JoGo: Joint Open Genome and Omics Platform

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
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(427): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGATGGAGGGAGGGAAGGAAAGGAGGGATGGGATGGA GGGAGGGAAGGAAAGGAGGGATGGGATGGAGGGAGGGAAGGAAAGGAGGG AGGGAGGGAGGGAAGGAAAGGAGGGATGGGATGGAGGGAGGGAAGGAAAG GAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAG GGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGG AGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02970.hp2 HG03130.hp1 others(1): Show HG02055.hp2 HG02970.hp2 HG03130.hp1 NA19030.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0007 a0001c0021 a0002c0052 others(1): Show a0001c0007 a0001c0021 a0002c0052 a0005c0035	a0001c0007t0010 a0001c0021t0016 a0002c0052t0069 others(1): Show a0001c0007t0010 a0001c0021t0016 a0002c0052t0069 a0005c0035t0010	a0001c0007t0010g0011 a0001c0021t0016g0113 a0002c0052t0069g0076 others(1): Show a0001c0007t0010g0011 a0001c0021t0016g0113 a0002c0052t0069g0076 a0005c0035t0010g0021	4	228	0.0175	434	c.259 others(455): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCCTCCTTTCCTTCCCTCCCTCCATCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCATCCCATCCCTCCTTT CCTTCCCTCCCTCCATCCCATCCCTCCTTTCCTTCCCTCCCTCCATCCCA TCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCACC CTCCCATCCCTCCTTTCCTTCCCACCCTCCCATCCCTCCTTTCCTTCCCT CCCTCCCATCTCTCCTTTCCTTCCCCTCCCTCCCTCCCATCCCTCCTTTC CTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(427): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAGAGAAGGA AAGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGG GATGGGATGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAT GGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGATGGG AGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAG GAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAG GGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGG AGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0204 a0002c0004t0007g0204	1	228	0.0044	434	c.259 others(455): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCT CCCTCCCTCCCATCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC TCCATCCCATCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCC CTCCCATCCTTTCCTTCTCTCCCACCCTCCCATCCCTCCTTTCCTTCCCT CCCTCCCATCTCTCCTTTCCTTCCCCTCCCTCCCTCCCATCCCTCCTTTC CTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500842	A A	AGGAGGGA others(427): Show AGGAGGGAGGGGAAGAGGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGGAG GGGGGGAGGGGGAGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGG GAGGAGGGGAGGGGGGAGGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGG GAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGA GGAGGGAGGGGGGAGGGGGGGGAGAGGGGGGAGGGGGAGGAGGGGAGGAG GGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAG GGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGGAGGAGGGG AAGGGGAGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGGAGG GCGGGGAGGAGGGGGACGGGGGGAGGAGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	352	0.0028	434	c.51 others(445): Show c.5172_*5173insCCCTCCCCTCCTCCCCCCGTCCCCCTCCTCCCCG CCCTCCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCTCCCCT TCCCCTCCTCCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTCCCTC CCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCCTCC CCTCCTCCCCTCCTCCCCCTCCCCCCTCTCCCCCCCCTCCCCCCTCCCTC CTCCTCCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCT CCCCCCTCCCCTCCTCCCTCCTCCCCCCTCCCCCTCCCCCCTCCCCTCCT CCCCCCTCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCTCCCCCTCCCCC CCTCCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCTCTTCCCCTCCCTCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4179		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(427): Show AGGGGAAGAGGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGAGGA GGGAGGAGGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGA GGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGG GAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGG AGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGGCGGGG AGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	352	0.0028	434	c.51 others(445): Show c.5165_*5166insCCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCC TCCCCGCCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCC TCCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTT CCCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCC CTCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCCTCCTCC CTCCTCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCC CCTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCC CTCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCC CTCCCCTCCTCCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(427): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAG GAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGA GGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGA AGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGG AGGAGGGGAGGGGGGGAGGGGGGAGGAGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	352	0.0028	434	c.51 others(445): Show c.5165_*5166insCCCTCCCCTCCTCCCCCCTCCCCCCCTCCCCTCC TCCCCCGTCCCCTCCTCCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCC TTCCCCTCCTCCCCCTCCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTC CTCCCCCTCCCCCTTCCCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCT CCTTCCCTCCTCCCCCTCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCC CCCTCCCCTCCTCCCTCCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCT CCCCCCCTCCTCCCCCCTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCC CTCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCC CCTCCCCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADGRD1_chr12_130948907_131146469	131046203	C C	CCCTGGTC others(427): Show CCCTGGTCAGTGTCCTCCCTGGTCAATGCTCCTCCCTGGTCAGTGTCCTC CTGGTCAGTACTCCCTCCCTGGTCAATGCTCCCTCCCTGGTCAGTGCTCC CTCCCTGGTCAGTGTCCTCCCTGTTCAGTGCTCCCTCCCTGTTCAGTGCT CCCTCCCTGGTCAGTGTCCTCCCTGGTCAGTGCTCCTCCCTGGTCAGTGT CCTCCTGGTCAGTGTCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGCT CCCTCCCTGGTCAGTGTCCTCCCTTGTCAGTGTCCTCCGTGGTCAGTGCT CCTCCCTGGTCAGTGTCCTCCTGGTCAGTGTCCTCCCTGGTCAGTGCTCC CTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTGGTCAATGCT CCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp1 HG02486.hp1 others(6): Show HG02109.hp2 HG02258.