Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SCAMP4_chr19_1900399_1931013	1923997	C C	CAGTCTGT others(1208): Show CAGTCTGTCCGCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGTC CCCGTGCCCGGCCTATTTTTTATATTGTAGTAGAGACAGGGTTTCACCAT GTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGAGAGTCTGTCTGCCTC GGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGTCCCCGTGCCCGGCCTA TTTTTTATATTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGACTGGT CTCGAACTCCAGAGCTCAGACAGTCTGTCCGCCTCGGCCTCCCGAAGTGC TGGGATGACAGGCGTGAGTCCCCGCGCCCGGCCTATTTTTTATATTGTAG TAGAGACAGGGTTTCACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGC TCAGAGAGTCTGTCTGCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGT GAGTCCCCGTGCCCGGCCTATTTTTTATATTGTAGTAGAGACAGGGTTTC ACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGACAGTCTGTCC GCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGTCCCCGTGCCCG GCCTATTTTTTATATTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGA CTGGTCTCGAACTCCAGAGCTCAGAGAGTCTGTCCGCCTCGGCCTCCCGA AGTGCTGGGATGACAGGCGTGAGTCCCCGTGCCCGGCCTATTTTTTATAT TGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGACTGGTCTCGAACTCC AGAGCTCAGAGAGTCTGTCTGCCTCGGCCTCCCGAAGTGCTGGGATGACA GGCGTGAGTCCCCGTGCCCGGCCTATTTTTTATATTGTAGTAGAGACAGG GTTTCACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGACAGTC TGTCCGCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGTCCCCGT GCCCGGCCTATTTTTTATATTGTAGTAGAGACAGGGTTTCACCATGTTGT TTGGACTGGTCTCGAACTCCAGAGCTCAGACAGTCTGTCCGCCTCGGCCT CCCGAAGTGCTGGGATGACAGGCGTGAGTCCCCGCGCCCGGCCTATTTTT TATATTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGACTGGTCTCGA ACTCCAGAGCTCAGAG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0130 a0001c0001t0005g0130	1	442	0.0023	1215	c.514 others(1230): Show c.514-103_514-102insCGCCTCGGCCTCCCGAAGTGCTGGGATGAC AGGCGTGAGTCCCCGTGCCCGGCCTATTTTTTATATTGTAGTAGAGACAG GGTTTCACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGAGAGT CTGTCTGCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGTCCCCG TGCCCGGCCTATTTTTTATATTGTAGTAGAGACAGGGTTTCACCATGTTG TTTGGACTGGTCTCGAACTCCAGAGCTCAGACAGTCTGTCCGCCTCGGCC TCCCGAAGTGCTGGGATGACAGGCGTGAGTCCCCGCGCCCGGCCTATTTT TTATATTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGACTGGTCTCG AACTCCAGAGCTCAGAGAGTCTGTCTGCCTCGGCCTCCCGAAGTGCTGGG ATGACAGGCGTGAGTCCCCGTGCCCGGCCTATTTTTTATATTGTAGTAGA GACAGGGTTTCACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAG ACAGTCTGTCCGCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGT CCCCGTGCCCGGCCTATTTTTTATATTGTAGTAGAGACAGGGTTTCACCA TGTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGAGAGTCTGTCCGCCT CGGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGTCCCCGTGCCCGGCCT ATTTTTTATATTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGACTGG TCTCGAACTCCAGAGCTCAGAGAGTCTGTCTGCCTCGGCCTCCCGAAGTG CTGGGATGACAGGCGTGAGTCCCCGTGCCCGGCCTATTTTTTATATTGTA GTAGAGACAGGGTTTCACCATGTTGTTTGGACTGGTCTCGAACTCCAGAG CTCAGACAGTCTGTCCGCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCG TGAGTCCCCGTGCCCGGCCTATTTTTTATATTGTAGTAGAGACAGGGTTT CACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGACAGTCTGTC CGCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGTCCCCGCGCCC GGCCTATTTTTTATATTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGG ACTGGTCTCGAACTCCAGAGCTCAGAGAGTCTGTC	SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SEL1L2_chr20_13844247_13995614	13934446	C C	CATATATA others(1208): Show CATATATATATATATTCCATATATATATTCCATATATATATATATTCCAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATTCCATAT ATATATATTCCATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATTCCATATATATATATATTC CATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATTCCATAT ATATATTCCATATATATATATATTCCATATATATATATTCCATATATATA TATTCCATATATATATATTCCATATATATATTCCATATATATTCCATATA TATATTCCATATATATATTCCATATATATATATATTCCATATATATATTC CATATATATATTCCAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	324	0.0031	1215	c.115 others(1232): Show c.115-2676_115-2675insATGGAATATATATATGGAATATATATAT GGAATATATATATATATGGAATATATATATGGAATATATATATGGAATAT ATATGGAATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATATGGAATATATATATGGAATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATGGAATATATATAT ATATGGAATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATGGAATATATA TATATATGGAATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SKI_chr1_2223319_2315213	2281684	G G	GAGGATGC others(1208): Show GAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT GCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAG AAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAG GCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTG GCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGA TCTTCAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGA GAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGA CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCG AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGAC AGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGT GGCGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGGTGGCGGA GATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTC AGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA GAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGC CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAA GACAGGCGGTGGCGGAGATCTTCAGAGAGAGATGCCCGAGAAGACAGGCG GTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCG GAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCT TCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA GAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAG ATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCG AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGAC AGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGG TGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGA GATCTTCAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	330	0.0030	1215	c.970 others(1234): Show c.970-21294_970-21293insAGGATGCCCGAGAAGACAGGCGGTGG CGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGA TCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAG AGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGA GATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCC GAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGATGCCCGAGAAGAC AGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGT GGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAG ATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTC AGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA GGACGCCCGAGAAGACAGGCGGTGGCGAGATCTTCAGAGAGAGAGATGCC CGAGAAGACAGGCGGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAA GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC GGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG AGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT GCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAG AAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAG GCGGTGGCGGAGATCTTCAGAGAGAGAGGATGCCCGAGAAGACAGGCGGT GGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGA GATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTC AGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA GAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
TUBB2B_chr6_3219277_3232653	3222288	T T	TCACCATC others(1208): Show TCACCATCATCACCACCACCACCACCACCACTACCACTACCATCATAATT ACCACCACCATCACCACCACCACCACCACTATCACCATCATCACCACCAC CACCACCACCACTAGCACAACCACAACACTACCACATCACCACCACCACT ACCACTACTACCATCACCATCACCACCACCATCACCACCACCACCACAAT ACTACCACATCACCACCACGATCACCATCATCACCACCACCACCACCACT AGCACAACCACAACACTACCACATCACCACCACCACCACAATACTACCAC ATCACCACCACCACCATCATCATCACCACCACTACCACCACCACTACCAC CACCACCACCATCACTACTACCATCACCACCACCACCACCATCACCACCA CCACGACCACCACAACACTACCACATCACCACCACCACCATCATCATCAC CACCACTACCACCACCACTACCACCACCACCACCATCACTACTACCATCA CCACCACCACCACCATCACCACCACCACGACCACCACAACACTACCACAT CACCACCACCACCATCACCACTGCCACCACCACTACCACCACCACCACTA CCACCATCGCCACCATCACCACCACATCACCACCACCACCACCACTACTA CCACCACCACCACCATCACCACTACTACCATCACCACTACCACCACCACC ACCATCACCACCACCATCACCACCACCACTACCACTACCACCATCACAAT CACCACCACCATCACCACCACCACTACCACCACCACCACTACCACCATCG CCACCATCACCACCACATCACCACCACCACCACACTACCACCACCACCAC CATCACCACTACTACCATCACCACTACTACCACCACCACCATCACAATCA CCACTATCACCATCATCACCATCACTACCACCACCACCATCACCATCATC GCCACCACCACCAACACTACTGCCACCACCACTATTACCATCACCACCAC TACTACCACCACCACTACCATAACCACCATCATCACCATCACCATCATTA CTGCTATTATGACCACCATCACTACCACCATTATCACCACCACCACTAAA CTACCACCACTACCTCACTGCCATCATCACCATCACCATTACTAACATCA CCATTACTAACATCACCATTATAATACTACCACCATCACTACCACCACCA CCACCACCACCATCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	360	0.0028	1215	c.24 others(1226): Show c.2462_*2463insGTGATGGTGGTGGTGGTGGTGGTGGTAGTGATGG TGGTAGTATTATAATGGTGATGTTAGTAATGGTGATGTTAGTAATGGTGA TGGTGATGATGGCAGTGAGGTAGTGGTGGTAGTTTAGTGGTGGTGGTGAT AATGGTGGTAGTGATGGTGGTCATAATAGCAGTAATGATGGTGATGGTGA TGATGGTGGTTATGGTAGTGGTGGTGGTAGTAGTGGTGGTGATGGTAATA GTGGTGGTGGCAGTAGTGTTGGTGGTGGTGGCGATGATGGTGATGGTGGT GGTGGTAGTGATGGTGATGATGGTGATAGTGGTGATTGTGATGGTGGTGG TGGTAGTAGTGGTGATGGTAGTAGTGGTGATGGTGGTGGTGGTGGTAGTG TGGTGGTGGTGGTGATGTGGTGGTGATGGTGGCGATGGTGGTAGTGGTGG TGGTGGTAGTGGTGGTGGTGATGGTGGTGGTGATTGTGATGGTGGTAGTG GTAGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTAGTGGT GATGGTAGTAGTGGTGATGGTGGTGGTGGTGGTAGTAGTGGTGGTGGTGG TGGTGATGTGGTGGTGATGGTGGCGATGGTGGTAGTGGTGGTGGTGGTAG TGGTGGTGGCAGTGGTGATGGTGGTGGTGGTGATGTGGTAGTGTTGTGGT GGTCGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTAGTAGTGATGG TGGTGGTGGTGGTAGTGGTGGTGGTAGTGGTGGTGATGATGATGGTGGTG GTGGTGATGTGGTAGTGTTGTGGTGGTCGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTAGTAGTGATGGTGGTGGTGGTGGTAGTGGTGGTGGTA GTGGTGGTGATGATGATGGTGGTGGTGGTGATGTGGTAGTATTGTGGTGG TGGTGGTGATGTGGTAGTGTTGTGGTTGTGCTAGTGGTGGTGGTGGTGGT GATGATGGTGATCGTGGTGGTGATGTGGTAGTATTGTGGTGGTGGTGGTG ATGGTGGTGGTGATGGTGATGGTAGTAGTGGTAGTGGTGGTGGTGATGTG GTAGTGTTGTGGTTGTGCTAGTGGTGGTGGTGGTGGTGGTGATGATGGTG ATAGTGGTGGTGGTGGTGGTGATGGTGGTGGTAATTATGATGGTAGTGGT AGTGGTGGTGGTGGTGGTGGTGATGATGGTG	TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding		1988		chr6	TogoVar
ABCC2_chr10_99777640_99857594	99838928	T T	TCCCGGAC others(1209): Show TCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC CGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCG GGTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCG GGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCTCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCAGGGGGGCAGACCCCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCAACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGTGGCT GGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CTCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGCAGGGGGGCAGACCCCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCAACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGG TGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	336	0.0030	1216	c.361 others(1235): Show c.3614+2662_3614+2663insAGGGGGGCCGACCCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCC GGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGG GTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGG GCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCTCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGGCAGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCCAACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTG GCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC TCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCAGGGGGGCAGACCCCCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCCAACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGT GGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCGCCCGGACGGGGCGGCTGGCCGGGC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251500	A A	AAGGGGAA others(1209): Show AAGGGGAAAGGAAGGAAGGGGGAGGGGAAGGGAAGGGGAAGGGAAGGGGA AGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGGA AGGGAAGGGAAAAGGGAAGGAGAAAAGGAAGGGAAGGGAAGGGAAGGGGA AGATGAAGGGAAAGGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGGGG AAGGGAAGGGGAAGGGGAAAGAAAGGGAGAGGGAGGGGGCAGGGAAGGGA AGGGGAATGGAAGAGGAAGGAAGGGGAAGGAAGGGGAATGGAAAGGAAGG GAAGGGGAAGGGAAGGGAAAGGGAAGGGGAAGGGGAAGGGGGAGGGGAAG GGGGAGGGGGAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGG GGAGGGGAAGGGGGAGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGA GGGGAAGGGGAGGGGAAGGGGGAGGGGAAGGGGAAAGGAAGGGAAGGGGG AGGGAAAGGAAAGGGGAATGGAAGGAAGGGAAAGGAAGGGGAAGGGAAGG GGAAGGGAAGGGGAAGGGGAGGAGAAGGGGAAGGGGAAGGGAAAAGGAAG GAGAAGAGGAAGGGAAGGGGAGGGGAAGGCAAGGGGAAAGGAAGGAAGGG GGAGGGGAAGGGAAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGGAAGGG GAAGGGAAGGGGAAGGGAAGGGGAAAGGGAAGGGGAAGGGAAAAGGAAGG AGAAGAGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAAAGGAAGG GGGGGAAGGGAAGGTGGAAGGAAGGGGAAGGGGAATGGAAAGGAAGGGGA AGGGGAAGGGAAGGGAAAGGGAAGGGGGAGGGGAAGGGGAAAGGGAAAGG AAGGGGAAGGGAAAGGAAGGGGGAGGGAAAGGAAAGGGGAAGGGAAGGGA AGGGGAAGGGAAGAGAAAGGAAGGGGAAGGGAAGGAGAAGGGGAGGGGAA GGGGAAGGGAAAAGGAGAAGAAGAGGGGAAGGGGAGGGGAAGGGAAGGGG AAAGGAAGGAAGGGGGAGGGGAAAGGATGGAAGGGGGAGGGGAAGGGGAG GGGAAGGGGAGGGGAAGGGGAGGGGAAGGGAAAGGGAAGGGGAAGATGAA GGGGAAGGGAAAGGAAGAGAAGAGGAGGGGAAGGGGAGGGAAAGGAGGGG AAGGGGAGGGGAAGGGG	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0079 a0001c0003t0003g0079	1	242	0.0041	1216	c.927 others(1233): Show c.927+4817_927+4818insCCCCTTCCCCTCCCCTTCCCCTCCTTTC CCTCCCCTTCCCCTCCTCTTCTCTTCCTTTCCCTTCCCCTTCATCTTCCC CTTCCCTTTCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCC CTCCCCCTTCCATCCTTTCCCCTCCCCCTTCCTTCCTTTCCCCTTCCCTT CCCCTCCCCTTCCCCTCTTCTTCTCCTTTTCCCTTCCCCTTCCCCTCCCC TTCTCCTTCCCTTCCCCTTCCTTTCTCTTCCCTTCCCCTTCCCTTCCCTT CCCCTTTCCTTTCCCTCCCCCTTCCTTTCCCTTCCCCTTCCTTTCCCTTT CCCCTTCCCCTCCCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCCTTCCTT TCCATTCCCCTTCCCCTTCCTTCCACCTTCCCTTCCCCCCCTTCCTTTCC CCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCTCTTCTCCTTCCTTTTC CCTTCCCCTTCCCTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCCTC CCCTTCCCTTCCCCTTCCCCTCCCCTTCCCTTCCCCTCCCCCTTCCTTCC TTTCCCCTTGCCTTCCCCTCCCCTTCCCTTCCTCTTCTCCTTCCTTTTCC