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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(413): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG ATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAG GGATGGGAGGGAGGGAGGGAAGGAAAGGAGGAGGGACGGGAGGGAGAGAA GGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0052 a0001c0043t0052	a0001c0043t0052g0124 a0001c0043t0052g0124	1	228	0.0044	420	c.259 others(441): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC TCTCCCTCCCGTCCCTCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTC CTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCCTTTCCTT CCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCC TCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCC CTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTT CCCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCCATCCCTCCT TTCCTTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCTCTC CTTTCCTTCCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21						chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(413): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG GGATGGGAGGGTGGGAAGGAAAGGAGGGATGGGAGGGTGGGAGAGAAGGA AAGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGG GAAGGAAAGGAGGGATGGGATGGAGGGAGGGAAGGAAAGGAGGGATGGGA TGGAGGGAGGGAAGGAAAGGAGGGATGGGATGGAGGGAGGGAAGGAAAGG AGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGATGGAGGGAGGGAAGG AAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAG GGAGGGAAGGAAAGGAGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAA GGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0002 a0002c0029t0002	a0002c0029t0002g0067 a0002c0029t0002g0067	1	228	0.0044	420	c.259 others(441): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCCTTTCCTTCCCTCCCTC CCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCT TCCCTCCCTCCATCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCTCCT TTCCTTCCCTCCCTCCATCCCATCCCTCCTTTCCTTCCCTCCCTCCATCC CATCCCTCCTTTCCTTCCCTCCCTCCATCCCATCCCTCCTTTCCTTCCCT CCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCTTTCC TTCTCTCCCACCCTCCCATCCCTCCTTTCCTTCCCACCCTCCCATCCCTC CTTTCCTTCCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21						chr15	TogoVar
ADAMTS2_chr5_179105853_179350461	179277906	C C	CCCCCCCC others(413): Show CCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCC CCCGCGAGACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACACCCCC CGAGACCAAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCGCCCCCGAG ACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACC AAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAAA GGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGCT GACCCCCCCCCGAGACCAAAGGCTGACCCCCCCCCGAGACCAAAGGCTGA CCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCC CCCCGCGAGACCAAAGGCTGA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0269 a0003c0003t0002g0269	1	276	0.0036	420	c.535 others(437): Show c.535-4843_535-4842insTCAGCCTTTGGTCTCGCGGGGGGGTCAG CCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCT TTGGTCTCGGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGTCAGCCTTT GGTCTCGCGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTC TCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCG CGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGG GCGGTCAGCCTTTGGTCTCGGGGGCGGTCAGCCTTTGGTCTCGGGGGGTG TCAGCCTTTGGTCTCGGAGGGGGTCAGCCTTTGGTCTCGCGGGGGCGTCA GCCGTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGG		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21						chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277979	C C	CCTCCGAG others(413): Show CCTCCGAGACCAAAGGCTGACACCCCCCGAGACCAAAGGCTGACCGCCCC CGAGACCAAAGGCTGACCCCCCCGTGAGACCAAAGGCTGACCCCCCCCGA GACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCGCGAGA CCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAA AGGCTGACCCCCCGCGAGACCAAAGGCTGACCCCCCCCCGAGACCAAAGG CTGACCCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTG ACCCCCCCGCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGAC CCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCC CGCGAGACCAAAGGCTGACCC	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA19240.hp1 HG02723.hp1 NA19240.hp1	a0004 a0004	a0004c0039 a0004c0111 a0004c0039 a0004c0111	a0004c0039t0002 a0004c0111t0004 a0004c0039t0002 a0004c0111t0004	a0004c0039t0002g0204 a0004c0111t0004g0211 a0004c0039t0002g0204 a0004c0111t0004g0211	2	276	0.0073	420	c.535 others(437): Show c.535-4916_535-4915insGGGTCAGCCTTTGGTCTCGCGGGGGGTC AGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCC TTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTT TGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGTCAGCCTTTGG TCTCGGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGTCAGCCTTTGGTCT CGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGCG GGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGG GGGTCAGCCTTTGGTCTCACGGGGGGGTCAGCCTTTGGTCTCGGGGGCGG TCAGCCTTTGGTCTCGGGGGGTGTCAGCCTTTGGTCTCGGAG		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21						chr5	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(413): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAG GGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGG AGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGG GGGGAGGAGGGGGGAGGGGGAGAGGGGAGGAGAGGGAGGGGGAGGAGGGA AGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGG GAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGG GAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGG GGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0096 a0001c0001t0007g0096	1	352	0.0028	420	c.51 others(431): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCTCTCCTCCCCTCTCCCCCTCCCCCCTCCTCCCCCCCTCCCCTCCTC CCTCCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCC CCCCTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCC CCCTCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCTCCCCCTCCCCC CTCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC		ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding					4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(413): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAG GAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGG AGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGG AAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGGACGGG GGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	420	c.51 others(431): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCCTCC TCCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCC TCCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCTCCCCCT TCCCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCC CCTCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCC CTCCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCC CCCTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCC CCTCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCC CTCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC		ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding					4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(413): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGGAGGGGGAGGAGGGAA GGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGG AGGAGGGGAGGAGGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGG GAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGG GGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	352	0.0028	420	c.51 others(431): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCCTCCTCCCCTCCTCCCCCTCCCCCTT CCCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCC CTCCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCC CTCCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCC CCCTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCC CCTCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCC CTCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC		ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding					4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(413): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGGAGGAGGGGG GGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAG GGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAA GGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGG AGGAGGGGAGGAGGGGAGGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGG GAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGG GGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	420	c.51 others(431): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTT CCCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCC CTCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCC TCCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCC CCCTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCC CCTCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCC CTCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC		ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding					4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(413): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGG GGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAG GGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGA AGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGG GAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGG GAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGG GGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	352	0.0028	420	c.51 others(431): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCCTCCCCTCCTCCC TCCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCC CCTCCCCTCCTCCCTCCTCCCCCTCCCCCCTCCCCCCTCCCCTCCTCCCC CCTCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCC CTCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC		ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding					4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(413): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGGA GGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGG GGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGGA GGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGA AGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGG GAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGG GAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGG GGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	420	c.51 others(431): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCCTCCTCCC TCCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCC CCTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCC CTCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCCTCCCCC CTCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC		ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding					4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(413): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGGAGGGGGGAGGGGGA GGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGG GGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGA GGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGA AGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGG GAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGG GAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGG GGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0071	1	352	0.0028	420	c.51 others(431): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCT CCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCC CTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCCTCCCCTCCTCCCCC CTCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCC TCCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC		ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding					4172		chr19	TogoVar
ADAP1_chr7_892900_959680	906277	G G	GGAAAGGA others(413): Show GGAAAGGAAAAGGAGAAAGGGAAAGGAGAGAAAGGAAAGGAGAAAGGAGA AAGGAAGGAAAGGAGAAAGGAGAAAGGGAAAGGAGAAAGGGAAAAGGAGA AAGGAGAAAGGAGAAAGGAGAAAGGAGAAGGGAGAAGGAGAAAGGAGAAA GGAAGAAAGGGAAAGGGGAAAGGAGGGAAAGGAGAAAGGGAAAGGGAAAG GAGAAAGGAGAAAGGAGAAAGGAGAAAGGGAAAGGAGAAAGGGAAAGGAA GGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAAAGGAGAAAGGA GAAAGGAGAAAGGAGAAAGGAGAAAGGGAAAGGAGAAAGAGAAAGGAGAA AGGGAAAGGAGAAAGGAGAAAGGGGAAAGGAGAAAGGGAAAGGAGAAAGG AGAAAGGAAAGGAAAGGGAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	14	0.0714	420	c.389 others(437): Show c.389-1106_389-1105insTTTCCCTTTCCTTTCCTTTCTCCTTTCT CCTTTCCCTTTCTCCTTTCCCCTTTCTCCTTTCTCCTTTCCCTTTCTCCT TTCTCTTTCTCCTTTCCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTC TCCTTTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTCCTTT CCCTTTCTCCTTTCCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCCC TTTCCCTTTCTCCTTTCCCTCCTTTCCCCTTTCCCTTTCTTCCTTTCTCC TTTCTCCTTCTCCCTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTT TTCCCTTTCTCCTTTCCCTTTCTCCTTTCTCCTTTCCTTCCTTTCTCCTT TCTCCTTTCCTTTCTCTCCTTTCCCTTTCTCCTTTTCCTTTC		ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10						chr7	TogoVar
ADARB2_chr10_1172313_1742525	1340213	G G	GCCCCACA others(413): Show GCCCCACAGCGGCAATAACCAGCATCCACCAGAGAACCACGTGCCCCACA GCGGCAATAACCAGCATCCACCAGAGAACCACGCGCCCCACAGCGGCAAT AACCAGCATCCACCAGAGAACCACGCGCCCCACAGCGGCAATAACCGGCA TCCACCAGAGAACCACGCGCCCCACAGCGGCAATAACCGGCATCCACCAG AGAACCACACACCCCACAGCGGCAATAACCGGCATCCACCAGAGAACCAC GTGCCCCACAGCGGCAATAACCGGCATCCACCAGAGGACCACACACCCCA CAGCGGCAATAACCAGCATCCACCAGAGAACCACGTGCCCCACAGCGGCA ATAACCGGCATCCACCAGAGAACCACACACCCCACAGCGGCAATAACCGG CATCCACCAGAGAACCACACA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp1 HG02630.hp2 others(2): Show HG02145.hp2 HG02615.hp1 HG02630.hp2 HG03540.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0014	a0001c0001t0049 a0001c0003t0001 a0002c0002t0008 others(1): Show a0001c0001t0049 a0001c0003t0001 a0002c0002t0008 a0002c0014t0008	a0001c0001t0049g0040 a0001c0003t0001g0052 a0001c0003t0001g0070 others(2): Show a0001c0001t0049g0040 a0001c0003t0001g0052 a0001c0003t0001g0070 a0002c0002t0008g0042 a0002c0014t0008g0060	5	106	0.0472	420	c.107 others(441): Show c.1077+22814_1077+22815insTGTGTGGTTCTCTGGTGGATGCCG GTTATTGCCGCTGTGGGGTGTGTGGTTCTCTGGTGGATGCCGGTTATTGC CGCTGTGGGGCACGTGGTTCTCTGGTGGATGCTGGTTATTGCCGCTGTGG GGTGTGTGGTCCTCTGGTGGATGCCGGTTATTGCCGCTGTGGGGCACGTG GTTCTCTGGTGGATGCCGGTTATTGCCGCTGTGGGGTGTGTGGTTCTCTG GTGGATGCCGGTTATTGCCGCTGTGGGGCGCGTGGTTCTCTGGTGGATGC CGGTTATTGCCGCTGTGGGGCGCGTGGTTCTCTGGTGGATGCTGGTTATT GCCGCTGTGGGGCGCGTGGTTCTCTGGTGGATGCTGGTTATTGCCGCTGT GGGGCACGTGGTTCTCTGGTGGATGCTGGTTATTGCCGCTGTGGGG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1340591	G G	GCCCCACA others(413): Show GCCCCACAGCGGCAATAACCGGCATCCACCAGAGGACCACACACCCCACA GCGGCAATAACCAGCATCCACCAGAGAACCACGTGCCCCACAGCGGCAAT AACCGGCATCCACCAGAGAACCACACACCCCACAGCAGCAATAACCAGCA TCCACCAGAGAACCACGCGCCCCACAGCGGCAATAACCAGCATCCACCAG AGAACCACACACCCCACAGCGGCAATAACCAGCATCCACCAGAGAACCAC GTGCCCCACAGCGGCAATAACCGGCATCCACCAGAGAACCACACACCCCA CAGCGGCAATAACCAGCATCCACCAGAGAACCACACACCCCACAGCGGCA ATAACCGGCATCCACCAGAGAACCACGCGCCCCACAGCGGCAATAACCAG CATCCACCAGAGAACCACACA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02735.hp2 HG02886.hp1 others(1): Show HG02027.hp1 HG02735.hp2 HG02886.hp1 HG03540.