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
BRF1_chr14_105204286_105306001	105237573	G G	GTCCGCGT others(95): Show GTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTG GCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCA CTA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	72	0.0139	102	c.694 others(119): Show c.694+3691_694+3692insTAGTGGTGTGGCCTCTCTCTCCTGAGAT GCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCG CCCCCAGCTGGGCGACTACGCGGA	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105237612	G G	GCAGCCCC others(95): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	72	0.0139	102	c.694 others(119): Show c.694+3652_694+3653insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACGGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105237619	T T	TGTGGCAC others(95): Show TGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGC CCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0064 a0001c0001t0006g0064	1	72	0.0139	102	c.694 others(119): Show c.694+3645_694+3646insGGGGCTGTCAGGCTGTCCCCCGCCCCCA GCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTA GGTTGTTGCTCCTGAGGGTGCCAC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105237777	G G	GTCCGCGT others(95): Show GTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTG GCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCA CTA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03834.hp2 HG01175.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0052 a0001c0001t0001g0054	2	72	0.0278	102	c.694 others(119): Show c.694+3487_694+3488insTAGTGGTGTGGCCTCTCTCTCCTGAGAT GCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCG CCCCCAGCTGGGCGACTACGCGGA	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105237918	G G	GCAGCCCT others(95): Show GCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	72	0.0139	102	c.694 others(119): Show c.694+3346_694+3347insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACAGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105238326	G G	GCAGCCCC others(95): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	72	0.0139	102	c.694 others(119): Show c.694+2938_694+2939insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACGGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105238414	C C	CGGGGACA others(95): Show CGGGGACAGCCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCA TCTCAGGAGAGAGAGGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGG GCG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	72	0.0139	102	c.694 others(119): Show c.694+2850_694+2851insCGCCCCAGCTGGGCGACTACGCGGACAG TGGTGTGGCCCTCTCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTG CCACGGGGCTGCCAGGCTGTCCCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105238428	G G	GCAGCCCC others(95): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCACGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	72	0.0139	102	c.694 others(119): Show c.694+2836_694+2837insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGTGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACGGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105238428	G G	GCAGCCCC others(95): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	72	0.0139	102	c.694 others(119): Show c.694+2836_694+2837insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACGGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105238428	G G	GCAGCCCT others(95): Show GCAGCCCTGTGGCACCCTCAGGAGTAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	72	0.0139	102	c.694 others(119): Show c.694+2836_694+2837insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT ACTCCTGAGGGTGCCACAGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105238530	G G	GCAGCCCC others(95): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	72	0.0139	102	c.694 others(119): Show c.694+2734_694+2735insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACGGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105238734	G G	GCAGCCCC others(95): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCTGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0061 a0001c0002t0005g0061	1	72	0.0139	102	c.694 others(119): Show c.694+2530_694+2531insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCAGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACGGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105238836	G G	GCAGCCCC others(95): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGTGGGACAGCC TGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02970.hp1 HG02257.