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02809.hp2 HG02922.hp2 HG03225.hp1 HG03579.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0007	a0001c0001 a0001c0003 a0001c0007 others(5): Show a0001c0001 a0001c0003 a0001c0007 a0001c0042 a0003c0012 a0003c0041 a0006c0037 a0007c0039	a0001c0001t0016 a0001c0003t0018 a0001c0007t0018 others(5): Show a0001c0001t0016 a0001c0003t0018 a0001c0007t0018 a0001c0042t0007 a0003c0012t0017 a0003c0041t0004 a0006c0037t0042 a0007c0039t0001	a0001c0001t0016g0182 a0001c0003t0018g0117 a0001c0007t0018g0132 others(6): Show a0001c0001t0016g0182 a0001c0003t0018g0117 a0001c0007t0018g0132 a0001c0042t0007g0176 a0003c0012t0017g0017 a0003c0012t0017g0158 a0003c0041t0004g0178 a0006c0037t0042g0046 a0007c0039t0001g0229	9	242	0.0372	434	c.147 others(455): Show c.1474-30595_1474-30594insGGTCAGTGTCCTCCCTGGTCAATG CTCCTCCCTGGTCAGTGTCCTCCTGGTCAGTACTCCCTCCCTGGTCAATG CTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTGTTCAG TGCTCCCTCCCTGTTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTGGTC AGTGCTCCTCCCTGGTCAGTGTCCTCCTGGTCAGTGTCCTCCCTGGTCAG TGCTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTTGTC AGTGTCCTCCGTGGTCAGTGCTCCTCCCTGGTCAGTGTCCTCCTGGTCAG TGTCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTC AGTGTCCTCCCTGGTCAATGCTCCCTCCCTGGTCAGTGCTCCCTCCCTGG TCAGTGTCCT	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRD1_chr12_130948907_131146469	131046203	C C	CCCTGGTC others(427): Show CCCTGGTCAGTGTCCTCCCTGGTCAATGCTCCTCCCTGGTCAGTGTCCTC CTGGTCAGTACTCCCTCCCTGGTCAATGCTCCCTCCCTGGTCAGTGCTCC CTCCCTGGTCAGTGTCCTCCCTGTTCAGTGCTCCCTCCCTGTTCAGTGCT CCCTCCCTGTTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTGGTCAGTG CTCCTCCCTGGTCAGTGTCCTCCTGGTCAGTGTCCTCCCTGGTCAGTGCT CCCTCCCTGGTCAGTGTCCTCCCTTGTCAGTGTCCTCCGTGGTCAGTGCT CCTCCCTGGTCAGTGTCCTCCTGGTCAGTGTCCTCCCTGGTCAGTGCTCC CTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTGGTCAATGCT CCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18612.hp1 HG00609.hp2 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0037 a0001c0002t0010 a0001c0002t0037	a0001c0002t0010g0142 a0001c0002t0037g0194 a0001c0002t0010g0142 a0001c0002t0037g0194	2	242	0.0083	434	c.147 others(455): Show c.1474-30595_1474-30594insGGTCAGTGTCCTCCCTGGTCAATG CTCCTCCCTGGTCAGTGTCCTCCTGGTCAGTACTCCCTCCCTGGTCAATG CTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTGTTCAG TGCTCCCTCCCTGTTCAGTGCTCCCTCCCTGTTCAGTGCTCCCTCCCTGG TCAGTGTCCTCCCTGGTCAGTGCTCCTCCCTGGTCAGTGTCCTCCTGGTC AGTGTCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTTGTC AGTGTCCTCCGTGGTCAGTGCTCCTCCCTGGTCAGTGTCCTCCTGGTCAG TGTCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTC AGTGTCCTCCCTGGTCAATGCTCCCTCCCTGGTCAGTGCTCCCTCCCTGG TCAGTGTCCT	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
AGAP1_chr2_235489043_236136793	235598024	T T	TGTGTGGA others(427): Show TGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCAC GCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCC TTTGTGTGGAGCGTGCACGCGTTCCCGTGTTTCCTTTGTGTGGAGCGTGC ACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTT CCTTTGTGTGGAGCGTGCACGCGCTCCCTTGTTTCCTTTGTGTGGAGCGT GCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGT TTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGC GTGCACGCGCTCCCGTGTTTCCTGTGTGGAGCGTGCACGCGCTCCCGTTT CCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02896.hp2 HG02818.hp1 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0039 a0001c0009t0017 a0001c0002t0039 a0001c0009t0017	a0001c0002t0039g0059 a0001c0009t0017g0037 a0001c0002t0039g0059 a0001c0009t0017g0037	2	98	0.0204	434	c.163 others(455): Show c.163+103175_163+103176insGTGTGGAGCGTGCACGCGCTCCCG TGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGG AGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGTTCC CGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGT GGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCT CCCTTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGT GTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCG CTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTGT GTGGAGCGTGCACGCGCTCCCGTTTCCTTTGTGTGGAGCGTGCACGCGCT CCCGTGTTTC	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17			chr2	TogoVar
AHRR_chr5_316714_443285	344423	A A	ATGTGTGA others(427): Show ATGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTG TGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGAGGCTGTG GGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGG AGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGT GGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTG TGTGTGCGGTATGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTG TGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTG TGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGT GTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTG	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0078 a0001c0001t0041g0078	1	268	0.0037	434	c.62+ others(447): Show c.62+550_62+551insAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGT GTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGT GTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTG TGTGCGCGGGGGGAGCTGTGTGTGTGTGTGTGCGGTATGTGTGAGGCTGT GGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGG GAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTG TGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGT GTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTG TGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTG TG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	344423	A A	ATGTGTGA others(427): Show ATGTGTGAGGCTGTGGGGGGCTGTGTGTGTGTGTGTGTGTGTGTGAGGCT GTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCT GTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGG GGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTG TGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGT GTGTGGGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTG TGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTG TGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGT GTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	268	0.0037	434	c.62+ others(447): Show c.62+487_62+488insTGTGTGTGTGTGTGTGAGGCTGTGTGTGCGCG GGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTG TGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGT GTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTG TGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTG TGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGT GTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGT GGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGG GAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTG TG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	357950	G G	GGGAAGAG others(427): Show GGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGC AGTCAGCGACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGA GTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCC CTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCG GGAGTGGAGGCCGTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAG GAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCT CAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0200 a0003c0004t0004g0200	1	268	0.0037	434	c.244 others(451): Show c.244+4069_244+4070insTCACGGAGTCCACCCGGGCAGTCAGCGA CTGGGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCG GGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCAC GGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGGGAGTGGAG GCCGTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGC CCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACT GAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGG CAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGG AGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGC CCTCAG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKLE2_chr12_132720503_132766832	132729596	A A	AAGGGGAG others(427): Show AAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGA AGGGTGGGAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGG ACGGGTGGGAGGGGGAGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGG AAGGTGAGGGGAGGGGGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGG GAAGGGGGAGGGGAGGGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGAG GGGAGGGGGAGGTGAGGGGAGGGGGGGGTGGGAGGGGAGGGGGAGGGTGG GAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGGGAAGG TGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGG GAAGGCGAGGGGAGGGGGAGGGGGAGGGGGAGGCG	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	350	0.0029	434	c.248 others(449): Show c.2483+82_2483+83insCGCCTCCCCCTCCCCCTCCCCCTCCCCTCG CCTTCCCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTC TCTCACCTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTC CCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCCTCCCCTCACCTCCCC CTCCCCTCACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCC CCTTCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCCCCTCCCCTC ACCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCA CCCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCTCCC ACCCTTCCACTCCCCTCACCTCCTCCTCCCCCTCCCCTCACCTCCCCCTC CCCT	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729596	A A	AAGGGGAG others(427): Show AAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGA AGGGTGGGAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGG ACGGGTGGGAGGGGGAGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGG AAGGTGAGGGGAGGGGGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGG GAAGGGGGAGGGGAGGGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGAG GGGAGGGGGAGGTGAGGGGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGGG AGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGGGAAGGT GAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGGGGGGAGGG GAAGGCGAGGGGAGGGGGAGGGGGAGGGGGAGGCG	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	350	0.0029	434	c.248 others(449): Show c.2483+82_2483+83insCGCCTCCCCCTCCCCCTCCCCCTCCCCTCG CCTTCCCCTCCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTT CTCTCACCTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCT CCCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCACCTCCCC CTCCCCTCACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCC CCTTCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCCCCTCCCCTC ACCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCA CCCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCTCCC ACCCTTCCACTCCCCTCACCTCCTCCTCCCCCTCCCCTCACCTCCCCCTC CCCT	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729596	A A	AAGGGGAG others(427): Show AAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGA AGGGTGGGAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGG ACGGGTGGGAGGGGGAGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGG AAGGTGAGGGGAGGGGGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGG GAAGGGGGAGGGGAGGGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGAG GGGAGGGGGAGGTGAGGGGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGGG AGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGGGAAGGT GAGAGAGAGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGGG AAGGCGAGGGGAGGGGGAGGGGGAGGGGGGAGGCG	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	