transcript	feature_truncation	554-593	516-555	172-185	SCCQSSCCKPYCCQ/SCCQ	tcCTGCTGCCAGTCCAGCTGCTGTAAGCCTTACTGCTGCCAG/tcCTGCTGCCAA	-	-	1	KRTAP5-5	HGNC	23601	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50311	ENST00000399676.2:c.516_555delCTGCTGCCAGTCCAGCTGCTGTAAGCCTTACTGCTGCCAGinsCTGCTGCCAA	ENSP00000382584.2:p.Ser176_Gln185del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1651585-1651625	CTGCTGCCAG	-	ENSR00001567595	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1651585-1651625	CTGCTGCCAA	-	ENSR00001567595	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1651585-1651643	CTGCTGCCAGTCCAGCTGCTGTAAGCCC	ENSG00000185940	ENST00000399676	Transcript	inframe_deletion	554-611	516-573	172-191	SCCQSSCCKPYCCQSSCCKP/SCCQSSCCKP	tcCTGCTGCCAGTCCAGCTGCTGTAAGCCTTACTGCTGCCAGTCCAGCTGCTGTAAGCCC/tcCTGCTGCCAGTCCAGCTGCTGTAAGCCC	-	-	1	KRTAP5-5	HGNC	23601	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50311	ENST00000399676.2:c.516_573delCTGCTGCCAGTCCAGCTGCTGTAAGCCTTACTGCTGCCAGTCCAGCTGCTGTAAGCCCinsCTGCTGCCAGTCCAGCTGCTGTAAGCCC	ENSP00000382584.2:p.Tyr182_Pro191del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1651585-1651643	CTGCTGCCAGTCCAGCTGCTGTAAGCCT	ENSG00000185940	ENST00000399676	Transcript	inframe_deletion	554-611	516-573	172-191	SCCQSSCCKPYCCQSSCCKP/SCCQSSCCKP	tcCTGCTGCCAGTCCAGCTGCTGTAAGCCTTACTGCTGCCAGTCCAGCTGCTGTAAGCCC/tcCTGCTGCCAGTCCAGCTGCTGTAAGCCT	-	-	1	KRTAP5-5	HGNC	23601	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50311	ENST00000399676.2:c.516_573delCTGCTGCCAGTCCAGCTGCTGTAAGCCTTACTGCTGCCAGTCCAGCTGCTGTAAGCCCinsCTGCTGCCAGTCCAGCTGCTGTAAGCCT	ENSP00000382584.2:p.Tyr182_Pro191del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1651585-1651643	CTGCTGCCAGTCCAGCTGCTGTAAGCCC	-	ENSR00001567595	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1651585-1651643	CTGCTGCCAGTCCAGCTGCTGTAAGCCT	-	ENSR00001567595	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1651594-1651625	A	ENSG00000185940	ENST00000399676	Transcript	feature_truncation	563-593	525-555	175-185	QSSCCKPYCCQ/Q	caGTCCAGCTGCTGTAAGCCTTACTGCTGCCAG/caA	-	-	1	KRTAP5-5	HGNC	23601	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50311	ENST00000399676.2:c.525_555delGTCCAGCTGCTGTAAGCCTTACTGCTGCCAGinsA	ENSP00000382584.2:p.Ser176_Gln185del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1651594-1651625	A	-	ENSR00001567595	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1651594-1651643	ATCCAGCTGCTGTAAGCCC	ENSG00000185940	ENST00000399676	Transcript	feature_truncation	563-611	525-573	175-191	QSSCCKPYCCQSSCCKP/QSSCCKP	caGTCCAGCTGCTGTAAGCCTTACTGCTGCCAGTCCAGCTGCTGTAAGCCC/caATCCAGCTGCTGTAAGCCC	-	-	1	KRTAP5-5	HGNC	23601	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50311	ENST00000399676.2:c.525_573delGTCCAGCTGCTGTAAGCCTTACTGCTGCCAGTCCAGCTGCTGTAAGCCCinsATCCAGCTGCTGTAAGCCC	ENSP00000382584.2:p.Tyr182_Pro191del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1651594-1651643	GTCCAGCTGCTGTAAGCCT	ENSG00000185940	ENST00000399676	Transcript	inframe_deletion	563-611	525-573	175-191	QSSCCKPYCCQSSCCKP/QSSCCKP	caGTCCAGCTGCTGTAAGCCTTACTGCTGCCAGTCCAGCTGCTGTAAGCCC/caGTCCAGCTGCTGTAAGCCT	-	-	1	KRTAP5-5	HGNC	23601	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50311	ENST00000399676.2:c.525_573delGTCCAGCTGCTGTAAGCCTTACTGCTGCCAGTCCAGCTGCTGTAAGCCCinsGTCCAGCTGCTGTAAGCCT	ENSP00000382584.2:p.Tyr182_Pro191del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1651594-1651643	ATCCAGCTGCTGTAAGCCC	-	ENSR00001567595	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1651594-1651643	GTCCAGCTGCTGTAAGCCT	-	ENSR00001567595	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1905253-1905266	GATG	ENSG00000130592	ENST00000472974	Transcript	splice_donor_variant,non_coding_exon_variant,intron_variant,nc_transcript_variant,feature_truncation	461-?	-	-	-	-	-	-	1	LSP1	HGNC	-	processed_transcript	-	-	-	ENST00000472974.1:n.461_461+12delAGTAAGTTAAGCTinsGATG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1905253-1905266	GATG	ENSG00000130592	ENST00000429923	Transcript	downstream_gene_variant	-	-	-	-	-	-	15	1	LSP1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1905253-1905266	GATG	ENSG00000130592	ENST00000484895	Transcript	upstream_gene_variant	-	-	-	-	-	-	352	1	LSP1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1905253-1905266	GATG	ENSG00000130592	ENST00000446808	Transcript	downstream_gene_variant	-	-	-	-	-	-	27	1	LSP1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1905253-1905266	GATG	ENSG00000130592	ENST00000381775	Transcript	splice_donor_variant,coding_sequence_variant,intron_variant,feature_truncation	1083-?	975-?	325-?	-	-	-	-	1	LSP1	HGNC	-	protein_coding	-	-	-	ENST00000381775.1:c.975_975+12delAGTAAGTTAAGCTinsGATG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1905253-1905266	GATG	ENSG00000130592	ENST00000405957	Transcript	splice_donor_variant,coding_sequence_variant,intron_variant,feature_truncation	852-?	405-?	135-?	-	-	-	-	1	LSP1	HGNC	-	protein_coding	-	-	-	ENST00000405957.2:c.405_405+12delAGTAAGTTAAGCTinsGATG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1905253-1905266	GATG	ENSG00000130592	ENST00000421485	Transcript	downstream_gene_variant	-	-	-	-	-	-	596	1	LSP1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1905253-1905266	GATG	ENSG00000130592	ENST00000432093	Transcript	splice_donor_variant,coding_sequence_variant,intron_variant,feature_truncation	707-?	405-?	135-?	-	-	-	-	1	LSP1	HGNC	-	protein_coding	-	-	-	ENST00000432093.1:c.405_405+12delAGTAAGTTAAGCTinsGATG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1905253-1905266	GATG	ENSG00000130592	ENST00000418975	Transcript	downstream_gene_variant	-	-	-	-	-	-	2472	1	LSP1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1905253-1905266	GATG	ENSG00000130592	ENST00000406638	Transcript	splice_donor_variant,coding_sequence_variant,intron_variant,feature_truncation	1707-?	405-?	135-?	-	-	-	-	1	LSP1	HGNC	-	protein_coding	-	-	-	ENST00000406638.2:c.405_405+12delAGTAAGTTAAGCTinsGATG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1905253-1905266	GATG	ENSG00000130592	ENST00000464670	Transcript	upstream_gene_variant	-	-	-	-	-	-	2696	1	LSP1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1905253-1905266	GATG	ENSG00000130592	ENST00000457279	Transcript	splice_donor_variant,coding_sequence_variant,intron_variant,feature_truncation	626-?	564-?	188-?	-	-	-	-	1	LSP1	HGNC	-	protein_coding	-	-	-	ENST00000457279.1:c.564_564+12delAGTAAGTTAAGCTinsGATG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1905253-1905266	GATG	ENSG00000130592	ENST00000311604	Transcript	splice_donor_variant,coding_sequence_variant,intron_variant,feature_truncation	766-?	591-?	197-?	-	-	-	-	1	LSP1	HGNC	6707	protein_coding	-	-	-	ENST00000311604.3:c.591_591+12delAGTAAGTTAAGCTinsGATG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1905253-1905266	GATG	ENSG00000130592	ENST00000485341	Transcript	splice_donor_variant,non_coding_exon_variant,intron_variant,nc_transcript_variant,feature_truncation	1087-?	-	-	-	-	-	-	1	LSP1	HGNC	-	processed_transcript	-	-	-	ENST00000485341.1:n.1087_1087+12delAGTAAGTTAAGCTinsGATG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1905253-1905266	GATG	ENSG00000130592	ENST00000417766	Transcript	splice_donor_variant,coding_sequence_variant,intron_variant,feature_truncation	626-?	405-?	135-?	-	-	-	-	1	LSP1	HGNC	-	protein_coding	-	-	-	ENST00000417766.1:c.405_405+12delAGTAAGTTAAGCTinsGATG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:1905253-1905266	GATG	ENSG00000130592	ENST00000451814	Transcript	downstream_gene_variant	-	-	-	-	-	-	582	1	LSP1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:5842346-5842356	G	ENSG00000180988	ENST00000317037	Transcript	feature_truncation	804-813	782-791	261-264	FFTH/C	tTTTTCACTCAt/tGt	-	-	1	OR52N2	HGNC	15228	protein_coding	-	-	Transmembrane_helices:Tmhmm,Pfam_domain:PF00001,PROSITE_profiles:PS50262,Superfamily_domains:SSF81321	ENST00000317037.2:c.782_791delTTTTCACTCAinsG	ENSP00000322801.2:p.Phe261_His264delinsCys	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:5842346-5842356	G	ENSG00000132256	ENST00000412903	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	TRIM5	HGNC	-	protein_coding	-	-	-	ENST00000412903.1:c.-62+116275_-62+116284delTGAGTGAAAAinsC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:5842346-5842356	G	ENSG00000132256	ENST00000380027	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	TRIM5	HGNC	-	protein_coding	-	-	-	ENST00000380027.1:c.-441+34626_-441+34635delTGAGTGAAAAinsC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411936	-	ENSG00000166313	ENST00000608704	Transcript	downstream_gene_variant	-	-	-	-	-	-	4419	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411936	-	ENSG00000166311	ENST00000532367	Transcript	upstream_gene_variant	-	-	-	-	-	-	2812	1	SMPD1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411936	-	ENSG00000166313	ENST00000608394	Transcript	downstream_gene_variant	-	-	-	-	-	-	4437	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411936	-	ENSG00000166311	ENST00000527275	Transcript	inframe_deletion	227-232	103-108	35-36	LV/-	CTGGTG/-	-	-	1	SMPD1	HGNC	-	protein_coding	-	-	Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000527275.1:c.103_108delCTGGTG	ENSP00000435350.1:p.Val36_Leu37del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411936	-	ENSG00000166313	ENST00000608435	Transcript	downstream_gene_variant	-	-	-	-	-	-	4419	-1	APBB1	HGNC	-	non_stop_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411936	-	ENSG00000166311	ENST00000533123	Transcript	inframe_deletion,NMD_transcript_variant	199-204	103-108	35-36	LV/-	CTGGTG/-	-	-	1	SMPD1	HGNC	-	nonsense_mediated_decay	-	-	Transmembrane_helices:Tmhmm	ENST00000533123.1:c.103_108delCTGGTG	ENSP00000435950.1:p.Val36_Leu37del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411936	-	ENSG00000166311	ENST00000534405	Transcript	inframe_deletion,NMD_transcript_variant	229-234	103-108	35-36	LV/-	CTGGTG/-	-	-	1	SMPD1	HGNC	-	nonsense_mediated_decay	-	-	Transmembrane_helices:Tmhmm	ENST00000534405.1:c.103_108delCTGGTG	ENSP00000434353.1:p.Val36_Leu37del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411936	-	ENSG00000166311	ENST00000531336	Transcript	upstream_gene_variant	-	-	-	-	-	-	2587	1	SMPD1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411936	-	ENSG00000166313	ENST00000530885	Transcript	downstream_gene_variant	-	-	-	-	-	-	4762	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411936	-	ENSG00000166313	ENST00000609360	Transcript	downstream_gene_variant	-	-	-	-	-	-	4419	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411936	-	ENSG00000166311	ENST00000342245	Transcript	inframe_deletion	271-276	103-108	35-36	LV/-	CTGGTG/-	-	-	1	SMPD1	HGNC	-	protein_coding	-	-	Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000342245.4:c.103_108delCTGGTG	ENSP00000340409.4:p.Val36_Leu37del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411936	-	ENSG00000166313	ENST00000299402	Transcript	downstream_gene_variant	-	-	-	-	-	-	4419	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411936	-	ENSG00000166313	ENST00000389906	Transcript	downstream_gene_variant	-	-	-	-	-	-	4419	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411936	-	ENSG00000166311	ENST00000526280	Transcript	upstream_gene_variant	-	-	-	-	-	-	1171	1	SMPD1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411936	-	ENSG00000166313	ENST00000608645	Transcript	downstream_gene_variant	-	-	-	-	-	-	4598	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411936	-	ENSG00000166313	ENST00000524626	Transcript	downstream_gene_variant	-	-	-	-	-	-	4452	-1	APBB1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411936	-	ENSG00000166313	ENST00000526240	Transcript	downstream_gene_variant	-	-	-	-	-	-	4419	-1	APBB1	HGNC	581	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411936	-	ENSG00000166313	ENST00000609331	Transcript	downstream_gene_variant	-	-	-	-	-	-	4724	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411936	-	ENSG00000166311	ENST00000533196	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	262-267	-	-	-	-	-	-	1	SMPD1	HGNC	-	processed_transcript	-	-	-	ENST00000533196.1:n.262_267delCTGGTG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411936	-	ENSG00000166313	ENST00000311051	Transcript	downstream_gene_variant	-	-	-	-	-	-	4419	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411936	-	ENSG00000166313	ENST00000608655	Transcript	downstream_gene_variant	-	-	-	-	-	-	4419	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411936	-	ENSG00000166313	ENST00000529519	Transcript	downstream_gene_variant	-	-	-	-	-	-	4457	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411936	-	ENSG00000166311	ENST00000531303	Transcript	inframe_deletion,NMD_transcript_variant	120-125	103-108	35-36	LV/-	CTGGTG/-	-	-	1	SMPD1	HGNC	-	nonsense_mediated_decay	-	-	Transmembrane_helices:Tmhmm	ENST00000531303.1:c.103_108delCTGGTG	ENSP00000432625.1:p.Val36_Leu37del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411936	-	ENSG00000166311	ENST00000299397	Transcript	inframe_deletion	277-282	103-108	35-36	LV/-	CTGGTG/-	-	-	1	SMPD1	HGNC	11120	protein_coding	-	-	Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000299397.3:c.103_108delCTGGTG	ENSP00000299397.3:p.Val36_Leu37del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411936	-	ENSG00000166311	ENST00000530395	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	SMPD1	HGNC	-	protein_coding	-	-	-	ENST00000530395.1:c.-96+62_-96+67delCTGGTG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411936	-	ENSG00000166311	ENST00000356761	Transcript	inframe_deletion	277-282	103-108	35-36	LV/-	CTGGTG/-	-	-	1	SMPD1	HGNC	-	protein_coding	-	-	Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000356761.2:c.103_108delCTGGTG	ENSP00000349203.2:p.Val36_Leu37del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411936	-	-	ENSR00000187786	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	-	ENSG00000166313	ENST00000608704	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGCG	ENSG00000166313	ENST00000608704	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCG	ENSG00000166313	ENST00000608704	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGTGCTGGCGCTGGCG	ENSG00000166313	ENST00000608704	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCG	ENSG00000166313	ENST00000608704	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSG00000166313	ENST00000608704	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	-	ENSG00000166311	ENST00000532367	Transcript	upstream_gene_variant	-	-	-	-	-	-	2794	1	SMPD1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGCG	ENSG00000166311	ENST00000532367	Transcript	upstream_gene_variant	-	-	-	-	-	-	2794	1	SMPD1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCG	ENSG00000166311	ENST00000532367	Transcript	upstream_gene_variant	-	-	-	-	-	-	2794	1	SMPD1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGTGCTGGCGCTGGCG	ENSG00000166311	ENST00000532367	Transcript	upstream_gene_variant	-	-	-	-	-	-	2794	1	SMPD1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCG	ENSG00000166311	ENST00000532367	Transcript	upstream_gene_variant	-	-	-	-	-	-	2794	1	SMPD1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSG00000166311	ENST00000532367	Transcript	upstream_gene_variant	-	-	-	-	-	-	2794	1	SMPD1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	-	ENSG00000166313	ENST00000608394	Transcript	downstream_gene_variant	-	-	-	-	-	-	4419	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGCG	ENSG00000166313	ENST00000608394	Transcript	downstream_gene_variant	-	-	-	-	-	-	4419	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCG	ENSG00000166313	ENST00000608394	Transcript	downstream_gene_variant	-	-	-	-	-	-	4419	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGTGCTGGCGCTGGCG	ENSG00000166313	ENST00000608394	Transcript	downstream_gene_variant	-	-	-	-	-	-	4419	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCG	ENSG00000166313	ENST00000608394	Transcript	downstream_gene_variant	-	-	-	-	-	-	4419	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSG00000166313	ENST00000608394	Transcript	downstream_gene_variant	-	-	-	-	-	-	4419	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	-	ENSG00000166311	ENST00000527275	Transcript	inframe_deletion	227-250	103-126	35-42	LVLALALA/-	CTGGTGCTGGCGCTGGCGCTGGCG/-	-	-	1	SMPD1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000527275.1:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCG	ENSP00000435350.1:p.Leu35_Ala42del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGCG	ENSG00000166311	ENST00000527275	Transcript	inframe_deletion	227-250	103-126	35-42	LVLALALA/LALALA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGCGCTGGCGCTGGCG	-	-	1	SMPD1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000527275.1:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCGCTGGCGCTGGCG	ENSP00000435350.1:p.Val36_Leu37del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCG	ENSG00000166311	ENST00000527275	Transcript	inframe_deletion	227-250	103-126	35-42	LVLALALA/LA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGCG	-	-	1	SMPD1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000527275.1:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCG	ENSP00000435350.1:p.Val36_Leu41del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGTGCTGGCGCTGGCG	ENSG00000166311	ENST00000527275	Transcript	inframe_deletion	227-250	103-126	35-42	LVLALALA/LVLALA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGTGCTGGCGCTGGCG	-	-	1	SMPD1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000527275.1:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGTGCTGGCGCTGGCG	ENSP00000435350.1:p.Ala42_Leu43del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCG	ENSG00000166311	ENST00000527275	Transcript	inframe_deletion	227-250	103-126	35-42	LVLALALA/LALA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGCGCTGGCG	-	-	1	SMPD1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000527275.1:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCGCTGGCG	ENSP00000435350.1:p.Val36_Leu39del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSG00000166311	ENST00000527275	Transcript	inframe_insertion	227-250	103-126	35-42	LVLALALA/LALALVLALALA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	-	-	1	SMPD1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000527275.1:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSP00000435350.1:p.Leu35_Val36insAlaLeuAlaLeu	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	-	ENSG00000166313	ENST00000608435	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	non_stop_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGCG	ENSG00000166313	ENST00000608435	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	non_stop_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCG	ENSG00000166313	ENST00000608435	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	non_stop_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGTGCTGGCGCTGGCG	ENSG00000166313	ENST00000608435	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	non_stop_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCG	ENSG00000166313	ENST00000608435	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	non_stop_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSG00000166313	ENST00000608435	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	non_stop_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	-	ENSG00000166311	ENST00000533123	Transcript	inframe_deletion,NMD_transcript_variant	199-222	103-126	35-42	LVLALALA/-	CTGGTGCTGGCGCTGGCGCTGGCG/-	-	-	1	SMPD1	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm	ENST00000533123.1:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCG	ENSP00000435950.1:p.Leu35_Ala42del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGCG	ENSG00000166311	ENST00000533123	Transcript	inframe_deletion,NMD_transcript_variant	199-222	103-126	35-42	LVLALALA/LALALA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGCGCTGGCGCTGGCG	-	-	1	SMPD1	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm	ENST00000533123.1:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCGCTGGCGCTGGCG	ENSP00000435950.1:p.Val36_Leu37del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCG	ENSG00000166311	ENST00000533123	Transcript	inframe_deletion,NMD_transcript_variant	199-222	103-126	35-42	LVLALALA/LA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGCG	-	-	1	SMPD1	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm	ENST00000533123.1:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCG	ENSP00000435950.1:p.Val36_Leu41del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGTGCTGGCGCTGGCG	ENSG00000166311	ENST00000533123	Transcript	inframe_deletion,NMD_transcript_variant	199-222	103-126	35-42	LVLALALA/LVLALA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGTGCTGGCGCTGGCG	-	-	1	SMPD1	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm	ENST00000533123.1:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGTGCTGGCGCTGGCG	ENSP00000435950.1:p.Ala42_Leu43del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCG	ENSG00000166311	ENST00000533123	Transcript	inframe_deletion,NMD_transcript_variant	199-222	103-126	35-42	LVLALALA/LALA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGCGCTGGCG	-	-	1	SMPD1	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm	ENST00000533123.1:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCGCTGGCG	ENSP00000435950.1:p.Val36_Leu39del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSG00000166311	ENST00000533123	Transcript	inframe_insertion,NMD_transcript_variant	199-222	103-126	35-42	LVLALALA/LALALVLALALA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	-	-	1	SMPD1	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm	ENST00000533123.1:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSP00000435950.1:p.Leu35_Val36insAlaLeuAlaLeu	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	-	ENSG00000166311	ENST00000534405	Transcript	inframe_deletion,NMD_transcript_variant	229-252	103-126	35-42	LVLALALA/-	CTGGTGCTGGCGCTGGCGCTGGCG/-	-	-	1	SMPD1	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm	ENST00000534405.1:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCG	ENSP00000434353.1:p.Leu35_Ala42del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGCG	ENSG00000166311	ENST00000534405	Transcript	inframe_deletion,NMD_transcript_variant	229-252	103-126	35-42	LVLALALA/LALALA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGCGCTGGCGCTGGCG	-	-	1	SMPD1	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm	ENST00000534405.1:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCGCTGGCGCTGGCG	ENSP00000434353.1:p.Val36_Leu37del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCG	ENSG00000166311	ENST00000534405	Transcript	inframe_deletion,NMD_transcript_variant	229-252	103-126	35-42	LVLALALA/LA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGCG	-	-	1	SMPD1	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm	ENST00000534405.1:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCG	ENSP00000434353.1:p.Val36_Leu41del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGTGCTGGCGCTGGCG	ENSG00000166311	ENST00000534405	Transcript	inframe_deletion,NMD_transcript_variant	229-252	103-126	35-42	LVLALALA/LVLALA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGTGCTGGCGCTGGCG	-	-	1	SMPD1	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm	ENST00000534405.1:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGTGCTGGCGCTGGCG	ENSP00000434353.1:p.Ala42_Leu43del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCG	ENSG00000166311	ENST00000534405	Transcript	inframe_deletion,NMD_transcript_variant	229-252	103-126	35-42	LVLALALA/LALA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGCGCTGGCG	-	-	1	SMPD1	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm	ENST00000534405.1:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCGCTGGCG	ENSP00000434353.1:p.Val36_Leu39del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSG00000166311	ENST00000534405	Transcript	inframe_insertion,NMD_transcript_variant	229-252	103-126	35-42	LVLALALA/LALALVLALALA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	-	-	1	SMPD1	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm	ENST00000534405.1:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSP00000434353.1:p.Leu35_Val36insAlaLeuAlaLeu	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	-	ENSG00000166311	ENST00000531336	Transcript	upstream_gene_variant	-	-	-	-	-	-	2569	1	SMPD1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGCG	ENSG00000166311	ENST00000531336	Transcript	upstream_gene_variant	-	-	-	-	-	-	2569	1	SMPD1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCG	ENSG00000166311	ENST00000531336	Transcript	upstream_gene_variant	-	-	-	-	-	-	2569	1	SMPD1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGTGCTGGCGCTGGCG	ENSG00000166311	ENST00000531336	Transcript	upstream_gene_variant	-	-	-	-	-	-	2569	1	SMPD1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCG	ENSG00000166311	ENST00000531336	Transcript	upstream_gene_variant	-	-	-	-	-	-	2569	1	SMPD1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSG00000166311	ENST00000531336	Transcript	upstream_gene_variant	-	-	-	-	-	-	2569	1	SMPD1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	-	ENSG00000166313	ENST00000530885	Transcript	downstream_gene_variant	-	-	-	-	-	-	4744	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGCG	ENSG00000166313	ENST00000530885	Transcript	downstream_gene_variant	-	-	-	-	-	-	4744	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCG	ENSG00000166313	ENST00000530885	Transcript	downstream_gene_variant	-	-	-	-	-	-	4744	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGTGCTGGCGCTGGCG	ENSG00000166313	ENST00000530885	Transcript	downstream_gene_variant	-	-	-	-	-	-	4744	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCG	ENSG00000166313	ENST00000530885	Transcript	downstream_gene_variant	-	-	-	-	-	-	4744	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSG00000166313	ENST00000530885	Transcript	downstream_gene_variant	-	-	-	-	-	-	4744	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	-	ENSG00000166313	ENST00000609360	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGCG	ENSG00000166313	ENST00000609360	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCG	ENSG00000166313	ENST00000609360	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGTGCTGGCGCTGGCG	ENSG00000166313	ENST00000609360	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCG	ENSG00000166313	ENST00000609360	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSG00000166313	ENST00000609360	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	-	ENSG00000166311	ENST00000342245	Transcript	inframe_deletion	271-294	103-126	35-42	LVLALALA/-	CTGGTGCTGGCGCTGGCGCTGGCG/-	-	-	1	SMPD1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000342245.4:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCG	ENSP00000340409.4:p.Leu35_Ala42del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGCG	ENSG00000166311	ENST00000342245	Transcript	inframe_deletion	271-294	103-126	35-42	LVLALALA/LALALA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGCGCTGGCGCTGGCG	-	-	1	SMPD1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000342245.4:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCGCTGGCGCTGGCG	ENSP00000340409.4:p.Val36_Leu37del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCG	ENSG00000166311	ENST00000342245	Transcript	inframe_deletion	271-294	103-126	35-42	LVLALALA/LA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGCG	-	-	1	SMPD1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000342245.4:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCG	ENSP00000340409.4:p.Val36_Leu41del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGTGCTGGCGCTGGCG	ENSG00000166311	ENST00000342245	Transcript	inframe_deletion	271-294	103-126	35-42	LVLALALA/LVLALA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGTGCTGGCGCTGGCG	-	-	1	SMPD1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000342245.4:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGTGCTGGCGCTGGCG	ENSP00000340409.4:p.Ala42_Leu43del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCG	ENSG00000166311	ENST00000342245	Transcript	inframe_deletion	271-294	103-126	35-42	LVLALALA/LALA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGCGCTGGCG	-	-	1	SMPD1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000342245.4:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCGCTGGCG	ENSP00000340409.4:p.Val36_Leu39del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSG00000166311	ENST00000342245	Transcript	inframe_insertion	271-294	103-126	35-42	LVLALALA/LALALVLALALA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	-	-	1	SMPD1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000342245.4:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSP00000340409.4:p.Leu35_Val36insAlaLeuAlaLeu	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	-	ENSG00000166313	ENST00000299402	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGCG	ENSG00000166313	ENST00000299402	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCG	ENSG00000166313	ENST00000299402	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGTGCTGGCGCTGGCG	ENSG00000166313	ENST00000299402	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCG	ENSG00000166313	ENST00000299402	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSG00000166313	ENST00000299402	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	-	ENSG00000166313	ENST00000389906	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGCG	ENSG00000166313	ENST00000389906	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCG	ENSG00000166313	ENST00000389906	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGTGCTGGCGCTGGCG	ENSG00000166313	ENST00000389906	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCG	ENSG00000166313	ENST00000389906	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSG00000166313	ENST00000389906	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	-	ENSG00000166311	ENST00000526280	Transcript	upstream_gene_variant	-	-	-	-	-	-	1153	1	SMPD1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGCG	ENSG00000166311	ENST00000526280	Transcript	upstream_gene_variant	-	-	-	-	-	-	1153	1	SMPD1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCG	ENSG00000166311	ENST00000526280	Transcript	upstream_gene_variant	-	-	-	-	-	-	1153	1	SMPD1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGTGCTGGCGCTGGCG	ENSG00000166311	ENST00000526280	Transcript	upstream_gene_variant	-	-	-	-	-	-	1153	1	SMPD1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCG	ENSG00000166311	ENST00000526280	Transcript	upstream_gene_variant	-	-	-	-	-	-	1153	1	SMPD1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSG00000166311	ENST00000526280	Transcript	upstream_gene_variant	-	-	-	-	-	-	1153	1	SMPD1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	-	ENSG00000166313	ENST00000608645	Transcript	downstream_gene_variant	-	-	-	-	-	-	4580	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGCG	ENSG00000166313	ENST00000608645	Transcript	downstream_gene_variant	-	-	-	-	-	-	4580	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCG	ENSG00000166313	ENST00000608645	Transcript	downstream_gene_variant	-	-	-	-	-	-	4580	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGTGCTGGCGCTGGCG	ENSG00000166313	ENST00000608645	Transcript	downstream_gene_variant	-	-	-	-	-	-	4580	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCG	ENSG00000166313	ENST00000608645	Transcript	downstream_gene_variant	-	-	-	-	-	-	4580	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSG00000166313	ENST00000608645	Transcript	downstream_gene_variant	-	-	-	-	-	-	4580	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	-	ENSG00000166313	ENST00000524626	Transcript	downstream_gene_variant	-	-	-	-	-	-	4434	-1	APBB1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGCG	ENSG00000166313	ENST00000524626	Transcript	downstream_gene_variant	-	-	-	-	-	-	4434	-1	APBB1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCG	ENSG00000166313	ENST00000524626	Transcript	downstream_gene_variant	-	-	-	-	-	-	4434	-1	APBB1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGTGCTGGCGCTGGCG	ENSG00000166313	ENST00000524626	Transcript	downstream_gene_variant	-	-	-	-	-	-	4434	-1	APBB1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCG	ENSG00000166313	ENST00000524626	Transcript	downstream_gene_variant	-	-	-	-	-	-	4434	-1	APBB1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSG00000166313	ENST00000524626	Transcript	downstream_gene_variant	-	-	-	-	-	-	4434	-1	APBB1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	-	ENSG00000166313	ENST00000526240	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	581	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGCG	ENSG00000166313	ENST00000526240	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	581	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCG	ENSG00000166313	ENST00000526240	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	581	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGTGCTGGCGCTGGCG	ENSG00000166313	ENST00000526240	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	581	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCG	ENSG00000166313	ENST00000526240	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	581	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSG00000166313	ENST00000526240	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	581	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	-	ENSG00000166313	ENST00000609331	Transcript	downstream_gene_variant	-	-	-	-	-	-	4706	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGCG	ENSG00000166313	ENST00000609331	Transcript	downstream_gene_variant	-	-	-	-	-	-	4706	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCG	ENSG00000166313	ENST00000609331	Transcript	downstream_gene_variant	-	-	-	-	-	-	4706	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGTGCTGGCGCTGGCG	ENSG00000166313	ENST00000609331	Transcript	downstream_gene_variant	-	-	-	-	-	-	4706	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCG	ENSG00000166313	ENST00000609331	Transcript	downstream_gene_variant	-	-	-	-	-	-	4706	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSG00000166313	ENST00000609331	Transcript	downstream_gene_variant	-	-	-	-	-	-	4706	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	-	ENSG00000166311	ENST00000533196	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	262-285	-	-	-	-	-	-	1	SMPD1	HGNC	-	processed_transcript	-	-	-	ENST00000533196.1:n.262_285delCTGGTGCTGGCGCTGGCGCTGGCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGCG	ENSG00000166311	ENST00000533196	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	262-285	-	-	-	-	-	-	1	SMPD1	HGNC	-	processed_transcript	-	-	-	ENST00000533196.1:n.262_285delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCGCTGGCGCTGGCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCG	ENSG00000166311	ENST00000533196	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	262-285	-	-	-	-	-	-	1	SMPD1	HGNC	-	processed_transcript	-	-	-	ENST00000533196.1:n.262_285delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGTGCTGGCGCTGGCG	ENSG00000166311	ENST00000533196	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	262-285	-	-	-	-	-	-	1	SMPD1	HGNC	-	processed_transcript	-	-	-	ENST00000533196.1:n.262_285delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGTGCTGGCGCTGGCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCG	ENSG00000166311	ENST00000533196	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	262-285	-	-	-	-	-	-	1	SMPD1	HGNC	-	processed_transcript	-	-	-	ENST00000533196.1:n.262_285delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCGCTGGCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSG00000166311	ENST00000533196	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	262-285	-	-	-	-	-	-	1	SMPD1	HGNC	-	processed_transcript	-	-	-	ENST00000533196.1:n.262_285delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	-	ENSG00000166313	ENST00000311051	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGCG	ENSG00000166313	ENST00000311051	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCG	ENSG00000166313	ENST00000311051	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGTGCTGGCGCTGGCG	ENSG00000166313	ENST00000311051	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCG	ENSG00000166313	ENST00000311051	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSG00000166313	ENST00000311051	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	-	ENSG00000166313	ENST00000608655	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGCG	ENSG00000166313	ENST00000608655	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCG	ENSG00000166313	ENST00000608655	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGTGCTGGCGCTGGCG	ENSG00000166313	ENST00000608655	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCG	ENSG00000166313	ENST00000608655	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSG00000166313	ENST00000608655	Transcript	downstream_gene_variant	-	-	-	-	-	-	4401	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	-	ENSG00000166313	ENST00000529519	Transcript	downstream_gene_variant	-	-	-	-	-	-	4439	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGCG	ENSG00000166313	ENST00000529519	Transcript	downstream_gene_variant	-	-	-	-	-	-	4439	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCG	ENSG00000166313	ENST00000529519	Transcript	downstream_gene_variant	-	-	-	-	-	-	4439	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGTGCTGGCGCTGGCG	ENSG00000166313	ENST00000529519	Transcript	downstream_gene_variant	-	-	-	-	-	-	4439	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCG	ENSG00000166313	ENST00000529519	Transcript	downstream_gene_variant	-	-	-	-	-	-	4439	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSG00000166313	ENST00000529519	Transcript	downstream_gene_variant	-	-	-	-	-	-	4439	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	-	ENSG00000166311	ENST00000531303	Transcript	inframe_deletion,NMD_transcript_variant	120-143	103-126	35-42	LVLALALA/-	CTGGTGCTGGCGCTGGCGCTGGCG/-	-	-	1	SMPD1	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm	ENST00000531303.1:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCG	ENSP00000432625.1:p.Leu35_Ala42del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGCG	ENSG00000166311	ENST00000531303	Transcript	inframe_deletion,NMD_transcript_variant	120-143	103-126	35-42	LVLALALA/LALALA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGCGCTGGCGCTGGCG	-	-	1	SMPD1	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm	ENST00000531303.1:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCGCTGGCGCTGGCG	ENSP00000432625.1:p.Val36_Leu37del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCG	ENSG00000166311	ENST00000531303	Transcript	inframe_deletion,NMD_transcript_variant	120-143	103-126	35-42	LVLALALA/LA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGCG	-	-	1	SMPD1	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm	ENST00000531303.1:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCG	ENSP00000432625.1:p.Val36_Leu41del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGTGCTGGCGCTGGCG	ENSG00000166311	ENST00000531303	Transcript	inframe_deletion,NMD_transcript_variant	120-143	103-126	35-42	LVLALALA/LVLALA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGTGCTGGCGCTGGCG	-	-	1	SMPD1	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm	ENST00000531303.1:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGTGCTGGCGCTGGCG	ENSP00000432625.1:p.Ala42_Leu43del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCG	ENSG00000166311	ENST00000531303	Transcript	inframe_deletion,NMD_transcript_variant	120-143	103-126	35-42	LVLALALA/LALA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGCGCTGGCG	-	-	1	SMPD1	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm	ENST00000531303.1:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCGCTGGCG	ENSP00000432625.1:p.Val36_Leu39del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSG00000166311	ENST00000531303	Transcript	inframe_insertion,NMD_transcript_variant	120-143	103-126	35-42	LVLALALA/LALALVLALALA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	-	-	1	SMPD1	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm	ENST00000531303.1:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSP00000432625.1:p.Leu35_Val36insAlaLeuAlaLeu	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	-	ENSG00000166311	ENST00000299397	Transcript	inframe_deletion	277-300	103-126	35-42	LVLALALA/-	CTGGTGCTGGCGCTGGCGCTGGCG/-	-	-	1	SMPD1	HGNC	11120	protein_coding	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000299397.3:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCG	ENSP00000299397.3:p.Leu35_Ala42del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGCG	ENSG00000166311	ENST00000299397	Transcript	inframe_deletion	277-300	103-126	35-42	LVLALALA/LALALA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGCGCTGGCGCTGGCG	-	-	1	SMPD1	HGNC	11120	protein_coding	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000299397.3:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCGCTGGCGCTGGCG	ENSP00000299397.3:p.Val36_Leu37del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCG	ENSG00000166311	ENST00000299397	Transcript	inframe_deletion	277-300	103-126	35-42	LVLALALA/LA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGCG	-	-	1	SMPD1	HGNC	11120	protein_coding	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000299397.3:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCG	ENSP00000299397.3:p.Val36_Leu41del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGTGCTGGCGCTGGCG	ENSG00000166311	ENST00000299397	Transcript	inframe_deletion	277-300	103-126	35-42	LVLALALA/LVLALA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGTGCTGGCGCTGGCG	-	-	1	SMPD1	HGNC	11120	protein_coding	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000299397.3:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGTGCTGGCGCTGGCG	ENSP00000299397.3:p.Ala42_Leu43del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCG	ENSG00000166311	ENST00000299397	Transcript	inframe_deletion	277-300	103-126	35-42	LVLALALA/LALA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGCGCTGGCG	-	-	1	SMPD1	HGNC	11120	protein_coding	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000299397.3:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCGCTGGCG	ENSP00000299397.3:p.Val36_Leu39del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSG00000166311	ENST00000299397	Transcript	inframe_insertion	277-300	103-126	35-42	LVLALALA/LALALVLALALA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	-	-	1	SMPD1	HGNC	11120	protein_coding	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000299397.3:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSP00000299397.3:p.Leu35_Val36insAlaLeuAlaLeu	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	-	ENSG00000166311	ENST00000530395	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	SMPD1	HGNC	-	protein_coding	-	-	-	ENST00000530395.1:c.-96+62_-96+85delCTGGTGCTGGCGCTGGCGCTGGCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGCG	ENSG00000166311	ENST00000530395	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	SMPD1	HGNC	-	protein_coding	-	-	-	ENST00000530395.1:c.-96+62_-96+85delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCGCTGGCGCTGGCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCG	ENSG00000166311	ENST00000530395	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	SMPD1	HGNC	-	protein_coding	-	-	-	ENST00000530395.1:c.-96+62_-96+85delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGTGCTGGCGCTGGCG	ENSG00000166311	ENST00000530395	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	SMPD1	HGNC	-	protein_coding	-	-	-	ENST00000530395.1:c.-96+62_-96+85delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGTGCTGGCGCTGGCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCG	ENSG00000166311	ENST00000530395	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	SMPD1	HGNC	-	protein_coding	-	-	-	ENST00000530395.1:c.-96+62_-96+85delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCGCTGGCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSG00000166311	ENST00000530395	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	SMPD1	HGNC	-	protein_coding	-	-	-	ENST00000530395.1:c.-96+62_-96+85delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	-	ENSG00000166311	ENST00000356761	Transcript	inframe_deletion	277-300	103-126	35-42	LVLALALA/-	CTGGTGCTGGCGCTGGCGCTGGCG/-	-	-	1	SMPD1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000356761.2:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCG	ENSP00000349203.2:p.Leu35_Ala42del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGCG	ENSG00000166311	ENST00000356761	Transcript	inframe_deletion	277-300	103-126	35-42	LVLALALA/LALALA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGCGCTGGCGCTGGCG	-	-	1	SMPD1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000356761.2:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCGCTGGCGCTGGCG	ENSP00000349203.2:p.Val36_Leu37del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCG	ENSG00000166311	ENST00000356761	Transcript	inframe_deletion	277-300	103-126	35-42	LVLALALA/LA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGCG	-	-	1	SMPD1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000356761.2:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCG	ENSP00000349203.2:p.Val36_Leu41del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGTGCTGGCGCTGGCG	ENSG00000166311	ENST00000356761	Transcript	inframe_deletion	277-300	103-126	35-42	LVLALALA/LVLALA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGTGCTGGCGCTGGCG	-	-	1	SMPD1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000356761.2:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGTGCTGGCGCTGGCG	ENSP00000349203.2:p.Ala42_Leu43del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCG	ENSG00000166311	ENST00000356761	Transcript	inframe_deletion	277-300	103-126	35-42	LVLALALA/LALA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGCGCTGGCG	-	-	1	SMPD1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000356761.2:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCGCTGGCG	ENSP00000349203.2:p.Val36_Leu39del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSG00000166311	ENST00000356761	Transcript	inframe_insertion	277-300	103-126	35-42	LVLALALA/LALALVLALALA	CTGGTGCTGGCGCTGGCGCTGGCG/CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	-	-	1	SMPD1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000356761.2:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCGinsCTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	ENSP00000349203.2:p.Leu35_Val36insAlaLeuAlaLeu	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	-	-	ENSR00000187786	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGCG	-	ENSR00000187786	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCG	-	ENSR00000187786	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGTGCTGGCGCTGGCG	-	ENSR00000187786	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCG	-	ENSR00000187786	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411954	CTGGCGCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG	-	ENSR00000187786	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411960	-	ENSG00000166313	ENST00000608704	Transcript	downstream_gene_variant	-	-	-	-	-	-	4395	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411960	-	ENSG00000166311	ENST00000532367	Transcript	upstream_gene_variant	-	-	-	-	-	-	2788	1	SMPD1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411960	-	ENSG00000166313	ENST00000608394	Transcript	downstream_gene_variant	-	-	-	-	-	-	4413	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411960	-	ENSG00000166311	ENST00000527275	Transcript	inframe_deletion	227-256	103-132	35-44	LVLALALALA/-	CTGGTGCTGGCGCTGGCGCTGGCGCTGGCG/-	-	-	1	SMPD1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000527275.1:c.103_132delCTGGTGCTGGCGCTGGCGCTGGCGCTGGCG	ENSP00000435350.1:p.Leu35_Ala44del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411960	-	ENSG00000166313	ENST00000608435	Transcript	downstream_gene_variant	-	-	-	-	-	-	4395	-1	APBB1	HGNC	-	non_stop_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411960	-	ENSG00000166311	ENST00000533123	Transcript	inframe_deletion,NMD_transcript_variant	199-228	103-132	35-44	LVLALALALA/-	CTGGTGCTGGCGCTGGCGCTGGCGCTGGCG/-	-	-	1	SMPD1	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm	ENST00000533123.1:c.103_132delCTGGTGCTGGCGCTGGCGCTGGCGCTGGCG	ENSP00000435950.1:p.Leu35_Ala44del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411960	-	ENSG00000166311	ENST00000534405	Transcript	inframe_deletion,NMD_transcript_variant	229-258	103-132	35-44	LVLALALALA/-	CTGGTGCTGGCGCTGGCGCTGGCGCTGGCG/-	-	-	1	SMPD1	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm	ENST00000534405.1:c.103_132delCTGGTGCTGGCGCTGGCGCTGGCGCTGGCG	ENSP00000434353.1:p.Leu35_Ala44del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411960	-	ENSG00000166311	ENST00000531336	Transcript	upstream_gene_variant	-	-	-	-	-	-	2563	1	SMPD1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411960	-	ENSG00000166313	ENST00000530885	Transcript	downstream_gene_variant	-	-	-	-	-	-	4738	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411960	-	ENSG00000166313	ENST00000609360	Transcript	downstream_gene_variant	-	-	-	-	-	-	4395	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411960	-	ENSG00000166311	ENST00000342245	Transcript	inframe_deletion	271-300	103-132	35-44	LVLALALALA/-	CTGGTGCTGGCGCTGGCGCTGGCGCTGGCG/-	-	-	1	SMPD1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000342245.4:c.103_132delCTGGTGCTGGCGCTGGCGCTGGCGCTGGCG	ENSP00000340409.4:p.Leu35_Ala44del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411960	-	ENSG00000166313	ENST00000299402	Transcript	downstream_gene_variant	-	-	-	-	-	-	4395	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411960	-	ENSG00000166313	ENST00000389906	Transcript	downstream_gene_variant	-	-	-	-	-	-	4395	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411960	-	ENSG00000166311	ENST00000526280	Transcript	upstream_gene_variant	-	-	-	-	-	-	1147	1	SMPD1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411960	-	ENSG00000166313	ENST00000608645	Transcript	downstream_gene_variant	-	-	-	-	-	-	4574	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411960	-	ENSG00000166313	ENST00000524626	Transcript	downstream_gene_variant	-	-	-	-	-	-	4428	-1	APBB1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411960	-	ENSG00000166313	ENST00000526240	Transcript	downstream_gene_variant	-	-	-	-	-	-	4395	-1	APBB1	HGNC	581	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411960	-	ENSG00000166313	ENST00000609331	Transcript	downstream_gene_variant	-	-	-	-	-	-	4700	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411960	-	ENSG00000166311	ENST00000533196	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	262-291	-	-	-	-	-	-	1	SMPD1	HGNC	-	processed_transcript	-	-	-	ENST00000533196.1:n.262_291delCTGGTGCTGGCGCTGGCGCTGGCGCTGGCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411960	-	ENSG00000166313	ENST00000311051	Transcript	downstream_gene_variant	-	-	-	-	-	-	4395	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411960	-	ENSG00000166313	ENST00000608655	Transcript	downstream_gene_variant	-	-	-	-	-	-	4395	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411960	-	ENSG00000166313	ENST00000529519	Transcript	downstream_gene_variant	-	-	-	-	-	-	4433	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411960	-	ENSG00000166311	ENST00000531303	Transcript	inframe_deletion,NMD_transcript_variant	120-149	103-132	35-44	LVLALALALA/-	CTGGTGCTGGCGCTGGCGCTGGCGCTGGCG/-	-	-	1	SMPD1	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm	ENST00000531303.1:c.103_132delCTGGTGCTGGCGCTGGCGCTGGCGCTGGCG	ENSP00000432625.1:p.Leu35_Ala44del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411960	-	ENSG00000166311	ENST00000299397	Transcript	inframe_deletion	277-306	103-132	35-44	LVLALALALA/-	CTGGTGCTGGCGCTGGCGCTGGCGCTGGCG/-	-	-	1	SMPD1	HGNC	11120	protein_coding	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000299397.3:c.103_132delCTGGTGCTGGCGCTGGCGCTGGCGCTGGCG	ENSP00000299397.3:p.Leu35_Ala44del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411960	-	ENSG00000166311	ENST00000530395	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	SMPD1	HGNC	-	protein_coding	-	-	-	ENST00000530395.1:c.-96+62_-96+91delCTGGTGCTGGCGCTGGCGCTGGCGCTGGCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411960	-	ENSG00000166311	ENST00000356761	Transcript	inframe_deletion	277-306	103-132	35-44	LVLALALALA/-	CTGGTGCTGGCGCTGGCGCTGGCGCTGGCG/-	-	-	1	SMPD1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000356761.2:c.103_132delCTGGTGCTGGCGCTGGCGCTGGCGCTGGCG	ENSP00000349203.2:p.Leu35_Ala44del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411930-6411960	-	-	ENSR00000187786	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6411934-6411935	CGCTGGCGCTGGC	ENSG00000166313	ENST00000608704	Transcript	downstream_gene_variant	-	-	-	-	-	COSM1561695,COSM1561696,rs1050228	4420	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	T:0.4114	C:0.22	C:0.62	C:0.81	C:0.64	C:0.240512	C:0.564915	-	1,1,0	-	-	-	-
.	11:6411934-6411935	CGCTGGCGCTGGC	ENSG00000166311	ENST00000532367	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1561695,COSM1561696,rs1050228	2813	1	SMPD1	HGNC	-	retained_intron	-	-	-	-	-	T:0.4114	C:0.22	C:0.62	C:0.81	C:0.64	C:0.240512	C:0.564915	-	1,1,0	-	-	-	-
.	11:6411934-6411935	CGCTGGCGCTGGC	ENSG00000166313	ENST00000608394	Transcript	downstream_gene_variant	-	-	-	-	-	COSM1561695,COSM1561696,rs1050228	4438	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	T:0.4114	C:0.22	C:0.62	C:0.81	C:0.64	C:0.240512	C:0.564915	-	1,1,0	-	-	-	-
.	11:6411934-6411935	CGCTGGCGCTGGC	ENSG00000166311	ENST00000527275	Transcript	inframe_insertion	231	107	36	V/ALALA	gTg/gCGCTGGCGCTGGCg	COSM1561695,COSM1561696,rs1050228	-	1	SMPD1	HGNC	-	protein_coding	-	-	Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000527275.1:c.107delTinsCGCTGGCGCTGGC	ENSP00000435350.1:p.Val36delinsAlaLeuAlaLeuAla	T:0.4114	C:0.22	C:0.62	C:0.81	C:0.64	C:0.240512	C:0.564915	-	1,1,0	-	-	-	-
.	11:6411934-6411935	CGCTGGCGCTGGC	ENSG00000166313	ENST00000608435	Transcript	downstream_gene_variant	-	-	-	-	-	COSM1561695,COSM1561696,rs1050228	4420	-1	APBB1	HGNC	-	non_stop_decay	-	-	-	-	-	T:0.4114	C:0.22	C:0.62	C:0.81	C:0.64	C:0.240512	C:0.564915	-	1,1,0	-	-	-	-
.	11:6411934-6411935	CGCTGGCGCTGGC	ENSG00000166311	ENST00000533123	Transcript	inframe_insertion,NMD_transcript_variant	203	107	36	V/ALALA	gTg/gCGCTGGCGCTGGCg	COSM1561695,COSM1561696,rs1050228	-	1	SMPD1	HGNC	-	nonsense_mediated_decay	-	-	Transmembrane_helices:Tmhmm	ENST00000533123.1:c.107delTinsCGCTGGCGCTGGC	ENSP00000435950.1:p.Val36delinsAlaLeuAlaLeuAla	T:0.4114	C:0.22	C:0.62	C:0.81	C:0.64	C:0.240512	C:0.564915	-	1,1,0	-	-	-	-
.	11:6411934-6411935	CGCTGGCGCTGGC	ENSG00000166311	ENST00000534405	Transcript	inframe_insertion,NMD_transcript_variant	233	107	36	V/ALALA	gTg/gCGCTGGCGCTGGCg	COSM1561695,COSM1561696,rs1050228	-	1	SMPD1	HGNC	-	nonsense_mediated_decay	-	-	Transmembrane_helices:Tmhmm	ENST00000534405.1:c.107delTinsCGCTGGCGCTGGC	ENSP00000434353.1:p.Val36delinsAlaLeuAlaLeuAla	T:0.4114	C:0.22	C:0.62	C:0.81	C:0.64	C:0.240512	C:0.564915	-	1,1,0	-	-	-	-
.	11:6411934-6411935	CGCTGGCGCTGGC	ENSG00000166311	ENST00000531336	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1561695,COSM1561696,rs1050228	2588	1	SMPD1	HGNC	-	retained_intron	-	-	-	-	-	T:0.4114	C:0.22	C:0.62	C:0.81	C:0.64	C:0.240512	C:0.564915	-	1,1,0	-	-	-	-
.	11:6411934-6411935	CGCTGGCGCTGGC	ENSG00000166313	ENST00000530885	Transcript	downstream_gene_variant	-	-	-	-	-	COSM1561695,COSM1561696,rs1050228	4763	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	T:0.4114	C:0.22	C:0.62	C:0.81	C:0.64	C:0.240512	C:0.564915	-	1,1,0	-	-	-	-
.	11:6411934-6411935	CGCTGGCGCTGGC	ENSG00000166313	ENST00000609360	Transcript	downstream_gene_variant	-	-	-	-	-	COSM1561695,COSM1561696,rs1050228	4420	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	T:0.4114	C:0.22	C:0.62	C:0.81	C:0.64	C:0.240512	C:0.564915	-	1,1,0	-	-	-	-
.	11:6411934-6411935	CGCTGGCGCTGGC	ENSG00000166311	ENST00000342245	Transcript	inframe_insertion	275	107	36	V/ALALA	gTg/gCGCTGGCGCTGGCg	COSM1561695,COSM1561696,rs1050228	-	1	SMPD1	HGNC	-	protein_coding	-	-	Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000342245.4:c.107delTinsCGCTGGCGCTGGC	ENSP00000340409.4:p.Val36delinsAlaLeuAlaLeuAla	T:0.4114	C:0.22	C:0.62	C:0.81	C:0.64	C:0.240512	C:0.564915	-	1,1,0	-	-	-	-
.	11:6411934-6411935	CGCTGGCGCTGGC	ENSG00000166313	ENST00000299402	Transcript	downstream_gene_variant	-	-	-	-	-	COSM1561695,COSM1561696,rs1050228	4420	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	T:0.4114	C:0.22	C:0.62	C:0.81	C:0.64	C:0.240512	C:0.564915	-	1,1,0	-	-	-	-
.	11:6411934-6411935	CGCTGGCGCTGGC	ENSG00000166313	ENST00000389906	Transcript	downstream_gene_variant	-	-	-	-	-	COSM1561695,COSM1561696,rs1050228	4420	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	T:0.4114	C:0.22	C:0.62	C:0.81	C:0.64	C:0.240512	C:0.564915	-	1,1,0	-	-	-	-
.	11:6411934-6411935	CGCTGGCGCTGGC	ENSG00000166311	ENST00000526280	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1561695,COSM1561696,rs1050228	1172	1	SMPD1	HGNC	-	protein_coding	-	-	-	-	-	T:0.4114	C:0.22	C:0.62	C:0.81	C:0.64	C:0.240512	C:0.564915	-	1,1,0	-	-	-	-
.	11:6411934-6411935	CGCTGGCGCTGGC	ENSG00000166313	ENST00000608645	Transcript	downstream_gene_variant	-	-	-	-	-	COSM1561695,COSM1561696,rs1050228	4599	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	T:0.4114	C:0.22	C:0.62	C:0.81	C:0.64	C:0.240512	C:0.564915	-	1,1,0	-	-	-	-
.	11:6411934-6411935	CGCTGGCGCTGGC	ENSG00000166313	ENST00000524626	Transcript	downstream_gene_variant	-	-	-	-	-	COSM1561695,COSM1561696,rs1050228	4453	-1	APBB1	HGNC	-	retained_intron	-	-	-	-	-	T:0.4114	C:0.22	C:0.62	C:0.81	C:0.64	C:0.240512	C:0.564915	-	1,1,0	-	-	-	-
.	11:6411934-6411935	CGCTGGCGCTGGC	ENSG00000166313	ENST00000526240	Transcript	downstream_gene_variant	-	-	-	-	-	COSM1561695,COSM1561696,rs1050228	4420	-1	APBB1	HGNC	581	processed_transcript	-	-	-	-	-	T:0.4114	C:0.22	C:0.62	C:0.81	C:0.64	C:0.240512	C:0.564915	-	1,1,0	-	-	-	-
.	11:6411934-6411935	CGCTGGCGCTGGC	ENSG00000166313	ENST00000609331	Transcript	downstream_gene_variant	-	-	-	-	-	COSM1561695,COSM1561696,rs1050228	4725	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	T:0.4114	C:0.22	C:0.62	C:0.81	C:0.64	C:0.240512	C:0.564915	-	1,1,0	-	-	-	-
.	11:6411934-6411935	CGCTGGCGCTGGC	ENSG00000166311	ENST00000533196	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	266	-	-	-	-	COSM1561695,COSM1561696,rs1050228	-	1	SMPD1	HGNC	-	processed_transcript	-	-	-	ENST00000533196.1:n.266delTinsCGCTGGCGCTGGC	-	T:0.4114	C:0.22	C:0.62	C:0.81	C:0.64	C:0.240512	C:0.564915	-	1,1,0	-	-	-	-
.	11:6411934-6411935	CGCTGGCGCTGGC	ENSG00000166313	ENST00000311051	Transcript	downstream_gene_variant	-	-	-	-	-	COSM1561695,COSM1561696,rs1050228	4420	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	T:0.4114	C:0.22	C:0.62	C:0.81	C:0.64	C:0.240512	C:0.564915	-	1,1,0	-	-	-	-
.	11:6411934-6411935	CGCTGGCGCTGGC	ENSG00000166313	ENST00000608655	Transcript	downstream_gene_variant	-	-	-	-	-	COSM1561695,COSM1561696,rs1050228	4420	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	T:0.4114	C:0.22	C:0.62	C:0.81	C:0.64	C:0.240512	C:0.564915	-	1,1,0	-	-	-	-
.	11:6411934-6411935	CGCTGGCGCTGGC	ENSG00000166313	ENST00000529519	Transcript	downstream_gene_variant	-	-	-	-	-	COSM1561695,COSM1561696,rs1050228	4458	-1	APBB1	HGNC	-	protein_coding	-	-	-	-	-	T:0.4114	C:0.22	C:0.62	C:0.81	C:0.64	C:0.240512	C:0.564915	-	1,1,0	-	-	-	-
.	11:6411934-6411935	CGCTGGCGCTGGC	ENSG00000166311	ENST00000531303	Transcript	inframe_insertion,NMD_transcript_variant	124	107	36	V/ALALA	gTg/gCGCTGGCGCTGGCg	COSM1561695,COSM1561696,rs1050228	-	1	SMPD1	HGNC	-	nonsense_mediated_decay	-	-	Transmembrane_helices:Tmhmm	ENST00000531303.1:c.107delTinsCGCTGGCGCTGGC	ENSP00000432625.1:p.Val36delinsAlaLeuAlaLeuAla	T:0.4114	C:0.22	C:0.62	C:0.81	C:0.64	C:0.240512	C:0.564915	-	1,1,0	-	-	-	-
.	11:6411934-6411935	CGCTGGCGCTGGC	ENSG00000166311	ENST00000299397	Transcript	inframe_insertion	281	107	36	V/ALALA	gTg/gCGCTGGCGCTGGCg	COSM1561695,COSM1561696,rs1050228	-	1	SMPD1	HGNC	11120	protein_coding	-	-	Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000299397.3:c.107delTinsCGCTGGCGCTGGC	ENSP00000299397.3:p.Val36delinsAlaLeuAlaLeuAla	T:0.4114	C:0.22	C:0.62	C:0.81	C:0.64	C:0.240512	C:0.564915	-	1,1,0	-	-	-	-
.	11:6411934-6411935	CGCTGGCGCTGGC	ENSG00000166311	ENST00000530395	Transcript	intron_variant,feature_elongation	-	-	-	-	-	COSM1561695,COSM1561696,rs1050228	-	1	SMPD1	HGNC	-	protein_coding	-	-	-	ENST00000530395.1:c.-96+66delTinsCGCTGGCGCTGGC	-	T:0.4114	C:0.22	C:0.62	C:0.81	C:0.64	C:0.240512	C:0.564915	-	1,1,0	-	-	-	-
.	11:6411934-6411935	CGCTGGCGCTGGC	ENSG00000166311	ENST00000356761	Transcript	inframe_insertion	281	107	36	V/ALALA	gTg/gCGCTGGCGCTGGCg	COSM1561695,COSM1561696,rs1050228	-	1	SMPD1	HGNC	-	protein_coding	-	-	Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF000948	ENST00000356761.2:c.107delTinsCGCTGGCGCTGGC	ENSP00000349203.2:p.Val36delinsAlaLeuAlaLeuAla	T:0.4114	C:0.22	C:0.62	C:0.81	C:0.64	C:0.240512	C:0.564915	-	1,1,0	-	-	-	-
.	11:6411934-6411935	CGCTGGCGCTGGC	-	ENSR00000187786	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	COSM1561695,COSM1561696,rs1050228	-	-	-	-	-	-	-	-	-	-	-	T:0.4114	C:0.22	C:0.62	C:0.81	C:0.64	C:0.240512	C:0.564915	-	1,1,0	-	-	-	-
.	11:6567906-6567907	ATGCCCTACTGCA	ENSG00000179532	ENST00000533649	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	635	-	-	-	-	COSM1356045,COSM1356046,rs200959174	-	1	DNHD1	HGNC	-	retained_intron	-	-	-	ENST00000533649.1:n.635delGinsATGCCCTACTGCA	-	-	-	-	-	-	-	-	-	1,1,0	-	-	-	-
.	11:6567906-6567907	ATGCCCTACTGCA	ENSG00000179532	ENST00000527990	Transcript	inframe_insertion	5738	5738	1913	R/HALLH	cGc/cATGCCCTACTGCAc	COSM1356045,COSM1356046,rs200959174	-	1	DNHD1	HGNC	-	protein_coding	-	-	-	ENST00000527990.2:c.5738delGinsATGCCCTACTGCA	ENSP00000436180.2:p.Arg1913delinsHisAlaLeuLeuHis	-	-	-	-	-	-	-	-	1,1,0	-	-	-	-
.	11:6567906-6567907	ATGCCCTACTGCA	ENSG00000179532	ENST00000254579	Transcript	inframe_insertion	6302	5738	1913	R/HALLH	cGc/cATGCCCTACTGCAc	COSM1356045,COSM1356046,rs200959174	-	1	DNHD1	HGNC	-	protein_coding	-	-	-	ENST00000254579.6:c.5738delGinsATGCCCTACTGCA	ENSP00000254579.6:p.Arg1913delinsHisAlaLeuLeuHis	-	-	-	-	-	-	-	-	1,1,0	-	-	-	-
.	11:6567906-6567907	ATGCCCTACTGCA	ENSG00000179532	ENST00000534210	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	COSM1356045,COSM1356046,rs200959174	-	1	DNHD1	HGNC	-	retained_intron	-	-	-	ENST00000534210.2:n.628+7867delGinsATGCCCTACTGCA	-	-	-	-	-	-	-	-	-	1,1,0	-	-	-	-
.	11:6567906-6567907	ATGCCCTACTGCA	ENSG00000179532	ENST00000532027	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	2961	-	-	-	-	COSM1356045,COSM1356046,rs200959174	-	1	DNHD1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000532027.1:c.*2484delGinsATGCCCTACTGCA	-	-	-	-	-	-	-	-	-	1,1,0	-	-	-	-
