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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⚠️ 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
TMEM120B_chr12_121707752_121787068	121747351	G G	GCTGGGGT others(663): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGTCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03195.hp2 HG02486.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0076 a0001c0001t0029g0077 a0001c0001t0029g0076 a0001c0001t0029g0077	2	314	0.0064	670	c.189 others(685): Show c.189-962_189-961insTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(663): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCT CCCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCCCTCC CCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCCTCTG CCCTCCCCTCTCCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCCTCT CCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC TCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTC TCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTC CTCCCCTCCCCCCTCCCCTCCCTCCCCTTCCCCTCCCCCCTCCCTTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCGTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCCTCCCCTCCCCCCCTCCCCCTCCCCCCTCTCCTCTCCCCTCCCCTCT CCTCTCCCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC CTCCCCTCTCCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0101 a0002c0002t0001g0101	1	114	0.0088	670	c.-25 others(689): Show c.-25-12098_-25-12097insTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCCCTCCC CCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCCTCTGC CCTCCCCTCTCCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCCTCTC CCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCT CCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCT CCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCC TCCCCTCCCCCCTCCCCTCCCTCCCCTTCCCCTCCCCCCTCCCTTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCGTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCCTCCCCTCCCCCCCTCCCCCTCCCCCCTCTCCTCTCCCCTCCCCTCTC CTCTCCCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCC TCCCCTCTCCTCCCTTTCCTTCTCCCCTCCCCTCTCCCCTCCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TNFSF13B_chr13_108264718_108313478	108278578	C C	CTCCTCCT others(663): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCCTCTTCTTCCTCC TCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCT GCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCC TCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCTCCTTCT CCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCCTCCTCCT CCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTTC CTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCCGCTTC TCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCC CTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCCCCTCC TCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCC TCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCACTTCTCTTTCTCC TCCTCCCCTCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCCT CTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCTCCTC TTCCTCCTCCTCCCCTTCTCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	384	0.0026	670	c.424 others(687): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCCTC TTCTTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCT CCTTTCCTCCTCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCC TCCTCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCT TCCTCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCC CCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCT CCTCCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCC TCCTCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCT CCTCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTC CCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCACTT CTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTC CTCCCCTCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCT CCTCCTCCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TP53AIP1_chr11_128930370_128947871	128930893	T T	TGGGGTTA others(663): Show TGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGG GTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGGTTAGGGAGGCCAGGGGTT AGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAG GCCAGGGGGTTAGGGAGACCAAGGGTTAGGGAGGCTGGGGTTAGGGAGGC CGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGG GTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGG GAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGC TGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGG TTAGGGAGGCCAGGGTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGG AGGCCAGGGGGTTAGGGAGACCAAGGGTTAGGGAGGCTGGGGTTAGGGAG GCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCG GGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	466	0.0022	670	c.46 others(681): Show c.4697_*4698insTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCC CTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCTTAAC CCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCA GCCTCCCTAACCCTTGGTCTCCCTAACCCCCTGGCCTCCCTAACCCCAGC CTCCCTAACCCCGGCCTCCCTACCCTGGCCTCCCTAACCCCAGCCTCCCT AACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCC CGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCT CCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCTTA ACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCC CAGCCTCCCTAACCCTTGGTCTCCCTAACCCCCTGGCCTCCCTAACCCCA GCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTC CCTAACCCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCT AACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4476		chr11	TogoVar
TPO_chr2_1408463_1548673	1524604	C C	CCCTCACA others(663): Show CCCTCACACTGGGTGCAACCTCCTCAAATCCCCTACTCTGTGGAACCTCC TCAAATCCCCCCCACTGTGTGCAGCCTCCTCAAATCCCCTCACTATGTGC AACTCCACCAAATCTCCCCCACTGTGAGCAAAACCACAAATCCCCCCAAT GTGTGCAACTTCCTCAAATCCCCCCACTGTGTGCAACCTCCCCAAAACCC CCCACTGTTTGCAACACCCCCAAATCTCCCCCACTGTGAGCAAACCCCCA AAACCCCCACTGGGTACAACCTCCTCAAATCCCCCCACTGTGTGTAACCT CCCAAAATCCCCCCACTGTGTGCAAACCCCCCAAATCTCCCTATGACCAA AACCACAAATCCCCCCACTGTGTGCAACCTCCTCAAATCCCCCCAATGTG TGCAACCCCCAAAATCCCCCCCACTGTGGGCAACCCCCCCAAATCCCCCA CTGTGTGCAACCCCCCAAAACTCCCCCACTGTGAGCAAAACCACAAATCT CCCCAGTGTGTGCAGCCTCCTCAAATCCCCCCACTGTGCGCATCCCTCCA ATCCCCTCCACTCTGTGCAACCTCCCCAAATTCCCCCAACTGTGTGCAAC CTCCTCAAATCCCTCCCACTCTGTGCAAACTCCCCAAATCCACCCCACAC TGTGCAACCTCCTCAAATCCT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01167.hp2 others(14): Show HG01069.hp2 HG01071.hp2 HG01167.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02602.hp2 NA18962.hp2 NA19043.hp1 NA19043.hp2 NA19088.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0002c0002 a0002c0015 others(4): Show a0001c0001 a0002c0002 a0002c0015 a0007c0026 a0008c0011 a0008c0016 a0008c0028	a0001c0001t0003 a0002c0002t0003 a0002c0002t0006 others(5): Show a0001c0001t0003 a0002c0002t0003 a0002c0002t0006 a0002c0015t0003 a0007c0026t0003 a0008c0011t0006 a0008c0016t0003 a0008c0028t0003	a0001c0001t0003g0077 a0001c0001t0003g0128 a0002c0002t0003g0056 others(14): Show a0001c0001t0003g0077 a0001c0001t0003g0128 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0063 a0002c0002t0003g0074 a0002c0002t0003g0095 a0002c0002t0006g0027 a0002c0015t0003g0111 a0007c0026t0003g0052 a0008c0011t0006g0048 a0008c0011t0006g0092 a0008c0016t0003g0020 a0008c0028t0003g0003	17	130	0.1308	670	c.261 others(689): Show c.2618+7623_2618+7624insCTCACACTGGGTGCAACCTCCTCAAA TCCCCTACTCTGTGGAACCTCCTCAAATCCCCCCCACTGTGTGCAGCCTC CTCAAATCCCCTCACTATGTGCAACTCCACCAAATCTCCCCCACTGTGAG CAAAACCACAAATCCCCCCAATGTGTGCAACTTCCTCAAATCCCCCCACT GTGTGCAACCTCCCCAAAACCCCCCACTGTTTGCAACACCCCCAAATCTC CCCCACTGTGAGCAAACCCCCAAAACCCCCACTGGGTACAACCTCCTCAA ATCCCCCCACTGTGTGTAACCTCCCAAAATCCCCCCACTGTGTGCAAACC CCCCAAATCTCCCTATGACCAAAACCACAAATCCCCCCACTGTGTGCAAC CTCCTCAAATCCCCCCAATGTGTGCAACCCCCAAAATCCCCCCCACTGTG GGCAACCCCCCCAAATCCCCCACTGTGTGCAACCCCCCAAAACTCCCCCA CTGTGAGCAAAACCACAAATCTCCCCAGTGTGTGCAGCCTCCTCAAATCC CCCCACTGTGCGCATCCCTCCAATCCCCTCCACTCTGTGCAACCTCCCCA AATTCCCCCAACTGTGTGCAACCTCCTCAAATCCCTCCCACTCTGTGCAA ACTCCCCAAATCCACCCCACACTGTGCAACCTCCTCAAATCCTC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TUBA8_chr22_18105809_18136732	18106374	C C	CGTGGTTC others(663): Show CGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACG TGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTG GTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTGGT TCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTGGTTC CAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTGGTTCCA GTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTGGTTCCAGT CTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTGGTTCCAGTCT GAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGATGTGGTTTCAGTCTGT CTGAAGCCTGAGACCCAGGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCT GAAGCCTGAGATCCAGGAGAGCTAAGGACATGGTTCCAGTCTGAGTCTGA AGCCGGAGACCCAGGAGAGCTGATGGTGTGGTTCCAGTCTGAGTCTGAAG CCTGAGACCCAGGAGAGCTGAATACGTAGTTCCAGTCGGAGTCTGAAGCC TGAGATCCAGGAGAGCTGAGGACATGGTTCCAGTCTGAATCTGAAGCCCG AGACCCAGGAGAGCTGATGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG01243.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0239 a0001c0001t0001g0194 a0001c0001t0001g0239	2	426	0.0047	670	c.-44 others(681): Show c.-4492_-4491insGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCA CGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACG AGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAG AGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAG CTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCT GAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGA AGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAG ACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGAT GTGGTTTCAGTCTGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGACGTGG TTCCAGTCTGAGTCTGAAGCCTGAGATCCAGGAGAGCTAAGGACATGGTT CCAGTCTGAGTCTGAAGCCGGAGACCCAGGAGAGCTGATGGTGTGGTTCC AGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAATACGTAGTTCCAG TCGGAGTCTGAAGCCTGAGATCCAGGAGAGCTGAGGACATGGTTCCAGTC TGAATCTGAAGCCCGAGACCCAGGAGAGCTGATGGT	TUBA8	ENSG00000183785.16	transcript	ENST00000330423.8	protein_coding		4434		chr22	TogoVar