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0067 a0001c0001t0002g0068	2	72	0.0278	102	c.694 others(119): Show c.694+2428_694+2429insTCAGGCTGTCCCACGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACGGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105238938	G G	GCAGCCCC others(95): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03579.hp1 HG03540.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0033 a0001c0001t0002g0028 a0001c0001t0001g0033 a0001c0001t0002g0028	2	72	0.0278	102	c.694 others(119): Show c.694+2326_694+2327insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACGGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105238938	G G	GCAGCCCT others(95): Show GCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGTGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02717.hp2 HG01891.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0036 a0001c0001t0001g0042	2	72	0.0278	102	c.694 others(119): Show c.694+2326_694+2327insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACACGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACAGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105239040	G G	GCAGCCCT others(95): Show GCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGTGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	72	0.0139	102	c.694 others(119): Show c.694+2224_694+2225insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACACGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACAGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105239142	G G	GCAGCCCT others(95): Show GCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGTGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	72	0.0139	102	c.694 others(119): Show c.694+2122_694+2123insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACACGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACAGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105239205	G G	GTCCGCGT others(95): Show GTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCTGTG GCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCA CTA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02970.hp1 HG02257.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0067 a0001c0001t0002g0068	2	72	0.0278	102	c.694 others(119): Show c.694+2059_694+2060insTAGTGGTGTGGCCTCTCTCTCCTGAGAT GCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGTCAGGCTGTCCCCCG CCCCCAGCTGGGCGACTACGCGGA	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105239244	G G	GCAGCCCT others(95): Show GCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	72	0.0139	102	c.694 others(119): Show c.694+2020_694+2021insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACAGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105239251	T T	TGTGGCAC others(95): Show TGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGC CCC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG03579.hp1 HG02129.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0025 a0001c0001t0002g0028 a0001c0001t0001g0025 a0001c0001t0002g0028	2	72	0.0278	102	c.694 others(119): Show c.694+2013_694+2014insGGGGCTGTCAGGCTGTCCCCCGCCCCCA GCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTA GGTTGTTGCTCCTGAGGGTGCCAC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105239307	G G	GTCCGCGT others(95): Show GTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTG GCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCA CTA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0009	1	72	0.0139	102	c.694 others(119): Show c.694+1957_694+1958insTAGTGGTGTGGCCTCTCTCTCCTGAGAT GCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCG CCCCCAGCTGGGCGACTACGCGGA	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105239409	G G	GTCCGCGT others(95): Show GTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTG GCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCA CTA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0001 a0001c0003t0009g0001	1	72	0.0139	102	c.694 others(119): Show c.694+1855_694+1856insTAGTGGTGTGGCCTCTCTCTCCTGAGAT GCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCG CCCCCAGCTGGGCGACTACGCGGA	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105239455	T T	TGTGGCAC others(95): Show TGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGC CCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0062	1	72	0.0139	102	c.694 others(119): Show c.694+1809_694+1810insGGGGCTGCCAGGCTGTCCCCCGCCCCCA GCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTA GGTTGTTGCTCCTGAGGGTGCCAC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105239550	A A	ACAGCCCT others(95): Show ACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGTTGGGGGCGGGGGACAGCC TGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	72	0.0139	102	c.694 others(119): Show c.694+1714_694+1715insCCAGGCTGTCCCCCGCCCCCAACTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACAGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105239550	A A	GCAGCCCT others(95): Show GCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	72	0.0139	102	c.694 others(119): Show c.694+1715_694+1716insCAGGCTGTCCCCCGCCCCCAGCTGGGCG ACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTTG CTCCTGAGGGTGCCACAGGGCTGC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105239856	G G	GCAGCCCC others(95): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	72	0.0139	102	c.694 others(119): Show c.694+1408_694+1409insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACGGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105240025	G G	GCGTAGTC others(95): Show GCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCTGTGGCAC CCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGT CCA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	72	0.0139	102	c.694 others(119): Show c.694+1239_694+1240insTGGACAGTGGTGTGGCCTCTCTCTCCTG AGATGCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGTCAGGCTGTCC CCCGCCCCCAGCTGGGCGACTACG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105240338	C C	CGCCCAGC others(95): Show CGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCCTCAGG AGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTA GTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	72	0.0139	102	c.694 others(117): Show c.694+926_694+927insAACTACGCGGACAGTGGTGTGGCCTCTCTC TCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGGC TGTCCCCCGCCCCCAGCTGGGC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105240366	A A	GCAGCCCT others(95): Show GCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	72	0.0139	102	c.694 others(117): Show c.694+899_694+900insCAGGCTGTCCCCCGCCCCCAGCTGGGCGAC TACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTTGCT CCTGAGGGTGCCACAGGGCTGC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105240429	G G	GTCCGCGT others(95): Show GTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTG GCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCA CTA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0004 a0001c0002t0005g0004	1	72	0.0139	102	c.694 others(117): Show c.694+734_694+835dupTAGTGGTGTGGCCTCTCTCTCCTGAGATGC TAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGTCCCCCGCC CCCAGCTGGGCGACTACGCGGA	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105240475	T T	TGTGGCAC others(95): Show TGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGC CCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0063 a0001c0001t0006g0063	1	72	0.0139	102	c.694 others(117): Show c.694+789_694+790insGGGGCTGTCAGGCTGTCCCCCGCCCCCAGC TGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGG TTGTTGCTCCTGAGGGTGCCAC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105240531	A A	GTCCGCGT