.	11:6567906	G	ENSG00000179532	ENST00000533649	Transcript	non_coding_exon_variant,nc_transcript_variant	634	-	-	-	-	-	-	1	DNHD1	HGNC	-	retained_intron	-	-	-	ENST00000533649.1:n.634C>G	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6567906	G	ENSG00000179532	ENST00000527990	Transcript	missense_variant	5737	5737	1913	R/G	Cgc/Ggc	-	-	1	DNHD1	HGNC	-	protein_coding	deleterious(0.01)	benign(0.235)	-	ENST00000527990.2:c.5737C>G	ENSP00000436180.2:p.Arg1913Gly	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6567906	G	ENSG00000179532	ENST00000254579	Transcript	missense_variant	6301	5737	1913	R/G	Cgc/Ggc	-	-	1	DNHD1	HGNC	-	protein_coding	deleterious(0.01)	benign(0.235)	-	ENST00000254579.6:c.5737C>G	ENSP00000254579.6:p.Arg1913Gly	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6567906	G	ENSG00000179532	ENST00000534210	Transcript	intron_variant,nc_transcript_variant	-	-	-	-	-	-	-	1	DNHD1	HGNC	-	retained_intron	-	-	-	ENST00000534210.2:n.628+7866C>G	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:6567906	G	ENSG00000179532	ENST00000532027	Transcript	3_prime_UTR_variant,NMD_transcript_variant	2960	-	-	-	-	-	-	1	DNHD1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000532027.1:c.*2483C>G	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000255159	ENST00000532930	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	RP11-318C2.1	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000532930.1:n.44+7367_44+7368delCTinsACACACACACACACACACCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000530438	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ST5	HGNC	-	protein_coding	-	-	-	ENST00000530438.1:c.-25-25464_-25-25463delAGinsGGGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000526828	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ST5	HGNC	-	protein_coding	-	-	-	ENST00000526828.1:c.-25-25464_-25-25463delAGinsGGGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000357665	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ST5	HGNC	-	protein_coding	-	-	-	ENST00000357665.1:c.-25-25464_-25-25463delAGinsGGGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000530938	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ST5	HGNC	-	protein_coding	-	-	-	ENST00000530938.1:c.-25-25464_-25-25463delAGinsGGGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000526241	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ST5	HGNC	-	protein_coding	-	-	-	ENST00000526241.1:c.-25-25464_-25-25463delAGinsGGGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000534127	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ST5	HGNC	-	protein_coding	-	-	-	ENST00000534127.1:c.-25-25464_-25-25463delAGinsGGGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000533471	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ST5	HGNC	-	protein_coding	-	-	-	ENST00000533471.1:c.-25-25464_-25-25463delAGinsGGGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000531578	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ST5	HGNC	-	protein_coding	-	-	-	ENST00000531578.1:c.-25-25464_-25-25463delAGinsGGGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000527516	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ST5	HGNC	-	protein_coding	-	-	-	ENST00000527516.1:c.-25-25464_-25-25463delAGinsGGGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000533016	Transcript	splice_region_variant,intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ST5	HGNC	-	protein_coding	-	-	-	ENST00000533016.1:c.35+3_35+4delAGinsGGGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000526057	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ST5	HGNC	-	protein_coding	-	-	-	ENST00000526057.1:c.-245+35058_-245+35059delAGinsGGGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000524757	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ST5	HGNC	-	protein_coding	-	-	-	ENST00000524757.1:c.-25-25464_-25-25463delAGinsGGGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000534248	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ST5	HGNC	-	protein_coding	-	-	-	ENST00000534248.1:c.-25-25464_-25-25463delAGinsGGGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000530580	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ST5	HGNC	-	protein_coding	-	-	-	ENST00000530580.1:c.-26+18498_-26+18499delAGinsGGGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000527392	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ST5	HGNC	-	protein_coding	-	-	-	ENST00000527392.1:c.-25-25464_-25-25463delAGinsGGGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000531093	Transcript	upstream_gene_variant	-	-	-	-	-	-	4269	-1	ST5	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000532651	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	ST5	HGNC	-	processed_transcript	-	-	-	ENST00000532651.1:n.346+35058_346+35059delAGinsGGGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000527347	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ST5	HGNC	-	protein_coding	-	-	-	ENST00000527347.1:c.-25-25464_-25-25463delAGinsGGGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000529940	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	ST5	HGNC	-	processed_transcript	-	-	-	ENST00000529940.1:n.133+35058_133+35059delAGinsGGGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000530959	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ST5	HGNC	-	protein_coding	-	-	-	ENST00000530959.1:c.-25-25464_-25-25463delAGinsGGGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000528196	Transcript	upstream_gene_variant	-	-	-	-	-	-	1943	-1	ST5	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000534665	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ST5	HGNC	-	protein_coding	-	-	-	ENST00000534665.1:c.-25-25464_-25-25463delAGinsGGGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000526757	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ST5	HGNC	11350	protein_coding	-	-	-	ENST00000526757.1:c.-25-25464_-25-25463delAGinsGGGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000533681	Transcript	upstream_gene_variant	-	-	-	-	-	-	1887	-1	ST5	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000525169	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ST5	HGNC	-	protein_coding	-	-	-	ENST00000525169.1:c.-25-25464_-25-25463delAGinsGGGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000534783	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	ST5	HGNC	-	processed_transcript	-	-	-	ENST00000534783.1:n.231+34328_231+34329delAGinsGGGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000533425	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	ST5	HGNC	-	processed_transcript	-	-	-	ENST00000533425.1:n.170-25464_170-25463delAGinsGGGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000526155	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ST5	HGNC	-	protein_coding	-	-	-	ENST00000526155.1:c.-25-25464_-25-25463delAGinsGGGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000528523	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ST5	HGNC	-	protein_coding	-	-	-	ENST00000528523.1:c.-25-25464_-25-25463delAGinsGGGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000526126	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ST5	HGNC	-	protein_coding	-	-	-	ENST00000526126.1:c.-25-25464_-25-25463delAGinsGGGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000528527	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ST5	HGNC	-	protein_coding	-	-	-	ENST00000528527.1:c.-245+34328_-245+34329delAGinsGGGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000527473	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ST5	HGNC	-	protein_coding	-	-	-	ENST00000527473.1:c.-25-25464_-25-25463delAGinsGGGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000533225	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ST5	HGNC	-	protein_coding	-	-	-	ENST00000533225.1:c.-25-25464_-25-25463delAGinsGGGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000313726	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ST5	HGNC	-	protein_coding	-	-	-	ENST00000313726.6:c.-25-25464_-25-25463delAGinsGGGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:8797734-8797736	ACACACACACACACACACCC	ENSG00000166444	ENST00000527510	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ST5	HGNC	-	protein_coding	-	-	-	ENST00000527510.1:c.-25-25464_-25-25463delAGinsGGGTGTGTGTGTGTGTGTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:59244998-59245006	AAACCCACCAAAGTCT	ENSG00000254466	ENST00000530162	Transcript	frameshift_variant,feature_elongation	154-161	97-104	33-35	-	-	-	-	1	OR4D10	HGNC	15173	protein_coding	-	-	Low_complexity_(Seg):Seg,Transmembrane_helices:Tmhmm,Prints_domain:PR00237,Superfamily_domains:SSF81321	ENST00000530162.1:c.97_104delTTGGTGTAinsAAACCCACCAAAGTCT	ENSP00000436424.1:p.Leu33LysfsTer7	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:65029761-65029764	GCCTA	ENSG00000014138	ENST00000541089	Transcript	5_prime_UTR_variant,feature_elongation	329-332	-	-	-	-	-	-	1	POLA2	HGNC	-	protein_coding	-	-	-	ENST00000541089.1:c.-502_-499delACCAinsGCCTA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:65029761-65029764	GCCTA	ENSG00000014138	ENST00000527850	Transcript	coding_sequence_variant,5_prime_UTR_variant,NMD_transcript_variant,feature_elongation	371-374	?-1	?-1	-	-	-	-	1	POLA2	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000527850.1:c.-3_1delACCAinsGCCTA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:65029761-65029764	GCCTA	ENSG00000014138	ENST00000532469	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	359-362	-	-	-	-	-	-	1	POLA2	HGNC	-	retained_intron	-	-	-	ENST00000532469.1:n.359_362delACCAinsGCCTA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:65029761-65029764	GCCTA	ENSG00000014138	ENST00000532391	Transcript	upstream_gene_variant	-	-	-	-	-	-	4188	1	POLA2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:65029761-65029764	GCCTA	ENSG00000014138	ENST00000265465	Transcript	coding_sequence_variant,5_prime_UTR_variant,feature_elongation	529-532	?-1	?-1	-	-	-	-	1	POLA2	HGNC	30073	protein_coding	-	-	-	ENST00000265465.3:c.-3_1delACCAinsGCCTA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:65029761-65029764	GCCTA	-	ENSR00000563777	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:68671276-68671280	GTGGCCGCCGCCATCTTC	ENSG00000197345	ENST00000450904	Transcript	upstream_gene_variant	-	-	-	-	-	-	23	-1	MRPL21	HGNC	14479	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:68671276-68671280	GTGGCCGCCGCCATCTTC	ENSG00000197345	ENST00000541265	Transcript	coding_sequence_variant,5_prime_UTR_variant,NMD_transcript_variant,feature_elongation	21-24	?-2	?-1	-	-	-	-	-1	MRPL21	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000541265.1:c.-2_2delCCATinsGAAGATGGCGGCGGCCAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:68671276-68671280	GTGGCCGCCGCCATCTTC	ENSG00000132740	ENST00000255078	Transcript	upstream_gene_variant	-	-	-	-	-	-	30	1	IGHMBP2	HGNC	5542	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:68671276-68671280	GTGGCCGCCGCCATCTTC	ENSG00000197345	ENST00000544567	Transcript	coding_sequence_variant,5_prime_UTR_variant,NMD_transcript_variant,feature_elongation	3-6	?-2	?-1	-	-	-	-	-1	MRPL21	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000544567.1:c.-2_2delCCATinsGAAGATGGCGGCGGCCAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:68671276-68671280	GTGGCCGCCGCCATCTTC	ENSG00000132740	ENST00000545146	Transcript	upstream_gene_variant	-	-	-	-	-	-	114	1	IGHMBP2	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:68671276-68671280	GTGGCCGCCGCCATCTTC	ENSG00000132740	ENST00000544541	Transcript	upstream_gene_variant	-	-	-	-	-	-	79	1	IGHMBP2	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:68671276-68671280	GTGGCCGCCGCCATCTTC	ENSG00000132740	ENST00000539224	Transcript	upstream_gene_variant	-	-	-	-	-	-	85	1	IGHMBP2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:68671276-68671280	GTGGCCGCCGCCATCTTC	ENSG00000197345	ENST00000565125	Transcript	coding_sequence_variant,5_prime_UTR_variant,NMD_transcript_variant,feature_elongation	24-27	?-2	?-1	-	-	-	-	-1	MRPL21	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000565125.1:c.-2_2delCCATinsGAAGATGGCGGCGGCCAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:68671276-68671280	GTGGCCGCCGCCATCTTC	ENSG00000197345	ENST00000362034	Transcript	coding_sequence_variant,5_prime_UTR_variant,feature_elongation	9-12	?-2	?-1	-	-	-	-	-1	MRPL21	HGNC	-	protein_coding	-	-	-	ENST00000362034.2:c.-2_2delCCATinsGAAGATGGCGGCGGCCAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:68671276-68671280	GTGGCCGCCGCCATCTTC	ENSG00000197345	ENST00000536637	Transcript	upstream_gene_variant	-	-	-	-	-	-	7	-1	MRPL21	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:68671276-68671280	GTGGCCGCCGCCATCTTC	ENSG00000197345	ENST00000567045	Transcript	upstream_gene_variant	-	-	-	-	-	-	31	-1	MRPL21	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:68671276-68671280	GTGGCCGCCGCCATCTTC	ENSG00000197345	ENST00000541279	Transcript	coding_sequence_variant,5_prime_UTR_variant,NMD_transcript_variant,feature_elongation	16-19	?-2	?-1	-	-	-	-	-1	MRPL21	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000541279.1:c.-2_2delCCATinsGAAGATGGCGGCGGCCAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:68671276-68671280	GTGGCCGCCGCCATCTTC	-	ENSR00000564483	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:73371882-73371886	CAGGTAAGTCTCCT	ENSG00000021300	ENST00000535582	Transcript	downstream_gene_variant	-	-	-	-	-	-	68	1	PLEKHB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:73371882-73371886	CAGGTAAGTCTCCT	ENSG00000021300	ENST00000539157	Transcript	downstream_gene_variant	-	-	-	-	-	-	82	1	PLEKHB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:73371882-73371886	CAGGTAAGTCTCCT	ENSG00000252732	ENST00000516923	Transcript	downstream_gene_variant	-	-	-	-	-	-	3674	-1	Y_RNA	RFAM	-	misc_RNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:73371882-73371886	CAGGTAAGTCTCCT	ENSG00000021300	ENST00000398492	Transcript	frameshift_variant,feature_elongation	907-910	476-479	159-160	-	-	-	-	1	PLEKHB1	HGNC	-	protein_coding	-	-	Superfamily_domains:SSF50729	ENST00000398492.4:c.476_479delGACCinsCAGGTAAGTCTCCT	ENSP00000381505.4:p.Gly159AlafsTer93	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:73371882-73371886	CAGGTAAGTCTCCT	ENSG00000021300	ENST00000354190	Transcript	frameshift_variant,feature_elongation	1012-1015	581-584	194-195	-	-	-	-	1	PLEKHB1	HGNC	19079	protein_coding	-	-	-	ENST00000354190.5:c.581_584delGACCinsCAGGTAAGTCTCCT	ENSP00000346127.5:p.Gly194AlafsTer93	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:73371882-73371886	CAGGTAAGTCTCCT	ENSG00000021300	ENST00000535129	Transcript	frameshift_variant,feature_elongation	780-783	419-422	140-141	-	-	-	-	1	PLEKHB1	HGNC	-	protein_coding	-	-	-	ENST00000535129.1:c.419_422delGACCinsCAGGTAAGTCTCCT	ENSP00000442616.1:p.Gly140AlafsTer93	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:73371882-73371886	CAGGTAAGTCTCCT	ENSG00000021300	ENST00000538227	Transcript	frameshift_variant,feature_elongation	542-545	419-422	140-141	-	-	-	-	1	PLEKHB1	HGNC	-	protein_coding	-	-	-	ENST00000538227.1:c.419_422delGACCinsCAGGTAAGTCTCCT	ENSP00000445807.1:p.Gly140AlafsTer10	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:73371882-73371886	CAGGTAAGTCTCCT	ENSG00000021300	ENST00000540157	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	481-484	-	-	-	-	-	-	1	PLEKHB1	HGNC	-	retained_intron	-	-	-	ENST00000540157.1:n.481_484delGACCinsCAGGTAAGTCTCCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:73371882-73371886	CAGGTAAGTCTCCT	ENSG00000021300	ENST00000426191	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	661-664	-	-	-	-	-	-	1	PLEKHB1	HGNC	-	retained_intron	-	-	-	ENST00000426191.2:n.661_664delGACCinsCAGGTAAGTCTCCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:73371882-73371886	CAGGTAAGTCTCCT	ENSG00000021300	ENST00000545106	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	530-533	-	-	-	-	-	-	1	PLEKHB1	HGNC	-	retained_intron	-	-	-	ENST00000545106.1:n.530_533delGACCinsCAGGTAAGTCTCCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:73371882-73371886	CAGGTAAGTCTCCT	ENSG00000021300	ENST00000546251	Transcript	downstream_gene_variant	-	-	-	-	-	-	72	1	PLEKHB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:73371882-73371886	CAGGTAAGTCTCCT	ENSG00000021300	ENST00000544282	Transcript	upstream_gene_variant	-	-	-	-	-	-	1512	1	PLEKHB1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:73371882-73371886	CAGGTAAGTCTCCT	ENSG00000021300	ENST00000543524	Transcript	frameshift_variant,feature_elongation	611-614	419-422	140-141	-	-	-	-	1	PLEKHB1	HGNC	-	protein_coding	-	-	-	ENST00000543524.1:c.419_422delGACCinsCAGGTAAGTCTCCT	ENSP00000444453.1:p.Gly140AlafsTer?	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:73371882-73371886	CAGGTAAGTCTCCT	ENSG00000021300	ENST00000540431	Transcript	frameshift_variant,feature_elongation	479-482	440-443	147-148	-	-	-	-	1	PLEKHB1	HGNC	-	protein_coding	-	-	-	ENST00000540431.1:c.440_443delGACCinsCAGGTAAGTCTCCT	ENSP00000441558.1:p.Gly147AlafsTer?	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:73371882-73371886	CAGGTAAGTCTCCT	ENSG00000021300	ENST00000398494	Transcript	frameshift_variant,feature_elongation	693-696	524-527	175-176	-	-	-	-	1	PLEKHB1	HGNC	-	protein_coding	-	-	-	ENST00000398494.4:c.524_527delGACCinsCAGGTAAGTCTCCT	ENSP00000381507.4:p.Gly175AlafsTer93	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:73371882-73371886	CAGGTAAGTCTCCT	ENSG00000021300	ENST00000543085	Transcript	frameshift_variant,feature_elongation	418-421	266-269	89-90	-	-	-	-	1	PLEKHB1	HGNC	-	protein_coding	-	-	-	ENST00000543085.1:c.266_269delGACCinsCAGGTAAGTCTCCT	ENSP00000441224.1:p.Gly89AlafsTer?	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:73371882-73371886	CAGGTAAGTCTCCT	ENSG00000021300	ENST00000227214	Transcript	frameshift_variant,feature_elongation	648-651	419-422	140-141	-	-	-	-	1	PLEKHB1	HGNC	-	protein_coding	-	-	-	ENST00000227214.6:c.419_422delGACCinsCAGGTAAGTCTCCT	ENSP00000227214.6:p.Gly140AlafsTer93	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:73371882-73371886	CAGGTAAGTCTCCT	ENSG00000021300	ENST00000542389	Transcript	downstream_gene_variant	-	-	-	-	-	-	43	1	PLEKHB1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:73371882-73371886	CAGGTAAGTCTCCT	ENSG00000021300	ENST00000541597	Transcript	frameshift_variant,feature_elongation	614-617	419-422	140-141	-	-	-	-	1	PLEKHB1	HGNC	-	protein_coding	-	-	-	ENST00000541597.1:c.419_422delGACCinsCAGGTAAGTCTCCT	ENSP00000442136.1:p.Gly140AlafsTer?	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:73371882-73371886	CAGGTAAGTCTCCT	-	ENSR00001571438	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:108352010-108352025	GCATCTA	ENSG00000178202	ENST00000530318	Transcript	frameshift_variant,feature_truncation	132-146	134-148	45-50	-	-	-	-	-1	KDELC2	HGNC	-	protein_coding	-	-	Pfam_domain:PF05686,SMART_domains:SM00672	ENST00000530318.1:c.132_146delAGCTGTCCAAAGAAAinsTAGATGC	ENSP00000436147.1:p.Gln45LeufsTer34	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:108352010-108352025	GCATCTA	ENSG00000178202	ENST00000323468	Transcript	frameshift_variant,feature_truncation	1046-1060	980-994	327-332	-	-	-	-	-1	KDELC2	HGNC	28496	protein_coding	-	-	Pfam_domain:PF05686,SMART_domains:SM00672	ENST00000323468.5:c.980_994delAGCTGTCCAAAGAAAinsTAGATGC	ENSP00000315386.5:p.Gln327LeufsTer34	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:108352010-108352025	GCATCTA	ENSG00000178202	ENST00000375648	Transcript	frameshift_variant,feature_truncation	1115-1129	812-826	271-276	-	-	-	-	-1	KDELC2	HGNC	-	protein_coding	-	-	Pfam_domain:PF05686,SMART_domains:SM00672	ENST00000375648.1:c.812_826delAGCTGTCCAAAGAAAinsTAGATGC	ENSP00000364799.1:p.Gln271LeufsTer34	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:108352010-108352025	GCATCTA	ENSG00000178202	ENST00000530529	Transcript	frameshift_variant,NMD_transcript_variant,feature_truncation	828-842	812-826	271-276	-	-	-	-	-1	KDELC2	HGNC	-	nonsense_mediated_decay	-	-	Pfam_domain:PF05686,SMART_domains:SM00672	ENST00000530529.1:c.812_826delAGCTGTCCAAAGAAAinsTAGATGC	ENSP00000431796.1:p.Gln271LeufsTer34	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:108352010-108352025	GCATCTA	ENSG00000178202	ENST00000434945	Transcript	frameshift_variant,feature_truncation	1115-1129	812-826	271-276	-	-	-	-	-1	KDELC2	HGNC	-	protein_coding	-	-	Pfam_domain:PF05686,SMART_domains:SM00672	ENST00000434945.2:c.812_826delAGCTGTCCAAAGAAAinsTAGATGC	ENSP00000413429.2:p.Gln271LeufsTer34	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:108352010-108352025	GCATCTA	ENSG00000178202	ENST00000524787	Transcript	downstream_gene_variant	-	-	-	-	-	-	863	-1	KDELC2	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	11:108352010-108352025	GCATCTA	ENSG00000178202	ENST00000532730	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	-1	KDELC2	HGNC	-	processed_transcript	-	-	-	ENST00000532730.1:n.82-3587_82-3573delAGCTGTCCAAAGAAAinsTAGATGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045888-7045912	CAA	ENSG00000111676	ENST00000396684	Transcript	inframe_deletion	1693-1716	1459-1482	487-494	QQQQQQQQ/Q	CAACAGCAGCAGCAGCAGCAGCAG/CAA	-	-	1	ATN1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000396684.2:c.1459_1482delCAACAGCAGCAGCAGCAGCAGCAGinsCAA	ENSP00000379915.2:p.Gln488_Gln494del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045888-7045912	CAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000396684	Transcript	inframe_deletion	1693-1716	1459-1482	487-494	QQQQQQQQ/QQQQQQQ	CAACAGCAGCAGCAGCAGCAGCAG/CAGCAGCAGCAGCAGCAGCAG	-	-	1	ATN1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000396684.2:c.1459_1482delCAACAGCAGCAGCAGCAGCAGCAGinsCAGCAGCAGCAGCAGCAGCAG	ENSP00000379915.2:p.Gln496del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045888-7045912	CAA	ENSG00000111676	ENST00000356654	Transcript	inframe_deletion	1696-1719	1459-1482	487-494	QQQQQQQQ/Q	CAACAGCAGCAGCAGCAGCAGCAG/CAA	-	-	1	ATN1	HGNC	3033	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000356654.4:c.1459_1482delCAACAGCAGCAGCAGCAGCAGCAGinsCAA	ENSP00000349076.3:p.Gln488_Gln494del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045888-7045912	CAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000356654	Transcript	inframe_deletion	1696-1719	1459-1482	487-494	QQQQQQQQ/QQQQQQQ	CAACAGCAGCAGCAGCAGCAGCAG/CAGCAGCAGCAGCAGCAGCAG	-	-	1	ATN1	HGNC	3033	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000356654.4:c.1459_1482delCAACAGCAGCAGCAGCAGCAGCAGinsCAGCAGCAGCAGCAGCAGCAG	ENSP00000349076.3:p.Gln496del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045888-7045912	CAA	ENSG00000111676	ENST00000537488	Transcript	upstream_gene_variant	-	-	-	-	-	-	2358	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045888-7045912	CAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000537488	Transcript	upstream_gene_variant	-	-	-	-	-	-	2358	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045888-7045912	CAA	ENSG00000111676	ENST00000541029	Transcript	upstream_gene_variant	-	-	-	-	-	-	949	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045888-7045912	CAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000541029	Transcript	upstream_gene_variant	-	-	-	-	-	-	949	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045888-7045912	CAA	-	ENSR00000653024	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045888-7045912	CAGCAGCAGCAGCAGCAGCAG	-	ENSR00000653024	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045891-7045900	-	ENSG00000111676	ENST00000396684	Transcript	inframe_deletion	1696-1704	1462-1470	488-490	QQQ/-	CAGCAGCAG/-	-	-	1	ATN1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000396684.2:c.1462_1470delCAGCAGCAG	ENSP00000379915.2:p.Gln488_Gln490del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045891-7045900	CAG	ENSG00000111676	ENST00000396684	Transcript	inframe_deletion	1696-1704	1462-1470	488-490	QQQ/Q	CAGCAGCAG/CAG	-	-	1	ATN1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000396684.2:c.1462_1470delCAGCAGCAGinsCAG	ENSP00000379915.2:p.Gln490_Gln491del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045891-7045900	CAGCAGCAGCAGCAG	ENSG00000111676	ENST00000396684	Transcript	inframe_insertion	1696-1704	1462-1470	488-490	QQQ/QQQQQ	CAGCAGCAG/CAGCAGCAGCAGCAG	-	-	1	ATN1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000396684.2:c.1462_1470delCAGCAGCAGinsCAGCAGCAGCAGCAG	ENSP00000379915.2:p.Gln489_Gln490dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045891-7045900	-	ENSG00000111676	ENST00000356654	Transcript	inframe_deletion	1699-1707	1462-1470	488-490	QQQ/-	CAGCAGCAG/-	-	-	1	ATN1	HGNC	3033	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000356654.4:c.1462_1470delCAGCAGCAG	ENSP00000349076.3:p.Gln488_Gln490del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045891-7045900	CAG	ENSG00000111676	ENST00000356654	Transcript	inframe_deletion	1699-1707	1462-1470	488-490	QQQ/Q	CAGCAGCAG/CAG	-	-	1	ATN1	HGNC	3033	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000356654.4:c.1462_1470delCAGCAGCAGinsCAG	ENSP00000349076.3:p.Gln490_Gln491del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045891-7045900	CAGCAGCAGCAGCAG	ENSG00000111676	ENST00000356654	Transcript	inframe_insertion	1699-1707	1462-1470	488-490	QQQ/QQQQQ	CAGCAGCAG/CAGCAGCAGCAGCAG	-	-	1	ATN1	HGNC	3033	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000356654.4:c.1462_1470delCAGCAGCAGinsCAGCAGCAGCAGCAG	ENSP00000349076.3:p.Gln489_Gln490dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045891-7045900	-	ENSG00000111676	ENST00000537488	Transcript	upstream_gene_variant	-	-	-	-	-	-	2370	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045891-7045900	CAG	ENSG00000111676	ENST00000537488	Transcript	upstream_gene_variant	-	-	-	-	-	-	2370	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045891-7045900	CAGCAGCAGCAGCAG	ENSG00000111676	ENST00000537488	Transcript	upstream_gene_variant	-	-	-	-	-	-	2370	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045891-7045900	-	ENSG00000111676	ENST00000541029	Transcript	upstream_gene_variant	-	-	-	-	-	-	961	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045891-7045900	CAG	ENSG00000111676	ENST00000541029	Transcript	upstream_gene_variant	-	-	-	-	-	-	961	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045891-7045900	CAGCAGCAGCAGCAG	ENSG00000111676	ENST00000541029	Transcript	upstream_gene_variant	-	-	-	-	-	-	961	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045891-7045900	-	-	ENSR00000653024	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045891-7045900	CAG	-	ENSR00000653024	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045891-7045900	CAGCAGCAGCAGCAG	-	ENSR00000653024	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045891-7045903	-	ENSG00000111676	ENST00000396684	Transcript	inframe_deletion	1696-1707	1462-1473	488-491	QQQQ/-	CAGCAGCAGCAG/-	COSM1476883	-	1	ATN1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000396684.2:c.1462_1473delCAGCAGCAGCAG	ENSP00000379915.2:p.Gln488_Gln491del	-	-	-	-	-	-	-	-	1	-	-	-	-
.	12:7045891-7045903	-	ENSG00000111676	ENST00000356654	Transcript	inframe_deletion	1699-1710	1462-1473	488-491	QQQQ/-	CAGCAGCAGCAG/-	COSM1476883	-	1	ATN1	HGNC	3033	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000356654.4:c.1462_1473delCAGCAGCAGCAG	ENSP00000349076.3:p.Gln488_Gln491del	-	-	-	-	-	-	-	-	1	-	-	-	-
.	12:7045891-7045903	-	ENSG00000111676	ENST00000537488	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476883	2367	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	12:7045891-7045903	-	ENSG00000111676	ENST00000541029	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476883	958	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	12:7045891-7045903	-	-	ENSR00000653024	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	COSM1476883	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	12:7045891-7045906	-	ENSG00000111676	ENST00000396684	Transcript	inframe_deletion	1696-1710	1462-1476	488-492	QQQQQ/-	CAGCAGCAGCAGCAG/-	COSM431783,rs377147612	-	1	ATN1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000396684.2:c.1462_1476delCAGCAGCAGCAGCAG	ENSP00000379915.2:p.Gln488_Gln492del	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045906	-	ENSG00000111676	ENST00000356654	Transcript	inframe_deletion	1699-1713	1462-1476	488-492	QQQQQ/-	CAGCAGCAGCAGCAG/-	COSM431783,rs377147612	-	1	ATN1	HGNC	3033	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000356654.4:c.1462_1476delCAGCAGCAGCAGCAG	ENSP00000349076.3:p.Gln488_Gln492del	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045906	-	ENSG00000111676	ENST00000537488	Transcript	upstream_gene_variant	-	-	-	-	-	COSM431783,rs377147612	2364	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045906	-	ENSG00000111676	ENST00000541029	Transcript	upstream_gene_variant	-	-	-	-	-	COSM431783,rs377147612	955	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045906	-	-	ENSR00000653024	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	COSM431783,rs377147612	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	-	ENSG00000111676	ENST00000396684	Transcript	inframe_deletion	1696-1716	1462-1482	488-494	QQQQQQQ/-	CAGCAGCAGCAGCAGCAGCAG/-	COSM1476884,rs66756893	-	1	ATN1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000396684.2:c.1462_1482delCAGCAGCAGCAGCAGCAGCAG	ENSP00000379915.2:p.Gln488_Gln494del	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000396684	Transcript	inframe_insertion	1696-1716	1462-1482	488-494	QQQQQQQ/QQQQQQQQ	CAGCAGCAGCAGCAGCAGCAG/CAGCAGCAGCAGCAGCAGCAGCAG	COSM1476884,rs66756893	-	1	ATN1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000396684.2:c.1462_1482delCAGCAGCAGCAGCAGCAGCAGinsCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000379915.2:p.Gln494dup	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000396684	Transcript	inframe_insertion	1696-1716	1462-1482	488-494	QQQQQQQ/QQQQQQQQQQQQ	CAGCAGCAGCAGCAGCAGCAG/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	COSM1476884,rs66756893	-	1	ATN1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000396684.2:c.1462_1482delCAGCAGCAGCAGCAGCAGCAGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000379915.2:p.Gln490_Gln494dup	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAG	ENSG00000111676	ENST00000396684	Transcript	inframe_deletion	1696-1716	1462-1482	488-494	QQQQQQQ/QQ	CAGCAGCAGCAGCAGCAGCAG/CAGCAG	COSM1476884,rs66756893	-	1	ATN1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000396684.2:c.1462_1482delCAGCAGCAGCAGCAGCAGCAGinsCAGCAG	ENSP00000379915.2:p.Gln490_Gln494del	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	-	ENSG00000111676	ENST00000356654	Transcript	inframe_deletion	1699-1719	1462-1482	488-494	QQQQQQQ/-	CAGCAGCAGCAGCAGCAGCAG/-	COSM1476884,rs66756893	-	1	ATN1	HGNC	3033	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000356654.4:c.1462_1482delCAGCAGCAGCAGCAGCAGCAG	ENSP00000349076.3:p.Gln488_Gln494del	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000356654	Transcript	inframe_insertion	1699-1719	1462-1482	488-494	QQQQQQQ/QQQQQQQQ	CAGCAGCAGCAGCAGCAGCAG/CAGCAGCAGCAGCAGCAGCAGCAG	COSM1476884,rs66756893	-	1	ATN1	HGNC	3033	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000356654.4:c.1462_1482delCAGCAGCAGCAGCAGCAGCAGinsCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000349076.3:p.Gln494dup	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000356654	Transcript	inframe_insertion	1699-1719	1462-1482	488-494	QQQQQQQ/QQQQQQQQQQQQ	CAGCAGCAGCAGCAGCAGCAG/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	COSM1476884,rs66756893	-	1	ATN1	HGNC	3033	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000356654.4:c.1462_1482delCAGCAGCAGCAGCAGCAGCAGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000349076.3:p.Gln490_Gln494dup	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAG	ENSG00000111676	ENST00000356654	Transcript	inframe_deletion	1699-1719	1462-1482	488-494	QQQQQQQ/QQ	CAGCAGCAGCAGCAGCAGCAG/CAGCAG	COSM1476884,rs66756893	-	1	ATN1	HGNC	3033	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000356654.4:c.1462_1482delCAGCAGCAGCAGCAGCAGCAGinsCAGCAG	ENSP00000349076.3:p.Gln490_Gln494del	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	-	ENSG00000111676	ENST00000537488	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	2358	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000537488	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	2358	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000537488	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	2358	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAG	ENSG00000111676	ENST00000537488	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	2358	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	-	ENSG00000111676	ENST00000541029	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	949	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000541029	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	949	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000541029	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	949	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAG	ENSG00000111676	ENST00000541029	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	949	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	-	-	ENSR00000653024	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	COSM1476884,rs66756893	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAG	-	ENSR00000653024	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	COSM1476884,rs66756893	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	ENSR00000653024	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	COSM1476884,rs66756893	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAG	-	ENSR00000653024	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	COSM1476884,rs66756893	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAG	ENSG00000111676	ENST00000396684	Transcript	inframe_deletion	1696-1716	1462-1482	488-494	QQQQQQQ/QQQ	CAGCAGCAGCAGCAGCAGCAG/CAGCAGCAG	COSM1476884,rs66756893	-	1	ATN1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000396684.2:c.1462_1482delCAGCAGCAGCAGCAGCAGCAGinsCAGCAGCAG	ENSP00000379915.2:p.Gln491_Gln494del	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000396684	Transcript	inframe_insertion	1696-1716	1462-1482	488-494	QQQQQQQ/QQQQQQQQQQQQQQ	CAGCAGCAGCAGCAGCAGCAG/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	COSM1476884,rs66756893	-	1	ATN1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000396684.2:c.1462_1482dupCAGCAGCAGCAGCAGCAGCAG	ENSP00000379915.2:p.Gln488_Gln494dup	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000396684	Transcript	inframe_insertion	1696-1716	1462-1482	488-494	QQQQQQQ/QQQQQQQQQQQ	CAGCAGCAGCAGCAGCAGCAG/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	COSM1476884,rs66756893	-	1	ATN1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000396684.2:c.1462_1482delCAGCAGCAGCAGCAGCAGCAGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000379915.2:p.Gln491_Gln494dup	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000396684	Transcript	inframe_insertion	1696-1716	1462-1482	488-494	QQQQQQQ/QQQQQQQQQQ	CAGCAGCAGCAGCAGCAGCAG/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	COSM1476884,rs66756893	-	1	ATN1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000396684.2:c.1462_1482delCAGCAGCAGCAGCAGCAGCAGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000379915.2:p.Gln492_Gln494dup	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAG	ENSG00000111676	ENST00000396684	Transcript	inframe_deletion	1696-1716	1462-1482	488-494	QQQQQQQ/QQQQQ	CAGCAGCAGCAGCAGCAGCAG/CAGCAGCAGCAGCAG	COSM1476884,rs66756893	-	1	ATN1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000396684.2:c.1462_1482delCAGCAGCAGCAGCAGCAGCAGinsCAGCAGCAGCAGCAG	ENSP00000379915.2:p.Gln494_Gln495del	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAG	ENSG00000111676	ENST00000396684	Transcript	inframe_deletion	1696-1716	1462-1482	488-494	QQQQQQQ/QQ	CAGCAGCAGCAGCAGCAGCAG/CAGCAG	COSM1476884,rs66756893	-	1	ATN1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000396684.2:c.1462_1482delCAGCAGCAGCAGCAGCAGCAGinsCAGCAG	ENSP00000379915.2:p.Gln490_Gln494del	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000396684	Transcript	inframe_deletion	1696-1716	1462-1482	488-494	QQQQQQQ/QQQQQQ	CAGCAGCAGCAGCAGCAGCAG/CAGCAGCAGCAGCAGCAG	COSM1476884,rs66756893	-	1	ATN1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000396684.2:c.1462_1482delCAGCAGCAGCAGCAGCAGCAGinsCAGCAGCAGCAGCAGCAG	ENSP00000379915.2:p.Gln496del	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	-	ENSG00000111676	ENST00000396684	Transcript	inframe_deletion	1696-1716	1462-1482	488-494	QQQQQQQ/-	CAGCAGCAGCAGCAGCAGCAG/-	COSM1476884,rs66756893	-	1	ATN1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000396684.2:c.1462_1482delCAGCAGCAGCAGCAGCAGCAG	ENSP00000379915.2:p.Gln488_Gln494del	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAG	ENSG00000111676	ENST00000396684	Transcript	inframe_deletion	1696-1716	1462-1482	488-494	QQQQQQQ/Q	CAGCAGCAGCAGCAGCAGCAG/CAG	COSM1476884,rs66756893	-	1	ATN1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000396684.2:c.1462_1482delCAGCAGCAGCAGCAGCAGCAGinsCAG	ENSP00000379915.2:p.Gln489_Gln494del	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAG	ENSG00000111676	ENST00000396684	Transcript	inframe_deletion	1696-1716	1462-1482	488-494	QQQQQQQ/QQQQ	CAGCAGCAGCAGCAGCAGCAG/CAGCAGCAGCAG	COSM1476884,rs66756893	-	1	ATN1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000396684.2:c.1462_1482delCAGCAGCAGCAGCAGCAGCAGinsCAGCAGCAGCAG	ENSP00000379915.2:p.Gln492_Gln494del	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000396684	Transcript	inframe_insertion	1696-1716	1462-1482	488-494	QQQQQQQ/QQQQQQQQQQQQ	CAGCAGCAGCAGCAGCAGCAG/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	COSM1476884,rs66756893	-	1	ATN1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000396684.2:c.1462_1482delCAGCAGCAGCAGCAGCAGCAGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000379915.2:p.Gln490_Gln494dup	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000396684	Transcript	inframe_insertion	1696-1716	1462-1482	488-494	QQQQQQQ/QQQQQQQQQQQQQQQQQQ	CAGCAGCAGCAGCAGCAGCAG/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	COSM1476884,rs66756893	-	1	ATN1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000396684.2:c.1462_1482delCAGCAGCAGCAGCAGCAGCAGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000379915.2:p.Gln484_Gln494dup	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000396684	Transcript	inframe_insertion	1696-1716	1462-1482	488-494	QQQQQQQ/QQQQQQQQQ	CAGCAGCAGCAGCAGCAGCAG/CAGCAGCAGCAGCAGCAGCAGCAGCAG	COSM1476884,rs66756893	-	1	ATN1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000396684.2:c.1462_1482delCAGCAGCAGCAGCAGCAGCAGinsCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000379915.2:p.Gln493_Gln494dup	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000396684	Transcript	inframe_insertion	1696-1716	1462-1482	488-494	QQQQQQQ/QQQQQQQQ	CAGCAGCAGCAGCAGCAGCAG/CAGCAGCAGCAGCAGCAGCAGCAG	COSM1476884,rs66756893	-	1	ATN1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000396684.2:c.1462_1482delCAGCAGCAGCAGCAGCAGCAGinsCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000379915.2:p.Gln494dup	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAG	ENSG00000111676	ENST00000356654	Transcript	inframe_deletion	1699-1719	1462-1482	488-494	QQQQQQQ/QQQ	CAGCAGCAGCAGCAGCAGCAG/CAGCAGCAG	COSM1476884,rs66756893	-	1	ATN1	HGNC	3033	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000356654.4:c.1462_1482delCAGCAGCAGCAGCAGCAGCAGinsCAGCAGCAG	ENSP00000349076.3:p.Gln491_Gln494del	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000356654	Transcript	inframe_insertion	1699-1719	1462-1482	488-494	QQQQQQQ/QQQQQQQQQQQQQQ	CAGCAGCAGCAGCAGCAGCAG/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	COSM1476884,rs66756893	-	1	ATN1	HGNC	3033	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000356654.4:c.1462_1482dupCAGCAGCAGCAGCAGCAGCAG	ENSP00000349076.3:p.Gln488_Gln494dup	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000356654	Transcript	inframe_insertion	1699-1719	1462-1482	488-494	QQQQQQQ/QQQQQQQQQQQ	CAGCAGCAGCAGCAGCAGCAG/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	COSM1476884,rs66756893	-	1	ATN1	HGNC	3033	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000356654.4:c.1462_1482delCAGCAGCAGCAGCAGCAGCAGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000349076.3:p.Gln491_Gln494dup	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000356654	Transcript	inframe_insertion	1699-1719	1462-1482	488-494	QQQQQQQ/QQQQQQQQQQ	CAGCAGCAGCAGCAGCAGCAG/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	COSM1476884,rs66756893	-	1	ATN1	HGNC	3033	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000356654.4:c.1462_1482delCAGCAGCAGCAGCAGCAGCAGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000349076.3:p.Gln492_Gln494dup	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAG	ENSG00000111676	ENST00000356654	Transcript	inframe_deletion	1699-1719	1462-1482	488-494	QQQQQQQ/QQQQQ	CAGCAGCAGCAGCAGCAGCAG/CAGCAGCAGCAGCAG	COSM1476884,rs66756893	-	1	ATN1	HGNC	3033	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000356654.4:c.1462_1482delCAGCAGCAGCAGCAGCAGCAGinsCAGCAGCAGCAGCAG	ENSP00000349076.3:p.Gln494_Gln495del	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAG	ENSG00000111676	ENST00000356654	Transcript	inframe_deletion	1699-1719	1462-1482	488-494	QQQQQQQ/QQ	CAGCAGCAGCAGCAGCAGCAG/CAGCAG	COSM1476884,rs66756893	-	1	ATN1	HGNC	3033	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000356654.4:c.1462_1482delCAGCAGCAGCAGCAGCAGCAGinsCAGCAG	ENSP00000349076.3:p.Gln490_Gln494del	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000356654	Transcript	inframe_deletion	1699-1719	1462-1482	488-494	QQQQQQQ/QQQQQQ	CAGCAGCAGCAGCAGCAGCAG/CAGCAGCAGCAGCAGCAG	COSM1476884,rs66756893	-	1	ATN1	HGNC	3033	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000356654.4:c.1462_1482delCAGCAGCAGCAGCAGCAGCAGinsCAGCAGCAGCAGCAGCAG	ENSP00000349076.3:p.Gln496del	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	-	ENSG00000111676	ENST00000356654	Transcript	inframe_deletion	1699-1719	1462-1482	488-494	QQQQQQQ/-	CAGCAGCAGCAGCAGCAGCAG/-	COSM1476884,rs66756893	-	1	ATN1	HGNC	3033	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000356654.4:c.1462_1482delCAGCAGCAGCAGCAGCAGCAG	ENSP00000349076.3:p.Gln488_Gln494del	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAG	ENSG00000111676	ENST00000356654	Transcript	inframe_deletion	1699-1719	1462-1482	488-494	QQQQQQQ/Q	CAGCAGCAGCAGCAGCAGCAG/CAG	COSM1476884,rs66756893	-	1	ATN1	HGNC	3033	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000356654.4:c.1462_1482delCAGCAGCAGCAGCAGCAGCAGinsCAG	ENSP00000349076.3:p.Gln489_Gln494del	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAG	ENSG00000111676	ENST00000356654	Transcript	inframe_deletion	1699-1719	1462-1482	488-494	QQQQQQQ/QQQQ	CAGCAGCAGCAGCAGCAGCAG/CAGCAGCAGCAG	COSM1476884,rs66756893	-	1	ATN1	HGNC	3033	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000356654.4:c.1462_1482delCAGCAGCAGCAGCAGCAGCAGinsCAGCAGCAGCAG	ENSP00000349076.3:p.Gln492_Gln494del	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000356654	Transcript	inframe_insertion	1699-1719	1462-1482	488-494	QQQQQQQ/QQQQQQQQQQQQ	CAGCAGCAGCAGCAGCAGCAG/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	COSM1476884,rs66756893	-	1	ATN1	HGNC	3033	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000356654.4:c.1462_1482delCAGCAGCAGCAGCAGCAGCAGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000349076.3:p.Gln490_Gln494dup	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000356654	Transcript	inframe_insertion	1699-1719	1462-1482	488-494	QQQQQQQ/QQQQQQQQQQQQQQQQQQ	CAGCAGCAGCAGCAGCAGCAG/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	COSM1476884,rs66756893	-	1	ATN1	HGNC	3033	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000356654.4:c.1462_1482delCAGCAGCAGCAGCAGCAGCAGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000349076.3:p.Gln484_Gln494dup	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000356654	Transcript	inframe_insertion	1699-1719	1462-1482	488-494	QQQQQQQ/QQQQQQQQQ	CAGCAGCAGCAGCAGCAGCAG/CAGCAGCAGCAGCAGCAGCAGCAGCAG	COSM1476884,rs66756893	-	1	ATN1	HGNC	3033	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000356654.4:c.1462_1482delCAGCAGCAGCAGCAGCAGCAGinsCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000349076.3:p.Gln493_Gln494dup	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000356654	Transcript	inframe_insertion	1699-1719	1462-1482	488-494	QQQQQQQ/QQQQQQQQ	CAGCAGCAGCAGCAGCAGCAG/CAGCAGCAGCAGCAGCAGCAGCAG	COSM1476884,rs66756893	-	1	ATN1	HGNC	3033	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000356654.4:c.1462_1482delCAGCAGCAGCAGCAGCAGCAGinsCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000349076.3:p.Gln494dup	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAG	ENSG00000111676	ENST00000537488	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	2358	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000537488	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	2358	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000537488	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	2358	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000537488	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	2358	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAG	ENSG00000111676	ENST00000537488	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	2358	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAG	ENSG00000111676	ENST00000537488	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	2358	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000537488	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	2358	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	-	ENSG00000111676	ENST00000537488	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	2358	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAG	ENSG00000111676	ENST00000537488	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	2358	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAG	ENSG00000111676	ENST00000537488	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	2358	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000537488	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	2358	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000537488	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	2358	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000537488	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	2358	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000537488	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	2358	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAG	ENSG00000111676	ENST00000541029	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	949	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000541029	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	949	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000541029	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	949	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000541029	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	949	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAG	ENSG00000111676	ENST00000541029	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	949	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAG	ENSG00000111676	ENST00000541029	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	949	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000541029	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	949	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	-	ENSG00000111676	ENST00000541029	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	949	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAG	ENSG00000111676	ENST00000541029	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	949	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAG	ENSG00000111676	ENST00000541029	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	949	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000541029	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	949	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000541029	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	949	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000541029	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	949	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000111676	ENST00000541029	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1476884,rs66756893	949	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAG	-	ENSR00000653024	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	COSM1476884,rs66756893	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	ENSR00000653024	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	COSM1476884,rs66756893	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	ENSR00000653024	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	COSM1476884,rs66756893	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	ENSR00000653024	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	COSM1476884,rs66756893	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAG	-	ENSR00000653024	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	COSM1476884,rs66756893	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAG	-	ENSR00000653024	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	COSM1476884,rs66756893	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAG	-	ENSR00000653024	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	COSM1476884,rs66756893	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	-	-	ENSR00000653024	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	COSM1476884,rs66756893	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAG	-	ENSR00000653024	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	COSM1476884,rs66756893	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAG	-	ENSR00000653024	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	COSM1476884,rs66756893	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	ENSR00000653024	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	COSM1476884,rs66756893	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	ENSR00000653024	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	COSM1476884,rs66756893	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAGCAG	-	ENSR00000653024	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	COSM1476884,rs66756893	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045912	CAGCAGCAGCAGCAGCAGCAGCAG	-	ENSR00000653024	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	COSM1476884,rs66756893	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,0	-	-	-	-
.	12:7045891-7045915	-	ENSG00000111676	ENST00000396684	Transcript	inframe_deletion	1696-1719	1462-1485	488-495	QQQQQQQQ/-	CAGCAGCAGCAGCAGCAGCAGCAG/-	-	-	1	ATN1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000396684.2:c.1462_1485delCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000379915.2:p.Gln488_Gln495del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045891-7045915	-	ENSG00000111676	ENST00000356654	Transcript	inframe_deletion	1699-1722	1462-1485	488-495	QQQQQQQQ/-	CAGCAGCAGCAGCAGCAGCAGCAG/-	-	-	1	ATN1	HGNC	3033	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000356654.4:c.1462_1485delCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000349076.3:p.Gln488_Gln495del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045891-7045915	-	ENSG00000111676	ENST00000537488	Transcript	upstream_gene_variant	-	-	-	-	-	-	2355	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045891-7045915	-	ENSG00000111676	ENST00000541029	Transcript	upstream_gene_variant	-	-	-	-	-	-	946	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045891-7045915	-	-	ENSR00000653024	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045896-7045918	A	ENSG00000111676	ENST00000396684	Transcript	feature_truncation	1701-1722	1467-1488	489-496	QQQQQQQQ/Q	caGCAGCAGCAGCAGCAGCAGCAG/caA	-	-	1	ATN1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000396684.2:c.1467_1488delGCAGCAGCAGCAGCAGCAGCAGinsA	ENSP00000379915.2:p.Gln490_Gln496del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045896-7045918	A	ENSG00000111676	ENST00000356654	Transcript	feature_truncation	1704-1725	1467-1488	489-496	QQQQQQQQ/Q	caGCAGCAGCAGCAGCAGCAGCAG/caA	-	-	1	ATN1	HGNC	3033	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,Pfam_domain:PF03154,PROSITE_profiles:PS50322,PROSITE_profiles:PS50099	ENST00000356654.4:c.1467_1488delGCAGCAGCAGCAGCAGCAGCAGinsA	ENSP00000349076.3:p.Gln490_Gln496del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045896-7045918	A	ENSG00000111676	ENST00000537488	Transcript	upstream_gene_variant	-	-	-	-	-	-	2352	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045896-7045918	A	ENSG00000111676	ENST00000541029	Transcript	upstream_gene_variant	-	-	-	-	-	-	943	1	ATN1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:7045896-7045918	A	-	ENSR00000653024	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:12630675-12630685	T	ENSG00000111266	ENST00000545864	Transcript	downstream_gene_variant	-	-	-	-	-	-	135	-1	DUSP16	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:12630675-12630685	T	ENSG00000111266	ENST00000228862	Transcript	feature_truncation	1712-1721	1080-1089	360-363	VPSV/V	gtGCCCAGCGTG/gtA	-	-	-1	DUSP16	HGNC	17909	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000228862.2:c.1080_1089delGCCCAGCGTGinsA	ENSP00000228862.2:p.Pro361_Val363del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:12630675-12630685	T	ENSG00000111266	ENST00000298573	Transcript	3_prime_UTR_variant,feature_truncation	943-952	-	-	-	-	-	-	-1	DUSP16	HGNC	-	protein_coding	-	-	-	ENST00000298573.4:c.*484_*493delGCCCAGCGTGinsA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:48140489-48140501	CCT	ENSG00000079337	ENST00000494764	Transcript	downstream_gene_variant	-	-	-	-	-	-	139	-1	RAPGEF3	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:48140489-48140501	CCT	ENSG00000079337	ENST00000466322	Transcript	downstream_gene_variant	-	-	-	-	-	-	3235	-1	RAPGEF3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:48140489-48140501	CCT	ENSG00000079337	ENST00000395358	Transcript	feature_truncation	1827-1838	1738-1749	580-583	GALA/R	GGGGCCCTTGCT/AGG	-	-	-1	RAPGEF3	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000395358.3:c.1738_1749delGGGGCCCTTGCTinsAGG	ENSP00000378764.3:p.Gly580_Ala583delinsArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:48140489-48140501	CCT	ENSG00000079337	ENST00000548919	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	RAPGEF3	HGNC	-	protein_coding	-	-	-	ENST00000548919.1:c.1470+142_1470+153delGGGGCCCTTGCTinsAGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:48140489-48140501	CCT	ENSG00000079337	ENST00000389212	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	RAPGEF3	HGNC	-	protein_coding	-	-	-	ENST00000389212.3:c.1596+142_1596+153delGGGGCCCTTGCTinsAGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:48140489-48140501	CCT	ENSG00000079337	ENST00000171000	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	RAPGEF3	HGNC	-	protein_coding	-	-	-	ENST00000171000.4:c.1470+142_1470+153delGGGGCCCTTGCTinsAGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:48140489-48140501	CCT	ENSG00000079337	ENST00000479866	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	-1	RAPGEF3	HGNC	-	retained_intron	-	-	-	ENST00000479866.1:n.2612+142_2612+153delGGGGCCCTTGCTinsAGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:48140489-48140501	CCT	ENSG00000079337	ENST00000473777	Transcript	upstream_gene_variant	-	-	-	-	-	-	4809	-1	RAPGEF3	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:48140489-48140501	CCT	ENSG00000079337	ENST00000549151	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	RAPGEF3	HGNC	-	protein_coding	-	-	-	ENST00000549151.1:c.1470+142_1470+153delGGGGCCCTTGCTinsAGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:48140489-48140501	CCT	ENSG00000079337	ENST00000395360	Transcript	upstream_gene_variant	-	-	-	-	-	-	1801	-1	RAPGEF3	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:48140489-48140501	CCT	ENSG00000079337	ENST00000449771	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	RAPGEF3	HGNC	-	protein_coding	-	-	-	ENST00000449771.2:c.1596+142_1596+153delGGGGCCCTTGCTinsAGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:48140489-48140501	CCT	ENSG00000257433	ENST00000547799	Transcript	downstream_gene_variant	-	-	-	-	-	-	4413	1	RP1-197B17.3	Clone_based_vega_gene	-	lincRNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:48140489-48140501	CCT	ENSG00000079337	ENST00000547856	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	-1	RAPGEF3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000547856.1:c.*904+142_*904+153delGGGGCCCTTGCTinsAGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:48140489-48140501	CCT	ENSG00000079337	ENST00000495953	Transcript	downstream_gene_variant	-	-	-	-	-	-	4452	-1	RAPGEF3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:48140489-48140501	CCT	ENSG00000079337	ENST00000488250	Transcript	upstream_gene_variant	-	-	-	-	-	-	4415	-1	RAPGEF3	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:48140489-48140501	CCT	ENSG00000079337	ENST00000405493	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	RAPGEF3	HGNC	16629	protein_coding	-	-	-	ENST00000405493.2:c.1470+142_1470+153delGGGGCCCTTGCTinsAGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:48140489-48140501	CCT	ENSG00000079337	ENST00000482843	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	-1	RAPGEF3	HGNC	-	retained_intron	-	-	-	ENST00000482843.1:n.2090+142_2090+153delGGGGCCCTTGCTinsAGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:48140489-48140501	CCT	ENSG00000079337	ENST00000495465	Transcript	downstream_gene_variant	-	-	-	-	-	-	1001	-1	RAPGEF3	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:49724075-49724085	G	ENSG00000135451	ENST00000551245	Transcript	feature_truncation	1559-1568	1448-1457	483-486	EHNS/G	gAGCATAACTCt/gGt	-	-	1	TROAP	HGNC	-	protein_coding	-	-	-	ENST00000551245.1:c.1448_1457delAGCATAACTCinsG	ENSP00000447509.1:p.Glu483_Ser486delinsGly	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:49724075-49724085	G	ENSG00000135451	ENST00000546735	Transcript	downstream_gene_variant	-	-	-	-	-	-	695	1	TROAP	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:49724075-49724085	G	ENSG00000135451	ENST00000551192	Transcript	downstream_gene_variant	-	-	-	-	-	-	508	1	TROAP	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:49724075-49724085	G	ENSG00000135451	ENST00000549891	Transcript	downstream_gene_variant	-	-	-	-	-	-	659	1	TROAP	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:49724075-49724085	G	ENSG00000135451	ENST00000546776	Transcript	downstream_gene_variant	-	-	-	-	-	-	1232	1	TROAP	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:49724075-49724085	G	ENSG00000135451	ENST00000547923	Transcript	feature_truncation	759-768	572-581	191-194	EHNS/G	gAGCATAACTCt/gGt	-	-	1	TROAP	HGNC	-	protein_coding	-	-	-	ENST00000547923.1:c.572_581delAGCATAACTCinsG	ENSP00000447421.1:p.Glu191_Ser194delinsGly	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:49724075-49724085	G	ENSG00000135451	ENST00000257909	Transcript	feature_truncation	1524-1533	1448-1457	483-486	EHNS/G	gAGCATAACTCt/gGt	-	-	1	TROAP	HGNC	-	protein_coding	-	-	-	ENST00000257909.3:c.1448_1457delAGCATAACTCinsG	ENSP00000257909.3:p.Glu483_Ser486delinsGly	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:49724075-49724085	G	ENSG00000186897	ENST00000334221	Transcript	downstream_gene_variant	-	-	-	-	-	-	2115	-1	C1QL4	HGNC	31416	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:49724075-49724085	G	ENSG00000135451	ENST00000548817	Transcript	downstream_gene_variant	-	-	-	-	-	-	3573	1	TROAP	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:49724075-49724085	G	ENSG00000135451	ENST00000551567	Transcript	downstream_gene_variant	-	-	-	-	-	-	4788	1	TROAP	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:49724075-49724085	G	ENSG00000135451	ENST00000550346	Transcript	downstream_gene_variant	-	-	-	-	-	-	2962	1	TROAP	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:49724075-49724085	G	ENSG00000135451	ENST00000547807	Transcript	downstream_gene_variant	-	-	-	-	-	-	2966	1	TROAP	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:50745782-50745822	AGTG	ENSG00000185958	ENST00000543096	Transcript	upstream_gene_variant	-	-	-	-	-	-	1115	-1	FAM186A	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:50745782-50745822	AGTG	ENSG00000185958	ENST00000327337	Transcript	feature_truncation	4793-4832	4793-4832	1598-1611	ELGIPLTPQQAQAQ/AL	gAACTGGGGATCCCTCTCACCCCTCAGCAGGCGCAGGCTCAg/gCACTg	-	-	-1	FAM186A	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000327337.5:c.4793_4832delAACTGGGGATCCCTCTCACCCCTCAGCAGGCGCAGGCTCAinsCACT	ENSP00000329995.5:p.Glu1598_Gln1611delinsAlaLeu	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:50745782-50745822	AGTG	ENSG00000185958	ENST00000543111	Transcript	feature_truncation	4931-4970	4793-4832	1598-1611	ELGIPLTPQQAQAQ/AL	gAACTGGGGATCCCTCTCACCCCTCAGCAGGCGCAGGCTCAg/gCACTg	-	-	-1	FAM186A	HGNC	26980	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000543111.1:c.4793_4832delAACTGGGGATCCCTCTCACCCCTCAGCAGGCGCAGGCTCAinsCACT	ENSP00000441337.1:p.Glu1598_Gln1611delinsAlaLeu	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:51620066-51620107	-	ENSG00000269339	ENST00000599633	Transcript	coding_sequence_variant,3_prime_UTR_variant,feature_truncation	39-?	39-?	13-?	-	-	-	-	1	AC139768.1	Clone_based_ensembl_gene	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:51620066-51620107	-	-	ENSR00000244075	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:51620068-51620104	-	ENSG00000269339	ENST00000599633	Transcript	coding_sequence_variant,3_prime_UTR_variant,feature_truncation	41-?	41-?	14-?	-	-	-	-	1	AC139768.1	Clone_based_ensembl_gene	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:51620068-51620104	-	-	ENSR00000244075	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:51620069-51620102	TT	ENSG00000269339	ENST00000599633	Transcript	coding_sequence_variant,3_prime_UTR_variant,feature_truncation	42-?	42-?	14-?	-	-	-	-	1	AC139768.1	Clone_based_ensembl_gene	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:51620069-51620102	TT	-	ENSR00000244075	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:51620069-51620102	TTTT	ENSG00000269339	ENST00000599633	Transcript	coding_sequence_variant,3_prime_UTR_variant,feature_truncation	42-?	42-?	14-?	-	-	-	-	1	AC139768.1	Clone_based_ensembl_gene	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:51620069-51620102	TTTT	-	ENSR00000244075	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:52844177-52844184	CTGAGTCCATTTCTCCTGTTTAA	ENSG00000185479	ENST00000252252	Transcript	splice_region_variant,intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	KRT6B	HGNC	6444	protein_coding	-	-	-	ENST00000252252.3:c.755+6_755+12delGACTCCAinsTTAAACAGGAGAAATGGACTCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:53162772-53162773	GCTGCTGCTG	ENSG00000185069	ENST00000332411	Transcript	inframe_insertion	1695	1641	547	S/SSSS	agT/agCAGCAGCAGC	rs1464423	-	-1	KRT76	HGNC	24430	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50324	ENST00000332411.2:c.1641delTinsCAGCAGCAGC	ENSP00000330101.2:p.Ser545_Ser547dup	A:0.1667	G:0.62	G:0.87	G:0.89	G:0.91	G:0.650333	G:0.875030	-	-	-	-	-	-
.	12:53162772	GCT	ENSG00000185069	ENST00000332411	Transcript	inframe_insertion	1695-1696	1641-1642	547-548	-/S	-/AGC	COSM245360	-	-1	KRT76	HGNC	24430	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50324	ENST00000332411.2:c.1641_1642insAGC	ENSP00000330101.2:p.Ser547dup	-	-	-	-	-	-	-	-	1	-	-	-	-
.	12:91363871-91363885	AC	ENSG00000083782	ENST00000551767	Transcript	downstream_gene_variant	-	-	-	-	-	-	1692	-1	EPYC	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:91363871-91363885	AC	ENSG00000083782	ENST00000261172	Transcript	feature_truncation	827-840	734-747	245-249	TDNNL/S	aCTGATAACAACTTG/aGT	-	-	-1	EPYC	HGNC	3053	protein_coding	-	-	SMART_domains:SM00369,Superfamily_domains:SSF52058	ENST00000261172.3:c.734_747delCTGATAACAACTTGinsGT	ENSP00000261172.3:p.Thr245_Leu249delinsSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:91363871-91363885	AC	ENSG00000083782	ENST00000550203	Transcript	downstream_gene_variant	-	-	-	-	-	-	2448	-1	EPYC	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036761-112036782	-	ENSG00000204842	ENST00000548492	Transcript	upstream_gene_variant	-	-	-	-	-	-	1151	-1	ATXN2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036761-112036782	-	ENSG00000204842	ENST00000542287	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	-	ENST00000542287.2:c.-65+597_-65+617delACAGCAGCAGCAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036761-112036782	-	ENSG00000204842	ENST00000535949	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	-	ENST00000535949.1:c.-28+597_-28+617delACAGCAGCAGCAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036761-112036782	-	ENSG00000204842	ENST00000392645	Transcript	upstream_gene_variant	-	-	-	-	-	-	392	-1	ATXN2	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036761-112036782	-	ENSG00000204842	ENST00000389153	Transcript	upstream_gene_variant	-	-	-	-	-	-	136	-1	ATXN2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036761-112036782	-	ENSG00000204842	ENST00000608853	Transcript	inframe_deletion	373-393	57-77	19-26	QQQQQQQQ/Q	caACAGCAGCAGCAGCAGCAGCAg/cag	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000608853.1:c.57_77delACAGCAGCAGCAGCAGCAGCA	ENSP00000476504.1:p.Gln20_Gln26del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036761-112036782	-	ENSG00000204842	ENST00000550104	Transcript	inframe_deletion	699-719	537-557	179-186	QQQQQQQQ/Q	caACAGCAGCAGCAGCAGCAGCAg/cag	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000550104.1:c.537_557delACAGCAGCAGCAGCAGCAGCA	ENSP00000446576.1:p.Gln180_Gln186del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036761-112036782	-	ENSG00000204842	ENST00000483311	Transcript	inframe_deletion,NMD_transcript_variant	299-319	300-320	100-107	QQQQQQQQ/Q	caACAGCAGCAGCAGCAGCAGCAg/cag	-	-	-1	ATXN2	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000483311.1:c.299_319delACAGCAGCAGCAGCAGCAGCA	ENSP00000446512.1:p.Gln101_Gln107del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036761-112036782	-	ENSG00000258099	ENST00000547021	Transcript	upstream_gene_variant	-	-	-	-	-	-	520	1	RP11-686G8.2	Clone_based_vega_gene	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036761-112036782	-	ENSG00000204842	ENST00000377617	Transcript	inframe_deletion	699-719	537-557	179-186	QQQQQQQQ/Q	caACAGCAGCAGCAGCAGCAGCAg/cag	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000377617.3:c.537_557delACAGCAGCAGCAGCAGCAGCA	ENSP00000366843.3:p.Gln180_Gln186del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036761-112036782	-	ENSG00000204842	ENST00000549455	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	85-105	-	-	-	-	-	-	-1	ATXN2	HGNC	-	processed_transcript	-	-	-	ENST00000549455.1:n.85_105delACAGCAGCAGCAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036761-112036782	-	-	ENSR00000174048	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036764-112036782	-	ENSG00000204842	ENST00000548492	Transcript	upstream_gene_variant	-	-	-	-	-	-	1154	-1	ATXN2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036764-112036782	-	ENSG00000204842	ENST00000542287	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	-	ENST00000542287.2:c.-65+597_-65+614delACAGCAGCAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036764-112036782	-	ENSG00000204842	ENST00000535949	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	-	ENST00000535949.1:c.-28+597_-28+614delACAGCAGCAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036764-112036782	-	ENSG00000204842	ENST00000392645	Transcript	upstream_gene_variant	-	-	-	-	-	-	395	-1	ATXN2	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036764-112036782	-	ENSG00000204842	ENST00000389153	Transcript	upstream_gene_variant	-	-	-	-	-	-	139	-1	ATXN2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036764-112036782	-	ENSG00000204842	ENST00000608853	Transcript	inframe_deletion	373-390	57-74	19-25	QQQQQQQ/Q	caACAGCAGCAGCAGCAGCAg/cag	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000608853.1:c.57_74delACAGCAGCAGCAGCAGCA	ENSP00000476504.1:p.Gln20_Gln25del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036764-112036782	-	ENSG00000204842	ENST00000550104	Transcript	inframe_deletion	699-716	537-554	179-185	QQQQQQQ/Q	caACAGCAGCAGCAGCAGCAg/cag	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000550104.1:c.537_554delACAGCAGCAGCAGCAGCA	ENSP00000446576.1:p.Gln180_Gln185del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036764-112036782	-	ENSG00000204842	ENST00000483311	Transcript	inframe_deletion,NMD_transcript_variant	299-316	300-317	100-106	QQQQQQQ/Q	caACAGCAGCAGCAGCAGCAg/cag	-	-	-1	ATXN2	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000483311.1:c.299_316delACAGCAGCAGCAGCAGCA	ENSP00000446512.1:p.Gln101_Gln106del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036764-112036782	-	ENSG00000258099	ENST00000547021	Transcript	upstream_gene_variant	-	-	-	-	-	-	520	1	RP11-686G8.2	Clone_based_vega_gene	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036764-112036782	-	ENSG00000204842	ENST00000377617	Transcript	inframe_deletion	699-716	537-554	179-185	QQQQQQQ/Q	caACAGCAGCAGCAGCAGCAg/cag	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000377617.3:c.537_554delACAGCAGCAGCAGCAGCA	ENSP00000366843.3:p.Gln180_Gln185del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036764-112036782	-	ENSG00000204842	ENST00000549455	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	85-102	-	-	-	-	-	-	-1	ATXN2	HGNC	-	processed_transcript	-	-	-	ENST00000549455.1:n.85_102delACAGCAGCAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036764-112036782	-	-	ENSR00000174048	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036770-112036782	-	ENSG00000204842	ENST00000548492	Transcript	upstream_gene_variant	-	-	-	-	-	-	1160	-1	ATXN2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036770-112036782	-	ENSG00000204842	ENST00000542287	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	-	ENST00000542287.2:c.-65+597_-65+608delACAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036770-112036782	-	ENSG00000204842	ENST00000535949	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	-	ENST00000535949.1:c.-28+597_-28+608delACAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036770-112036782	-	ENSG00000204842	ENST00000392645	Transcript	upstream_gene_variant	-	-	-	-	-	-	401	-1	ATXN2	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036770-112036782	-	ENSG00000204842	ENST00000389153	Transcript	upstream_gene_variant	-	-	-	-	-	-	145	-1	ATXN2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036770-112036782	-	ENSG00000204842	ENST00000608853	Transcript	inframe_deletion	373-384	57-68	19-23	QQQQQ/Q	caACAGCAGCAGCAg/cag	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000608853.1:c.57_68delACAGCAGCAGCA	ENSP00000476504.1:p.Gln20_Gln23del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036770-112036782	-	ENSG00000204842	ENST00000550104	Transcript	inframe_deletion	699-710	537-548	179-183	QQQQQ/Q	caACAGCAGCAGCAg/cag	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000550104.1:c.537_548delACAGCAGCAGCA	ENSP00000446576.1:p.Gln180_Gln183del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036770-112036782	-	ENSG00000204842	ENST00000483311	Transcript	inframe_deletion,NMD_transcript_variant	299-310	300-311	100-104	QQQQQ/Q	caACAGCAGCAGCAg/cag	-	-	-1	ATXN2	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000483311.1:c.299_310delACAGCAGCAGCA	ENSP00000446512.1:p.Gln101_Gln104del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036770-112036782	-	ENSG00000258099	ENST00000547021	Transcript	upstream_gene_variant	-	-	-	-	-	-	520	1	RP11-686G8.2	Clone_based_vega_gene	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036770-112036782	-	ENSG00000204842	ENST00000377617	Transcript	inframe_deletion	699-710	537-548	179-183	QQQQQ/Q	caACAGCAGCAGCAg/cag	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000377617.3:c.537_548delACAGCAGCAGCA	ENSP00000366843.3:p.Gln180_Gln183del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036770-112036782	-	ENSG00000204842	ENST00000549455	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	85-96	-	-	-	-	-	-	-1	ATXN2	HGNC	-	processed_transcript	-	-	-	ENST00000549455.1:n.85_96delACAGCAGCAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036770-112036782	-	-	ENSR00000174048	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036776-112036782	-	ENSG00000204842	ENST00000548492	Transcript	upstream_gene_variant	-	-	-	-	-	-	1166	-1	ATXN2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036776-112036782	-	ENSG00000204842	ENST00000542287	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	-	ENST00000542287.2:c.-65+597_-65+602delACAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036776-112036782	-	ENSG00000204842	ENST00000535949	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	-	ENST00000535949.1:c.-28+597_-28+602delACAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036776-112036782	-	ENSG00000204842	ENST00000392645	Transcript	upstream_gene_variant	-	-	-	-	-	-	407	-1	ATXN2	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036776-112036782	-	ENSG00000204842	ENST00000389153	Transcript	upstream_gene_variant	-	-	-	-	-	-	151	-1	ATXN2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036776-112036782	-	ENSG00000204842	ENST00000608853	Transcript	inframe_deletion	373-378	57-62	19-21	QQQ/Q	caACAGCAg/cag	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000608853.1:c.57_62delACAGCA	ENSP00000476504.1:p.Gln21_Gln22del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036776-112036782	-	ENSG00000204842	ENST00000550104	Transcript	inframe_deletion	699-704	537-542	179-181	QQQ/Q	caACAGCAg/cag	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000550104.1:c.537_542delACAGCA	ENSP00000446576.1:p.Gln181_Gln182del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036776-112036782	-	ENSG00000204842	ENST00000483311	Transcript	inframe_deletion,NMD_transcript_variant	299-304	300-305	100-102	QQQ/Q	caACAGCAg/cag	-	-	-1	ATXN2	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000483311.1:c.299_304delACAGCA	ENSP00000446512.1:p.Gln102_Gln103del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036776-112036782	-	ENSG00000258099	ENST00000547021	Transcript	upstream_gene_variant	-	-	-	-	-	-	520	1	RP11-686G8.2	Clone_based_vega_gene	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036776-112036782	-	ENSG00000204842	ENST00000377617	Transcript	inframe_deletion	699-704	537-542	179-181	QQQ/Q	caACAGCAg/cag	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000377617.3:c.537_542delACAGCA	ENSP00000366843.3:p.Gln181_Gln182del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036776-112036782	-	ENSG00000204842	ENST00000549455	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	85-90	-	-	-	-	-	-	-1	ATXN2	HGNC	-	processed_transcript	-	-	-	ENST00000549455.1:n.85_90delACAGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036776-112036782	-	-	ENSR00000174048	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGC	ENSG00000204842	ENST00000548492	Transcript	upstream_gene_variant	-	-	-	-	-	-	1168	-1	ATXN2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGC	ENSG00000204842	ENST00000542287	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	-	ENST00000542287.2:c.-65+597_-65+600delACAGinsGCAGCAGCAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGC	ENSG00000204842	ENST00000535949	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	-	ENST00000535949.1:c.-28+597_-28+600delACAGinsGCAGCAGCAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGC	ENSG00000204842	ENST00000392645	Transcript	upstream_gene_variant	-	-	-	-	-	-	409	-1	ATXN2	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGC	ENSG00000204842	ENST00000389153	Transcript	upstream_gene_variant	-	-	-	-	-	-	153	-1	ATXN2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGC	ENSG00000204842	ENST00000608853	Transcript	inframe_insertion	373-376	57-60	19-20	QQ/QQQQ	caACAG/caGCAGCAGCAA	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000608853.1:c.57_60delACAGinsGCAGCAGCAA	ENSP00000476504.1:p.Gln19_Gln20dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGC	ENSG00000204842	ENST00000550104	Transcript	inframe_insertion	699-702	537-540	179-180	QQ/QQQQ	caACAG/caGCAGCAGCAA	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000550104.1:c.537_540delACAGinsGCAGCAGCAA	ENSP00000446576.1:p.Gln179_Gln180dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGC	ENSG00000204842	ENST00000483311	Transcript	inframe_insertion,NMD_transcript_variant	299-302	300-303	100-101	QQ/QQQQ	caACAG/caGCAGCAGCAA	-	-	-1	ATXN2	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000483311.1:c.299_302delACAGinsGCAGCAGCAA	ENSP00000446512.1:p.Gln100_Gln101dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGC	ENSG00000258099	ENST00000547021	Transcript	upstream_gene_variant	-	-	-	-	-	-	520	1	RP11-686G8.2	Clone_based_vega_gene	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGC	ENSG00000204842	ENST00000377617	Transcript	inframe_insertion	699-702	537-540	179-180	QQ/QQQQ	caACAG/caGCAGCAGCAA	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000377617.3:c.537_540delACAGinsGCAGCAGCAA	ENSP00000366843.3:p.Gln179_Gln180dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGC	ENSG00000204842	ENST00000549455	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	85-88	-	-	-	-	-	-	-1	ATXN2	HGNC	-	processed_transcript	-	-	-	ENST00000549455.1:n.85_88delACAGinsGCAGCAGCAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGC	-	ENSR00000174048	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGCTGC	ENSG00000204842	ENST00000548492	Transcript	upstream_gene_variant	-	-	-	-	-	-	1168	-1	ATXN2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGCTGC	ENSG00000204842	ENST00000542287	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	-	ENST00000542287.2:c.-65+597_-65+600delACAGinsGCAGCAGCAGCAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGCTGC	ENSG00000204842	ENST00000535949	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	-	ENST00000535949.1:c.