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0007 a0002c0002 a0008c0013 a0001c0007 a0002c0002 a0008c0013	a0001c0007t0066 a0002c0002t0002 a0002c0002t0064 others(1): Show a0001c0007t0066 a0002c0002t0002 a0002c0002t0064 a0008c0013t0020	a0001c0007t0066g0105 a0002c0002t0002g0066 a0002c0002t0064g0100 others(1): Show a0001c0007t0066g0105 a0002c0002t0002g0066 a0002c0002t0064g0100 a0008c0013t0020g0037	4	106	0.0377	420	c.107 others(441): Show c.1077+22436_1077+22437insTGTGTGGTTCTCTGGTGGATGCTG GTTATTGCCGCTGTGGGGCGCGTGGTTCTCTGGTGGATGCCGGTTATTGC CGCTGTGGGGTGTGTGGTTCTCTGGTGGATGCTGGTTATTGCCGCTGTGG GGTGTGTGGTTCTCTGGTGGATGCCGGTTATTGCCGCTGTGGGGCACGTG GTTCTCTGGTGGATGCTGGTTATTGCCGCTGTGGGGTGTGTGGTTCTCTG GTGGATGCTGGTTATTGCCGCTGTGGGGCGCGTGGTTCTCTGGTGGATGC TGGTTATTGCTGCTGTGGGGTGTGTGGTTCTCTGGTGGATGCCGGTTATT GCCGCTGTGGGGCACGTGGTTCTCTGGTGGATGCTGGTTATTGCCGCTGT GGGGTGTGTGGTCCTCTGGTGGATGCCGGTTATTGCCGCTGTGGGG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9						chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111457	A A	AACCTGCC others(413): Show AACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCC CACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGG GCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGGCACCTCC CTCCTAATCCCCCCAGACCACCTGCCCGCCACGGGCACCTCCCTCCTAAT CCCACCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAG ACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACAACCTG CCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCGCCAC GGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCT CCCTCCTAATCCCTCCAGACC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0004 a0001c0019t0004	a0001c0019t0004g0225 a0001c0019t0004g0225	1	368	0.0027	420	c.401 others(437): Show c.401+8628_401+8629insAGGCACCTCCCTCCTAATCCCACCAGAC CACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCC CACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAG GCACCTCCCTCCTAATCCCCCCAGACCACCTGCCCGCCACGGGCACCTCC CTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCCCTCCTAAT CCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAG ACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTG CCCGCCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCAC AGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCAC		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111471	G G	GGGCACCT others(413): Show GGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCCCCCGGGAACCAT CCCTCCTAATCCCACCAGACCACCTGCCCACCACGGACACCTCCCTCCTA ATCCCTCCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACC AGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACC TGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACC ACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACAC CTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCC TAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCA CCAGACCACCTGCCCACCACA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0083 a0001c0001t0017g0083	1	368	0.0027	420	c.401 others(437): Show c.401+8630_401+8631insGCACCTCCCTCCTAATCCCTCCAGACCA CCTGCCCCCCCGGGAACCATCCCTCCTAATCCCACCAGACCACCTGCCCA CCACGGACACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACGGAC ACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCCCT CCTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCC CACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGAC AACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCC CACCACGGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAG ACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAG		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111515	A A	ACACCTCC others(413): Show ACACCTCCCTCCTAATGCCTCCAGACCACCTGCCCACCACAGACACCTCC CTCCTAATGCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAAT CCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATGCCTCCAG ACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTG CCCACCACAGGCACCTCCCTCCTAATGCCTCCAGACCACCTGCCCACCAC GGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCT CCCTCCTAATGCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTA ATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCC AGACCACCTGCCCACCACGGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0044 a0001c0003t0044	a0001c0003t0044g0034 a0001c0003t0044g0034	1	368	0.0027	420	c.401 others(437): Show c.401+8688_401+8689insGCCTCCAGACCACCTGCCCACCACAGAC ACCTCCCTCCTAATGCCTCCAGACCACCTGCCCACCACAGGCACCTCCCT CCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATGC CTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGAC CACCTGCCCACCACAGGCACCTCCCTCCTAATGCCTCCAGACCACCTGCC CACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAG GCACCTCCCTCCTAATGCCTCCAGACCACCTGCCCACCACAGACACCTCC CTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAAT CCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAAT		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111744	A A	ACCAGACC others(413): Show ACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACC ACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCC ACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGG CACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCC TCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATC CCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGA CCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGC CCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACG GGCACCTCCCTCCTAATGCCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0069 a0001c0002t0069	a0001c0002t0069g0153 a0001c0002t0069g0153	1	368	0.0027	420	c.401 others(437): Show c.401+8908_401+8909insCACCTGCCCACCACGGGCACCTCCCTCC TAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCT CCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCA CCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCA CCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGC ACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCT CCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCC CACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGAC CACCTGCCCACCACGGGCACCTCCCTCCTAATGCCTCCAGAC		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111867	C C	CCCTCCAG others(413): Show CCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAG ACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTG CCCACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCAC GGACACCTCCCTCCTAATGCCTCCAGACCACCTGCCCGCCGTGAGCACCT CCCTCCTAATCCCACCAGACCACCTGCCCGCCACAGACACCTCCCTCCTA ATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCCCC AGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAACC TGCCCACCACGGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACC ACAGACACCTCCCTCCTAATG	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0343 a0001c0001t0052g0343	1	368	0.0027	420	c.401 others(437): Show c.401+9048_401+9049insGGGCACCTCCCTCCTAATCCCACCAGAC AACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCC CACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGG ACACCTCCCTCCTAATGCCTCCAGACCACCTGCCCGCCGTGAGCACCTCC CTCCTAATCCCACCAGACCACCTGCCCGCCACAGACACCTCCCTCCTAAT CCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCCCCAG ACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTG CCCACCACGGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCAC AGACACCTCCCTCCTAATGCCTCCAGACCACCTGCCCACCAC		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111919	C C	CACCTGCC others(413): Show CACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCC CACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGG GCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCC CTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAAT CCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAG ACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTG CCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCCCCCG GGAACCATCCCTCCTAATCCCACCAGACCACCTGCCCGCCACGGGCACCT CCCTCCTAATCCCACCAGACA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0227 a0001c0002t0001g0227	1	368	0.0027	420	c.401 others(437): Show c.401+9085_401+9086insACCACGGGCACCTCCCTCCTAATCCCAC CAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAAC CTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCAC CACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCA CCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTC CTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCC ACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACA ACCTGCCCCCCCGGGAACCATCCCTCCTAATCCCACCAGACCACCTGCCC GCCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCC		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133112019	A A	ACACCTCC others(413): Show ACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCC CTCCTAATCCCACCAGACAACCTGCCCGCCACAGACACCTCCCTCCTAAT CCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAG ACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTG CCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCAC GGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCT CCCTCCTAATCCCACCAGACAACCTGCCCACCACAGGCACCTCCCTCCTA ATCCCTCCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACC AGACCACCTGCCCACCATGGG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0011 a0001c0010t0011	a0001c0010t0011g0050 a0001c0010t0011g0050	1	368	0.0027	420	c.401 others(437): Show c.401+9192_401+9193insCCCACCAGACAACCTGCCCACCACAGAC ACCTCCCTCCTAATCCCACCAGACAACCTGCCCGCCACAGACACCTCCCT CCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCC CACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGAC AACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCC CACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGG ACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGGCACCTCC CTCCTAATCCCTCCAGACAACCTGCCCACCACGGACACCTCCCTCCTAAT CCCACCAGACCACCTGCCCACCATGGGCACCTCCCTCCTAAT		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133112019	A A	ACACCTCC others(413): Show ACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCC CTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAAT CCCACCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAG ACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTG CCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCAC AGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCT CCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCCCTCCTA ATCCCTCCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCACC AGACCACCTGCCCGCCGTGAG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0315 a0001c0001t0021g0315	1	368	0.0027	420	c.401 others(437): Show c.401+9192_401+9193insCCCACCAGACAACCTGCCCACCACAGAC ACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCT CCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCC CTCCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGAC CACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCC CACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGG GCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCC CTCCTAATCCCTCCAGACAACCTGCCCACCACAGACACCTCCCTCCTAAT CCCACCAGACCACCTGCCCGCCGTGAGCACCTCCCTCCTAAT		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(413): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTTCTCCTTCTTCCTTCTTCTTCCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	188	0.0053	420	c.-1- others(435): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG GAAGAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAAGAAGAA		ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28						chrX	TogoVar
ADGRG2_chrX_18984307_19127468	19074563	T T	TTCTCCTT others(413): Show TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	188	0.0053	420	c.-1- others(435): Show c.-1-5729_-1-5728insGAAGAAGAAGAAGAAGAAGAGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGGAAGAAGAAGGAAGAAGGAGAAGAAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA		ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28						chrX	TogoVar
ADPRHL1_chr13_113394611_113458488	113418980	T T	TTCCCTCC others(413): Show TTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCC CTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCTTCACTCCCTCCCTCC CTTCCTTCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTC CTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTC TTTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTTCCTTT CTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCT CCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCT TCCTTCTTTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0048 a0048	a0048c0026 a0048c0026	a0048c0026t0032 a0048c0026t0032	a0048c0026t0032g0141 a0048c0026t0032g0141	1	262	0.0038	420	c.106 others(439): Show c.1061+3845_1061+3846insGGGAGGGAAGGAAAAGAAGGAAGGGA AGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGA GGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGG AAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGG AAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGAAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGG GAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGAAGGAAGGGAGG GAGGGAGTGAAGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAA GAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA		ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7						chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113419038	C C	CCCCTTCC others(413): Show CCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTT CCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCC CCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCTTC CCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCCTTCCTTCTTTTCCTTCC CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCCT TCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TTCCTTTCTTCCCCTTCCCCT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0027 a0003c0003t0008g0027	1	262	0.0038	420	c.106 others(439): Show c.1061+3787_1061+3788insAGGGGAAGGGGAAGAAAGGAAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGA GGGGAAGGGGAAGAAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAG GAAAAGAAGGAAGGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGG GAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAAGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGG GGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAAGGA AAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGG		ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7						chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113419038	C C	CCCCTTCC others(413): Show CCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCT CCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTC CTTTCTTCCCCTTCCCCTCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTC CCTCCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTTCCT TTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCTTCACTCC CTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCT TCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TTCCTTTCTTCCCCTTCCCCT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0094 a0003c0003t0094	a0003c0003t0094g0074 a0003c0003t0094g0074	1	262	0.0038	420	c.106 others(439): Show c.1061+3787_1061+3788insAGGGGAAGGGGAAGAAAGGAAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGA GGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGT GAAGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAA GGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGGAGGGAGGG AGGGAAGGAAAAGAAGGAAGGGAAGGGAGGGGAAGGGGAAGAAAGGAAGG AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGA AGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGG GAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGG		ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7						chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113435614	G G	GTAGGGTG others(413): Show GTAGGGTGAACATAGGTGTACCCCGGGACCTGGCACCCAGGTGCAGGGTG AATACAGGTGTACCCCGGGACCCAGCACCCACATGTAGAGTGAACATAGG TGTACCCCGGGACCCAGCACCCAGGCACCGAGTGAACATAGGTGTACCCT GGGACCCAGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCGGGACCCA GCATCCACACGTAGAGTGAACACAGGTGTACCCCGGGACCCGGCACCCAG GCGCAGGGTGAACATAGGTGTACCCCGGGACCCAGCATCCACACGTAGAG TGAACACAGGTGTACCCCGGGACCCGGCACCCAGGCGCAGGGTGAACATA GGTGTACCCCGGGACCCAGCATCCACATGTAGAGTGAACACAGGTGTACC CTGGGACCCGGCACCCAGGTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0093 a0005c0006t0004g0093	1	262	0.0038	420	c.380 others(437): Show c.380-1748_380-1747insAACCTGGGTGCCGGGTCCCAGGGTACAC CTGTGTTCACTCTACATGTGGATGCTGGGTCCCGGGGTACACCTATGTTC ACCCTGCGCCTGGGTGCCGGGTCCCGGGGTACACCTGTGTTCACTCTACG TGTGGATGCTGGGTCCCGGGGTACACCTATGTTCACCCTGCGCCTGGGTG CCGGGTCCCGGGGTACACCTGTGTTCACTCTACGTGTGGATGCTGGGTCC CGGGGTACACCTATGTTCACTCTACACCTGGGTGCTGGGTCCCAGGGTAC ACCTATGTTCACTCGGTGCCTGGGTGCTGGGTCCCGGGGTACACCTATGT TCACTCTACATGTGGGTGCTGGGTCCCGGGGTACACCTGTATTCACCCTG CACCTGGGTGCCAGGTCCCGGGGTACACCTATGTTCACCCTA		ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7						chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113436099	C C	CGGGACCC others(413): Show CGGGACCCGGCACCCAGGCGCAGGGTGAACATAGGTGTACCCCGGGACCC AGCATCCACACGTAGAGTGAACACAGGTGTACCCCGGGACCCGGCACCCA GGTGTAGAGTGAACATAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGA GTGAACATAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACAT AGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACACAGGTGTAC CCCGGGACCCAGCACCCAGGTGTAGGGTGAACATAGGTGTACCCCGGGAC CCGGCACCCAGGTGCAGGGTGAATACAGGTGTACCCCGGGACCCAGCACC CACATGTAGAGTGAACATAGGTGTACCCCGGGACCCAGCACCCAGGCACA GAGTGAACATAGGTGTACCCT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02135.hp1 HG02074.hp1 HG02135.