UBE2E3_chr2_180975605_181068425	181021630	T T	TCCTCCCT others(663): Show TCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCT TCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCT CCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTTC CTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCC CTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTCCCT CCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTC CTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCT CCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTC CTCCCTCCCTTTTTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	338	0.0030	670	c.246 others(689): Show c.246-36063_246-36062insCCTCCCTCCCTCCCTCCCTCCCTTCC TTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTC CCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCC TCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTC CCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTT CCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCC TCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTC CCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCC TCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTT CCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCC TTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTT CCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCC TTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTTTTTCCTTCC	UBE2E3	ENSG00000170035.16	transcript	ENST00000410062.9	protein_coding	3/5			chr2	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(663): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTC TCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCC CCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGT CCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCTCTCC CCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCC CCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCC TCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCC TCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTCTCCCCCCTCCCC CTCCCCCCTCCCCCTCTCTCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCT CCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCT TTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0003 a0012c0025t0003	a0012c0025t0003g0209 a0012c0025t0003g0209	1	246	0.0041	670	c.53- others(683): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCTCTCCTCCTCT CCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTC CTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCC CCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTC CTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCC CTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTCTCCCCC CTCCCCCTCCCCCCTCCCCCTCTCTCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCC TCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCC TCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(663): Show TCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTT CCCCCTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCC CTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTT CCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TCCCCCGTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTC CCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	246	0.0041	670	c.-10 others(687): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCC TTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTC CCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCT TCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTCCCCCGTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCC CCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(663): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGAAGGGAGGGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGG AGGGAAGGCAGGGAGGGGAGGGGAGGGAGGGAGGGGAGGGAGGGAGGGAA GGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGCGAGGGAGGGAAGGCAGG GAGGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAG GGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGT GAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGGAGGGAGGCAGGGAAGGGA GGGGAGGGAGGGAGGGAAGTGAAGGAAAGGGAAAGAGGGAGGGAGGGAAG GGAAGGGAAGGGAAGGGAGGGGAGGGTGGGGAGGGTGGGATGAAGGAAAT GGAAAGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0014 a0002c0006t0014	a0002c0006t0014g0079 a0002c0006t0014g0079	1	290	0.0035	670	c.205 others(689): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTGCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCCTCCCTGC CTTCCCTCCCTCGCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTTCCC TCCCTCCCTCCCCTCCCTCCCTCCCCTCCCCTCCCTGCCTTCCCTCCCTC CCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCC CTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTC CCTCCCCTTCCCTCCCCTCCCTTCCCTTCCCTCCCTCCCCTCCCTCCCCT CCCTCCCTCCCCTCCCTTCCCTGCCTACCTCCCTCCCCTCCCTTCCCTTC CCTCACTCCCTCCCTCCTCTCCCTTCCCTTTCCTCCCTCCCTCCTTCCTC TCACTTCCCTTTTCTCCCTCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(663): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGAAGGGAGGGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGG AGGGAAGGCAGGGAGGGGAGGGGAGGGAGGGAGGGGAGGGAGGGAGGGAA GGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGCGAGGGAGGGAAGGCAGG GAGGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAG GGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGT GAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGGAGGGAGGGAGGGAAGGGA GGGGAGGGAGGGAGGGAAGTGAAGGAAAGGGAAAGAGGGAGGGAGGGAAG GGAAGGGAAGGGAAGGGAGGGGAGGGTGGGGAGGGTGGGATGAAGGAAAT GGAAAGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02523.hp2 HG02559.hp1 others(7): Show HG01975.hp2 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02896.hp2 HG03041.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 NA18522.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0001c0004 a0001c0005 others(3): Show a0001c0002 a0001c0004 a0001c0005 a0002c0009 a0002c0032 a0005c0014	a0001c0002t0010 a0001c0004t0002 a0001c0005t0002 others(3): Show a0001c0002t0010 a0001c0004t0002 a0001c0005t0002 a0002c0009t0002 a0002c0032t0002 a0005c0014t0002	a0001c0002t0010g0125 a0001c0004t0002g0025 a0001c0004t0002g0043 others(7): Show a0001c0002t0010g0125 a0001c0004t0002g0025 a0001c0004t0002g0043 a0001c0004t0002g0227 a0001c0004t0002g0254 a0001c0005t0002g0128 a0001c0005t0002g0137 a0002c0009t0002g0018 a0002c0032t0002g0273 a0005c0014t0002g0080	10	290	0.0345	670	c.205 others(689): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCCTCCCTGC CTTCCCTCCCTCGCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTTCCC TCCCTCCCTCCCCTCCCTCCCTCCCCTCCCCTCCCTGCCTTCCCTCCCTC CCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCC CTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTC CCTCCCCTTCCCTCCCCTCCCTTCCCTTCCCTCCCTCCCCTCCCTCCCCT CCCTCCCTCCCCTCCCTTCCCTGCCTACCTCCCTCCCCTCCCTTCCCTTC CCTCACTCCCTCCCTCCTCTCCCTTCCCTTTCCTCCCTCCCTCCTTCCTC TCACTTCCCTTTTCTCCCTCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(663): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGAAGGGAGGGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGG AGGGAAGGCAGGGAGGGGAGGGGAGGGAGGGAGGGGAGGGAGGGAGGGAA GTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGCGAGGGAGGGAAGGCAGG GAGGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAG GGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGT GAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGGAGGGAGGGAGGGAAGGGA GGGGAGGGAGGGAGGGAAGTGAAGGAAAGGGAAAGAGGGAGGGAGGGAAG GGAAGGGAAGGGAAGGGAGGGGAGGGTGGGGAGGGTGGGATGAAGGAAAT GGAAAGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02258.hp2 HG03195.hp2 others(1): Show HG01255.hp2 HG02258.hp2 HG03195.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0006 a0001c0001 a0002c0003 a0002c0006	a0001c0001t0003 a0002c0003t0004 a0002c0003t0017 others(1): Show a0001c0001t0003 a0002c0003t0004 a0002c0003t0017 a0002c0006t0004	a0001c0001t0003g0047 a0002c0003t0004g0006 a0002c0003t0017g0284 others(1): Show a0001c0001t0003g0047 a0002c0003t0004g0006 a0002c0003t0017g0284 a0002c0006t0004g0267	4	290	0.0138	670	c.205 others(689): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCCTCCCTGC CTTCCCTCCCTCGCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCC TCCCTCCCTCCCCTCCCTCCCTCCCCTCCCCTCCCTGCCTTCCCTCCCTC CCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCC CTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTC CCTCCCCTTCCCTCCCCTCCCTTCCCTTCCCTCCCTCCCCTCCCTCCCCT CCCTCCCTCCCCTCCCTTCCCTGCCTACCTCCCTCCCCTCCCTTCCCTTC CCTCACTCCCTCCCTCCTCTCCCTTCCCTTTCCTCCCTCCCTCCTTCCTC TCACTTCCCTTTTCTCCCTCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(663): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGG AGGGAAGGCAGGGAGGGGAGGGGAGGGAGGGAGGGGAGGGAGGGAGGGAA GTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGCGAGGGAGGGAAGGCAGG GAGGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAG GGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGT GAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGGAGGGAGGGAGGGAAGGGA GGGGAGGGAGGGAGGGAAGTGAAGGAAAGGGAAAGAGGGAGGGAGGGAAG GGAAGGGAAGGGAAGGGAGGGGAGGGTGGGGAGGGTGGGATGAAGGAAAT GGAAAGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02572.hp1 HG02486.hp1 HG02572.