-28+597_-28+600delACAGinsGCAGCAGCAGCAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGCTGC	ENSG00000204842	ENST00000392645	Transcript	upstream_gene_variant	-	-	-	-	-	-	409	-1	ATXN2	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGCTGC	ENSG00000204842	ENST00000389153	Transcript	upstream_gene_variant	-	-	-	-	-	-	153	-1	ATXN2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGCTGC	ENSG00000204842	ENST00000608853	Transcript	inframe_insertion	373-376	57-60	19-20	QQ/QQQQQ	caACAG/caGCAGCAGCAGCAA	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000608853.1:c.57_60delACAGinsGCAGCAGCAGCAA	ENSP00000476504.1:p.Gln18_Gln20dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGCTGC	ENSG00000204842	ENST00000550104	Transcript	inframe_insertion	699-702	537-540	179-180	QQ/QQQQQ	caACAG/caGCAGCAGCAGCAA	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000550104.1:c.537_540delACAGinsGCAGCAGCAGCAA	ENSP00000446576.1:p.Gln178_Gln180dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGCTGC	ENSG00000204842	ENST00000483311	Transcript	inframe_insertion,NMD_transcript_variant	299-302	300-303	100-101	QQ/QQQQQ	caACAG/caGCAGCAGCAGCAA	-	-	-1	ATXN2	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000483311.1:c.299_302delACAGinsGCAGCAGCAGCAA	ENSP00000446512.1:p.Gln99_Gln101dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGCTGC	ENSG00000258099	ENST00000547021	Transcript	upstream_gene_variant	-	-	-	-	-	-	520	1	RP11-686G8.2	Clone_based_vega_gene	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGCTGC	ENSG00000204842	ENST00000377617	Transcript	inframe_insertion	699-702	537-540	179-180	QQ/QQQQQ	caACAG/caGCAGCAGCAGCAA	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000377617.3:c.537_540delACAGinsGCAGCAGCAGCAA	ENSP00000366843.3:p.Gln178_Gln180dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGCTGC	ENSG00000204842	ENST00000549455	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	85-88	-	-	-	-	-	-	-1	ATXN2	HGNC	-	processed_transcript	-	-	-	ENST00000549455.1:n.85_88delACAGinsGCAGCAGCAGCAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGCTGC	-	ENSR00000174048	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000204842	ENST00000548492	Transcript	upstream_gene_variant	-	-	-	-	-	-	1168	-1	ATXN2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000204842	ENST00000542287	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	-	ENST00000542287.2:c.-65+597_-65+600delACAGinsGCAGCAGCAGCAGCAGCAGCAGCAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000204842	ENST00000535949	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	-	ENST00000535949.1:c.-28+597_-28+600delACAGinsGCAGCAGCAGCAGCAGCAGCAGCAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000204842	ENST00000392645	Transcript	upstream_gene_variant	-	-	-	-	-	-	409	-1	ATXN2	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000204842	ENST00000389153	Transcript	upstream_gene_variant	-	-	-	-	-	-	153	-1	ATXN2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000204842	ENST00000608853	Transcript	inframe_insertion	373-376	57-60	19-20	QQ/QQQQQQQQQ	caACAG/caGCAGCAGCAGCAGCAGCAGCAGCAA	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000608853.1:c.57_60delACAGinsGCAGCAGCAGCAGCAGCAGCAGCAA	ENSP00000476504.1:p.Gln14_Gln20dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000204842	ENST00000550104	Transcript	inframe_insertion	699-702	537-540	179-180	QQ/QQQQQQQQQ	caACAG/caGCAGCAGCAGCAGCAGCAGCAGCAA	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000550104.1:c.537_540delACAGinsGCAGCAGCAGCAGCAGCAGCAGCAA	ENSP00000446576.1:p.Gln174_Gln180dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000204842	ENST00000483311	Transcript	inframe_insertion,NMD_transcript_variant	299-302	300-303	100-101	QQ/QQQQQQQQQ	caACAG/caGCAGCAGCAGCAGCAGCAGCAGCAA	-	-	-1	ATXN2	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000483311.1:c.299_302delACAGinsGCAGCAGCAGCAGCAGCAGCAGCAA	ENSP00000446512.1:p.Gln95_Gln101dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000258099	ENST00000547021	Transcript	upstream_gene_variant	-	-	-	-	-	-	520	1	RP11-686G8.2	Clone_based_vega_gene	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000204842	ENST00000377617	Transcript	inframe_insertion	699-702	537-540	179-180	QQ/QQQQQQQQQ	caACAG/caGCAGCAGCAGCAGCAGCAGCAGCAA	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000377617.3:c.537_540delACAGinsGCAGCAGCAGCAGCAGCAGCAGCAA	ENSP00000366843.3:p.Gln174_Gln180dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000204842	ENST00000549455	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	85-88	-	-	-	-	-	-	-1	ATXN2	HGNC	-	processed_transcript	-	-	-	ENST00000549455.1:n.85_88delACAGinsGCAGCAGCAGCAGCAGCAGCAGCAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036782	TTGCTGCTGCTGCTGCTGCTGCTGC	-	ENSR00000174048	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036791	T	ENSG00000204842	ENST00000548492	Transcript	upstream_gene_variant	-	-	-	-	-	-	1168	-1	ATXN2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036791	T	ENSG00000204842	ENST00000542287	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	-	ENST00000542287.2:c.-65+588_-65+600delGCAGCAGCAACAGinsA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036791	T	ENSG00000204842	ENST00000535949	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	-	ENST00000535949.1:c.-28+588_-28+600delGCAGCAGCAACAGinsA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036791	T	ENSG00000204842	ENST00000392645	Transcript	upstream_gene_variant	-	-	-	-	-	-	409	-1	ATXN2	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036791	T	ENSG00000204842	ENST00000389153	Transcript	upstream_gene_variant	-	-	-	-	-	-	153	-1	ATXN2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036791	T	ENSG00000204842	ENST00000608853	Transcript	feature_truncation	364-376	48-60	16-20	QQQQQ/Q	caGCAGCAGCAACAG/caA	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000608853.1:c.48_60delGCAGCAGCAACAGinsA	ENSP00000476504.1:p.Gln17_Gln20del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036791	T	ENSG00000204842	ENST00000550104	Transcript	feature_truncation	690-702	528-540	176-180	QQQQQ/Q	caGCAGCAGCAACAG/caA	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000550104.1:c.528_540delGCAGCAGCAACAGinsA	ENSP00000446576.1:p.Gln177_Gln180del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036791	T	ENSG00000204842	ENST00000483311	Transcript	NMD_transcript_variant,feature_truncation	290-302	291-303	97-101	QQQQQ/Q	caGCAGCAGCAACAG/caA	-	-	-1	ATXN2	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000483311.1:c.290_302delGCAGCAGCAACAGinsA	ENSP00000446512.1:p.Gln98_Gln101del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036791	T	ENSG00000258099	ENST00000547021	Transcript	upstream_gene_variant	-	-	-	-	-	-	511	1	RP11-686G8.2	Clone_based_vega_gene	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036791	T	ENSG00000204842	ENST00000377617	Transcript	feature_truncation	690-702	528-540	176-180	QQQQQ/Q	caGCAGCAGCAACAG/caA	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000377617.3:c.528_540delGCAGCAGCAACAGinsA	ENSP00000366843.3:p.Gln177_Gln180del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036791	T	ENSG00000204842	ENST00000549455	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	76-88	-	-	-	-	-	-	-1	ATXN2	HGNC	-	processed_transcript	-	-	-	ENST00000549455.1:n.76_88delGCAGCAGCAACAGinsA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036791	T	-	ENSR00000174048	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036797	T	ENSG00000204842	ENST00000548492	Transcript	upstream_gene_variant	-	-	-	-	-	-	1168	-1	ATXN2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036797	T	ENSG00000204842	ENST00000542287	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	-	ENST00000542287.2:c.-65+582_-65+600delGCAGCAGCAGCAGCAACAGinsA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036797	T	ENSG00000204842	ENST00000535949	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	-	ENST00000535949.1:c.-28+582_-28+600delGCAGCAGCAGCAGCAACAGinsA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036797	T	ENSG00000204842	ENST00000392645	Transcript	upstream_gene_variant	-	-	-	-	-	-	409	-1	ATXN2	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036797	T	ENSG00000204842	ENST00000389153	Transcript	upstream_gene_variant	-	-	-	-	-	-	153	-1	ATXN2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036797	T	ENSG00000204842	ENST00000608853	Transcript	feature_truncation	358-376	42-60	14-20	QQQQQQQ/Q	caGCAGCAGCAGCAGCAACAG/caA	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000608853.1:c.42_60delGCAGCAGCAGCAGCAACAGinsA	ENSP00000476504.1:p.Gln15_Gln20del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036797	T	ENSG00000204842	ENST00000550104	Transcript	feature_truncation	684-702	522-540	174-180	QQQQQQQ/Q	caGCAGCAGCAGCAGCAACAG/caA	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000550104.1:c.522_540delGCAGCAGCAGCAGCAACAGinsA	ENSP00000446576.1:p.Gln175_Gln180del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036797	T	ENSG00000204842	ENST00000483311	Transcript	NMD_transcript_variant,feature_truncation	284-302	285-303	95-101	QQQQQQQ/Q	caGCAGCAGCAGCAGCAACAG/caA	-	-	-1	ATXN2	HGNC	-	nonsense_mediated_decay	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000483311.1:c.284_302delGCAGCAGCAGCAGCAACAGinsA	ENSP00000446512.1:p.Gln96_Gln101del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036797	T	ENSG00000258099	ENST00000547021	Transcript	upstream_gene_variant	-	-	-	-	-	-	505	1	RP11-686G8.2	Clone_based_vega_gene	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036797	T	ENSG00000204842	ENST00000377617	Transcript	feature_truncation	684-702	522-540	174-180	QQQQQQQ/Q	caGCAGCAGCAGCAGCAACAG/caA	-	-	-1	ATXN2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Coiled-coils_(Ncoils):ncoils,PROSITE_profiles:PS50322	ENST00000377617.3:c.522_540delGCAGCAGCAGCAGCAACAGinsA	ENSP00000366843.3:p.Gln175_Gln180del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036797	T	ENSG00000204842	ENST00000549455	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	70-88	-	-	-	-	-	-	-1	ATXN2	HGNC	-	processed_transcript	-	-	-	ENST00000549455.1:n.70_88delGCAGCAGCAGCAGCAACAGinsA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:112036778-112036797	T	-	ENSR00000174048	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:132547089-132547093	GCAACAGCAG	ENSG00000183495	ENST00000389562	Transcript	inframe_insertion	8284-8287	8175-8178	2725-2726	QQ/QQQQ	caACAA/caGCAACAGCAG	-	-	1	EP400	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000389562.2:c.8175_8178delACAAinsGCAACAGCAG	ENSP00000374213.2:p.Gln2725_Gln2726dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:132547089-132547093	GCAACAGCAG	ENSG00000183495	ENST00000332482	Transcript	inframe_insertion	8176-8179	8067-8070	2689-2690	QQ/QQQQ	caACAA/caGCAACAGCAG	-	-	1	EP400	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000332482.4:c.8067_8070delACAAinsGCAACAGCAG	ENSP00000331737.4:p.Gln2689_Gln2690dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:132547089-132547093	GCAACAGCAG	ENSG00000183495	ENST00000389561	Transcript	inframe_insertion	8287-8290	8178-8181	2726-2727	QQ/QQQQ	caACAA/caGCAACAGCAG	-	-	1	EP400	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000389561.2:c.8178_8181delACAAinsGCAACAGCAG	ENSP00000374212.2:p.Gln2726_Gln2727dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:132547089-132547093	GCAACAGCAG	ENSG00000183495	ENST00000333577	Transcript	inframe_insertion	8395-8398	8286-8289	2762-2763	QQ/QQQQ	caACAA/caGCAACAGCAG	-	-	1	EP400	HGNC	11958	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000333577.4:c.8286_8289delACAAinsGCAACAGCAG	ENSP00000333602.4:p.Gln2762_Gln2763dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	12:132547089-132547093	GCAACAGCAG	ENSG00000183495	ENST00000330386	Transcript	inframe_insertion	8044-8047	7935-7938	2645-2646	QQ/QQQQ	caACAA/caGCAACAGCAG	-	-	1	EP400	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000330386.6:c.7935_7938delACAAinsGCAACAGCAG	ENSP00000330620.6:p.Gln2645_Gln2646dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	13:41086958-41086970	CATTTAAGCAGGAA	-	-	-	intergenic_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	13:70681597-70681598	CGAAGAGGAAGAGGACGGGGAGGACGAC	ENSG00000230223	ENST00000424524	Transcript	upstream_gene_variant	-	-	-	-	-	rs3751427	446	1	ATXN8OS	HGNC	-	antisense	-	-	-	-	-	C:0.1795	C:0.24	C:0.10	C:0.32	C:0.07	C:0.211984	C:0.056047	-	-	-	-	-	-
.	13:70681597-70681598	CGAAGAGGAAGAGGACGGGGAGGACGAC	ENSG00000150361	ENST00000545028	Transcript	5_prime_UTR_variant,feature_elongation	217	-	-	-	-	rs3751427	-	-1	KLHL1	HGNC	-	protein_coding	-	-	-	ENST00000545028.1:c.-163delAinsGTCGTCCTCCCCGTCCTCTTCCTCTTCG	-	C:0.1795	C:0.24	C:0.10	C:0.32	C:0.07	C:0.211984	C:0.056047	-	-	-	-	-	-
.	13:70681597-70681598	CGAAGAGGAAGAGGACGGGGAGGACGAC	ENSG00000150361	ENST00000377844	Transcript	inframe_insertion	994	234	78	S/SSSSPSSSSS	tcA/tcGTCGTCCTCCCCGTCCTCTTCCTCTTCG	rs3751427	-	-1	KLHL1	HGNC	6352	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50324	ENST00000377844.4:c.234delAinsGTCGTCCTCCCCGTCCTCTTCCTCTTCG	ENSP00000367075.4:p.Ser78_Ser79insSerSerSerProSerSerSerSerSer	C:0.1795	C:0.24	C:0.10	C:0.32	C:0.07	C:0.211984	C:0.056047	-	-	-	-	-	-
.	13:70681597-70681598	CGAAGAGGAAGAGGACGGGGAGGACGAC	ENSG00000230223	ENST00000414504	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	254	-	-	-	-	rs3751427	-	1	ATXN8OS	HGNC	10561	antisense	-	-	-	ENST00000414504.2:n.254delTinsCGAAGAGGAAGAGGACGGGGAGGACGAC	-	C:0.1795	C:0.24	C:0.10	C:0.32	C:0.07	C:0.211984	C:0.056047	-	-	-	-	-	-
.	13:100622666-100622667	CGGCGGCGGC	ENSG00000139800	ENST00000267294	Transcript	inframe_insertion	1497	1263	421	P/PPPP	ccA/ccGCCGCCGCCG	-	-	-1	ZIC5	HGNC	20322	protein_coding	-	-	Low_complexity_(Seg):Seg,Prints_domain:PR01217,PROSITE_profiles:PS50099	ENST00000267294.4:c.1263delAinsGCCGCCGCCG	ENSP00000267294.3:p.Pro419_Pro421dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	13:100622666-100622667	CGGCGGCGGC	-	ENSR00000151599	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	13:108518714-108518727	TGCC	ENSG00000204442	ENST00000375915	Transcript	feature_truncation	357-369	218-230	73-77	QQQQR/RQ	cAGCAGCAGCAGCGg/cGGCAg	-	-	-1	FAM155A	HGNC	33877	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000375915.2:c.218_230delAGCAGCAGCAGCGinsGGCA	ENSP00000365080.1:p.Gln73_Arg77delinsArgGln	-	-	-	-	-	-	-	-	-	-	-	-	-
.	13:108518714-108518727	TGCC	-	ENSR00000056948	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:22476137-22476141	-	ENSG00000211798	ENST00000390446	Transcript	downstream_gene_variant	-	-	-	-	-	rs377381134,TMP_ESP_14_22476138_22476141	4226	1	TRAV18	HGNC	12114	TR_V_gene	-	-	-	-	-	-	-	-	-	-	-:0.064722	-:0.091881	-	-	-	-	-	-
.	14:22476137-22476141	-	ENSG00000258705	ENST00000553572	Transcript	upstream_gene_variant	-	-	-	-	-	rs377381134,TMP_ESP_14_22476138_22476141	4008	1	AE000660.4	Clone_based_vega_gene	-	processed_pseudogene	-	-	-	-	-	-	-	-	-	-	-:0.064722	-:0.091881	-	-	-	-	-	-
.	14:22476137-22476141	-	ENSG00000211799	ENST00000390447	Transcript	frameshift_variant,feature_truncation	185-188	68-71	23-24	-	-	rs377381134,TMP_ESP_14_22476138_22476141	-	1	TRAV19	HGNC	12115	TR_V_gene	-	-	Pfam_domain:PF07686,PROSITE_profiles:PS50835,Superfamily_domains:SSF48726	ENST00000390447.3:c.68_71delAGGT	ENSP00000452148.1:p.Val24LeufsTer15	-	-	-	-	-	-:0.064722	-:0.091881	-	-	-	-	-	-
.	14:22476138-22476147	ATTTC	ENSG00000211798	ENST00000390446	Transcript	downstream_gene_variant	-	-	-	-	-	-	4227	1	TRAV18	HGNC	12114	TR_V_gene	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:22476138-22476147	ATTTC	ENSG00000258705	ENST00000553572	Transcript	upstream_gene_variant	-	-	-	-	-	-	4002	1	AE000660.4	Clone_based_vega_gene	-	processed_pseudogene	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:22476138-22476147	ATTTC	ENSG00000211799	ENST00000390447	Transcript	frameshift_variant,feature_truncation	186-194	69-77	23-26	-	-	-	-	1	TRAV19	HGNC	12115	TR_V_gene	-	-	Pfam_domain:PF07686,PROSITE_profiles:PS50835,Superfamily_domains:SSF48726	ENST00000390447.3:c.69_77delGGTAACTCAinsATTTC	ENSP00000452148.1:p.Val24PhefsTer15	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:24727782-24727790	AT	ENSG00000092295	ENST00000558074	Transcript	downstream_gene_variant	-	-	-	-	-	-	3214	-1	TGM1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:24727782-24727790	AT	ENSG00000092295	ENST00000560226	Transcript	downstream_gene_variant	-	-	-	-	-	-	3643	-1	TGM1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:24727782-24727790	AT	ENSG00000092295	ENST00000544573	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	TGM1	HGNC	-	protein_coding	-	-	-	ENST00000544573.1:c.-28-196_-28-189delTTCGACGAinsAT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:24727782-24727790	AT	ENSG00000092295	ENST00000560443	Transcript	downstream_gene_variant	-	-	-	-	-	-	3575	-1	TGM1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:24727782-24727790	AT	ENSG00000092295	ENST00000559669	Transcript	upstream_gene_variant	-	-	-	-	-	-	3521	-1	TGM1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:24727782-24727790	AT	ENSG00000092295	ENST00000206765	Transcript	feature_truncation	1373-1380	1249-1256	417-419	FDE/M	TTCGACGAg/ATg	-	-	-1	TGM1	HGNC	11777	protein_coding	-	-	Pfam_domain:PF01841,SMART_domains:SM00460,Superfamily_domains:SSF54001	ENST00000206765.6:c.1249_1256delTTCGACGAinsAT	ENSP00000206765.6:p.Phe417_Glu419delinsMet	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:24727782-24727790	AT	ENSG00000092295	ENST00000560478	Transcript	downstream_gene_variant	-	-	-	-	-	-	3618	-1	TGM1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:24727782-24727790	AT	ENSG00000092295	ENST00000561067	Transcript	downstream_gene_variant	-	-	-	-	-	-	3741	-1	TGM1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:24727782-24727790	AT	ENSG00000092295	ENST00000559136	Transcript	feature_truncation	592-599	322-329	108-110	FDE/M	TTCGACGAg/ATg	-	-	-1	TGM1	HGNC	-	protein_coding	-	-	Pfam_domain:PF01841,SMART_domains:SM00460,Superfamily_domains:SSF54001	ENST00000559136.1:c.322_329delTTCGACGAinsAT	ENSP00000453337.1:p.Phe108_Glu110delinsMet	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:60451931-60451951	GAAC	ENSG00000131951	ENST00000445360	Transcript	splice_donor_variant,coding_sequence_variant,intron_variant,feature_truncation	2405-?	2201-?	734-?	-	-	-	-	1	LRRC9	HGNC	19848	protein_coding	-	-	-	ENST00000445360.1:c.2201_2211+9delTATACCACTTGGTAAGAATTinsGAAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:60451931-60451951	GAAC	ENSG00000258553	ENST00000555432	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	-1	RP11-16B13.1	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000555432.1:n.154-11720_154-11701delAATTCTTACCAAGTGGTATAinsGTTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:60451931-60451951	GAAC	ENSG00000131951	ENST00000254271	Transcript	splice_donor_variant,coding_sequence_variant,intron_variant,NMD_transcript_variant,feature_truncation	2405-?	2201-?	734-?	-	-	-	-	1	LRRC9	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000254271.4:c.2201_2211+9delTATACCACTTGGTAAGAATTinsGAAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:60451931-60451951	GAAC	ENSG00000258553	ENST00000554123	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	-1	RP11-16B13.1	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000554123.1:n.165-11720_165-11701delAATTCTTACCAAGTGGTATAinsGTTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:77493853-77493875	C	ENSG00000119669	ENST00000238647	Transcript	feature_truncation	1160-1181	261-282	87-94	EAAAAAAA/E	gaAGCGGCGGCGGCGGCGGCAGCA/gaG	-	-	-1	IRF2BPL	HGNC	14282	protein_coding	-	-	Low_complexity_(Seg):Seg,Pfam_domain:PF11261,PROSITE_profiles:PS50310	ENST00000238647.3:c.261_282delAGCGGCGGCGGCGGCGGCAGCAinsG	ENSP00000238647.3:p.Ala88_Ala94del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:77493853-77493875	C	-	ENSR00000421283	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:77493874-77493875	CGCCGCCGCC	ENSG00000119669	ENST00000238647	Transcript	inframe_insertion	1160	261	87	E/EAAA	gaA/gaGGCGGCGGCG	rs71428775	-	-1	IRF2BPL	HGNC	14282	protein_coding	-	-	Pfam_domain:PF11261,PROSITE_profiles:PS50310	ENST00000238647.3:c.261delAinsGGCGGCGGCG	ENSP00000238647.3:p.Glu87_Ala88insAlaAlaAla	C:0.4371	C:0.13	C:0.40	C:0.55	C:0.56	-	-	-	-	-	-	-	-
.	14:77493874-77493875	CGCCGCCGCC	-	ENSR00000421283	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs71428775	-	-	-	-	-	-	-	-	-	-	-	C:0.4371	C:0.13	C:0.40	C:0.55	C:0.56	-	-	-	-	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556374	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	1011	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556374.1:c.*644delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556374	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	1011	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556374.1:c.*644delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000545170	Transcript	inframe_insertion	1012	943	315	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000545170.1:c.943delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000445618.1:p.Gly315delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000545170	Transcript	inframe_insertion	1012	943	315	G/QQQQQQQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000545170.1:c.943delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000445618.1:p.Gln314_Gly315insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556288	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	829	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556288.1:c.*567delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556288	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	829	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556288.1:c.*567delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000557311	Transcript	inframe_insertion	487	379	127	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000557311.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450642.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000557311	Transcript	inframe_insertion	487	379	127	G/QQQQQQQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000557311.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000450642.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556644	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	300	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556644.1:n.300delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556644	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	300	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556644.1:n.300delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000429774	Transcript	inframe_insertion	964	895	299	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000429774.2:c.895delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000389376.2:p.Gly299delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000429774	Transcript	inframe_insertion	964	895	299	G/QQQQQQQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000429774.2:c.895delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000389376.2:p.Gln298_Gly299insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556220	Transcript	inframe_insertion	620	598	200	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000556220.1:c.598delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450641.1:p.Gly200delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556220	Transcript	inframe_insertion	620	598	200	G/QQQQQQQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000556220.1:c.598delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000450641.1:p.Gln199_Gly200insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554994	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	850	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554994.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554994	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	850	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554994.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554592	Transcript	inframe_insertion	935	913	305	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554592.1:c.913delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451385.1:p.Gly305delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554592	Transcript	inframe_insertion	935	913	305	G/QQQQQQQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554592.1:c.913delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000451385.1:p.Gln304_Gly305insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553491	Transcript	inframe_insertion	785	763	255	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000553491.1:c.763delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451996.1:p.Gly255delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553491	Transcript	inframe_insertion	785	763	255	G/QQQQQQQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000553491.1:c.763delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000451996.1:p.Gln254_Gly255insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000557030	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	735	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000557030.1:c.*111delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000557030	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	735	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000557030.1:c.*111delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555381	Transcript	inframe_insertion	728	706	236	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000555381.1:c.706delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451001.1:p.Gly236delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555381	Transcript	inframe_insertion	728	706	236	G/QQQQQQQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000555381.1:c.706delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000451001.1:p.Gln235_Gly236insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556898	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	915	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556898.1:c.*413delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556898	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	915	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556898.1:c.*413delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553686	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	797	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553686.1:n.797delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553686	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	797	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553686.1:n.797delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000359366	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	868	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000359366.5:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000359366	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	868	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000359366.5:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554040	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	520	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554040.1:n.520delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554040	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	520	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554040.1:n.520delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000526245	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	7106	processed_transcript	-	-	-	ENST00000526245.1:n.117-12223delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000526245	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	7106	processed_transcript	-	-	-	ENST00000526245.1:n.117-12223delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555816	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555816.1:c.*423delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555816	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555816.1:c.*423delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556082	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	588	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556082.1:c.*326delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556082	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	588	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556082.1:c.*326delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553570	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553570.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553570	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553570.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000340660	Transcript	inframe_insertion	809	751	251	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000340660.6:c.751delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000339110.6:p.Gly251delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000340660	Transcript	inframe_insertion	809	751	251	G/QQQQQQQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000340660.6:c.751delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000339110.6:p.Gln250_Gly251insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553488	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	993	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553488.1:c.*731delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553488	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	993	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553488.1:c.*731delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553309	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	950	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553309.1:n.950delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553309	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	950	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553309.1:n.950delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556274	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	841	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556274.1:c.*579delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556274	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	841	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556274.1:c.*579delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554672	Transcript	inframe_insertion	684	622	208	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554672.1:c.622delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451417.1:p.Gly208delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554672	Transcript	inframe_insertion	684	622	208	G/QQQQQQQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554672.1:c.622delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000451417.1:p.Gln207_Gly208insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555958	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	785	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000555958.1:n.785delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555958	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	785	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000555958.1:n.785delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000393287	Transcript	inframe_insertion	974	916	306	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000393287.5:c.916delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000376965.5:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000393287	Transcript	inframe_insertion	974	916	306	G/QQQQQQQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000393287.5:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000376965.5:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556671	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556671.1:c.*494delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556671	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556671.1:c.*494delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000503767	Transcript	inframe_insertion	919	871	291	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000503767.1:c.871delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000426697.1:p.Gly291delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000503767	Transcript	inframe_insertion	919	871	291	G/QQQQQQQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000503767.1:c.871delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000426697.1:p.Gln290_Gly291insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554214	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	699	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554214.1:n.699delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554214	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	699	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554214.1:n.699delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556315	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556315.1:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556315	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556315.1:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556339	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	453	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556339.1:n.453delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556339	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	453	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556339.1:n.453delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000532032	Transcript	inframe_insertion	926	916	306	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000532032.1:c.916delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000437157.1:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000532032	Transcript	inframe_insertion	926	916	306	G/QQQQQQQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000532032.1:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000437157.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554491	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	992	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554491.1:n.992delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554491	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	992	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554491.1:n.992delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553498	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	839	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553498.1:n.839delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553498	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	839	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553498.1:n.839delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556958	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	697	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556958.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556958	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	697	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556958.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000502250	Transcript	inframe_insertion	650	379	127	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000502250.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000425322.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000502250	Transcript	inframe_insertion	650	379	127	G/QQQQQQQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000502250.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000425322.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553287	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	654	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553287.1:n.654delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553287	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	654	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553287.1:n.654delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554350	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	871	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554350.1:c.*516delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554350	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	871	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554350.1:c.*516delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556374	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	1011	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556374.1:c.*644delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556374	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	1011	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556374.1:c.*644delGinsCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000545170	Transcript	inframe_insertion	1012	943	315	G/EQQQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000545170.1:c.943delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000445618.1:p.Gly315delinsGluGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000545170	Transcript	inframe_insertion	1012	943	315	G/QQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000545170.1:c.943delGinsCAGCAGCAGCAGCAGCAGC	ENSP00000445618.1:p.Gly315delinsGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556288	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	829	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556288.1:c.*567delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556288	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	829	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556288.1:c.*567delGinsCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000557311	Transcript	inframe_insertion	487	379	127	G/EQQQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000557311.1:c.379delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450642.1:p.Gly127delinsGluGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000557311	Transcript	inframe_insertion	487	379	127	G/QQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000557311.1:c.379delGinsCAGCAGCAGCAGCAGCAGC	ENSP00000450642.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556644	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	300	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556644.1:n.300delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556644	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	300	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556644.1:n.300delGinsCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000429774	Transcript	inframe_insertion	964	895	299	G/EQQQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000429774.2:c.895delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000389376.2:p.Gly299delinsGluGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000429774	Transcript	inframe_insertion	964	895	299	G/QQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000429774.2:c.895delGinsCAGCAGCAGCAGCAGCAGC	ENSP00000389376.2:p.Gly299delinsGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556220	Transcript	inframe_insertion	620	598	200	G/EQQQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000556220.1:c.598delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450641.1:p.Gly200delinsGluGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556220	Transcript	inframe_insertion	620	598	200	G/QQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000556220.1:c.598delGinsCAGCAGCAGCAGCAGCAGC	ENSP00000450641.1:p.Gly200delinsGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000554994	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	850	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554994.1:c.*375delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554994	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	850	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554994.1:c.*375delGinsCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000554592	Transcript	inframe_insertion	935	913	305	G/EQQQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554592.1:c.913delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451385.1:p.Gly305delinsGluGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554592	Transcript	inframe_insertion	935	913	305	G/QQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554592.1:c.913delGinsCAGCAGCAGCAGCAGCAGC	ENSP00000451385.1:p.Gly305delinsGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000553491	Transcript	inframe_insertion	785	763	255	G/EQQQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000553491.1:c.763delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451996.1:p.Gly255delinsGluGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553491	Transcript	inframe_insertion	785	763	255	G/QQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000553491.1:c.763delGinsCAGCAGCAGCAGCAGCAGC	ENSP00000451996.1:p.Gly255delinsGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000557030	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	735	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000557030.1:c.*111delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000557030	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	735	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000557030.1:c.*111delGinsCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000555381	Transcript	inframe_insertion	728	706	236	G/EQQQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000555381.1:c.706delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451001.1:p.Gly236delinsGluGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555381	Transcript	inframe_insertion	728	706	236	G/QQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000555381.1:c.706delGinsCAGCAGCAGCAGCAGCAGC	ENSP00000451001.1:p.Gly236delinsGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556898	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	915	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556898.1:c.*413delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556898	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	915	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556898.1:c.*413delGinsCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000553686	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	797	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553686.1:n.797delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553686	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	797	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553686.1:n.797delGinsCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000359366	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	868	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000359366.5:c.*590delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000359366	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	868	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000359366.5:c.*590delGinsCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000554040	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	520	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554040.1:n.520delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554040	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	520	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554040.1:n.520delGinsCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000526245	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	7106	processed_transcript	-	-	-	ENST00000526245.1:n.117-12223delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000526245	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	7106	processed_transcript	-	-	-	ENST00000526245.1:n.117-12223delGinsCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000555816	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555816.1:c.*423delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555816	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555816.1:c.*423delGinsCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556082	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	588	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556082.1:c.*326delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556082	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	588	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556082.1:c.*326delGinsCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000553570	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553570.1:c.*375delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553570	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553570.1:c.*375delGinsCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000340660	Transcript	inframe_insertion	809	751	251	G/EQQQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000340660.6:c.751delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000339110.6:p.Gly251delinsGluGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000340660	Transcript	inframe_insertion	809	751	251	G/QQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000340660.6:c.751delGinsCAGCAGCAGCAGCAGCAGC	ENSP00000339110.6:p.Gly251delinsGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000553488	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	993	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553488.1:c.*731delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553488	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	993	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553488.1:c.*731delGinsCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000553309	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	950	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553309.1:n.950delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553309	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	950	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553309.1:n.950delGinsCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556274	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	841	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556274.1:c.*579delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556274	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	841	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556274.1:c.*579delGinsCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000554672	Transcript	inframe_insertion	684	622	208	G/EQQQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554672.1:c.622delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451417.1:p.Gly208delinsGluGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554672	Transcript	inframe_insertion	684	622	208	G/QQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554672.1:c.622delGinsCAGCAGCAGCAGCAGCAGC	ENSP00000451417.1:p.Gly208delinsGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000555958	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	785	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000555958.1:n.785delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555958	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	785	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000555958.1:n.785delGinsCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000393287	Transcript	inframe_insertion	974	916	306	G/EQQQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000393287.5:c.916delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000376965.5:p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000393287	Transcript	inframe_insertion	974	916	306	G/QQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000393287.5:c.916delGinsCAGCAGCAGCAGCAGCAGC	ENSP00000376965.5:p.Gly306delinsGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556671	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556671.1:c.*494delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556671	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556671.1:c.*494delGinsCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000503767	Transcript	inframe_insertion	919	871	291	G/EQQQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000503767.1:c.871delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000426697.1:p.Gly291delinsGluGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000503767	Transcript	inframe_insertion	919	871	291	G/QQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000503767.1:c.871delGinsCAGCAGCAGCAGCAGCAGC	ENSP00000426697.1:p.Gly291delinsGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000554214	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	699	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554214.1:n.699delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554214	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	699	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554214.1:n.699delGinsCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556315	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556315.1:c.*590delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556315	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556315.1:c.*590delGinsCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556339	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	453	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556339.1:n.453delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556339	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	453	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556339.1:n.453delGinsCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000532032	Transcript	inframe_insertion	926	916	306	G/EQQQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000532032.1:c.916delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000437157.1:p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000532032	Transcript	inframe_insertion	926	916	306	G/QQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000532032.1:c.916delGinsCAGCAGCAGCAGCAGCAGC	ENSP00000437157.1:p.Gly306delinsGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000554491	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	992	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554491.1:n.992delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554491	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	992	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554491.1:n.992delGinsCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000553498	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	839	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553498.1:n.839delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553498	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	839	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553498.1:n.839delGinsCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556958	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	697	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556958.1:c.*375delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556958	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	697	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556958.1:c.*375delGinsCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000502250	Transcript	inframe_insertion	650	379	127	G/EQQQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000502250.1:c.379delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000425322.1:p.Gly127delinsGluGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000502250	Transcript	inframe_insertion	650	379	127	G/QQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000502250.1:c.379delGinsCAGCAGCAGCAGCAGCAGC	ENSP00000425322.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000553287	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	654	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553287.1:n.654delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553287	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	654	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553287.1:n.654delGinsCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000554350	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	871	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554350.1:c.*516delGinsGAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554350	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	871	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554350.1:c.*516delGinsCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556374	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	1011	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556374.1:c.*644delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000556374	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	1011	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556374.1:c.*644delGinsCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000545170	Transcript	inframe_insertion	1012	943	315	G/QQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000545170.1:c.943delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000445618.1:p.Gly315delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000545170	Transcript	inframe_insertion	1012	943	315	G/QQQQG	Ggg/CAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000545170.1:c.943delGinsCAGCAGCAGCAGG	ENSP00000445618.1:p.Gln311_Gln314dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556288	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	829	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556288.1:c.*567delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000556288	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	829	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556288.1:c.*567delGinsCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000557311	Transcript	inframe_insertion	487	379	127	G/QQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000557311.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450642.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000557311	Transcript	inframe_insertion	487	379	127	G/QQQQG	Ggg/CAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000557311.1:c.379delGinsCAGCAGCAGCAGG	ENSP00000450642.1:p.Gln123_Gln126dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556644	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	300	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556644.1:n.300delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000556644	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	300	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556644.1:n.300delGinsCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000429774	Transcript	inframe_insertion	964	895	299	G/QQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000429774.2:c.895delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000389376.2:p.Gly299delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000429774	Transcript	inframe_insertion	964	895	299	G/QQQQG	Ggg/CAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000429774.2:c.895delGinsCAGCAGCAGCAGG	ENSP00000389376.2:p.Gln295_Gln298dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556220	Transcript	inframe_insertion	620	598	200	G/QQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000556220.1:c.598delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450641.1:p.Gly200delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000556220	Transcript	inframe_insertion	620	598	200	G/QQQQG	Ggg/CAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000556220.1:c.598delGinsCAGCAGCAGCAGG	ENSP00000450641.1:p.Gln196_Gln199dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554994	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	850	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554994.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000554994	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	850	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554994.1:c.*375delGinsCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554592	Transcript	inframe_insertion	935	913	305	G/QQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554592.1:c.913delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451385.1:p.Gly305delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000554592	Transcript	inframe_insertion	935	913	305	G/QQQQG	Ggg/CAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554592.1:c.913delGinsCAGCAGCAGCAGG	ENSP00000451385.1:p.Gln301_Gln304dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553491	Transcript	inframe_insertion	785	763	255	G/QQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000553491.1:c.763delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451996.1:p.Gly255delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000553491	Transcript	inframe_insertion	785	763	255	G/QQQQG	Ggg/CAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000553491.1:c.763delGinsCAGCAGCAGCAGG	ENSP00000451996.1:p.Gln251_Gln254dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000557030	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	735	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000557030.1:c.*111delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000557030	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	735	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000557030.1:c.*111delGinsCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555381	Transcript	inframe_insertion	728	706	236	G/QQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000555381.1:c.706delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451001.1:p.Gly236delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000555381	Transcript	inframe_insertion	728	706	236	G/QQQQG	Ggg/CAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000555381.1:c.706delGinsCAGCAGCAGCAGG	ENSP00000451001.1:p.Gln232_Gln235dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556898	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	915	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556898.1:c.*413delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000556898	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	915	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556898.1:c.*413delGinsCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553686	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	797	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553686.1:n.797delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000553686	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	797	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553686.1:n.797delGinsCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000359366	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	868	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000359366.5:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000359366	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	868	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000359366.5:c.*590delGinsCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554040	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	520	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554040.1:n.520delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000554040	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	520	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554040.1:n.520delGinsCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000526245	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	7106	processed_transcript	-	-	-	ENST00000526245.1:n.117-12223delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000526245	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	7106	processed_transcript	-	-	-	ENST00000526245.1:n.117-12223delGinsCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555816	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555816.1:c.*423delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000555816	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555816.1:c.*423delGinsCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556082	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	588	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556082.1:c.*326delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000556082	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	588	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556082.1:c.*326delGinsCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553570	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553570.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000553570	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553570.1:c.*375delGinsCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000340660	Transcript	inframe_insertion	809	751	251	G/QQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000340660.6:c.751delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000339110.6:p.Gly251delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000340660	Transcript	inframe_insertion	809	751	251	G/QQQQG	Ggg/CAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000340660.6:c.751delGinsCAGCAGCAGCAGG	ENSP00000339110.6:p.Gln247_Gln250dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553488	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	993	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553488.1:c.*731delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000553488	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	993	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553488.1:c.*731delGinsCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553309	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	950	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553309.1:n.950delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000553309	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	950	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553309.1:n.950delGinsCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556274	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	841	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556274.1:c.*579delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000556274	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	841	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556274.1:c.*579delGinsCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554672	Transcript	inframe_insertion	684	622	208	G/QQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554672.1:c.622delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451417.1:p.Gly208delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000554672	Transcript	inframe_insertion	684	622	208	G/QQQQG	Ggg/CAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554672.1:c.622delGinsCAGCAGCAGCAGG	ENSP00000451417.1:p.Gln204_Gln207dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555958	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	785	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000555958.1:n.785delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000555958	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	785	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000555958.1:n.785delGinsCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000393287	Transcript	inframe_insertion	974	916	306	G/QQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000393287.5:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000376965.5:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000393287	Transcript	inframe_insertion	974	916	306	G/QQQQG	Ggg/CAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000393287.5:c.916delGinsCAGCAGCAGCAGG	ENSP00000376965.5:p.Gln302_Gln305dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556671	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556671.1:c.*494delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000556671	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556671.1:c.*494delGinsCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000503767	Transcript	inframe_insertion	919	871	291	G/QQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000503767.1:c.871delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000426697.1:p.Gly291delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000503767	Transcript	inframe_insertion	919	871	291	G/QQQQG	Ggg/CAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000503767.1:c.871delGinsCAGCAGCAGCAGG	ENSP00000426697.1:p.Gln287_Gln290dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554214	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	699	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554214.1:n.699delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000554214	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	699	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554214.1:n.699delGinsCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556315	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556315.1:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000556315	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556315.1:c.*590delGinsCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556339	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	453	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556339.1:n.453delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000556339	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	453	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556339.1:n.453delGinsCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000532032	Transcript	inframe_insertion	926	916	306	G/QQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000532032.1:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000437157.1:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000532032	Transcript	inframe_insertion	926	916	306	G/QQQQG	Ggg/CAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000532032.1:c.916delGinsCAGCAGCAGCAGG	ENSP00000437157.1:p.Gln302_Gln305dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554491	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	992	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554491.1:n.992delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000554491	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	992	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554491.1:n.992delGinsCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553498	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	839	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553498.1:n.839delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000553498	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	839	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553498.1:n.839delGinsCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556958	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	697	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556958.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000556958	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	697	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556958.1:c.*375delGinsCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000502250	Transcript	inframe_insertion	650	379	127	G/QQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000502250.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000425322.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000502250	Transcript	inframe_insertion	650	379	127	G/QQQQG	Ggg/CAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000502250.1:c.379delGinsCAGCAGCAGCAGG	ENSP00000425322.1:p.Gln123_Gln126dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553287	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	654	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553287.1:n.654delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000553287	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	654	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553287.1:n.654delGinsCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554350	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	871	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554350.1:c.*516delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTG	ENSG00000066427	ENST00000554350	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	871	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554350.1:c.*516delGinsCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556374	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	1011	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556374.1:c.*644delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556374	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	1011	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556374.1:c.*644delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556374	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	1011	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556374.1:c.*644delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556374	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	1011	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556374.1:c.*644delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556374	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	1011	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556374.1:c.*644delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556374	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	1011	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556374.1:c.*644delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556374	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	1011	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556374.1:c.*644delGinsGAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000545170	Transcript	inframe_insertion	1012	943	315	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000545170.1:c.943delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000445618.1:p.Gly315delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000545170	Transcript	inframe_insertion	1012	943	315	G/QQQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000545170.1:c.943delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000445618.1:p.Gly315delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000545170	Transcript	inframe_insertion	1012	943	315	G/QQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000545170.1:c.943delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000445618.1:p.Gly315delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000545170	Transcript	inframe_insertion	1012	943	315	G/EQQQQQQQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000545170.1:c.943delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000445618.1:p.Gly315delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000545170	Transcript	inframe_insertion	1012	943	315	G/QQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000545170.1:c.943delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000445618.1:p.Gln307_Gln314dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000545170	Transcript	inframe_insertion	1012	943	315	G/QQQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000545170.1:c.943delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000445618.1:p.Gln306_Gln314dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000545170	Transcript	inframe_insertion	1012	943	315	G/EQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000545170.1:c.943delGinsGAGCAGCAGCAGCAGCAGC	ENSP00000445618.1:p.Gly315delinsGluGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556288	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	829	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556288.1:c.