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0080 a0001c0001t0001 a0002c0002t0080	a0001c0001t0001g0166 a0002c0002t0080g0020 a0001c0001t0001g0166 a0002c0002t0080g0020	2	262	0.0076	420	c.380 others(437): Show c.380-2233_380-2232insAGGGTACACCTATGTTCACTCTGTGCCT GGGTGCTGGGTCCCGGGGTACACCTATGTTCACTCTACATGTGGGTGCTG GGTCCCGGGGTACACCTGTATTCACCCTGCACCTGGGTGCCGGGTCCCGG GGTACACCTATGTTCACCCTACACCTGGGTGCTGGGTCCCGGGGTACACC TGTGTTCACTCTACACCTGGGTGCCGGGTCCCGGGGTACACCTATGTTCA CTCTACACCTGGGTGCCGGGTCCCGGGGTACACCTATGTTCACTCTACAC CTGGGTGCCGGGTCCCGGGGTACACCTATGTTCACTCTACACCTGGGTGC CGGGTCCCGGGGTACACCTGTGTTCACTCTACGTGTGGATGCTGGGTCCC GGGGTACACCTATGTTCACCCTGCGCCTGGGTGCCGGGTCCC		ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7						chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113436718	T T	TAGGTGTA others(413): Show TAGGTGTACCCCGGAACCCAGCACCCAGGCACAGAGTGAACATAGGTGTA CCCTGGGACCCAGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCGGGA CCCAGCATCCACACGTAGAGTGAACACAGGTGTACCCCGGGACCCGGCAC CCAGGCGCAGGGTGAACATAGGTGTACCCCGGGACCCAGCATCCACACGT AGAGTGAACACAGGTGTACCCCGGGACCCGGCACCCAGGCGCAGGGTGAA CATAGGTGTACCCCGGGACCCAGCATCCACACGTAGAGTGAACACAGGTG TACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCAG GACCCGGCACCCACGCATAGAGTGAACGTAGGTGTACCCTGTGACCCAGC ACCCACACGTAGAGTGAACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00673.hp2 others(54): Show HG00099.hp2 HG00280.hp2 HG00673.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01515.hp2 HG01516.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp2 HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02615.hp2 HG02738.hp1 HG02922.hp2 HG02965.hp1 HG03130.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03831.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18952.hp2 NA18963.hp1 NA18966.hp2 NA19057.hp1 NA19066.hp2 NA19074.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0010 a0011 a0013 a0028 a0031 a0035 a0043 a0046 a0050	a0001c0001 a0002c0002 a0002c0012 others(15): Show a0001c0001 a0002c0002 a0002c0012 a0003c0003 a0004c0005 a0004c0008 a0005c0006 a0007c0009 a0008c0013 a0010c0010 a0011c0018 a0013c0016 a0028c0039 a0031c0034 a0035c0046 a0043c0031 a0046c0029 a0050c0023	a0001c0001t0001 a0001c0001t0018 a0002c0002t0002 others(29): Show a0001c0001t0001 a0001c0001t0018 a0002c0002t0002 a0002c0002t0003 a0002c0002t0073 a0002c0002t0078 a0002c0002t0079 a0002c0012t0003 a0003c0003t0008 a0003c0003t0094 a0003c0003t0095 a0003c0003t0096 a0004c0005t0100 a0004c0005t0102 a0004c0005t0106 a0004c0008t0012 a0004c0008t0101 a0004c0008t0107 a0005c0006t0004 a0007c0009t0011 a0008c0013t0035 a0008c0013t0036 a0008c0013t0039 a0010c0010t0010 a0011c0018t0002 a0013c0016t0014 a0028c0039t0086 a0031c0034t0031 a0035c0046t0085 a0043c0031t0070 a0046c0029t0002 a0050c0023t0071	a0001c0001t0001g0017 a0001c0001t0001g0125 a0001c0001t0001g0168 others(54): Show a0001c0001t0001g0017 a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0001g0231 a0001c0001t0018g0126 a0002c0002t0002g0092 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0111 a0002c0002t0002g0123 a0002c0002t0002g0128 a0002c0002t0002g0130 a0002c0002t0002g0167 a0002c0002t0002g0170 a0002c0002t0002g0189 a0002c0002t0002g0205 a0002c0002t0002g0218 a0002c0002t0002g0224 a0002c0002t0003g0023 a0002c0002t0003g0084 a0002c0002t0003g0095 a0002c0002t0003g0143 a0002c0002t0003g0181 a0002c0002t0003g0238 a0002c0002t0073g0137 a0002c0002t0078g0232 a0002c0002t0079g0150 a0002c0012t0003g0148 a0002c0012t0003g0149 a0003c0003t0008g0236 a0003c0003t0094g0074 a0003c0003t0095g0194 a0003c0003t0096g0193 a0004c0005t0100g0080 a0004c0005t0102g0254 a0004c0005t0106g0192 a0004c0008t0012g0010 a0004c0008t0012g0011 a0004c0008t0101g0008 a0004c0008t0107g0013 a0005c0006t0004g0180 a0007c0009t0011g0116 a0007c0009t0011g0121 a0007c0009t0011g0173 a0008c0013t0035g0078 a0008c0013t0036g0015 a0008c0013t0039g0069 a0010c0010t0010g0144 a0010c0010t0010g0145 a0011c0018t0002g0227 a0013c0016t0014g0101 a0028c0039t0086g0171 a0031c0034t0031g0067 a0035c0046t0085g0169 a0043c0031t0070g0018 a0046c0029t0002g0245 a0050c0023t0071g0014	57	262	0.2176	420	c.380 others(437): Show c.380-2852_380-2851insGTGTTCACTCTACGTGTGGGTGCTGGGT CACAGGGTACACCTACGTTCACTCTATGCGTGGGTGCCGGGTCCTGGGGT ACACCTATGTTCACTCTACACCTGGGTGCCGGGTCCCGGGGTACACCTGT GTTCACTCTACGTGTGGATGCTGGGTCCCGGGGTACACCTATGTTCACCC TGCGCCTGGGTGCCGGGTCCCGGGGTACACCTGTGTTCACTCTACGTGTG GATGCTGGGTCCCGGGGTACACCTATGTTCACCCTGCGCCTGGGTGCCGG GTCCCGGGGTACACCTGTGTTCACTCTACGTGTGGATGCTGGGTCCCGGG GTACACCTATGTTCACTCTACACCTGGGTGCTGGGTCCCAGGGTACACCT ATGTTCACTCTGTGCCTGGGTGCTGGGTTCCGGGGTACACCT		ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7						chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113436718	T T	TAGGTGTA others(413): Show TAGGTGTACCCCGGAACCCAGCACCCAGGCACAGAGTGAACATAGGTGTA CCCTGGGACCCAGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCGGGA CCCAGCATCCACACGTAGAGTGAACACAGGTGTACCCCGGGACCCGGCAC CCAGGCGCAGGGTGAACATAGGTGTACCCCGGGACCCAGCATCCACACGT AGAGTGAACACAGGTGTACCCCGGGACCCGGCACCCAGGCGCAGGGTGAA CATAGGTGTACCCCGGGACCCAGCATCCACACGTAGAGTGAACACAGGTG TACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCAG GACCCGGCACCCACGCATAGAGTGAACGTAGGTGTACCCTGTGACCCAGC ACCCACATGTAGAGTGAACAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0030 a0009c0011t0030	a0009c0011t0030g0196 a0009c0011t0030g0196	1	262	0.0038	420	c.380 others(437): Show c.380-2852_380-2851insGTGTTCACTCTACATGTGGGTGCTGGGT CACAGGGTACACCTACGTTCACTCTATGCGTGGGTGCCGGGTCCTGGGGT ACACCTATGTTCACTCTACACCTGGGTGCCGGGTCCCGGGGTACACCTGT GTTCACTCTACGTGTGGATGCTGGGTCCCGGGGTACACCTATGTTCACCC TGCGCCTGGGTGCCGGGTCCCGGGGTACACCTGTGTTCACTCTACGTGTG GATGCTGGGTCCCGGGGTACACCTATGTTCACCCTGCGCCTGGGTGCCGG GTCCCGGGGTACACCTGTGTTCACTCTACGTGTGGATGCTGGGTCCCGGG GTACACCTATGTTCACTCTACACCTGGGTGCTGGGTCCCAGGGTACACCT ATGTTCACTCTGTGCCTGGGTGCTGGGTTCCGGGGTACACCT		ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7						chr13	TogoVar
AGMO_chr7_15195317_15567015	15529882	G G	GATATTCT others(413): Show GATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCA TATAGATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATT TCCATATAGATATTCTATATACGTATTTCCATATAGATATTCTATATACG TATTTCCATATAGATATTCTATATACGTATTTCCATATAGATATTCTATA TACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGATATTC TATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGAT ATTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATAT AGATATTCTATATACGTATTTCCATATATTCTATATACGTATTTCCATAT ATTCTATATACGTATTTCCAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0216 a0001c0001t0003g0216	1	236	0.0042	420	c.409 others(439): Show c.409+14889_409+14890insATGGAAATACGTATATAGAATATATG GAAATACGTATATAGAATATATGGAAATACGTATATAGAATATCTATATG GAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATATCTA TATGGAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATA TCTATATGGAAATACGTATATAGAATATCTATATGGAAATACGTATATAG AATATCTATATGGAAATACGTATATAGAATATCTATATGGAAATACGTAT ATAGAATATCTATATGGAAATACGTATATAGAATATCTATATGGAAATAC GTATATAGAATATCTATATGGAAATACGTATATAGAATATCTATATGGAA ATACGTATATAGAATATCTATATGGAAATACGTATATAGAATAT		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12						chr7	TogoVar