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0009 a0001c0004 a0002c0009	a0001c0004t0002 a0002c0009t0002 a0001c0004t0002 a0002c0009t0002	a0001c0004t0002g0119 a0002c0009t0002g0011 a0001c0004t0002g0119 a0002c0009t0002g0011	2	290	0.0069	670	c.205 others(689): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCCTCCCTGC CTTCCCTCCCTCGCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCC TCCCTCCCTCCCCTCCCTCCCTCCCCTCCCCTCCCTGCCTTCCCTCCCTC CCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCC CTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTC CCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCT CCCTCCCTCCCCTCCCTTCCCTGCCTACCTCCCTCCCCTCCCTTCCCTTC CCTCACTCCCTCCCTCCTCTCCCTTCCCTTTCCTCCCTCCCTCCTTCCTC TCACTTCCCTTTTCTCCCTCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ADGRA1_chr10_133082924_133136675	133111178	A A	AACCACCC others(664): Show AACCACCCCTCCTAATCCCACCAGACAACCTGCCCGCCATGAGCACCTCC CTCCTAATCCCACCAGACAACCTGCCCACCACAGGCACCTCCCTCCTAAT CCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAG ACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTG CCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCAC GGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCT CCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTA ATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCC AGACAACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACC TGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACC ACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCAC CTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCC TAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCA CCAGACCACCTGCCCACCACAG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	368	0.0027	671	c.401 others(688): Show c.401+8336_401+8337insACCACCCCTCCTAATCCCACCAGACAAC CTGCCCGCCATGAGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCAC CACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCA CCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTC CTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCC ACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACC ACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCC ACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGG CACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACAGGCACCTCCC TCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATC CCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGA CCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGC CCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACA GGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111685	C C	CCTCCCTC others(664): Show CCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTC CTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCC ACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACC ACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACAACCTGCCC ACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGG CACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCC TCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATC CCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGA CAACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGC CCACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACG GGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCTC CCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAA TCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCA GACAACCTGCCCACCACAGACA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0042 a0001c0003t0042	a0001c0003t0042g0029 a0001c0003t0042g0029	1	368	0.0027	671	c.401 others(688): Show c.401+8844_401+8845insTCCCTCCTAATCCCACCAGACCACCTGC CCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACA GACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTC CCTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAA TCCCTCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCA GACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCT GCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCA CGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACACC TCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCCCTCCT AATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCAC CAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCAC CTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCAC CACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACA CCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACAC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(664): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATACTATATATATTCTATATACAG AATATATATAGTATATATATTCTATATACAGAATATATATAGTATATATA TTCTGTATACAGAATATATAGTATATATATTCTATATACAGAATATATAT AGTATATATATTCTGTATATAGAATATATATACTATATATATTCTATATA CAGAATATATATACTATATATATTCTATATATAGAATATATATATAGTAT ATATATTCTGTATATAGAATATATATAGTATATATATTCTGTATATATAC AGAATATATATAGTATATATATTCTATATACAGAATATATATAGTATATA TATTCTGTATACAGAATATATAGTATATATATTCTATATACAGAATATAT ATAGTATATATATTCTGTATACAGAATATATATACTATATATATTCTATA TACAGAATATATATACTATATATATTCTATATATAGAATATATATATAGT ATATATATTCTGTATATAGAATATATATAGTATATATATTCTGTATATAG AATATATATACTATATTAATTC	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	236	0.0042	671	c.409 others(690): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATATTCTATATATAGAATATATATAGTATATATATTCTGTATATA GAATATATATAGTATATATATTCTGTATACAGAATATATATACTATATAT ATTCTGTATATAGAATATATATACTATATATTCTGTATACAGAATATATA TACTATATATATTCTGTATATAGAATATATATACTATATATATTCTGTAT ATATACAGAATATATATACTATATATATTCTATATACAGAATATATATAC TATATATATATTCTATATATAGAATATATATAGTATATATATTCTGTATA TAGAATATATATAGTATATATATTCTATATACAGAATATATATACTATAT ATATTCTGTATATAGAATATATATACTATATATTCTGTATACAGAATATA TATACTATATATATTCTGTATATAGAATATATATACTATATATATTCTGT ATATAGAATATATATAGTATATATATTCTGTATATAGAATATATATACTA TATATATTCTGTATATAGAATATATATACTATATATATTCTGTATATAGA ATATATATACTATATATATTCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(664): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATATTAT ATACATATAATATATATTCTCATATATATTATATATACTCATATATATAA TATATATTCTCATATATATATATTATATATTCTCATATATATAATATATA TATTCTCATATATAATATATATTCTCATATATATAATATATACTCATATA TTATATATATTCTCATATATTATATATATACTCATATATAATGTATATAT TCTAATATATAATATATATTTTCTCATTTATATAATATATATTCTCATAT ATAATATATATTCTCATATATGACATATTATATATATTCTCATATATATT ATATATTCTCATATATAATATATATTCTCATATAATATATTATATATTCT CATATAATATATTATATATGCTCATATATAATATATTATATATGCTCATA TATAATATATTATATATGCTCATATATAATATATTATATATGCTCATATA TAATATATTATATATGCTCATATATAATATATTATATATGCTCATATATA ATATATTATATATGCTCATATATAATATATTATATATGCTCATATATAAT ATATTATATATGCTCATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0005 a0001c0015t0005	a0001c0015t0005g0000 a0001c0015t0005g0000	1	416	0.0024	671	c.10 others(684): Show c.10504_*10505insTATATATGAGCATATATAATATATTATATATG AGCATATATAATATATTATATATGAGCATATATAATATATTATATATGAG CATATATAATATATTATATATGAGCATATATAATATATTATATATGAGCA TATATAATATATTATATATGAGCATATATAATATATTATATATGAGCATA TATAATATATTATATATGAGCATATATAATATATTATATGAGAATATATA ATATATTATATGAGAATATATATTATATATGAGAATATATAATATATATG AGAATATATATAATATGTCATATATGAGAATATATATTATATATGAGAAT ATATATTATATAAATGAGAAAATATATATTATATATTAGAATATATACAT TATATATGAGTATATATATAATATATGAGAATATATATAATATATGAGTA TATATTATATATATGAGAATATATATTATATATGAGAATATATATATTAT ATATATGAGAATATATAATATATATATATGAGAATATATATTATATATAT GAGTATATATAATATATATGAGAATATATATTATATGTATATAATATATA TAATATATAATATATAATATATACATATATACATATAATATATAAACATA TAATATATAATATATACATGTAATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(664): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATATTAT ATACATATAATATATATTCTCATATATATTATATATACTCATATATATAA TATATATTCTCATATATATATATTATATATTCTCATATATATAATATATA TATTCTCATATATAATATATATTCTCATATATATAATATATACTCATATA TTATATATATTCTCATATATTATATATATACTCATATATAATGTATATAT TCTAATATATAATATATATTTTCTCATTTATATAATATATATTCTCATAT ATAATATATATTCTCATATATGACATATTATATATATTCTCATATATATT ATATATTCTCATATATAATATATATTCTCATATAATATATTATATATTCT CATATAATATATTATATATTCTCATATATAATATATTATATATGCTCATA TATAATATATTATATATGCTCATATATAATATATTATATATGCTCATATA TAATATATTATATATGCTCATATATAATATATTATATATGCTCATATATA ATATATTATATATGCTCATATATAATATATTATATATGCTCATATATAAT ATATTATATATGCTCATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG03704.hp1 HG03831.hp1 others(10): Show HG00408.hp2 HG03704.hp1 HG03831.hp1 HG04115.hp1 HG04115.hp2 NA18940.hp2 NA18942.hp2 NA18978.hp2 NA19007.hp1 NA19010.hp2 NA19060.hp1 NA19063.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0032 a0001c0001t0093 a0001c0001t0005 a0001c0001t0032 a0001c0001t0093	a0001c0001t0005g0000 a0001c0001t0032g0000 a0001c0001t0093g0000 a0001c0001t0005g0000 a0001c0001t0032g0000 a0001c0001t0093g0000	13	416	0.0313	671	c.10 others(684): Show c.10504_*10505insTATATATGAGCATATATAATATATTATATATG AGCATATATAATATATTATATATGAGCATATATAATATATTATATATGAG CATATATAATATATTATATATGAGCATATATAATATATTATATATGAGCA TATATAATATATTATATATGAGCATATATAATATATTATATATGAGCATA TATAATATATTATATATGAGAATATATAATATATTATATGAGAATATATA ATATATTATATGAGAATATATATTATATATGAGAATATATAATATATATG AGAATATATATAATATGTCATATATGAGAATATATATTATATATGAGAAT ATATATTATATAAATGAGAAAATATATATTATATATTAGAATATATACAT TATATATGAGTATATATATAATATATGAGAATATATATAATATATGAGTA TATATTATATATATGAGAATATATATTATATATGAGAATATATATATTAT ATATATGAGAATATATAATATATATATATGAGAATATATATTATATATAT GAGTATATATAATATATATGAGAATATATATTATATGTATATAATATATA TAATATATAATATATAATATATACATATATACATATAATATATAAACATA TAATATATAATATATACATGTAATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(664): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATATTAT ATACATATAATATATATTCTCATATATATTATATATACTCATATATATAA TATATATTCTCATATATATATATTATATATTCTCATATATATAATATATA TATTCTCATATATAATATATATTCTCATATATATAATATATACTCATATA TTATATATATTCTCATATATTATATATATACTCATATATAATGTATATAT TCTAATATATAATATATATTTTCTCATTTATATAATATATATTCTCATAT ATAATATATATTCTCATATATGACATATTATATATATTCTCATATATATT ATATATTCTCATATATAATATATATTCTCATATAATATATTATATATTCT CATATAATATATTATATATTCTCATATATAATATATTATATATGCTCATA TATAATATATTATATATGCTCATATATAATATATTATATATGCTCATATA TAATATATTATATATTCTCATATATAATATATTATATATGCTCATATATA ATATATTATATATGCTCATATATAATATATTATATATGCTCATATATAAT ATATTATATATGCTCATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	1	416	0.0024	671	c.10 others(684): Show c.10504_*10505insTATATATGAGCATATATAATATATTATATATG AGCATATATAATATATTATATATGAGCATATATAATATATTATATATGAG CATATATAATATATTATATATGAGAATATATAATATATTATATATGAGCA TATATAATATATTATATATGAGCATATATAATATATTATATATGAGCATA TATAATATATTATATATGAGAATATATAATATATTATATGAGAATATATA ATATATTATATGAGAATATATATTATATATGAGAATATATAATATATATG AGAATATATATAATATGTCATATATGAGAATATATATTATATATGAGAAT ATATATTATATAAATGAGAAAATATATATTATATATTAGAATATATACAT TATATATGAGTATATATATAATATATGAGAATATATATAATATATGAGTA TATATTATATATATGAGAATATATATTATATATGAGAATATATATATTAT ATATATGAGAATATATAATATATATATATGAGAATATATATTATATATAT GAGTATATATAATATATATGAGAATATATATTATATGTATATAATATATA TAATATATAATATATAATATATACATATATACATATAATATATAAACATA TAATATATAATATATACATGTAATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