CTTCCCCTTCCCCTTCTCCTCCCCTTCCCCTTCCCTTCCCCTTCCCTTCC CCTTCCTTTCCCTTCCTTCCATTCCCCTTTCCTTTCCCTCCCCCTTCCCT TCCTTTCCCCTTCCCCTCCCCCTTCCCCTCCCCTTCCCCTCCCCCTTCCC CTCCCCCTTCCCCTCCCCCTTCCCTCCCCCTTCCCCTCCCCCTTCCCCTC CCCCTTCCCCTCCCCCTTCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCC CCTTCCCCTTCCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCTTCCTTTCC ATTCCCCTTCCTTCCCCTTCCTTCCTCTTCCATTCCCCTTCCCTTCCCTG CCCCCTCCCTCTCCCTTTCTTTCCCCTTCCCCTTCCCTTCCCCTCCCCTT CCCCTCCTCTTCTCCTTCCTTTTCCCTTTCCCTTCATCTTCCCCTTCCCT TCCCTTCCCTTCCTTTTCTCCTTCCCTTTTCCCTTCCCTTCCCCTTCCCC TTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCT TCCCCTTCCCTTCCCCTCCCCCTTCCTTCCTTTCCCCT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ATP10A_chr15_25673712_25868327	25758725	C C	CCTCATTC others(1209): Show CCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTC CGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAAC TCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTA ACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCAT TCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTA ACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTC ATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCA CCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTC CGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAAC TCATTCCTATCACCTGCTCCACCCTAACTCATTCCCACCACCTGCTCCAC CCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGATCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAT CACCTGCTCCACCCTAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0003 a0003	a0003c0064 a0003c0064	a0003c0064t0001 a0003c0064t0001	a0003c0064t0001g0241 a0003c0064t0001g0241	1	300	0.0033	1216	c.654 others(1235): Show c.654+22293_654+22294insTTAGGGTGGAGCAGGTGATCGGAATG AGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATC GGAATGAGTTAGGGTGGAGCAGGTGATAGGAATGAGTTAGGGTGGAGCAG GTGGTGGGAATGAGTTAGGGTGGAGCAGGTGATAGGAATGAGTTAGGGTG GAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAA TGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGG TCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGC AGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGG TGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAG TTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGA GCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAG GGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATG AGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTC GGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGG TCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGT GGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGA GCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTG GAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGG TGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAG TTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGT GATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
B4GALNT4_chr11_364499_387117	384908	T T	TGGGCAAG others(1209): Show TGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCC ACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCT GGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACA GCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGAC CCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGC CTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCA CAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAG ACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAG GCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCC CACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCA AGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCC AGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACC CCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGG CAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTC CCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAA CCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCG GGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCAC TCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGG AACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGC CGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCC ACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCT GGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACA GCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGAC CCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGC CTGGAACCCCCACAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0172 a0001c0003t0002g0172	1	184	0.0054	1216	c.31 others(1227): Show c.3116_*3117insGGGCAAGACCCACTCCCAGGCCTGGAACCCCCAC AGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGA CCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGG CCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCC ACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAA GACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCA GGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCC CCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGC AAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCC CAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAAC CCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGG GCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACT CCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGA ACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCC GGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCA CTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTG GAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAG CCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACC CACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCC TGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCAC AGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGA CCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGG CCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCC ACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAA GACCCACTCCCAGGCCTGGAACCCCCACAGCC	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding		2792		chr11	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(1209): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGG GCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTG CAGTTTATAGATAATATGGGGGGGCGGGGCGGGGGTGCAGTTTATAGATA ATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGG CGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTT ATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGG GGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTG CAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAA TATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGT GGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGG GCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAAT ATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCG GGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATA GATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCG GGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCA GTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAAT ATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGC AGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTG TAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGG GGTGGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	272	0.0037	1216	c.109 others(1235): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAG ATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGC GGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGGCGGGGCGGGGGTGC AGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATA TGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCG GTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGC GGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCA GTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATA TGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAG ATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCG GGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATAT GGGGGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGA GTATAGTTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGAT AATATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGG TAGGGGAGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTAC TTTATAGATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATA TGGGGGCGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAG GGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTAT AGATAATATGGGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134657126	G G	GGGGGTGG others(1209): Show GGGGGTGGGGAGGGGGGTGCAGTTTATAGATGATATGGGGGTGGGGAGGG GGGTGCAGTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAG ATGATATGGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGT GGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAG ATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATAT GGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGG GGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGTAGCTTATAG ATAATATGGGGGCAGGGCCAGAGTATAGTTTATAGATAATATGGAGGCGG GGCGGGGGTACAGTTTATAGATAATATGTAGGCGGGGCGGGGGTGTAGTT TATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAGTGTATAGATAATATG GGGGGCGGGGCAGGGGGTGTACTTTATAGATAATATGGGGGGCGGGGTAG GGGGTGTAGTTTATAGATAATATGGGGGCGGGGCAGGGGGTGCAATTTAT AGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGTAGATAATATGGGGGG CAGGGCAGGGGGTGCAGTTTATAGATAATATGGGGGTGGGGTAGGGGGTG TAGTTTATAGATAATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0025 a0001c0002t0005g0025	1	272	0.0037	1216	c.109 others(1235): Show c.109+14834_109+14835insTGGGGAGGGGGGTGCAGTTTATAGAT GATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGATATGGGGGTGGG GAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGACAGGGTGCAGTTT ATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGG GGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGT GCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATA ATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGG CGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTT ATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGG GGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGT GCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATA ATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGG GCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTT ATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGG GGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGG TGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGAT AATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGG GCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTT ATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGTAG GCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGT GCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGAT AATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGG GGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGT TTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATAT GGGGGTGGGGTAGGGGGTGTAGTTTATAGATAATATGGGG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COMMD9_chr11_36267292_36294424	36287046	A A	ATATGTAT others(1209): Show ATATGTATACTACATACTATGTATATCGCGTAGTATGTATACTACATACT ATGTATATCGCGTAGTATGTATACTACATACTATGTATATCGCGTAGTAT GTATACTACATACTATGTATATCGCGTAGTATGTATACTACATACTATGT ATATCGCGTAGTATGTATACTACATACTATGTATATCGCGTAGTATGTAT ACTACATACTATGTATATCGCGTAGTATGTATACTACATACTATGTATAT CGCGTAGTATGTATACTACATACTATGTATATCGCGTAGTATGTATACTA CATACTATGTATATCGCGTAGTATGTATACTACATACTATGTATATCGCG TAGTATGTATACTACATACTATGTATATCGCGTAGTATGTATACTACATA CTATGTATATCGCGTAGTATGTATACTACATACTATGTATATCGCGTAGT ATGTATACTACATACTATGTATATCGCGTAGTATGTATACTACATACTAT GTATATCGCGTAGTATGTATACTACATACTATGTATATCGCGTAGTATGT ATACTACATACTATGTATATCGCGTAGTATGTATACTACATACTATGTAT ATCGCGTAGTATGTATACTACATACTATGTATATCGCGTAGTATGTATAC TACATACTATGTATATCGCGTAGTATGTATACTACATACTATGTATATCG CGTAGTATGTATACTACATACTATGTATATCGCGTAGTATGTATACTACA TACTATGTATATCGCGTAGTATGTATACTACATACTATGTATATCGCGTA GTATGTATACTACATACTATGTATATCGCGTAGTATGTATACTACATACT ATGTATATCGCGTAGTATGTATACTACATACTATGTATATCGCGTAGTAT GTATACTACATACTATGTATATCGCGTAGTATGTATACTACATACTATGT ATATCGCGTAGTATGTATACTACATACTATGTATATCGCGTAGTATGTAT ACTACATACTATGTATATCGCGTAGTATGTATACTACATACTATGTATAT CGCGTAGTATGTATACTACATACTATGTATATCGCGTAGTATGTATACTA CATACTATGTATATCGCGTAGTATGTATACTACATACTATGTATATCGCG TAGTATGTATACTACATACTATGTATATCGCGTAGTATGTATACTACATA CTATGTATATCGCGTAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	448	0.0022	1216	c.51+ others(1231): Show c.51+2315_51+2316insCTACGCGATATACATAGTATGTAGTATACA TACTACGCGATATACATAGTATGTAGTATACATACTACGCGATATACATA GTATGTAGTATACATACTACGCGATATACATAGTATGTAGTATACATACT ACGCGATATACATAGTATGTAGTATACATACTACGCGATATACATAGTAT GTAGTATACATACTACGCGATATACATAGTATGTAGTATACATACTACGC GATATACATAGTATGTAGTATACATACTACGCGATATACATAGTATGTAG TATACATACTACGCGATATACATAGTATGTAGTATACATACTACGCGATA TACATAGTATGTAGTATACATACTACGCGATATACATAGTATGTAGTATA CATACTACGCGATATACATAGTATGTAGTATACATACTACGCGATATACA TAGTATGTAGTATACATACTACGCGATATACATAGTATGTAGTATACATA CTACGCGATATACATAGTATGTAGTATACATACTACGCGATATACATAGT ATGTAGTATACATACTACGCGATATACATAGTATGTAGTATACATACTAC GCGATATACATAGTATGTAGTATACATACTACGCGATATACATAGTATGT AGTATACATACTACGCGATATACATAGTATGTAGTATACATACTACGCGA TATACATAGTATGTAGTATACATACTACGCGATATACATAGTATGTAGTA TACATACTACGCGATATACATAGTATGTAGTATACATACTACGCGATATA CATAGTATGTAGTATACATACTACGCGATATACATAGTATGTAGTATACA TACTACGCGATATACATAGTATGTAGTATACATACTACGCGATATACATA GTATGTAGTATACATACTACGCGATATACATAGTATGTAGTATACATACT ACGCGATATACATAGTATGTAGTATACATACTACGCGATATACATAGTAT GTAGTATACATACTACGCGATATACATAGTATGTAGTATACATACTACGC GATATACATAGTATGTAGTATACATACTACGCGATATACATAGTATGTAG TATACATACTACGCGATATACATAGTATGTAGTATACATACTACGCGATA TACATAGTATGTAGTATACATACTACGCGATATACATAGTATGTAGTATA CATACTACGCGATATACATAGTATGTAGTATACATA	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