others(95): Show GTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTG GCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCA CTA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	72	0.0139	102	c.694 others(117): Show c.694+734_694+735insAGTGGTGTGGCCTCTCTCTCCTGAGATGCT AGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGTCCCCCGCCC CCAGCTGGGCGACTACGCGGAC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRIP1_chr17_61674139_61868528	61716776	C C	CCCATATT others(95): Show CCCATATTATTTCCACTACTGGAAATAATATGCTTCCATATTATTTCCAC TACTGGAAATAATATGCTTCCATATTATTTCCACTACTGGAAATAATATG CTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01516.hp2 NA18966.hp2 HG01261.hp1 HG01516.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0004 a0001c0001t0011	a0001c0001t0004g0207 a0001c0001t0004g0230 a0001c0001t0011g0037 a0001c0001t0004g0207 a0001c0001t0004g0230 a0001c0001t0011g0037	3	266	0.0113	102	c.238 others(119): Show c.2380-714_2380-713insAAGCATATTATTTCCAGTAGTGGAAATA ATATGGAAGCATATTATTTCCAGTAGTGGAAATAATATGGAAGCATATTA TTTCCAGTAGTGGAAATAATATGG	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	16/19			chr17	TogoVar
BSG_chr19_567596_588493	570591	A A	AGGGGCGG others(95): Show AGGGGCGGGTGGGGGAGGGGCGGAGGGGCGGGTTGGGAGGGGCGGGTGGG GAGGGGAGGGTTGGGAGGGGCGGAGGGGCGGGTGGGGGAGGGGCGGGTGG GAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03225.hp2 HG03098.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	2	306	0.0065	102	c.-20 others(113): Show c.-2044_-2043insGGGGCGGGTGGGGGAGGGGCGGAGGGGCGGGTTG GGAGGGGCGGGTGGGGAGGGGAGGGTTGGGAGGGGCGGAGGGGCGGGTGG GGGAGGGGCGGGTGGGAG	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		2004		chr19	TogoVar
BSG_chr19_567596_588493	570627	C C	CGGTGGGG others(95): Show CGGTGGGGGAGGGGCGGAGGGGCGGGTGGAAAGGGCGGAGGGGTGGGTGG GGGAGGGGCGGAGGGGTGGGGGAGGGGGCGGAGGGGTGGGTGGGGGAGGG GTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	306	0.0033	102	c.-20 others(113): Show c.-2008_-2007insGGTGGGGGAGGGGCGGAGGGGCGGGTGGAAAGGG CGGAGGGGTGGGTGGGGGAGGGGCGGAGGGGTGGGGGAGGGGGCGGAGGG GTGGGTGGGGGAGGGGTG	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1968		chr19	TogoVar
BSN_chr3_49549477_49676549	49605617	A A	ATATTTAT others(95): Show ATATTTATATATAATATATATTATATATTATATATATTTATATATAATAT ATATTATATATTATATATAAATATAATATATATTACATATATGTAATATA TAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG03942.hp1 NA19003.hp2 HG01928.hp1 HG03942.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0002 a0001c0001t0020 a0001c0017t0002 a0001c0001t0002 a0001c0001t0020 a0001c0017t0002	a0001c0001t0002g0140 a0001c0001t0020g0092 a0001c0017t0002g0106 a0001c0001t0002g0140 a0001c0001t0020g0092 a0001c0017t0002g0106	3	186	0.0161	102	c.225 others(121): Show c.225-19356_225-19355insTTTATATATAATATATATTATATATT ATATATATTTATATATAATATATATTATATATTATATATAAATATAATAT ATATTACATATATGTAATATATATTA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BTN1A1_chr6_26495303_26515425	26514199	T T	TTATATAT others(95): Show TTATATATATATACACACACATATATAATATATGTGCACATATATATATT ATATATATATTATATATATATATATATTATATATATATTATATATATATA ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	414	0.0024	102	c.50 others(113): Show c.5025_*5026insTATATATATATACACACACATATATAATATATGT GCACATATATATATTATATATATATTATATATATATATATATTATATATA TATTATATATATATAATA	BTN1A1	ENSG00000124557.14	transcript	ENST00000684113.1	protein_coding		3775		chr6	TogoVar
BTN1A1_chr6_26495303_26515425	26514199	T T	TTATATAT others(95): Show TTATATATATATATACACACACATATATAATATATGTGCACATATATATA TTATATATATATTATATATATATATATTATATATATATTATATATATATA ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	414	0.0024	102	c.50 others(113): Show c.5025_*5026insTATATATATATATACACACACATATATAATATAT GTGCACATATATATATTATATATATATTATATATATATATATTATATATA TATTATATATATATAATA	BTN1A1	ENSG00000124557.14	transcript	ENST00000684113.1	protein_coding		3775		chr6	TogoVar