*567delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556288	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	829	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556288.1:c.*567delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556288	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	829	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556288.1:c.*567delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556288	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	829	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556288.1:c.*567delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556288	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	829	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556288.1:c.*567delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556288	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	829	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556288.1:c.*567delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556288	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	829	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556288.1:c.*567delGinsGAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000557311	Transcript	inframe_insertion	487	379	127	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000557311.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450642.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000557311	Transcript	inframe_insertion	487	379	127	G/QQQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000557311.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450642.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000557311	Transcript	inframe_insertion	487	379	127	G/QQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000557311.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450642.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000557311	Transcript	inframe_insertion	487	379	127	G/EQQQQQQQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000557311.1:c.379delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450642.1:p.Gly127delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000557311	Transcript	inframe_insertion	487	379	127	G/QQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000557311.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000450642.1:p.Gln119_Gln126dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000557311	Transcript	inframe_insertion	487	379	127	G/QQQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000557311.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000450642.1:p.Gln118_Gln126dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000557311	Transcript	inframe_insertion	487	379	127	G/EQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000557311.1:c.379delGinsGAGCAGCAGCAGCAGCAGC	ENSP00000450642.1:p.Gly127delinsGluGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556644	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	300	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556644.1:n.300delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556644	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	300	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556644.1:n.300delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556644	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	300	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556644.1:n.300delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556644	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	300	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556644.1:n.300delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556644	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	300	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556644.1:n.300delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556644	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	300	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556644.1:n.300delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556644	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	300	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556644.1:n.300delGinsGAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000429774	Transcript	inframe_insertion	964	895	299	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000429774.2:c.895delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000389376.2:p.Gly299delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000429774	Transcript	inframe_insertion	964	895	299	G/QQQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000429774.2:c.895delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000389376.2:p.Gly299delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000429774	Transcript	inframe_insertion	964	895	299	G/QQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000429774.2:c.895delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000389376.2:p.Gly299delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000429774	Transcript	inframe_insertion	964	895	299	G/EQQQQQQQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000429774.2:c.895delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000389376.2:p.Gly299delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000429774	Transcript	inframe_insertion	964	895	299	G/QQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000429774.2:c.895delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000389376.2:p.Gln291_Gln298dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000429774	Transcript	inframe_insertion	964	895	299	G/QQQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000429774.2:c.895delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000389376.2:p.Gln290_Gln298dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000429774	Transcript	inframe_insertion	964	895	299	G/EQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000429774.2:c.895delGinsGAGCAGCAGCAGCAGCAGC	ENSP00000389376.2:p.Gly299delinsGluGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556220	Transcript	inframe_insertion	620	598	200	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000556220.1:c.598delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450641.1:p.Gly200delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556220	Transcript	inframe_insertion	620	598	200	G/QQQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000556220.1:c.598delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450641.1:p.Gly200delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556220	Transcript	inframe_insertion	620	598	200	G/QQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000556220.1:c.598delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450641.1:p.Gly200delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556220	Transcript	inframe_insertion	620	598	200	G/EQQQQQQQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000556220.1:c.598delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450641.1:p.Gly200delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556220	Transcript	inframe_insertion	620	598	200	G/QQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000556220.1:c.598delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000450641.1:p.Gln192_Gln199dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556220	Transcript	inframe_insertion	620	598	200	G/QQQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000556220.1:c.598delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000450641.1:p.Gln191_Gln199dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556220	Transcript	inframe_insertion	620	598	200	G/EQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000556220.1:c.598delGinsGAGCAGCAGCAGCAGCAGC	ENSP00000450641.1:p.Gly200delinsGluGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554994	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	850	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554994.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554994	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	850	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554994.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554994	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	850	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554994.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000554994	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	850	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554994.1:c.*375delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554994	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	850	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554994.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554994	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	850	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554994.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000554994	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	850	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554994.1:c.*375delGinsGAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554592	Transcript	inframe_insertion	935	913	305	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554592.1:c.913delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451385.1:p.Gly305delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554592	Transcript	inframe_insertion	935	913	305	G/QQQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554592.1:c.913delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451385.1:p.Gly305delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554592	Transcript	inframe_insertion	935	913	305	G/QQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554592.1:c.913delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451385.1:p.Gly305delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000554592	Transcript	inframe_insertion	935	913	305	G/EQQQQQQQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554592.1:c.913delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451385.1:p.Gly305delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554592	Transcript	inframe_insertion	935	913	305	G/QQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554592.1:c.913delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000451385.1:p.Gln297_Gln304dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554592	Transcript	inframe_insertion	935	913	305	G/QQQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554592.1:c.913delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000451385.1:p.Gln296_Gln304dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000554592	Transcript	inframe_insertion	935	913	305	G/EQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554592.1:c.913delGinsGAGCAGCAGCAGCAGCAGC	ENSP00000451385.1:p.Gly305delinsGluGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553491	Transcript	inframe_insertion	785	763	255	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000553491.1:c.763delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451996.1:p.Gly255delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553491	Transcript	inframe_insertion	785	763	255	G/QQQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000553491.1:c.763delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451996.1:p.Gly255delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553491	Transcript	inframe_insertion	785	763	255	G/QQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000553491.1:c.763delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451996.1:p.Gly255delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000553491	Transcript	inframe_insertion	785	763	255	G/EQQQQQQQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000553491.1:c.763delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451996.1:p.Gly255delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553491	Transcript	inframe_insertion	785	763	255	G/QQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000553491.1:c.763delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000451996.1:p.Gln247_Gln254dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553491	Transcript	inframe_insertion	785	763	255	G/QQQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000553491.1:c.763delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000451996.1:p.Gln246_Gln254dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000553491	Transcript	inframe_insertion	785	763	255	G/EQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000553491.1:c.763delGinsGAGCAGCAGCAGCAGCAGC	ENSP00000451996.1:p.Gly255delinsGluGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000557030	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	735	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000557030.1:c.*111delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000557030	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	735	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000557030.1:c.*111delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000557030	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	735	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000557030.1:c.*111delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000557030	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	735	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000557030.1:c.*111delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000557030	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	735	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000557030.1:c.*111delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000557030	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	735	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000557030.1:c.*111delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000557030	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	735	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000557030.1:c.*111delGinsGAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555381	Transcript	inframe_insertion	728	706	236	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000555381.1:c.706delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451001.1:p.Gly236delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555381	Transcript	inframe_insertion	728	706	236	G/QQQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000555381.1:c.706delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451001.1:p.Gly236delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555381	Transcript	inframe_insertion	728	706	236	G/QQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000555381.1:c.706delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451001.1:p.Gly236delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000555381	Transcript	inframe_insertion	728	706	236	G/EQQQQQQQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000555381.1:c.706delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451001.1:p.Gly236delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555381	Transcript	inframe_insertion	728	706	236	G/QQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000555381.1:c.706delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000451001.1:p.Gln228_Gln235dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555381	Transcript	inframe_insertion	728	706	236	G/QQQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000555381.1:c.706delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000451001.1:p.Gln227_Gln235dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000555381	Transcript	inframe_insertion	728	706	236	G/EQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000555381.1:c.706delGinsGAGCAGCAGCAGCAGCAGC	ENSP00000451001.1:p.Gly236delinsGluGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556898	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	915	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556898.1:c.*413delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556898	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	915	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556898.1:c.*413delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556898	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	915	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556898.1:c.*413delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556898	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	915	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556898.1:c.*413delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556898	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	915	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556898.1:c.*413delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556898	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	915	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556898.1:c.*413delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556898	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	915	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556898.1:c.*413delGinsGAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553686	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	797	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553686.1:n.797delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553686	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	797	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553686.1:n.797delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553686	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	797	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553686.1:n.797delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000553686	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	797	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553686.1:n.797delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553686	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	797	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553686.1:n.797delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553686	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	797	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553686.1:n.797delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000553686	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	797	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553686.1:n.797delGinsGAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000359366	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	868	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000359366.5:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000359366	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	868	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000359366.5:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000359366	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	868	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000359366.5:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000359366	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	868	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000359366.5:c.*590delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000359366	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	868	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000359366.5:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000359366	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	868	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000359366.5:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000359366	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	868	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000359366.5:c.*590delGinsGAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554040	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	520	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554040.1:n.520delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554040	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	520	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554040.1:n.520delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554040	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	520	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554040.1:n.520delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000554040	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	520	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554040.1:n.520delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554040	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	520	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554040.1:n.520delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554040	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	520	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554040.1:n.520delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000554040	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	520	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554040.1:n.520delGinsGAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000526245	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	7106	processed_transcript	-	-	-	ENST00000526245.1:n.117-12223delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000526245	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	7106	processed_transcript	-	-	-	ENST00000526245.1:n.117-12223delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000526245	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	7106	processed_transcript	-	-	-	ENST00000526245.1:n.117-12223delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000526245	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	7106	processed_transcript	-	-	-	ENST00000526245.1:n.117-12223delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000526245	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	7106	processed_transcript	-	-	-	ENST00000526245.1:n.117-12223delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000526245	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	7106	processed_transcript	-	-	-	ENST00000526245.1:n.117-12223delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000526245	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	7106	processed_transcript	-	-	-	ENST00000526245.1:n.117-12223delGinsGAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555816	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555816.1:c.*423delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555816	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555816.1:c.*423delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555816	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555816.1:c.*423delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000555816	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555816.1:c.*423delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555816	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555816.1:c.*423delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555816	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555816.1:c.*423delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000555816	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555816.1:c.*423delGinsGAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556082	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	588	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556082.1:c.*326delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556082	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	588	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556082.1:c.*326delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556082	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	588	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556082.1:c.*326delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556082	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	588	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556082.1:c.*326delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556082	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	588	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556082.1:c.*326delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556082	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	588	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556082.1:c.*326delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556082	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	588	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556082.1:c.*326delGinsGAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553570	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553570.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553570	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553570.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553570	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553570.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000553570	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553570.1:c.*375delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553570	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553570.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553570	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553570.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000553570	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553570.1:c.*375delGinsGAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000340660	Transcript	inframe_insertion	809	751	251	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000340660.6:c.751delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000339110.6:p.Gly251delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000340660	Transcript	inframe_insertion	809	751	251	G/QQQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000340660.6:c.751delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000339110.6:p.Gly251delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000340660	Transcript	inframe_insertion	809	751	251	G/QQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000340660.6:c.751delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000339110.6:p.Gly251delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000340660	Transcript	inframe_insertion	809	751	251	G/EQQQQQQQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000340660.6:c.751delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000339110.6:p.Gly251delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000340660	Transcript	inframe_insertion	809	751	251	G/QQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000340660.6:c.751delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000339110.6:p.Gln243_Gln250dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000340660	Transcript	inframe_insertion	809	751	251	G/QQQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000340660.6:c.751delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000339110.6:p.Gln242_Gln250dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000340660	Transcript	inframe_insertion	809	751	251	G/EQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000340660.6:c.751delGinsGAGCAGCAGCAGCAGCAGC	ENSP00000339110.6:p.Gly251delinsGluGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553488	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	993	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553488.1:c.*731delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553488	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	993	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553488.1:c.*731delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553488	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	993	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553488.1:c.*731delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000553488	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	993	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553488.1:c.*731delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553488	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	993	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553488.1:c.*731delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553488	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	993	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553488.1:c.*731delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000553488	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	993	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553488.1:c.*731delGinsGAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553309	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	950	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553309.1:n.950delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553309	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	950	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553309.1:n.950delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553309	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	950	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553309.1:n.950delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000553309	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	950	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553309.1:n.950delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553309	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	950	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553309.1:n.950delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553309	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	950	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553309.1:n.950delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000553309	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	950	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553309.1:n.950delGinsGAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556274	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	841	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556274.1:c.*579delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556274	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	841	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556274.1:c.*579delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556274	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	841	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556274.1:c.*579delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556274	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	841	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556274.1:c.*579delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556274	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	841	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556274.1:c.*579delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556274	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	841	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556274.1:c.*579delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556274	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	841	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556274.1:c.*579delGinsGAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554672	Transcript	inframe_insertion	684	622	208	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554672.1:c.622delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451417.1:p.Gly208delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554672	Transcript	inframe_insertion	684	622	208	G/QQQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554672.1:c.622delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451417.1:p.Gly208delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554672	Transcript	inframe_insertion	684	622	208	G/QQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554672.1:c.622delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451417.1:p.Gly208delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000554672	Transcript	inframe_insertion	684	622	208	G/EQQQQQQQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554672.1:c.622delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451417.1:p.Gly208delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554672	Transcript	inframe_insertion	684	622	208	G/QQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554672.1:c.622delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000451417.1:p.Gln200_Gln207dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554672	Transcript	inframe_insertion	684	622	208	G/QQQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554672.1:c.622delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000451417.1:p.Gln199_Gln207dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000554672	Transcript	inframe_insertion	684	622	208	G/EQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554672.1:c.622delGinsGAGCAGCAGCAGCAGCAGC	ENSP00000451417.1:p.Gly208delinsGluGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555958	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	785	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000555958.1:n.785delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555958	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	785	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000555958.1:n.785delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555958	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	785	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000555958.1:n.785delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000555958	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	785	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000555958.1:n.785delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555958	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	785	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000555958.1:n.785delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555958	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	785	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000555958.1:n.785delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000555958	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	785	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000555958.1:n.785delGinsGAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000393287	Transcript	inframe_insertion	974	916	306	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000393287.5:c.916delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000376965.5:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000393287	Transcript	inframe_insertion	974	916	306	G/QQQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000393287.5:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000376965.5:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000393287	Transcript	inframe_insertion	974	916	306	G/QQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000393287.5:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000376965.5:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000393287	Transcript	inframe_insertion	974	916	306	G/EQQQQQQQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000393287.5:c.916delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000376965.5:p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000393287	Transcript	inframe_insertion	974	916	306	G/QQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000393287.5:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000376965.5:p.Gln298_Gln305dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000393287	Transcript	inframe_insertion	974	916	306	G/QQQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000393287.5:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000376965.5:p.Gln297_Gln305dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000393287	Transcript	inframe_insertion	974	916	306	G/EQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000393287.5:c.916delGinsGAGCAGCAGCAGCAGCAGC	ENSP00000376965.5:p.Gly306delinsGluGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556671	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556671.1:c.*494delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556671	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556671.1:c.*494delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556671	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556671.1:c.*494delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556671	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556671.1:c.*494delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556671	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556671.1:c.*494delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556671	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556671.1:c.*494delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556671	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556671.1:c.*494delGinsGAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000503767	Transcript	inframe_insertion	919	871	291	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000503767.1:c.871delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000426697.1:p.Gly291delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000503767	Transcript	inframe_insertion	919	871	291	G/QQQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000503767.1:c.871delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000426697.1:p.Gly291delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000503767	Transcript	inframe_insertion	919	871	291	G/QQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000503767.1:c.871delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000426697.1:p.Gly291delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000503767	Transcript	inframe_insertion	919	871	291	G/EQQQQQQQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000503767.1:c.871delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000426697.1:p.Gly291delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000503767	Transcript	inframe_insertion	919	871	291	G/QQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000503767.1:c.871delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000426697.1:p.Gln283_Gln290dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000503767	Transcript	inframe_insertion	919	871	291	G/QQQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000503767.1:c.871delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000426697.1:p.Gln282_Gln290dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000503767	Transcript	inframe_insertion	919	871	291	G/EQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000503767.1:c.871delGinsGAGCAGCAGCAGCAGCAGC	ENSP00000426697.1:p.Gly291delinsGluGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554214	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	699	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554214.1:n.699delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554214	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	699	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554214.1:n.699delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554214	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	699	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554214.1:n.699delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000554214	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	699	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554214.1:n.699delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554214	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	699	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554214.1:n.699delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554214	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	699	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554214.1:n.699delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000554214	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	699	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554214.1:n.699delGinsGAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556315	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556315.1:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556315	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556315.1:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556315	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556315.1:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556315	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556315.1:c.*590delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556315	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556315.1:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556315	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556315.1:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556315	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556315.1:c.*590delGinsGAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556339	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	453	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556339.1:n.453delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556339	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	453	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556339.1:n.453delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556339	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	453	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556339.1:n.453delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556339	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	453	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556339.1:n.453delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556339	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	453	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556339.1:n.453delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556339	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	453	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556339.1:n.453delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556339	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	453	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556339.1:n.453delGinsGAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000532032	Transcript	inframe_insertion	926	916	306	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000532032.1:c.916delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000437157.1:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000532032	Transcript	inframe_insertion	926	916	306	G/QQQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000532032.1:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000437157.1:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000532032	Transcript	inframe_insertion	926	916	306	G/QQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000532032.1:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000437157.1:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000532032	Transcript	inframe_insertion	926	916	306	G/EQQQQQQQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000532032.1:c.916delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000437157.1:p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000532032	Transcript	inframe_insertion	926	916	306	G/QQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000532032.1:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000437157.1:p.Gln298_Gln305dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000532032	Transcript	inframe_insertion	926	916	306	G/QQQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000532032.1:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000437157.1:p.Gln297_Gln305dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000532032	Transcript	inframe_insertion	926	916	306	G/EQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000532032.1:c.916delGinsGAGCAGCAGCAGCAGCAGC	ENSP00000437157.1:p.Gly306delinsGluGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554491	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	992	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554491.1:n.992delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554491	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	992	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554491.1:n.992delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554491	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	992	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554491.1:n.992delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000554491	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	992	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554491.1:n.992delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554491	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	992	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554491.1:n.992delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554491	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	992	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554491.1:n.992delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000554491	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	992	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554491.1:n.992delGinsGAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553498	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	839	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553498.1:n.839delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553498	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	839	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553498.1:n.839delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553498	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	839	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553498.1:n.839delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000553498	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	839	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553498.1:n.839delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553498	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	839	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553498.1:n.839delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553498	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	839	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553498.1:n.839delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000553498	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	839	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553498.1:n.839delGinsGAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556958	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	697	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556958.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556958	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	697	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556958.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556958	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	697	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556958.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556958	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	697	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556958.1:c.*375delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556958	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	697	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556958.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556958	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	697	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556958.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000556958	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	697	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556958.1:c.*375delGinsGAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000502250	Transcript	inframe_insertion	650	379	127	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000502250.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000425322.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000502250	Transcript	inframe_insertion	650	379	127	G/QQQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000502250.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000425322.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000502250	Transcript	inframe_insertion	650	379	127	G/QQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000502250.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000425322.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000502250	Transcript	inframe_insertion	650	379	127	G/EQQQQQQQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000502250.1:c.379delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000425322.1:p.Gly127delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000502250	Transcript	inframe_insertion	650	379	127	G/QQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000502250.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000425322.1:p.Gln119_Gln126dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000502250	Transcript	inframe_insertion	650	379	127	G/QQQQQQQQQG	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGGgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000502250.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	ENSP00000425322.1:p.Gln118_Gln126dup	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000502250	Transcript	inframe_insertion	650	379	127	G/EQQQQQR	Ggg/GAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000502250.1:c.379delGinsGAGCAGCAGCAGCAGCAGC	ENSP00000425322.1:p.Gly127delinsGluGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553287	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	654	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553287.1:n.654delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553287	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	654	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553287.1:n.654delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553287	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	654	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553287.1:n.654delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000553287	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	654	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553287.1:n.654delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553287	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	654	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553287.1:n.654delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553287	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	654	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553287.1:n.654delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000553287	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	654	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553287.1:n.654delGinsGAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554350	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	871	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554350.1:c.*516delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554350	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	871	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554350.1:c.*516delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554350	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	871	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554350.1:c.*516delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000554350	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	871	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554350.1:c.*516delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554350	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	871	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554350.1:c.*516delGinsCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554350	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	871	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554350.1:c.*516delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTC	ENSG00000066427	ENST00000554350	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	871	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554350.1:c.*516delGinsGAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556374	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	1011	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556374.1:c.*644delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000545170	Transcript	inframe_insertion	1012	943	315	G/QQQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000545170.1:c.943delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000445618.1:p.Gly315delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556288	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	829	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556288.1:c.*567delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000557311	Transcript	inframe_insertion	487	379	127	G/QQQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000557311.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450642.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556644	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	300	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556644.1:n.300delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000429774	Transcript	inframe_insertion	964	895	299	G/QQQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000429774.2:c.895delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000389376.2:p.Gly299delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556220	Transcript	inframe_insertion	620	598	200	G/QQQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000556220.1:c.598delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450641.1:p.Gly200delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554994	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	850	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554994.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554592	Transcript	inframe_insertion	935	913	305	G/QQQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554592.1:c.913delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451385.1:p.Gly305delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553491	Transcript	inframe_insertion	785	763	255	G/QQQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000553491.1:c.763delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451996.1:p.Gly255delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000557030	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	735	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000557030.1:c.*111delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555381	Transcript	inframe_insertion	728	706	236	G/QQQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000555381.1:c.706delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451001.1:p.Gly236delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556898	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	915	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556898.1:c.*413delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553686	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	797	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553686.1:n.797delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000359366	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	868	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000359366.5:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554040	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	520	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554040.1:n.520delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000526245	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	7106	processed_transcript	-	-	-	ENST00000526245.1:n.117-12223delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555816	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555816.1:c.*423delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556082	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	588	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556082.1:c.*326delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553570	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553570.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000340660	Transcript	inframe_insertion	809	751	251	G/QQQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000340660.6:c.751delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000339110.6:p.Gly251delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553488	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	993	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553488.1:c.*731delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553309	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	950	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553309.1:n.950delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556274	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	841	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556274.1:c.*579delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554672	Transcript	inframe_insertion	684	622	208	G/QQQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554672.1:c.622delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451417.1:p.Gly208delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555958	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	785	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000555958.1:n.785delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000393287	Transcript	inframe_insertion	974	916	306	G/QQQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000393287.5:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000376965.5:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556671	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556671.1:c.*494delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000503767	Transcript	inframe_insertion	919	871	291	G/QQQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000503767.1:c.871delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000426697.1:p.Gly291delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554214	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	699	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554214.1:n.699delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556315	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556315.1:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556339	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	453	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556339.1:n.453delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000532032	Transcript	inframe_insertion	926	916	306	G/QQQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000532032.1:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000437157.1:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554491	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	992	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554491.1:n.992delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553498	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	839	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553498.1:n.839delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556958	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	697	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556958.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000502250	Transcript	inframe_insertion	650	379	127	G/QQQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000502250.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000425322.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553287	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	654	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553287.1:n.654delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554350	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	871	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554350.1:c.*516delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556374	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	1011	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556374.1:c.*644delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000545170	Transcript	inframe_insertion	1012	943	315	G/QQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000545170.1:c.943delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000445618.1:p.Gly315delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556288	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	829	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556288.1:c.*567delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000557311	Transcript	inframe_insertion	487	379	127	G/QQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000557311.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450642.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556644	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	300	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556644.1:n.300delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000429774	Transcript	inframe_insertion	964	895	299	G/QQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000429774.2:c.895delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000389376.2:p.Gly299delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556220	Transcript	inframe_insertion	620	598	200	G/QQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000556220.1:c.598delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450641.1:p.Gly200delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554994	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	850	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554994.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554592	Transcript	inframe_insertion	935	913	305	G/QQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554592.1:c.913delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451385.1:p.Gly305delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553491	Transcript	inframe_insertion	785	763	255	G/QQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000553491.1:c.763delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451996.1:p.Gly255delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000557030	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	735	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000557030.1:c.*111delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555381	Transcript	inframe_insertion	728	706	236	G/QQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000555381.1:c.706delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451001.1:p.Gly236delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556898	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	915	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556898.1:c.*413delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553686	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	797	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553686.1:n.797delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000359366	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	868	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000359366.5:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554040	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	520	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554040.1:n.520delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000526245	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	7106	processed_transcript	-	-	-	ENST00000526245.1:n.117-12223delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555816	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555816.1:c.*423delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556082	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	588	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556082.1:c.*326delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553570	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553570.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000340660	Transcript	inframe_insertion	809	751	251	G/QQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000340660.6:c.751delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000339110.6:p.Gly251delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553488	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	993	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553488.1:c.*731delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553309	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	950	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553309.1:n.950delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556274	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	841	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556274.1:c.*579delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554672	Transcript	inframe_insertion	684	622	208	G/QQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554672.1:c.622delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451417.1:p.Gly208delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555958	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	785	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000555958.1:n.785delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000393287	Transcript	inframe_insertion	974	916	306	G/QQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000393287.5:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000376965.5:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556671	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556671.1:c.*494delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000503767	Transcript	inframe_insertion	919	871	291	G/QQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000503767.1:c.871delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000426697.1:p.Gly291delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554214	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	699	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554214.1:n.699delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556315	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556315.1:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556339	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	453	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556339.1:n.453delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000532032	Transcript	inframe_insertion	926	916	306	G/QQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000532032.1:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000437157.1:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554491	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	992	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554491.1:n.992delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553498	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	839	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553498.1:n.839delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556958	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	697	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556958.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000502250	Transcript	inframe_insertion	650	379	127	G/QQQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000502250.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000425322.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553287	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	654	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553287.1:n.654delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554350	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	871	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554350.1:c.*516delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556374	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	1011	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556374.1:c.*644delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000545170	Transcript	inframe_insertion	1012	943	315	G/QQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000545170.1:c.943delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000445618.1:p.Gly315delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556288	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	829	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556288.1:c.*567delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000557311	Transcript	inframe_insertion	487	379	127	G/QQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000557311.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450642.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556644	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	300	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556644.1:n.300delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000429774	Transcript	inframe_insertion	964	895	299	G/QQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000429774.2:c.895delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000389376.2:p.Gly299delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556220	Transcript	inframe_insertion	620	598	200	G/QQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000556220.1:c.598delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450641.1:p.Gly200delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554994	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	850	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554994.