350	0.0029	434	c.248 others(449): Show c.2483+82_2483+83insCGCCTCCCCCCTCCCCCTCCCCCTCCCCTC GCCTTCCCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCTCT CTCTCACCTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCT CCCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCACCTCCCC CTCCCCTCACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCC CCTTCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCCCCTCCCCTC ACCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCA CCCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCTCCC ACCCTTCCACTCCCCTCACCTCCTCCTCCCCCTCCCCTCACCTCCCCCTC CCCT	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729596	A A	AAGGGGAG others(427): Show AAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGA AGGGTGGGAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGG ACGGGTGGGAGGGGGAGGGGGAGGGGAGGGTGGGAGGGGGAGGGGGAGGG GAAGGTGAGGGGAGGGGGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGG GGAAGGGGGAGGGGAGGGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGA GGGGAGGGGGAGGTGAGGGGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGG GAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGGGAAGG TGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGG GAAGGCGAGGGGAGGGGGAGGGGGAGGGGGAGGCG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	350	0.0029	434	c.248 others(449): Show c.2483+82_2483+83insCGCCTCCCCCTCCCCCTCCCCCTCCCCTCG CCTTCCCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTC TCTCACCTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTC CCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCACCTCCCCC TCCCCTCACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCCC CTTCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCCCCTCCCCTCA CCTTCCCCTCCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCA CCCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCTCCC ACCCTTCCACTCCCCTCACCTCCTCCTCCCCCTCCCCTCACCTCCCCCTC CCCT	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729596	A A	AAGGGGAG others(427): Show AAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGA AGGGTGGGAGGGGAGGGGGAGGTGAGGGGGAGGGGGAGGTGAGGGGAGTG GACGGGTGGGAGGGGGAGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGG GAAGGTGAGGGGAGGGGGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGG GGAAGGGGGAGGGGAGGGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGA GGGGAGGGGGAGGTGAGGGGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGG GAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGGGAAGG TGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGG GAAGGCGAGGGGAGGGGGAGGGGGAGGGGGAGGCG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	350	0.0029	434	c.248 others(449): Show c.2483+82_2483+83insCGCCTCCCCCTCCCCCTCCCCCTCCCCTCG CCTTCCCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTC TCTCACCTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTC CCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCACCTCCCCC TCCCCTCACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCCC CTTCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCCCCTCCCCTCA CCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCAC CCGTCCACTCCCCTCACCTCCCCCTCCCCCTCACCTCCCCCTCCCCTCCC ACCCTTCCACTCCCCTCACCTCCTCCTCCCCCTCCCCTCACCTCCCCCTC CCCT	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729596	A A	AAGGGGAG others(427): Show AAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGA AGGGTGGGAGGGGAGGGGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTG GACGGGTGGGAGGGGGAGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGG GAAGGTGAGGGGAGGGGGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGG GGAAGGGGGAGGGGAGGGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGA GGGGAGGGGGAGGTGAGGGGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGG GAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGGGAAGG TGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGG GAAGGCGAGGGGAGGGGGAGGGGGAGGGGGAGGCG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	350	0.0029	434	c.248 others(449): Show c.2483+82_2483+83insCGCCTCCCCCTCCCCCTCCCCCTCCCCTCG CCTTCCCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTC TCTCACCTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTC CCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCACCTCCCCC TCCCCTCACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCCC CTTCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCCCCTCCCCTCA CCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCAC CCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCCTCCCCTCCC ACCCTTCCACTCCCCTCACCTCCTCCTCCCCCTCCCCTCACCTCCCCCTC CCCT	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729620	G G	GGGGAGGA others(427): Show GGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAGGGGGAGGTG AGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGGAGGGGGAGG GGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGAGGAGAG GGGAGTGGATGGGTGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAGTCGA CGAGTGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGAGGTGAGGGGAGGGG GGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGGAGGATGGA GGGGAGGGGGAGGGGAGGGGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAG GGGAAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGGGGAGGGGGAG GGGGAGGCGAGGGGAGGGGGGAGGTGAGGGGAGGA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0010 a0010	a0010c0021 a0010c0021	a0010c0021t0001 a0010c0021t0001	a0010c0021t0001g0263 a0010c0021t0001g0263	1	350	0.0029	434	c.248 others(449): Show c.2483+58_2483+59insTCCTCCCCTCACCTCCCCCCTCCCCTCGCC TCCCCCTCCCCCTCCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCC TTCCCCTCGCCTTCCCCTCCCCCTTCTCTCACCTTCCCCTCCCCTCCCCC TCCCCTCCATCCTCCCCTCCCCCTCCCCTCCCACCCTCCCCCTCCCCTCC CACCCCCCCTCCCCTCACCTCCCCCTCCCCTCACCTTCCCCTCCCCTCCC ACTCGTCGACTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCACCCATCCA CTCCCCTCTCCTCCCCCTCCCCTCACCTTCCCCTCCCCTCCCCCTCCCAC