ARHGAP39_chr8_144524179_144690846	144687391	G G	GGTGAGCA others(664): Show GGTGAGCACTTCCCACCCCCGTGACCACACACTAGCGGTGAGCACTTCCC ACCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACAC ACTGGCGGCGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCAC TTCCCACCCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGA CCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGT GAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCC CCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACT GGCGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTC CCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCAC GCACTGGCGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGC ACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTG ACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCG GTGAGCACTTCCCACCCCCGTGACCACACACTAGCAGTGAGCACTTCCCA CCCCCGTGACCACACACTAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	246	0.0041	671	c.-17 others(682): Show c.-1788_-1787insTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTC ACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTG GTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGA AGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCTGTAAA TGAGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGCGTGGTCACGGGG TGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCT GTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGCGTGGTCA CGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTG CTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGCG TGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGG AAGTGCTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAAGTGCTCGCTGTA AATGAGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGG GGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1546		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687440	A A	ACCCCTGT others(664): Show ACCCCTGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACG CACTGGCGGCGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGC ACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGT GACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCG GTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCAC CCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACAC TAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTT CCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCA CACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAG CACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCG TGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAG CGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCC ACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACAC ACTAGCGGTGAGCACTTCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0012 a0001c0003t0001g0012	1	246	0.0041	671	c.-18 others(682): Show c.-1837_-1836insGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGG GGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCG CTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGT CACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAG TGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGT GTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGT GGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCG CTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCAC GGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCT CACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTG GTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAA GTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAG TGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGG GTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACAGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1595		chr8	TogoVar
B4GALNT4_chr11_364499_387117	375197	A A	AGGAGGAA others(664): Show AGGAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGAGGGAGGAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGAAGGGAGGG AGGAGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGAGGAGGAG GAAGGGAGGTGTGGGAGGAAGGGAGGGAGGGGAGGAGGAAGGGAGGGTGG AGGAAGGGGAGGGAGGAGGTAGGGAGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGTGGAGGGAGGGAGGAGGAAGGGAGGGGAGGTGGAAGGGAG GGAGGAGGAAGGGAGGGGAAGGGTGAGGGAGGAGGAAGGGAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGAGGAG GAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAGGGA GGGAGGAGGGGGAGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0129 a0002c0004t0002g0129	1	184	0.0054	671	c.784 others(686): Show c.784-261_784-260insGGAAGGGAGGGAGGGAGGAAGGGAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGAGGGAGGAGGAAGGGAGGGAGGGAGG AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGAAGGGAGGGAGGAGGAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGAGGAGGAGGAAGGGAGGTGTGGGAGGAAGGGAGGGAGGGGAG GAGGAAGGGAGGGTGGAGGAAGGGGAGGGAGGAGGTAGGGAGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGTGGAGGGAGGGAGGAGGAAGGGAG GGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGGAAGGGTGAGGGAGGAG GAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGAGGAGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAGGGAGGGAGGAGGGGGAGGAGGGAGGGGA	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BSND_chr1_54993933_55022172	55003042	G G	GTGATGAT others(664): Show GTGATGATGATGGTGATTAGGAGATGCTGATGATGAGGATGGTGATGGTG AGAATGGTAATGGTGATGATAATAGTGATGATGATAATAGTGATAATGAT GGTGAGGATGGTGATGGTGACAATGGTGATGATGATGATGATAGTGATGA TGATGGTGATTAGGAGATGGTGATGATGAGGATGGTGATGGTGAGAATGG TAATGGTGATGATAATAGTGATGATGATAATAGTGATAATGATGGTGAGG ATGGTGATGGTGACAATGGTGATGATGATGATGATGATAGTGATGATGAT GGTGATTAGGAGATGGTGATGATGAGGATGGTGATGGTGAGAATGGTAAT GGTGATGATAATAGTGATGATGATGGTGAGGATGGTGATGGTGAAGATGG TGATGATGAGATTGGTGATAGAATGGTGATGGTAATGACGATGTTGATGG TAATGAAGATGTCAATGATGGTGATGTGATGATAATGATGGTAACGGTTA TGATGATGGTGATGGTGATAATGATAATGGTGATGATGATGGTAATGGTC ACGATGGTGATAGTGATGATGATAGTGGTGATAATGATGGTGATGTTGAT AATTTTGGTGGTGATAATAGTTATGGTGATGATTGATGGTAATGAGGATG AGGATGATGACGATTATTATTA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	448	0.0022	671	c.178 others(688): Show c.178-1965_178-1964insTTAGGAGATGCTGATGATGAGGATGGTG ATGGTGAGAATGGTAATGGTGATGATAATAGTGATGATGATAATAGTGAT AATGATGGTGAGGATGGTGATGGTGACAATGGTGATGATGATGATGATAG TGATGATGATGGTGATTAGGAGATGGTGATGATGAGGATGGTGATGGTGA GAATGGTAATGGTGATGATAATAGTGATGATGATAATAGTGATAATGATG GTGAGGATGGTGATGGTGACAATGGTGATGATGATGATGATGATAGTGAT GATGATGGTGATTAGGAGATGGTGATGATGAGGATGGTGATGGTGAGAAT GGTAATGGTGATGATAATAGTGATGATGATGGTGAGGATGGTGATGGTGA AGATGGTGATGATGAGATTGGTGATAGAATGGTGATGGTAATGACGATGT TGATGGTAATGAAGATGTCAATGATGGTGATGTGATGATAATGATGGTAA CGGTTATGATGATGGTGATGGTGATAATGATAATGGTGATGATGATGGTA ATGGTCACGATGGTGATAGTGATGATGATAGTGGTGATAATGATGGTGAT GTTGATAATTTTGGTGGTGATAATAGTTATGGTGATGATTGATGGTAATG AGGATGAGGATGATGACGATTATTATTATGATGATGATGGTGA	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
BSND_chr1_54993933_55022172	55003042	G G	GTGATGAT others(664): Show GTGATGATGATGGTGATTAGGAGATGCTGATGATGAGGATGGTGATGGTG AGAATGGTAATGGTGATGATAATAGTGATGATGATAATAGTGATAATGAT GGTGAGGATGGTGATGGTGACAATGGTGATGATGATGATGATGATAGTGA TGATGATGGTGATTAGGAGATGGTGATGATGAGGATGGTGATGGTGAGAA TGGTAATGGTGATAATAGTGATGATGATAATAGTGATAATGATGGTGAGG ATGGTGATGGTGACAATGGTGATGATGATGATGATGATAGTGATGATGAT GGTGATTAGGAGATGGTGATGATGAGGATGGTGATGGTGAGAATGGTAAT GGTGATGATAATAGTGATGATGATGGTGAGGATGGTGATGGTGAAGATGG TGATGATGAGATTGGTGATAGAATGGTGATGGTAATGACGATGTTGATGG TAATGAAGATGTCAATGATGGTGATGTGATGATAATGATGGTAACGGTTA TGATGATGGTGATGGTGATAATGATAATGGTGATGATGATGGTAATGGTC ACGATGGTGATAGTGATGATGATAGTGGTGATAATGATGGTGATGTTGAT AATTTTGGTGGTGATAATAGTTATGGTGATGATTGATGGTAATGAGGATG AGGATGATGACGATTATTATTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG03453.hp2 others(1): Show HG01109.hp1 HG01891.hp2 HG03453.