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554592	Transcript	inframe_insertion	935	913	305	G/QQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554592.1:c.913delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451385.1:p.Gly305delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553491	Transcript	inframe_insertion	785	763	255	G/QQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000553491.1:c.763delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451996.1:p.Gly255delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000557030	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	735	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000557030.1:c.*111delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555381	Transcript	inframe_insertion	728	706	236	G/QQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000555381.1:c.706delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451001.1:p.Gly236delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556898	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	915	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556898.1:c.*413delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553686	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	797	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553686.1:n.797delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000359366	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	868	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000359366.5:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554040	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	520	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554040.1:n.520delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000526245	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	7106	processed_transcript	-	-	-	ENST00000526245.1:n.117-12223delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555816	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555816.1:c.*423delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556082	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	588	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556082.1:c.*326delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553570	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553570.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000340660	Transcript	inframe_insertion	809	751	251	G/QQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000340660.6:c.751delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000339110.6:p.Gly251delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553488	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	993	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553488.1:c.*731delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553309	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	950	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553309.1:n.950delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556274	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	841	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556274.1:c.*579delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554672	Transcript	inframe_insertion	684	622	208	G/QQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554672.1:c.622delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451417.1:p.Gly208delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555958	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	785	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000555958.1:n.785delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000393287	Transcript	inframe_insertion	974	916	306	G/QQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000393287.5:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000376965.5:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556671	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556671.1:c.*494delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000503767	Transcript	inframe_insertion	919	871	291	G/QQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000503767.1:c.871delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000426697.1:p.Gly291delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554214	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	699	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554214.1:n.699delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556315	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556315.1:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556339	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	453	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556339.1:n.453delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000532032	Transcript	inframe_insertion	926	916	306	G/QQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000532032.1:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000437157.1:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554491	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	992	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554491.1:n.992delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553498	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	839	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553498.1:n.839delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556958	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	697	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556958.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000502250	Transcript	inframe_insertion	650	379	127	G/QQQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000502250.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000425322.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553287	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	654	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553287.1:n.654delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554350	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	871	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554350.1:c.*516delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556374	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	1011	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556374.1:c.*644delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000545170	Transcript	inframe_insertion	1012	943	315	G/QQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000545170.1:c.943delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000445618.1:p.Gly315delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556288	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	829	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556288.1:c.*567delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000557311	Transcript	inframe_insertion	487	379	127	G/QQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000557311.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450642.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556644	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	300	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556644.1:n.300delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000429774	Transcript	inframe_insertion	964	895	299	G/QQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000429774.2:c.895delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000389376.2:p.Gly299delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556220	Transcript	inframe_insertion	620	598	200	G/QQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000556220.1:c.598delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450641.1:p.Gly200delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554994	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	850	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554994.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554592	Transcript	inframe_insertion	935	913	305	G/QQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554592.1:c.913delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451385.1:p.Gly305delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553491	Transcript	inframe_insertion	785	763	255	G/QQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000553491.1:c.763delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451996.1:p.Gly255delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000557030	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	735	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000557030.1:c.*111delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555381	Transcript	inframe_insertion	728	706	236	G/QQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000555381.1:c.706delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451001.1:p.Gly236delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556898	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	915	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556898.1:c.*413delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553686	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	797	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553686.1:n.797delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000359366	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	868	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000359366.5:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554040	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	520	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554040.1:n.520delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000526245	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	7106	processed_transcript	-	-	-	ENST00000526245.1:n.117-12223delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555816	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555816.1:c.*423delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556082	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	588	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556082.1:c.*326delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553570	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553570.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000340660	Transcript	inframe_insertion	809	751	251	G/QQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000340660.6:c.751delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000339110.6:p.Gly251delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553488	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	993	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553488.1:c.*731delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553309	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	950	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553309.1:n.950delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556274	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	841	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556274.1:c.*579delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554672	Transcript	inframe_insertion	684	622	208	G/QQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554672.1:c.622delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451417.1:p.Gly208delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555958	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	785	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000555958.1:n.785delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000393287	Transcript	inframe_insertion	974	916	306	G/QQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000393287.5:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000376965.5:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556671	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556671.1:c.*494delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000503767	Transcript	inframe_insertion	919	871	291	G/QQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000503767.1:c.871delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000426697.1:p.Gly291delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554214	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	699	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554214.1:n.699delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556315	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556315.1:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556339	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	453	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556339.1:n.453delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000532032	Transcript	inframe_insertion	926	916	306	G/QQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000532032.1:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000437157.1:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554491	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	992	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554491.1:n.992delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553498	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	839	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553498.1:n.839delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556958	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	697	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556958.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000502250	Transcript	inframe_insertion	650	379	127	G/QQQQQQQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000502250.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000425322.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553287	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	654	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553287.1:n.654delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554350	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	871	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554350.1:c.*516delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556374	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	1011	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556374.1:c.*644delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000545170	Transcript	inframe_insertion	1012	943	315	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000545170.1:c.943delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000445618.1:p.Gly315delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556288	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	829	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556288.1:c.*567delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000557311	Transcript	inframe_insertion	487	379	127	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000557311.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450642.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556644	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	300	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556644.1:n.300delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000429774	Transcript	inframe_insertion	964	895	299	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000429774.2:c.895delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000389376.2:p.Gly299delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556220	Transcript	inframe_insertion	620	598	200	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000556220.1:c.598delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450641.1:p.Gly200delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554994	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	850	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554994.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554592	Transcript	inframe_insertion	935	913	305	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554592.1:c.913delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451385.1:p.Gly305delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553491	Transcript	inframe_insertion	785	763	255	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000553491.1:c.763delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451996.1:p.Gly255delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000557030	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	735	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000557030.1:c.*111delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555381	Transcript	inframe_insertion	728	706	236	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000555381.1:c.706delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451001.1:p.Gly236delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556898	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	915	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556898.1:c.*413delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553686	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	797	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553686.1:n.797delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000359366	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	868	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000359366.5:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554040	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	520	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554040.1:n.520delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000526245	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	7106	processed_transcript	-	-	-	ENST00000526245.1:n.117-12223delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555816	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555816.1:c.*423delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556082	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	588	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556082.1:c.*326delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553570	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553570.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000340660	Transcript	inframe_insertion	809	751	251	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000340660.6:c.751delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000339110.6:p.Gly251delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553488	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	993	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553488.1:c.*731delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553309	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	950	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553309.1:n.950delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556274	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	841	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556274.1:c.*579delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554672	Transcript	inframe_insertion	684	622	208	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554672.1:c.622delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451417.1:p.Gly208delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555958	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	785	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000555958.1:n.785delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000393287	Transcript	inframe_insertion	974	916	306	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000393287.5:c.916delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000376965.5:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556671	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556671.1:c.*494delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000503767	Transcript	inframe_insertion	919	871	291	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000503767.1:c.871delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000426697.1:p.Gly291delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554214	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	699	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554214.1:n.699delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556315	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556315.1:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556339	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	453	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556339.1:n.453delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000532032	Transcript	inframe_insertion	926	916	306	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000532032.1:c.916delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000437157.1:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554491	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	992	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554491.1:n.992delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553498	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	839	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553498.1:n.839delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556958	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	697	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556958.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000502250	Transcript	inframe_insertion	650	379	127	G/QQQQQQQR	Ggg/CAGCAGCAGCAGCAGCAGCAGCgg	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000502250.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGC	ENSP00000425322.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnArg	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553287	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	654	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553287.1:n.654delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353-92537354	GCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554350	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	871	-	-	-	-	COSM318869,rs12895357	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554350.1:c.*516delGinsCAGCAGCAGCAGCAGCAGCAGC	-	G:0.2571	G:0.18	G:0.16	G:0.42	G:0.23	G:0.112574	G:0.188256	-	1,0	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556374	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	1011-1012	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556374.1:c.*644_*645insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556374	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	1011-1012	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556374.1:c.*644_*645insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556374	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	1011-1012	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556374.1:c.*644_*645insAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000545170	Transcript	inframe_insertion	1012-1013	943-944	315	G/EQQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000545170.1:c.943_944insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000445618.1:p.Gly315delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000545170	Transcript	inframe_insertion	1012-1013	943-944	315	G/EQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000545170.1:c.943_944insAGCAGCAGCAGCAGCAGC	ENSP00000445618.1:p.Gly315delinsGluGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000545170	Transcript	inframe_insertion	1012-1013	943-944	315	G/EQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000545170.1:c.943_944insAGCAGCAGCAGCAGCAGCAGC	ENSP00000445618.1:p.Gly315delinsGluGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556288	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	829-830	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556288.1:c.*567_*568insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556288	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	829-830	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556288.1:c.*567_*568insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556288	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	829-830	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556288.1:c.*567_*568insAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000557311	Transcript	inframe_insertion	487-488	379-380	127	G/EQQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000557311.1:c.379_380insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450642.1:p.Gly127delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000557311	Transcript	inframe_insertion	487-488	379-380	127	G/EQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000557311.1:c.379_380insAGCAGCAGCAGCAGCAGC	ENSP00000450642.1:p.Gly127delinsGluGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000557311	Transcript	inframe_insertion	487-488	379-380	127	G/EQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000557311.1:c.379_380insAGCAGCAGCAGCAGCAGCAGC	ENSP00000450642.1:p.Gly127delinsGluGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556644	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	300-301	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556644.1:n.300_301insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556644	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	300-301	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556644.1:n.300_301insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556644	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	300-301	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556644.1:n.300_301insAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000429774	Transcript	inframe_insertion	964-965	895-896	299	G/EQQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000429774.2:c.895_896insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000389376.2:p.Gly299delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000429774	Transcript	inframe_insertion	964-965	895-896	299	G/EQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000429774.2:c.895_896insAGCAGCAGCAGCAGCAGC	ENSP00000389376.2:p.Gly299delinsGluGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000429774	Transcript	inframe_insertion	964-965	895-896	299	G/EQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000429774.2:c.895_896insAGCAGCAGCAGCAGCAGCAGC	ENSP00000389376.2:p.Gly299delinsGluGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556220	Transcript	inframe_insertion	620-621	598-599	200	G/EQQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000556220.1:c.598_599insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450641.1:p.Gly200delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556220	Transcript	inframe_insertion	620-621	598-599	200	G/EQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000556220.1:c.598_599insAGCAGCAGCAGCAGCAGC	ENSP00000450641.1:p.Gly200delinsGluGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556220	Transcript	inframe_insertion	620-621	598-599	200	G/EQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000556220.1:c.598_599insAGCAGCAGCAGCAGCAGCAGC	ENSP00000450641.1:p.Gly200delinsGluGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554994	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	850-851	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554994.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554994	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	850-851	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554994.1:c.*375_*376insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554994	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	850-851	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554994.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554592	Transcript	inframe_insertion	935-936	913-914	305	G/EQQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554592.1:c.913_914insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451385.1:p.Gly305delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554592	Transcript	inframe_insertion	935-936	913-914	305	G/EQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554592.1:c.913_914insAGCAGCAGCAGCAGCAGC	ENSP00000451385.1:p.Gly305delinsGluGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554592	Transcript	inframe_insertion	935-936	913-914	305	G/EQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554592.1:c.913_914insAGCAGCAGCAGCAGCAGCAGC	ENSP00000451385.1:p.Gly305delinsGluGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553491	Transcript	inframe_insertion	785-786	763-764	255	G/EQQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000553491.1:c.763_764insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451996.1:p.Gly255delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553491	Transcript	inframe_insertion	785-786	763-764	255	G/EQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000553491.1:c.763_764insAGCAGCAGCAGCAGCAGC	ENSP00000451996.1:p.Gly255delinsGluGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553491	Transcript	inframe_insertion	785-786	763-764	255	G/EQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000553491.1:c.763_764insAGCAGCAGCAGCAGCAGCAGC	ENSP00000451996.1:p.Gly255delinsGluGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000557030	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	735-736	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000557030.1:c.*111_*112insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000557030	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	735-736	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000557030.1:c.*111_*112insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000557030	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	735-736	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000557030.1:c.*111_*112insAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000555381	Transcript	inframe_insertion	728-729	706-707	236	G/EQQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000555381.1:c.706_707insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451001.1:p.Gly236delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000555381	Transcript	inframe_insertion	728-729	706-707	236	G/EQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000555381.1:c.706_707insAGCAGCAGCAGCAGCAGC	ENSP00000451001.1:p.Gly236delinsGluGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000555381	Transcript	inframe_insertion	728-729	706-707	236	G/EQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000555381.1:c.706_707insAGCAGCAGCAGCAGCAGCAGC	ENSP00000451001.1:p.Gly236delinsGluGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556898	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	915-916	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556898.1:c.*413_*414insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556898	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	915-916	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556898.1:c.*413_*414insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556898	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	915-916	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556898.1:c.*413_*414insAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553686	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	797-798	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553686.1:n.797_798insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553686	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	797-798	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553686.1:n.797_798insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553686	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	797-798	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553686.1:n.797_798insAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000359366	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	868-869	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000359366.5:c.*590_*591insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000359366	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	868-869	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000359366.5:c.*590_*591insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000359366	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	868-869	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000359366.5:c.*590_*591insAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554040	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	520-521	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554040.1:n.520_521insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554040	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	520-521	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554040.1:n.520_521insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554040	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	520-521	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554040.1:n.520_521insAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000526245	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	ATXN3	HGNC	7106	processed_transcript	-	-	-	ENST00000526245.1:n.117-12223_117-12222insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000526245	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	ATXN3	HGNC	7106	processed_transcript	-	-	-	ENST00000526245.1:n.117-12223_117-12222insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000526245	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	ATXN3	HGNC	7106	processed_transcript	-	-	-	ENST00000526245.1:n.117-12223_117-12222insAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000555816	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685-686	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555816.1:c.*423_*424insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000555816	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685-686	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555816.1:c.*423_*424insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000555816	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685-686	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555816.1:c.*423_*424insAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556082	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	588-589	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556082.1:c.*326_*327insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556082	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	588-589	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556082.1:c.*326_*327insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556082	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	588-589	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556082.1:c.*326_*327insAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553570	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685-686	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553570.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553570	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685-686	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553570.1:c.*375_*376insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553570	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685-686	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553570.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000340660	Transcript	inframe_insertion	809-810	751-752	251	G/EQQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000340660.6:c.751_752insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000339110.6:p.Gly251delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000340660	Transcript	inframe_insertion	809-810	751-752	251	G/EQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000340660.6:c.751_752insAGCAGCAGCAGCAGCAGC	ENSP00000339110.6:p.Gly251delinsGluGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000340660	Transcript	inframe_insertion	809-810	751-752	251	G/EQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000340660.6:c.751_752insAGCAGCAGCAGCAGCAGCAGC	ENSP00000339110.6:p.Gly251delinsGluGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553488	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	993-994	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553488.1:c.*731_*732insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553488	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	993-994	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553488.1:c.*731_*732insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553488	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	993-994	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553488.1:c.*731_*732insAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553309	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	950-951	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553309.1:n.950_951insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553309	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	950-951	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553309.1:n.950_951insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553309	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	950-951	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553309.1:n.950_951insAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556274	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	841-842	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556274.1:c.*579_*580insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556274	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	841-842	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556274.1:c.*579_*580insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556274	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	841-842	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556274.1:c.*579_*580insAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554672	Transcript	inframe_insertion	684-685	622-623	208	G/EQQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554672.1:c.622_623insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451417.1:p.Gly208delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554672	Transcript	inframe_insertion	684-685	622-623	208	G/EQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554672.1:c.622_623insAGCAGCAGCAGCAGCAGC	ENSP00000451417.1:p.Gly208delinsGluGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554672	Transcript	inframe_insertion	684-685	622-623	208	G/EQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554672.1:c.622_623insAGCAGCAGCAGCAGCAGCAGC	ENSP00000451417.1:p.Gly208delinsGluGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000555958	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	785-786	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000555958.1:n.785_786insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000555958	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	785-786	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000555958.1:n.785_786insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000555958	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	785-786	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000555958.1:n.785_786insAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000393287	Transcript	inframe_insertion	974-975	916-917	306	G/EQQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000393287.5:c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000376965.5:p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000393287	Transcript	inframe_insertion	974-975	916-917	306	G/EQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000393287.5:c.916_917insAGCAGCAGCAGCAGCAGC	ENSP00000376965.5:p.Gly306delinsGluGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000393287	Transcript	inframe_insertion	974-975	916-917	306	G/EQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000393287.5:c.916_917insAGCAGCAGCAGCAGCAGCAGC	ENSP00000376965.5:p.Gly306delinsGluGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556671	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849-850	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556671.1:c.*494_*495insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556671	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849-850	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556671.1:c.*494_*495insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556671	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849-850	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556671.1:c.*494_*495insAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000503767	Transcript	inframe_insertion	919-920	871-872	291	G/EQQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000503767.1:c.871_872insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000426697.1:p.Gly291delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000503767	Transcript	inframe_insertion	919-920	871-872	291	G/EQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000503767.1:c.871_872insAGCAGCAGCAGCAGCAGC	ENSP00000426697.1:p.Gly291delinsGluGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000503767	Transcript	inframe_insertion	919-920	871-872	291	G/EQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000503767.1:c.871_872insAGCAGCAGCAGCAGCAGCAGC	ENSP00000426697.1:p.Gly291delinsGluGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554214	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	699-700	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554214.1:n.699_700insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554214	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	699-700	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554214.1:n.699_700insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554214	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	699-700	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554214.1:n.699_700insAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556315	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849-850	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556315.1:c.*590_*591insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556315	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849-850	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556315.1:c.*590_*591insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556315	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849-850	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556315.1:c.*590_*591insAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556339	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	453-454	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556339.1:n.453_454insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556339	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	453-454	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556339.1:n.453_454insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556339	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	453-454	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556339.1:n.453_454insAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000532032	Transcript	inframe_insertion	926-927	916-917	306	G/EQQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000532032.1:c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000437157.1:p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000532032	Transcript	inframe_insertion	926-927	916-917	306	G/EQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000532032.1:c.916_917insAGCAGCAGCAGCAGCAGC	ENSP00000437157.1:p.Gly306delinsGluGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000532032	Transcript	inframe_insertion	926-927	916-917	306	G/EQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000532032.1:c.916_917insAGCAGCAGCAGCAGCAGCAGC	ENSP00000437157.1:p.Gly306delinsGluGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554491	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	992-993	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554491.1:n.992_993insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554491	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	992-993	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554491.1:n.992_993insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554491	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	992-993	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554491.1:n.992_993insAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553498	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	839-840	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553498.1:n.839_840insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553498	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	839-840	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553498.1:n.839_840insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553498	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	839-840	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553498.1:n.839_840insAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556958	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	697-698	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556958.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556958	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	697-698	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556958.1:c.*375_*376insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556958	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	697-698	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556958.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000502250	Transcript	inframe_insertion	650-651	379-380	127	G/EQQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000502250.1:c.379_380insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000425322.1:p.Gly127delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000502250	Transcript	inframe_insertion	650-651	379-380	127	G/EQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000502250.1:c.379_380insAGCAGCAGCAGCAGCAGC	ENSP00000425322.1:p.Gly127delinsGluGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000502250	Transcript	inframe_insertion	650-651	379-380	127	G/EQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000502250.1:c.379_380insAGCAGCAGCAGCAGCAGCAGC	ENSP00000425322.1:p.Gly127delinsGluGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553287	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	654-655	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553287.1:n.654_655insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553287	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	654-655	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553287.1:n.654_655insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553287	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	654-655	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553287.1:n.654_655insAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554350	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	871-872	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554350.1:c.*516_*517insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554350	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	871-872	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554350.1:c.*516_*517insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554350	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	871-872	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554350.1:c.*516_*517insAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556374	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	1011-1012	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556374.1:c.*644_*645insAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000545170	Transcript	inframe_insertion	1012-1013	943-944	315	G/EQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000545170.1:c.943_944insAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000445618.1:p.Gly315delinsGluGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556288	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	829-830	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556288.1:c.*567_*568insAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000557311	Transcript	inframe_insertion	487-488	379-380	127	G/EQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000557311.1:c.379_380insAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450642.1:p.Gly127delinsGluGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556644	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	300-301	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556644.1:n.300_301insAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000429774	Transcript	inframe_insertion	964-965	895-896	299	G/EQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000429774.2:c.895_896insAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000389376.2:p.Gly299delinsGluGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556220	Transcript	inframe_insertion	620-621	598-599	200	G/EQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000556220.1:c.598_599insAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450641.1:p.Gly200delinsGluGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554994	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	850-851	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554994.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554592	Transcript	inframe_insertion	935-936	913-914	305	G/EQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554592.1:c.913_914insAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451385.1:p.Gly305delinsGluGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553491	Transcript	inframe_insertion	785-786	763-764	255	G/EQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000553491.1:c.763_764insAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451996.1:p.Gly255delinsGluGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000557030	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	735-736	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000557030.1:c.*111_*112insAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000555381	Transcript	inframe_insertion	728-729	706-707	236	G/EQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000555381.1:c.706_707insAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451001.1:p.Gly236delinsGluGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556898	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	915-916	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556898.1:c.*413_*414insAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553686	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	797-798	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553686.1:n.797_798insAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000359366	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	868-869	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000359366.5:c.*590_*591insAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554040	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	520-521	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554040.1:n.520_521insAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000526245	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	ATXN3	HGNC	7106	processed_transcript	-	-	-	ENST00000526245.1:n.117-12223_117-12222insAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000555816	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685-686	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555816.1:c.*423_*424insAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556082	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	588-589	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556082.1:c.*326_*327insAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553570	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685-686	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553570.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000340660	Transcript	inframe_insertion	809-810	751-752	251	G/EQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000340660.6:c.751_752insAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000339110.6:p.Gly251delinsGluGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553488	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	993-994	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553488.1:c.*731_*732insAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553309	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	950-951	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553309.1:n.950_951insAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556274	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	841-842	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556274.1:c.*579_*580insAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554672	Transcript	inframe_insertion	684-685	622-623	208	G/EQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554672.1:c.622_623insAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451417.1:p.Gly208delinsGluGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000555958	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	785-786	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000555958.1:n.785_786insAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000393287	Transcript	inframe_insertion	974-975	916-917	306	G/EQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000393287.5:c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000376965.5:p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556671	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849-850	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556671.1:c.*494_*495insAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000503767	Transcript	inframe_insertion	919-920	871-872	291	G/EQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000503767.1:c.871_872insAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000426697.1:p.Gly291delinsGluGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554214	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	699-700	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554214.1:n.699_700insAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556315	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849-850	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556315.1:c.*590_*591insAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556339	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	453-454	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556339.1:n.453_454insAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000532032	Transcript	inframe_insertion	926-927	916-917	306	G/EQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000532032.1:c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000437157.1:p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554491	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	992-993	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554491.1:n.992_993insAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553498	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	839-840	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553498.1:n.839_840insAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556958	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	697-698	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556958.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000502250	Transcript	inframe_insertion	650-651	379-380	127	G/EQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000502250.1:c.379_380insAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000425322.1:p.Gly127delinsGluGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553287	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	654-655	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553287.1:n.654_655insAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554350	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	871-872	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554350.1:c.*516_*517insAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556374	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	1011-1012	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556374.1:c.*644_*645insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000545170	Transcript	inframe_insertion	1012-1013	943-944	315	G/EQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000545170.1:c.943_944insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000445618.1:p.Gly315delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556288	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	829-830	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556288.1:c.*567_*568insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000557311	Transcript	inframe_insertion	487-488	379-380	127	G/EQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000557311.1:c.379_380insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450642.1:p.Gly127delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556644	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	300-301	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556644.1:n.300_301insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000429774	Transcript	inframe_insertion	964-965	895-896	299	G/EQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000429774.2:c.895_896insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000389376.2:p.Gly299delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556220	Transcript	inframe_insertion	620-621	598-599	200	G/EQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000556220.1:c.598_599insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450641.1:p.Gly200delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554994	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	850-851	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554994.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554592	Transcript	inframe_insertion	935-936	913-914	305	G/EQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554592.1:c.913_914insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451385.1:p.Gly305delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553491	Transcript	inframe_insertion	785-786	763-764	255	G/EQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000553491.1:c.763_764insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451996.1:p.Gly255delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000557030	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	735-736	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000557030.1:c.*111_*112insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000555381	Transcript	inframe_insertion	728-729	706-707	236	G/EQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000555381.1:c.706_707insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451001.1:p.Gly236delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556898	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	915-916	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556898.1:c.*413_*414insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553686	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	797-798	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553686.1:n.797_798insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000359366	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	868-869	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000359366.5:c.*590_*591insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554040	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	520-521	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554040.1:n.520_521insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000526245	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	ATXN3	HGNC	7106	processed_transcript	-	-	-	ENST00000526245.1:n.117-12223_117-12222insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000555816	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685-686	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555816.1:c.*423_*424insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556082	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	588-589	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556082.1:c.*326_*327insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553570	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685-686	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553570.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000340660	Transcript	inframe_insertion	809-810	751-752	251	G/EQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000340660.6:c.751_752insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000339110.6:p.Gly251delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553488	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	993-994	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553488.1:c.*731_*732insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553309	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	950-951	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553309.1:n.950_951insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556274	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	841-842	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556274.1:c.*579_*580insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554672	Transcript	inframe_insertion	684-685	622-623	208	G/EQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554672.1:c.622_623insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451417.1:p.Gly208delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000555958	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	785-786	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000555958.1:n.785_786insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000393287	Transcript	inframe_insertion	974-975	916-917	306	G/EQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000393287.5:c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000376965.5:p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556671	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849-850	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556671.1:c.*494_*495insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000503767	Transcript	inframe_insertion	919-920	871-872	291	G/EQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000503767.1:c.871_872insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000426697.1:p.Gly291delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554214	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	699-700	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554214.1:n.699_700insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556315	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849-850	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556315.1:c.*590_*591insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556339	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	453-454	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556339.1:n.453_454insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000532032	Transcript	inframe_insertion	926-927	916-917	306	G/EQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000532032.1:c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000437157.1:p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554491	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	992-993	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554491.1:n.992_993insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553498	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	839-840	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553498.1:n.839_840insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556958	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	697-698	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556958.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000502250	Transcript	inframe_insertion	650-651	379-380	127	G/EQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000502250.1:c.379_380insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000425322.1:p.Gly127delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553287	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	654-655	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553287.1:n.654_655insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554350	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	871-872	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554350.1:c.*516_*517insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556374	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	1011-1012	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556374.1:c.*644_*645insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000545170	Transcript	inframe_insertion	1012-1013	943-944	315	G/EQQQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000545170.1:c.943_944insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000445618.1:p.Gly315delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556288	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	829-830	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556288.1:c.*567_*568insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000557311	Transcript	inframe_insertion	487-488	379-380	127	G/EQQQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000557311.1:c.379_380insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450642.1:p.Gly127delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556644	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	300-301	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556644.1:n.300_301insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000429774	Transcript	inframe_insertion	964-965	895-896	299	G/EQQQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000429774.2:c.895_896insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000389376.2:p.Gly299delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556220	Transcript	inframe_insertion	620-621	598-599	200	G/EQQQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000556220.1:c.598_599insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450641.1:p.Gly200delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554994	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	850-851	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554994.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554592	Transcript	inframe_insertion	935-936	913-914	305	G/EQQQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554592.1:c.913_914insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451385.1:p.Gly305delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553491	Transcript	inframe_insertion	785-786	763-764	255	G/EQQQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000553491.1:c.763_764insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451996.1:p.Gly255delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000557030	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	735-736	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000557030.1:c.*111_*112insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000555381	Transcript	inframe_insertion	728-729	706-707	236	G/EQQQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000555381.1:c.706_707insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451001.1:p.Gly236delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556898	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	915-916	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556898.1:c.*413_*414insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553686	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	797-798	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553686.1:n.797_798insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000359366	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	868-869	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000359366.5:c.*590_*591insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554040	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	520-521	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554040.1:n.520_521insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000526245	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	ATXN3	HGNC	7106	processed_transcript	-	-	-	ENST00000526245.1:n.117-12223_117-12222insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000555816	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685-686	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555816.1:c.*423_*424insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556082	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	588-589	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556082.1:c.*326_*327insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553570	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685-686	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553570.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000340660	Transcript	inframe_insertion	809-810	751-752	251	G/EQQQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000340660.6:c.751_752insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000339110.6:p.Gly251delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553488	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	993-994	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553488.1:c.*731_*732insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553309	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	950-951	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553309.1:n.950_951insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556274	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	841-842	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556274.1:c.*579_*580insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554672	Transcript	inframe_insertion	684-685	622-623	208	G/EQQQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554672.1:c.622_623insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451417.1:p.Gly208delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000555958	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	785-786	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000555958.1:n.785_786insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000393287	Transcript	inframe_insertion	974-975	916-917	306	G/EQQQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000393287.5:c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000376965.5:p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556671	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849-850	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556671.1:c.