CCTCCCCTCCCCCTCCCCCTCCCACCCGTCCACTCCCCTCACCTCCCCCT CCCCTCACCTCCCCCTCCCCTCCCACCCTTCCACTCCCCTCACCTCCTCC TCCC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729624	A A	AGGAGGAG others(427): Show AGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAGGGGGAGGTGAGGG GAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGGAGGGGGAGGGGAG GGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGAGGAGAGGGGA GTGGATGGGTGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAGTCGACGAG TGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGAGGTGAGGGGAGGGGGGGT GGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGGAGGATGGGAGGG GAGGGGGAGGGGAGGGGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGG AAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGGGGAGGGGGAGGGG GAGGCGAGGGGAGGGGGAGGTGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	350	0.0029	434	c.248 others(449): Show c.2483+54_2483+55insCTCCCCCTCCCCTCACCTCCCCCTCCCCTC GCCTCCCCCTCCCCCTCCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCCTC GCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCACCTTCCCCTCCCCTCC CCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCACCCTCCCCCTCCC CTCCCACCCCCCCTCCCCTCACCTCCCCCTCCCCTCACCTTCCCCTCCCC TCCCACTCGTCGACTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCACCCA TCCACTCCCCTCTCCTCCCCCTCCCCTCACCTTCCCCTCCCCTCCCCCTC CCACCCTCCCCTCCCCCTCCCCCTCCCACCCGTCCACTCCCCTCACCTCC CCCTCCCCTCACCTCCCCCTCCCCTCCCACCCTTCCACTCCCCTCACCTC CTCC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132759203	C C	CGCTGCGG others(427): Show CGCTGCGGAGTGGCATCCTGGGGCACCCACGTGGCAGAGTGGATCGCTGC GGAGTGGCACCCCAGGGCACCCACATGGCAGAGTGGATTGCGCAGTGTGG CACCCCGGGGCACCCACGTGGCAGAGAGGATCGCTGCGGAGTGGCACCCC GGGGCACCCACGTGGCAGAGTGGATTGCGCAGTGTGGCACCCCGGGGCAC CCACGTGGCAGAGAGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGT GGCAGAGTGGATCGCTGCGGAGTGGCACCCCAGGGCACCCACATGGCAGA GTGGATTGCGCAGTGTGGCACCCCGGGGCACCCACGTGGCAGAGAGGATC GCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCG GAGTGGCACCCCAGGGCACCCACATGGCAGAGTGG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0330 a0003c0003t0001g0330	1	350	0.0029	434	c.181 others(451): Show c.181+2414_181+2415insCCACTCTGCCATGTGGGTGCCCTGGGGT GCCACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCGGGGTGCCACT CCGCAGCGATCCTCTCTGCCACGTGGGTGCCCCGGGGTGCCACACTGCGC AATCCACTCTGCCATGTGGGTGCCCTGGGGTGCCACTCCGCAGCGATCCA CTCTGCCACGTGGGTGCCCCGGGGTGCCACTCCGCAGCGATCCTCTCTGC CACGTGGGTGCCCCGGGGTGCCACACTGCGCAATCCACTCTGCCACGTGG GTGCCCCGGGGTGCCACTCCGCAGCGATCCTCTCTGCCACGTGGGTGCCC CGGGGTGCCACACTGCGCAATCCACTCTGCCATGTGGGTGCCCTGGGGTG CCACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCAGGATGCCACTC CGCAGC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ARHGEF10_chr8_1818926_1963641	1833001	C C	CAGAGGCA others(427): Show CAGAGGCAGAAAGAGACAGAGACGGAGAGAGAGACAGAGGCAGAGAGAGA CAGACAGAGGCAGAGGCAGAGACAGAAATAGACAGAGGCAGAGAGAGACA CAGGCAGAGACAGAGAGAGACAGAGACAGAGACAGGCAGAGAGACAGAGG CAGAGACAGAGACAGGCAGAGACAGAGGCAGAGAGAGACAGAGACAGAGG CAGAGAGAGACAGAGGGAGGCAGAGACAGAGGCAGAGGCAGAGACAGAAG CAGAGGGAGGCAGAGGGAGACAGACAGAGGCAGAGACAGAGGCAGAGAGA GACAGGCAGAGACAGAGGCAGAGGCAGAGACAGAGATAGAGGCAGAGAGA GATACAGGCAGAGACAGAGACAGAGAGACAGAGACAGGCAGAGAGATACA GAGAGACAGAGGCAGAGAGACAGAGACAGAGACAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00544.hp1 others(32): Show HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00741.hp1 HG01496.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG03041.hp1 HG03041.hp2 HG03453.hp1 HG03471.hp2 HG03579.hp1 NA18522.hp2 NA18906.hp1 NA18951.hp2 NA18965.hp2 NA18994.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp1 NA19070.hp1 NA19085.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0011 others(3): Show a0001 a0002 a0011 a0012 a0014 a0022	a0001c0001 a0001c0002 a0001c0003 others(24): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0012 a0001c0016 a0001c0023 a0001c0041 a0001c0095 a0001c0096 a0001c0105 a0001c0116 a0001c0120 a0001c0155 a0002c0022 a0002c0030 a0002c0032 a0002c0034 a0002c0054 a0002c0081 a0002c0152 a0011c0090 a0011c0138 a0012c0084 a0014c0107 a0022c0091	a0001c0001t0004 a0001c0001t0014 a0001c0002t0003 others(27): Show a0001c0001t0004 a0001c0001t0014 a0001c0002t0003 a0001c0003t0003 a0001c0005t0003 a0001c0005t0031 a0001c0007t0003 a0001c0012t0003 a0001c0016t0014 a0001c0023t0007 a0001c0041t0004 a0001c0041t0007 a0001c0095t0011 a0001c0096t0033 a0001c0105t0015 a0001c0116t0004 a0001c0120t0057 a0001c0155t0003 a0002c0022t0003 a0002c0030t0004 a0002c0032t0004 a0002c0034t0004 a0002c0054t0002 a0002c0081t0003 a0002c0152t0002 a0011c0090t0011 a0011c0138t0011 a0012c0084t0003 a0014c0107t0004 a0022c0091t0003	a0001c0001t0004g0141 a0001c0001t0004g0354 a0001c0001t0014g0361 others(32): Show a0001c0001t0004g0141 a0001c0001t0004g0354 a0001c0001t0014g0361 a0001c0002t0003g0348 a0001c0003t0003g0362 a0001c0005t0003g0174 a0001c0005t0003g0359 a0001c0005t0031g0351 a0001c0007t0003g0346 a0001c0007t0003g0352 a0001c0007t0003g0355 a0001c0012t0003g0347 a0001c0016t0014g0343 a0001c0023t0007g0090 a0001c0041t0004g0172 a0001c0041t0007g0097 a0001c0095t0011g0344 a0001c0096t0033g0175 a0001c0105t0015g0345 a0001c0116t0004g0171 a0001c0120t0057g0134 a0001c0155t0003g0179 a0002c0022t0003g0170 a0002c0030t0004g0169 a0002c0032t0004g0173 a0002c0034t0004g0148 a0002c0054t0002g0020 a0002c0054t0002g0023 a0002c0081t0003g0133 a0002c0152t0002g0019 a0011c0090t0011g0357 a0011c0138t0011g0353 a0012c0084t0003g0356 a0014c0107t0004g0135 a0022c0091t0003g0358	35	363	0.0964	434	c.-48 others(451): Show c.