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0147 a0001c0001t0171 a0001c0001t0058 a0001c0001t0147 a0001c0001t0171	a0001c0001t0058g0042 a0001c0001t0147g0157 a0001c0001t0171g0042 a0001c0001t0058g0042 a0001c0001t0147g0157 a0001c0001t0171g0042	4	448	0.0089	671	c.178 others(688): Show c.178-1965_178-1964insTTAGGAGATGCTGATGATGAGGATGGTG ATGGTGAGAATGGTAATGGTGATGATAATAGTGATGATGATAATAGTGAT AATGATGGTGAGGATGGTGATGGTGACAATGGTGATGATGATGATGATGA TAGTGATGATGATGGTGATTAGGAGATGGTGATGATGAGGATGGTGATGG TGAGAATGGTAATGGTGATAATAGTGATGATGATAATAGTGATAATGATG GTGAGGATGGTGATGGTGACAATGGTGATGATGATGATGATGATAGTGAT GATGATGGTGATTAGGAGATGGTGATGATGAGGATGGTGATGGTGAGAAT GGTAATGGTGATGATAATAGTGATGATGATGGTGAGGATGGTGATGGTGA AGATGGTGATGATGAGATTGGTGATAGAATGGTGATGGTAATGACGATGT TGATGGTAATGAAGATGTCAATGATGGTGATGTGATGATAATGATGGTAA CGGTTATGATGATGGTGATGGTGATAATGATAATGGTGATGATGATGGTA ATGGTCACGATGGTGATAGTGATGATGATAGTGGTGATAATGATGGTGAT GTTGATAATTTTGGTGGTGATAATAGTTATGGTGATGATTGATGGTAATG AGGATGAGGATGATGACGATTATTATTATGATGATGATGGTGA	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(664): Show ATATATATATAATTATATATATATATAATTATATATATAATTTTATATAT ATATAATTATATATATATATAATTATATATATAATTTTATATATATATAA TTATATATATAATTTTATATATATATAATTATATATATTTATATATATAT AATTATATATATATATAAAATTATATATATAATTATATATATTATATATA ATTATATATATAATTTTATATATATAATTATATATATTTATATATATATA TATAATTATATATATATATAAAATTATATATATAATTATATATATATTAT ATATAATTATATATATATATTATATATAATTTTATATATATAATTATATA TATAATTTTATATATATAATTTTATATATATAATTTTATATATATAATTT TATATATATAATTATATATATAATTTTATATATATATAATTATATATATA ATTTTATATATATATAATTATATATATAATTTTATATATATATAATTATA TATATAATTTTATATATATATAATTATATATATAATTTTATATATATATA ATTATATATATAATTATATATATAATTTTATATATATAATTATATATATA ATTTTATATATATATAATTATATATATAATTTTATATATATAATTATATA TATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0275 a0002c0002t0001g0275	1	330	0.0030	671	c.907 others(686): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATATAAAATTATATATATAATTATATATATAAAATTATA TATATAAAATTATATATATAAAATTATATATATAAAATTATATATATAAT TATATATATAAAATTATATATAATATATATATATAATTATATATAATATA TATATAATTATATATATAATTTTATATATATATATAATTATATATATATA TATAAATATATATAATTATATATATAAAATTATATATATAATTATATATA ATATATATAATTATATATATAATTTTATATATATATATAATTATATATAT ATAAATATATATAATTATATATATATAAAATTATATATATAATTATATAT ATATAAAATTATATATATAATTATATATATATATAATTATATATATATAA AATTATATATATAATTATATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255330	T T	TTATATAT others(664): Show TTATATATACAATTTTATATATATATAATTATATATACAATTTTATATAT ATATAATTATATATACAATTTTATATATATATAATTATATATACAATTTT ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATAATTATATATATAATTTTATAT ATATATAATTATATATATAATTTTATATATAATTATATATATAATTTTAT ATATAATTATATATATAATTTTATATATAATTATATATATAATTTTATAT ATAATTATATATATAATTTTATATATAATTATATATATAATTTTATATAT ATATAATTATATATATTATATAATTTTATATATATAATTATATATATTAT ATAATTATATATATAATTTTATATATATATAATTATATATACAATTTTAT AATATATATAATTATATATACAATTATATATATATATAATTATATATATA TAATTGTATATATAATTTTATATATATAATTATATATAATTTTATATATA TATAATTATATATATAATTATATATATATAATTATATATATTTATATATA TATATAATTATATATATAATTTTATATATATAATTTTATATAATTTTATA TATAATTATATATATAATTTTA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0233 a0003c0003t0001g0233	1	330	0.0030	671	c.907 others(686): Show c.907+219_907+220insTAAAATTATATATATAATTATATATAAAAT TATATAAAATTATATATATAAAATTATATATATAATTATATATATATATA AATATATATAATTATATATATATAATTATATATATAATTATATATATATA AAATTATATATAATTATATATATAAAATTATATATACAATTATATATATA TAATTATATATATATATAATTGTATATATAATTATATATATTATAAAATT GTATATATAATTATATATATATAAAATTATATATATAATTATATAATATA TATAATTATATATATAAAATTATATAATATATATAATTATATATATATAA AATTATATATATAATTATATATAAAATTATATATATAATTATATATAAAA TTATATATATAATTATATATAAAATTATATATATAATTATATATAAAATT ATATATATAATTATATATAAAATTATATATATAATTATATATATATAAAA TTATATATATAATTATATATATAAAATTATATATATAATTATATATATAT AAAATTATATATATAATTATATATATATAATTATATATATATAAAATTGT ATATATAATTATATATATATAAAATTGTATATATAATTATATATATATAA AATTGTATATATAATTATATATATATAAAATTGTATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CENPI_chrX_101093204_101171126	101137985	T T	TCTTTCTT others(664): Show TCTTTCTTTTTTTTTTTTTTAGACGGAGTCTTGCTGTGTTGCCAGGCTGG AGTGCAGTGGCGCGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTGA AGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGCGTG CCACCACGCCTGGCTAATTTTTTTGGTATTTTTAGTAGAGACGGGGTTTC ACCATGTTAGCCAGGATGGTCTCAATCTCCTGACATCATTATCAGACCGC CTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGC TCAACTTTGTTTTTAAAAAGAGAAAACCGGCCATAGGGCGGTGGCTTATG CCTATAATCCCAGTAATTTGGGAGACCGAGGCGGGTGGATCATTTGAGGT CAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTA AAAATACAAAAATTAGCCGGGTGGTAGTAGCGCACACCTGTAATCCCAGC TACTAAAGAGGATGAAGCCAGAGAATCGCTTGAGCCTAGGAGGCAGAGGT TGCAGTGAGCTGAGATCATGCCACTGCACTCCAGTTTGGGCGATGGAGTG AGATCCTGTCTCAAAAAAATAAAAAGACAAAACCTGTGTCCCCTTATCGT CATGAACATAAAAACCTCGTAC	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	282	0.0036	671	c.147 others(690): Show c.1471-2677_1471-2676insCTTTTTTTTTTTTTTAGACGGAGTCT TGCTGTGTTGCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATTGCAA CCTCCGCCTCCCGGGTTGAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAG CTGGGAGTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTTGGTATTT TTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCT GACATCATTATCAGACCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGC GTGAGCCACTGCGCCTGGCTCAACTTTGTTTTTAAAAAGAGAAAACCGGC CATAGGGCGGTGGCTTATGCCTATAATCCCAGTAATTTGGGAGACCGAGG CGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGG TGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGGTAGTAGC GCACACCTGTAATCCCAGCTACTAAAGAGGATGAAGCCAGAGAATCGCTT GAGCCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTC CAGTTTGGGCGATGGAGTGAGATCCTGTCTCAAAAAAATAAAAAGACAAA ACCTGTGTCCCCTTATCGTCATGAACATAAAAACCTCGTACCTTT	CENPI	ENSG00000102384.14	transcript	ENST00000682095.1	protein_coding	15/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CENPI_chrX_101093204_101171126	101137986	C C	CTTTCTTT others(664): Show CTTTCTTTTTTTTTTTTTTAGACGGAGTCTTGCTGTGTTGCCAGGCTGGA GTGCAGTGGCGCGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTGAA GCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGCGTGC CACCACGCCTGGCTAATTTTTTGGTATTTTTAGTAGAGACGGGGTTTCAC CATGTTAGCCAGGATGGTCTCAATCTCCTGACATCATTATCAGACCGCCT TGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTC AACTTTGTTTTTAAAAAGAGAAAACCGGCCATAGGGCGGTGGCTTATGCC TATAATCCCAGTAATTTGGGAGACCGAGGCGGGTGGATCATTTGAGGTCA GGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAA AATACAAAAATTAGCCGGGTGGTAGTAGCGCACACCTGTAATCCCAGCTA CTAAAGAGGATGAAGCCAGAGAATCGCTTGAGCCTAGGAGGCAGAGGTTG CAGTGAGCTGAGATCATGCCACTGCACTCCAGTTTGGGCGATGGAGTGAG ATCCTGTCTCAAAAAAATAAAAAGACAAAACCTGTGTCCCCTTATCGTCA TGAACATAAAAACCTCGTACCT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0123 a0001c0001t0004g0123	1	282	0.0036	671	c.147 others(690): Show c.1471-2677_1471-2676insCTTTTTTTTTTTTTTAGACGGAGTCT TGCTGTGTTGCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATTGCAA CCTCCGCCTCCCGGGTTGAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAG CTGGGAGTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTGGTATTTT TAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTG ACATCATTATCAGACCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCG TGAGCCACTGCGCCTGGCTCAACTTTGTTTTTAAAAAGAGAAAACCGGCC ATAGGGCGGTGGCTTATGCCTATAATCCCAGTAATTTGGGAGACCGAGGC GGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGT GAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGGTAGTAGCG CACACCTGTAATCCCAGCTACTAAAGAGGATGAAGCCAGAGAATCGCTTG AGCCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCC AGTTTGGGCGATGGAGTGAGATCCTGTCTCAAAAAAATAAAAAGACAAAA CCTGTGTCCCCTTATCGTCATGAACATAAAAACCTCGTACCTTTT	CENPI	ENSG00000102384.14	transcript	ENST00000682095.1	protein_coding	15/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CENPI_chrX_101093204_101171126	101137987	T T	TGTCTTTT others(664): Show TGTCTTTTTTTTTTTTTTTAGACGGAGTCTTGCTGTGTTGCCAGGCTGGA GTGCAGTGGCGCGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTGAA GCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGCGTGC CACCACGCCTGGCTAATTTTTTTGGTATTTTTAGTAGAGACAGGGTTTCA CCATGTTAGCCAGGATGGTCTCAGTCTCCTGACATCATTATCAGACCGCC TTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCT CAACTTTGTTTTTAAAAAGAGAAAACCGGCCATAGGGCGGTGGCTTATGC CTATAATCCCAGTAATTTGGGAGACCGAGGCGGGTGGATCATTTGAGGTC AGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAATTAGCCGGGTGGTAGTAGCGCACACCTGTAATCCCAGCT ACTAAAGAGGATGAAGCCAGAGAATCGCTTGAGCCTAGGAGGCAGAGGTT GCAGTGAGCTGAGATCATGCCACTGCACTCCAGTTTGGGCGATGGAGTGA GATCCTGTCTCAAAAAAATAAAAAGACAAAACCTGTGTCCCCTTATCGTC ATGAACATAAAAACCTCGTACC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02015.hp1 HG03041.hp2 others(2): Show HG01975.hp2 HG02015.hp1 HG03041.hp2 NA18942.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0030 a0001c0002t0002 a0001c0002t0006 a0001c0002t0030	a0001c0002t0002g0225 a0001c0002t0002g0230 a0001c0002t0002g0245 others(2): Show a0001c0002t0002g0225 a0001c0002t0002g0230 a0001c0002t0002g0245 a0001c0002t0006g0267 a0001c0002t0030g0196	5	282	0.0177	671	c.147 others(690): Show c.1471-2679_1471-2678insGTCTTTTTTTTTTTTTTTAGACGGAG TCTTGCTGTGTTGCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATTG CAACCTCCGCCTCCCGGGTTGAAGCAATTCTCCTGTCTCAGCCTCCCAAG TAGCTGGGAGTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTTGGTA TTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCAGTCT CCTGACATCATTATCAGACCGCCTTGGCCTTCCAAAGTGCTGGGATTACA GGCGTGAGCCACTGCGCCTGGCTCAACTTTGTTTTTAAAAAGAGAAAACC GGCCATAGGGCGGTGGCTTATGCCTATAATCCCAGTAATTTGGGAGACCG AGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACA TGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGGTAGT AGCGCACACCTGTAATCCCAGCTACTAAAGAGGATGAAGCCAGAGAATCG CTTGAGCCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCA CTCCAGTTTGGGCGATGGAGTGAGATCCTGTCTCAAAAAAATAAAAAGAC AAAACCTGTGTCCCCTTATCGTCATGAACATAAAAACCTCGTACC	CENPI	ENSG00000102384.14	transcript	ENST00000682095.1	protein_coding	15/21			chrX	TogoVar