C10orf90_chr10_126419997_126675693	126564842	A A	ATATTATA others(95): Show ATATTATATATATTATATATAATATATATTTTATATTATATAAAATATAT ATTATATATAATATATTTTATATATTATATAAAATATATATTAAATATAT ATT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02965.hp1 HG01243.hp1 HG02965.hp1	a0005 a0009 a0005 a0009	a0005c0021 a0009c0026 a0005c0021 a0009c0026	a0005c0021t0001 a0009c0026t0001 a0005c0021t0001 a0009c0026t0001	a0005c0021t0001g0171 a0009c0026t0001g0181 a0005c0021t0001g0171 a0009c0026t0001g0181	2	218	0.0092	102	c.314 others(121): Show c.314-50904_314-50903insAATATATATTTAATATATATTTTATA TAATATATAAAATATATTATATATAATATATATTTTATATAATATAAAAT ATATATTATATATAATATATATAATA	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C11orf21_chr11_2290628_2306918	2291563	A A	ACCCGCAG others(95): Show ACCCGCAGCACCCCCAAAAACAACTCCCCGCTTTATTCACAGAGGCGTGC CACCCGCAGCACCCCCAAAAACAACTCCCCACTTTATTCGCAGAGGTGTG CCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA19062.hp2 NA19067.hp1 NA18747.hp2 NA19062.hp2 NA19067.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0006 a0002c0002 a0005c0006	a0002c0002t0001 a0005c0006t0001 a0002c0002t0001 a0005c0006t0001	a0002c0002t0001g0001 a0002c0002t0001g0035 a0005c0006t0001g0043 a0002c0002t0001g0001 a0002c0002t0001g0035 a0005c0006t0001g0043	3	426	0.0070	102	c.63 others(113): Show c.6386_*6387insAGGCACACCTCTGCGAATAAAGTGGGGAGTTGTT TTTGGGGGTGCTGCGGGTGGCACGCCTCTGTGAATAAAGCGGGGAGTTGT TTTTGGGGGTGCTGCGGG	C11orf21	ENSG00000110665.12	transcript	ENST00000381153.8	protein_coding		4064		chr11	TogoVar
C11orf65_chr11_108377755_108472529	108408671	C C	CAATAAAT others(95): Show CAATAAATAAAATAAAATAAAATAAAATAAAATAAAAAATTAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03492.hp2 HG02523.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0277 a0001c0001t0001g0264 a0001c0001t0001g0277	2	330	0.0061	102	c.175 others(119): Show c.175-1523_175-1522insTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTAATTTTTTATTTTATT TTATTTTATTTTATTTTATTTATT	C11orf65	ENSG00000166323.13	transcript	ENST00000393084.6	protein_coding	3/8			chr11	TogoVar
C11orf65_chr11_108377755_108472529	108408671	C C	CAATAAAT others(95): Show CAATAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAAAT TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	330	0.0030	102	c.175 others(119): Show c.175-1523_175-1522insTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTAATTTTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTATT	C11orf65	ENSG00000166323.13	transcript	ENST00000393084.6	protein_coding	3/8			chr11	TogoVar
C11orf65_chr11_108377755_108472529	108408674	T T	TAAATAAA others(95): Show TAAATAAAATAAAATAAAATAAAATAAAATAAAAAATTAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA ATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01496.hp1 HG02165.hp1 others(13): Show HG01123.hp1 HG01496.hp1 HG02165.hp1 NA18957.hp1 NA18957.hp2 NA18977.hp2 NA18979.hp2 NA18994.hp1 NA18995.hp2 NA19010.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp2 NA19070.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0001c0001t0003 a0006c0006t0001 a0001c0001t0001 a0001c0001t0003 a0006c0006t0001	a0001c0001t0001g0066 a0001c0001t0001g0212 a0001c0001t0001g0214 others(13): Show a0001c0001t0001g0066 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0282 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0307 a0001c0001t0003g0003 a0006c0006t0001g0213	16	330	0.0485	102	c.175 others(119): Show c.175-1526_175-1525insTATTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAATTTTTTATTTT ATTTTATTTTATTTTATTTTATTT	C11orf65	ENSG00000166323.13	transcript	ENST00000393084.6	protein_coding	3/8			chr11	TogoVar
C11orf65_chr11_108377755_108472529	108408674	T T	TAAATAAA others(95): Show TAAATAAAATAAAATAAAATAAAATAAAATAAAAAATTAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAATAAA ATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02735.hp2 HG03688.hp2 others(5): Show HG02559.hp1 HG02735.hp2 HG03688.hp2 HG03710.hp1 HG04199.hp2 NA18967.hp1 NA18989.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0237 a0001c0001t0001g0258 others(5): Show a0001c0001t0001g0203 a0001c0001t0001g0237 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0270 a0001c0001t0001g0302	8	330	0.0242	102	c.175 others(119): Show c.175-1526_175-1525insTATTTTATTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAATTTTTTATTTT ATTTTATTTTATTTTATTTTATTT	C11orf65	ENSG00000166323.13	transcript	ENST00000393084.6	protein_coding	3/8			chr11	TogoVar