-48+8890_-48+8891insAGGCAGAAAGAGACAGAGACGGAGAGAG AGACAGAGGCAGAGAGAGACAGACAGAGGCAGAGGCAGAGACAGAAATAG ACAGAGGCAGAGAGAGACACAGGCAGAGACAGAGAGAGACAGAGACAGAG ACAGGCAGAGAGACAGAGGCAGAGACAGAGACAGGCAGAGACAGAGGCAG AGAGAGACAGAGACAGAGGCAGAGAGAGACAGAGGGAGGCAGAGACAGAG GCAGAGGCAGAGACAGAAGCAGAGGGAGGCAGAGGGAGACAGACAGAGGC AGAGACAGAGGCAGAGAGAGACAGGCAGAGACAGAGGCAGAGGCAGAGAC AGAGATAGAGGCAGAGAGAGATACAGGCAGAGACAGAGACAGAGAGACAG AGACAGGCAGAGAGATACAGAGAGACAGAGGCAGAGAGACAGAGACAGAG ACAGAG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP11A_chr13_112685038_112892168	112767303	G G	GATGTGGG others(427): Show GATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGATGTGGGGGT GTTGGGGGCCCCTGTGGGAAGGTGGGGAGATGTGGGGGTGTTGGGGGCCC CTGTGGGAAGGTGGGGAGGATGTGGGGGCGTTGGGGGCCCCTGTGGGAAG GTGGGGAGGATGTGGGGGCGTTGGGGGCCCCTGTGGGAAGGTGGGGAGAT GTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTGTGGGAGTGC TGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTGGGGGCGTTGGGGGCCCC TGTGGGAAGGTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGT GGGGAGGGTGTGGGAGTGCTGGGGGCCCCTGTGGGAAGGTGGGGAGGATG TGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0110 a0001c0002t0007g0110	1	254	0.0039	434	c.40- others(451): Show c.40-17832_40-17831insATGTGGGGGTGTTGGGGGCCCCTGTGGG AAGGTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAG ATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTGGGGGC GTTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTGGGGGCGTTGGGGGCC CCTGTGGGAAGGTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAG GTGGGGAGGGTGTGGGAGTGCTGGGGGCCCCTGTGGGAAGGTGGGGAGGA TGTGGGGGCGTTGGGGGCCCCTGTGGGAAGGTGGGGAGATGTGGGGGTGT TGGGGGCCCCTGTGGGAAGGTGGGGAGGGTGTGGGAGTGCTGGGGGCCCC TGTGGGAAGGTGGGGAGGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGG TGGGGA	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29			chr13	TogoVar
ATP9B_chr18_79064394_79383283	79336125	C C	CGCTCCCC others(427): Show CGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTC CCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACC CACCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACC GCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCC GTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCG CTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCC TGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCT CCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0183 a0002c0002t0002g0183	1	298	0.0034	434	c.202 others(451): Show c.2029-463_2029-462insCATGCCCTCCCTGGCACCAGGTGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCACCATGCCCTCCCTGGCA CCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATG CCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGT GCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCA GCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCT CGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACC AGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCC CTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGC ACCCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336167	G G	GTGCCCTC others(427): Show GTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCACCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCAT GCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCC AGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCC TCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	298	0.0034	434	c.202 others(451): Show c.2029-442_2029-441insTGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCACCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGT CCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCT CCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTG GCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCC ATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGC ACCAGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336167	G G	GTGCCCTC others(427): Show GTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGT GCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCC AGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCC TCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCA	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18979.hp1 NA19091.hp2 HG02074.hp2 NA18979.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040	3	298	0.0101	434	c.202 others(451): Show c.2029-442_2029-441insTGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGT CCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCT CCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTG GCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCC GTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGC ACCAGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
BHLHA9_chr17_1265444_1276815	1276785	T T	TCAAAAAA others(427): Show TCAAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGTTGCTGAGGCTGGA GTGCAGTGGCGTGATCATGGCTCACTGCAACGTCAAACTTCTGGACTCAA GTGATCCTCCTGAACAGCAGGGACTATAAGTGCCTGGCTTGAAACCCAGT TTTTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTCTCTCTCTGTCGCCC AGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTGCC AGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAG GTGCGTGCCACCACACCTGGCAATTTTTTTGTATTTTTAGTAGAAAGGGC ATTTCACTGTGTTGACCAGGGTGATCTCGATCTCCTGGCCTCGTGATCTG CCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG04204.hp2 NA18957.hp1 others(1): Show HG03942.hp2 HG04204.hp2 NA18957.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	442	0.0091	434	c.55 others(445): Show c.5514_*5515insCAAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCT GTTGCTGAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTGCAACGTCA AACTTCTGGACTCAAGTGATCCTCCTGAACAGCAGGGACTATAAGTGCCT GGCTTGAAACCCAGTTTTTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGT CTCTCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTG CAACCTCCGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGATTACAGGTGCGTGCCACCACACCTGGCAATTTTTTTGTATT TTTAGTAGAAAGGGCATTTCACTGTGTTGACCAGGGTGATCTCGATCTCC TGGCCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding		4971		chr17	TogoVar