CYLC1_chrX_83856146_83891698	83878183	G G	GTATATAA others(1209): Show GTATATAAATATATATAAATATATATAAATATATATAAAAATATATATAT AAATATATATAAATATATATAAAAATATATATAAATATATATAATATATA TATAAAAATATATATTATATATATTATATATATAAATATATATATAAAAA TATATATTATATATATTATATATATAAATATATATATAAAAATATATATT ATATATATTATATATATAAATATATATATAAAAATATATATTATATATAT TATATATATAAATATATATATAAAAATATATATTATATATATTATATATA TAAATATATATATAAAAATATATATTATATATATTATATATATAAATATA TATATAAAAATATATATTATATATATTATATATATAAATATATATATAAA TATATATTATATATATTATATATAATATATATATAAAATATATATAAATA TATATAAATATATATAAAATATATAAATATATATAAAAATATATATAAAA TATATAAATATATATAAAAATATATATATAAATATATATATAAAAATATA TATAAAAATATGTATATAATATATATATGAAAATATATATAAAAATATAT ATATAAATATATATCAATATATATATAAAATATATATAAATATATATATA AAATATATATATAAAATATATATAAATACATATATAAATATATATATAAA TATATATAAATACATATATAAATATATATATAAATATATATAAATATATA TATATAAAATATATATAAAATATATATATAAAATATATATAAAAATATAT ATATAAAATATATATAAAAATATATATATAAAATATATATAAAAATATAT ATATAAAATATATATAAAAATATATATATAAAATATATATAAAAATATAT ATATAAAATATATATAAAAATATATATATAAAATATATATAAAAATATAT ATAAATATATATAAATATATAAAAACATATATAAATATATAAATATATAT AAATATATAAATATATATATAAATATATAAATATATATAAATATATATAA ATATATAAATATATATAAATATATATAAATATATATATAAATATATATAT AAATATATATAAATATATATAAATATATATAAATATATATAAATATATAT ATAAATATATATAAATATATATAAATATATATAAATATATATAAATATAT ATAAATATATATAAATA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19012.hp1 NA19057.hp1 others(1): Show NA19009.hp1 NA19012.hp1 NA19057.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0067 a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0067	4	208	0.0192	1216	c.192 others(1235): Show c.1923+3568_1923+3569insAATATATATAAATATATATAAAAATA TATATATAAATATATATAAATATATATAAAAATATATATAAATATATATA ATATATATATAAAAATATATATTATATATATTATATATATAAATATATAT ATAAAAATATATATTATATATATTATATATATAAATATATATATAAAAAT ATATATTATATATATTATATATATAAATATATATATAAAAATATATATTA TATATATTATATATATAAATATATATATAAAAATATATATTATATATATT ATATATATAAATATATATATAAAAATATATATTATATATATTATATATAT AAATATATATATAAAAATATATATTATATATATTATATATATAAATATAT ATATAAATATATATTATATATATTATATATAATATATATATAAAATATAT ATAAATATATATAAATATATATAAAATATATAAATATATATAAAAATATA TATAAAATATATAAATATATATAAAAATATATATATAAATATATATATAA AAATATATATAAAAATATGTATATAATATATATATGAAAATATATATAAA AATATATATATAAATATATATCAATATATATATAAAATATATATAAATAT ATATATAAAATATATATATAAAATATATATAAATACATATATAAATATAT ATATAAATATATATAAATACATATATAAATATATATATAAATATATATAA ATATATATATATAAAATATATATAAAATATATATATAAAATATATATAAA AATATATATATAAAATATATATAAAAATATATATATAAAATATATATAAA AATATATATATAAAATATATATAAAAATATATATATAAAATATATATAAA AATATATATATAAAATATATATAAAAATATATATATAAAATATATATAAA AATATATATAAATATATATAAATATATAAAAACATATATAAATATATAAA TATATATAAATATATAAATATATATATAAATATATAAATATATATAAATA TATATAAATATATAAATATATATAAATATATATAAATATATATATAAATA TATATATAAATATATATAAATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATAAATATATATA AATATATATAAATATATATAAATATATATAAATATATATA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
DISP3_chr1_11474155_11542551	11522716	G G	GACCCAGC others(1209): Show GACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGG GCCCAGCCAGGACCCAGCCAGGGCCCCAGCCAGGACCCAGCCAGGGCCCA GCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGA GCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACCCAG CCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCGAGAGCCCAGCCAGGG CCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGC CAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGGA ACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAG CCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGA CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGC CAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGC CCAGCCAGGGCCCAGCGAGAAGCCCAGCCAGGACCCAGCCAGAGCCCAGC CAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGGCCCAGCCAGGA CCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGC CAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGC CCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCC AGGACCCAGCCAGAGCCCAGCCAGGGACCCAGCCAGGACCCAGCCAGGAC CCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCC AGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACC CAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCA GAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCC AGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAG GACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCA GCCAGGGCCCAGCGAGA	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0254 a0003c0003t0001g0254	1	358	0.0028	1216	c.236 others(1235): Show c.2363-1226_2363-1225insACCCAGCCAGAGCCCAGCCAGAGCCC AGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCC AGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAG GGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCA GCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCCAAGACCCAGCCAGG ACCCAGCGAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAG CCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAG CCCAGCCAGAGCCCAGCCAGGGAACCCAGCCAGAGCCCAGCCAGGGCCCA GCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGG GCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAG CCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAG CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAAGCCCAG CCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGA CCCAGCCAGAGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAG CCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGA CCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGC CAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGA CCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGC CAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGC CCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCC AGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACC CAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGA GAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGA	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20			chr1	TogoVar
DLGAP2_chr8_732628_1713476	1471223	C C	CTTTCCCG others(1209): Show CTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGACTC CTCCAGCTTTTCCCGACCCCTCCAGCTTTTCCCGACCCCTCCAGCCTTTC CCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCA GCCTTTCCCGACCCCTCCAGGCTTTCCCGACCCCTCCAGCTTTTCCCGAC CCCTCCAGCCTTTCCCGACCCCTGCAGCCTTTCCCGACCCCTGCAGCTTT TCCCGACTCCTCCAGCTTTTCCCGACCCCTCCAGCTTTTCCCGACCCCTC CAGCCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCCTTTCCCG ACCCCTCCAGCCTTTCCCGACCCCTGCAGCTTTTCCCGACCCCTCCAGGC TTTCCCGACCCCTGCAGCTTTTCCCGACCCCTCCAGCCTTTCCCGACCCC TCCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTGCAGCTTTTCC CGACCCCTCCAGGCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAG CCTTTCCCGACCCCTGCAGCTTTTCCCGACCCCTCCAGCCTTTCCCGACC CCTCCAGGCTTTCCCGACCCCTCCAGCTTTTCCCGACCCCTCCAGCCTTT CCCGACCCCTCCAGGCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCC AGCCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGA CCCCTCCAGCCTTTCCCGACCCCTCCAGGCTTTCCCGACCCCTCCAGCCT TTCCCGACCCCTCCAGCCTTTCCCGACCCCTGCAGCTTTTCCCGACCCCT CCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCCTTTCCC GACCGCTCCAGGCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGC CTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTGCAGCTTTTCCCGACCC CTCCAGCCTTTCCCGACCCCTGCAGCTTTTCCCGACCCCTCCAGGCTTTC CCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCA GGCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGAC CCCTGCAGCTTTTCCCGACCCCTCCAGGCTTTCCCGACCCCTCCAGCCTT TCCCGACCCCTGCAGCT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	40	0.0250	1216	c.107 others(1235): Show c.107-30107_107-30106insCCTTTCCCGACTCCTCCAGCTTTTCC CGACCCCTCCAGCTTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAG CCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGACC CCTCCAGGCTTTCCCGACCCCTCCAGCTTTTCCCGACCCCTCCAGCCTTT CCCGACCCCTGCAGCCTTTCCCGACCCCTGCAGCTTTTCCCGACTCCTCC AGCTTTTCCCGACCCCTCCAGCTTTTCCCGACCCCTCCAGCCTTTCCCGA CCCCTCCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCCT TTCCCGACCCCTGCAGCTTTTCCCGACCCCTCCAGGCTTTCCCGACCCCT GCAGCTTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCCTTTCCC GACCCCTCCAGCCTTTCCCGACCCCTGCAGCTTTTCCCGACCCCTCCAGG CTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGACCC CTGCAGCTTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGGCTTTC CCGACCCCTCCAGCTTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCA GGCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGAC CCCTCCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCCTT TCCCGACCCCTCCAGGCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTC CAGCCTTTCCCGACCCCTGCAGCTTTTCCCGACCCCTCCAGCCTTTCCCG ACCCCTCCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGACCGCTCCAGGC TTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGACCCC TCCAGCCTTTCCCGACCCCTGCAGCTTTTCCCGACCCCTCCAGCCTTTCC CGACCCCTGCAGCTTTTCCCGACCCCTCCAGGCTTTCCCGACCCCTCCAG CCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGGCTTTCCCGACC CCTCCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTGCAGCTTTT CCCGACCCCTCCAGGCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTGC AGCTTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(1209): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGG AGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGA GAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGA GGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAG GGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGGAG GAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAG GAGGGGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGGGGAGGAGGGAGGA GGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGA GGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGG GAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGG GAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAG GAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGG AGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGG AGGAGGGAGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGG AGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAG GGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGA GGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGA GGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGG AGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGAGG AGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAAGGAGGAGGGAGGAGGA GGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGG AGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGA GGAGGGAGGAGGAGGAGGAGGAGGGGGGAGGAGGGAGGAGGGAGGAGGAG GAGGGGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGA GGGGGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0126 a0001c0126	a0001c0126t0001 a0001c0126t0001	a0001c0126t0001g0056 a0001c0126t0001g0056	1	252	0.0040	1216	c.118 others(1235): Show c.11806-562_11806-561insCTCCTCCTCCTCCCCCCTCCTCCTCC TCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCCCCTCCTCCTCCTC CCTCCTCCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCC TCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCC TCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCC CTCCTCCTTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCT CCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCC TCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTC CTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTC CCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTC CTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCC CTCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCC TCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCC TCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCT CCCTCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTCCCTCC TCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCT CCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTC CTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTC CTCCCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTC CTCCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCCCTC CTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCCCTCCTCCTC CCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCC TCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCTCCTCCTCC TCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCT CCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1209): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0013 a0013	a0013c0022 a0013c0022	a0013c0022t0003 a0013c0022t0003	a0013c0022t0003g0275 a0013c0022t0003g0275	1	316	0.0032	1216	c.49 others(1227): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCC CTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGG TAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTC CCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTG CCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCG CCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGA CAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTG GCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGT CGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCC TCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGA GAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCG CTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTT AGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCT GGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCC CTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCT CGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCC ATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGT TGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATG AGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGC CCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAAC TATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGT CAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTT GTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGC TCCCCCTTCCCGTCCACATGCCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1209): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0211 a0003c0004t0001g0211	1	316	0.0032	1216	c.49 others(1227): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC CTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGG TAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTC CCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTG CCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCG CCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGA CAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTG GCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGT CGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCC TCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGA GAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCG CTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTT AGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCT GGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCC CTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCT CGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCC ATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGT TGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATG AGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGC CCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAAC TATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGT CAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTT GTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGC TCCCCCTTCCCGTCCACATGCCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1209): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01884.hp1 HG02280.hp1 others(2): Show HG00639.hp1 HG01884.hp1 HG02280.hp1 HG02559.hp1 NA19056.hp2	a0003 a0014 a0030 others(2): Show a0003 a0014 a0030 a0044 a0050	a0003c0033 a0014c0059 a0030c0030 others(2): Show a0003c0033 a0014c0059 a0030c0030 a0044c0086 a0050c0060	a0003c0033t0001 a0014c0059t0006 a0030c0030t0003 others(2): Show a0003c0033t0001 a0014c0059t0006 a0030c0030t0003 a0044c0086t0002 a0050c0060t0006	a0003c0033t0001g0243 a0014c0059t0006g0190 a0030c0030t0003g0302 others(2): Show a0003c0033t0001g0243 a0014c0059t0006g0190 a0030c0030t0003g0302 a0044c0086t0002g0047 a0050c0060t0006g0213	5	316	0.0158	1216	c.49 others(1227): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCC CCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACT ATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTC AGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTG TTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCT CCCCCTTCCCGTCCACATGCCCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1209): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp2 HG01943.hp2 HG01346.hp1 HG01346.hp2 HG01943.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0001c0009 a0012c0011 a0001c0001 a0001c0009 a0012c0011	a0001c0001t0001 a0001c0009t0002 a0012c0011t0005 a0001c0001t0001 a0001c0009t0002 a0012c0011t0005	a0001c0001t0001g0108 a0001c0009t0002g0062 a0012c0011t0005g0072 a0001c0001t0001g0108 a0001c0009t0002g0062 a0012c0011t0005g0072	3	316	0.0095	1216	c.49 others(1227): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCC CCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACT ATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTC AGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTG TTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCT CCCCCTTCCCGTCCACATGCCCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1209): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp2 NA18943.hp1 HG00642.hp1 HG00642.hp2 NA18943.hp1	a0001 a0003 a0012 a0001 a0003 a0012	a0001c0001 a0003c0004 a0012c0011 a0001c0001 a0003c0004 a0012c0011	a0001c0001t0001 a0003c0004t0001 a0012c0011t0005 a0001c0001t0001 a0003c0004t0001 a0012c0011t0005	a0001c0001t0001g0109 a0003c0004t0001g0146 a0012c0011t0005g0066 a0001c0001t0001g0109 a0003c0004t0001g0146 a0012c0011t0005g0066	3	316	0.0095	1216	c.49 others(1227): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGTT AGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCT GGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCC CTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCT CGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCC ATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGT TGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATG AGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGC CCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAAC TATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGT CAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTT GTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGC TCCCCCTTCCCGTCCACATGCCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1209): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGAC TCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGG CTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTT TTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGG CCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGC CGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCC TAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGG CTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAG TCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGC CCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTT AGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTC TGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGC CTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	316	0.0032	1216	c.49 others(1227): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCC CCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAG GTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTT CCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTT GCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATC GCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCG ACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCT GGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTG TCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGC CTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGG AGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTC GCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGT TAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTC TGGGGACTCATGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCC CTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCT CGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCC ATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGT TGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATG AGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGC CCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAAC TATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGT CAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTT GTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGC TCCCCCTTCCCGTCCACATGCCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1209): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGC CCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTT AGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTC TGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGC CTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGG GGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCAC ACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTG CCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGC TTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCA GGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCT GCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTC CACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCG GCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCT GGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTG TGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTC CACATGCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0169 a0001c0009t0001g0169	1	316	0.0032	1216	c.49 others(1227): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCC CTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGG TAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTC CCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTG CCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCG CCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGA CAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTG GCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGT CGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCCAGTTCCCCGC CTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGG AGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTC GCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGT TAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTC TGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGC CCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCC TCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGC CATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTG TTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAAT GAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGG CCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAA CTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGG TCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTT TGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAG CTCCCCCTTCCCGTCCACATGCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DYSF_chr2_71448561_71691763	71618390	T T	TGTGTGTG others(1209): Show TGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTG TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAG AGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTA GAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGTGGTAG AGGTGGGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGT GTGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGT GGAGTGTGTTTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGTGTGTGTGTG TGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAG GGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGT TTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGT GGAGTGTGTGTGTTTGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTG TGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGG TGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTG TGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTG TGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGT GGGGGGTGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGT GTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGT GTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTG GTAGAGGTGGAGTGTGTGTGTGTAGAGGTGTGGTGTGTGTGTGGTAGAGG TGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGG GTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGT GGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGG GGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAG TTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGC GTGTGTGTGGAGTAGAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0033 a0001c0010t0004g0033	1	192	0.0052	1216	c.441 others(1235): Show c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG AGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTG TGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGT GTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTG TGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAG AGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTG TGGTAGAGGTGGAGTGTGTTTGTGGGGTAGAGTTGTGTGTGGTAAAGGTG TGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTG TGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTG ATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG TGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTACAGTTGTGTGTGTGT GGTAGAGGTGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGT AGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAG GTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGTG TGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTG TGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTG GTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTG GAGTGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTG TGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTAGAGGTGTGGTGTGTGT GTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGG TAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAG GTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTG GTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTG TGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGA GGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71618390	T T	TGTGTGTG others(1209): Show TGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTG TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAG AGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTA GAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGTGGTAG AGGTGGGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGT GTGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGT GGAGTGTGTTTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGTGTGTGTGTG TGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAG GGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGT TTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGT GGAGTGTGTGTGTTTGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTG TGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGG TGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTG TGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTG TGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGT GGGGGGTGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGT GTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGT GTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTG GTAGAGGTGGAGTGTGTGTGTGTAGAGGTGTGGTGTGTGTGTGGTAGAGG TGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGG GTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGT GGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGG GGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAG TTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGC GTGTGTGTGGAGTAGAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03130.hp1 HG02818.hp1 HG03130.hp1	a0001 a0027 a0001 a0027	a0001c0010 a0027c0059 a0001c0010 a0027c0059	a0001c0010t0005 a0027c0059t0005 a0001c0010t0005 a0027c0059t0005	