C11orf65_chr11_108377755_108472529	108408674	T T	TAAATAAA others(95): Show TAAATAAAATAAAATAAAATAAAATAAAATAAAAAATTAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAATAAAATAAA ATA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 NA18982.hp2 others(1): Show HG01168.hp1 HG01169.hp2 NA18982.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0240 others(1): Show a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0240 a0001c0001t0001g0285	4	330	0.0121	102	c.175 others(119): Show c.175-1526_175-1525insTATTTTATTTTATTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAATTTTTTATTTT ATTTTATTTTATTTTATTTTATTT	C11orf65	ENSG00000166323.13	transcript	ENST00000393084.6	protein_coding	3/8			chr11	TogoVar
C11orf87_chr11_109417190_109434167	109427668	C C	CAGTATTA others(95): Show CAGTATTAATAAGGTGGCATGCTTGATTCTTATTGTTTTTAAAAATGAGA AAATTTGGAGAGAGAATACTATTATGTCAACGGTACAAGACTCTGAATCT TGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0001 a0001c0001t0025g0001	1	390	0.0026	102	c.34 others(113): Show c.3444_*3545dupTATTAATAAGGTGGCATGCTTGATTCTTATTGTT TTTAAAAATGAGAAAATTTGGAGAGAGAATACTATTATGTCAACGGTACA AGACTCTGAATCTTGAAG	C11orf87	ENSG00000185742.7	transcript	ENST00000327419.7	protein_coding	2/2	3546	INFO_REALIGN_3_PRIME	chr11	TogoVar
C12orf56_chr12_64259762_64395758	64367180	T T	TTATATAT others(95): Show TTATATATAATATACAGTTTATATATTATATATAATATACAGTTTATATA TTATATATAATATACAGATTATATATTATATATAATATACAGTTTATATA TTA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0173 a0002c0005t0006g0173	1	312	0.0032	102	c.253 others(121): Show c.253-14125_253-14124insTAATATATAAACTGTATATTATATAT AATATATAATCTGTATATTATATATAATATATAAACTGTATATTATATAT AATATATAAACTGTATATTATATATA	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12			chr12	TogoVar
C20orf204_chr20_64031182_64044001	64042762	A A	AGACGGGA others(95): Show AGACGGGACGGGGGTCGTGGGGGACGGGGCGGGGTCGTGGGGGACGGGGC GGGGTCGTGGGGGACGGGACGGGGGTCGTGGGGGACGGGGCGGGGTCGTG GGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02486.hp1 HG02630.hp2 others(4): Show HG02451.hp1 HG02486.hp1 HG02630.hp2 HG02809.hp1 HG03540.hp2 HG06807.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0003g0002 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0003g0002	7	392	0.0179	102	c.40 others(113): Show c.4003_*4004insGACGGGACGGGGGTCGTGGGGGACGGGGCGGGGT CGTGGGGGACGGGGCGGGGTCGTGGGGGACGGGACGGGGGTCGTGGGGGA CGGGGCGGGGTCGTGGGG	C20orf204	ENSG00000196421.9	transcript	ENST00000636176.2	protein_coding		3762		chr20	TogoVar
C20orf204_chr20_64031182_64044001	64042812	G G	GGGGTCGT others(95): Show GGGGTCGTGGGAGACGGGACGGGGGTCGTGGGGGACGGGGCGGGGTCGTG GGGGACGGGACGGGGGTCGTGGGGGACGGGACGGGGGTCGTGGGGGACGG GGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02572.hp1 HG02622.hp1 others(6): Show HG01891.hp2 HG02572.hp1 HG02622.hp1 HG02809.hp2 HG03041.hp1 HG03098.hp1 HG03209.hp1 NA18522.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0001 a0001c0001t0001g0011	9	392	0.0230	102	c.40 others(113): Show c.4053_*4054insGGGTCGTGGGAGACGGGACGGGGGTCGTGGGGGA CGGGGCGGGGTCGTGGGGGACGGGACGGGGGTCGTGGGGGACGGGACGGG GGTCGTGGGGGACGGGGC	C20orf204	ENSG00000196421.9	transcript	ENST00000636176.2	protein_coding		3812		chr20	TogoVar
C20orf204_chr20_64031182_64044001	64042875	G G	GGGGTCGT others(95): Show GGGGTCGTGGGGGACGGGACGGGGGTCGTGGGGGACGGGGCGGGGGTCGT GGGGGACGGGGCGGGGTCGTGGGGGACGGGACGGGGGTCGTGGGGGACGG GGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02622.hp2 HG03453.hp1 others(1): Show HG02451.hp2 HG02622.hp2 HG03453.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0017	4	392	0.0102	102	c.41 others(113): Show c.4116_*4117insGGGTCGTGGGGGACGGGACGGGGGTCGTGGGGGA CGGGGCGGGGGTCGTGGGGGACGGGGCGGGGTCGTGGGGGACGGGACGGG GGTCGTGGGGGACGGGGC	C20orf204	ENSG00000196421.9	transcript	ENST00000636176.2	protein_coding		3875		chr20	TogoVar

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Search Results (Total: 10000 hits)