*494_*495insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000503767	Transcript	inframe_insertion	919-920	871-872	291	G/EQQQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000503767.1:c.871_872insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000426697.1:p.Gly291delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554214	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	699-700	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554214.1:n.699_700insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556315	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849-850	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556315.1:c.*590_*591insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556339	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	453-454	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556339.1:n.453_454insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000532032	Transcript	inframe_insertion	926-927	916-917	306	G/EQQQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000532032.1:c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000437157.1:p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554491	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	992-993	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554491.1:n.992_993insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553498	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	839-840	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553498.1:n.839_840insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556958	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	697-698	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556958.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000502250	Transcript	inframe_insertion	650-651	379-380	127	G/EQQQQQQQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000502250.1:c.379_380insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000425322.1:p.Gly127delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553287	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	654-655	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553287.1:n.654_655insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554350	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	871-872	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554350.1:c.*516_*517insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556374	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	1011-1012	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556374.1:c.*644_*645insAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000545170	Transcript	inframe_insertion	1012-1013	943-944	315	G/EQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000545170.1:c.943_944insAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000445618.1:p.Gly315delinsGluGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556288	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	829-830	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556288.1:c.*567_*568insAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000557311	Transcript	inframe_insertion	487-488	379-380	127	G/EQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000557311.1:c.379_380insAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450642.1:p.Gly127delinsGluGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556644	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	300-301	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556644.1:n.300_301insAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000429774	Transcript	inframe_insertion	964-965	895-896	299	G/EQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000429774.2:c.895_896insAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000389376.2:p.Gly299delinsGluGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556220	Transcript	inframe_insertion	620-621	598-599	200	G/EQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000556220.1:c.598_599insAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000450641.1:p.Gly200delinsGluGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554994	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	850-851	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554994.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554592	Transcript	inframe_insertion	935-936	913-914	305	G/EQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554592.1:c.913_914insAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451385.1:p.Gly305delinsGluGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553491	Transcript	inframe_insertion	785-786	763-764	255	G/EQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000553491.1:c.763_764insAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451996.1:p.Gly255delinsGluGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000557030	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	735-736	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000557030.1:c.*111_*112insAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000555381	Transcript	inframe_insertion	728-729	706-707	236	G/EQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000555381.1:c.706_707insAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451001.1:p.Gly236delinsGluGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556898	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	915-916	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556898.1:c.*413_*414insAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553686	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	797-798	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553686.1:n.797_798insAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000359366	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	868-869	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000359366.5:c.*590_*591insAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554040	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	520-521	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554040.1:n.520_521insAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000526245	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	ATXN3	HGNC	7106	processed_transcript	-	-	-	ENST00000526245.1:n.117-12223_117-12222insAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000555816	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685-686	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555816.1:c.*423_*424insAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556082	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	588-589	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556082.1:c.*326_*327insAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553570	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685-686	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553570.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000340660	Transcript	inframe_insertion	809-810	751-752	251	G/EQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000340660.6:c.751_752insAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000339110.6:p.Gly251delinsGluGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553488	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	993-994	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553488.1:c.*731_*732insAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553309	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	950-951	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553309.1:n.950_951insAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556274	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	841-842	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556274.1:c.*579_*580insAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554672	Transcript	inframe_insertion	684-685	622-623	208	G/EQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554672.1:c.622_623insAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000451417.1:p.Gly208delinsGluGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000555958	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	785-786	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000555958.1:n.785_786insAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000393287	Transcript	inframe_insertion	974-975	916-917	306	G/EQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000393287.5:c.916_917insAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000376965.5:p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556671	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849-850	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556671.1:c.*494_*495insAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000503767	Transcript	inframe_insertion	919-920	871-872	291	G/EQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000503767.1:c.871_872insAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000426697.1:p.Gly291delinsGluGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554214	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	699-700	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554214.1:n.699_700insAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556315	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849-850	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556315.1:c.*590_*591insAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556339	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	453-454	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556339.1:n.453_454insAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000532032	Transcript	inframe_insertion	926-927	916-917	306	G/EQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000532032.1:c.916_917insAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000437157.1:p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554491	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	992-993	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554491.1:n.992_993insAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553498	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	839-840	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553498.1:n.839_840insAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556958	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	697-698	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556958.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000502250	Transcript	inframe_insertion	650-651	379-380	127	G/EQQQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000502250.1:c.379_380insAGCAGCAGCAGCAGCAGCAGCAGC	ENSP00000425322.1:p.Gly127delinsGluGlnGlnGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553287	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	654-655	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553287.1:n.654_655insAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554350	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	871-872	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554350.1:c.*516_*517insAGCAGCAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556374	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	1011-1012	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556374.1:c.*644_*645insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000545170	Transcript	inframe_insertion	1012-1013	943-944	315	G/EQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000545170.1:c.943_944insAGCAGCAGCAGCAGCAGC	ENSP00000445618.1:p.Gly315delinsGluGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556288	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	829-830	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556288.1:c.*567_*568insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000557311	Transcript	inframe_insertion	487-488	379-380	127	G/EQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000557311.1:c.379_380insAGCAGCAGCAGCAGCAGC	ENSP00000450642.1:p.Gly127delinsGluGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556644	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	300-301	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556644.1:n.300_301insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000429774	Transcript	inframe_insertion	964-965	895-896	299	G/EQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000429774.2:c.895_896insAGCAGCAGCAGCAGCAGC	ENSP00000389376.2:p.Gly299delinsGluGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556220	Transcript	inframe_insertion	620-621	598-599	200	G/EQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000556220.1:c.598_599insAGCAGCAGCAGCAGCAGC	ENSP00000450641.1:p.Gly200delinsGluGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554994	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	850-851	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554994.1:c.*375_*376insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554592	Transcript	inframe_insertion	935-936	913-914	305	G/EQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554592.1:c.913_914insAGCAGCAGCAGCAGCAGC	ENSP00000451385.1:p.Gly305delinsGluGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553491	Transcript	inframe_insertion	785-786	763-764	255	G/EQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000553491.1:c.763_764insAGCAGCAGCAGCAGCAGC	ENSP00000451996.1:p.Gly255delinsGluGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000557030	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	735-736	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000557030.1:c.*111_*112insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000555381	Transcript	inframe_insertion	728-729	706-707	236	G/EQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000555381.1:c.706_707insAGCAGCAGCAGCAGCAGC	ENSP00000451001.1:p.Gly236delinsGluGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556898	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	915-916	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556898.1:c.*413_*414insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553686	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	797-798	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553686.1:n.797_798insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000359366	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	868-869	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000359366.5:c.*590_*591insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554040	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	520-521	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554040.1:n.520_521insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000526245	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	ATXN3	HGNC	7106	processed_transcript	-	-	-	ENST00000526245.1:n.117-12223_117-12222insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000555816	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685-686	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555816.1:c.*423_*424insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556082	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	588-589	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556082.1:c.*326_*327insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553570	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	685-686	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553570.1:c.*375_*376insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000340660	Transcript	inframe_insertion	809-810	751-752	251	G/EQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000340660.6:c.751_752insAGCAGCAGCAGCAGCAGC	ENSP00000339110.6:p.Gly251delinsGluGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553488	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	993-994	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553488.1:c.*731_*732insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553309	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	950-951	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553309.1:n.950_951insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556274	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	841-842	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556274.1:c.*579_*580insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554672	Transcript	inframe_insertion	684-685	622-623	208	G/EQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000554672.1:c.622_623insAGCAGCAGCAGCAGCAGC	ENSP00000451417.1:p.Gly208delinsGluGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000555958	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	785-786	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000555958.1:n.785_786insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000393287	Transcript	inframe_insertion	974-975	916-917	306	G/EQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000393287.5:c.916_917insAGCAGCAGCAGCAGCAGC	ENSP00000376965.5:p.Gly306delinsGluGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556671	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849-850	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556671.1:c.*494_*495insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000503767	Transcript	inframe_insertion	919-920	871-872	291	G/EQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000503767.1:c.871_872insAGCAGCAGCAGCAGCAGC	ENSP00000426697.1:p.Gly291delinsGluGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554214	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	699-700	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554214.1:n.699_700insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556315	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	849-850	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556315.1:c.*590_*591insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556339	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	453-454	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556339.1:n.453_454insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000532032	Transcript	inframe_insertion	926-927	916-917	306	G/EQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000532032.1:c.916_917insAGCAGCAGCAGCAGCAGC	ENSP00000437157.1:p.Gly306delinsGluGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554491	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	992-993	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554491.1:n.992_993insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553498	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	839-840	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553498.1:n.839_840insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000556958	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	697-698	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556958.1:c.*375_*376insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000502250	Transcript	inframe_insertion	650-651	379-380	127	G/EQQQQQR	ggg/gAGCAGCAGCAGCAGCAGCgg	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50322	ENST00000502250.1:c.379_380insAGCAGCAGCAGCAGCAGC	ENSP00000425322.1:p.Gly127delinsGluGlnGlnGlnGlnGlnArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000553287	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	654-655	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553287.1:n.654_655insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537353	GCTGCTGCTGCTGCTGCT	ENSG00000066427	ENST00000554350	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	871-872	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554350.1:c.*516_*517insAGCAGCAGCAGCAGCAGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556374	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	986-987	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556374.1:c.*619_*620insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000545170	Transcript	inframe_insertion	987-988	918-919	306-307	-/QQQQQQQQQQ	-/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000545170.1:c.918_919insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000445618.1:p.Gln306_Gln307insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556288	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	804-805	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556288.1:c.*542_*543insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000557311	Transcript	inframe_insertion	462-463	354-355	118-119	-/QQQQQQQQQQ	-/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000557311.1:c.354_355insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000450642.1:p.Gln118_Gln119insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556644	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	275-276	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556644.1:n.275_276insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000429774	Transcript	inframe_insertion	939-940	870-871	290-291	-/QQQQQQQQQQ	-/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000429774.2:c.870_871insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000389376.2:p.Gln290_Gln291insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556220	Transcript	inframe_insertion	595-596	573-574	191-192	-/QQQQQQQQQQ	-/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000556220.1:c.573_574insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000450641.1:p.Gln191_Gln192insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554994	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	825-826	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554994.1:c.*350_*351insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554592	Transcript	inframe_insertion	910-911	888-889	296-297	-/QQQQQQQQQQ	-/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000554592.1:c.888_889insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000451385.1:p.Gln296_Gln297insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553491	Transcript	inframe_insertion	760-761	738-739	246-247	-/QQQQQQQQQQ	-/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000553491.1:c.738_739insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000451996.1:p.Gln246_Gln247insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000557030	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	710-711	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000557030.1:c.*86_*87insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555381	Transcript	inframe_insertion	703-704	681-682	227-228	-/QQQQQQQQQQ	-/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000555381.1:c.681_682insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000451001.1:p.Gln227_Gln228insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556898	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	890-891	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556898.1:c.*388_*389insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553686	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	772-773	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553686.1:n.772_773insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000359366	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	843-844	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000359366.5:c.*565_*566insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554040	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	495-496	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554040.1:n.495_496insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000526245	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	ATXN3	HGNC	7106	processed_transcript	-	-	-	ENST00000526245.1:n.117-12248_117-12247insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555816	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	660-661	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555816.1:c.*398_*399insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556082	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	563-564	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556082.1:c.*301_*302insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553570	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	660-661	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553570.1:c.*350_*351insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000340660	Transcript	inframe_insertion	784-785	726-727	242-243	-/QQQQQQQQQQ	-/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000340660.6:c.726_727insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000339110.6:p.Gln242_Gln243insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553488	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	968-969	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553488.1:c.*706_*707insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553309	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	925-926	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553309.1:n.925_926insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556274	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	816-817	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556274.1:c.*554_*555insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554672	Transcript	inframe_insertion	659-660	597-598	199-200	-/QQQQQQQQQQ	-/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000554672.1:c.597_598insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000451417.1:p.Gln199_Gln200insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000555958	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	760-761	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000555958.1:n.760_761insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000393287	Transcript	inframe_insertion	949-950	891-892	297-298	-/QQQQQQQQQQ	-/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000393287.5:c.891_892insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000376965.5:p.Gln297_Gln298insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556671	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	824-825	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556671.1:c.*469_*470insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000503767	Transcript	inframe_insertion	894-895	846-847	282-283	-/QQQQQQQQQQ	-/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000503767.1:c.846_847insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000426697.1:p.Gln282_Gln283insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554214	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	674-675	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554214.1:n.674_675insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556315	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	824-825	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556315.1:c.*565_*566insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556339	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	428-429	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556339.1:n.428_429insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000532032	Transcript	inframe_insertion	901-902	891-892	297-298	-/QQQQQQQQQQ	-/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000532032.1:c.891_892insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000437157.1:p.Gln297_Gln298insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554491	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	967-968	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554491.1:n.967_968insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553498	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	814-815	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553498.1:n.814_815insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000556958	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	672-673	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556958.1:c.*350_*351insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000502250	Transcript	inframe_insertion	625-626	354-355	118-119	-/QQQQQQQQQQ	-/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000502250.1:c.354_355insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000425322.1:p.Gln118_Gln119insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000553287	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	629-630	-	-	-	-	-	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553287.1:n.629_630insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ENSG00000066427	ENST00000554350	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	846-847	-	-	-	-	-	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554350.1:c.*491_*492insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556374	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	986	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556374.1:c.*619delAinsGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000545170	Transcript	inframe_insertion	987	918	306	Q/QQQQQQ	caA/caGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000545170.1:c.918delAinsGCAGCAGCAGCAGCAG	ENSP00000445618.1:p.Gln306_Gln307insGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556288	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	804	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556288.1:c.*542delAinsGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000557311	Transcript	inframe_insertion	462	354	118	Q/QQQQQQ	caA/caGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000557311.1:c.354delAinsGCAGCAGCAGCAGCAG	ENSP00000450642.1:p.Gln118_Gln119insGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556644	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	275	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556644.1:n.275delAinsGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000429774	Transcript	inframe_insertion	939	870	290	Q/QQQQQQ	caA/caGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000429774.2:c.870delAinsGCAGCAGCAGCAGCAG	ENSP00000389376.2:p.Gln290_Gln291insGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556220	Transcript	inframe_insertion	595	573	191	Q/QQQQQQ	caA/caGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000556220.1:c.573delAinsGCAGCAGCAGCAGCAG	ENSP00000450641.1:p.Gln191_Gln192insGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000554994	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	825	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554994.1:c.*350delAinsGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000554592	Transcript	inframe_insertion	910	888	296	Q/QQQQQQ	caA/caGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000554592.1:c.888delAinsGCAGCAGCAGCAGCAG	ENSP00000451385.1:p.Gln296_Gln297insGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000553491	Transcript	inframe_insertion	760	738	246	Q/QQQQQQ	caA/caGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000553491.1:c.738delAinsGCAGCAGCAGCAGCAG	ENSP00000451996.1:p.Gln246_Gln247insGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000557030	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	710	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000557030.1:c.*86delAinsGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000555381	Transcript	inframe_insertion	703	681	227	Q/QQQQQQ	caA/caGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000555381.1:c.681delAinsGCAGCAGCAGCAGCAG	ENSP00000451001.1:p.Gln227_Gln228insGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556898	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	890	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556898.1:c.*388delAinsGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000553686	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	772	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553686.1:n.772delAinsGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000359366	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	843	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000359366.5:c.*565delAinsGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000554040	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	495	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554040.1:n.495delAinsGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000526245	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	7106	processed_transcript	-	-	-	ENST00000526245.1:n.117-12248delAinsGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000555816	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	660	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555816.1:c.*398delAinsGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556082	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	563	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556082.1:c.*301delAinsGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000553570	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	660	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553570.1:c.*350delAinsGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000340660	Transcript	inframe_insertion	784	726	242	Q/QQQQQQ	caA/caGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000340660.6:c.726delAinsGCAGCAGCAGCAGCAG	ENSP00000339110.6:p.Gln242_Gln243insGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000553488	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	968	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553488.1:c.*706delAinsGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000553309	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	925	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553309.1:n.925delAinsGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556274	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	816	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556274.1:c.*554delAinsGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000554672	Transcript	inframe_insertion	659	597	199	Q/QQQQQQ	caA/caGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000554672.1:c.597delAinsGCAGCAGCAGCAGCAG	ENSP00000451417.1:p.Gln199_Gln200insGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000555958	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	760	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000555958.1:n.760delAinsGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000393287	Transcript	inframe_insertion	949	891	297	Q/QQQQQQ	caA/caGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000393287.5:c.891delAinsGCAGCAGCAGCAGCAG	ENSP00000376965.5:p.Gln297_Gln298insGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556671	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	824	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556671.1:c.*469delAinsGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000503767	Transcript	inframe_insertion	894	846	282	Q/QQQQQQ	caA/caGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000503767.1:c.846delAinsGCAGCAGCAGCAGCAG	ENSP00000426697.1:p.Gln282_Gln283insGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000554214	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	674	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554214.1:n.674delAinsGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556315	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	824	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556315.1:c.*565delAinsGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556339	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	428	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556339.1:n.428delAinsGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000532032	Transcript	inframe_insertion	901	891	297	Q/QQQQQQ	caA/caGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000532032.1:c.891delAinsGCAGCAGCAGCAGCAG	ENSP00000437157.1:p.Gln297_Gln298insGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000554491	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	967	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554491.1:n.967delAinsGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000553498	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	814	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553498.1:n.814delAinsGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556958	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	672	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556958.1:c.*350delAinsGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000502250	Transcript	inframe_insertion	625	354	118	Q/QQQQQQ	caA/caGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000502250.1:c.354delAinsGCAGCAGCAGCAGCAG	ENSP00000425322.1:p.Gln118_Gln119insGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000553287	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	629	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553287.1:n.629delAinsGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000554350	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	846	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554350.1:c.*491delAinsGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556374	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	986	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556374.1:c.*619delAinsGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000545170	Transcript	inframe_insertion	987	918	306	Q/QQQQQQQQ	caA/caGCAGCAGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000545170.1:c.918delAinsGCAGCAGCAGCAGCAGCAGCAG	ENSP00000445618.1:p.Gln306_Gln307insGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556288	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	804	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556288.1:c.*542delAinsGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000557311	Transcript	inframe_insertion	462	354	118	Q/QQQQQQQQ	caA/caGCAGCAGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000557311.1:c.354delAinsGCAGCAGCAGCAGCAGCAGCAG	ENSP00000450642.1:p.Gln118_Gln119insGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556644	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	275	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556644.1:n.275delAinsGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000429774	Transcript	inframe_insertion	939	870	290	Q/QQQQQQQQ	caA/caGCAGCAGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000429774.2:c.870delAinsGCAGCAGCAGCAGCAGCAGCAG	ENSP00000389376.2:p.Gln290_Gln291insGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556220	Transcript	inframe_insertion	595	573	191	Q/QQQQQQQQ	caA/caGCAGCAGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000556220.1:c.573delAinsGCAGCAGCAGCAGCAGCAGCAG	ENSP00000450641.1:p.Gln191_Gln192insGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000554994	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	825	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554994.1:c.*350delAinsGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000554592	Transcript	inframe_insertion	910	888	296	Q/QQQQQQQQ	caA/caGCAGCAGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000554592.1:c.888delAinsGCAGCAGCAGCAGCAGCAGCAG	ENSP00000451385.1:p.Gln296_Gln297insGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000553491	Transcript	inframe_insertion	760	738	246	Q/QQQQQQQQ	caA/caGCAGCAGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000553491.1:c.738delAinsGCAGCAGCAGCAGCAGCAGCAG	ENSP00000451996.1:p.Gln246_Gln247insGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000557030	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	710	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000557030.1:c.*86delAinsGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000555381	Transcript	inframe_insertion	703	681	227	Q/QQQQQQQQ	caA/caGCAGCAGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000555381.1:c.681delAinsGCAGCAGCAGCAGCAGCAGCAG	ENSP00000451001.1:p.Gln227_Gln228insGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556898	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	890	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556898.1:c.*388delAinsGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000553686	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	772	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553686.1:n.772delAinsGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000359366	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	843	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000359366.5:c.*565delAinsGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000554040	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	495	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554040.1:n.495delAinsGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000526245	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	7106	processed_transcript	-	-	-	ENST00000526245.1:n.117-12248delAinsGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000555816	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	660	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555816.1:c.*398delAinsGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556082	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	563	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556082.1:c.*301delAinsGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000553570	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	660	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553570.1:c.*350delAinsGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000340660	Transcript	inframe_insertion	784	726	242	Q/QQQQQQQQ	caA/caGCAGCAGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000340660.6:c.726delAinsGCAGCAGCAGCAGCAGCAGCAG	ENSP00000339110.6:p.Gln242_Gln243insGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000553488	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	968	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553488.1:c.*706delAinsGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000553309	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	925	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553309.1:n.925delAinsGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556274	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	816	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556274.1:c.*554delAinsGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000554672	Transcript	inframe_insertion	659	597	199	Q/QQQQQQQQ	caA/caGCAGCAGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000554672.1:c.597delAinsGCAGCAGCAGCAGCAGCAGCAG	ENSP00000451417.1:p.Gln199_Gln200insGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000555958	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	760	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000555958.1:n.760delAinsGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000393287	Transcript	inframe_insertion	949	891	297	Q/QQQQQQQQ	caA/caGCAGCAGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000393287.5:c.891delAinsGCAGCAGCAGCAGCAGCAGCAG	ENSP00000376965.5:p.Gln297_Gln298insGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556671	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	824	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556671.1:c.*469delAinsGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000503767	Transcript	inframe_insertion	894	846	282	Q/QQQQQQQQ	caA/caGCAGCAGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000503767.1:c.846delAinsGCAGCAGCAGCAGCAGCAGCAG	ENSP00000426697.1:p.Gln282_Gln283insGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000554214	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	674	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554214.1:n.674delAinsGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556315	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	824	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556315.1:c.*565delAinsGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556339	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	428	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556339.1:n.428delAinsGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000532032	Transcript	inframe_insertion	901	891	297	Q/QQQQQQQQ	caA/caGCAGCAGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000532032.1:c.891delAinsGCAGCAGCAGCAGCAGCAGCAG	ENSP00000437157.1:p.Gln297_Gln298insGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000554491	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	967	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554491.1:n.967delAinsGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000553498	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	814	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553498.1:n.814delAinsGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556958	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	672	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556958.1:c.*350delAinsGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000502250	Transcript	inframe_insertion	625	354	118	Q/QQQQQQQQ	caA/caGCAGCAGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000502250.1:c.354delAinsGCAGCAGCAGCAGCAGCAGCAG	ENSP00000425322.1:p.Gln118_Gln119insGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000553287	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	629	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553287.1:n.629delAinsGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000554350	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	846	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554350.1:c.*491delAinsGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556374	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	986	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556374.1:c.*619delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000545170	Transcript	inframe_insertion	987	918	306	Q/QQQQQQQQQ	caA/caGCAGCAGCAGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000545170.1:c.918delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000445618.1:p.Gln306_Gln307insGlnGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556288	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	804	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556288.1:c.*542delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000557311	Transcript	inframe_insertion	462	354	118	Q/QQQQQQQQQ	caA/caGCAGCAGCAGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000557311.1:c.354delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000450642.1:p.Gln118_Gln119insGlnGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556644	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	275	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556644.1:n.275delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000429774	Transcript	inframe_insertion	939	870	290	Q/QQQQQQQQQ	caA/caGCAGCAGCAGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000429774.2:c.870delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000389376.2:p.Gln290_Gln291insGlnGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556220	Transcript	inframe_insertion	595	573	191	Q/QQQQQQQQQ	caA/caGCAGCAGCAGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000556220.1:c.573delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000450641.1:p.Gln191_Gln192insGlnGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000554994	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	825	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554994.1:c.*350delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000554592	Transcript	inframe_insertion	910	888	296	Q/QQQQQQQQQ	caA/caGCAGCAGCAGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000554592.1:c.888delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000451385.1:p.Gln296_Gln297insGlnGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000553491	Transcript	inframe_insertion	760	738	246	Q/QQQQQQQQQ	caA/caGCAGCAGCAGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000553491.1:c.738delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000451996.1:p.Gln246_Gln247insGlnGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000557030	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	710	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000557030.1:c.*86delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000555381	Transcript	inframe_insertion	703	681	227	Q/QQQQQQQQQ	caA/caGCAGCAGCAGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000555381.1:c.681delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000451001.1:p.Gln227_Gln228insGlnGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556898	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	890	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556898.1:c.*388delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000553686	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	772	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553686.1:n.772delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000359366	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	843	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000359366.5:c.*565delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000554040	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	495	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554040.1:n.495delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000526245	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	7106	processed_transcript	-	-	-	ENST00000526245.1:n.117-12248delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000555816	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	660	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555816.1:c.*398delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556082	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	563	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556082.1:c.*301delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000553570	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	660	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553570.1:c.*350delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000340660	Transcript	inframe_insertion	784	726	242	Q/QQQQQQQQQ	caA/caGCAGCAGCAGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000340660.6:c.726delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000339110.6:p.Gln242_Gln243insGlnGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000553488	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	968	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000553488.1:c.*706delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000553309	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	925	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553309.1:n.925delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556274	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	816	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556274.1:c.*554delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000554672	Transcript	inframe_insertion	659	597	199	Q/QQQQQQQQQ	caA/caGCAGCAGCAGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000554672.1:c.597delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000451417.1:p.Gln199_Gln200insGlnGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000555958	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	760	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000555958.1:n.760delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000393287	Transcript	inframe_insertion	949	891	297	Q/QQQQQQQQQ	caA/caGCAGCAGCAGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000393287.5:c.891delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000376965.5:p.Gln297_Gln298insGlnGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556671	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	824	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556671.1:c.*469delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000503767	Transcript	inframe_insertion	894	846	282	Q/QQQQQQQQQ	caA/caGCAGCAGCAGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000503767.1:c.846delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000426697.1:p.Gln282_Gln283insGlnGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000554214	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	674	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554214.1:n.674delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556315	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	824	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556315.1:c.*565delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556339	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	428	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000556339.1:n.428delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000532032	Transcript	inframe_insertion	901	891	297	Q/QQQQQQQQQ	caA/caGCAGCAGCAGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000532032.1:c.891delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000437157.1:p.Gln297_Gln298insGlnGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000554491	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	967	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000554491.1:n.967delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000553498	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	814	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553498.1:n.814delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000556958	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	672	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556958.1:c.*350delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000502250	Transcript	inframe_insertion	625	354	118	Q/QQQQQQQQQ	caA/caGCAGCAGCAGCAGCAGCAGCAGCAG	COSM433493	-	-1	ATXN3	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000502250.1:c.354delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000425322.1:p.Gln118_Gln119insGlnGlnGlnGlnGlnGlnGlnGln	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000553287	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	629	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	processed_transcript	-	-	-	ENST00000553287.1:n.629delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:92537378-92537379	CTGCTGCTGCTGCTGCTGCTGCTGC	ENSG00000066427	ENST00000554350	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	846	-	-	-	-	COSM433493	-	-1	ATXN3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000554350.1:c.*491delAinsGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	14:93532677-93532682	-	ENSG00000258730	ENST00000553639	Transcript	upstream_gene_variant	-	-	-	-	-	-	1115	1	ITPK1-AS1	HGNC	20132	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:93532677-93532682	-	ENSG00000100605	ENST00000555553	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ITPK1	HGNC	-	protein_coding	-	-	-	ENST00000555553.1:c.120+10258_120+10262delACACA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:93532677-93532682	-	ENSG00000100605	ENST00000267615	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ITPK1	HGNC	6177	protein_coding	-	-	-	ENST00000267615.6:c.120+10258_120+10262delACACA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:93532677-93532682	-	ENSG00000100605	ENST00000557309	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ITPK1	HGNC	-	protein_coding	-	-	-	ENST00000557309.1:c.120+10258_120+10262delACACA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:93532677-93532682	-	ENSG00000100605	ENST00000556603	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ITPK1	HGNC	-	protein_coding	-	-	-	ENST00000556603.2:c.120+10258_120+10262delACACA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:93532677-93532682	-	ENSG00000100605	ENST00000556185	Transcript	frameshift_variant,feature_truncation	22-26	22-26	8-9	-	-	-	-	-1	ITPK1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50316	ENST00000556185.1:c.22_26delACACA	ENSP00000451323.1:p.Thr8HisfsTer28	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:93532677-93532682	-	ENSG00000100605	ENST00000553452	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ITPK1	HGNC	-	protein_coding	-	-	-	ENST00000553452.1:c.120+10258_120+10262delACACA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:93532677-93532682	-	ENSG00000100605	ENST00000554999	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ITPK1	HGNC	-	protein_coding	-	-	-	ENST00000554999.1:c.120+10258_120+10262delACACA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:93532677-93532682	-	ENSG00000100605	ENST00000354313	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ITPK1	HGNC	-	protein_coding	-	-	-	ENST00000354313.3:c.120+10258_120+10262delACACA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:93532677-93532682	-	ENSG00000100605	ENST00000555495	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ITPK1	HGNC	-	protein_coding	-	-	-	ENST00000555495.1:c.-238+48732_-238+48736delACACA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:93532677-93532682	-	-	ENSR00000241622	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:93532677-93532687	GGGG	ENSG00000258730	ENST00000553639	Transcript	upstream_gene_variant	-	-	-	-	-	-	1110	1	ITPK1-AS1	HGNC	20132	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:93532677-93532687	GGGG	ENSG00000100605	ENST00000555553	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ITPK1	HGNC	-	protein_coding	-	-	-	ENST00000555553.1:c.120+10253_120+10262delTACACACACAinsCCCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:93532677-93532687	GGGG	ENSG00000100605	ENST00000267615	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ITPK1	HGNC	6177	protein_coding	-	-	-	ENST00000267615.6:c.120+10253_120+10262delTACACACACAinsCCCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:93532677-93532687	GGGG	ENSG00000100605	ENST00000557309	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ITPK1	HGNC	-	protein_coding	-	-	-	ENST00000557309.1:c.120+10253_120+10262delTACACACACAinsCCCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:93532677-93532687	GGGG	ENSG00000100605	ENST00000556603	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ITPK1	HGNC	-	protein_coding	-	-	-	ENST00000556603.2:c.120+10253_120+10262delTACACACACAinsCCCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:93532677-93532687	GGGG	ENSG00000100605	ENST00000556185	Transcript	feature_truncation	17-26	17-26	6-9	LHTH/PP	cTACACACACAc/cCCCCc	-	-	-1	ITPK1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50316	ENST00000556185.1:c.17_26delTACACACACAinsCCCC	ENSP00000451323.1:p.Leu6_His9delinsProPro	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:93532677-93532687	GGGG	ENSG00000100605	ENST00000553452	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ITPK1	HGNC	-	protein_coding	-	-	-	ENST00000553452.1:c.120+10253_120+10262delTACACACACAinsCCCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:93532677-93532687	GGGG	ENSG00000100605	ENST00000554999	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ITPK1	HGNC	-	protein_coding	-	-	-	ENST00000554999.1:c.120+10253_120+10262delTACACACACAinsCCCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:93532677-93532687	GGGG	ENSG00000100605	ENST00000354313	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ITPK1	HGNC	-	protein_coding	-	-	-	ENST00000354313.3:c.120+10253_120+10262delTACACACACAinsCCCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:93532677-93532687	GGGG	ENSG00000100605	ENST00000555495	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ITPK1	HGNC	-	protein_coding	-	-	-	ENST00000555495.1:c.-238+48727_-238+48736delTACACACACAinsCCCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:93532677-93532687	GGGG	-	ENSR00000241622	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:93532677-93532689	GGGGGGC	ENSG00000258730	ENST00000553639	Transcript	upstream_gene_variant	-	-	-	-	-	-	1108	1	ITPK1-AS1	HGNC	20132	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:93532677-93532689	GGGGGGC	ENSG00000100605	ENST00000555553	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ITPK1	HGNC	-	protein_coding	-	-	-	ENST00000555553.1:c.120+10251_120+10262delCCTACACACACAinsGCCCCCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:93532677-93532689	GGGGGGC	ENSG00000100605	ENST00000267615	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ITPK1	HGNC	6177	protein_coding	-	-	-	ENST00000267615.6:c.120+10251_120+10262delCCTACACACACAinsGCCCCCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:93532677-93532689	GGGGGGC	ENSG00000100605	ENST00000557309	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ITPK1	HGNC	-	protein_coding	-	-	-	ENST00000557309.1:c.120+10251_120+10262delCCTACACACACAinsGCCCCCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:93532677-93532689	GGGGGGC	ENSG00000100605	ENST00000556603	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ITPK1	HGNC	-	protein_coding	-	-	-	ENST00000556603.2:c.120+10251_120+10262delCCTACACACACAinsGCCCCCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:93532677-93532689	GGGGGGC	ENSG00000100605	ENST00000556185	Transcript	frameshift_variant,feature_truncation	15-26	15-26	5-9	-	-	-	-	-1	ITPK1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50316	ENST00000556185.1:c.15_26delCCTACACACACAinsGCCCCCC	ENSP00000451323.1:p.Leu6ProfsTer30	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:93532677-93532689	GGGGGGC	ENSG00000100605	ENST00000553452	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ITPK1	HGNC	-	protein_coding	-	-	-	ENST00000553452.1:c.120+10251_120+10262delCCTACACACACAinsGCCCCCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:93532677-93532689	GGGGGGC	ENSG00000100605	ENST00000554999	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ITPK1	HGNC	-	protein_coding	-	-	-	ENST00000554999.1:c.120+10251_120+10262delCCTACACACACAinsGCCCCCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:93532677-93532689	GGGGGGC	ENSG00000100605	ENST00000354313	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ITPK1	HGNC	-	protein_coding	-	-	-	ENST00000354313.3:c.120+10251_120+10262delCCTACACACACAinsGCCCCCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:93532677-93532689	GGGGGGC	ENSG00000100605	ENST00000555495	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	ITPK1	HGNC	-	protein_coding	-	-	-	ENST00000555495.1:c.-238+48725_-238+48736delCCTACACACACAinsGCCCCCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:93532677-93532689	GGGGGGC	-	ENSR00000241622	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:95085546-95085553	CCCCCAAGATACTCATCATTTGA	ENSG00000196136	ENST00000556388	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	TMP_ESP_14_95085547_95085553	-	1	SERPINA3	HGNC	-	processed_transcript	-	-	-	ENST00000556388.1:n.58-3131_58-3125delCCTTTGAinsCCCCCAAGATACTCATCATTTGA	-	-	-	-	-	-	-:0.000235	-:0.000121	-	-	-	-	-	-
.	14:95085546-95085553	-	ENSG00000196136	ENST00000556388	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	TMP_ESP_14_95085547_95085553	-	1	SERPINA3	HGNC	-	processed_transcript	-	-	-	ENST00000556388.1:n.58-3131_58-3125delCCTTTGA	-	-	-	-	-	-	-:0.000235	-:0.000121	-	-	-	-	-	-
.	14:95085546-95085553	CCCCCAAGATACTCATCATTTGA	ENSG00000196136	ENST00000393078	Transcript	frameshift_variant,feature_elongation	738-744	659-665	220-222	-	-	TMP_ESP_14_95085547_95085553	-	1	SERPINA3	HGNC	-	protein_coding	-	-	Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	ENST00000393078.3:c.659_665delCCTTTGAinsCCCCCAAGATACTCATCATTTGA	ENSP00000376793.3:p.Phe221ProfsTer7	-	-	-	-	-	-:0.000235	-:0.000121	-	-	-	-	-	-
.	14:95085546-95085553	-	ENSG00000196136	ENST00000393078	Transcript	frameshift_variant,feature_truncation	738-744	659-665	220-222	-	-	TMP_ESP_14_95085547_95085553	-	1	SERPINA3	HGNC	-	protein_coding	-	-	Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	ENST00000393078.3:c.659_665delCCTTTGA	ENSP00000376793.3:p.Phe221ProfsTer11	-	-	-	-	-	-:0.000235	-:0.000121	-	-	-	-	-	-
.	14:95085546-95085553	CCCCCAAGATACTCATCATTTGA	ENSG00000196136	ENST00000482740	Transcript	frameshift_variant,feature_elongation	1569-1575	5-11	2-4	-	-	TMP_ESP_14_95085547_95085553	-	1	SERPINA3	HGNC	-	protein_coding	-	-	Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	ENST00000482740.1:c.5_11delCCTTTGAinsCCCCCAAGATACTCATCATTTGA	ENSP00000451119.1:p.Phe3ProfsTer7	-	-	-	-	-	-:0.000235	-:0.000121	-	-	-	-	-	-
.	14:95085546-95085553	-	ENSG00000196136	ENST00000482740	Transcript	frameshift_variant,feature_truncation	1569-1575	5-11	2-4	-	-	TMP_ESP_14_95085547_95085553	-	1	SERPINA3	HGNC	-	protein_coding	-	-	Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	ENST00000482740.1:c.5_11delCCTTTGA	ENSP00000451119.1:p.Phe3ProfsTer11	-	-	-	-	-	-:0.000235	-:0.000121	-	-	-	-	-	-
.	14:95085546-95085553	CCCCCAAGATACTCATCATTTGA	ENSG00000273259	ENST00000553947	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	1622-1628	-	-	-	-	TMP_ESP_14_95085547_95085553	-	1	RP11-986E7.7	Clone_based_vega_gene	-	nonsense_mediated_decay	-	-	-	ENST00000553947.1:c.*1485_*1491delCCTTTGAinsCCCCCAAGATACTCATCATTTGA	-	-	-	-	-	-	-:0.000235	-:0.000121	-	-	-	-	-	-
.	14:95085546-95085553	-	ENSG00000273259	ENST00000553947	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_truncation	1622-1628	-	-	-	-	TMP_ESP_14_95085547_95085553	-	1	RP11-986E7.7	Clone_based_vega_gene	-	nonsense_mediated_decay	-	-	-	ENST00000553947.1:c.*1485_*1491delCCTTTGA	-	-	-	-	-	-	-:0.000235	-:0.000121	-	-	-	-	-	-
.	14:95085546-95085553	CCCCCAAGATACTCATCATTTGA	ENSG00000196136	ENST00000467132	Transcript	frameshift_variant,feature_elongation	1807-1813	659-665	220-222	-	-	TMP_ESP_14_95085547_95085553	-	1	SERPINA3	HGNC	-	protein_coding	-	-	Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	ENST00000467132.1:c.659_665delCCTTTGAinsCCCCCAAGATACTCATCATTTGA	ENSP00000450540.1:p.Phe221ProfsTer7	-	-	-	-	-	-:0.000235	-:0.000121	-	-	-	-	-	-
.	14:95085546-95085553	-	ENSG00000196136	ENST00000467132	Transcript	frameshift_variant,feature_truncation	1807-1813	659-665	220-222	-	-	TMP_ESP_14_95085547_95085553	-	1	SERPINA3	HGNC	-	protein_coding	-	-	Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	ENST00000467132.1:c.659_665delCCTTTGA	ENSP00000450540.1:p.Phe221ProfsTer11	-	-	-	-	-	-:0.000235	-:0.000121	-	-	-	-	-	-
.	14:95085546-95085553	CCCCCAAGATACTCATCATTTGA	ENSG00000196136	ENST00000393080	Transcript	frameshift_variant,feature_elongation	727-733	659-665	220-222	-	-	TMP_ESP_14_95085547_95085553	-	1	SERPINA3	HGNC	-	protein_coding	-	-	Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	ENST00000393080.4:c.659_665delCCTTTGAinsCCCCCAAGATACTCATCATTTGA	ENSP00000376795.4:p.Phe221ProfsTer7	-	-	-	-	-	-:0.000235	-:0.000121	-	-	-	-	-	-
.	14:95085546-95085553	-	ENSG00000196136	ENST00000393080	Transcript	frameshift_variant,feature_truncation	727-733	659-665	220-222	-	-	TMP_ESP_14_95085547_95085553	-	1	SERPINA3	HGNC	-	protein_coding	-	-	Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	ENST00000393080.4:c.659_665delCCTTTGA	ENSP00000376795.4:p.Phe221ProfsTer11	-	-	-	-	-	-:0.000235	-:0.000121	-	-	-	-	-	-
.	14:95085546-95085553	CCCCCAAGATACTCATCATTTGA	ENSG00000196136	ENST00000555820	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	723-729	-	-	-	-	TMP_ESP_14_95085547_95085553	-	1	SERPINA3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555820.1:c.*582_*588delCCTTTGAinsCCCCCAAGATACTCATCATTTGA	-	-	-	-	-	-	-:0.000235	-:0.000121	-	-	-	-	-	-
.	14:95085546-95085553	-	ENSG00000196136	ENST00000555820	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_truncation	723-729	-	-	-	-	TMP_ESP_14_95085547_95085553	-	1	SERPINA3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555820.1:c.*582_*588delCCTTTGA	-	-	-	-	-	-	-:0.000235	-:0.000121	-	-	-	-	-	-
.	14:95085546-95085553	CCCCCAAGATACTCATCATTTGA	ENSG00000196136	ENST00000556968	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	TMP_ESP_14_95085547_95085553	-	1	SERPINA3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556968.1:c.644-3131_644-3125delCCTTTGAinsCCCCCAAGATACTCATCATTTGA	-	-	-	-	-	-	-:0.000235	-:0.000121	-	-	-	-	-	-
.	14:95085546-95085553	-	ENSG00000196136	ENST00000556968	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	TMP_ESP_14_95085547_95085553	-	1	SERPINA3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556968.1:c.644-3131_644-3125delCCTTTGA	-	-	-	-	-	-	-:0.000235	-:0.000121	-	-	-	-	-	-