a0001c0010t0005g0091 a0027c0059t0005g0117 a0001c0010t0005g0091 a0027c0059t0005g0117	2	208	0.0096	1216	c.446 others(1235): Show c.4465-2144_4465-2143insTGTGGTAGAGGTGGCATGTGTGGTAG AGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTG TGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGT GTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTG TGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAG AGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTG TGGTAGAGGTGGAGTGTGTTTGTGGGGTAGAGTTGTGTGTGGTAAAGGTG TGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTG TGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTG ATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG TGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTACAGTTGTGTGTGTGT GGTAGAGGTGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGT AGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAG GTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGTG TGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTG TGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTG GTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTG GAGTGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTG TGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTAGAGGTGTGGTGTGTGT GTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGG TAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAG GTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTG GTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTG TGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGA GGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIF3B_chr7_2349827_2385745	2377621	C C	CCTGGGAA others(1209): Show CCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCGCTCCTGGGAAGCCGTGTTCTGTGAATGACCCTGGGTGT CAAGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGA ATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAT GCTGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCG AGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTT CTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCACGAGCGCTCC TGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAA GGAGCAGGCGCGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTG GGATGCTGTGTTGTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTGTGTGAATGA CCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCG TGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCT CTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGG AGCAGGCGCGAGCTCTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	384	0.0026	1216	c.215 others(1233): Show c.2154+583_2154+584insTGGAGGAAGGAGCAGGCGCGAGCGCTCC TGGGAAGCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCA GGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA AGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTGTGTGAAT GACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCACGAGCGCTCCTGGGATGCTGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAG GAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCG TGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCT CTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGG AGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGT GTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTGTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGG AATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCGCTCCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTG TTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCTCT TCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377759	T T	TGTGTTCT others(1209): Show TGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTG TGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCT CTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGG AGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGT GTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGG AATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTG TTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCT CCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAA CAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAA TCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCTCTCCTGGGAATCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	384	0.0026	1216	c.215 others(1233): Show c.2154+744_2154+745insTGCTGTGTTCTGTGAATGACCCTGGGTG TCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGATGCTGTGTTCTGTG AATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGA ATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGC GAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAG GAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCC TGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGT TCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTC CTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGC AGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTC ATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAA TGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAAT CCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGA GCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGA AGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTG GGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTC TGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCT GGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAG GCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCAT GGAGGAAGGAACAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATG ACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCT GTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGC TCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAG GAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGG TGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGA	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1209): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0005 a0005	a0005c0050 a0005c0050	a0005c0050t0001 a0005c0050t0001	a0005c0050t0001g0191 a0005c0050t0001g0191	1	388	0.0026	1216	c.-38 others(1235): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCCTGCTGCT TCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTT CCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGG GTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTC TGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1209): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0279 a0001c0002t0001g0279	1	388	0.0026	1216	c.-38 others(1235): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTT CCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGG GTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTC TGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1209): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp1 HG01884.hp1 others(7): Show HG00609.hp1 HG00639.hp1 HG01884.hp1 HG02280.hp1 HG02895.hp2 NA18970.hp2 NA19007.hp1 NA19056.hp1 NA19088.hp2 NA20300.hp1	a0001 a0003 a0013 a0001 a0003 a0013	a0001c0001 a0001c0002 a0001c0030 others(2): Show a0001c0001 a0001c0002 a0001c0030 a0003c0007 a0013c0013	a0001c0001t0002 a0001c0002t0001 a0001c0030t0002 others(2): Show a0001c0001t0002 a0001c0002t0001 a0001c0030t0002 a0003c0007t0002 a0013c0013t0006	a0001c0001t0002g0174 a0001c0001t0002g0180 a0001c0002t0001g0110 others(6): Show a0001c0001t0002g0174 a0001c0001t0002g0180 a0001c0002t0001g0110 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0030t0002g0272 a0003c0007t0002g0024 a0013c0013t0006g0156 a0013c0013t0006g0158	10	388	0.0258	1216	c.-38 others(1235): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCAC ATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGC AGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGA CAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGG CAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGA GTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGT GCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTC CAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGT CCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCT GCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCC CCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAG CCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1209): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01943.hp1 HG00140.hp2 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0237 a0001c0001t0004g0238 a0001c0001t0002g0237 a0001c0001t0004g0238	2	388	0.0052	1216	c.-38 others(1235): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCAC ATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGC AGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGA CAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGG CAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGA GTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGT GCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTC CAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGT CCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCT GCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCC CCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAG CCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1209): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGAC TCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGG CTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTT TTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGG CCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGC CGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCC TAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGG CTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAG TCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGC CCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTT AGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTC TGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGC CTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0026 a0026	a0026c0040 a0026c0040	a0026c0040t0001 a0026c0040t0001	a0026c0040t0001g0177 a0026c0040t0001g0177	1	388	0.0026	1216	c.-38 others(1235): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCCTGCTGC TTCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACAC CCAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCC ACACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCC CGGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGG GCTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTC TCGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGC TCTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCT GGGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGT TCCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGG GGTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCT CTGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGG GGGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTC ACATTTCTGGGGACTCATGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1209): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCCTCCCTACCCGGAC TCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGG CTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTT TTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGG CCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGC CGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCC TAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGG CTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAG TCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGC CCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTT AGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTC TGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGC CTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGG GGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCAC ACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTG CCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGC TTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCA GGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCT GCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTC CACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCG GCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCT GGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTG TGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTC CACATGCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0009 a0009	a0009c0057 a0009c0057	a0009c0057t0025 a0009c0057t0025	a0009c0057t0025g0249 a0009c0057t0025g0249	1	388	0.0026	1216	c.-38 others(1235): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCT TCCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACAC CCAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCC ACACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCC CGGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGG GCTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTC TCGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGC TCTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCT GGGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGT TCCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGG GGTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCT CTGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGG GGGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTC ACATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGG GCAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGG GACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCC GGCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCT GAGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAG GTGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTT TCCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGA GTCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGT CTGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTT CCCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCC AGCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1209): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGC CCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTT AGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTC TGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGC CTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGG GGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCAC ACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTG CCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGC TTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCA GGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCT GCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTC CACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCG GCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCT GGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTG TGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTC CACATGCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0252 a0001c0001t0004g0252	1	388	0.0026	1216	c.-38 others(1235): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCT TCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCCAGT TCCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGG GGTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCT CTGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGG GGGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTC ACATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGG GCAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGG GACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCC GGCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCT GAGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAG GTGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTT TCCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGA GTCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGT CTGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTT CCCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCC AGCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