CENPI_chrX_101093204_101171126	101137987	T T	TTTCTTTT others(664): Show TTTCTTTTTTTTTTTTTTTAGACGGAGTCTTGCTGTGTTGCCAGGCTGGA GTGCAGTGGCGCGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTGAA GCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGCGTGC CACCACGCCTGGCTAATTTTTTTGGTATTTTTAGTAGAGACGGGGTTTCA CCATGTTAGCCAGGATGGTCTCAATCTCCTGACATCATTATCAGACCGCC TTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCT CAACTTTGTTTTTAAAAAGAGAAAACCGGCCATAGGGCGGTGGCTTATGC CTATAATCCCAGTAATTTGGGAGACCGAGGCGGGTGGATCATTTGAGGTC AGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAATTAGCCGGGTGGTAGTAGCGCACACCTGTAATCCCAGCT ACTAAAGAGGATGAAGCCAGAGAATCGCTTGAGCCTAGGAGGCAGAGGTT GCAGTGAGCTGAGATCATGCCACTGCACTCCAGTTTGGGCGATGGAGTGA GATCCTGTCTCAAAAAAATAAAAAGACAAAACCTGTGTCCCCTTATCGTC ATGAACATAAAAACCTCGTACC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01169.hp1 NA18955.hp1 others(3): Show HG00558.hp1 HG01169.hp1 NA18955.hp1 NA18986.hp1 NA18994.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0076 others(3): Show a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0076 a0001c0001t0001g0092 a0001c0001t0001g0109 a0001c0001t0001g0112	6	282	0.0213	671	c.147 others(690): Show c.1471-2677_1471-2676insCTTTTTTTTTTTTTTTAGACGGAGTC TTGCTGTGTTGCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATTGCA ACCTCCGCCTCCCGGGTTGAAGCAATTCTCCTGTCTCAGCCTCCCAAGTA GCTGGGAGTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTTGGTATT TTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCC TGACATCATTATCAGACCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGG CGTGAGCCACTGCGCCTGGCTCAACTTTGTTTTTAAAAAGAGAAAACCGG CCATAGGGCGGTGGCTTATGCCTATAATCCCAGTAATTTGGGAGACCGAG GCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATG GTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGGTAGTAG CGCACACCTGTAATCCCAGCTACTAAAGAGGATGAAGCCAGAGAATCGCT TGAGCCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACT CCAGTTTGGGCGATGGAGTGAGATCCTGTCTCAAAAAAATAAAAAGACAA AACCTGTGTCCCCTTATCGTCATGAACATAAAAACCTCGTACCTT	CENPI	ENSG00000102384.14	transcript	ENST00000682095.1	protein_coding	15/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CENPI_chrX_101093204_101171126	101137987	T T	TTTCTTTT others(664): Show TTTCTTTTTTTTTTTTTTTAGACGGAGTCTTGCTGTGTTGCCAGGCTGGA GTGCAGTGGCGCGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTGAA GCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGCGTGC CACCACGCCTGGCTAATTTTTTTGGTATTTTTAGTAGAGACGGGGTTTCA CCATGTTAGCCAGGATGGTCTCAATCTCCTGACATCATTATCAGACCGCC TTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCT CAACTTTGTTTTTAAAAAGAGAAAACCGGCCGTAGGGCGGTGGCTTATGC CTATAATCCCAGTAATTTGGGAGACCGAGGCGGGTGGATCATTTGAGGTC AGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAATTAGCCGGGTGGTAGTAGCGCACACCTGTAATCCCAGCT ACTAAAGAGGATGAAGCCAGAGAATCGCTTGAGCCTAGGAGGCAGAGGTT GCAGTGAGCTGAGATCATGCCACTGCACTCCAGTTTGGGCGATGGAGTGA GATCCTGTCTCAAAAAAATAAAAAGACAAAACCTGTGTCCCCTTATCGTC ATGAACATAAAAACCTCGTACC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0098 a0001c0001t0013g0098	1	282	0.0036	671	c.147 others(690): Show c.1471-2677_1471-2676insCTTTTTTTTTTTTTTTAGACGGAGTC TTGCTGTGTTGCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATTGCA ACCTCCGCCTCCCGGGTTGAAGCAATTCTCCTGTCTCAGCCTCCCAAGTA GCTGGGAGTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTTGGTATT TTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCC TGACATCATTATCAGACCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGG CGTGAGCCACTGCGCCTGGCTCAACTTTGTTTTTAAAAAGAGAAAACCGG CCGTAGGGCGGTGGCTTATGCCTATAATCCCAGTAATTTGGGAGACCGAG GCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATG GTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGGTAGTAG CGCACACCTGTAATCCCAGCTACTAAAGAGGATGAAGCCAGAGAATCGCT TGAGCCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACT CCAGTTTGGGCGATGGAGTGAGATCCTGTCTCAAAAAAATAAAAAGACAA AACCTGTGTCCCCTTATCGTCATGAACATAAAAACCTCGTACCTT	CENPI	ENSG00000102384.14	transcript	ENST00000682095.1	protein_coding	15/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(664): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGC CCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00544.hp1 others(40): Show HG00140.hp2 HG00280.hp2 HG00544.hp1 HG00741.hp1 HG01070.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01517.hp1 HG01891.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02148.hp1 HG02155.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02965.hp2 HG03130.hp2 HG03491.hp1 HG03834.hp1 NA18943.hp2 NA18946.hp2 NA18952.hp1 NA18963.hp1 NA18964.hp2 NA18980.hp1 NA18983.hp1 NA19011.hp1 NA19011.hp2 NA19067.hp2 NA19079.hp1 NA19088.hp1 NA19091.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2	a0001 a0003 a0023 others(3): Show a0001 a0003 a0023 a0024 a0035 a0037	a0001c0001 a0001c0009 a0001c0024 others(9): Show a0001c0001 a0001c0009 a0001c0024 a0001c0032 a0001c0057 a0001c0058 a0003c0003 a0003c0028 a0023c0035 a0024c0033 a0035c0065 a0037c0062	a0001c0001t0001 a0001c0001t0005 a0001c0009t0001 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0009t0001 a0001c0024t0001 a0001c0032t0001 a0001c0057t0001 a0001c0058t0001 a0003c0003t0001 a0003c0028t0001 a0023c0035t0001 a0024c0033t0001 a0035c0065t0001 a0037c0062t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0040 others(23): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0040 a0001c0001t0001g0086 a0001c0001t0001g0122 a0001c0001t0001g0152 a0001c0001t0001g0160 a0001c0001t0001g0170 a0001c0001t0001g0180 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0214 a0001c0001t0005g0123 a0001c0009t0001g0002 a0001c0024t0001g0002 a0001c0032t0001g0121 a0001c0057t0001g0010 a0001c0058t0001g0002 a0003c0003t0001g0008 a0003c0003t0001g0049 a0003c0003t0001g0066 a0003c0028t0001g0008 a0023c0035t0001g0002 a0024c0033t0001g0098 a0035c0065t0001g0002 a0037c0062t0001g0002	43	428	0.1005	671	c.217 others(686): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGC CCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(664): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	428	0.0023	671	c.217 others(686): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(664): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCTTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGC CCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18971.hp2 NA18995.hp1 others(1): Show NA18952.hp2 NA18971.hp2 NA18995.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0041 a0001c0001t0001g0215 a0001c0001t0001g0216	4	428	0.0094	671	c.217 others(686): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCTTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGC CCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(664): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0056 a0003c0003t0001g0056	1	428	0.0023	671	c.217 others(686): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(664): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCTGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGC CCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	428	0.0023	671	c.217 others(686): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCTGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGC CCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(664): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	428	0.0023	671	c.217 others(686): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCACGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(664): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01981.hp1 NA18961.hp2 others(1): Show HG00733.hp1 HG01981.hp1 NA18961.hp2 NA19085.hp2	a0001 a0053 a0001 a0053	a0001c0001 a0053c0074 a0001c0001 a0053c0074	a0001c0001t0001 a0053c0074t0001 a0001c0001t0001 a0053c0074t0001	a0001c0001t0001g0019 a0053c0074t0001g0186 a0001c0001t0001g0019 a0053c0074t0001g0186	4	428	0.0094	671	c.217 others(686): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
COL19A1_chr6_69861556_70217468	69920974	G G	GTATATTC others(664): Show GTATATTCATATATATATTCATATGTATATTCATATATATGATATATATC ATATATACATATGATATATACATGATATATATGATATATATGATATATAT GATATATATATGATATATATGATACATATGATATATATGATATATATATG ATACAAATGATATATATGATATATATGATATATATGATATATATGATATA TATCATATATATATATCAGATATATGATATATATGATATATACATGATAT ATATGATACATATGATATATATGATATATATATGATACAATGATACAAAT GATATATATGATATATATGATATATATCAGATATATATATCATATATATC ATATATATCATTTGTATCATATATATATCATATATATCATATGTATCATA TATATCATGTATATATCATATATATCATATATATCATATATGTATTCATA TATATCATATATATTCATATATCATATATATTCATATATATCATATATTC ATATATATCATATATATTCATATATATCATATATTCATATATATCATATA TATTCATATATATATCATATATATTCATATATATATCATATATATTCATA TATATATCATATATATTCATATATATATCATATATATTCATATATATATC ATATATATTCATATATATCATA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0097 a0001c0007t0005g0097	1	182	0.0055	671	c.267 others(688): Show c.267-6912_267-6911insGTATATTCATATATATGATATATATCAT ATATACATATGATATATACATGATATATATGATATATATGATATATATGA TATATATATGATATATATGATACATATGATATATATGATATATATATGAT ACAAATGATATATATGATATATATGATATATATGATATATATGATATATA TCATATATATATATCAGATATATGATATATATGATATATACATGATATAT ATGATACATATGATATATATGATATATATATGATACAATGATACAAATGA TATATATGATATATATGATATATATCAGATATATATATCATATATATCAT ATATATCATTTGTATCATATATATATCATATATATCATATGTATCATATA TATCATGTATATATCATATATATCATATATATCATATATGTATTCATATA TATCATATATATTCATATATCATATATATTCATATATATCATATATTCAT ATATATCATATATATTCATATATATCATATATTCATATATATCATATATA TTCATATATATATCATATATATTCATATATATATCATATATATTCATATA TATATCATATATATTCATATATATATCATATATATTCATATATATATCAT ATATATTCATATATATCATATATATTCATATATATATTCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL22A1_chr8_138583235_138919041	138692270	T T	TTGTGGAG others(664): Show TTGTGGAGGTGTGTGTATGTGTGTAATGTGTGTATGCATGTTTGTGGAGG TGTATGTGTGGAGGTGTGTGTGTATGTGTGCATGTTTGTGGAGGTGTATG CATGCGTGTGCATGTGAAGGTGTGTGAGTGAGTGTGTGCACGTTTGTGGA GGTGTGTGTGCACGTGTGTGTGTGCATGTTTGTGGAGGTGTGTGTATGTG TGTAATGTGTGTATGCACGTTTGTGGAGGTGTATGTGTGGAGGTGTGTGT GTATGTGTGCAGTGCATGTGTGCATGTTTGTGGAGGTGTATGCATGCGTG TGCATTTGTGAAGGTGTGTGAGTGTGTGCACGTTTGTGGAGGTGTGTGTG CACGTGTGTGTGTGCATGTTTGTGGAGGTGTGTATATGTGTACACATGCG TGTGTGCGTTTGTGGAGGTGTATGTGTGTACGTGTGTGTGCATGTTTGTG GTGGTATGTGTATGTGTGGAGGTGTGTATGTGTGCACGTGCATGTGTGCA TGTTTGTGGAGGTGTATGTGTGCACGTGCATGCACATTTGTGGACGTGTG TGCGTGTGTGTGCATGTTTGTGGAGGTGTGTGTGCGCGTGCGTGTATGCA TGTTTGTGGAGGTGTGTGTGTACATGTGTGTATGCATGTTTGTGGAGGTG TATGTGTGGAGGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18944.hp1 NA18985.hp1 others(2): Show HG02523.hp2 NA18944.hp1 NA18985.hp1 NA19060.hp1 NA19065.hp2	a0002 a0002	a0002c0004 a0002c0007 a0002c0009 others(1): Show a0002c0004 a0002c0007 a0002c0009 a0002c0011	a0002c0004t0006 a0002c0007t0001 a0002c0007t0005 others(2): Show a0002c0004t0006 a0002c0007t0001 a0002c0007t0005 a0002c0009t0015 a0002c0011t0006	a0002c0004t0006g0131 