.	14:95085548-95085550	CCCAAGATACTCATCAGA	ENSG00000196136	ENST00000556388	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	SERPINA3	HGNC	-	processed_transcript	-	-	-	ENST00000556388.1:n.58-3129_58-3128delTTinsCCCAAGATACTCATCAGA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:95085548-95085550	CCCAAGATACTCATCAGA	ENSG00000196136	ENST00000393078	Transcript	frameshift_variant,feature_elongation	740-741	661-662	221	-	-	-	-	1	SERPINA3	HGNC	-	protein_coding	-	-	Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	ENST00000393078.3:c.661_662delTTinsCCCAAGATACTCATCAGA	ENSP00000376793.3:p.Phe221ProfsTer7	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:95085548-95085550	CCCAAGATACTCATCAGA	ENSG00000196136	ENST00000482740	Transcript	frameshift_variant,feature_elongation	1571-1572	7-8	3	-	-	-	-	1	SERPINA3	HGNC	-	protein_coding	-	-	Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	ENST00000482740.1:c.7_8delTTinsCCCAAGATACTCATCAGA	ENSP00000451119.1:p.Phe3ProfsTer7	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:95085548-95085550	CCCAAGATACTCATCAGA	ENSG00000273259	ENST00000553947	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	1624-1625	-	-	-	-	-	-	1	RP11-986E7.7	Clone_based_vega_gene	-	nonsense_mediated_decay	-	-	-	ENST00000553947.1:c.*1487_*1488delTTinsCCCAAGATACTCATCAGA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:95085548-95085550	CCCAAGATACTCATCAGA	ENSG00000196136	ENST00000467132	Transcript	frameshift_variant,feature_elongation	1809-1810	661-662	221	-	-	-	-	1	SERPINA3	HGNC	-	protein_coding	-	-	Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	ENST00000467132.1:c.661_662delTTinsCCCAAGATACTCATCAGA	ENSP00000450540.1:p.Phe221ProfsTer7	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:95085548-95085550	CCCAAGATACTCATCAGA	ENSG00000196136	ENST00000393080	Transcript	frameshift_variant,feature_elongation	729-730	661-662	221	-	-	-	-	1	SERPINA3	HGNC	-	protein_coding	-	-	Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	ENST00000393080.4:c.661_662delTTinsCCCAAGATACTCATCAGA	ENSP00000376795.4:p.Phe221ProfsTer7	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:95085548-95085550	CCCAAGATACTCATCAGA	ENSG00000196136	ENST00000555820	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	725-726	-	-	-	-	-	-	1	SERPINA3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000555820.1:c.*584_*585delTTinsCCCAAGATACTCATCAGA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:95085548-95085550	CCCAAGATACTCATCAGA	ENSG00000196136	ENST00000556968	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	SERPINA3	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000556968.1:c.644-3129_644-3128delTTinsCCCAAGATACTCATCAGA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:106359403-106359416	TCGTAGCCACTATATT	ENSG00000211915	ENST00000390575	Transcript	inframe_insertion	4-16	4-16	2-6	DTAMV/NIVATI	GATACAGCTATGGtt/AATATAGTGGCTACGAtt	-	-	-1	IGHD5-18	HGNC	5509	IG_D_gene	-	-	-	ENST00000390575.1:c.4_16delGATACAGCTATGGinsAATATAGTGGCTACGA	ENSP00000417555.1:p.Asp2_Val6delinsAsnIleValAlaThrIle	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:106359403-106359416	TCGTAGCCACTATATT	ENSG00000211914	ENST00000390574	Transcript	upstream_gene_variant	-	-	-	-	-	-	1827	-1	IGHD6-19	HGNC	5515	IG_D_gene	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:106359403-106359416	TCGTAGCCACTATATT	ENSG00000211918	ENST00000390578	Transcript	downstream_gene_variant	-	-	-	-	-	-	4399	-1	IGHD2-15	HGNC	5489	IG_D_gene	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:106359403-106359416	TCGTAGCCACTATATT	ENSG00000244620	ENST00000418566	Transcript	upstream_gene_variant	-	-	-	-	-	-	1088	1	AL122127.25	Clone_based_vega_gene	-	lincRNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:106359403-106359416	TCGTAGCCACTATATT	ENSG00000211912	ENST00000390572	Transcript	upstream_gene_variant	-	-	-	-	-	-	4968	-1	IGHD2-21	HGNC	5491	IG_D_gene	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:106359403-106359416	TCGTAGCCACTATATT	ENSG00000237020	ENST00000450276	Transcript	upstream_gene_variant	-	-	-	-	-	-	2339	-1	IGHD1-20	HGNC	5484	IG_D_gene	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:106359403-106359416	TCGTAGCCACTATATT	ENSG00000227800	ENST00000431870	Transcript	downstream_gene_variant	-	-	-	-	-	-	950	-1	IGHD4-17	HGNC	5503	IG_D_gene	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:106359403-106359416	TCGTAGCCACTATATT	ENSG00000244620	ENST00000414005	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	AL122127.25	Clone_based_vega_gene	-	lincRNA	-	-	-	ENST00000414005.1:n.115-2437_115-2425delCCATAGCTGTATCinsTCGTAGCCACTATATT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:106359403-106359416	TCGTAGCCACTATATT	ENSG00000211917	ENST00000390577	Transcript	downstream_gene_variant	-	-	-	-	-	-	2076	-1	IGHD3-16	HGNC	5496	IG_D_gene	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:107095323-107095329	-	ENSG00000253132	ENST00000520057	Transcript	downstream_gene_variant	-	-	-	-	-	-	3816	-1	IGHV3-62	HGNC	5615	IG_V_pseudogene	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:107095323-107095329	-	ENSG00000211970	ENST00000390630	Transcript	inframe_deletion	252-257	151-156	51-52	GG/-	GGTGGT/-	-	-	-1	IGHV4-61	HGNC	5655	IG_V_gene	-	-	Pfam_domain:PF07686,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50835,SMART_domains:SM00406,Superfamily_domains:SSF48726	ENST00000390630.2:c.151_156delGGTGGT	ENSP00000375039.2:p.Gly51_Gly52del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:107095323-107095329	-	ENSG00000199480	ENST00000362610	Transcript	downstream_gene_variant	-	-	-	-	-	-	2533	1	RNA5SP357	HGNC	43257	rRNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:107095323-107095329	-	ENSG00000254329	ENST00000519079	Transcript	upstream_gene_variant	-	-	-	-	-	-	1346	-1	IGHVII-60-1	HGNC	5686	IG_V_pseudogene	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:107095325-107095333	TA	ENSG00000253132	ENST00000520057	Transcript	downstream_gene_variant	-	-	-	-	-	-	3812	-1	IGHV3-62	HGNC	5615	IG_V_pseudogene	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:107095325-107095333	TA	ENSG00000211970	ENST00000390630	Transcript	feature_truncation	248-255	147-154	49-52	SSGG/SS	agCAGTGGTGgt/agTAgt	-	-	-1	IGHV4-61	HGNC	5655	IG_V_gene	-	-	Pfam_domain:PF07686,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50835,SMART_domains:SM00406,Superfamily_domains:SSF48726	ENST00000390630.2:c.147_154delCAGTGGTGinsTA	ENSP00000375039.2:p.Gly51_Gly52del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:107095325-107095333	TA	ENSG00000199480	ENST00000362610	Transcript	downstream_gene_variant	-	-	-	-	-	-	2535	1	RNA5SP357	HGNC	43257	rRNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	14:107095325-107095333	TA	ENSG00000254329	ENST00000519079	Transcript	upstream_gene_variant	-	-	-	-	-	-	1348	-1	IGHVII-60-1	HGNC	5686	IG_V_pseudogene	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	15:40631741-40631774	CCACAC	ENSG00000188549	ENST00000557973	Transcript	downstream_gene_variant	-	-	-	-	-	-	15	-1	C15orf52	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	15:40631741-40631774	CCACAC	ENSG00000188549	ENST00000558858	Transcript	upstream_gene_variant	-	-	-	-	-	-	1501	-1	C15orf52	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	15:40631741-40631774	CCACAC	ENSG00000188549	ENST00000397536	Transcript	upstream_gene_variant	-	-	-	-	-	-	1408	-1	C15orf52	HGNC	33488	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	15:40631741-40631774	CCACAC	ENSG00000188549	ENST00000382688	Transcript	upstream_gene_variant	-	-	-	-	-	-	565	-1	C15orf52	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	15:40631741-40631774	CCACAC	ENSG00000188549	ENST00000560922	Transcript	feature_truncation	185-217	134-166	45-56	VTTPALLQPDGL/GVV	gTGACCACACCAGCACTCCTCCAGCCTGATGGCCtc/gGTGTGGtc	-	-	-1	C15orf52	HGNC	-	protein_coding	-	-	-	ENST00000560922.1:c.134_166delTGACCACACCAGCACTCCTCCAGCCTGATGGCCinsGTGTGG	ENSP00000453500.1:p.Val45_Leu56delinsGlyValVal	-	-	-	-	-	-	-	-	-	-	-	-	-
.	15:40631741-40631774	CCACAC	ENSG00000188549	ENST00000558912	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	781-813	-	-	-	-	-	-	-1	C15orf52	HGNC	-	retained_intron	-	-	-	ENST00000558912.1:n.781_813delTGACCACACCAGCACTCCTCCAGCCTGATGGCCinsGTGTGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	15:40631741-40631774	CCACAC	ENSG00000188549	ENST00000559313	Transcript	feature_truncation	318-350	302-334	101-112	VTTPALLQPDGL/GVV	gTGACCACACCAGCACTCCTCCAGCCTGATGGCCtc/gGTGTGGtc	-	-	-1	C15orf52	HGNC	-	protein_coding	-	-	-	ENST00000559313.1:c.302_334delTGACCACACCAGCACTCCTCCAGCCTGATGGCCinsGTGTGG	ENSP00000453969.1:p.Val101_Leu112delinsGlyValVal	-	-	-	-	-	-	-	-	-	-	-	-	-
.	15:40631741-40631774	CCACAC	-	ENSR00000406619	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	15:74836313-74836316	-	ENSG00000179361	ENST00000566147	Transcript	upstream_gene_variant	-	-	-	-	-	TMP_ESP_15_74836314_74836316	375	1	ARID3B	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-:0.262230	-:0.103080	-	-	-	-	-	-
.	15:74836313-74836316	-	ENSG00000179361	ENST00000346246	Transcript	inframe_deletion	268-270	37-39	13	Q/-	CAA/-	TMP_ESP_15_74836314_74836316	-	1	ARID3B	HGNC	14350	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000346246.5:c.37_39delCAA	ENSP00000343126.5:p.Gln13del	-	-	-	-	-	-:0.262230	-:0.103080	-	-	-	-	-	-
.	15:74836313-74836316	-	ENSG00000179361	ENST00000569680	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	181-183	-	-	-	-	TMP_ESP_15_74836314_74836316	-	1	ARID3B	HGNC	-	retained_intron	-	-	-	ENST00000569680.1:n.181_183delCAA	-	-	-	-	-	-	-:0.262230	-:0.103080	-	-	-	-	-	-
.	15:74836313-74836316	-	-	ENSR00000022163	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	TMP_ESP_15_74836314_74836316	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-:0.262230	-:0.103080	-	-	-	-	-	-
.	15:74836315-74836319	GCAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000179361	ENST00000566147	Transcript	upstream_gene_variant	-	-	-	-	-	-	372	1	ARID3B	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	15:74836315-74836319	GCAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000179361	ENST00000346246	Transcript	inframe_insertion	270-273	39-42	13-14	QQ/QQQQQQQQQ	caACAA/caGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	1	ARID3B	HGNC	14350	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000346246.5:c.39_42delACAAinsGCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000343126.5:p.Gln8_Gln14dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	15:74836315-74836319	GCAGCAGCAGCAGCAGCAGCAGCAG	ENSG00000179361	ENST00000569680	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	183-186	-	-	-	-	-	-	1	ARID3B	HGNC	-	retained_intron	-	-	-	ENST00000569680.1:n.183_186delACAAinsGCAGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	15:74836315-74836319	GCAGCAGCAGCAGCAGCAGCAGCAG	-	ENSR00000022163	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	15:74836315-74836319	GCAGCAGCAGCAGCAGCAGCAG	ENSG00000179361	ENST00000566147	Transcript	upstream_gene_variant	-	-	-	-	-	-	372	1	ARID3B	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	15:74836315-74836319	GCAGCAGCAGCAGCAGCAGCAG	ENSG00000179361	ENST00000346246	Transcript	inframe_insertion	270-273	39-42	13-14	QQ/QQQQQQQQ	caACAA/caGCAGCAGCAGCAGCAGCAGCAG	-	-	1	ARID3B	HGNC	14350	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000346246.5:c.39_42delACAAinsGCAGCAGCAGCAGCAGCAGCAG	ENSP00000343126.5:p.Gln9_Gln14dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	15:74836315-74836319	GCAGCAGCAGCAGCAGCAGCAG	ENSG00000179361	ENST00000569680	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	183-186	-	-	-	-	-	-	1	ARID3B	HGNC	-	retained_intron	-	-	-	ENST00000569680.1:n.183_186delACAAinsGCAGCAGCAGCAGCAGCAGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	15:74836315-74836319	GCAGCAGCAGCAGCAGCAGCAG	-	ENSR00000022163	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310018	AGCT	ENSG00000167930	ENST00000442458	Transcript	frameshift_variant,feature_truncation	588-598	426-436	142-146	-	-	-	-	1	ITFG3	HGNC	-	protein_coding	-	-	Superfamily_domains:SSF50998	ENST00000442458.2:c.426_436delGGCCAACGGCAinsAGCT	ENSP00000397477.2:p.Asn144AlafsTer65	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310018	AGCT	ENSG00000167930	ENST00000420046	Transcript	frameshift_variant,feature_truncation	733-743	426-436	142-146	-	-	-	-	1	ITFG3	HGNC	-	protein_coding	-	-	Superfamily_domains:SSF50998	ENST00000420046.1:c.426_436delGGCCAACGGCAinsAGCT	ENSP00000398433.1:p.Asn144AlafsTer65	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310018	AGCT	ENSG00000167930	ENST00000450082	Transcript	frameshift_variant,feature_truncation	570-580	426-436	142-146	-	-	-	-	1	ITFG3	HGNC	-	protein_coding	-	-	Superfamily_domains:SSF50998	ENST00000450082.2:c.426_436delGGCCAACGGCAinsAGCT	ENSP00000411394.2:p.Asn144AlafsTer65	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310018	AGCT	ENSG00000167930	ENST00000301679	Transcript	frameshift_variant,feature_truncation	621-631	426-436	142-146	-	-	-	-	1	ITFG3	HGNC	-	protein_coding	-	-	Superfamily_domains:SSF50998	ENST00000301679.2:c.426_436delGGCCAACGGCAinsAGCT	ENSP00000301679.2:p.Asn144AlafsTer65	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310018	AGCT	ENSG00000167930	ENST00000421000	Transcript	frameshift_variant,feature_truncation	212-222	213-223	71-75	-	-	-	-	1	ITFG3	HGNC	-	protein_coding	-	-	-	ENST00000421000.1:c.212_222delGGCCAACGGCAinsAGCT	ENSP00000412581.1:p.Asn73AlafsTer84	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310018	AGCT	ENSG00000167930	ENST00000453430	Transcript	frameshift_variant,feature_truncation	702-712	426-436	142-146	-	-	-	-	1	ITFG3	HGNC	-	protein_coding	-	-	Superfamily_domains:SSF50998	ENST00000453430.1:c.426_436delGGCCAACGGCAinsAGCT	ENSP00000399150.1:p.Asn144AlafsTer65	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310018	AGCT	ENSG00000167930	ENST00000424016	Transcript	upstream_gene_variant	-	-	-	-	-	-	2489	1	ITFG3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310018	AGCT	ENSG00000167930	ENST00000496874	Transcript	downstream_gene_variant	-	-	-	-	-	-	489	1	ITFG3	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310018	AGCT	ENSG00000167930	ENST00000301678	Transcript	frameshift_variant,feature_truncation	570-580	426-436	142-146	-	-	-	-	1	ITFG3	HGNC	-	protein_coding	-	-	Superfamily_domains:SSF50998	ENST00000301678.3:c.426_436delGGCCAACGGCAinsAGCT	ENSP00000301678.3:p.Asn144AlafsTer65	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310018	AGCT	ENSG00000167930	ENST00000399932	Transcript	frameshift_variant,feature_truncation	877-887	426-436	142-146	-	-	-	-	1	ITFG3	HGNC	14163	protein_coding	-	-	Superfamily_domains:SSF50998	ENST00000399932.3:c.426_436delGGCCAACGGCAinsAGCT	ENSP00000382814.3:p.Asn144AlafsTer65	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310018	AGCT	ENSG00000269881	ENST00000600536	Transcript	frameshift_variant,feature_truncation	567-577	426-436	142-146	-	-	-	-	1	ITFG3	Uniprot_gn	-	protein_coding	-	-	Superfamily_domains:SSF50998	ENST00000600536.1:c.426_436delGGCCAACGGCAinsAGCT	ENSP00000471331.1:p.Asn144AlafsTer65	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310018	AGCT	ENSG00000167930	ENST00000438220	Transcript	downstream_gene_variant	-	-	-	-	-	-	6	1	ITFG3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310018	AGCT	ENSG00000167930	ENST00000449945	Transcript	frameshift_variant,feature_truncation	558-568	399-409	133-137	-	-	-	-	1	ITFG3	HGNC	-	protein_coding	-	-	Superfamily_domains:SSF50998	ENST00000449945.1:c.399_409delGGCCAACGGCAinsAGCT	ENSP00000407669.1:p.Asn135AlafsTer65	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310018	AGCT	ENSG00000167930	ENST00000419173	Transcript	downstream_gene_variant	-	-	-	-	-	-	488	1	ITFG3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310018	AGCT	ENSG00000167930	ENST00000468354	Transcript	upstream_gene_variant	-	-	-	-	-	-	1186	1	ITFG3	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310018	AGCT	ENSG00000167930	ENST00000420500	Transcript	coding_sequence_variant,3_prime_UTR_variant,feature_truncation	459-?	309-?	103-?	-	-	-	-	1	ITFG3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310018	AGCT	-	ENSR00001502937	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310014	-	ENSG00000167930	ENST00000442458	Transcript	frameshift_variant,feature_truncation	588-594	426-432	142-144	-	-	-	-	1	ITFG3	HGNC	-	protein_coding	-	-	Superfamily_domains:SSF50998	ENST00000442458.2:c.426_432delGGCCAAC	ENSP00000397477.2:p.Asn144AlafsTer65	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310014	-	ENSG00000167930	ENST00000420046	Transcript	frameshift_variant,feature_truncation	733-739	426-432	142-144	-	-	-	-	1	ITFG3	HGNC	-	protein_coding	-	-	Superfamily_domains:SSF50998	ENST00000420046.1:c.426_432delGGCCAAC	ENSP00000398433.1:p.Asn144AlafsTer65	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310014	-	ENSG00000167930	ENST00000450082	Transcript	frameshift_variant,feature_truncation	570-576	426-432	142-144	-	-	-	-	1	ITFG3	HGNC	-	protein_coding	-	-	Superfamily_domains:SSF50998	ENST00000450082.2:c.426_432delGGCCAAC	ENSP00000411394.2:p.Asn144AlafsTer65	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310014	-	ENSG00000167930	ENST00000301679	Transcript	frameshift_variant,feature_truncation	621-627	426-432	142-144	-	-	-	-	1	ITFG3	HGNC	-	protein_coding	-	-	Superfamily_domains:SSF50998	ENST00000301679.2:c.426_432delGGCCAAC	ENSP00000301679.2:p.Asn144AlafsTer65	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310014	-	ENSG00000167930	ENST00000421000	Transcript	frameshift_variant,feature_truncation	212-218	213-219	71-73	-	-	-	-	1	ITFG3	HGNC	-	protein_coding	-	-	-	ENST00000421000.1:c.212_218delGGCCAAC	ENSP00000412581.1:p.Asn73AlafsTer84	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310014	-	ENSG00000167930	ENST00000453430	Transcript	frameshift_variant,feature_truncation	702-708	426-432	142-144	-	-	-	-	1	ITFG3	HGNC	-	protein_coding	-	-	Superfamily_domains:SSF50998	ENST00000453430.1:c.426_432delGGCCAAC	ENSP00000399150.1:p.Asn144AlafsTer65	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310014	-	ENSG00000167930	ENST00000424016	Transcript	upstream_gene_variant	-	-	-	-	-	-	2493	1	ITFG3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310014	-	ENSG00000167930	ENST00000496874	Transcript	downstream_gene_variant	-	-	-	-	-	-	489	1	ITFG3	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310014	-	ENSG00000167930	ENST00000301678	Transcript	frameshift_variant,feature_truncation	570-576	426-432	142-144	-	-	-	-	1	ITFG3	HGNC	-	protein_coding	-	-	Superfamily_domains:SSF50998	ENST00000301678.3:c.426_432delGGCCAAC	ENSP00000301678.3:p.Asn144AlafsTer65	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310014	-	ENSG00000167930	ENST00000399932	Transcript	frameshift_variant,feature_truncation	877-883	426-432	142-144	-	-	-	-	1	ITFG3	HGNC	14163	protein_coding	-	-	Superfamily_domains:SSF50998	ENST00000399932.3:c.426_432delGGCCAAC	ENSP00000382814.3:p.Asn144AlafsTer65	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310014	-	ENSG00000269881	ENST00000600536	Transcript	frameshift_variant,feature_truncation	567-573	426-432	142-144	-	-	-	-	1	ITFG3	Uniprot_gn	-	protein_coding	-	-	Superfamily_domains:SSF50998	ENST00000600536.1:c.426_432delGGCCAAC	ENSP00000471331.1:p.Asn144AlafsTer65	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310014	-	ENSG00000167930	ENST00000438220	Transcript	downstream_gene_variant	-	-	-	-	-	-	6	1	ITFG3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310014	-	ENSG00000167930	ENST00000449945	Transcript	frameshift_variant,feature_truncation	558-564	399-405	133-135	-	-	-	-	1	ITFG3	HGNC	-	protein_coding	-	-	Superfamily_domains:SSF50998	ENST00000449945.1:c.399_405delGGCCAAC	ENSP00000407669.1:p.Asn135AlafsTer65	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310014	-	ENSG00000167930	ENST00000419173	Transcript	downstream_gene_variant	-	-	-	-	-	-	488	1	ITFG3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310014	-	ENSG00000167930	ENST00000468354	Transcript	upstream_gene_variant	-	-	-	-	-	-	1190	1	ITFG3	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310014	-	ENSG00000167930	ENST00000420500	Transcript	coding_sequence_variant,3_prime_UTR_variant,feature_truncation	459-?	309-?	103-?	-	-	-	-	1	ITFG3	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:310007-310014	-	-	ENSR00001502937	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:2203812-2203814	CTCAGGCAGCGTGGGA	ENSG00000131653	ENST00000326181	Transcript	upstream_gene_variant	-	-	-	-	-	-	1952	1	TRAF7	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:2203812-2203814	CTCAGGCAGCGTGGGA	ENSG00000206630	ENST00000383903	Transcript	downstream_gene_variant	-	-	-	-	-	-	1210	-1	SNORD60	HGNC	10217	snoRNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:2203812-2203814	CTCAGGCAGCGTGGGA	ENSG00000167964	ENST00000567145	Transcript	downstream_gene_variant	-	-	-	-	-	-	436	1	RAB26	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:2203812-2203814	CTCAGGCAGCGTGGGA	ENSG00000131653	ENST00000569686	Transcript	upstream_gene_variant	-	-	-	-	-	-	1965	1	TRAF7	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:2203812-2203814	CTCAGGCAGCGTGGGA	ENSG00000167964	ENST00000561600	Transcript	downstream_gene_variant	-	-	-	-	-	-	423	1	RAB26	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:2203812-2203814	CTCAGGCAGCGTGGGA	ENSG00000167964	ENST00000566724	Transcript	frameshift_variant,feature_elongation	316-317	318-319	106-107	-	-	-	-	1	RAB26	HGNC	-	protein_coding	-	-	-	ENST00000566724.1:c.316_317delACinsCTCAGGCAGCGTGGGA	ENSP00000455675.1:p.Arg107SerfsTer44	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:2203812-2203814	CTCAGGCAGCGTGGGA	ENSG00000131653	ENST00000564067	Transcript	upstream_gene_variant	-	-	-	-	-	-	2016	1	TRAF7	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:2203812-2203814	CTCAGGCAGCGTGGGA	ENSG00000167964	ENST00000541451	Transcript	downstream_gene_variant	-	-	-	-	-	-	391	1	RAB26	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:2203812-2203814	CTCAGGCAGCGTGGGA	ENSG00000131653	ENST00000567653	Transcript	upstream_gene_variant	-	-	-	-	-	-	1991	1	TRAF7	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:2203812-2203814	CTCAGGCAGCGTGGGA	ENSG00000167964	ENST00000564426	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	1595-1596	-	-	-	-	-	-	1	RAB26	HGNC	-	retained_intron	-	-	-	ENST00000564426.1:n.1595_1596delACinsCTCAGGCAGCGTGGGA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:2203812-2203814	CTCAGGCAGCGTGGGA	ENSG00000131653	ENST00000565383	Transcript	upstream_gene_variant	-	-	-	-	-	-	1885	1	TRAF7	HGNC	20456	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:2203812-2203814	CTCAGGCAGCGTGGGA	ENSG00000167964	ENST00000562735	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	1422-1423	-	-	-	-	-	-	1	RAB26	HGNC	-	retained_intron	-	-	-	ENST00000562735.1:n.1422_1423delACinsCTCAGGCAGCGTGGGA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:2203812-2203814	CTCAGGCAGCGTGGGA	ENSG00000260260	ENST00000563192	Transcript	downstream_gene_variant	-	-	-	-	-	-	984	-1	RP11-304L19.5	Clone_based_vega_gene	-	lincRNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:2203812-2203814	CTCAGGCAGCGTGGGA	ENSG00000167964	ENST00000565592	Transcript	downstream_gene_variant	-	-	-	-	-	-	742	1	RAB26	HGNC	14259	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:2203812-2203814	CTCAGGCAGCGTGGGA	ENSG00000167964	ENST00000210187	Transcript	3_prime_UTR_variant,feature_elongation	1322-1323	-	-	-	-	-	-	1	RAB26	HGNC	-	protein_coding	-	-	-	ENST00000210187.6:c.*391_*392delACinsCTCAGGCAGCGTGGGA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:2203812-2203814	CTCAGGCAGCGTGGGA	-	ENSR00001503039	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:57850708-57850716	TTCCAGGCAGGAGCTCATGGGAAAGCT	ENSG00000187185	ENST00000335616	Transcript	frameshift_variant,feature_elongation	910-917	628-635	210-212	-	-	-	-	1	CTD-2600O9.1	Clone_based_vega_gene	-	protein_coding	-	-	-	ENST00000335616.2:c.628_635delAGGGAACCinsTTCCAGGCAGGAGCTCATGGGAAAGCT	ENSP00000334077.2:p.Arg210PhefsTer17	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:57850708-57850716	TTCCAGGCAGGAGCTCATGGGAAAGCT	ENSG00000140859	ENST00000565684	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	KIFC3	HGNC	-	protein_coding	-	-	-	ENST00000565684.1:c.-39-18522_-39-18515delGGTTCCCTinsAGCTTTCCCATGAGCTCCTGCCTGGAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:57850708-57850716	TTCCAGGCAGGAGCTCATGGGAAAGCT	ENSG00000187185	ENST00000564282	Transcript	frameshift_variant,feature_elongation	1168-1175	628-635	210-212	-	-	-	-	1	CTD-2600O9.1	Clone_based_vega_gene	-	protein_coding	-	-	-	ENST00000564282.1:c.628_635delAGGGAACCinsTTCCAGGCAGGAGCTCATGGGAAAGCT	ENSP00000457453.1:p.Arg210PhefsTer17	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:57850708-57850716	TTCCAGGCAGGAGCTCATGGGAAAGCT	ENSG00000187185	ENST00000566652	Transcript	downstream_gene_variant	-	-	-	-	-	-	2994	1	CTD-2600O9.1	Clone_based_vega_gene	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:57850708-57850716	TTCCAGGCAGGAGCTCATGGGAAAGCT	ENSG00000140859	ENST00000563028	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	KIFC3	HGNC	-	protein_coding	-	-	-	ENST00000563028.1:c.109-18522_109-18515delGGTTCCCTinsAGCTTTCCCATGAGCTCCTGCCTGGAA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:57850708-57850716	TTCCAGGCAGGAGCTCATGGGAAAGCT	-	ENSR00001505540	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:70954703-70954719	A	ENSG00000157423	ENST00000309900	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2232-2247	-	-	-	-	-	-	-1	HYDIN	HGNC	-	retained_intron	-	-	-	ENST00000309900.7:n.2232_2247delCACGGAGAAGGAGCGCinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:70954703-70954719	A	ENSG00000157423	ENST00000393567	Transcript	feature_truncation	7711-7726	7560-7575	2520-2525	RTEKER/R	cgCACGGAGAAGGAGCGC/cgT	-	-	-1	HYDIN	HGNC	19368	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50313	ENST00000393567.2:c.7560_7575delCACGGAGAAGGAGCGCinsT	ENSP00000377197.2:p.Thr2521_Arg2525del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:70954703-70954718	-	ENSG00000157423	ENST00000309900	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	2233-2247	-	-	-	-	COSM1379438,COSM1379439,COSM1379440,rs67115747	-	-1	HYDIN	HGNC	-	retained_intron	-	-	-	ENST00000309900.7:n.2233_2247delACGGAGAAGGAGCGC	-	-	-	-	-	-	-	-	-	1,1,1,0	-	-	-	-
.	16:70954703-70954718	-	ENSG00000157423	ENST00000393567	Transcript	inframe_deletion	7712-7726	7561-7575	2521-2525	TEKER/-	ACGGAGAAGGAGCGC/-	COSM1379438,COSM1379439,COSM1379440,rs67115747	-	-1	HYDIN	HGNC	19368	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50313	ENST00000393567.2:c.7561_7575delACGGAGAAGGAGCGC	ENSP00000377197.2:p.Thr2521_Arg2525del	-	-	-	-	-	-	-	-	1,1,1,0	-	-	-	-
.	16:88599696-88599705	CCC	ENSG00000179588	ENST00000319555	Transcript	feature_truncation	1653-1661	1331-1339	444-447	EPLA/AP	gAGCCTCTGGcc/gCCCcc	-	-	1	ZFPM1	HGNC	19762	protein_coding	-	-	-	ENST00000319555.3:c.1331_1339delAGCCTCTGGinsCCC	ENSP00000326630.2:p.Glu444_Ala447delinsAlaPro	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:88599696-88599705	CCC	ENSG00000261744	ENST00000563243	Transcript	upstream_gene_variant	-	-	-	-	-	-	2236	-1	RP11-21B21.4	Clone_based_vega_gene	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:88599696-88599705	CCC	-	ENSR00000512067	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:90095595-90095620	G	ENSG00000141013	ENST00000565062	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	GAS8	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000565062.1:c.90+1466_90+1490delATGGGGCAGCCTACGGGGCAGGCTAinsG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:90095595-90095620	G	ENSG00000221819	ENST00000408886	Transcript	feature_truncation	690-714	131-155	44-52	VACPVGCPI/A	gTAGCCTGCCCCGTAGGCTGCCCCATa/gCa	-	-	-1	C16orf3	HGNC	1197	protein_coding	-	-	-	ENST00000408886.2:c.131_155delTAGCCTGCCCCGTAGGCTGCCCCATinsC	ENSP00000386218.2:p.Val44_Ile52delinsAla	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:90095595-90095620	G	ENSG00000141013	ENST00000566266	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	GAS8	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000566266.1:c.90+1466_90+1490delATGGGGCAGCCTACGGGGCAGGCTAinsG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:90095595-90095620	G	ENSG00000141013	ENST00000563980	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	GAS8	HGNC	4166	processed_transcript	-	-	-	ENST00000563980.1:n.469+1466_469+1490delATGGGGCAGCCTACGGGGCAGGCTAinsG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:90095595-90095620	G	ENSG00000141013	ENST00000563936	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	GAS8	HGNC	-	protein_coding	-	-	-	ENST00000563936.1:c.15+1466_15+1490delATGGGGCAGCCTACGGGGCAGGCTAinsG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:90095595-90095620	G	ENSG00000141013	ENST00000537797	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	GAS8	HGNC	-	retained_intron	-	-	-	ENST00000537797.1:n.129+1466_129+1490delATGGGGCAGCCTACGGGGCAGGCTAinsG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:90095595-90095620	G	ENSG00000141013	ENST00000564853	Transcript	downstream_gene_variant	-	-	-	-	-	-	1192	1	GAS8	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:90095595-90095620	G	ENSG00000141013	ENST00000268699	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	GAS8	HGNC	-	protein_coding	-	-	-	ENST00000268699.4:c.90+1466_90+1490delATGGGGCAGCCTACGGGGCAGGCTAinsG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:90095595-90095620	G	ENSG00000141013	ENST00000561675	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	GAS8	HGNC	-	protein_coding	-	-	-	ENST00000561675.1:c.-268-2002_-268-1978delATGGGGCAGCCTACGGGGCAGGCTAinsG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:90095595-90095620	G	ENSG00000141013	ENST00000569558	Transcript	upstream_gene_variant	-	-	-	-	-	-	329	1	GAS8	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:90095595-90095620	G	ENSG00000141013	ENST00000536122	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	GAS8	HGNC	-	protein_coding	-	-	-	ENST00000536122.1:c.15+1466_15+1490delATGGGGCAGCCTACGGGGCAGGCTAinsG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:90095595-90095620	G	ENSG00000141013	ENST00000565957	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	GAS8	HGNC	-	processed_transcript	-	-	-	ENST00000565957.1:n.332+1466_332+1490delATGGGGCAGCCTACGGGGCAGGCTAinsG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:90095595-90095620	G	ENSG00000141013	ENST00000568705	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	GAS8	HGNC	-	processed_transcript	-	-	-	ENST00000568705.1:n.163+1466_163+1490delATGGGGCAGCCTACGGGGCAGGCTAinsG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:90095595-90095620	G	ENSG00000141013	ENST00000564392	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	GAS8	HGNC	-	protein_coding	-	-	-	ENST00000564392.1:c.15+1466_15+1490delATGGGGCAGCCTACGGGGCAGGCTAinsG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:90095595-90095620	G	ENSG00000141013	ENST00000568664	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	GAS8	HGNC	-	processed_transcript	-	-	-	ENST00000568664.1:n.126+1466_126+1490delATGGGGCAGCCTACGGGGCAGGCTAinsG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:90095595-90095620	G	ENSG00000141013	ENST00000540721	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	GAS8	HGNC	-	processed_transcript	-	-	-	ENST00000540721.1:n.62-2111_62-2087delATGGGGCAGCCTACGGGGCAGGCTAinsG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:90095595-90095597	GCGGGGCAGCCTACGGGGCAGGCTGC	ENSG00000141013	ENST00000565062	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	GAS8	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000565062.1:c.90+1466_90+1467delATinsGCGGGGCAGCCTACGGGGCAGGCTGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:90095595-90095597	GCGGGGCAGCCTACGGGGCAGGCTGC	ENSG00000221819	ENST00000408886	Transcript	inframe_insertion	713-714	154-155	52	I/AACPVGCPA	ATa/GCAGCCTGCCCCGTAGGCTGCCCCGCa	-	-	-1	C16orf3	HGNC	1197	protein_coding	-	-	-	ENST00000408886.2:c.154_155delATinsGCAGCCTGCCCCGTAGGCTGCCCCGC	ENSP00000386218.2:p.Ile52delinsAlaAlaCysProValGlyCysProAla	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:90095595-90095597	GCGGGGCAGCCTACGGGGCAGGCTGC	ENSG00000141013	ENST00000566266	Transcript	intron_variant,NMD_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	GAS8	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000566266.1:c.90+1466_90+1467delATinsGCGGGGCAGCCTACGGGGCAGGCTGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:90095595-90095597	GCGGGGCAGCCTACGGGGCAGGCTGC	ENSG00000141013	ENST00000563980	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	GAS8	HGNC	4166	processed_transcript	-	-	-	ENST00000563980.1:n.469+1466_469+1467delATinsGCGGGGCAGCCTACGGGGCAGGCTGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:90095595-90095597	GCGGGGCAGCCTACGGGGCAGGCTGC	ENSG00000141013	ENST00000563936	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	GAS8	HGNC	-	protein_coding	-	-	-	ENST00000563936.1:c.15+1466_15+1467delATinsGCGGGGCAGCCTACGGGGCAGGCTGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:90095595-90095597	GCGGGGCAGCCTACGGGGCAGGCTGC	ENSG00000141013	ENST00000537797	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	GAS8	HGNC	-	retained_intron	-	-	-	ENST00000537797.1:n.129+1466_129+1467delATinsGCGGGGCAGCCTACGGGGCAGGCTGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:90095595-90095597	GCGGGGCAGCCTACGGGGCAGGCTGC	ENSG00000141013	ENST00000564853	Transcript	downstream_gene_variant	-	-	-	-	-	-	1192	1	GAS8	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:90095595-90095597	GCGGGGCAGCCTACGGGGCAGGCTGC	ENSG00000141013	ENST00000268699	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	GAS8	HGNC	-	protein_coding	-	-	-	ENST00000268699.4:c.90+1466_90+1467delATinsGCGGGGCAGCCTACGGGGCAGGCTGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:90095595-90095597	GCGGGGCAGCCTACGGGGCAGGCTGC	ENSG00000141013	ENST00000561675	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	GAS8	HGNC	-	protein_coding	-	-	-	ENST00000561675.1:c.-268-2002_-268-2001delATinsGCGGGGCAGCCTACGGGGCAGGCTGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:90095595-90095597	GCGGGGCAGCCTACGGGGCAGGCTGC	ENSG00000141013	ENST00000569558	Transcript	upstream_gene_variant	-	-	-	-	-	-	352	1	GAS8	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:90095595-90095597	GCGGGGCAGCCTACGGGGCAGGCTGC	ENSG00000141013	ENST00000536122	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	GAS8	HGNC	-	protein_coding	-	-	-	ENST00000536122.1:c.15+1466_15+1467delATinsGCGGGGCAGCCTACGGGGCAGGCTGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:90095595-90095597	GCGGGGCAGCCTACGGGGCAGGCTGC	ENSG00000141013	ENST00000565957	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	GAS8	HGNC	-	processed_transcript	-	-	-	ENST00000565957.1:n.332+1466_332+1467delATinsGCGGGGCAGCCTACGGGGCAGGCTGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:90095595-90095597	GCGGGGCAGCCTACGGGGCAGGCTGC	ENSG00000141013	ENST00000568705	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	GAS8	HGNC	-	processed_transcript	-	-	-	ENST00000568705.1:n.163+1466_163+1467delATinsGCGGGGCAGCCTACGGGGCAGGCTGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:90095595-90095597	GCGGGGCAGCCTACGGGGCAGGCTGC	ENSG00000141013	ENST00000564392	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	GAS8	HGNC	-	protein_coding	-	-	-	ENST00000564392.1:c.15+1466_15+1467delATinsGCGGGGCAGCCTACGGGGCAGGCTGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:90095595-90095597	GCGGGGCAGCCTACGGGGCAGGCTGC	ENSG00000141013	ENST00000568664	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	GAS8	HGNC	-	processed_transcript	-	-	-	ENST00000568664.1:n.126+1466_126+1467delATinsGCGGGGCAGCCTACGGGGCAGGCTGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	16:90095595-90095597	GCGGGGCAGCCTACGGGGCAGGCTGC	ENSG00000141013	ENST00000540721	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	1	GAS8	HGNC	-	processed_transcript	-	-	-	ENST00000540721.1:n.62-2111_62-2110delATinsGCGGGGCAGCCTACGGGGCAGGCTGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8701168-8701175	-	ENSG00000174083	ENST00000311434	Transcript	downstream_gene_variant	-	-	-	-	-	-	4880	-1	PIK3R6	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8701168-8701175	-	ENSG00000174083	ENST00000452122	Transcript	downstream_gene_variant	-	-	-	-	-	-	4866	-1	PIK3R6	HGNC	27101	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8701168-8701175	-	ENSG00000185156	ENST00000329805	Transcript	frameshift_variant,feature_truncation	1493-1499	1264-1270	422-424	-	-	-	-	-1	MFSD6L	HGNC	26656	protein_coding	-	-	Superfamily_domains:SSF103473	ENST00000329805.4:c.1264_1270delGCTACAT	ENSP00000330051.4:p.Ala422CysfsTer15	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8701168-8701175	-	ENSG00000174083	ENST00000583984	Transcript	downstream_gene_variant	-	-	-	-	-	-	4880	-1	PIK3R6	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8701168-8701179	TCCT	ENSG00000174083	ENST00000311434	Transcript	downstream_gene_variant	-	-	-	-	-	-	4876	-1	PIK3R6	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8701168-8701179	TCCT	ENSG00000174083	ENST00000452122	Transcript	downstream_gene_variant	-	-	-	-	-	-	4862	-1	PIK3R6	HGNC	27101	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8701168-8701179	TCCT	ENSG00000185156	ENST00000329805	Transcript	frameshift_variant,feature_truncation	1489-1499	1260-1270	420-424	-	-	-	-	-1	MFSD6L	HGNC	26656	protein_coding	-	-	Transmembrane_helices:Tmhmm,Superfamily_domains:SSF103473	ENST00000329805.4:c.1260_1270delCAAAGCTACATinsAGGA	ENSP00000330051.4:p.Phe420LeufsTer17	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8701168-8701179	TCCT	ENSG00000174083	ENST00000583984	Transcript	downstream_gene_variant	-	-	-	-	-	-	4876	-1	PIK3R6	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	-	ENSG00000108557	ENST00000583166	Transcript	upstream_gene_variant	-	-	-	-	-	-	4590	1	RAI1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	CAGCAGCAGCAGCAGCAG	ENSG00000108557	ENST00000583166	Transcript	upstream_gene_variant	-	-	-	-	-	-	4590	1	RAI1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	CAGCAGCAG	ENSG00000108557	ENST00000583166	Transcript	upstream_gene_variant	-	-	-	-	-	-	4590	1	RAI1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	CAG	ENSG00000108557	ENST00000583166	Transcript	upstream_gene_variant	-	-	-	-	-	-	4590	1	RAI1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	CAGCAGCAGCAG	ENSG00000108557	ENST00000583166	Transcript	upstream_gene_variant	-	-	-	-	-	-	4590	1	RAI1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	CAGCAG	ENSG00000108557	ENST00000583166	Transcript	upstream_gene_variant	-	-	-	-	-	-	4590	1	RAI1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	-	ENSG00000108557	ENST00000353383	Transcript	inframe_deletion	1301-1315	832-846	278-282	QQQQQ/-	CAGCAGCAGCAGCAG/-	-	-	1	RAI1	HGNC	9834	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000353383.1:c.832_846delCAGCAGCAGCAGCAG	ENSP00000323074.4:p.Gln278_Gln282del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	CAGCAGCAGCAGCAGCAG	ENSG00000108557	ENST00000353383	Transcript	inframe_insertion	1301-1315	832-846	278-282	QQQQQ/QQQQQQ	CAGCAGCAGCAGCAG/CAGCAGCAGCAGCAGCAG	-	-	1	RAI1	HGNC	9834	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000353383.1:c.832_846delCAGCAGCAGCAGCAGinsCAGCAGCAGCAGCAGCAG	ENSP00000323074.4:p.Gln282dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	CAGCAGCAG	ENSG00000108557	ENST00000353383	Transcript	inframe_deletion	1301-1315	832-846	278-282	QQQQQ/QQQ	CAGCAGCAGCAGCAG/CAGCAGCAG	-	-	1	RAI1	HGNC	9834	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000353383.1:c.832_846delCAGCAGCAGCAGCAGinsCAGCAGCAG	ENSP00000323074.4:p.Gln282_Gln283del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	CAG	ENSG00000108557	ENST00000353383	Transcript	inframe_deletion	1301-1315	832-846	278-282	QQQQQ/Q	CAGCAGCAGCAGCAG/CAG	-	-	1	RAI1	HGNC	9834	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000353383.1:c.832_846delCAGCAGCAGCAGCAGinsCAG	ENSP00000323074.4:p.Gln279_Gln282del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	CAGCAGCAGCAG	ENSG00000108557	ENST00000353383	Transcript	inframe_deletion	1301-1315	832-846	278-282	QQQQQ/QQQQ	CAGCAGCAGCAGCAG/CAGCAGCAGCAG	-	-	1	RAI1	HGNC	9834	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000353383.1:c.832_846delCAGCAGCAGCAGCAGinsCAGCAGCAGCAG	ENSP00000323074.4:p.Gln284del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	CAGCAG	ENSG00000108557	ENST00000353383	Transcript	inframe_deletion	1301-1315	832-846	278-282	QQQQQ/QQ	CAGCAGCAGCAGCAG/CAGCAG	-	-	1	RAI1	HGNC	9834	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000353383.1:c.832_846delCAGCAGCAGCAGCAGinsCAGCAG	ENSP00000323074.4:p.Gln280_Gln282del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	-	ENSG00000108557	ENST00000261641	Transcript	inframe_deletion	832-846	832-846	278-282	QQQQQ/-	CAGCAGCAGCAGCAG/-	-	-	1	RAI1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000261641.6:c.832_846delCAGCAGCAGCAGCAG	ENSP00000261641.6:p.Gln278_Gln282del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	CAGCAGCAGCAGCAGCAG	ENSG00000108557	ENST00000261641	Transcript	inframe_insertion	832-846	832-846	278-282	QQQQQ/QQQQQQ	CAGCAGCAGCAGCAG/CAGCAGCAGCAGCAGCAG	-	-	1	RAI1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000261641.6:c.832_846delCAGCAGCAGCAGCAGinsCAGCAGCAGCAGCAGCAG	ENSP00000261641.6:p.Gln282dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	CAGCAGCAG	ENSG00000108557	ENST00000261641	Transcript	inframe_deletion	832-846	832-846	278-282	QQQQQ/QQQ	CAGCAGCAGCAGCAG/CAGCAGCAG	-	-	1	RAI1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000261641.6:c.832_846delCAGCAGCAGCAGCAGinsCAGCAGCAG	ENSP00000261641.6:p.Gln282_Gln283del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	CAG	ENSG00000108557	ENST00000261641	Transcript	inframe_deletion	832-846	832-846	278-282	QQQQQ/Q	CAGCAGCAGCAGCAG/CAG	-	-	1	RAI1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000261641.6:c.832_846delCAGCAGCAGCAGCAGinsCAG	ENSP00000261641.6:p.Gln279_Gln282del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	CAGCAGCAGCAG	ENSG00000108557	ENST00000261641	Transcript	inframe_deletion	832-846	832-846	278-282	QQQQQ/QQQQ	CAGCAGCAGCAGCAG/CAGCAGCAGCAG	-	-	1	RAI1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000261641.6:c.832_846delCAGCAGCAGCAGCAGinsCAGCAGCAGCAG	ENSP00000261641.6:p.Gln284del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	CAGCAG	ENSG00000108557	ENST00000261641	Transcript	inframe_deletion	832-846	832-846	278-282	QQQQQ/QQ	CAGCAGCAGCAGCAG/CAGCAG	-	-	1	RAI1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000261641.6:c.832_846delCAGCAGCAGCAGCAGinsCAGCAG	ENSP00000261641.6:p.Gln280_Gln282del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	-	ENSG00000108557	ENST00000471135	Transcript	downstream_gene_variant	-	-	-	-	-	-	637	1	RAI1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	CAGCAGCAGCAGCAGCAG	ENSG00000108557	ENST00000471135	Transcript	downstream_gene_variant	-	-	-	-	-	-	637	1	RAI1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	CAGCAGCAG	ENSG00000108557	ENST00000471135	Transcript	downstream_gene_variant	-	-	-	-	-	-	637	1	RAI1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	CAG	ENSG00000108557	ENST00000471135	Transcript	downstream_gene_variant	-	-	-	-	-	-	637	1	RAI1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	CAGCAGCAGCAG	ENSG00000108557	ENST00000471135	Transcript	downstream_gene_variant	-	-	-	-	-	-	637	1	RAI1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	CAGCAG	ENSG00000108557	ENST00000471135	Transcript	downstream_gene_variant	-	-	-	-	-	-	637	1	RAI1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	-	ENSG00000108557	ENST00000395774	Transcript	inframe_deletion	932-946	832-846	278-282	QQQQQ/-	CAGCAGCAGCAGCAG/-	-	-	1	RAI1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000395774.1:c.832_846delCAGCAGCAGCAGCAG	ENSP00000379120.1:p.Gln278_Gln282del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	CAGCAGCAGCAGCAGCAG	ENSG00000108557	ENST00000395774	Transcript	inframe_insertion	932-946	832-846	278-282	QQQQQ/QQQQQQ	CAGCAGCAGCAGCAG/CAGCAGCAGCAGCAGCAG	-	-	1	RAI1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000395774.1:c.832_846delCAGCAGCAGCAGCAGinsCAGCAGCAGCAGCAGCAG	ENSP00000379120.1:p.Gln282dup	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	CAGCAGCAG	ENSG00000108557	ENST00000395774	Transcript	inframe_deletion	932-946	832-846	278-282	QQQQQ/QQQ	CAGCAGCAGCAGCAG/CAGCAGCAG	-	-	1	RAI1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000395774.1:c.832_846delCAGCAGCAGCAGCAGinsCAGCAGCAG	ENSP00000379120.1:p.Gln282_Gln283del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	CAG	ENSG00000108557	ENST00000395774	Transcript	inframe_deletion	932-946	832-846	278-282	QQQQQ/Q	CAGCAGCAGCAGCAG/CAG	-	-	1	RAI1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000395774.1:c.832_846delCAGCAGCAGCAGCAGinsCAG	ENSP00000379120.1:p.Gln279_Gln282del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	CAGCAGCAGCAG	ENSG00000108557	ENST00000395774	Transcript	inframe_deletion	932-946	832-846	278-282	QQQQQ/QQQQ	CAGCAGCAGCAGCAG/CAGCAGCAGCAG	-	-	1	RAI1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000395774.1:c.832_846delCAGCAGCAGCAGCAGinsCAGCAGCAGCAG	ENSP00000379120.1:p.Gln284del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	CAGCAG	ENSG00000108557	ENST00000395774	Transcript	inframe_deletion	932-946	832-846	278-282	QQQQQ/QQ	CAGCAGCAGCAGCAG/CAGCAG	-	-	1	RAI1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000395774.1:c.832_846delCAGCAGCAGCAGCAGinsCAGCAG	ENSP00000379120.1:p.Gln280_Gln282del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	-	ENSG00000108557	ENST00000583166	Transcript	upstream_gene_variant	-	-	-	-	-	-	4590	1	RAI1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	-	ENSG00000108557	ENST00000353383	Transcript	inframe_deletion	1301-1315	832-846	278-282	QQQQQ/-	CAGCAGCAGCAGCAG/-	-	-	1	RAI1	HGNC	9834	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000353383.1:c.832_846delCAGCAGCAGCAGCAG	ENSP00000323074.4:p.Gln278_Gln282del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	-	ENSG00000108557	ENST00000261641	Transcript	inframe_deletion	832-846	832-846	278-282	QQQQQ/-	CAGCAGCAGCAGCAG/-	-	-	1	RAI1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000261641.6:c.832_846delCAGCAGCAGCAGCAG	ENSP00000261641.6:p.Gln278_Gln282del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	-	ENSG00000108557	ENST00000471135	Transcript	downstream_gene_variant	-	-	-	-	-	-	637	1	RAI1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697108	-	ENSG00000108557	ENST00000395774	Transcript	inframe_deletion	932-946	832-846	278-282	QQQQQ/-	CAGCAGCAGCAGCAG/-	-	-	1	RAI1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000395774.1:c.832_846delCAGCAGCAGCAGCAG	ENSP00000379120.1:p.Gln278_Gln282del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697105	-	ENSG00000108557	ENST00000583166	Transcript	upstream_gene_variant	-	-	-	-	-	COSM436135	4593	1	RAI1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	17:17697093-17697105	-	ENSG00000108557	ENST00000353383	Transcript	inframe_deletion	1301-1312	832-843	278-281	QQQQ/-	CAGCAGCAGCAG/-	COSM436135	-	1	RAI1	HGNC	9834	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000353383.1:c.832_843delCAGCAGCAGCAG	ENSP00000323074.4:p.Gln278_Gln281del	-	-	-	-	-	-	-	-	1	-	-	-	-
.	17:17697093-17697105	-	ENSG00000108557	ENST00000261641	Transcript	inframe_deletion	832-843	832-843	278-281	QQQQ/-	CAGCAGCAGCAG/-	COSM436135	-	1	RAI1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000261641.6:c.832_843delCAGCAGCAGCAG	ENSP00000261641.6:p.Gln278_Gln281del	-	-	-	-	-	-	-	-	1	-	-	-	-
.	17:17697093-17697105	-	ENSG00000108557	ENST00000471135	Transcript	downstream_gene_variant	-	-	-	-	-	COSM436135	637	1	RAI1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	1	-	-	-	-
.	17:17697093-17697105	-	ENSG00000108557	ENST00000395774	Transcript	inframe_deletion	932-943	832-843	278-281	QQQQ/-	CAGCAGCAGCAG/-	COSM436135	-	1	RAI1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000395774.1:c.832_843delCAGCAGCAGCAG	ENSP00000379120.1:p.Gln278_Gln281del	-	-	-	-	-	-	-	-	1	-	-	-	-
.	17:17697093-17697102	-	ENSG00000108557	ENST00000583166	Transcript	upstream_gene_variant	-	-	-	-	-	-	4596	1	RAI1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697102	-	ENSG00000108557	ENST00000353383	Transcript	inframe_deletion	1301-1309	832-840	278-280	QQQ/-	CAGCAGCAG/-	-	-	1	RAI1	HGNC	9834	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000353383.1:c.832_840delCAGCAGCAG	ENSP00000323074.4:p.Gln278_Gln280del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697102	-	ENSG00000108557	ENST00000261641	Transcript	inframe_deletion	832-840	832-840	278-280	QQQ/-	CAGCAGCAG/-	-	-	1	RAI1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000261641.6:c.832_840delCAGCAGCAG	ENSP00000261641.6:p.Gln278_Gln280del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697102	-	ENSG00000108557	ENST00000471135	Transcript	downstream_gene_variant	-	-	-	-	-	-	637	1	RAI1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697093-17697102	-	ENSG00000108557	ENST00000395774	Transcript	inframe_deletion	932-940	832-840	278-280	QQQ/-	CAGCAGCAG/-	-	-	1	RAI1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000395774.1:c.832_840delCAGCAGCAG	ENSP00000379120.1:p.Gln278_Gln280del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697098-17697111	A	ENSG00000108557	ENST00000583166	Transcript	upstream_gene_variant	-	-	-	-	-	-	4587	1	RAI1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697098-17697111	A	ENSG00000108557	ENST00000353383	Transcript	feature_truncation	1306-1318	837-849	279-283	QQQQQ/Q	caGCAGCAGCAGCAG/caA	-	-	1	RAI1	HGNC	9834	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000353383.1:c.837_849delGCAGCAGCAGCAGinsA	ENSP00000323074.4:p.Gln280_Gln283del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697098-17697111	A	ENSG00000108557	ENST00000261641	Transcript	feature_truncation	837-849	837-849	279-283	QQQQQ/Q	caGCAGCAGCAGCAG/caA	-	-	1	RAI1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000261641.6:c.837_849delGCAGCAGCAGCAGinsA	ENSP00000261641.6:p.Gln280_Gln283del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697098-17697111	A	ENSG00000108557	ENST00000471135	Transcript	downstream_gene_variant	-	-	-	-	-	-	642	1	RAI1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17697098-17697111	A	ENSG00000108557	ENST00000395774	Transcript	feature_truncation	937-949	837-849	279-283	QQQQQ/Q	caGCAGCAGCAGCAG/caA	-	-	1	RAI1	HGNC	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50322	ENST00000395774.1:c.837_849delGCAGCAGCAGCAGinsA	ENSP00000379120.1:p.Gln280_Gln283del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:38975314-38975327	C	ENSG00000167920	ENST00000436612	Transcript	upstream_gene_variant	-	-	-	-	-	-	31	1	TMEM99	HGNC	28305	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:38975314-38975327	C	ENSG00000186395	ENST00000269576	Transcript	feature_truncation	1470-1482	1460-1472	487-491	HGGGH/R	cACGGCGGCGGCCAc/cGc	-	-	-1	KRT10	HGNC	6413	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50324	ENST00000269576.5:c.1460_1472delACGGCGGCGGCCAinsG	ENSP00000269576.5:p.His487_His491delinsArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:38975314-38975327	C	ENSG00000167920	ENST00000496847	Transcript	upstream_gene_variant	-	-	-	-	-	-	85	1	TMEM99	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:38975314-38975327	C	ENSG00000167920	ENST00000301665	Transcript	upstream_gene_variant	-	-	-	-	-	-	50	1	TMEM99	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:38975314-38975327	C	-	ENSR00001346108	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:38975327	C	ENSG00000167920	ENST00000436612	Transcript	upstream_gene_variant	-	-	-	-	-	-	31	1	TMEM99	HGNC	28305	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:38975327	C	ENSG00000186395	ENST00000269576	Transcript	missense_variant	1470	1460	487	H/R	cAc/cGc	-	-	-1	KRT10	HGNC	6413	protein_coding	deleterious(0)	unknown(0)	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50324	ENST00000269576.5:c.1460A>G	ENSP00000269576.5:p.His487Arg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:38975327	C	ENSG00000167920	ENST00000496847	Transcript	upstream_gene_variant	-	-	-	-	-	-	85	1	TMEM99	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:38975327	C	ENSG00000167920	ENST00000301665	Transcript	upstream_gene_variant	-	-	-	-	-	-	50	1	TMEM99	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:38975327	C	-	ENSR00001346108	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:38975327-38975329	AGCCGCCGCCGGAGCTT	ENSG00000167920	ENST00000436612	Transcript	upstream_gene_variant	-	-	-	-	-	-	29	1	TMEM99	HGNC	28305	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:38975327-38975329	AGCCGCCGCCGGAGCTT	ENSG00000186395	ENST00000269576	Transcript	inframe_insertion	1468-1469	1458-1459	486-487	GH/GSSGGGY	ggCCac/ggAAGCTCCGGCGGCGGCTac	-	-	-1	KRT10	HGNC	6413	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50324	ENST00000269576.5:c.1458_1459delCCinsAAGCTCCGGCGGCGGCT	ENSP00000269576.5:p.His487delinsSerSerGlyGlyGlyTyr	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:38975327-38975329	AGCCGCCGCCGGAGCTT	ENSG00000167920	ENST00000496847	Transcript	upstream_gene_variant	-	-	-	-	-	-	83	1	TMEM99	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:38975327-38975329	AGCCGCCGCCGGAGCTT	ENSG00000167920	ENST00000301665	Transcript	upstream_gene_variant	-	-	-	-	-	-	48	1	TMEM99	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:38975327-38975329	AGCCGCCGCCGGAGCTT	-	ENSR00001346108	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39240640-39240674	GCCA	ENSG00000240871	ENST00000391417	Transcript	feature_truncation	183-216	183-216	61-72	QPTCCRPTCCET/QP	caACCCACCTGCTGTCGCCCCACCTGCTGTGAGACG/caGCCA	-	-	1	KRTAP4-7	HGNC	18898	protein_coding	-	-	Pfam_domain:PF01500,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50311	ENST00000391417.4:c.183_216delACCCACCTGCTGTCGCCCCACCTGCTGTGAGACGinsGCCA	ENSP00000375236.4:p.Thr63_Thr72del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39240640-39240674	GCCA	-	ENSR00001535844	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39240660-39240692	GC	ENSG00000240871	ENST00000391417	Transcript	feature_truncation	203-234	203-234	68-78	TCCETTCCHPR/S	aCCTGCTGTGAGACGACCTGCTGCCACCCTAGG/aGC	-	-	1	KRTAP4-7	HGNC	18898	protein_coding	-	-	Pfam_domain:PF01500,Low_complexity_(Seg):Seg,PROSITE_profiles:PS50311	ENST00000391417.4:c.203_234delCCTGCTGTGAGACGACCTGCTGCCACCCTAGGinsGC	ENSP00000375236.4:p.Thr68_Arg78delinsSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39240660-39240692	GC	-	ENSR00001535844	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39471752-39471767	-	ENSG00000186860	ENST00000334202	Transcript	inframe_deletion	181-195	136-150	46-50	SGCGG/-	TCTGGCTGCGGGGGC/-	COSM1479556,rs72106118	-	-1	KRTAP17-1	HGNC	18917	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50311,PROSITE_profiles:PS50315	ENST00000334202.3:c.136_150delTCTGGCTGCGGGGGC	ENSP00000333993.3:p.Ser46_Gly50del	-:0.2250	-:0.30	-:0.15	-:0.30	-:0.15	-:0.262897	-:0.183176	-	1,0	-	-	-	-
.	17:39471762-39471778	T	ENSG00000186860	ENST00000334202	Transcript	feature_truncation	170-185	125-140	42-47	GCGGSG/D	gGCTGCGGGGGCTCTGGc/gAc	-	-	-1	KRTAP17-1	HGNC	18917	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50311,PROSITE_profiles:PS50315	ENST00000334202.3:c.125_140delGCTGCGGGGGCTCTGGinsA	ENSP00000333993.3:p.Gly42_Gly47delinsAsp	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40654829-40654839	-	ENSG00000033627	ENST00000588138	Transcript	frameshift_variant,feature_truncation	82-91	82-91	28-31	-	-	-	-	1	ATP6V0A1	HGNC	-	protein_coding	-	-	Pfam_domain:PF01496	ENST00000588138.1:c.82_91delGCCCCAGTCA	ENSP00000466852.1:p.Pro29GlnfsTer8	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40654829-40654839	-	ENSG00000033627	ENST00000585525	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	ATP6V0A1	HGNC	-	protein_coding	-	-	-	ENST00000585525.1:c.1875+1508_1875+1517delGCCCCAGTCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40654829-40654839	-	ENSG00000033627	ENST00000585828	Transcript	upstream_gene_variant	-	-	-	-	-	-	4514	1	ATP6V0A1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40654829-40654839	-	ENSG00000033627	ENST00000393829	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	ATP6V0A1	HGNC	865	protein_coding	-	-	-	ENST00000393829.2:c.2004+1508_2004+1517delGCCCCAGTCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40654829-40654839	-	ENSG00000033627	ENST00000343619	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	ATP6V0A1	HGNC	-	protein_coding	-	-	-	ENST00000343619.4:c.2004+1508_2004+1517delGCCCCAGTCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40654829-40654839	-	ENSG00000033627	ENST00000546249	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	ATP6V0A1	HGNC	-	protein_coding	-	-	-	ENST00000546249.1:c.2004+1508_2004+1517delGCCCCAGTCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40654829-40654839	-	ENSG00000033627	ENST00000537728	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	ATP6V0A1	HGNC	-	protein_coding	-	-	-	ENST00000537728.1:c.1875+1508_1875+1517delGCCCCAGTCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40654829-40654839	-	ENSG00000033627	ENST00000586201	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	ATP6V0A1	HGNC	-	protein_coding	-	-	-	ENST00000586201.1:c.219+1508_219+1517delGCCCCAGTCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40654829-40654839	-	ENSG00000033627	ENST00000587510	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	ATP6V0A1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000587510.1:c.250+1508_250+1517delGCCCCAGTCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40654829-40654839	-	ENSG00000033627	ENST00000264649	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	ATP6V0A1	HGNC	-	protein_coding	-	-	-	ENST00000264649.6:c.2025+1508_2025+1517delGCCCCAGTCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40654829-40654839	-	ENSG00000033627	ENST00000544137	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	ATP6V0A1	HGNC	-	protein_coding	-	-	-	ENST00000544137.1:c.942+1508_942+1517delGCCCCAGTCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40654833-40654846	AAC	ENSG00000033627	ENST00000588138	Transcript	frameshift_variant,feature_truncation	86-98	86-98	29-33	-	-	-	-	1	ATP6V0A1	HGNC	-	protein_coding	-	-	Pfam_domain:PF01496	ENST00000588138.1:c.86_98delCAGTCAGCCCAAAinsAAC	ENSP00000466852.1:p.Pro29GlnfsTer8	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40654833-40654846	AAC	ENSG00000033627	ENST00000585525	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	ATP6V0A1	HGNC	-	protein_coding	-	-	-	ENST00000585525.1:c.1875+1512_1875+1524delCAGTCAGCCCAAAinsAAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40654833-40654846	AAC	ENSG00000033627	ENST00000585828	Transcript	upstream_gene_variant	-	-	-	-	-	-	4507	1	ATP6V0A1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40654833-40654846	AAC	ENSG00000033627	ENST00000393829	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	ATP6V0A1	HGNC	865	protein_coding	-	-	-	ENST00000393829.2:c.2004+1512_2004+1524delCAGTCAGCCCAAAinsAAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40654833-40654846	AAC	ENSG00000033627	ENST00000343619	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	ATP6V0A1	HGNC	-	protein_coding	-	-	-	ENST00000343619.4:c.2004+1512_2004+1524delCAGTCAGCCCAAAinsAAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40654833-40654846	AAC	ENSG00000033627	ENST00000546249	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	ATP6V0A1	HGNC	-	protein_coding	-	-	-	ENST00000546249.1:c.2004+1512_2004+1524delCAGTCAGCCCAAAinsAAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40654833-40654846	AAC	ENSG00000033627	ENST00000537728	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	ATP6V0A1	HGNC	-	protein_coding	-	-	-	ENST00000537728.1:c.1875+1512_1875+1524delCAGTCAGCCCAAAinsAAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40654833-40654846	AAC	ENSG00000033627	ENST00000586201	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	ATP6V0A1	HGNC	-	protein_coding	-	-	-	ENST00000586201.1:c.219+1512_219+1524delCAGTCAGCCCAAAinsAAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40654833-40654846	AAC	ENSG00000033627	ENST00000587510	Transcript	intron_variant,NMD_transcript_variant,feature_truncation	-	-	-	-	-	-	-	1	ATP6V0A1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000587510.1:c.250+1512_250+1524delCAGTCAGCCCAAAinsAAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40654833-40654846	AAC	ENSG00000033627	ENST00000264649	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	ATP6V0A1	HGNC	-	protein_coding	-	-	-	ENST00000264649.6:c.2025+1512_2025+1524delCAGTCAGCCCAAAinsAAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40654833-40654846	AAC	ENSG00000033627	ENST00000544137	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	ATP6V0A1	HGNC	-	protein_coding	-	-	-	ENST00000544137.1:c.942+1512_942+1524delCAGTCAGCCCAAAinsAAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46115074-46115084	CCCCCGGCCTGG	ENSG00000005243	ENST00000581637	Transcript	upstream_gene_variant	-	-	-	-	-	-	807	-1	COPZ2	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46115074-46115084	GCCCCTGGCCTGG	ENSG00000005243	ENST00000581637	Transcript	upstream_gene_variant	-	-	-	-	-	-	807	-1	COPZ2	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46115074-46115084	CCCCCGGCCTGG	ENSG00000005243	ENST00000584955	Transcript	upstream_gene_variant	-	-	-	-	-	-	4427	-1	COPZ2	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46115074-46115084	GCCCCTGGCCTGG	ENSG00000005243	ENST00000584955	Transcript	upstream_gene_variant	-	-	-	-	-	-	4427	-1	COPZ2	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46115074-46115084	CCCCCGGCCTGG	ENSG00000005243	ENST00000006101	Transcript	frameshift_variant,feature_elongation	54-63	54-63	18-21	-	-	-	-	-1	COPZ2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000006101.4:c.54_63delAGGCCGGGGGinsCCAGGCCGGGGG	ENSP00000006101.4:p.Gly19GlnfsTer33	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46115074-46115084	GCCCCTGGCCTGG	ENSG00000005243	ENST00000006101	Transcript	inframe_insertion	54-63	54-63	18-21	AGRG/AQARG	gcAGGCCGGGGG/gcCCAGGCCAGGGGC	-	-	-1	COPZ2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000006101.4:c.54_63delAGGCCGGGGGinsCCAGGCCAGGGGC	ENSP00000006101.4:p.Gly19delinsGlnAla	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46115074-46115084	CCCCCGGCCTGG	ENSG00000005243	ENST00000584666	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	61-70	-	-	-	-	-	-	-1	COPZ2	HGNC	-	processed_transcript	-	-	-	ENST00000584666.1:n.61_70delAGGCCGGGGGinsCCAGGCCGGGGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46115074-46115084	GCCCCTGGCCTGG	ENSG00000005243	ENST00000584666	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	61-70	-	-	-	-	-	-	-1	COPZ2	HGNC	-	processed_transcript	-	-	-	ENST00000584666.1:n.61_70delAGGCCGGGGGinsCCAGGCCAGGGGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46115074-46115084	CCCCCGGCCTGG	ENSG00000005243	ENST00000583414	Transcript	upstream_gene_variant	-	-	-	-	-	-	4457	-1	COPZ2	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46115074-46115084	GCCCCTGGCCTGG	ENSG00000005243	ENST00000583414	Transcript	upstream_gene_variant	-	-	-	-	-	-	4457	-1	COPZ2	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46115074-46115084	CCCCCGGCCTGG	ENSG00000005243	ENST00000580174	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	COPZ2	HGNC	-	protein_coding	-	-	-	ENST00000580174.1:c.-100+280_-100+289delAGGCCGGGGGinsCCAGGCCGGGGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46115074-46115084	GCCCCTGGCCTGG	ENSG00000005243	ENST00000580174	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	COPZ2	HGNC	-	protein_coding	-	-	-	ENST00000580174.1:c.-100+280_-100+289delAGGCCGGGGGinsCCAGGCCAGGGGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46115074-46115084	CCCCCGGCCTGG	ENSG00000005243	ENST00000579263	Transcript	upstream_gene_variant	-	-	-	-	-	-	3837	-1	COPZ2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46115074-46115084	GCCCCTGGCCTGG	ENSG00000005243	ENST00000579263	Transcript	upstream_gene_variant	-	-	-	-	-	-	3837	-1	COPZ2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46115074-46115084	CCCCCGGCCTGG	ENSG00000207947	ENST00000385212	Transcript	upstream_gene_variant	-	-	-	-	-	-	462	-1	MIR152	HGNC	31538	miRNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46115074-46115084	GCCCCTGGCCTGG	ENSG00000207947	ENST00000385212	Transcript	upstream_gene_variant	-	-	-	-	-	-	462	-1	MIR152	HGNC	31538	miRNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46115074-46115084	CCCCCGGCCTGG	ENSG00000005243	ENST00000582553	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	52-61	-	-	-	-	-	-	-1	COPZ2	HGNC	-	processed_transcript	-	-	-	ENST00000582553.1:n.52_61delAGGCCGGGGGinsCCAGGCCGGGGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46115074-46115084	GCCCCTGGCCTGG	ENSG00000005243	ENST00000582553	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	52-61	-	-	-	-	-	-	-1	COPZ2	HGNC	-	processed_transcript	-	-	-	ENST00000582553.1:n.52_61delAGGCCGGGGGinsCCAGGCCAGGGGC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46115074-46115084	CCCCCGGCCTGG	ENSG00000005243	ENST00000581756	Transcript	upstream_gene_variant	-	-	-	-	-	-	803	-1	COPZ2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46115074-46115084	GCCCCTGGCCTGG	ENSG00000005243	ENST00000581756	Transcript	upstream_gene_variant	-	-	-	-	-	-	803	-1	COPZ2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46115074-46115084	CCCCCGGCCTGG	-	ENSR00001348054	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46115074-46115084	GCCCCTGGCCTGG	-	ENSR00001348054	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46607020-46607021	CCCTACCTC	ENSG00000120094	ENST00000239174	Transcript	frameshift_variant,feature_elongation	887	794	265	-	-	rs7226137	-	-1	HOXB1	HGNC	5111	protein_coding	-	-	Low_complexity_(Seg):Seg,SMART_domains:SM00389,Superfamily_domains:SSF46689	ENST00000239174.6:c.794delAinsGAGGTAGGG	ENSP00000355140.5:p.Glu265GlyfsTer85	T:0.0129	C:0.95	C:0.99	C:1.00	C:1.00	C:0.952792	C:1.000000	-	-	-	-	-	-
.	17:46607020-46607021	CCCTACCTC	ENSG00000120094	ENST00000577092	Transcript	3_prime_UTR_variant,feature_elongation	1252	-	-	-	-	rs7226137	-	-1	HOXB1	HGNC	-	protein_coding	-	-	-	ENST00000577092.1:c.*547delAinsGAGGTAGGG	-	T:0.0129	C:0.95	C:0.99	C:1.00	C:1.00	C:0.952792	C:1.000000	-	-	-	-	-	-
.	17:46607020-46607021	CCCTACCTC	-	ENSR00001348187	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs7226137	-	-	-	-	-	-	-	-	-	-	-	T:0.0129	C:0.95	C:0.99	C:1.00	C:1.00	C:0.952792	C:1.000000	-	-	-	-	-	-
.	17:55943856-55943864	A	ENSG00000180891	ENST00000407144	Transcript	frameshift_variant,feature_truncation	1571-1578	1135-1142	379-381	-	-	-	-	-1	CUEDC1	HGNC	-	protein_coding	-	-	-	ENST00000407144.2:c.1135_1142delGAGGAAGGinsT	ENSP00000384712.2:p.Glu379SerfsTer67	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:55943856-55943864	A	ENSG00000180891	ENST00000584746	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	1159-1166	-	-	-	-	-	-	-1	CUEDC1	HGNC	-	retained_intron	-	-	-	ENST00000584746.1:n.1159_1166delGAGGAAGGinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:55943856-55943864	A	ENSG00000180891	ENST00000577840	Transcript	frameshift_variant,feature_truncation	832-839	724-731	242-244	-	-	-	-	-1	CUEDC1	HGNC	-	protein_coding	-	-	-	ENST00000577840.1:c.724_731delGAGGAAGGinsT	ENSP00000463666.1:p.Glu242SerfsTer?	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:55943856-55943864	A	ENSG00000180891	ENST00000582951	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	316-323	-	-	-	-	-	-	-1	CUEDC1	HGNC	-	retained_intron	-	-	-	ENST00000582951.1:n.316_323delGAGGAAGGinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:55943856-55943864	A	ENSG00000180891	ENST00000577830	Transcript	frameshift_variant,feature_truncation	1549-1556	1135-1142	379-381	-	-	-	-	-1	CUEDC1	HGNC	31350	protein_coding	-	-	-	ENST00000577830.1:c.1135_1142delGAGGAAGGinsT	ENSP00000462717.1:p.Glu379SerfsTer67	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:55943856-55943864	A	ENSG00000180891	ENST00000581391	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	417-424	-	-	-	-	-	-	-1	CUEDC1	HGNC	-	retained_intron	-	-	-	ENST00000581391.1:n.417_424delGAGGAAGGinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:55943856-55943864	A	ENSG00000180891	ENST00000585294	Transcript	frameshift_variant,feature_truncation	101-108	103-110	35-37	-	-	-	-	-1	CUEDC1	HGNC	-	protein_coding	-	-	-	ENST00000585294.1:c.101_108delGAGGAAGGinsT	ENSP00000462177.1:p.Glu35SerfsTer11	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:55943856-55943864	A	ENSG00000180891	ENST00000577497	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	355-362	-	-	-	-	-	-	-1	CUEDC1	HGNC	-	retained_intron	-	-	-	ENST00000577497.1:n.355_362delGAGGAAGGinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:55943856-55943864	A	ENSG00000180891	ENST00000360238	Transcript	frameshift_variant,feature_truncation	1854-1861	1135-1142	379-381	-	-	-	-	-1	CUEDC1	HGNC	-	protein_coding	-	-	-	ENST00000360238.2:c.1135_1142delGAGGAAGGinsT	ENSP00000353373.2:p.Glu379SerfsTer67	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:55943856-55943864	A	ENSG00000180891	ENST00000581898	Transcript	frameshift_variant,feature_truncation	134-141	136-143	46-48	-	-	-	-	-1	CUEDC1	HGNC	-	protein_coding	-	-	-	ENST00000581898.1:c.134_141delGAGGAAGGinsT	ENSP00000462045.1:p.Glu46SerfsTer67	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:55943856-55943864	A	ENSG00000180891	ENST00000577422	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	107-114	-	-	-	-	-	-	-1	CUEDC1	HGNC	-	processed_transcript	-	-	-	ENST00000577422.1:n.107_114delGAGGAAGGinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:55943856-55943864	A	ENSG00000180891	ENST00000578357	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	309-316	-	-	-	-	-	-	-1	CUEDC1	HGNC	-	processed_transcript	-	-	-	ENST00000578357.1:n.309_316delGAGGAAGGinsT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73596688	TTTTT	ENSG00000266714	ENST00000578382	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	rs111855679	-	1	MYO15B	HGNC	-	processed_transcript	-	-	-	ENST00000578382.2:n.3292-831_3292-830insTTTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73596688	TTTTT	ENSG00000266714	ENST00000583560	Transcript	upstream_gene_variant	-	-	-	-	-	rs111855679	1909	1	MYO15B	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73596688	TTTTT	ENSG00000266714	ENST00000584323	Transcript	upstream_gene_variant	-	-	-	-	-	rs111855679	1693	1	MYO15B	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73596688	TTTTT	ENSG00000266714	ENST00000584762	Transcript	frameshift_variant,splice_region_variant,feature_elongation	200-201	200-201	67	-	-	rs111855679	-	1	MYO15B	HGNC	-	protein_coding	-	-	Pfam_domain:PF00063,Superfamily_domains:SSF52540	ENST00000584762.1:c.200_201insTTTTT	ENSP00000464561.1:p.Glu68PhefsTer?	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73596688	TTTTT	ENSG00000266714	ENST00000584516	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	rs111855679	-	1	MYO15B	HGNC	14083	processed_transcript	-	-	-	ENST00000584516.1:n.3395-831_3395-830insTTTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73596688-73596692	TTTTTTTTT	ENSG00000266714	ENST00000578382	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	rs371353924	-	1	MYO15B	HGNC	-	processed_transcript	-	-	-	ENST00000578382.2:n.3292-830_3292-827delGGAGinsTTTTTTTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73596688-73596692	TTTTTTTTT	ENSG00000266714	ENST00000583560	Transcript	upstream_gene_variant	-	-	-	-	-	rs371353924	1906	1	MYO15B	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73596688-73596692	TTTTTTTTT	ENSG00000266714	ENST00000584323	Transcript	upstream_gene_variant	-	-	-	-	-	rs371353924	1690	1	MYO15B	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73596688-73596692	TTTTTTTTT	ENSG00000266714	ENST00000584762	Transcript	frameshift_variant,splice_region_variant,feature_elongation	201-204	201-204	67-68	-	-	rs371353924	-	1	MYO15B	HGNC	-	protein_coding	-	-	Pfam_domain:PF00063,Superfamily_domains:SSF52540	ENST00000584762.1:c.201_204delGGAGinsTTTTTTTTT	ENSP00000464561.1:p.Glu68PhefsTer?	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73596688-73596692	TTTTTTTTT	ENSG00000266714	ENST00000584516	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	rs371353924	-	1	MYO15B	HGNC	14083	processed_transcript	-	-	-	ENST00000584516.1:n.3395-830_3395-827delGGAGinsTTTTTTTTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79090082-79090084	GGAGCAGG	ENSG00000181409	ENST00000573469	Transcript	downstream_gene_variant	-	-	-	-	-	-	1716	-1	AATK	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79090082-79090084	GGAGCAGG	ENSG00000175866	ENST00000575245	Transcript	downstream_gene_variant	-	-	-	-	-	-	58	1	BAIAP2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79090082-79090084	GGAGCAGG	ENSG00000181409	ENST00000374792	Transcript	downstream_gene_variant	-	-	-	-	-	-	1014	-1	AATK	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79090082-79090084	GGAGCAGG	ENSG00000181409	ENST00000326724	Transcript	downstream_gene_variant	-	-	-	-	-	-	1011	-1	AATK	HGNC	21	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79090082-79090084	GGAGCAGG	ENSG00000181409	ENST00000570932	Transcript	downstream_gene_variant	-	-	-	-	-	-	1014	-1	AATK	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79090082-79090084	GGAGCAGG	ENSG00000175866	ENST00000576225	Transcript	downstream_gene_variant	-	-	-	-	-	-	59	1	BAIAP2	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79090082-79090084	GGAGCAGG	ENSG00000175866	ENST00000392411	Transcript	downstream_gene_variant	-	-	-	-	-	-	305	1	BAIAP2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79090082-79090084	GGAGCAGG	ENSG00000175866	ENST00000428708	Transcript	downstream_gene_variant	-	-	-	-	-	-	58	1	BAIAP2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79090082-79090084	GGAGCAGG	ENSG00000175866	ENST00000435091	Transcript	downstream_gene_variant	-	-	-	-	-	-	59	1	BAIAP2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79090082-79090084	GGAGCAGG	ENSG00000181409	ENST00000417379	Transcript	downstream_gene_variant	-	-	-	-	-	-	1020	-1	AATK	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79090082-79090084	GGAGCAGG	ENSG00000175866	ENST00000572498	Transcript	downstream_gene_variant	-	-	-	-	-	-	235	1	BAIAP2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79090082-79090084	GGAGCAGG	ENSG00000175866	ENST00000321300	Transcript	inframe_insertion	1730-1731	1637-1638	546	A/GSR	gCC/gGGAGCAGG	-	-	1	BAIAP2	HGNC	-	protein_coding	-	-	-	ENST00000321300.6:c.1637_1638delCCinsGGAGCAGG	ENSP00000316338.6:p.Ala546delinsGlySerArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79093266-79093270	AAGCGGGCGT	ENSG00000181409	ENST00000573469	Transcript	intron_variant,nc_transcript_variant,feature_elongation	-	-	-	-	-	-	-	-1	AATK	HGNC	-	retained_intron	-	-	-	ENST00000573469.1:n.432-1148_432-1145delGCTCinsACGCCCGCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79093266-79093270	AAGCGGGCGT	ENSG00000175866	ENST00000575245	Transcript	downstream_gene_variant	-	-	-	-	-	-	3242	1	BAIAP2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79093266-79093270	AAGCGGGCGT	ENSG00000181409	ENST00000374792	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	3703-3706	-	-	-	-	-	-	-1	AATK	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000374792.2:c.*983_*986delGCTCinsACGCCCGCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79093266-79093270	AAGCGGGCGT	ENSG00000181409	ENST00000326724	Transcript	inframe_insertion	4019-4022	3994-3997	1332-1333	AP/TPAS	GCTCcc/ACGCCCGCTTcc	-	-	-1	AATK	HGNC	21	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000326724.4:c.3994_3997delGCTCinsACGCCCGCTT	ENSP00000324196.4:p.Ala1332_Pro1333delinsThrProAlaSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79093266-79093270	AAGCGGGCGT	ENSG00000181409	ENST00000570932	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	873-876	-	-	-	-	-	-	-1	AATK	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000570932.1:c.*555_*558delGCTCinsACGCCCGCTT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79093266-79093270	AAGCGGGCGT	ENSG00000175866	ENST00000576225	Transcript	downstream_gene_variant	-	-	-	-	-	-	3243	1	BAIAP2	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79093266-79093270	AAGCGGGCGT	ENSG00000181409	ENST00000573441	Transcript	downstream_gene_variant	-	-	-	-	-	-	3039	-1	AATK	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79093266-79093270	AAGCGGGCGT	ENSG00000175866	ENST00000392411	Transcript	downstream_gene_variant	-	-	-	-	-	-	3489	1	BAIAP2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79093266-79093270	AAGCGGGCGT	ENSG00000175866	ENST00000428708	Transcript	downstream_gene_variant	-	-	-	-	-	-	3242	1	BAIAP2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79093266-79093270	AAGCGGGCGT	ENSG00000175866	ENST00000435091	Transcript	downstream_gene_variant	-	-	-	-	-	-	3243	1	BAIAP2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79093266-79093270	AAGCGGGCGT	ENSG00000181409	ENST00000417379	Transcript	inframe_insertion	3852-3855	3685-3688	1229-1230	AP/TPAS	GCTCcc/ACGCCCGCTTcc	-	-	-1	AATK	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000417379.1:c.3685_3688delGCTCinsACGCCCGCTT	ENSP00000398796.1:p.Ala1229_Pro1230delinsThrProAlaSer	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79093266-79093270	AAGCGGGCGT	ENSG00000175866	ENST00000572498	Transcript	downstream_gene_variant	-	-	-	-	-	-	3419	1	BAIAP2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79093266-79093270	AAGCGGGCGT	ENSG00000175866	ENST00000321300	Transcript	downstream_gene_variant	-	-	-	-	-	-	2035	1	BAIAP2	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79093266-79093270	AAGCGGGCGT	-	ENSR00001355141	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79093266-79093270	AAGCGGGCGT	-	PB0010.1	MotifFeature	TF_binding_site_variant	-	-	-	-	-	-	-	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Jaspar_Matrix_Egr1:PB0010.1	-	N	-