MRTFA_chr22_40405289_40641719	40537435	G G	GGGCCAGC others(1209): Show GGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCC CCCCTGCCCGGCCGGCCTCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGGGGGGT CGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC GGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTC GGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGC CGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCC GTGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCACGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGG GGGGTCAGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCTCCGCCC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	256	0.0039	1216	c.241 others(1235): Show c.241+14670_241+14671insGGGCGGAGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCC CTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGTGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCA GGCGGGGGACTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCC ACACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCGA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGAGGCCGGCCGGGCAGGGGGGCTGACCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MUSK_chr9_110663791_110811558	110690417	A A	AATATAAA others(1209): Show AATATAAATATATATTTAAATATAAGTATATATAAATATATATATTTAAA TATAAGTATATATAAATATATATATTTAAATATAAGTATGTATATAAATA TATATATTTAAATATAAGTATGTATATAAATATATATATTTCAATATAAG TATGTATATAAATATATATATTTCAATATAAGTATATAAAAATATATATA TTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATGTA TAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTC AATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAATA TATATTTCAATATAAGTATATATAAAAATATATATATTTAAATATAAGTA TATATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATA TTTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATA TAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATATTTA AATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATATAAA TATATATATTTAAATATAAGTATATATATAAAAATATATATATTTAAATA TAAGTATATATATAAAAATATATATATTTAAATATAAGTATATATATAAA AATATATATATTTAAATATAAGTATATATATAAAAATATATATATTTAAA TATAAGTATATATATAAAAATATATATATTTAAATATAAGTATACATATA AATATATATATTTAAATATAAGTATACATATAAATATATATATTTAAATA TAAGTATACATATAAATATATATATTTATATATAAGTATACATATAAATA TATATATTTATATATAAGTATATATATAAATATATATTTATATATAAGTA TATATATATTTATATATAAGTATATATATAAATATATATATTTATATATA AGTATATATATATTTAAATATAAGTATATATAAATATATATATTTATATA TAAGTGTATATATATAAATATATATATTTATATATAAGTGTATATATATA AATATATATATTTATATATAAGTATATATAAATATATATATTTATATATA AGTATATATAAATATATATATTTAAATATAAGTATATATAAATATATATA TTTAAATATAAGTATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03195.hp1 HG03130.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0169 a0001c0001t0015g0171 a0001c0001t0015g0169 a0001c0001t0015g0171	2	326	0.0061	1216	c.358 others(1233): Show c.358+3165_358+3166insAAATATAAGTATATATAAATATATATAT TTAAATATAAGTATATATAAATATATATATTTAAATATAAGTATGTATAT AAATATATATATTTAAATATAAGTATGTATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATATAAAAATAT ATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGT ATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATAT ATTTCAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTAT AAATATATATTTCAATATAAGTATATATAAAAATATATATATTTAAATAT AAGTATATATAAAAATATATATATTTAAATATAAGTATATATAAAAATAT ATATATTTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGT ATATATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATAT ATTTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATAT ATAAATATATATATTTAAATATAAGTATATATATAAAAATATATATATTT AAATATAAGTATATATATAAAAATATATATATTTAAATATAAGTATATAT ATAAAAATATATATATTTAAATATAAGTATATATATAAAAATATATATAT TTAAATATAAGTATATATATAAAAATATATATATTTAAATATAAGTATAC ATATAAATATATATATTTAAATATAAGTATACATATAAATATATATATTT AAATATAAGTATACATATAAATATATATATTTATATATAAGTATACATAT AAATATATATATTTATATATAAGTATATATATAAATATATATTTATATAT AAGTATATATATATTTATATATAAGTATATATATAAATATATATATTTAT ATATAAGTATATATATATTTAAATATAAGTATATATAAATATATATATTT ATATATAAGTGTATATATATAAATATATATATTTATATATAAGTGTATAT ATATAAATATATATATTTATATATAAGTATATATAAATATATATATTTAT ATATAAGTATATATAAATATATATATTTAAATATAAGTATATATAAATAT ATATATTTAAATATAAGTATATATATAAATATATATTT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCBP3_chr21_45638725_45947450	45746360	T T	TTGTCAGC others(1209): Show TTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGTTGTC AGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCAT CGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGTTGTCAGCATCGCCG TGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCA GTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCA TTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGAC GTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGC GCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACA CGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTG GTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGTTGTC AGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGTTGTGTCAGC ATCGCTGTCAGTCCATTGACGTAGCGCCACACGGTGTTGTCAGCATCACT GTGTCAGTCCATTGACGTAGCGCACACGGTGTTGTCAGCATCGCCGTGTC AGTCCATTGACGTAGCGCACACGGTGTTGTCAGCATCGCCGTGTCAGTCC ATTGACGTAGCGCACACGGTGTTGTCAGCATCGCCGTGTCAGTCCATTGA CGTAGCGCACACGGTGTTGTCAGCATCGCCGTGTCAGTCCATTGACGTAG CGCACACGGTGTTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCAC ACGGTGTTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGT GTTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGTTGT CAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCA TCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCC GTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTC AGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCC ATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGA CGTAGCGCACACGGTGG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0100	1	292	0.0034	1216	c.-16 others(1235): Show c.-161-9013_-161-9012insTTGTCAGCATCGCCGTGTCAGTCCAT TGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACG TAGCGCACACGGTGTTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCG CACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACAC GGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGG TGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCA GCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATC GCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGT GTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAG TCCATTGACGTAGCGCACACGGTGTTGTCAGCATCGCCGTGTCAGTCCAT TGACGTAGCGCACACGGTGTTGTGTCAGCATCGCTGTCAGTCCATTGACG TAGCGCCACACGGTGTTGTCAGCATCACTGTGTCAGTCCATTGACGTAGC GCACACGGTGTTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACA CGGTGTTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTG TTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGTTGTC AGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGTTGTCAGCAT CGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGTTGTCAGCATCGCCG TGTCAGTCCATTGACGTAGCGCACACGGTGTTGTCAGCATCGCCGTGTCA GTCCATTGACGTAGCGCACACGGTGTTGTCAGCATCGCCGTGTCAGTCCA TTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGAC GTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGC GCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACA CGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTG GTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTC AGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC6A12_chr12_185081_219157	197206	C C	CATCCATC others(1209): Show CATCCATCCATCCATCTATCCATCCATCTACCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATC CATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCTATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATC TACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCTACC CATCCATCCATCCATCCATCCATCCACCCATCCATCCATCCATCCATCCA TCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATC CATCCATCCATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCTATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATC CATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCTATCCATCTATCCATCCATCCATCCATC CATCTATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCCATCCATCTAACCATCCATCCATCCATCCATCCATCCATCCATC TATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCA TCCATCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATCTATC CATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCA TCCATCTATCCATCCATCTATCCATCCATCCATCCATCTATCCATCCATC TATCCATCCATCTATCCATCCATCCATCTACCCATCCATCCATCCATCCA TCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATTCATC CATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCA TCCATCCATCTATCCAGTGTTGGTCCATCTACCATCCATCATCCTCCCCC TCCTCTTTCTCATGGTA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19063.hp2 NA18971.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	2	420	0.0048	1216	c.107 others(1233): Show c.1075+170_1075+171insTACCATGAGAAAGAGGAGGGGGAGGATG ATGGATGGTAGATGGACCAACACTGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGAATGGAT GGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGGAT AGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATAGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGAT GGATAGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATAGATGGATGGAT GGATGGATGGATGGATGGATGGTTAGATGGATGGATGGATGGATGGATGG ATGGATGGATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT GGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGAT GGATGAATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGGTGGATGGATGGATGGATGGATGGATGGGTAGATGGAT GGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGAT GGATAGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGAT GGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGGTAGATGGATGGATAGATGGATGGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A3_chr5_1387794_1450440	1414469	G G	GCTGGGTG others(1209): Show GCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGG GCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGC AGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAG GCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGG GGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGG GCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGA AGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCACTGGGTG GGGGGCCTGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAG GGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGG GAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGG TGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCTGG AGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAA GGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTG GGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCG GGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGG CAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCAC TGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGC CGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAG GGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGC ACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGG GCCTGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGC AGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAG GCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGG GGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGG GCAGGGCGGGGAAGGCA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0084 a0001c0002t0003g0084	1	373	0.0027	1216	c.115 others(1233): Show c.1156+221_1156+222insTGCCTTCCCCGCCCTGCCCCTCCCGGCC CCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTG CCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCC TGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGG CCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCAGGCCCCCCACCCAG TGCCTTCCCTTCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGC CCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCA GGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCC AGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCT TCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTC CAGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCAC CCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCC CTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCC TCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCC ACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTT CCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCC CCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCC CCACCCAGTGCCTTCCCTTCCCTGCCCCTCCAGGCCCCCCACCCAGTGCC TTCCCTTCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTG CCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCC CCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCG CCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTGCCC TGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCCGG CCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAG TGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