a0002c0007t0001g0081 a0002c0007t0005g0145 others(2): Show a0002c0004t0006g0131 a0002c0007t0001g0081 a0002c0007t0005g0145 a0002c0009t0015g0146 a0002c0011t0006g0122	5	158	0.0317	671	c.275 others(690): Show c.2754+1375_2754+1376insTACACACACACCTCCACACATACACC TCCACAAACATGCATACACACATGTACACACACACCTCCACAAACATGCA TACACGCACGCGCACACACACCTCCACAAACATGCACACACACGCACACA CGTCCACAAATGTGCATGCACGTGCACACATACACCTCCACAAACATGCA CACATGCACGTGCACACATACACACCTCCACACATACACATACCACCACA AACATGCACACACACGTACACACATACACCTCCACAAACGCACACACGCA TGTGTACACATATACACACCTCCACAAACATGCACACACACACGTGCACA CACACCTCCACAAACGTGCACACACTCACACACCTTCACAAATGCACACG CATGCATACACCTCCACAAACATGCACACATGCACTGCACACATACACAC ACACCTCCACACATACACCTCCACAAACGTGCATACACACATTACACACA TACACACACCTCCACAAACATGCACACACACACGTGCACACACACCTCCA CAAACGTGCACACACTCACTCACACACCTTCACATGCACACGCATGCATA CACCTCCACAAACATGCACACATACACACACACCTCCACACATACACCTC CACAAACATGCATACACACATTACACACATACACACACCTCCACA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	35/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138692270	T T	TTGTGGAG others(664): Show TTGTGGAGGTGTGTGTATGTGTGTAATGTGTGTATGCATGTTTGTGGAGG TGTATGTGTGGAGGTGTGTGTGTATGTGTGCATGTTTGTGGAGGTGTATG CATGCGTGTGCATTTGTGAAGGTGTGTGAGTGAGTGTGTGCACGTTTGTG GAGGTGTGTGTGCACGTGTGTGTGTGCATGTTTGTGGAGGTGTGTGTATG TGTGTAATGTGTGTATGCACGTTTGTGGAGGTGTATGTGTGGAGGTGTGT GTGTATGTGTGCAGTGCATGTGTGCATGTTTGTGGAGGTGTATGCATGCG TGTGCATTTGTGAAGGTGTGTGAGTGTGTGCACGTTTGTGGAGGTGTGTG TGCACGTGTGTGTGTGCATGTTTGTGGAGGTGTGTATATGTGTACACATG CGTGTGTGCGTTTGTGGAGGTGTATGTGTGTACGTGTGTGTGCATGTTTG TGGTGGTATGTGTATGTGTGGAGGTGTGTATGTGTGCACGTGCATGTGCA TGTTTGTGGAGGTGTATGTGTGCACGTGCATGCACATTTGTGGACGTGTG TGCGTGTGTGTGCATGTTTGTGGAGGTGTGTGTGCGCGTGCGTGTATGCA TGTTTGTGGAGGTGTGTGTGTACATGTGTGTATGCATGTTTGTGGAGGTG TATGTGTGGAGGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0088 a0002c0004t0002g0088	1	158	0.0063	671	c.275 others(690): Show c.2754+1375_2754+1376insTACACACACACCTCCACACATACACC TCCACAAACATGCATACACACATGTACACACACACCTCCACAAACATGCA TACACGCACGCGCACACACACCTCCACAAACATGCACACACACGCACACA CGTCCACAAATGTGCATGCACGTGCACACATACACCTCCACAAACATGCA CATGCACGTGCACACATACACACCTCCACACATACACATACCACCACAAA CATGCACACACACGTACACACATACACCTCCACAAACGCACACACGCATG TGTACACATATACACACCTCCACAAACATGCACACACACACGTGCACACA CACCTCCACAAACGTGCACACACTCACACACCTTCACAAATGCACACGCA TGCATACACCTCCACAAACATGCACACATGCACTGCACACATACACACAC ACCTCCACACATACACCTCCACAAACGTGCATACACACATTACACACATA CACACACCTCCACAAACATGCACACACACACGTGCACACACACCTCCACA AACGTGCACACACTCACTCACACACCTTCACAAATGCACACGCATGCATA CACCTCCACAAACATGCACACATACACACACACCTCCACACATACACCTC CACAAACATGCATACACACATTACACACATACACACACCTCCACA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	35/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138692270	T T	TTGTGGAG others(664): Show TTGTGGAGGTGTGTGTATGTGTGTAATGTGTGTATGCATGTTTGTGGAGG TGTATGTGTGGAGGTGTGTGTGTATGTGTGCATGTTTGTGGAGGTGTATG CATGCGTGTGCATTTGTGAAGGTGTGTGAGTGAGTGTGTGCACGTTTGTG GAGGTGTGTGTGCACGTGTGTGTGTGCATGTTTGTGGAGGTGTGTGTATG TGTGTAATGTGTGTATGCACGTTTGTGGAGGTGTATGTGTGGAGGTGTGT GTGTATGTGTGCAGTGCATGTGTGCATGTTTGTGGAGGTGTATGCATGCG TGTGCATTTGTGAAGGTGTGTGAGTGTGTGCACGTTTGTGGAGGTGTGTG TGCACGTGTGTGTGTGCATGTTTGTGGAGGTGTGTATATGTGTACACATG CGTGTGTGCGTTTGTGGAGGTGTATGTGTGTACGTGTGTGTGCATGTTTG TGGTGGTATGTGTATGTGTGGAGGTGTGTATGTGTGCACGTGCATGTGTG CATGTTTGTGGAGGTGTATGTGCACGTGCATGCACATTTGTGGACGTGTG TGCGTGTGTGTGCATGTTTGTGGAGGTGTGTGTGCGCGTGCGTGTATGCA TGTTTGTGGAGGTGTGTGTGTACATGTGTGTATGCATGTTTGTGGAGGTG TATGTGTGGAGGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0005 a0002c0011t0005	a0002c0011t0005g0144 a0002c0011t0005g0144	1	158	0.0063	671	c.275 others(690): Show c.2754+1375_2754+1376insTACACACACACCTCCACACATACACC TCCACAAACATGCATACACACATGTACACACACACCTCCACAAACATGCA TACACGCACGCGCACACACACCTCCACAAACATGCACACACACGCACACA CGTCCACAAATGTGCATGCACGTGCACATACACCTCCACAAACATGCACA CATGCACGTGCACACATACACACCTCCACACATACACATACCACCACAAA CATGCACACACACGTACACACATACACCTCCACAAACGCACACACGCATG TGTACACATATACACACCTCCACAAACATGCACACACACACGTGCACACA CACCTCCACAAACGTGCACACACTCACACACCTTCACAAATGCACACGCA TGCATACACCTCCACAAACATGCACACATGCACTGCACACATACACACAC ACCTCCACACATACACCTCCACAAACGTGCATACACACATTACACACATA CACACACCTCCACAAACATGCACACACACACGTGCACACACACCTCCACA AACGTGCACACACTCACTCACACACCTTCACAAATGCACACGCATGCATA CACCTCCACAAACATGCACACATACACACACACCTCCACACATACACCTC CACAAACATGCATACACACATTACACACATACACACACCTCCACA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	35/64			chr8	TogoVar
DISP3_chr1_11474155_11542551	11522716	G G	GGCCCAGC others(664): Show GGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGAGCCCA GCCAGGACCCAGCCAGAGCCCAACCAGGGCCCAGCCAGGACCCAGCCAGG ACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAG CCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGA CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGC CAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGC CCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCC AGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGCC CAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCA GAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCC AGCCAGGACCCAGCCAAAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAG GACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCA GCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGA GCCCAGCCAGGGCCCAGCGAGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0012 a0004c0016t0012	a0004c0016t0012g0054 a0004c0016t0012g0054	1	358	0.0028	671	c.236 others(690): Show c.2363-1215_2363-1214insACCCAGCCAGAGCCCAGCCAGGGCCC AGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAACCAGGGCCCAGCCAG GACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCA GCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGG ACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAG CCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGGG CCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGC CAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGAC CCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCC AGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCC CAGCCAGAGCCCAGCCAGGACCCAGCCAAAGCCCAGCCAGGACCCAGCCA GGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCC AGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DOCK1_chr10_126900428_127457516	126948419	A A	ATGGTGGT others(664): Show ATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTA GTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGG TGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAG TATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGT GGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGT AGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTG GTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTG GTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGG TGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGT TGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGT GGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGT AGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTG GTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTG GTAGTATTACTGTTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0134 a0001c0005t0006g0134	1	136	0.0074	671	c.47- others(688): Show c.47-22273_47-22272insTGGTAGTATTACTGTTGGTGGTGGTGGT GGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATT ACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTG GTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTA CTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGG TGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTAT TACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGT ATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTG ATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTA TTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGG TGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTAT TACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DYNC2I1_chr7_158851558_158951189	158950630	G G	GGGGACCA others(664): Show GGGGACCAGCCTCTATACGATTCCAGGTGTTCTATATGATTCCAGGTGTG ATATACTGCACTGGGACCAGCCTCTATATGATTCCAGGTGTTCTATATGA TTCCAGGTGTGATATACTGCACCGGGACCAGCCTCTATACGATTCCAGGT GTTCTATATGATTCCAGGTGTGATATACTGCACCGGGACCAGCCTCTATA TGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACCGGGAC CAGCCTCTATACGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATAC TGCACCGGGACCAGCCTCTATACGATTCCAGGTGTTCTATATGATTCCAG GTGTGATATACTGCACCGGGACCAGCCTCTATACGATTCCAGGTGTTCTA TATGATTCCAGGTGTGATATACTGCACGGGGACCAGCCTCTATACGATTC CAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACCGGGACCAGCCT CTATATGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACC GGGACCAGCCTCTATATGATTCCAGGTGTTCTATATGATTCCAGGTGTGA TATACTGCATGGGGACCAGCCTCTATACAATTCCAGGTGTTCTATATGAT TCCAGGTGTGATATACTGCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0015 a0002c0019t0015	a0002c0019t0015g0043 a0002c0019t0015g0043	1	274	0.0037	671	c.48 others(682): Show c.4851_*4852insGGGACCAGCCTCTATACGATTCCAGGTGTTCTAT ATGATTCCAGGTGTGATATACTGCACTGGGACCAGCCTCTATATGATTCC AGGTGTTCTATATGATTCCAGGTGTGATATACTGCACCGGGACCAGCCTC TATACGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACCG GGACCAGCCTCTATATGATTCCAGGTGTTCTATATGATTCCAGGTGTGAT ATACTGCACCGGGACCAGCCTCTATACGATTCCAGGTGTTCTATATGATT CCAGGTGTGATATACTGCACCGGGACCAGCCTCTATACGATTCCAGGTGT TCTATATGATTCCAGGTGTGATATACTGCACCGGGACCAGCCTCTATACG ATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACGGGGACCA GCCTCTATACGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTG CACCGGGACCAGCCTCTATATGATTCCAGGTGTTCTATATGATTCCAGGT GTGATATACTGCACCGGGACCAGCCTCTATATGATTCCAGGTGTTCTATA TGATTCCAGGTGTGATATACTGCATGGGGACCAGCCTCTATACAATTCCA GGTGTTCTATATGATTCCAGGTGTGATATACTGCACC	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding		4442		chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158950830	T T	TGATTCCA others(664): Show TGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACCGGGAC CAGCCTCTATACGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATAC TGCACCGGGACCAGCCTCTATACGATTCCAGGTGTTCTATATGATTCCAG GTGTGATATACTGCACCGGGACCAGCCTCTATACGATTCCAGGTGTTCTA TATGATTCCAGGTGTGATATACTGCACGGGGACCAGCCTCTATACGATTC CAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACCGGGACCAGCCT CTATATGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACC GGGACCAGCCTCTATATGATTCCAGGTGTTCTATATGATTCCAGGTGTGA TATACTGCATGGGGACCAGCCTCTATACAATTCCAGGTGTTCTATATGAT TCCAGGTGTGATATACTGCACCGGGACCAGCCTCTATACGATTCCAGGTG TTCTATATGATTCCAGGTGTGATATACTGCACCGGGACCAGCCTCTATAT GATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACCGGGACC AGCCTCTATACGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACT GCACCGGGACCAGCCTCTATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0027 a0003c0027	a0003c0027t0022 a0003c0027t0022	a0003c0027t0022g0263 a0003c0027t0022g0263	1	274	0.0037	671	c.50 others(682): Show c.5051_*5052insGATTCCAGGTGTTCTATATGATTCCAGGTGTGAT ATACTGCACCGGGACCAGCCTCTATACGATTCCAGGTGTTCTATATGATT CCAGGTGTGATATACTGCACCGGGACCAGCCTCTATACGATTCCAGGTGT TCTATATGATTCCAGGTGTGATATACTGCACCGGGACCAGCCTCTATACG ATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACGGGGACCA GCCTCTATACGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTG CACCGGGACCAGCCTCTATATGATTCCAGGTGTTCTATATGATTCCAGGT GTGATATACTGCACCGGGACCAGCCTCTATATGATTCCAGGTGTTCTATA TGATTCCAGGTGTGATATACTGCATGGGGACCAGCCTCTATACAATTCCA GGTGTTCTATATGATTCCAGGTGTGATATACTGCACCGGGACCAGCCTCT ATACGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACCGG GACCAGCCTCTATATGATTCCAGGTGTTCTATATGATTCCAGGTGTGATA TACTGCACCGGGACCAGCCTCTATACGATTCCAGGTGTTCTATATGATTC CAGGTGTGATATACTGCACCGGGACCAGCCTCTATAC	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding		4642		chr7	TogoVar
EFNA2_chr19_1280873_1306431	1282324	G G	GGGGGAAG others(664): Show GGGGGAAGAGAGTGGGAAGGGGGAGAGGGAGGGGAGGGTAAGTATGAAGG GGGAAGGAAGGAGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGAGAGAGGA AGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGGGA GGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAGGG GAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGG GGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGT GAAGGGAGGAGGGAGGGGAGGAGGGGTGTGAAGGGAGGAAGGAGGGGAGG AGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGGAGGAG GTGTGAAGGGAGGAGGGAGGGGAGGAGGAGGAGGGAGGAGAGGAGGGTGT GAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGG AGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGG GTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGGAAGG AGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGAGAGG AAGGAAGGGAGGGGGTATTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	294	0.0034	671	c.-38 others(682): Show c.-3845_-3844insGGGGAAGAGAGTGGGAAGGGGGAGAGGGAGGGGA GGGTAAGTATGAAGGGGGAAGGAAGGAGGAGGGGAGAAGGGTGGGAAAGG GAGGAAGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAG GGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGA AGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGG TGTGAAGGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAGG GAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGGTGTGAAGGG AGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGA GGAGGGAGGGAGGAGGTGTGAAGGGAGGAGGGAGGGGAGGAGGAGGAGGG AGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGT GTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGG AGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGG GTGTGAAGGGGAAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTA AAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAAT	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding		3548		chr19	TogoVar
EFNA2_chr19_1280873_1306431	1282406	A A	AAGGAGGA others(664): Show AAGGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAA GGAGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGT GTGAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGG AGGGTGTGAAGGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAG GAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAG GGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGGAGGAGGG GAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGG AGGGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGA GGGTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGG GAGGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAG GAGGGTGTGAAGGGAAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGT GTAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAATGGGGAAGAGA GTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGGGGAAGGAAGGA GGGAGGGGAGAAGGGTGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	294	0.0034	671	c.-37 others(682): Show c.-3763_-3762insAGGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGG AAGGTGTGAAGGGAAGGAGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGG AGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGG AGGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGGGGAGGGTGTGAAGG GAAGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGG GAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGA AGGGAGGGAGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGG AGGGGAGGAGGGAGGAGGGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGG GGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGG AGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAG GGAGGAGGGAGGGAGGAGGGTGTGAAGGGAAGGAGGGAGGGGAGGATTGG AAAGGGGAGGAAGGTGTAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTA TTAATGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATG AAGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAG	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding		3466		chr19	TogoVar
FAM120B_chr6_170301758_170412067	170377480	T T	TCCCAGAC others(664): Show TCCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACA CGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGG TGCTGTGCACACGCGTCCCTAATCCCAGACGCCCGGGAGAGCACCGGCTC ACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCGGGAG AACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAG ACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTC CCTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGT GCACACGCGTCCCTAATCCCAGACGCCCGGGAGAACACAGGCTCACGCTG CTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCGGGAGAACACA GGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCC GGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAA CCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACAC GCGTCCCTAATCCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGT GCTGTGCACACGCGTCCCTGAA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18964.hp2 NA19074.hp2 NA18612.hp2 NA18964.hp2 NA19074.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0117 a0002c0003t0002g0122 a0002c0003t0002g0124 a0002c0003t0002g0117 a0002c0003t0002g0122 a0002c0003t0002g0124	3	289	0.0104	671	c.228 others(692): Show c.2284-10801_2284-10800insCGCCCGGGAGAACACAGGCTCACG CTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAAC ACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACG CCCGGGAGAGCACCGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCT AATCCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCA CACGCGTCCCTAATCCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTC GGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGGC TCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCGGG AGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCC AGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCG TCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCT GTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCACGC TGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCGGGAGAACA CAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTGAACCCAGA	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170377620	G G	GCACCGGC others(664): Show GCACCGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGA CGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCC CTAATCCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTG CACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGC TCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCGGGAGAACACAG GCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCG GGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAAC CCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACG CGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTG CTGTGCACACGCGTCCCTAATCCCAGACGCCCGGGAGAACACAGGCTCAC GCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAA CACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGAC GCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCC TAAACCCAGACGCCCGGGAGAA	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0021 a0002c0003t0021	a0002c0003t0021g0113 a0002c0003t0021g0113	1	289	0.0035	671	c.228 others(692): Show c.2284-10664_2284-10663insCGGCTCACGCTGCTCGGTGCTGTG CACACGCGTCCCTAATCCCAGACGCCCGGGAGAACACAGGCTCACGCTGC TCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCGGGAGAACACAG GCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCG GGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATC CCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACG CGTCCCTAATCCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTG CTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCAC GCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAA CACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGAC GCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCC TAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGC ACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCT CGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAACAC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar

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