ANKRD29_chr18_23593926_23667911	23615974	C C	CTATGTAT others(413): Show CTATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTC TACACATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGT ATGCATACTCTACACATACCGTATGTATGTATGCATACTCTACACATACC GTATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTC TACACATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGT ATGCATACTCTACACATACCGTATGTATGTATGCATACTCTACACATACC GTATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTC TACACATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGT ATGCATACTCTACACATACCG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03486.hp1 HG02280.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0022 a0001c0001t0009g0099 a0001c0001t0009g0022 a0001c0001t0009g0099	2	352	0.0057	420	c.723 others(437): Show c.723+1757_723+1758insCGGTATGTGTAGAGTATGCATACATACA TACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATG CATACATACATACGGTATGTGTAGAGTATGCATACATACATACGGTATGT GTAGAGTATGCATACATACATACGGTATGTGTAGAGTATGCATACATACA TACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATG CATACATACATACGGTATGTGTAGAGTATGCATACATACATACGGTATGT GTAGAGTATGCATACATACATACGGTATGTGTAGAGTATGCATACATACA TACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATG CATACATACATACGGTATGTGTAGAGTATGCATACATACATA		ANKRD29	ENSG00000154065.17	transcript	ENST00000592179.6	protein_coding	8/9						chr18	TogoVar
ARHGEF10_chr8_1818926_1963641	1824952	T T	TCCCCGCA others(413): Show TCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCC CACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCAC CCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCA CCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTG CACCCCACCTGTTCACCTGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0220 a0001c0003t0001g0220	1	363	0.0028	420	c.-48 others(435): Show c.-48+997_-48+998insGCACCCCACCTGTCCCTCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCA CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTC CCCTCGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACC CCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCACTCCACCTGTCCCC CCGCACTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCC		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825069	C C	CCCCGCAC others(413): Show CCCCGCACTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCG CACCCCACCTGCCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCGCACCC CACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACC TGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCAC CCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTC CCCCCACACCCCACCTGTTCA	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18974.hp2 HG02135.hp1 NA18974.hp2	a0001 a0001	a0001c0016 a0001c0071 a0001c0016 a0001c0071	a0001c0016t0012 a0001c0071t0002 a0001c0016t0012 a0001c0071t0002	a0001c0016t0012g0132 a0001c0071t0002g0131 a0001c0016t0012g0132 a0001c0071t0002g0131	2	363	0.0055	420	c.-48 others(435): Show c.-48+997_-48+998insGCACCCCACCTGTCCCTCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCA CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTC CCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCC CACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCAC CCGCACTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCC		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825116	C C	CCCACCTG others(413): Show CCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCC CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTT CACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCC ACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCC GCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACCT GTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCA CTCCACCTGTCCCCCCGCAAT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0007 a0007	a0007c0148 a0007c0148	a0007c0148t0002 a0007c0148t0002	a0007c0148t0002g0003 a0007c0148t0002g0003	1	363	0.0028	420	c.-48 others(437): Show c.-48+1003_-48+1004insCCACCTGTTCACCTGCACCCCACCTGTC CCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCC ACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCC GCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTG TCCCCCCGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACC CCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCC TCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACC TGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCA CACCCCACCTGTTCACCCGCACTCCACCTGTCCCCCCGCAAT		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28						chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825135	C C	CCCACCTG others(413): Show CCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCC CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTT CACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCC ACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCC GCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACCT GTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCA CTCCACCTGTCCCCCCGCAAT	intron_variant intron_variant	MODIFIER	HG02148.hp2 NA18967.hp2 HG02148.hp2 NA18967.hp2	a0001 a0001	a0001c0006 a0001c0156 a0001c0006 a0001c0156	a0001c0006t0001 a0001c0156t0002 a0001c0006t0001 a0001c0156t0002	a0001c0006t0001g0008 a0001c0156t0002g0007 a0001c0006t0001g0008 a0001c0156t0002g0007	2	363	0.0055	420	c.-48 others(437): Show c.-48+1030_-48+1031insTCACCTGCACCCCACCTGTCCCTCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCG CACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCC CACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCC CCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCAC CTGTTCACCCGCACTCCACCTGTCCCCCCGCAATCCACCTGT		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(413): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGGCTGA GGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGA CTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCT GGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GACTGAGGCTGGGGCTGGGGCTGAGGTTGAGGCTGGGGCTGGGGCTGAGG TTGGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCT AGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGA GGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGG CTGAGGCTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00438.hp2 HG01346.hp1 HG01884.hp1 others(17): Show HG00438.hp2 HG01346.hp1 HG01884.hp1 HG01934.hp1 HG01993.hp2 HG02129.hp1 HG02145.hp1 HG02559.hp2 HG02647.hp1 HG02809.hp1 HG02970.hp2 HG03225.hp1 HG03239.hp2 HG03540.hp2 HG03704.hp1 HG03834.hp1 HG03927.hp2 NA18747.hp1 NA18975.hp1 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0004 a0003c0003t0001g0010 a0003c0003t0001g0011 others(4): Show a0003c0003t0001g0004 a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0001g0020 a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0023	20	326	0.0614	420	c.546 others(429): Show c.5461_5462insTTGGGGCTGGGGCTGGGGCTGAGGCTGAGGCTGGGG CTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGG GGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGG CTGGGGCTGGGGCTGAGGTTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCT GGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGA GGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGG CTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCT GGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Gly others(435): Show p.Gly1820_Ala1821insValGlyAlaGlyAlaGlyAlaGluAlaGlu AlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyTh rGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaG lyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluAlaGlyAlaGly ThrGluAlaGlyAlaGlyAlaGluValGluAlaGlyAlaGlyAlaGluVa lGlyAlaGlyThrGluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaA rgAlaGluAlaGluValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlu AlaArgAlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAl aGluAlaGlyAlaGluAlaArgAlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(413): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGTTGGGGCTGGGGCTGG GGCTGAGGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGAGCTGGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCT GGGGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGG GGCTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGG TTGGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCT AGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGA GGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGG CTGAGGCTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01943.hp1 HG01943.hp1	a0028 a0028	a0028c0056 a0028c0056	a0028c0056t0001 a0028c0056t0001	a0028c0056t0001g0002 a0028c0056t0001g0002	1	326	0.0031	420	c.546 others(429): Show c.5461_5462insTTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGG CTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCT GGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGA CTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCT GGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGA GGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGG CTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCT GGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Gly others(435): Show p.Gly1820_Ala1821insValGlyAlaGlyValGlyAlaGlyAlaGly AlaGluAlaGluAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAl aGlyAlaGlyThrGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaG lyAlaGlyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluAlaGly AlaGlyThrGluAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluVa lGlyAlaGlyThrGluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaA rgAlaGluAlaGluValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlu AlaArgAlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAl aGluAlaGlyAlaGluAlaArgAlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASB5_chr4_176208673_176274222	176218280	T T	TATATATA others(413): Show TATATATATTTGTATGATATATATATTTGTATGATATATAAATATATATA TTTGTATGATATATAAATATACATGTATGATATATAAATATATATTTGTA TGATATATAAATATATATATATTTGTATGATATATAAATATATATATATT TGTATGATATATATATTTGTATGATATATAAATATATATTTGTATGACAT ATAAATATATATTTGTATGACATATAAATATATATATTTGTATGACATAT AAATATATATATTTGTATGACATATAAATATATATGTATGATATATAAAT ATATATTTGTATGATATATAAATATATATATTTGTATGATATATAAATAT ATATATTTGTATGATATATAAATATATATATTTGTATGATATATAAATAT ATATATTTGTATGATATATAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0260 a0001c0002t0001g0260	1	410	0.0024	420	c.671 others(437): Show c.671-1272_671-1271insTTATATATCATACAAATATATATATTTA TATATCATACAAATATATATATTTATATATCATACAAATATATATATTTA TATATCATACAAATATATATATTTATATATCATACAAATATATATTTATA TATCATACATATATATTTATATGTCATACAAATATATATATTTATATGTC ATACAAATATATATATTTATATGTCATACAAATATATATTTATATGTCAT ACAAATATATATTTATATATCATACAAATATATATATCATACAAATATAT ATATATTTATATATCATACAAATATATATATATTTATATATCATACAAAT ATATATTTATATATCATACATGTATATTTATATATCATACAAATATATAT ATTTATATATCATACAAATATATATATCATACAAATATATAT		ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6						chr4	TogoVar
ASMTL_chrX_1398139_1457909	1408166	C C	CCTCCAGC others(413): Show CCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGA GGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAAC ACTGCACTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGG CAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATG GCAACACTGCCCTCCAGCCAAATGCTGGTACTCCCACATACTCGGGAGGC TGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTA TGATGGCAACACTGCACTCCAGCCAAATGCTGGTACTCCCAAATACTCGG GAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTG AACTATGATGACAACACTGCA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0174 a0001c0011t0001g0174	1	185	0.0054	420	c.164 others(439): Show c.1645+4565_1645+4566insTGCAGTGTTGTCATCATAGTTCACTG CAGCCTTGACCTCCTGGGCTCAAGCGATCCTCCTGCCTCAGCCTCCCGAG TATTTGGGAGTACCAGCATTTGGCTGGAGTGCAGTGTTGCCATCATAGTT CACTGCAGCCTTGACCTCCTGGGCTCAAGCGATCCTCCTGCCTCAGCCTC CCGAGTATGTGGGAGTACCAGCATTTGGCTGGAGGGCAGTGTTGCCATCA TAGTTCACTGCAGCCTTGACCTCCTGGGCTCAAGCGATCCTCCTGCCTCA GCCTCCCGAGTATTTGGGAGTACCAGCATTTGGCTGGAGTGCAGTGTTGC CATCATAGTTCACTGCAGCCTTGACCTCCTGGGCTCAAGCGATCCTCCTG CCTCAGCCTCCCGAGTATTTGGGAGTACCAGCATTTGGCTGGAG		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12						chrX	TogoVar
ATP10B_chr5_160558120_160857211	160653921	A A	AATATATG others(413): Show AATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATA CGTATATACATATATAAATATATGTTGTATATACGTATATACATATATAA ATATATGTTGTATATACGTATATACTATATATGTTGTATATACGTATATA CAACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTTG TATATACGTATATACAACATAAATATATGTTGTATATACGTATATACAAC ATAAATATATGTTGTATATACGTATATACATATATAAATATATGTTGTAT ATACGTATATACATATATAAATATATGTTGTATATACGTATATACATATA TAAATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATA TACGTATATACATATATAAAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0023 a0023	a0023c0031 a0023c0031	a0023c0031t0001 a0023c0031t0001	a0023c0031t0001g0155 a0023c0031t0001g0155	1	236	0.0042	420	c.676 others(437): Show c.676-4666_676-4665insATTTATATATGTATATACGTATATACAA CATATATTTATATATGTATATACGTATATACAACATATATTTATATATGT ATATACGTATATACAACATATATTTATATATGTATATACGTATATACAAC ATATATTTATATATGTATATACGTATATACAACATATATTTATGTTGTAT ATACGTATATACAACATATATTTATGTTGTATATACGTATATACAACATA TATTTATGTTGTATATACGTATATACAACATATATTTATGTTGTATATAC GTATATACAACATATATAGTATATACGTATATACAACATATATTTATATA TGTATATACGTATATACAACATATATTTATATATGTATATACGTATATAC AACATATATTTATATATGTATATACGTATATACAACATATAT		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25						chr5	TogoVar
B3GNTL1_chr17_82937149_83056770	82971659	A A	ACAGGGGC others(413): Show ACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCCAG AAGGACCTGGTACTGACCACACCACACTCATAGGGGCCAGAAGGACCCGG TACTGACCACACCACACCACAGGGGCCAGAAGGACCCGGTACTGACCACA CCACACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAG GGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCTAGAAGG ACCTGGTGCCGACCACACCACACCATGGGCCAGAAGGACCTGGTGCCGAC CACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACACACCACACCA GGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACGGGCCAGAAGGA CCTGGAGCCGACACACCACAC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA19012.hp2 NA18967.hp1 NA19012.hp2	a0001 a0001	a0001c0007 a0001c0008 a0001c0007 a0001c0008	a0001c0007t0005 a0001c0008t0005 a0001c0007t0005 a0001c0008t0005	a0001c0007t0005g0229 a0001c0008t0005g0192 a0001c0007t0005g0229 a0001c0008t0005g0192	2	266	0.0075	420	c.460 others(437): Show c.460-5914_460-5913insGTGTGGTGTGTCGGCTCCAGGTCCTTCT GGCCCGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGGTGTG GTGTGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCGGCA CCAGGTCCTTCTGGCCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTA GCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGT GTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTC AGTACCGGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTC CTTCTGGCCCCTATGAGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCC CTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTG		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82971659	A A	ACAGGGGC others(413): Show ACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCCAG AAGGACCTGGTACTGACCACACCACACTCATAGGGGCCAGAAGGACCCGG TACTGACCACACCACACCACAGGGGCCAGAAGGACCCGGTACTGACCACA CCACACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAG GGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCTAGAAGG ACCTGGTGCCGACCACACCACACCATGGGCCAGAAGGACCTGGTGCCGAC CACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACACACCACACCA GGGGCTAGAAGGACCTGGTGCCGACCACACCACACCACGGGCCAGAAGGA CCTGGAGCCGACACACCACAC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA19070.hp1 NA18966.hp2 NA19070.