TMPRSS9_chr19_2355265_2431261	2418315	C C	CTCCTTCC others(1209): Show CTCCTTCCCTTTCCTTCTCTCCCTCCCTTTCCTTTCCTCCCTCCCTTCCC TTCCCTCCCTCCCTTTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCCCT TTCCTTCCCTCCCTGGCCTTTCCTTCCATTCCTTCCCTCCCTCCCTTCCC TTCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTCCTTCCATTCCTTCC CTCCCTCCCTTTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCCCTCCCT TTCCTTCCCTCCCTCCCTCCCTTTCCTTCCCTCTCCTCCCTCCCTTCCCT TCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTCCTTCCATTCCTTCCC TCCCTCCCTTTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCCGTTTCCT TCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTCCCTTTCCTTCCCTCTCCT CCCTCCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTCCT TCCATTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTTTCCTTCCCT CCCTCCGTTTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCCCTCCCTTT CCTTCCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCGTTTCCTTCCCTC CCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTGG CCTTTCCTTCCATTCCTTCCCTCCCTCCCTTTCCTTCCATTCCTTCCCTC CCTCCCTTTCCTTCCCTCCCTGGCCTTTCCTTCCATTCCTTCCCTCCCTC CCTTTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCCGTTTCCTTCCCTC CCTCCCTTTCCTTCCCTCCCTCCCTCCCTTTCCTTCCCTCTCCTCCCTCC CTTCCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTCCTTCCATT CCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCC CTTTCCTTCCCTCCCTGGCCTTTCCTTCCATTCCTTCCCTCCCTCCCTTC CCTTCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTCCTTCCATTCCTT CCCTCCCTCCCTTTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCCCTTT CCTTCCCTCCCTGGCCTTTCCTTCCATTCCTTCCCTCCCTCCCTTTCCTT CCCTCCCTCCGTTTCCT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0002 a0005c0010t0002	a0005c0010t0002g0082 a0005c0010t0002g0082	1	114	0.0088	1216	c.215 others(1233): Show c.2154+180_2154+181insTTCCCTTTCCTTCTCTCCCTCCCTTTCC TTTCCTCCCTCCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCGT TTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTCCTTCCATTCC TTCCCTCCCTCCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTGGCC TTTCCTTCCATTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCGTTTCC TTCCCTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTCCCTTTCCTTCCCT CTCCTCCCTCCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCT TTCCTTCCATTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCGTTTCCT TCCCTCCCTCCGTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTC CCTTTCCTTCCCTCTCCTCCCTCCCTTCCCTTCCCTCCCTCCCTTTCCTT CCCTCCCTGGCCTTTCCTTCCATTCCTTCCCTCCCTCCCTTTCCTTCCCT CCCTCCCTTTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCCGTTTCCTT CCCTCCCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCTC CCTCCGTTTCCTTCCCTCCCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCC CTTTCCTTCCCTCCCTGGCCTTTCCTTCCATTCCTTCCCTCCCTCCCTTT CCTTCCATTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTCCTT CCATTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCGTTTCCTTCCCTC CCTCCGTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTCCCTTTC CTTCCCTCTCCTCCCTCCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCTCC CTGGCCTTTCCTTCCATTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCC GTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTCCTTCCATT CCTTCCCTCCCTCCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTGG CCTTTCCTTCCATTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCGTTT CCTTCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTCCTTCCATTCCTT CCCTCCCTCCCTTTCCTTCCCTCCCTCCGTTTCCTTCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGAP19_chr10_97217179_97297637	97251478	G G	GAGGGGAA others(1210): Show GAGGGGAAGGGGAGGGGAAGGAGGGAAGGGGAAAGGAAGGAAGGGGGAGG GGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGG GAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGAAAAGGGAAGGAGAAA AGGAAGGGAAGGGGAAGGGAAGGGGAAGATGAAGGGAAAGGGAAAAGGAA GGAGAAGAGGAGGGGAAGGGGAGGGGAAGGGAAGGGGAAGGGGAAAGAAA GGGAGAGGGAGGGGGCAGGGAAGGGAAGGGGAATGGAAGAGGAAGGAAGG GGAAGGAAGGGGAATGGAAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGGAGGGGGAGGGGAAGGGGGAGGGG AAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAA GGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGG GGAAAGGAAGGGGAAGGGGGAGGGAAAGGAAAGGGGAATGGAAGGGAAGG GAAAGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGGAGGAGAAGGG GAAGGGGAAGGGAAAAGGAAGGAGAAGAGGAAGGGAAGGGGAGGGGAAGG CAAGGGGAAAGGAAGGAAGGGGGAGGGGAAGGGAAGGGGAGGGGAAGGGG AAGGGAAGGGGAGGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAGGG AAGGGGAAGGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGGGGAAGGG GAGGGGAAGGGGAAAGGAAGGGGGGGAAGGGAAGGTGGAAGGAAGGGGAA GGGGAATGGAAAGGAAGGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGGGA GGGGAAGGGGAAAGGGAAAGGAAGGGGAAGGGAAAGGAAGGGGGAGGGAA AGGAAAGGGGAAGGGAAGGGAAGGGGAAGGGAAGAGAAAGGAAGGGGAAG GGAAGGAGAAGGGGGGGAAGGGGAAGGGAAAAGGAGAAGAAGAGGGGAAG GGGAGGGGAAGGGAAGGGGAAAGGAAGGAAGGGGGAGGGGAAAGGAAGGA AGGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGA AAGGGAAGGGGAAGATGAAGGGGAAGGGAAAAGGAAGGAGAAGAGGAGGG GAAGGGGAGGGGAAAGGA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0098 a0001c0003t0003g0098	1	242	0.0041	1217	c.927 others(1234): Show c.927+4839_927+4840insTCCTTTCCCCTCCCCTTCCCCTCCTCTT CTCCTTCCTTTTCCCTTCCCCTTCATCTTCCCCTTCCCTTTCCCTTCCCC TCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTTCCTTCCTTT CCCCTCCCCCTTCCTTCCTTTCCCCTTCCCTTCCCCTCCCCTTCCCCTCT TCTTCTCCTTTTCCCTTCCCCTTCCCCCCCTTCTCCTTCCCTTCCCCTTC CTTTCTCTTCCCTTCCCCTTCCCTTCCCTTCCCCTTTCCTTTCCCTCCCC CTTCCTTTCCCTTCCCCTTCCTTTCCCTTTCCCCTTCCCCTCCCCCTTCC CTTTCCCTTCCCTTCCCCTTCCCCTTCCTTTCCATTCCCCTTCCCCTTCC TTCCACCTTCCCTTCCCCCCCTTCCTTTCCCCTTCCCCTCCCCTTCCCCT CCCCTTCCCCTCCTCTTCTCCTTCCTTTTCCCTTCCCCTTCCCTTTCCCC TTCCCTTCCCCTTCCCTTCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCC TCCCCTTCCCTTCCCCTCCCCCTTCCTTCCTTTCCCCTTGCCTTCCCCTC CCCTTCCCTTCCTCTTCTCCTTCCTTTTCCCTTCCCCTTCCCCTTCTCCT CCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCTTTCCCTTCCCTTC CATTCCCCTTTCCTTTCCCTCCCCCTTCCCCTTCCTTTCCCCTTCCCCTC CCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCC CCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCC TTCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCCTT CCCTTCCCCTTCCCCTTCCCTTTCCATTCCCCTTCCTTCCCCTTCCTTCC TCTTCCATTCCCCTTCCCTTCCCTGCCCCCTCCCTCTCCCTTTCTTTCCC CTTCCCCTTCCCTTCCCCTCCCCTTCCCCTCCTCTTCTCCTTCCTTTTCC CTTTCCCTTCATCTTCCCCTTCCCTTCCCCTTCCCTTCCTTTTCTCCTTC CCTTTTCCCTTCCCTTCCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTT CCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTCCCCCTT CCTTCCTTTCCCCTTCCCTCCTTCCCCTCCCCTTCCCCT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
CCDC183_chr9_136791338_136812741	136802875	T T	TGGGGGCC others(1210): Show TGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC TGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0253	1	398	0.0025	1217	c.666 others(1232): Show c.666+224_666+225insCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAG CCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCG GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803145	G G	GCCGGGGG others(1210): Show GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGG GGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCG GGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	398	0.0025	1217	c.666 others(1232): Show c.666+360_666+361insCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGG GGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCTGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CTGGGGCCCCCCAGGGCGGGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803215	G G	GGGGGCCC others(1210): Show GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCT CAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	398	0.0025	1217	c.666 others(1232): Show c.666+495_666+496insCGGGGGCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPM_chr22_41933737_41952152	41939797	A A	AAAAAAGA others(1210): Show AAAAAAGAAAGAAAAAAGAAAGAAAAAAGAAAGAAGAAAAGAAAGAAAAA AGAAAGAAAGAAAGAAAAAGAAGAAGAATAAAGAAAGAAAAAGAAAGAAA GAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAA GAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAAGAAAGAAAGAAAG AAAGAAAAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAA GAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAG AGAAGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAAA GAAAGAAAGAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAAAGAAAGAAAGAAAGAGATAAGAAAGAGAAAGAAAG AGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAGAGAAAGA AAGAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGA AAGAAAGAGAAAGAAGAGAAAGAAAGAAAGAAAGAAAAAGAAGAAAGAAA GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAAGAAAGAAAGAA AGAAAAAGAAAGAAAAGAAAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAG AGAAAGAAAGAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAAAG AGAAAGAAAGAGAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAAAGAAAGA AAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAGAAGAGGAAAGA AGAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAA AAAGAAAGAAAGAAGAAAGAAAGAAAGAAAAAGAAAGAAAGGAAAGAAAG AAAGAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGA AAAGAAAGAAAGAAAGAAAAGAAAAGAAAGAAAGAAAGAAAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAA GAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAAGAAAGAAAGAAGAAAGA AAGAAAGAAAAAGAAAGAAAAAGAAAGAAGAAAGAAAGAAAAAGAAAGAA AAAGAAAGAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0188 a0001c0002t0004g0188	1	258	0.0039	1217	c.403 others(1232): Show c.403-602_403-601insCTTTCTTTTTCTTTCTTTTTCTTTCTTTTT CTTTCTTTCTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTCTTT CTTTCTTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTT CTTTCTTTCTTTTCTTTCTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTT CTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCTTTTCTTTCTTTTTC TTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTCTTTCTTTCTTTCCTT TCTTTCTTTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTTTCTTTCTTTCT TTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTCTTTCCTCTTC TCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTC TTTCTTTCTTTCTCTTTCTTTCTCTTCTCTTTCTTTCTCTTTTCTTTCTC TTTCTTTCTTTCTCTTTCTTTCTTTCTTCTTTCTTTCTCTTTCTTTCTTT CTTTCTTCTTTCTTTCTCTTTCTTTTCTTTCTTTTTCTTTCTTTCTTTCT TTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTCT TTTTCTTTCTTTCTTTCTTTCTCTTCTTTCTCTTTCTTTCTTTCTTTCTT TCTTTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTCTTTCTTTCTCTTCT TTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCT TTCTTATCTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTTCTTCTTTCTTTCTTTTTCTTTCTT TCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTTTCTTCTCTTTCTTTCTTT CTTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTT TCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTTCTTTCTTTCTTT CTTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTT TCTTTCTTTATTCTTCTTCTTTTTCTTTCTTTCTTTCTTTTTTCTTTCTT TTCTTCTTTCTTTTTTCTTTCTTTTTTCTTTCTTTTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CENPM_chr22_41933737_41952152	41939840	A A	AAAAGAAG others(1210): Show AAAAGAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAG AAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAG AAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAAAG AAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAG AAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAA AGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAG AAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAA AGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAGAA AGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAA AGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAAAGAAAGAAAG AAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAA AGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAA AGAAAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAA AGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAG AAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAA AGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAG AAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAG AAAGAAAGAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	258	0.0039	1217	c.403 others(1232): Show c.403-645_403-644insCTTTCTTTTTCTTTCTTTCTTTCTTTTTCT TTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTT CTTTCTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT TTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCT TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTT TTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTTTCTTTCTTTCTTTCT TTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTT TTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTT TTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTT CTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCT TTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTT CTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCT TTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCT TTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTT TTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTCTTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CENPM_chr22_41933737_41952152	41939840	A A	AAAAGAAG others(1210): Show AAAAGAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAA AGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAG AAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAG AAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAA AGAAAGAAAGAAAAAGAAAGAAAAGAAAGAAAAAGAAAGAAAGAAAGAAA AAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAGAA AGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGA AAAGAAAGAAAAAGAAAGAAAGAAGAAAGAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAAAGAAAAGAAAGAAAAGAAAGAAAGAAAGAAAAGAAA GAAAGAAAGAAAGAAAAAGAAAGAAAGAAAAGAAAGAGAAAGAAAAAGAA AGAAAAAGAAAGAAAAAGAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAA GAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAA GAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAA GAAAAAGAAAGAAAAAGAAAGAAAAGAAAGAAAAGAAAGAAAAAGAAAAA GAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGA AAGAAAGAAAGAAAGAAAGAAAAGAAGAAAGAAAGAAAGAAAGAAAAAGA AAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGA AAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAA AAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAG AAAGAAAGAAAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	258	0.0039	1217	c.403 others(1232): Show c.403-645_403-644insCTTTCTTTTTCTTTCTTTCTTTCTTTTTCT TTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTTTCTTTCTTTC TTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTT TCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTC TTTCTTTCTTTCTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTC TTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTTTC TTTCTTTTCTTTCTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTC TTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTT TCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTT TCTTTTTCTTTCTTTTTCTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTT CTCTTTCTTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTCTTT CTTTCTTTCTTTTCTTTCTTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTCTTTCTTCTTTCTTTCTTTTTCTTTCTTTTCTTTCTTTCTT TCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTCTTTC TTTCTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTC TTTCTTTTTCTTTCTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTT CTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCT TTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTCTTTCTTTTTCTTTCTTT TTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCT TTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCT TTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTT TTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTCTTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CLPTM1L_chr5_1312752_1350099	1333123	C C	CAGATAAG others(1210): Show CAGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGAGAC TACTGTATACACACGGGATGAGGATGAGGGACTATTGTATACACACCAGA TGAGGATAAGGGGGGACTACTGTATACACACCAGATGAGGATAAGGGGGG ACTACTGTATACACACACGGGATGAGGATAAGGGGGGACTACTGTATACA CATTGGATGAGGATAAGGGGGGACTATTGTATACACACCAGATGAGGATA AGGGGGGACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGT ATACACACCGGATGAGGATAAGGGGAGACTACTGTATACACACGGGATGA GGATGAGGGACTATTGTATACACACCAGATGATGATAAGGGGGACTACTG TATACACATTGGATGAGGATAAGGGGGGACTACTGTATACACACCAGATG AGGATAAGGGGGGACTACTGTATACACACCAGATGAGGATAAGGGGGGAC TACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTAGACACACG GGATGAGGATAAGGGGGGACTACTGTAGACACACGGGATGAGGATAAGGG GGGACTACTGTATACACACGGGATGAGGATAAGGGGGGACTACTGTATAC ACACCGGATGAGGATAAGGGGGGACTACTGTAGACACACGGGATGAGGAT AAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTG TATACACATTGGATGAGGATAAGGGGGGACTACTGTATACACACCAGATG AGGATAAGGGGGGACTACTGTATACACACCAGATGAGGATAAGGGGGGAC TACTGTACACACACGGGATGAGGATAAGGGGGGACTACTGTATACACACC GGATGAGGATAAGGGGGACTACTGTATACACATTGGATGAGGATAAGGGG GGACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATACA CACCGGATGAGGATAAGGGGGACTACTGTATACACATTGGATGAGGATAA GGGGCGACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTA GACACACCGGATGAGGATAAGGGGGACTACTGTATACACACCGGATGAGG ATAAGGGGCGACTACTGTATACACACCAGATGAGGATAAGGGGGGACTAC TGTATACACACCGGATGA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	370	0.0027	1217	c.891 others(1234): Show c.891+1165_891+1166insTCATCCGGTGTGTATACAGTAGTCCCCC CTTATCCTCATCTGGTGTGTATACAGTAGTCGCCCCTTATCCTCATCCGG TGTGTATACAGTAGTCCCCCTTATCCTCATCCGGTGTGTCTACAGTAGTC CCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCGCCCCTTATCCTCAT CCAATGTGTATACAGTAGTCCCCCTTATCCTCATCCGGTGTGTATACAGT AGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATCC TCATCCAATGTGTATACAGTAGTCCCCCTTATCCTCATCCGGTGTGTATA CAGTAGTCCCCCCTTATCCTCATCCCGTGTGTGTACAGTAGTCCCCCCTT ATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGT GTATACAGTAGTCCCCCCTTATCCTCATCCAATGTGTATACAGTAGTCCC CCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCC CGTGTGTCTACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTA GTCCCCCCTTATCCTCATCCCGTGTGTATACAGTAGTCCCCCCTTATCCT CATCCCGTGTGTCTACAGTAGTCCCCCCTTATCCTCATCCCGTGTGTCTA CAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTT ATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGT GTATACAGTAGTCCCCCCTTATCCTCATCCAATGTGTATACAGTAGTCCC CCTTATCATCATCTGGTGTGTATACAATAGTCCCTCATCCTCATCCCGTG TGTATACAGTAGTCTCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCC CCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATC TGGTGTGTATACAATAGTCCCCCCTTATCCTCATCCAATGTGTATACAGT AGTCCCCCCTTATCCTCATCCCGTGTGTGTATACAGTAGTCCCCCCTTAT CCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGT ATACAATAGTCCCTCATCCTCATCCCGTGTGTATACAGTAGTCTCCCCTT ATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCT	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CRPPA_chr7_16082525_16426538	16197555	G G	GAAACTCC others(1210): Show GAAACTCCTGGGCTCACGCAATCCTTCCTGCCTCTGCCTCTGCCTCTGAA AATGCTAAGCAAAAATTGGTAAATTCTTTCATCTGAATTTTATATAATAT AAAGTAGTAAGAACTGTAGAACTTCCAACACATAATGACTCCATCCAAAT CTCTGCACTAGAGGCAATGTGGGGAAAAGCAAGAGAGATCAGATTGTTAC TGTGTCTGTGTAGAAAGAAGTAGACATAGGAGACTCCATTTTGTTATGTA CTAAGAAAAATTCTTCTGCCTTGAGATTCTGTTAATCTATGACCTTACCC CCAACCCCGTGCTCTCTGAAATGTGTGCTGTGTCAACTCAGAGTTAAATG GATTAAGGGCGGTGCAGGATGTGCTTTGTTAAACAGATGCTTGAAGGCAG CATGCTCCTTAAGAGTCATCACCACTCCCTAATCTCAAGTACCCAGGGAC ACAAAAACTGCGGAAGGCCGCAGGGACCTCTGCCTAGGAAAGCCAGGTAT TGTCCAAGGTTTCTCCCCATGTGATAGTCTGAAATATGGCCTCGTGGGAA GGGAAAGACCTGACCGTCCCCCAGCCCGACACCCGTAAAGGGTCTGTGCT GAGGAGGATTAGTAAAAGAGGAAGGAATGCCTCTTGCAGTTGAGACAAGA GGAAGGCATCTGTCTCCTGCCTGTCCCTGGGCAATGGAATGTCTCGGTAT AAAACCCGATTGTATGCTCCATCTACTGAGATAGGGAAAAACCGCCTTAG GGCTGGAGGTGGGACCTGCGGGCAGCAATACTGCTTTGTAAAGCACTGAG ATGTTTATATGTATGCATATCTAAAAGCACAGCACTTAATCCTTTACATT GTCTATGATGCCAAGACCTTTGTTCACGTGTTTGTCTGCTGACCCTCTCC CCACAATTGTCTTGTGACCCTGACACATCCCCCTCTTTGAGAAACACCCA CAGATGATCAATAAATACTAAGGGAACTCAGAGGCTGGCGGGATCCTCCA TATGCTGAACGCTGGTTCCCCGGGTCCCCTTATTTCTTTCTCTATACTTT GTCTCTGTGTCTTTTTCTTTTCCAAATCTCTCGTCCCACCTTACGAGAAA CACCCACAGGTGTGTAGGGGCAACCCACCCCTACAGGATGACCGGTATGC ACTCCCATACTTGCGCAGCATTTTTTTTTTTTAAGAAACGGTTTCATCAT GTTGCCCTAGCTAATCTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0131 a0001c0001t0070g0131	1	290	0.0035	1217	c.125 others(1238): Show c.1251+17294_1251+18510dupAAGATTAGCTAGGGCAACATGATG AAACCGTTTCTTAAAAAAAAAAAATGCTGCGCAAGTATGGGAGTGCATAC CGGTCATCCTGTAGGGGTGGGTTGCCCCTACACACCTGTGGGTGTTTCTC GTAAGGTGGGACGAGAGATTTGGAAAAGAAAAAGACACAGAGACAAAGTA TAGAGAAAGAAATAAGGGGACCCGGGGAACCAGCGTTCAGCATATGGAGG ATCCCGCCAGCCTCTGAGTTCCCTTAGTATTTATTGATCATCTGTGGGTG TTTCTCAAAGAGGGGGATGTGTCAGGGTCACAAGACAATTGTGGGGAGAG GGTCAGCAGACAAACACGTGAACAAAGGTCTTGGCATCATAGACAATGTA AAGGATTAAGTGCTGTGCTTTTAGATATGCATACATATAAACATCTCAGT GCTTTACAAAGCAGTATTGCTGCCCGCAGGTCCCACCTCCAGCCCTAAGG CGGTTTTTCCCTATCTCAGTAGATGGAGCATACAATCGGGTTTTATACCG AGACATTCCATTGCCCAGGGACAGGCAGGAGACAGATGCCTTCCTCTTGT CTCAACTGCAAGAGGCATTCCTTCCTCTTTTACTAATCCTCCTCAGCACA GACCCTTTACGGGTGTCGGGCTGGGGGACGGTCAGGTCTTTCCCTTCCCA CGAGGCCATATTTCAGACTATCACATGGGGAGAAACCTTGGACAATACCT GGCTTTCCTAGGCAGAGGTCCCTGCGGCCTTCCGCAGTTTTTGTGTCCCT GGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCT TCAAGCATCTGTTTAACAAAGCACATCCTGCACCGCCCTTAATCCATTTA ACTCTGAGTTGACACAGCACACATTTCAGAGAGCACGGGGTTGGGGGTAA GGTCATAGATTAACAGAATCTCAAGGCAGAAGAATTTTTCTTAGTACATA ACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACA ATCTGATCTCTCTTGCTTTTCCCCACATTGCCTCTAGTGCAGAGATTTGG ATGGAGTCATTATGTGTTGGAAGTTCTACAGTTCTTACTACTTTATATTA TATAAAATTCAGATGAAAGAATTTACCAATTTTTGCTTAGCATTTTCAGA GGCAGAGGCAGAGGCAGGAAGGATTGCGTGAGCCCAGGAGTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	9/9			chr7	TogoVar
CYLC1_chrX_83856146_83891698	83878183	G G	GTATATAA others(1210): Show GTATATAAATATATATAAATATATATAAATATATATAAAAATATATATAT AAATATATATAAATATATATAAAAATATATATAAATATATATAATATATA TATAAAAATATATATTATATATATTATATATATAAATATATATATAAAAA TATATATTATATATATTATATATATAAATATATATAAAAATATATATTAT ATATATTATATATATAAATATATATATAAAAATATATATTATATATATTA TATATAAATATATATATAAAAATATATATTATATATATTATATATATAAA TATATATATAAAAATATATATTATATATATTATATATATAAATATATATA TAAAAATATATATTATATATATTATATATATAAATATATATATAAAAATA TATATTATATATATTATATATATAAATATATATATAAATATATATTATAT ATATTATATATAATATATATATAAAATATATATAAATATATATAAATATA TATAAAATATATAAATATATATAAAAATATATATAAAATATATAAATATA TATAAAAATATATATATAAATATATATATAAAAATATATATAAAAATATG TATATAATATATATATGAAAATATATATAAAAATATATATATAAATATAT ATCAATATATATATAAAATATATATAAATATATATATAAAATATATATAT AAAATATATATAAATACATATATAAATATATATATAAATATATATAAATA CATATATAAATATATATATAAATATATATAAATATATATATATAAAATAT ATATAAAATATATATATAAAATATATATAAAAATATATATATAAAATATA TATAAAAATATATATATAAAATATATATAAAAATATATATATAAAATATA TATAAAAATATATATATAAAATATATATAAAAATATATATATAAAATATA TATAAAAATATATATAAATATATATAAATATATAAAAACATATATAAATA TATAAATATATATAAATATATAAATATATATATAAATATATAAATATATA TAAATATATATAAATATATAAATATATATAAATATATATAAATATATATA TAAATATATAAATATATATATAAATATATATAAATATATATAAATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	208	0.0048	1217	c.192 others(1236): Show c.1923+3568_1923+3569insAATATATATAAATATATATAAAAATA TATATATAAATATATATAAATATATATAAAAATATATATAAATATATATA ATATATATATAAAAATATATATTATATATATTATATATATAAATATATAT ATAAAAATATATATTATATATATTATATATATAAATATATATAAAAATAT ATATTATATATATTATATATATAAATATATATATAAAAATATATATTATA TATATTATATATAAATATATATATAAAAATATATATTATATATATTATAT ATATAAATATATATATAAAAATATATATTATATATATTATATATATAAAT ATATATATAAAAATATATATTATATATATTATATATATAAATATATATAT AAAAATATATATTATATATATTATATATATAAATATATATATAAATATAT ATTATATATATTATATATAATATATATATAAAATATATATAAATATATAT AAATATATATAAAATATATAAATATATATAAAAATATATATAAAATATAT AAATATATATAAAAATATATATATAAATATATATATAAAAATATATATAA AAATATGTATATAATATATATATGAAAATATATATAAAAATATATATATA AATATATATCAATATATATATAAAATATATATAAATATATATATAAAATA TATATATAAAATATATATAAATACATATATAAATATATATATAAATATAT ATAAATACATATATAAATATATATATAAATATATATAAATATATATATAT AAAATATATATAAAATATATATATAAAATATATATAAAAATATATATATA AAATATATATAAAAATATATATATAAAATATATATAAAAATATATATATA AAATATATATAAAAATATATATATAAAATATATATAAAAATATATATATA AAATATATATAAAAATATATATAAATATATATAAATATATAAAAACATAT ATAAATATATAAATATATATAAATATATAAATATATATATAAATATATAA ATATATATAAATATATATAAATATATAAATATATATAAATATATATAAAT ATATATATAAATATATAAATATATATATAAATATATATAAATATATATAA ATATATATAAATATATATAAATATATATATAAATATATATAAATATATAT AAATATATATAAATATATATAAATATATATAAATATATATA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIP2C_chr10_269201_694668	516657	G G	GGGGTAAG others(1210): Show GGGGTAAGGTGGACAGTGGGGGGGACGGGGTAGGGTGGGGGGGGACAGGG GGTAGGGTGGGGGGGGGGACAGGGGTAGGGTGGGGGGGGGGGACAGGGGT AGGGTGGGGAGGGGGGGGGGACAGGGGGTAGGGTGGGAGGGGGGGGACAG GGGTAGGGGTGGGAGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACAGGG GGTAGGGGTGGGGGGGGGGACGGGGTAGGGTGGGGGGGGGGACGGGGTAG GGGTGGGAGGGGACAGGGGGTAGGGTGGGAGGGGGGGGACAGGGGGGTAG GGTGGGAGGGGGGGGACAGGGGGTAGGGTGGGAGGGGGGGACAGGGGTAG GGTGGGAGGGGGGGGACAGGGGTAGGGTGGGGGGGGGGGACAGGGGTAGG GTGGGAGGGGGGGGACAGGGGTAGGGTGGGAGGGGGGGACAGGGGTAGGG TGGGAGGGGGGGGAAGGGGGGGGGGGGGACAGGGGGTAGGGTGGGGGGGG GACAGGGGGTAGGGTGGGAGGGGGGACAGGGGTAGGGTGGGAGGGGGGGA CAGGGGGTAGGGTGGGAGGGGGGGACAGGGGGTAGGGTGGGAGGGGGGGG ACAGGGGTGGTAGGGTGGGAGGGGGGGGACAGGGGTAGGGTGGGAGGGGG GGACAGGGGGTAAGGGGTGGGAGGGGGGGACAGGGGGGTAGGGTGGGAGG GGGGGACAGGGGTAGGGTGGGAGGGGGGGACAGGGGTAGGGTGGGAGGGG GGACAGGGGTAGGGTGGGAGGGGGGACAGGGGTAGGGTGGGAGGGGGGAC AGGGGTAGGGTGGGAGGGGGGACAGGGGTAGGGTGGGAGGGGGGGACAGG GGTAGGGTGGGAGGGGGGGACAGGGGTAGGGTGGGAGGGGGGGGACAGGG GTAGGGTGGGAGGGGGGGACAGGGGTAGGGTGGGAGGGGGGGACAGGGGT AGGGTGGGAGGGGGGGACGGGGTAGGGTGGGAGGGGGGACGGGGTAGGGT GGGAGGGGGGACGGGGTAGGGTGGGAGGGGGGACGGGGTAGGGTGGGAGG GGGGACGGGGTAGGGTGGGAGGGGGGGACGGGGTAGGGTGGGAGGGGGGG ACGGGGTAGGGTGGGAGGGGGGGACGGGGTAGGGTGGGGGGGGACAGGGG GTAGGGTGGGGGGGGGGCACAGGGGGTAGGGTGGGGGGGGACAGGGGGTA GGGTGGGGGGGGGACACA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	88	0.0114	1217	c.86- others(1234): Show c.86-30128_86-30127insTGTGTCCCCCCCCCACCCTACCCCCTGT CCCCCCCCACCCTACCCCCTGTGCCCCCCCCCCACCCTACCCCCTGTCCC CCCCCACCCTACCCCGTCCCCCCCTCCCACCCTACCCCGTCCCCCCCTCC CACCCTACCCCGTCCCCCCCTCCCACCCTACCCCGTCCCCCCTCCCACCC TACCCCGTCCCCCCTCCCACCCTACCCCGTCCCCCCTCCCACCCTACCCC GTCCCCCCTCCCACCCTACCCCGTCCCCCCCTCCCACCCTACCCCTGTCC CCCCCTCCCACCCTACCCCTGTCCCCCCCTCCCACCCTACCCCTGTCCCC CCCCTCCCACCCTACCCCTGTCCCCCCCTCCCACCCTACCCCTGTCCCCC CCTCCCACCCTACCCCTGTCCCCCCTCCCACCCTACCCCTGTCCCCCCTC CCACCCTACCCCTGTCCCCCCTCCCACCCTACCCCTGTCCCCCCTCCCAC CCTACCCCTGTCCCCCCCTCCCACCCTACCCCTGTCCCCCCCTCCCACCC TACCCCCCTGTCCCCCCCTCCCACCCCTTACCCCCTGTCCCCCCCTCCCA CCCTACCCCTGTCCCCCCCCTCCCACCCTACCACCCCTGTCCCCCCCCTC CCACCCTACCCCCTGTCCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTC CCACCCTACCCCTGTCCCCCCTCCCACCCTACCCCCTGTCCCCCCCCCAC CCTACCCCCTGTCCCCCCCCCCCCCTTCCCCCCCCTCCCACCCTACCCCT GTCCCCCCCTCCCACCCTACCCCTGTCCCCCCCCTCCCACCCTACCCCTG TCCCCCCCCCCCACCCTACCCCTGTCCCCCCCCTCCCACCCTACCCCTGT CCCCCCCTCCCACCCTACCCCCTGTCCCCCCCCTCCCACCCTACCCCCCT GTCCCCCCCCTCCCACCCTACCCCCTGTCCCCTCCCACCCCTACCCCGTC CCCCCCCCCACCCTACCCCGTCCCCCCCCCCACCCCTACCCCCTGTCCCC CCCCACCCTACCCCCTGTCCCCCCCCTCCCACCCCTACCCCTGTCCCCCC CCTCCCACCCTACCCCCTGTCCCCCCCCCCTCCCCACCCTACCCCTGTCC CCCCCCCCCACCCTACCCCTGTCCCCCCCCCCACCCTACCCCCTGTCCCC CCCCACCCTACCCCGTCCCCCCCACTGTCCACCTTACCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar

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Search Results (Total: 10000 hits)