.	18:34340659-34340669	C	ENSG00000134775	ENST00000445677	Transcript	feature_truncation	3973-3982	3876-3885	1292-1295	MKAV/I	atGAAGGCTGTG/atC	-	-	1	FHOD3	HGNC	-	protein_coding	-	-	SMART_domains:SM00498	ENST00000445677.1:c.3876_3885delGAAGGCTGTGinsC	ENSP00000411430.1:p.Met1292_Val1295delinsIle	-	-	-	-	-	-	-	-	-	-	-	-	-
.	18:34340659-34340669	C	ENSG00000134775	ENST00000592930	Transcript	feature_truncation	3271-3280	3273-3282	1091-1094	MKAV/I	atGAAGGCTGTG/atC	-	-	1	FHOD3	HGNC	-	protein_coding	-	-	SMART_domains:SM00498	ENST00000592930.1:c.3271_3280delGAAGGCTGTGinsC	ENSP00000468163.1:p.Met1091_Val1094delinsIle	-	-	-	-	-	-	-	-	-	-	-	-	-
.	18:34340659-34340669	C	ENSG00000134775	ENST00000257209	Transcript	feature_truncation	4112-4121	3990-3999	1330-1333	MKAV/I	atGAAGGCTGTG/atC	-	-	1	FHOD3	HGNC	26178	protein_coding	-	-	SMART_domains:SM00498	ENST00000257209.4:c.3990_3999delGAAGGCTGTGinsC	ENSP00000257209.3:p.Met1330_Val1333delinsIle	-	-	-	-	-	-	-	-	-	-	-	-	-
.	18:34340659-34340669	C	ENSG00000134775	ENST00000590592	Transcript	feature_truncation	4539-4548	4539-4548	1513-1516	MKAV/I	atGAAGGCTGTG/atC	-	-	1	FHOD3	HGNC	-	protein_coding	-	-	SMART_domains:SM00498	ENST00000590592.1:c.4539_4548delGAAGGCTGTGinsC	ENSP00000466937.1:p.Met1513_Val1516delinsIle	-	-	-	-	-	-	-	-	-	-	-	-	-
.	18:34340659-34340669	C	ENSG00000134775	ENST00000591635	Transcript	feature_truncation	2180-2189	1578-1587	526-529	MKAV/I	atGAAGGCTGTG/atC	-	-	1	FHOD3	HGNC	-	protein_coding	-	-	SMART_domains:SM00498	ENST00000591635.1:c.1578_1587delGAAGGCTGTGinsC	ENSP00000467195.1:p.Met526_Val529delinsIle	-	-	-	-	-	-	-	-	-	-	-	-	-
.	18:34340659-34340669	C	ENSG00000134775	ENST00000585579	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	1	FHOD3	HGNC	-	protein_coding	-	-	-	ENST00000585579.1:c.950+5386_950+5395delGAAGGCTGTGinsC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	18:34340659-34340669	C	ENSG00000134775	ENST00000592128	Transcript	feature_truncation	1257-1266	927-936	309-312	MKAV/I	atGAAGGCTGTG/atC	-	-	1	FHOD3	HGNC	-	protein_coding	-	-	SMART_domains:SM00498	ENST00000592128.1:c.927_936delGAAGGCTGTGinsC	ENSP00000467462.1:p.Met309_Val312delinsIle	-	-	-	-	-	-	-	-	-	-	-	-	-
.	18:34340659-34340669	C	ENSG00000134775	ENST00000359247	Transcript	feature_truncation	3939-3948	3939-3948	1313-1316	MKAV/I	atGAAGGCTGTG/atC	-	-	1	FHOD3	HGNC	-	protein_coding	-	-	SMART_domains:SM00498	ENST00000359247.4:c.3939_3948delGAAGGCTGTGinsC	ENSP00000352186.3:p.Met1313_Val1316delinsIle	-	-	-	-	-	-	-	-	-	-	-	-	-
.	18:56204387-56204402	-	ENSG00000267257	ENST00000591360	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	1157-1171	-	-	-	-	COSM1163660,COSM1163661,rs67925233	-	1	RP11-1151B14.4	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000591360.1:n.1157_1171delCAGTTGATGTGTCCT	-	-	-	-	-	-	-	-	-	1,1,0	-	-	-	-
.	18:56204387-56204402	-	ENSG00000198796	ENST00000589204	Transcript	upstream_gene_variant	-	-	-	-	-	COSM1163660,COSM1163661,rs67925233	37	-1	ALPK2	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1,0	-	-	-	-
.	18:56204387-56204402	-	ENSG00000198796	ENST00000361673	Transcript	inframe_deletion	3231-3245	3017-3031	1006-1011	EDTSTV/V	gAGGACACATCAACTGtt/gtt	COSM1163660,COSM1163661,rs67925233	-	-1	ALPK2	HGNC	20565	protein_coding	-	-	-	ENST00000361673.3:c.3017_3031delAGGACACATCAACTG	ENSP00000354991.3:p.Glu1006_Thr1010del	-	-	-	-	-	-	-	-	1,1,0	-	-	-	-
.	18:56204387-56204402	-	ENSG00000198796	ENST00000587842	Transcript	downstream_gene_variant	-	-	-	-	-	COSM1163660,COSM1163661,rs67925233	970	-1	ALPK2	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1,0	-	-	-	-
.	18:56204391-56204410	CTCT	ENSG00000267257	ENST00000591360	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	1161-1179	-	-	-	-	-	-	1	RP11-1151B14.4	Clone_based_vega_gene	-	antisense	-	-	-	ENST00000591360.1:n.1161_1179delTGATGTGTCCTCAGTCTCCinsCTCT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	18:56204391-56204410	CTCT	ENSG00000198796	ENST00000589204	Transcript	upstream_gene_variant	-	-	-	-	-	-	41	-1	ALPK2	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	18:56204391-56204410	CTCT	ENSG00000198796	ENST00000361673	Transcript	feature_truncation	3223-3241	3009-3027	1003-1009	RETEDTS/RE	agGGAGACTGAGGACACATCA/agAGAG	-	-	-1	ALPK2	HGNC	20565	protein_coding	-	-	-	ENST00000361673.3:c.3009_3027delGGAGACTGAGGACACATCAinsAGAG	ENSP00000354991.3:p.Thr1005_Ser1009del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	18:56204391-56204410	CTCT	ENSG00000198796	ENST00000587842	Transcript	downstream_gene_variant	-	-	-	-	-	-	962	-1	ALPK2	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	18:77905339-77905343	CGCGCTGTGGTGC	ENSG00000267270	ENST00000585422	Transcript	upstream_gene_variant	-	-	-	-	-	-	589	1	AC139100.2	Clone_based_vega_gene	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	18:77905339-77905343	CGCGCTGTGGTGC	ENSG00000267270	ENST00000586421	Transcript	upstream_gene_variant	-	-	-	-	-	-	465	1	AC139100.2	Clone_based_vega_gene	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	18:77905339-77905343	CGCGCTGTGGTGC	ENSG00000267270	ENST00000588226	Transcript	upstream_gene_variant	-	-	-	-	-	-	589	1	AC139100.2	Clone_based_vega_gene	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	18:77905339-77905343	CGCGCTGTGGTGC	ENSG00000267270	ENST00000587254	Transcript	upstream_gene_variant	-	-	-	-	-	-	464	1	AC139100.2	Clone_based_vega_gene	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	18:77905339-77905343	CGCGCTGTGGTGC	ENSG00000101544	ENST00000561195	Transcript	inframe_insertion	58-61	59-62	20-21	LR/PRCGA	cTGCGc/cCGCGCTGTGGTGCc	-	-	1	ADNP2	HGNC	-	protein_coding	-	-	-	ENST00000561195.1:c.58_61delTGCGinsCGCGCTGTGGTGC	ENSP00000467370.1:p.Leu20_Arg21delinsProArgCysGlyAla	-	-	-	-	-	-	-	-	-	-	-	-	-
.	18:77905339-77905343	CGCGCTGTGGTGC	ENSG00000267270	ENST00000589574	Transcript	upstream_gene_variant	-	-	-	-	-	-	551	1	AC139100.2	Clone_based_vega_gene	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	18:77905339-77905343	CGCGCTGTGGTGC	-	ENSR00000528735	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	18:77905339-77905343	TGCGCTGTGGTGC	ENSG00000267270	ENST00000585422	Transcript	upstream_gene_variant	-	-	-	-	-	-	589	1	AC139100.2	Clone_based_vega_gene	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	18:77905339-77905343	CGCGCTGTGGTGC	ENSG00000267270	ENST00000585422	Transcript	upstream_gene_variant	-	-	-	-	-	-	589	1	AC139100.2	Clone_based_vega_gene	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	18:77905339-77905343	TGCGCTGTGGTGC	ENSG00000267270	ENST00000586421	Transcript	upstream_gene_variant	-	-	-	-	-	-	465	1	AC139100.2	Clone_based_vega_gene	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	18:77905339-77905343	CGCGCTGTGGTGC	ENSG00000267270	ENST00000586421	Transcript	upstream_gene_variant	-	-	-	-	-	-	465	1	AC139100.2	Clone_based_vega_gene	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	18:77905339-77905343	TGCGCTGTGGTGC	ENSG00000267270	ENST00000588226	Transcript	upstream_gene_variant	-	-	-	-	-	-	589	1	AC139100.2	Clone_based_vega_gene	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	18:77905339-77905343	CGCGCTGTGGTGC	ENSG00000267270	ENST00000588226	Transcript	upstream_gene_variant	-	-	-	-	-	-	589	1	AC139100.2	Clone_based_vega_gene	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	18:77905339-77905343	TGCGCTGTGGTGC	ENSG00000267270	ENST00000587254	Transcript	upstream_gene_variant	-	-	-	-	-	-	464	1	AC139100.2	Clone_based_vega_gene	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	18:77905339-77905343	CGCGCTGTGGTGC	ENSG00000267270	ENST00000587254	Transcript	upstream_gene_variant	-	-	-	-	-	-	464	1	AC139100.2	Clone_based_vega_gene	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	18:77905339-77905343	TGCGCTGTGGTGC	ENSG00000101544	ENST00000561195	Transcript	inframe_insertion	58-61	59-62	20-21	LR/LRCGA	cTGCGc/cTGCGCTGTGGTGCc	-	-	1	ADNP2	HGNC	-	protein_coding	-	-	-	ENST00000561195.1:c.58_61delTGCGinsTGCGCTGTGGTGC	ENSP00000467370.1:p.Arg21_Cys22insCysGlyAla	-	-	-	-	-	-	-	-	-	-	-	-	-
.	18:77905339-77905343	CGCGCTGTGGTGC	ENSG00000101544	ENST00000561195	Transcript	inframe_insertion	58-61	59-62	20-21	LR/PRCGA	cTGCGc/cCGCGCTGTGGTGCc	-	-	1	ADNP2	HGNC	-	protein_coding	-	-	-	ENST00000561195.1:c.58_61delTGCGinsCGCGCTGTGGTGC	ENSP00000467370.1:p.Leu20_Arg21delinsProArgCysGlyAla	-	-	-	-	-	-	-	-	-	-	-	-	-
.	18:77905339-77905343	TGCGCTGTGGTGC	ENSG00000267270	ENST00000589574	Transcript	upstream_gene_variant	-	-	-	-	-	-	551	1	AC139100.2	Clone_based_vega_gene	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	18:77905339-77905343	CGCGCTGTGGTGC	ENSG00000267270	ENST00000589574	Transcript	upstream_gene_variant	-	-	-	-	-	-	551	1	AC139100.2	Clone_based_vega_gene	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	18:77905339-77905343	TGCGCTGTGGTGC	-	ENSR00000528735	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	18:77905339-77905343	CGCGCTGTGGTGC	-	ENSR00000528735	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:11465264-11465287	AC	ENSG00000183401	ENST00000590919	Transcript	downstream_gene_variant	-	-	-	-	-	-	3721	1	CCDC159	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:11465264-11465287	AC	ENSG00000105520	ENST00000591329	Transcript	upstream_gene_variant	-	-	-	-	-	-	813	1	DKFZP761J1410	Uniprot_gn	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:11465264-11465287	AC	ENSG00000183401	ENST00000589016	Transcript	downstream_gene_variant	-	-	-	-	-	-	3103	1	CCDC159	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:11465264-11465287	AC	ENSG00000183401	ENST00000591691	Transcript	feature_truncation	304-326	305-327	102-109	GHQCLSPP/D	gGGCACCAGTGCCTGAGCCCTCCA/gAC	-	-	1	CCDC159	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000591691.1:c.304_326delGGCACCAGTGCCTGAGCCCTCCAinsAC	ENSP00000465218.1:p.Gly102_Pro109delinsAsp	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:11465264-11465287	AC	ENSG00000105520	ENST00000588196	Transcript	upstream_gene_variant	-	-	-	-	-	-	3085	1	DKFZP761J1410	Uniprot_gn	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:11465264-11465287	AC	ENSG00000183401	ENST00000590054	Transcript	downstream_gene_variant	-	-	-	-	-	-	2090	1	CCDC159	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:11465264-11465287	AC	ENSG00000183401	ENST00000591260	Transcript	feature_truncation	488-510	488-510	163-170	GHQCLSPP/D	gGGCACCAGTGCCTGAGCCCTCCA/gAC	-	-	1	CCDC159	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000591260.1:c.488_510delGGCACCAGTGCCTGAGCCCTCCAinsAC	ENSP00000466796.1:p.Gly163_Pro170delinsAsp	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:11465264-11465287	AC	ENSG00000183401	ENST00000586451	Transcript	downstream_gene_variant	-	-	-	-	-	-	2616	1	CCDC159	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:11465264-11465287	AC	ENSG00000183401	ENST00000586479	Transcript	downstream_gene_variant	-	-	-	-	-	-	840	1	CCDC159	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:11465264-11465287	AC	ENSG00000183401	ENST00000588592	Transcript	downstream_gene_variant	-	-	-	-	-	-	2649	1	CCDC159	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:11465264-11465287	AC	ENSG00000183401	ENST00000592723	Transcript	downstream_gene_variant	-	-	-	-	-	-	762	1	CCDC159	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:11465264-11465287	AC	ENSG00000183401	ENST00000589477	Transcript	downstream_gene_variant	-	-	-	-	-	-	4896	1	CCDC159	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:11465264-11465287	AC	ENSG00000105520	ENST00000586380	Transcript	upstream_gene_variant	-	-	-	-	-	-	855	1	DKFZP761J1410	Uniprot_gn	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:11465264-11465287	AC	ENSG00000183401	ENST00000588821	Transcript	downstream_gene_variant	-	-	-	-	-	-	3103	1	CCDC159	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:11465264-11465287	AC	ENSG00000183401	ENST00000589022	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	553-575	-	-	-	-	-	-	1	CCDC159	HGNC	-	retained_intron	-	-	-	ENST00000589022.1:n.553_575delGGCACCAGTGCCTGAGCCCTCCAinsAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:11465264-11465287	AC	ENSG00000183401	ENST00000590636	Transcript	downstream_gene_variant	-	-	-	-	-	-	3600	1	CCDC159	HGNC	-	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:11465264-11465287	AC	ENSG00000105520	ENST00000586431	Transcript	upstream_gene_variant	-	-	-	-	-	-	820	1	DKFZP761J1410	Uniprot_gn	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:11465264-11465287	AC	ENSG00000183401	ENST00000587531	Transcript	downstream_gene_variant	-	-	-	-	-	-	3610	1	CCDC159	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:11465264-11465287	AC	ENSG00000183401	ENST00000588464	Transcript	downstream_gene_variant	-	-	-	-	-	-	852	1	CCDC159	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:11465264-11465287	AC	ENSG00000183401	ENST00000458408	Transcript	feature_truncation	884-906	782-804	261-268	GHQCLSPP/D	gGGCACCAGTGCCTGAGCCCTCCA/gAC	-	-	1	CCDC159	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000458408.1:c.782_804delGGCACCAGTGCCTGAGCCCTCCAinsAC	ENSP00000402239.1:p.Gly261_Pro268delinsAsp	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:11465264-11465287	AC	ENSG00000183401	ENST00000588790	Transcript	feature_truncation	1229-1251	782-804	261-268	GHQCLSPP/D	gGGCACCAGTGCCTGAGCCCTCCA/gAC	-	-	1	CCDC159	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000588790.1:c.782_804delGGCACCAGTGCCTGAGCCCTCCAinsAC	ENSP00000468232.1:p.Gly261_Pro268delinsAsp	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:11465264-11465287	AC	ENSG00000105520	ENST00000251473	Transcript	upstream_gene_variant	-	-	-	-	-	-	775	1	DKFZP761J1410	Uniprot_gn	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:11465264-11465287	AC	ENSG00000105520	ENST00000591608	Transcript	upstream_gene_variant	-	-	-	-	-	-	887	1	DKFZP761J1410	Uniprot_gn	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:11465264-11465287	AC	ENSG00000183401	ENST00000587868	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	553-575	-	-	-	-	-	-	1	CCDC159	HGNC	-	retained_intron	-	-	-	ENST00000587868.1:n.553_575delGGCACCAGTGCCTGAGCCCTCCAinsAC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:11465264-11465287	AC	-	ENSR00001417901	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:13873843-13873867	AG	ENSG00000037757	ENST00000588526	Transcript	upstream_gene_variant	-	-	-	-	-	-	1479	1	MRI1	HGNC	28469	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:13873843-13873867	AG	ENSG00000037757	ENST00000589290	Transcript	upstream_gene_variant	-	-	-	-	-	-	1528	1	MRI1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:13873843-13873867	AG	ENSG00000037757	ENST00000040663	Transcript	upstream_gene_variant	-	-	-	-	-	-	1496	1	MRI1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:13873843-13873867	AG	ENSG00000104957	ENST00000588071	Transcript	downstream_gene_variant	-	-	-	-	-	-	3877	1	CCDC130	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:13873843-13873867	AG	ENSG00000037757	ENST00000591688	Transcript	upstream_gene_variant	-	-	-	-	-	-	1496	1	MRI1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:13873843-13873867	AG	ENSG00000104957	ENST00000540216	Transcript	downstream_gene_variant	-	-	-	-	-	-	3909	1	CCDC130	HGNC	28118	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:13873843-13873867	AG	ENSG00000104957	ENST00000221554	Transcript	frameshift_variant,feature_truncation	1530-1553	1153-1176	385-392	-	-	-	-	1	CCDC130	HGNC	-	protein_coding	-	-	Pfam_domain:PF04502	ENST00000221554.8:c.1153_1176delTCCCTCGTGGCGGACTACTCCGACinsAG	ENSP00000221554.7:p.Leu386ArgfsTer16	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:13873843-13873867	AG	ENSG00000104957	ENST00000589096	Transcript	downstream_gene_variant	-	-	-	-	-	-	3403	1	CCDC130	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:13873843-13873867	AG	ENSG00000104957	ENST00000589669	Transcript	downstream_gene_variant	-	-	-	-	-	-	57	1	CCDC130	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:13873843-13873867	AG	ENSG00000104957	ENST00000585844	Transcript	downstream_gene_variant	-	-	-	-	-	-	7	1	CCDC130	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:13873843-13873867	AG	ENSG00000104957	ENST00000587019	Transcript	downstream_gene_variant	-	-	-	-	-	-	99	1	CCDC130	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:13873843-13873867	AG	ENSG00000104957	ENST00000586600	Transcript	frameshift_variant,feature_truncation	1656-1679	1153-1176	385-392	-	-	-	-	1	CCDC130	HGNC	-	protein_coding	-	-	Pfam_domain:PF04502	ENST00000586600.1:c.1153_1176delTCCCTCGTGGCGGACTACTCCGACinsAG	ENSP00000465776.1:p.Leu386ArgfsTer16	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:13873843-13873867	AG	ENSG00000037757	ENST00000319545	Transcript	upstream_gene_variant	-	-	-	-	-	-	1479	1	MRI1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:13873843-13873867	AG	ENSG00000104957	ENST00000588809	Transcript	downstream_gene_variant	-	-	-	-	-	-	3552	1	CCDC130	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:13873843-13873867	AG	ENSG00000037757	ENST00000593245	Transcript	upstream_gene_variant	-	-	-	-	-	-	1496	1	MRI1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:13873843-13873867	AG	ENSG00000104957	ENST00000593174	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	1534-1557	-	-	-	-	-	-	1	CCDC130	HGNC	-	retained_intron	-	-	-	ENST00000593174.1:n.1534_1557delTCCCTCGTGGCGGACTACTCCGACinsAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:13873843-13873867	AG	ENSG00000104957	ENST00000586666	Transcript	downstream_gene_variant	-	-	-	-	-	-	294	1	CCDC130	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:13873843-13873867	AG	-	ENSR00000043169	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:20989972	CGCA	ENSG00000160229	ENST00000425625	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	ZNF66	HGNC	-	protein_coding	-	-	-	ENST00000425625.1:c.1254+450_1254+451insCGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:20989972	CGCA	ENSG00000160229	ENST00000344519	Transcript	frameshift_variant,feature_elongation	1589-1590	1566-1567	522-523	-	-	-	-	1	ZNF66	HGNC	-	protein_coding	-	-	Pfam_domain:PF00096,PROSITE_profiles:PS50157,SMART_domains:SM00355,Superfamily_domains:SSF57667	ENST00000344519.8:c.1566_1567insCGCA	ENSP00000461425.1:p.Thr523ArgfsTer5	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:20989972	CGCA	ENSG00000266156	ENST00000582722	Transcript	downstream_gene_variant	-	-	-	-	-	-	1572	1	AC010329.1	Clone_based_ensembl_gene	-	miRNA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:46307976-46307979	GGTCCTCCTCGC	ENSG00000104941	ENST00000600188	Transcript	inframe_insertion	625-627	392-394	131-132	DE/GEEDQ	gACGag/gGCGAGGAGGACCag	-	-	-1	RSPH6A	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Pfam_domain:PF04712,PROSITE_profiles:PS50313	ENST00000600188.1:c.392_394delACGinsGCGAGGAGGACC	ENSP00000471559.1:p.Asp131_Glu132delinsGlyGluGluAspGln	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:46307976-46307979	GGTCCTCCTCGC	ENSG00000104941	ENST00000597055	Transcript	inframe_insertion	1236-1238	1184-1186	395-396	DE/GEEDQ	gACGag/gGCGAGGAGGACCag	-	-	-1	RSPH6A	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,Pfam_domain:PF04712,PROSITE_profiles:PS50313	ENST00000597055.1:c.1184_1186delACGinsGCGAGGAGGACC	ENSP00000472630.1:p.Asp395_Glu396delinsGlyGluGluAspGln	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:46307976-46307979	GGTCCTCCTCGC	ENSG00000104941	ENST00000221538	Transcript	inframe_insertion	1327-1329	1184-1186	395-396	DE/GEEDQ	gACGag/gGCGAGGAGGACCag	-	-	-1	RSPH6A	HGNC	14241	protein_coding	-	-	Low_complexity_(Seg):Seg,Pfam_domain:PF04712,PROSITE_profiles:PS50313	ENST00000221538.3:c.1184_1186delACGinsGCGAGGAGGACC	ENSP00000221538.2:p.Asp395_Glu396delinsGlyGluGluAspGln	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:47092832-47092838	-	ENSG00000268423	ENST00000598743	Transcript	upstream_gene_variant	-	-	-	-	-	-	422	-1	AC011551.3	Clone_based_vega_gene	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:47092832-47092838	-	ENSG00000230510	ENST00000593359	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	-1	PPP5D1	HGNC	-	retained_intron	-	-	-	ENST00000593359.1:n.49+11302_49+11307delAGGCGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:47092832-47092838	-	ENSG00000230510	ENST00000414155	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	PPP5D1	HGNC	-	protein_coding	-	-	-	ENST00000414155.1:c.87+11302_87+11307delAGGCGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:47092832-47092838	-	ENSG00000230510	ENST00000602017	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	PPP5D1	HGNC	44209	protein_coding	-	-	-	ENST00000602017.1:c.50+11302_50+11307delAGGCGG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:47092832-47092838	-	ENSG00000268423	ENST00000593888	Transcript	inframe_deletion	183-188	66-71	22-24	RGG/R	cgAGGCGGg/cgg	-	-	-1	AC011551.3	Clone_based_vega_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000593888.1:c.66_71delAGGCGG	ENSP00000469530.1:p.Gly23_Gly24del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:47092833-47092844	GAGGC	ENSG00000268423	ENST00000598743	Transcript	upstream_gene_variant	-	-	-	-	-	-	423	-1	AC011551.3	Clone_based_vega_gene	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:47092833-47092844	GAGGC	ENSG00000230510	ENST00000593359	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	-1	PPP5D1	HGNC	-	retained_intron	-	-	-	ENST00000593359.1:n.49+11296_49+11306delAGGCCGAGGCGinsGCCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:47092833-47092844	GAGGC	ENSG00000230510	ENST00000414155	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	PPP5D1	HGNC	-	protein_coding	-	-	-	ENST00000414155.1:c.87+11296_87+11306delAGGCCGAGGCGinsGCCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:47092833-47092844	GAGGC	ENSG00000230510	ENST00000602017	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	PPP5D1	HGNC	44209	protein_coding	-	-	-	ENST00000602017.1:c.50+11296_50+11306delAGGCCGAGGCGinsGCCTC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:47092833-47092844	GAGGC	ENSG00000268423	ENST00000593888	Transcript	feature_truncation	177-187	60-70	20-24	GGRGG/GPR	ggAGGCCGAGGCGgg/ggGCCTCgg	-	-	-1	AC011551.3	Clone_based_vega_gene	-	protein_coding	-	-	Low_complexity_(Seg):Seg	ENST00000593888.1:c.60_70delAGGCCGAGGCGinsGCCTC	ENSP00000469530.1:p.Gly21_Gly24delinsProArg	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:49930546-49930549	TCTCTACC	ENSG00000104888	ENST00000543531	Transcript	downstream_gene_variant	-	-	-	-	-	-	2694	-1	SLC17A7	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:49930546-49930549	TCTCTACC	ENSG00000261949	ENST00000576655	Transcript	frameshift_variant,feature_elongation	1179-1181	860-862	287-288	-	-	-	-	1	GFY	HGNC	44663	protein_coding	-	-	PROSITE_profiles:PS50099	ENST00000576655.1:c.860_862delAAAinsTCTCTACC	ENSP00000459439.1:p.Glu287ValfsTer15	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:49930546-49930549	TCTCTACC	ENSG00000104888	ENST00000221485	Transcript	downstream_gene_variant	-	-	-	-	-	-	2109	-1	SLC17A7	HGNC	16704	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:49930546-49930549	TCTCTACC	ENSG00000104888	ENST00000600672	Transcript	downstream_gene_variant	-	-	-	-	-	-	3463	-1	SLC17A7	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:49930546-49930549	TCTCTACC	ENSG00000142538	ENST00000270631	Transcript	upstream_gene_variant	-	-	-	-	-	-	3849	-1	PTH2	HGNC	30828	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:49930546-49930549	TCTCTACC	ENSG00000104888	ENST00000600601	Transcript	downstream_gene_variant	-	-	-	-	-	-	2694	-1	SLC17A7	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:49930546	TCTCT	ENSG00000104888	ENST00000543531	Transcript	downstream_gene_variant	-	-	-	-	-	-	2696	-1	SLC17A7	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:49930546	TCTCT	ENSG00000261949	ENST00000576655	Transcript	frameshift_variant,feature_elongation	1178-1179	859-860	287	-	-	-	-	1	GFY	HGNC	44663	protein_coding	-	-	PROSITE_profiles:PS50099	ENST00000576655.1:c.859_860insTCTCT	ENSP00000459439.1:p.Glu287ValfsTer15	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:49930546	TCTCT	ENSG00000104888	ENST00000221485	Transcript	downstream_gene_variant	-	-	-	-	-	-	2111	-1	SLC17A7	HGNC	16704	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:49930546	TCTCT	ENSG00000104888	ENST00000600672	Transcript	downstream_gene_variant	-	-	-	-	-	-	3465	-1	SLC17A7	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:49930546	TCTCT	ENSG00000142538	ENST00000270631	Transcript	upstream_gene_variant	-	-	-	-	-	-	3848	-1	PTH2	HGNC	30828	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:49930546	TCTCT	ENSG00000104888	ENST00000600601	Transcript	downstream_gene_variant	-	-	-	-	-	-	2696	-1	SLC17A7	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:55048345-55048349	GAGTGGTCAGA	ENSG00000104970	ENST00000482404	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	872-875	-	-	-	-	-	-	1	KIR3DX1	HGNC	-	processed_transcript	-	-	-	ENST00000482404.1:n.872_875delAAGCinsGAGTGGTCAGA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:55048345-55048349	GAGTGGTCAGA	ENSG00000104970	ENST00000465702	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	894-897	-	-	-	-	-	-	1	KIR3DX1	HGNC	-	retained_intron	-	-	-	ENST00000465702.1:n.894_897delAAGCinsGAGTGGTCAGA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:55048345-55048349	GAGTGGTCAGA	ENSG00000104970	ENST00000446586	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	681-684	-	-	-	-	-	-	1	KIR3DX1	HGNC	25043	nonsense_mediated_decay	-	-	-	ENST00000446586.1:c.*173_*176delAAGCinsGAGTGGTCAGA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:55048345-55048349	GAGTGGTCAGA	ENSG00000104970	ENST00000221567	Transcript	frameshift_variant,NMD_transcript_variant,feature_elongation	920-923	913-916	305-306	-	-	-	-	1	KIR3DX1	HGNC	-	nonsense_mediated_decay	-	-	SMART_domains:SM00409,Superfamily_domains:SSF48726	ENST00000221567.6:c.913_916delAAGCinsGAGTGGTCAGA	ENSP00000221567.6:p.Lys305GlufsTer154	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:55048345-55048349	GAGTGGTCAGA	ENSG00000104970	ENST00000335056	Transcript	frameshift_variant,feature_elongation	951-954	913-916	305-306	-	-	-	-	1	KIR3DX1	HGNC	-	protein_coding	-	-	SMART_domains:SM00409,Superfamily_domains:SSF48726	ENST00000335056.3:c.913_916delAAGCinsGAGTGGTCAGA	ENSP00000335388.3:p.Lys305GlufsTer113	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:55048345-55048349	GAGTGGTCAGA	ENSG00000104970	ENST00000471931	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	956-959	-	-	-	-	-	-	1	KIR3DX1	HGNC	-	retained_intron	-	-	-	ENST00000471931.1:n.956_959delAAGCinsGAGTGGTCAGA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:55048345-55048349	GAGTGGTCAGA	ENSG00000104970	ENST00000434659	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	681-684	-	-	-	-	-	-	1	KIR3DX1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000434659.1:c.*173_*176delAAGCinsGAGTGGTCAGA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	19:55048345-55048349	GAGTGGTCAGA	ENSG00000104970	ENST00000447145	Transcript	3_prime_UTR_variant,NMD_transcript_variant,feature_elongation	699-702	-	-	-	-	-	-	1	KIR3DX1	HGNC	-	nonsense_mediated_decay	-	-	-	ENST00000447145.1:c.*173_*176delAAGCinsGAGTGGTCAGA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	20:1896051-1896054	-	ENSG00000198053	ENST00000356025	Transcript	inframe_deletion	410-412	387-389	129-130	PD/P	ccCGAt/cct	COSM128735,rs139878822	-	1	SIRPA	HGNC	-	protein_coding	-	-	Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726	ENST00000356025.3:c.387_389delCGA	ENSP00000348307.3:p.Asp131del	-	-	-	-	-	-:0.269755	-:0.325724	-	1,0	-	-	-	-
.	20:1896051-1896054	-	ENSG00000198053	ENST00000400068	Transcript	inframe_deletion	406-408	387-389	129-130	PD/P	ccCGAt/cct	COSM128735,rs139878822	-	1	SIRPA	HGNC	9662	protein_coding	-	-	Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726	ENST00000400068.3:c.387_389delCGA	ENSP00000382941.3:p.Asp131del	-	-	-	-	-	-:0.269755	-:0.325724	-	1,0	-	-	-	-
.	20:1896051-1896054	-	ENSG00000198053	ENST00000358771	Transcript	inframe_deletion	539-541	387-389	129-130	PD/P	ccCGAt/cct	COSM128735,rs139878822	-	1	SIRPA	HGNC	-	protein_coding	-	-	Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726	ENST00000358771.4:c.387_389delCGA	ENSP00000351621.4:p.Asp131del	-	-	-	-	-	-:0.269755	-:0.325724	-	1,0	-	-	-	-
.	20:1896051-1896060	TGACAC	ENSG00000198053	ENST00000356025	Transcript	feature_truncation	410-418	387-395	129-132	PDDV/PDT	ccCGATGACGTg/ccTGACACg	-	-	1	SIRPA	HGNC	-	protein_coding	-	-	Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726	ENST00000356025.3:c.387_395delCGATGACGTinsTGACAC	ENSP00000348307.3:p.Asp131_Val132delinsThr	-	-	-	-	-	-	-	-	-	-	-	-	-
.	20:1896051-1896060	TGACAC	ENSG00000198053	ENST00000400068	Transcript	feature_truncation	406-414	387-395	129-132	PDDV/PDT	ccCGATGACGTg/ccTGACACg	-	-	1	SIRPA	HGNC	9662	protein_coding	-	-	Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726	ENST00000400068.3:c.387_395delCGATGACGTinsTGACAC	ENSP00000382941.3:p.Asp131_Val132delinsThr	-	-	-	-	-	-	-	-	-	-	-	-	-
.	20:1896051-1896060	TGACAC	ENSG00000198053	ENST00000358771	Transcript	feature_truncation	539-547	387-395	129-132	PDDV/PDT	ccCGATGACGTg/ccTGACACg	-	-	1	SIRPA	HGNC	-	protein_coding	-	-	Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726	ENST00000358771.4:c.387_395delCGATGACGTinsTGACAC	ENSP00000351621.4:p.Asp131_Val132delinsThr	-	-	-	-	-	-	-	-	-	-	-	-	-
.	20:15967742-15967751	CATCAAACCAAGAAGATG	ENSG00000172264	ENST00000378058	Transcript	inframe_insertion	388-396	388-396	130-132	VEQ/HQTKKM	GTGGAGCAA/CATCAAACCAAGAAGATG	-	-	1	MACROD2	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50313	ENST00000378058.3:c.388_396delGTGGAGCAAinsCATCAAACCAAGAAGATG	ENSP00000367297.3:p.Val130_Gln132delinsHisGlnThrLysLysMet	-	-	-	-	-	-	-	-	-	-	-	-	-
.	20:15967742-15967751	CATCAAACCAAGAAGATG	ENSG00000172264	ENST00000217246	Transcript	inframe_insertion	1488-1496	1093-1101	365-367	VEQ/HQTKKM	GTGGAGCAA/CATCAAACCAAGAAGATG	-	-	1	MACROD2	HGNC	16126	protein_coding	-	-	PROSITE_profiles:PS50313	ENST00000217246.4:c.1093_1101delGTGGAGCAAinsCATCAAACCAAGAAGATG	ENSP00000217246.4:p.Val365_Gln367delinsHisGlnThrLysLysMet	-	-	-	-	-	-	-	-	-	-	-	-	-
.	20:15967742-15967751	CATCAAACCAAGAAGATG	ENSG00000172264	ENST00000486914	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_elongation	366-374	-	-	-	-	-	-	1	MACROD2	HGNC	-	processed_transcript	-	-	-	ENST00000486914.1:n.366_374delGTGGAGCAAinsCATCAAACCAAGAAGATG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	20:15967742-15967751	CATCAAACCAAGAAGATG	ENSG00000172264	ENST00000402914	Transcript	inframe_insertion	850-858	388-396	130-132	VEQ/HQTKKM	GTGGAGCAA/CATCAAACCAAGAAGATG	-	-	1	MACROD2	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50313	ENST00000402914.1:c.388_396delGTGGAGCAAinsCATCAAACCAAGAAGATG	ENSP00000385290.1:p.Val130_Gln132delinsHisGlnThrLysLysMet	-	-	-	-	-	-	-	-	-	-	-	-	-
.	20:15967742-15967751	CATCAAACCAAGAAGATG	ENSG00000172264	ENST00000310348	Transcript	inframe_insertion	1093-1101	1093-1101	365-367	VEQ/HQTKKM	GTGGAGCAA/CATCAAACCAAGAAGATG	-	-	1	MACROD2	HGNC	-	protein_coding	-	-	PROSITE_profiles:PS50313	ENST00000310348.4:c.1093_1101delGTGGAGCAAinsCATCAAACCAAGAAGATG	ENSP00000309809.4:p.Val365_Gln367delinsHisGlnThrLysLysMet	-	-	-	-	-	-	-	-	-	-	-	-	-
.	20:15967742-15967751	CATCAAACCAAGAAGATG	ENSG00000172264	ENST00000407045	Transcript	inframe_insertion	283-291	46-54	16-18	VEQ/HQTKKM	GTGGAGCAA/CATCAAACCAAGAAGATG	-	-	1	MACROD2	HGNC	-	protein_coding	-	-	-	ENST00000407045.3:c.46_54delGTGGAGCAAinsCATCAAACCAAGAAGATG	ENSP00000385516.3:p.Val16_Gln18delinsHisGlnThrLysLysMet	-	-	-	-	-	-	-	-	-	-	-	-	-
.	20:15967742-15967751	CATCAAACCAAGAAGATG	-	ENSR00000398326	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	20:43378777-43378783	GCCATAGAGTACG	ENSG00000101098	ENST00000372851	Transcript	downstream_gene_variant	-	-	-	-	-	-	1666	-1	RIMS4	HGNC	16183	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	20:43378777-43378783	GCCATAGAGTACG	ENSG00000244558	ENST00000445420	Transcript	upstream_gene_variant	-	-	-	-	-	-	4142	-1	RP11-445H22.4	Clone_based_vega_gene	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	20:43378777-43378783	GCCATAGAGTACG	ENSG00000244558	ENST00000427303	Transcript	upstream_gene_variant	-	-	-	-	-	-	4116	-1	RP11-445H22.4	Clone_based_vega_gene	-	antisense	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	20:43378777-43378783	GCCATAGAGTACG	ENSG00000124249	ENST00000372861	Transcript	frameshift_variant,feature_elongation	423-428	292-297	98-99	-	-	-	-	1	KCNK15	HGNC	13814	protein_coding	-	-	Pfam_domain:PF07885,Prints_domain:PR01333,Superfamily_domains:SSF81324,PIRSF_domain:PIRSF038061	ENST00000372861.3:c.292_297delCACGCCinsGCCATAGAGTACG	ENSP00000361952.3:p.His98AlafsTer266	-	-	-	-	-	-	-	-	-	-	-	-	-
.	20:43378777-43378783	GCCATAGAGTACG	-	ENSR00001449071	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	20:47775467-47775474	ATAATCTTTTAC	ENSG00000124214	ENST00000371856	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	STAU1	HGNC	11370	protein_coding	-	-	-	ENST00000371856.2:c.206-4866_206-4860delTAAAGGAinsGTAAAAGATTAT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	20:47775467-47775474	ATAATCTTTTAC	ENSG00000124214	ENST00000371828	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	STAU1	HGNC	-	protein_coding	-	-	-	ENST00000371828.3:c.-38-4866_-38-4860delTAAAGGAinsGTAAAAGATTAT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	20:47775467-47775474	ATAATCTTTTAC	ENSG00000124214	ENST00000371802	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	STAU1	HGNC	-	protein_coding	-	-	-	ENST00000371802.1:c.-38-4866_-38-4860delTAAAGGAinsGTAAAAGATTAT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	20:47775467-47775474	ATAATCTTTTAC	ENSG00000124214	ENST00000347458	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	STAU1	HGNC	-	protein_coding	-	-	-	ENST00000347458.5:c.-38-4866_-38-4860delTAAAGGAinsGTAAAAGATTAT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	20:47775467-47775474	ATAATCTTTTAC	ENSG00000124214	ENST00000360426	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	STAU1	HGNC	-	protein_coding	-	-	-	ENST00000360426.4:c.-38-4866_-38-4860delTAAAGGAinsGTAAAAGATTAT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	20:47775467-47775474	ATAATCTTTTAC	ENSG00000124214	ENST00000340954	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	STAU1	HGNC	-	protein_coding	-	-	-	ENST00000340954.7:c.-38-4866_-38-4860delTAAAGGAinsGTAAAAGATTAT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	20:47775467-47775474	ATAATCTTTTAC	ENSG00000124214	ENST00000371792	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	STAU1	HGNC	-	protein_coding	-	-	-	ENST00000371792.1:c.-38-4866_-38-4860delTAAAGGAinsGTAAAAGATTAT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	20:47775467-47775474	ATAATCTTTTAC	ENSG00000124214	ENST00000437404	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	STAU1	HGNC	-	protein_coding	-	-	-	ENST00000437404.2:c.-38-4866_-38-4860delTAAAGGAinsGTAAAAGATTAT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	20:47775467-47775474	ATAATCTTTTAC	ENSG00000124214	ENST00000456866	Transcript	splice_donor_variant,intron_variant,feature_elongation	-	-	-	-	-	-	-	-1	STAU1	HGNC	-	protein_coding	-	-	-	ENST00000456866.2:c.21+2_21+8delTAAAGGAinsGTAAAAGATTAT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46020655-46020670	-	ENSG00000205441	ENST00000380102	Transcript	inframe_deletion	160-174	135-149	45-50	PCCAPS/P	ccCTGCTGCGCCCCCAGc/ccc	COSM127067,rs36208679	-	1	KRTAP10-7	HGNC	22970	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50311	ENST00000380102.2:c.135_149delCTGCTGCGCCCCCAG	ENSP00000369445.2:p.Cys46_Ser50del	-	-	-	-	-	-:0.684242	-:0.842364	-	1,0	-	-	-	-
.	21:46020655-46020670	-	ENSG00000175894	ENST00000323084	Transcript	intron_variant,feature_truncation	-	-	-	-	-	COSM127067,rs36208679	-	-1	TSPEAR	HGNC	1268	protein_coding	-	-	-	ENST00000323084.4:c.83-32781_83-32767delCTGGGGGCGCAGCAG	-	-	-	-	-	-	-:0.684242	-:0.842364	-	1,0	-	-	-	-
.	21:46020655-46020670	-	ENSG00000256212	ENST00000339001	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	135-149	-	-	-	-	COSM127067,rs36208679	-	1	AL773602.1	Clone_based_ensembl_gene	-	pseudogene	-	-	-	ENST00000339001.5:n.135_149delCTGCTGCGCCCCCAG	-	-	-	-	-	-	-:0.684242	-:0.842364	-	1,0	-	-	-	-
.	21:46020655-46020670	-	-	ENSR00000684496	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	COSM127067,rs36208679	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-:0.684242	-:0.842364	-	1,0	-	-	-	-
.	21:46020655-46020678	CTGCTGCA	ENSG00000205441	ENST00000380102	Transcript	feature_truncation	160-182	135-157	45-53	PCCAPSCCA/PCCT	ccCTGCTGCGCCCCCAGCTGCTGCGcc/ccCTGCTGCAcc	-	-	1	KRTAP10-7	HGNC	22970	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50311	ENST00000380102.2:c.135_157delCTGCTGCGCCCCCAGCTGCTGCGinsCTGCTGCA	ENSP00000369445.2:p.Ala48_Ala53delinsThr	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46020655-46020678	CTGCTGCG	ENSG00000205441	ENST00000380102	Transcript	inframe_deletion	160-182	135-157	45-53	PCCAPSCCA/PCCA	ccCTGCTGCGCCCCCAGCTGCTGCGcc/ccCTGCTGCGcc	-	-	1	KRTAP10-7	HGNC	22970	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50311	ENST00000380102.2:c.135_157delCTGCTGCGCCCCCAGCTGCTGCGinsCTGCTGCG	ENSP00000369445.2:p.Pro49_Ala53del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46020655-46020678	CTGCTGCA	ENSG00000175894	ENST00000323084	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	TSPEAR	HGNC	1268	protein_coding	-	-	-	ENST00000323084.4:c.83-32789_83-32767delCGCAGCAGCTGGGGGCGCAGCAGinsTGCAGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46020655-46020678	CTGCTGCG	ENSG00000175894	ENST00000323084	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	TSPEAR	HGNC	1268	protein_coding	-	-	-	ENST00000323084.4:c.83-32789_83-32767delCGCAGCAGCTGGGGGCGCAGCAGinsCGCAGCAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46020655-46020678	CTGCTGCA	ENSG00000256212	ENST00000339001	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	135-157	-	-	-	-	-	-	1	AL773602.1	Clone_based_ensembl_gene	-	pseudogene	-	-	-	ENST00000339001.5:n.135_157delCTGCTGCGCCCCCAGCTGCTGCGinsCTGCTGCA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46020655-46020678	CTGCTGCG	ENSG00000256212	ENST00000339001	Transcript	non_coding_exon_variant,nc_transcript_variant,feature_truncation	135-157	-	-	-	-	-	-	1	AL773602.1	Clone_based_ensembl_gene	-	pseudogene	-	-	-	ENST00000339001.5:n.135_157delCTGCTGCGCCCCCAGCTGCTGCGinsCTGCTGCG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46020655-46020678	CTGCTGCA	-	ENSR00000684496	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46020655-46020678	CTGCTGCG	-	ENSR00000684496	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46020662	T	ENSG00000205441	ENST00000380102	Transcript	synonymous_variant	166	141	47	C	tgC/tgT	rs373191083	-	1	KRTAP10-7	HGNC	22970	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50311	ENST00000380102.2:c.141C>T	ENST00000380102.2:c.141C>T(p.%3D)	-	-	-	-	-	T:0.001914	T:0	-	-	-	-	-	-
.	21:46020662	T	ENSG00000175894	ENST00000323084	Transcript	intron_variant	-	-	-	-	-	rs373191083	-	-1	TSPEAR	HGNC	1268	protein_coding	-	-	-	ENST00000323084.4:c.83-32773G>A	-	-	-	-	-	-	T:0.001914	T:0	-	-	-	-	-	-
.	21:46020662	T	ENSG00000256212	ENST00000339001	Transcript	non_coding_exon_variant,nc_transcript_variant	141	-	-	-	-	rs373191083	-	1	AL773602.1	Clone_based_ensembl_gene	-	pseudogene	-	-	-	ENST00000339001.5:n.141C>T	-	-	-	-	-	-	T:0.001914	T:0	-	-	-	-	-	-
.	21:46020662	T	-	ENSR00000684496	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs373191083	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	T:0.001914	T:0	-	-	-	-	-	-
.	21:46924416-46924443	GGCCCCCCCGGCCCCCCA	ENSG00000182871	ENST00000359759	Transcript	inframe_deletion	4081-4107	4060-4086	1354-1362	GPPGPPGPP/GPPGPP	GGCCCCCCCGGCCCCCCAGGCCCCCCA/GGCCCCCCCGGCCCCCCA	-	-	1	COL18A1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50099	ENST00000359759.4:c.4060_4086delGGCCCCCCCGGCCCCCCAGGCCCCCCAinsGGCCCCCCCGGCCCCCCA	ENSP00000352798.4:p.Gly1360_Pro1362del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924416-46924443	GGCCCCCCC	ENSG00000182871	ENST00000359759	Transcript	inframe_deletion	4081-4107	4060-4086	1354-1362	GPPGPPGPP/GPP	GGCCCCCCCGGCCCCCCAGGCCCCCCA/GGCCCCCCC	-	-	1	COL18A1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50099	ENST00000359759.4:c.4060_4086delGGCCCCCCCGGCCCCCCAGGCCCCCCAinsGGCCCCCCC	ENSP00000352798.4:p.Gly1357_Pro1362del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924416-46924443	GGCCCCCCA	ENSG00000182871	ENST00000359759	Transcript	inframe_deletion	4081-4107	4060-4086	1354-1362	GPPGPPGPP/GPP	GGCCCCCCCGGCCCCCCAGGCCCCCCA/GGCCCCCCA	-	-	1	COL18A1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50099	ENST00000359759.4:c.4060_4086delGGCCCCCCCGGCCCCCCAGGCCCCCCAinsGGCCCCCCA	ENSP00000352798.4:p.Gly1357_Pro1362del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924416-46924443	GGCCCCCCCGGCCCCCCA	ENSG00000182871	ENST00000355480	Transcript	inframe_deletion	3397-3423	3355-3381	1119-1127	GPPGPPGPP/GPPGPP	GGCCCCCCCGGCCCCCCAGGCCCCCCA/GGCCCCCCCGGCCCCCCA	-	-	1	COL18A1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50099	ENST00000355480.5:c.3355_3381delGGCCCCCCCGGCCCCCCAGGCCCCCCAinsGGCCCCCCCGGCCCCCCA	ENSP00000347665.5:p.Gly1125_Pro1127del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924416-46924443	GGCCCCCCC	ENSG00000182871	ENST00000355480	Transcript	inframe_deletion	3397-3423	3355-3381	1119-1127	GPPGPPGPP/GPP	GGCCCCCCCGGCCCCCCAGGCCCCCCA/GGCCCCCCC	-	-	1	COL18A1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50099	ENST00000355480.5:c.3355_3381delGGCCCCCCCGGCCCCCCAGGCCCCCCAinsGGCCCCCCC	ENSP00000347665.5:p.Gly1122_Pro1127del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924416-46924443	GGCCCCCCA	ENSG00000182871	ENST00000355480	Transcript	inframe_deletion	3397-3423	3355-3381	1119-1127	GPPGPPGPP/GPP	GGCCCCCCCGGCCCCCCAGGCCCCCCA/GGCCCCCCA	-	-	1	COL18A1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50099	ENST00000355480.5:c.3355_3381delGGCCCCCCCGGCCCCCCAGGCCCCCCAinsGGCCCCCCA	ENSP00000347665.5:p.Gly1122_Pro1127del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924416-46924443	GGCCCCCCCGGCCCCCCA	ENSG00000173638	ENST00000461785	Transcript	upstream_gene_variant	-	-	-	-	-	-	382	-1	SLC19A1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924416-46924443	GGCCCCCCC	ENSG00000173638	ENST00000461785	Transcript	upstream_gene_variant	-	-	-	-	-	-	382	-1	SLC19A1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924416-46924443	GGCCCCCCA	ENSG00000173638	ENST00000461785	Transcript	upstream_gene_variant	-	-	-	-	-	-	382	-1	SLC19A1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924416-46924443	GGCCCCCCCGGCCCCCCA	ENSG00000182871	ENST00000423214	Transcript	upstream_gene_variant	-	-	-	-	-	-	829	1	COL18A1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924416-46924443	GGCCCCCCC	ENSG00000182871	ENST00000423214	Transcript	upstream_gene_variant	-	-	-	-	-	-	829	1	COL18A1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924416-46924443	GGCCCCCCA	ENSG00000182871	ENST00000423214	Transcript	upstream_gene_variant	-	-	-	-	-	-	829	1	COL18A1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924416-46924443	GGCCCCCCCGGCCCCCCA	ENSG00000173638	ENST00000567670	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	SLC19A1	HGNC	-	protein_coding	-	-	-	ENST00000567670.1:c.1294-5917_1294-5891delTGGGGGGCCTGGGGGGCCGGGGGGGCCinsTGGGGGGCCGGGGGGGCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924416-46924443	GGCCCCCCC	ENSG00000173638	ENST00000567670	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	SLC19A1	HGNC	-	protein_coding	-	-	-	ENST00000567670.1:c.1294-5917_1294-5891delTGGGGGGCCTGGGGGGCCGGGGGGGCCinsGGGGGGGCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924416-46924443	GGCCCCCCA	ENSG00000173638	ENST00000567670	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	SLC19A1	HGNC	-	protein_coding	-	-	-	ENST00000567670.1:c.1294-5917_1294-5891delTGGGGGGCCTGGGGGGCCGGGGGGGCCinsTGGGGGGCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924416-46924443	GGCCCCCCCGGCCCCCCA	ENSG00000173638	ENST00000417954	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	SLC19A1	HGNC	10937	protein_coding	-	-	-	ENST00000417954.1:c.498-5917_498-5891delTGGGGGGCCTGGGGGGCCGGGGGGGCCinsTGGGGGGCCGGGGGGGCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924416-46924443	GGCCCCCCC	ENSG00000173638	ENST00000417954	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	SLC19A1	HGNC	10937	protein_coding	-	-	-	ENST00000417954.1:c.498-5917_498-5891delTGGGGGGCCTGGGGGGCCGGGGGGGCCinsGGGGGGGCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924416-46924443	GGCCCCCCA	ENSG00000173638	ENST00000417954	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	SLC19A1	HGNC	10937	protein_coding	-	-	-	ENST00000417954.1:c.498-5917_498-5891delTGGGGGGCCTGGGGGGCCGGGGGGGCCinsTGGGGGGCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924416-46924443	GGCCCCCCCGGCCCCCCA	ENSG00000182871	ENST00000342220	Transcript	inframe_deletion	856-882	856-882	286-294	GPPGPPGPP/GPPGPP	GGCCCCCCCGGCCCCCCAGGCCCCCCA/GGCCCCCCCGGCCCCCCA	-	-	1	COL18A1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50099	ENST00000342220.5:c.856_882delGGCCCCCCCGGCCCCCCAGGCCCCCCAinsGGCCCCCCCGGCCCCCCA	ENSP00000339118.5:p.Gly292_Pro294del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924416-46924443	GGCCCCCCC	ENSG00000182871	ENST00000342220	Transcript	inframe_deletion	856-882	856-882	286-294	GPPGPPGPP/GPP	GGCCCCCCCGGCCCCCCAGGCCCCCCA/GGCCCCCCC	-	-	1	COL18A1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50099	ENST00000342220.5:c.856_882delGGCCCCCCCGGCCCCCCAGGCCCCCCAinsGGCCCCCCC	ENSP00000339118.5:p.Gly289_Pro294del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924416-46924443	GGCCCCCCA	ENSG00000182871	ENST00000342220	Transcript	inframe_deletion	856-882	856-882	286-294	GPPGPPGPP/GPP	GGCCCCCCCGGCCCCCCAGGCCCCCCA/GGCCCCCCA	-	-	1	COL18A1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50099	ENST00000342220.5:c.856_882delGGCCCCCCCGGCCCCCCAGGCCCCCCAinsGGCCCCCCA	ENSP00000339118.5:p.Gly289_Pro294del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924416-46924443	GGCCCCCCCGGCCCCCCA	ENSG00000182871	ENST00000400337	Transcript	inframe_deletion	2909-2935	2815-2841	939-947	GPPGPPGPP/GPPGPP	GGCCCCCCCGGCCCCCCAGGCCCCCCA/GGCCCCCCCGGCCCCCCA	-	-	1	COL18A1	HGNC	2195	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50099	ENST00000400337.2:c.2815_2841delGGCCCCCCCGGCCCCCCAGGCCCCCCAinsGGCCCCCCCGGCCCCCCA	ENSP00000383191.2:p.Gly945_Pro947del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924416-46924443	GGCCCCCCC	ENSG00000182871	ENST00000400337	Transcript	inframe_deletion	2909-2935	2815-2841	939-947	GPPGPPGPP/GPP	GGCCCCCCCGGCCCCCCAGGCCCCCCA/GGCCCCCCC	-	-	1	COL18A1	HGNC	2195	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50099	ENST00000400337.2:c.2815_2841delGGCCCCCCCGGCCCCCCAGGCCCCCCAinsGGCCCCCCC	ENSP00000383191.2:p.Gly942_Pro947del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924416-46924443	GGCCCCCCA	ENSG00000182871	ENST00000400337	Transcript	inframe_deletion	2909-2935	2815-2841	939-947	GPPGPPGPP/GPP	GGCCCCCCCGGCCCCCCAGGCCCCCCA/GGCCCCCCA	-	-	1	COL18A1	HGNC	2195	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50099	ENST00000400337.2:c.2815_2841delGGCCCCCCCGGCCCCCCAGGCCCCCCAinsGGCCCCCCA	ENSP00000383191.2:p.Gly942_Pro947del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924416-46924443	GGCCCCCCCGGCCCCCCA	ENSG00000182871	ENST00000473212	Transcript	upstream_gene_variant	-	-	-	-	-	-	1490	1	COL18A1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924416-46924443	GGCCCCCCC	ENSG00000182871	ENST00000473212	Transcript	upstream_gene_variant	-	-	-	-	-	-	1490	1	COL18A1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924416-46924443	GGCCCCCCA	ENSG00000182871	ENST00000473212	Transcript	upstream_gene_variant	-	-	-	-	-	-	1490	1	COL18A1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924416-46924443	GGCCCCCCCGGCCCCCCA	-	ENSR00000186456	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924416-46924443	GGCCCCCCC	-	ENSR00000186456	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924416-46924443	GGCCCCCCA	-	ENSR00000186456	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924425-46924443	-	ENSG00000182871	ENST00000359759	Transcript	inframe_deletion	4090-4107	4069-4086	1357-1362	GPPGPP/-	GGCCCCCCAGGCCCCCCA/-	TMP_ESP_21_46924426_46924443	-	1	COL18A1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50099	ENST00000359759.4:c.4069_4086delGGCCCCCCAGGCCCCCCA	ENSP00000352798.4:p.Gly1357_Pro1362del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924425-46924443	GGCCCCCCA	ENSG00000182871	ENST00000359759	Transcript	inframe_deletion	4090-4107	4069-4086	1357-1362	GPPGPP/GPP	GGCCCCCCAGGCCCCCCA/GGCCCCCCA	TMP_ESP_21_46924426_46924443	-	1	COL18A1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50099	ENST00000359759.4:c.4069_4086delGGCCCCCCAGGCCCCCCAinsGGCCCCCCA	ENSP00000352798.4:p.Gly1360_Pro1362del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924425-46924443	-	ENSG00000182871	ENST00000355480	Transcript	inframe_deletion	3406-3423	3364-3381	1122-1127	GPPGPP/-	GGCCCCCCAGGCCCCCCA/-	TMP_ESP_21_46924426_46924443	-	1	COL18A1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50099	ENST00000355480.5:c.3364_3381delGGCCCCCCAGGCCCCCCA	ENSP00000347665.5:p.Gly1122_Pro1127del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924425-46924443	GGCCCCCCA	ENSG00000182871	ENST00000355480	Transcript	inframe_deletion	3406-3423	3364-3381	1122-1127	GPPGPP/GPP	GGCCCCCCAGGCCCCCCA/GGCCCCCCA	TMP_ESP_21_46924426_46924443	-	1	COL18A1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50099	ENST00000355480.5:c.3364_3381delGGCCCCCCAGGCCCCCCAinsGGCCCCCCA	ENSP00000347665.5:p.Gly1125_Pro1127del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924425-46924443	-	ENSG00000173638	ENST00000461785	Transcript	upstream_gene_variant	-	-	-	-	-	TMP_ESP_21_46924426_46924443	391	-1	SLC19A1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924425-46924443	GGCCCCCCA	ENSG00000173638	ENST00000461785	Transcript	upstream_gene_variant	-	-	-	-	-	TMP_ESP_21_46924426_46924443	391	-1	SLC19A1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924425-46924443	-	ENSG00000182871	ENST00000423214	Transcript	upstream_gene_variant	-	-	-	-	-	TMP_ESP_21_46924426_46924443	829	1	COL18A1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924425-46924443	GGCCCCCCA	ENSG00000182871	ENST00000423214	Transcript	upstream_gene_variant	-	-	-	-	-	TMP_ESP_21_46924426_46924443	829	1	COL18A1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924425-46924443	-	ENSG00000173638	ENST00000567670	Transcript	intron_variant,feature_truncation	-	-	-	-	-	TMP_ESP_21_46924426_46924443	-	-1	SLC19A1	HGNC	-	protein_coding	-	-	-	ENST00000567670.1:c.1294-5917_1294-5900delTGGGGGGCCTGGGGGGCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924425-46924443	GGCCCCCCA	ENSG00000173638	ENST00000567670	Transcript	intron_variant,feature_truncation	-	-	-	-	-	TMP_ESP_21_46924426_46924443	-	-1	SLC19A1	HGNC	-	protein_coding	-	-	-	ENST00000567670.1:c.1294-5917_1294-5900delTGGGGGGCCTGGGGGGCCinsTGGGGGGCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924425-46924443	-	ENSG00000173638	ENST00000417954	Transcript	intron_variant,feature_truncation	-	-	-	-	-	TMP_ESP_21_46924426_46924443	-	-1	SLC19A1	HGNC	10937	protein_coding	-	-	-	ENST00000417954.1:c.498-5917_498-5900delTGGGGGGCCTGGGGGGCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924425-46924443	GGCCCCCCA	ENSG00000173638	ENST00000417954	Transcript	intron_variant,feature_truncation	-	-	-	-	-	TMP_ESP_21_46924426_46924443	-	-1	SLC19A1	HGNC	10937	protein_coding	-	-	-	ENST00000417954.1:c.498-5917_498-5900delTGGGGGGCCTGGGGGGCCinsTGGGGGGCC	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924425-46924443	-	ENSG00000182871	ENST00000342220	Transcript	inframe_deletion	865-882	865-882	289-294	GPPGPP/-	GGCCCCCCAGGCCCCCCA/-	TMP_ESP_21_46924426_46924443	-	1	COL18A1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50099	ENST00000342220.5:c.865_882delGGCCCCCCAGGCCCCCCA	ENSP00000339118.5:p.Gly289_Pro294del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924425-46924443	GGCCCCCCA	ENSG00000182871	ENST00000342220	Transcript	inframe_deletion	865-882	865-882	289-294	GPPGPP/GPP	GGCCCCCCAGGCCCCCCA/GGCCCCCCA	TMP_ESP_21_46924426_46924443	-	1	COL18A1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50099	ENST00000342220.5:c.865_882delGGCCCCCCAGGCCCCCCAinsGGCCCCCCA	ENSP00000339118.5:p.Gly292_Pro294del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924425-46924443	-	ENSG00000182871	ENST00000400337	Transcript	inframe_deletion	2918-2935	2824-2841	942-947	GPPGPP/-	GGCCCCCCAGGCCCCCCA/-	TMP_ESP_21_46924426_46924443	-	1	COL18A1	HGNC	2195	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50099	ENST00000400337.2:c.2824_2841delGGCCCCCCAGGCCCCCCA	ENSP00000383191.2:p.Gly942_Pro947del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924425-46924443	GGCCCCCCA	ENSG00000182871	ENST00000400337	Transcript	inframe_deletion	2918-2935	2824-2841	942-947	GPPGPP/GPP	GGCCCCCCAGGCCCCCCA/GGCCCCCCA	TMP_ESP_21_46924426_46924443	-	1	COL18A1	HGNC	2195	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50099	ENST00000400337.2:c.2824_2841delGGCCCCCCAGGCCCCCCAinsGGCCCCCCA	ENSP00000383191.2:p.Gly945_Pro947del	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924425-46924443	-	ENSG00000182871	ENST00000473212	Transcript	upstream_gene_variant	-	-	-	-	-	TMP_ESP_21_46924426_46924443	1490	1	COL18A1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924425-46924443	GGCCCCCCA	ENSG00000182871	ENST00000473212	Transcript	upstream_gene_variant	-	-	-	-	-	TMP_ESP_21_46924426_46924443	1490	1	COL18A1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924425-46924443	-	-	ENSR00000186456	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	TMP_ESP_21_46924426_46924443	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924425-46924443	GGCCCCCCA	-	ENSR00000186456	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	TMP_ESP_21_46924426_46924443	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924439-46924450	AT	ENSG00000182871	ENST00000359759	Transcript	feature_truncation	4104-4114	4083-4093	1361-1365	PPGPR/PC	ccCCCAGGCCCACgt/ccATgt	-	-	1	COL18A1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50099	ENST00000359759.4:c.4083_4093delCCCAGGCCCACinsAT	ENSP00000352798.4:p.Pro1362_Arg1365delinsCys	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924439-46924450	AT	ENSG00000182871	ENST00000355480	Transcript	feature_truncation	3420-3430	3378-3388	1126-1130	PPGPR/PC	ccCCCAGGCCCACgt/ccATgt	-	-	1	COL18A1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50099	ENST00000355480.5:c.3378_3388delCCCAGGCCCACinsAT	ENSP00000347665.5:p.Pro1127_Arg1130delinsCys	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924439-46924450	AT	ENSG00000173638	ENST00000461785	Transcript	upstream_gene_variant	-	-	-	-	-	-	405	-1	SLC19A1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924439-46924450	AT	ENSG00000182871	ENST00000423214	Transcript	upstream_gene_variant	-	-	-	-	-	-	822	1	COL18A1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924439-46924450	AT	ENSG00000173638	ENST00000567670	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	SLC19A1	HGNC	-	protein_coding	-	-	-	ENST00000567670.1:c.1294-5924_1294-5914delGTGGGCCTGGGinsAT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924439-46924450	AT	ENSG00000173638	ENST00000417954	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	SLC19A1	HGNC	10937	protein_coding	-	-	-	ENST00000417954.1:c.498-5924_498-5914delGTGGGCCTGGGinsAT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924439-46924450	AT	ENSG00000182871	ENST00000342220	Transcript	feature_truncation	879-889	879-889	293-297	PPGPR/PC	ccCCCAGGCCCACgt/ccATgt	-	-	1	COL18A1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50099	ENST00000342220.5:c.879_889delCCCAGGCCCACinsAT	ENSP00000339118.5:p.Pro294_Arg297delinsCys	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924439-46924450	AT	ENSG00000182871	ENST00000400337	Transcript	feature_truncation	2932-2942	2838-2848	946-950	PPGPR/PC	ccCCCAGGCCCACgt/ccATgt	-	-	1	COL18A1	HGNC	2195	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50099	ENST00000400337.2:c.2838_2848delCCCAGGCCCACinsAT	ENSP00000383191.2:p.Pro947_Arg950delinsCys	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924439-46924450	AT	ENSG00000182871	ENST00000473212	Transcript	upstream_gene_variant	-	-	-	-	-	-	1483	1	COL18A1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924439-46924450	AT	-	ENSR00000186456	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924439-46924451	ACA	ENSG00000182871	ENST00000359759	Transcript	feature_truncation	4104-4115	4083-4094	1361-1365	PPGPR/PH	ccCCCAGGCCCACGt/ccACAt	-	-	1	COL18A1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50099	ENST00000359759.4:c.4083_4094delCCCAGGCCCACGinsACA	ENSP00000352798.4:p.Pro1362_Arg1365delinsHis	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924439-46924451	ACA	ENSG00000182871	ENST00000355480	Transcript	feature_truncation	3420-3431	3378-3389	1126-1130	PPGPR/PH	ccCCCAGGCCCACGt/ccACAt	-	-	1	COL18A1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50099	ENST00000355480.5:c.3378_3389delCCCAGGCCCACGinsACA	ENSP00000347665.5:p.Pro1127_Arg1130delinsHis	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924439-46924451	ACA	ENSG00000173638	ENST00000461785	Transcript	upstream_gene_variant	-	-	-	-	-	-	405	-1	SLC19A1	HGNC	-	processed_transcript	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924439-46924451	ACA	ENSG00000182871	ENST00000423214	Transcript	upstream_gene_variant	-	-	-	-	-	-	821	1	COL18A1	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924439-46924451	ACA	ENSG00000173638	ENST00000567670	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	SLC19A1	HGNC	-	protein_coding	-	-	-	ENST00000567670.1:c.1294-5925_1294-5914delCGTGGGCCTGGGinsTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924439-46924451	ACA	ENSG00000173638	ENST00000417954	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	SLC19A1	HGNC	10937	protein_coding	-	-	-	ENST00000417954.1:c.498-5925_498-5914delCGTGGGCCTGGGinsTGT	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924439-46924451	ACA	ENSG00000182871	ENST00000342220	Transcript	feature_truncation	879-890	879-890	293-297	PPGPR/PH	ccCCCAGGCCCACGt/ccACAt	-	-	1	COL18A1	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50099	ENST00000342220.5:c.879_890delCCCAGGCCCACGinsACA	ENSP00000339118.5:p.Pro294_Arg297delinsHis	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924439-46924451	ACA	ENSG00000182871	ENST00000400337	Transcript	feature_truncation	2932-2943	2838-2849	946-950	PPGPR/PH	ccCCCAGGCCCACGt/ccACAt	-	-	1	COL18A1	HGNC	2195	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50315,PROSITE_profiles:PS50099	ENST00000400337.2:c.2838_2849delCCCAGGCCCACGinsACA	ENSP00000383191.2:p.Pro947_Arg950delinsHis	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924439-46924451	ACA	ENSG00000182871	ENST00000473212	Transcript	upstream_gene_variant	-	-	-	-	-	-	1482	1	COL18A1	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	21:46924439-46924451	ACA	-	ENSR00000186456	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	22:20138003-20138016	GA	ENSG00000099904	ENST00000405930	Transcript	downstream_gene_variant	-	-	-	-	-	-	2475	1	ZDHHC8	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	22:20138003-20138016	GA	ENSG00000234409	ENST00000444532	Transcript	upstream_gene_variant	-	-	-	-	-	-	578	-1	AC006547.14	Clone_based_vega_gene	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	22:20138003-20138016	GA	ENSG00000234409	ENST00000439765	Transcript	frameshift_variant,feature_truncation	384-396	386-398	129-133	-	-	-	-	-1	AC006547.14	Clone_based_vega_gene	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils	ENST00000439765.2:c.384_396delAGCTGGAGCAGGAinsTC	ENSP00000409542.1:p.Gln129LeufsTer87	-	-	-	-	-	-	-	-	-	-	-	-	-
.	22:20138003-20138016	GA	ENSG00000234409	ENST00000540078	Transcript	frameshift_variant,feature_truncation	287-299	287-299	96-100	-	-	-	-	-1	AC006547.14	Clone_based_vega_gene	-	protein_coding	-	-	Coiled-coils_(Ncoils):ncoils	ENST00000540078.1:c.287_299delAGCTGGAGCAGGAinsTC	ENSP00000445668.1:p.Gln96LeufsTer87	-	-	-	-	-	-	-	-	-	-	-	-	-
.	22:20138003-20138016	GA	ENSG00000099904	ENST00000320602	Transcript	downstream_gene_variant	-	-	-	-	-	-	4031	1	ZDHHC8	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	22:20138003-20138016	GA	ENSG00000099904	ENST00000334554	Transcript	downstream_gene_variant	-	-	-	-	-	-	2474	1	ZDHHC8	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	22:20138003-20138016	GA	-	ENSR00000291555	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	22:20710051-20710079	T	ENSG00000188280	ENST00000583722	Transcript	downstream_gene_variant	-	-	-	-	-	-	3267	1	FAM230A	HGNC	-	protein_coding	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	22:20710051-20710079	T	ENSG00000161133	ENST00000454608	Transcript	intron_variant,feature_truncation	-	-	-	-	-	-	-	-1	USP41	HGNC	-	protein_coding	-	-	-	ENST00000454608.2:c.*3-4858_*3-4831delGACCTCGTTAGCGACGCCCTGGACGGCGinsA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	22:20710051-20710079	T	ENSG00000161133	ENST00000486536	Transcript	intron_variant,nc_transcript_variant,feature_truncation	-	-	-	-	-	-	-	-1	USP41	HGNC	20070	processed_transcript	-	-	-	ENST00000486536.2:n.835-4858_835-4831delGACCTCGTTAGCGACGCCCTGGACGGCGinsA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	22:20710051-20710079	T	ENSG00000188280	ENST00000434783	Transcript	feature_truncation	1968-1995	1784-1811	595-604	TPSRASLTRS/M	aCGCCGTCCAGGGCGTCGCTAACGAGGTCg/aTg	-	-	1	FAM230A	HGNC	45045	protein_coding	-	-	PROSITE_profiles:PS50323,PROSITE_profiles:PS50325,Superfamily_domains:SSF56112	ENST00000434783.3:c.1784_1811delCGCCGTCCAGGGCGTCGCTAACGAGGTCinsT	ENSP00000463576.1:p.Thr595_Ser604delinsMet	-	-	-	-	-	-	-	-	-	-	-	-	-
.	22:20710051-20710079	T	-	ENSR00001531265	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	22:20780025-20780031	CGCGGCCC	ENSG00000244486	ENST00000405555	Transcript	frameshift_variant,feature_elongation	2303-2308	2232-2237	744-746	-	-	-	-	-1	SCARF2	HGNC	19869	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000405555.3:c.2232_2237delCGCCGCinsGGGCCGCG	ENSP00000385589.3:p.Ala745GlyfsTer194	-	-	-	-	-	-	-	-	-	-	-	-	-
.	22:20780025-20780031	CGCGGCCC	ENSG00000244486	ENST00000266214	Transcript	frameshift_variant,feature_elongation	2352-2357	2247-2252	749-751	-	-	-	-	-1	SCARF2	HGNC	-	protein_coding	-	-	Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099	ENST00000266214.5:c.2247_2252delCGCCGCinsGGGCCGCG	ENSP00000266214.5:p.Ala750GlyfsTer194	-	-	-	-	-	-	-	-	-	-	-	-	-
.	22:20780025-20780031	CGCGGCCC	ENSG00000099910	ENST00000429594	Transcript	downstream_gene_variant	-	-	-	-	-	-	3497	-1	KLHL22	HGNC	25888	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	22:20780025-20780031	CGCGGCCC	ENSG00000244486	ENST00000494535	Transcript	downstream_gene_variant	-	-	-	-	-	-	343	-1	SCARF2	HGNC	-	retained_intron	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	22:23047143-23047148	TCTGATATAC	ENSG00000253546	ENST00000521183	Transcript	downstream_gene_variant	-	-	-	-	-	-	3689	1	IGLVVI-22-1	HGNC	15689	IG_V_pseudogene	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	22:23047143-23047148	TCTGATATAC	ENSG00000211661	ENST00000390307	Transcript	frameshift_variant,feature_elongation	246-250	182-186	61-62	-	-	-	-	1	IGLV3-22	HGNC	5906	IG_V_gene	-	-	Pfam_domain:PF07686,Pfam_domain:PF00047,PROSITE_profiles:PS50835,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726	ENST00000390307.2:c.182_186delCCCCTinsTCTGATATAC	ENSP00000374842.2:p.Ala61ValfsTer2	-	-	-	-	-	-	-	-	-	-	-	-	-
.	22:23047145-23047148	TGATATAC	ENSG00000253546	ENST00000521183	Transcript	downstream_gene_variant	-	-	-	-	-	-	3691	1	IGLVVI-22-1	HGNC	15689	IG_V_pseudogene	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	22:23047145-23047148	TGATATAC	ENSG00000211661	ENST00000390307	Transcript	frameshift_variant,feature_elongation	248-250	184-186	62	-	-	-	-	1	IGLV3-22	HGNC	5906	IG_V_gene	-	-	Pfam_domain:PF07686,Pfam_domain:PF00047,PROSITE_profiles:PS50835,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726	ENST00000390307.2:c.184_186delCCTinsTGATATAC	ENSP00000374842.2:p.Pro62Ter	-	-	-	-	-	-	-	-	-	-	-	-	-
.	22:23047145	TGATA	ENSG00000253546	ENST00000521183	Transcript	downstream_gene_variant	-	-	-	-	-	rs370918329	3690	1	IGLVVI-22-1	HGNC	15689	IG_V_pseudogene	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	22:23047145	TGATA	ENSG00000211661	ENST00000390307	Transcript	frameshift_variant,feature_elongation	247-248	183-184	61-62	-	-	rs370918329	-	1	IGLV3-22	HGNC	5906	IG_V_gene	-	-	Pfam_domain:PF07686,Pfam_domain:PF00047,PROSITE_profiles:PS50835,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726	ENST00000390307.2:c.183_184insTGATA	ENSP00000374842.2:p.Pro62Ter	-	-	-	-	-	-	-	-	-	-	-	-	-
.	22:23498328-23498334	TGAGAAAACCACTGAGAAAACA	ENSG00000100228	ENST00000341989	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	RAB36	HGNC	-	protein_coding	-	-	-	ENST00000341989.4:c.526+110_526+115delCAAGACinsTGAGAAAACCACTGAGAAAACA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	22:23498328-23498334	TGAGAAAACCACTGAGAAAACA	ENSG00000100228	ENST00000420895	Transcript	frameshift_variant,feature_elongation	385-390	387-392	129-131	-	-	-	-	1	RAB36	HGNC	-	protein_coding	-	-	SMART_domains:SM00175	ENST00000420895.1:c.385_390delCAAGACinsTGAGAAAACCACTGAGAAAACA	ENSP00000397594.1:p.Lys130GlufsTer37	-	-	-	-	-	-	-	-	-	-	-	-	-
.	22:23498328-23498334	TGAGAAAACCACTGAGAAAACA	ENSG00000100228	ENST00000263116	Transcript	intron_variant,feature_elongation	-	-	-	-	-	-	-	1	RAB36	HGNC	9775	protein_coding	-	-	-	ENST00000263116.2:c.592+110_592+115delCAAGACinsTGAGAAAACCACTGAGAAAACA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	22:23498328	TGAGAAAACCACTGAG	ENSG00000100228	ENST00000341989	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs55675235	-	1	RAB36	HGNC	-	protein_coding	-	-	-	ENST00000341989.4:c.526+109_526+110insTGAGAAAACCACTGAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	22:23498328	TGAGAAAACCACTGAG	ENSG00000100228	ENST00000420895	Transcript	frameshift_variant,feature_elongation	384-385	386-387	129	-	-	rs55675235	-	1	RAB36	HGNC	-	protein_coding	-	-	SMART_domains:SM00175	ENST00000420895.1:c.384_385insTGAGAAAACCACTGAG	ENSP00000397594.1:p.Lys130GlufsTer37	-	-	-	-	-	-	-	-	-	-	-	-	-
.	22:23498328	TGAGAAAACCACTGAG	ENSG00000100228	ENST00000263116	Transcript	intron_variant,feature_elongation	-	-	-	-	-	rs55675235	-	1	RAB36	HGNC	9775	protein_coding	-	-	-	ENST00000263116.2:c.592+109_592+110insTGAGAAAACCACTGAG	-	-	-	-	-	-	-	-	-	-	-	-	-	-