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0032 a0001c0004t0001g0039 a0001c0004t0001g0032 a0001c0004t0001g0039	2	266	0.0075	420	c.460 others(437): Show c.460-5914_460-5913insGTGTGGTGTGTCGGCTCCAGGTCCTTCT GGCCCGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTAGCCCCTGGTGTG GTGTGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCGGCA CCAGGTCCTTCTGGCCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTA GCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGT GTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTC AGTACCGGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTC CTTCTGGCCCCTATGAGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCC CTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTG		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82971659	A A	ACAGGGGC others(413): Show ACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCCAG AAGGACCTGGTACTGACCACACCACACTCATAGGGGCCAGAAGGACCCGG TACTGACCACACCACACCACAGGGGCCAGAAGGACCCGGTACTGACCACA CCACACCACAGGGGCTAGAAGGACCTGGTACTGACCACACCACACCACAG GGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCTAGAAGG ACCTGGTGCCGACCACACCACACCATGGGCCAGAAGGACCTGGTGCCGAC CACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACACACCACACCA GGGGCTAGAAGGACCTGGTGCCGACCACACCACACCACGGGCCAGAAGGA CCTGGAGCCGACACACCACAC	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0003 a0002c0015t0003	a0002c0015t0003g0043 a0002c0015t0003g0043	1	266	0.0038	420	c.460 others(437): Show c.460-5914_460-5913insGTGTGGTGTGTCGGCTCCAGGTCCTTCT GGCCCGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTAGCCCCTGGTGTG GTGTGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCGGCA CCAGGTCCTTCTGGCCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTA GCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGT GTGGTGTGGTCAGTACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTC AGTACCGGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTC CTTCTGGCCCCTATGAGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCC CTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTG		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82971954	G G	GCTGACCA others(413): Show GCTGACCACACCACACCACAGGGGCTAGAAGGACCTGGTACTGACCACAC CACACCATGGGCCAGAAGGACCTGGTGCCGACACACCACACCATGGGCCA GAAGGACCTGGTGCCGACCACACCACACCACAGGGGATAGAAGGACCTGG TACTGACCACACCACACCACGGGCCAGAAGGACCTGGTGCCGACACACCA CACCATGGGCCAGAAGGACCTGGTGCTGACCACACCACACTCATAGGGGC CAGAAGGACCCGGTACTGACCACACCACACCACAGGGGCCAGAAGGACCT GGTACTGACCACACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCA CACCACACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCAC AGGGGATAGAAGGACCCAGTA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0161 a0002c0005t0003g0161	1	266	0.0038	420	c.460 others(437): Show c.460-6209_460-6208insTACTGGGTCCTTCTATCCCCTGTGGTGT GGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGG CACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCT TCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTCCTTCTGGCCCCTA TGAGTGTGGTGTGGTCAGCACCAGGTCCTTCTGGCCCATGGTGTGGTGTG TCGGCACCAGGTCCTTCTGGCCCGTGGTGTGGTGTGGTCAGTACCAGGTC CTTCTATCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCA TGGTGTGGTGTGTCGGCACCAGGTCCTTCTGGCCCATGGTGTGGTGTGGT CAGTACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCAG		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
BFSP2_chr3_133395056_133480208	133425964	A A	AGGGGAGG others(413): Show AGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGGGGAGGGGATGGAGGGG GAGGGGAGGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGAGGGGA GGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGAGGGGGAGGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGGGGGAGG GGGAGGGGGAGGGGAGGGGAGAGGGAGGGGATGGGGAGGGGAGGGGGAGG GGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGAGGG GGGAGGGGAGGGGGAGGGGAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	276	0.0036	420	c.490 others(439): Show c.490-21348_490-21347insGGGGGAGGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAGGGGAGGGGA GGGGAGGGGATGGAGGGGGAGGGGAGGGGGATGGGAGGGGGAGGGGAGGG GATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGATGGGAG GGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGG GGAGGGGGGGGGGGGAGGGGGAGGGGGAGGGGAGGGGAGAGGGAGGGGAT GGGGAGGGGAGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGG GGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGATGGGGA		BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
C10orf90_chr10_126419997_126675693	126672875	C C	CCCGAGAC others(413): Show CCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATC AGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTG GTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCA GGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCG AGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCT ACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCA TCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGAC TGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGAC CAGGACTGGTCATCAGCTACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0027 a0005c0006t0001g0027	1	218	0.0046	420	c.-23 others(431): Show c.-2396_-2395insAGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGC TGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGG GGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGG TCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAG TCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGAT GACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTA GCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTC GGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCT GGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGG		C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding					2183		chr10	TogoVar
C17orf67_chr17_56786913_56838920	56792819	G G	GTGATGGT others(413): Show GTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGGTGAT GGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGG TGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTG GTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGATGGT GATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGATGGTGG TGATGGTGGTGGTGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTG GTGGTGGTGATGGTGATGATGGTGGTGATGGTAGTGGTGGTGGTGATGGT GATGATGGTGGTGATGGTAGTGGTGATGGTGATGATGGTGGTGATGGTGA TGATGGTGGTGATGGTGGTGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp2 HG02055.hp1 others(6): Show HG00639.hp1 HG01243.hp2 HG02055.hp1 HG02280.hp2 HG02622.hp2 HG02717.hp2 HG02976.hp1 HG03540.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0196 a0001c0001t0004g0197 others(5): Show a0001c0001t0004g0036 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0202	9	292	0.0308	420	c.21 others(435): Show c.21-468_*21-467insTCACCACCATCACCACCATCATCACCATCA CCACCATCATCACCATCACCACTACCATCACCACCATCATCACCATCACC ACCACCACTACCATCACCACCATCATCACCATCACCACCACCACCATCAC CACCATCATCACCATCACCACCATCATCACCACCACCATCACCACCATCA CCACCACCATCACCACCATCATCACCATCACCACCACCATCACCATCATC ACCATCACCACCACCACCACCATCACCACCATCACCACCACCACCACCAC CATCACCATCACCACCATCATCACCATCACCACCATCATCACCATCACCA CCACCATCACCACCATCACCACCACCATCACCACCATCACCATCACCACC ACCACCATCACCACCATCATCACCATCACCACCACCATCA		C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7						chr17	TogoVar
C17orf67_chr17_56786913_56838920	56792825	G G	GTGATGGT others(413): Show GTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGGTGAT GGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGG TGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTG GTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGATGGT GATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGATGGTGG TGATGGTGGTGGTGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTG GTGGTGGTGATGGTGATGATGGTGGTGATGGTAGTGGTGGTGGTGATGGT GATGATGATGGTGGTGATGGTAGTGGTGATGGTGATGATGGTGATGATGG TGGTGATGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	292	0.0034	420	c.21 others(435): Show c.21-474_*21-473insTCACCATCACCACCATCACCACCATCATCA CCATCATCACCATCACCACTACCATCACCACCATCATCATCACCATCACC ACCACCACTACCATCACCACCATCATCACCATCACCACCACCACCATCAC CACCATCATCACCATCACCACCATCATCACCACCACCATCACCACCATCA CCACCACCATCACCACCATCATCACCATCACCACCACCATCACCATCATC ACCATCACCACCACCACCACCATCACCACCATCACCACCACCACCACCAC CATCACCATCACCACCATCATCACCATCACCACCATCATCACCATCACCA CCACCATCACCACCATCACCACCACCATCACCACCATCACCATCACCACC ACCACCATCACCACCATCATCACCATCACCACCACCATCA		C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7						chr17	TogoVar

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Search Results (Total: 10000 hits)