BHLHA9_chr17_1265444_1276815	1276785	T T	TCAAAAAA others(427): Show TCAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGTTGCTGAGGCTGGAG TGCAGTGGCGTGATCATGGCTCACTGCAACGTCAAACTTCTGGACTCAAG TGATCCTCCTGAACAGCAGGGACTATAAGTGCCTGGCTTGAAACCCAGTT TTTTTTTGTTTTTTGTTTTTTTTTTGAGACAAAGTCTCTCTCTGTCGCCC AGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTGCC AGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAG GTGCGTGCCACCACACCTGGCAATTTTTTTGTATTTTTAGTAGAAAGGGC ATTTCACTGTGTTGACCAGGGTGATCTCGATCTCCTGGCCTCGTGATCTG CCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG03139.hp2 NA18975.hp1 others(2): Show HG02135.hp1 HG03139.hp2 NA18975.hp1 NA18979.hp1 NA19000.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0001 a0001c0001t0003 a0003c0010t0001 a0001c0001t0001 a0001c0001t0003 a0003c0010t0001	a0001c0001t0001g0000 a0001c0001t0003g0000 a0003c0010t0001g0000 a0001c0001t0001g0000 a0001c0001t0003g0000 a0003c0010t0001g0000	5	442	0.0113	434	c.55 others(445): Show c.5514_*5515insCAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTG TTGCTGAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTGCAACGTCAA ACTTCTGGACTCAAGTGATCCTCCTGAACAGCAGGGACTATAAGTGCCTG GCTTGAAACCCAGTTTTTTTTTGTTTTTTGTTTTTTTTTTGAGACAAAGT CTCTCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTG CAACCTCCGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGATTACAGGTGCGTGCCACCACACCTGGCAATTTTTTTGTATT TTTAGTAGAAAGGGCATTTCACTGTGTTGACCAGGGTGATCTCGATCTCC TGGCCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding		4971		chr17	TogoVar
BHLHA9_chr17_1265444_1276815	1276785	T T	TCAAAAAA others(427): Show TCAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGTTGCTGAGGCTGGAGT GCAGTGGCGTGATCATGGCTCACTGCAACGTCAAACTTCTGGACTCAAGT GATCCTCCTGAACAGCAGGGACTATAAGTGCCTGGCTTGAAACCCAGTTT TTTTTTGTTTTTTGTTTTTTTTTTTGAGACAAAGTCTCTCTCTGTCGCCC AGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTGCC AGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAG GTGCGTGCCACCACACCTGGCAATTTTTTTGTATTTTTAGTAGAAAGGGC ATTTCACTGTGTTGACCAGGGTGATCTCGATCTCCTGGCCTCGTGATCTG CCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0000 a0004c0006t0001g0000	1	442	0.0023	434	c.55 others(445): Show c.5514_*5515insCAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGT TGCTGAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTGCAACGTCAAA CTTCTGGACTCAAGTGATCCTCCTGAACAGCAGGGACTATAAGTGCCTGG CTTGAAACCCAGTTTTTTTTTGTTTTTTGTTTTTTTTTTTGAGACAAAGT CTCTCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTG CAACCTCCGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGATTACAGGTGCGTGCCACCACACCTGGCAATTTTTTTGTATT TTTAGTAGAAAGGGCATTTCACTGTGTTGACCAGGGTGATCTCGATCTCC TGGCCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding		4971		chr17	TogoVar
C1QTNF12_chr1_1237453_1251722	1245158	C C	CCTCTGCC others(427): Show CCTCTGCCCTCCTCCCCCTTCCCCCTCCTCCCCCCACTCCTCTCCCCTCT TCCCCCGACTCCTTCCCCTACTCATCTCCCTCCTCCCCCACTCCTCTCCC CTCCTCTCCCACTCCTCCCCCTCCTCCCCCACTCCTCCCCCCACTGCTCT CCCCCTCTTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCCTTCTCCACT CCTCTCCCCTCCCACTCCTCCCCCACTCCTGTCCCCTCCTCCCCCCTCTT CCCCCTCCTCCCCCCACTCCTCATCTCCCTCCTCCCCACTCCTCTCCCCT CTTCCCCCCACTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCTTGCCCC CACTCCTCCCCCACTCCTTCCCCACTCCTCTCCTCTCTTCCCCCCACTCC TCCCCCACTCCTCTCCCCTCCTCCCCCACTCCTCT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	328	0.0031	434	c.178 others(449): Show c.178-662_178-661insAGAGGAGTGGGGGAGGAGGGGAGAGGAGTG GGGGAGGAGTGGGGGGAAGAGAGGAGAGGAGTGGGGAAGGAGTGGGGGAG GAGTGGGGGCAAGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGGAGTGGGG GGAAGAGGGGAGAGGAGTGGGGAGGAGGGAGATGAGGAGTGGGGGGAGGA GGGGGAAGAGGGGGGAGGAGGGGACAGGAGTGGGGGAGGAGTGGGAGGGG AGAGGAGTGGAGAAGGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGGAAGA GGGGGAGAGCAGTGGGGGGAGGAGTGGGGGAGGAGGGGGAGGAGTGGGAG AGGAGGGGAGAGGAGTGGGGGAGGAGGGAGATGAGTAGGGGAAGGAGTCG GGGGAAGAGGGGAGAGGAGTGGGGGGAGGAGGGGGAAGGGGGAGGAGGGC AGAG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGCGGG others(427): Show AGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGG AGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAG GGCGGGACGGAGGGCGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGG AGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGACGGAGGGAG GGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGA GGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGG GAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAG GGATGGAGGGAGGGAGGGCGGGACGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03942.hp1 HG03688.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0289 a0002c0002t0001g0290	2	410	0.0049	434	c.465 others(449): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCTCCCTC CATCCCTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCT CCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCC CTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTC CCTCCCTCCCTCCGTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCC TCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCGCCCTCCGTC CCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCG TCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTC CCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCC GCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CACNG7_chr19_53904278_53948950	53921768	T T	TCCCCAGG others(427): Show TCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGC AGTTGTCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTCAT TGGTGGAGTTGTCCCCAGGCCTGGTCATTGGTGGAGTTGTCCCAGGTCTG GCCATTGGTGGAGTTGTCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGT CTGGTCATTGGTGGAGTTGTCCCAGGTCTGGTCATTGGTGGAGTTGTCCC AGGCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGT CCCAGGTCTGGTCATTGGTGCAGTTGCCCCAGGTCTGGTCATTGGTGGAG TTGTCCCAGGCCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTCATTGG TGGAGTTGTCCCAGGCTGGTCATTGGTGGAGTTGC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0233 a0001c0001t0010g0233	1	364	0.0028	434	c.424 others(451): Show c.424+6266_424+6267insCAGGTCTGGTCATTGGTGGAGTTGCCCC AGGTCTGGTCATTGGTGCAGTTGTCCCCAGGTCTGGTCATTGGTGGAGTT GTCCCCAGGCCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTCATTGGT GGAGTTGTCCCAGGTCTGGCCATTGGTGGAGTTGTCCCAGGCTGGTCATT GGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGTCTGGT CATTGGTGGAGTTGTCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGTCT GGTCATTGGTGGAGTTGTCCCAGGTCTGGTCATTGGTGCAGTTGCCCCAG GTCTGGTCATTGGTGGAGTTGTCCCAGGCCTGGTCATTGGTGGAGTTGTC CCCAGGCCTGGTCATTGGTGGAGTTGTCCCAGGCTGGTCATTGGTGGAGT TGCCCC	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAPN15_chr16_522712_559636	544774	A A	ACGTCGCC others(427): Show ACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGT CTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGT CGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACG TCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGC CTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTC ACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0326 a0001c0008t0001g0326	1	410	0.0024	434	c.-22 others(451): Show c.-22-2038_-22-2037insCCGTCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCC CCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGT CGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTC GCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACG TCGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC77_chr12_396644_447642	419877	G G	GTGTGTGT others(427): Show GTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCA TGCTCCATTACAGTGCTCTTCTGTGTGTGCTGGGAGTGAGAGGGTAAAAT ACACATAGCAGCACACTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGT GTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACACTCCATGCTCC ATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACAC ACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAACACACATAGCAGCACACTCCATGCTCCATT ACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACAT AGCAGCACCCTCCATGTTCCATTACAGTGCTCTTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp1 HG02257.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0404 a0001c0001t0001g0258 a0001c0001t0001g0404	2	432	0.0046	434	c.413 others(451): Show c.413+1269_413+1270insCACACATAGCAGCACCCTCCATGCTCCA TTACAGTGCTCTTCTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATA GCAGCACACTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGG GAGTGAGAGGGTAAAACACACATAGCAGCACACTCCATGCTCCATTACAG TGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGC AGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGA GTGAGAGGGTAAACACACATAGCAGCACACTCCATGCTCCATTACAGTGC ACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCA CCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGCTGGGAGTGAGAGG GTAAAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(427): Show CACTATATATAGTAGTTATATATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTTTATATATACTATATA TAAACTATATATAGTAGTTATATATACTACTATATATACTACTATATATA GTATATACTATATATACACTATATATAGTAGTATATATACTACTATATAT ACTACTATATATAGTATATACTATATATACACTATATATACACTATATAT AGCATATATACTATATATACACTATATATAGTAGTTATATATACTATATA TACACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTT ATATATACTATATATACTATATATAGTTTATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG01123.hp2 others(13): Show HG00642.hp1 HG00741.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01496.hp1 HG01516.hp1 HG01934.hp2 HG02300.hp2 HG02683.hp1 HG03654.hp1 HG03710.hp1 HG04199.hp1 HG04204.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0002c0004t0004 a0001c0001t0001 a0001c0001t0002 a0002c0004t0004	a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0061 others(11): Show a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0151 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0002g0029 a0002c0004t0004g0074	16	396	0.0404	434	c.349 others(449): Show c.349+948_349+949insTACACTATATAGTAGTTATATATACTACAT ATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTA GTTATATATACTATATATACACTATATATAGTTTATATATACTATATATA AACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAGT ATATACTATATATACACTATATATAGTAGTATATATACTACTATATATAC TACTATATATAGTATATACTATATATACACTATATATACACTATATATAG CATATATACTATATATACACTATATATAGTAGTTATATATACTATATATA CACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTTAT ATATACTATATATACTATATATAGTTTATATATACTATATATAGTAGTTA TATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(427): Show CACTATATATAGTAGTTATATATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTTTATATATACTATATA TACACTATATATAGTAGTTATATATACTACTATATATACTACTATATATA GTATATACTATATATACACTATATATAGTAGTATATATACTACTATATAT ACTACTATATATAGTATATACTATATATACACTATATATACACTATATAT AGCATATATACTATATATACACTATATATAGTAGTTATATATACTATATA TACACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTT ATATATACTATATATACTATATATAGTTTATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0344 a0001c0001t0001g0344	1	396	0.0025	434	c.349 others(449): Show c.349+948_349+949insTACACTATATAGTAGTTATATATACTACAT ATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTA GTTATATATACTATATATACACTATATATAGTTTATATATACTATATATA CACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAGT ATATACTATATATACACTATATATAGTAGTATATATACTACTATATATAC TACTATATATAGTATATACTATATATACACTATATATACACTATATATAG CATATATACTATATATACACTATATATAGTAGTTATATATACTATATATA CACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTTAT ATATACTATATATACTATATATAGTTTATATATACTATATATAGTAGTTA TATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(427): Show CACTATATATAGTAGTTATATATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTTTATATATACTATATA TACACTATATATAGTAGTTATATATACTACTATATATACTACTATATATA GTATATACTATATATACACTATATATAGTAGTATATATACTACTATATAT ACTACTATATATAGTATATACTATATATACACTATATATACACTATATAT AGCATATATACTATATATACACTATATATAGTAGTTATATATACTATATA TACACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTT ATATATACTATATATAGTTTATATATACTATATAT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0183 a0001c0005t0001g0183	1	396	0.0025	434	c.349 others(449): Show c.349+948_349+949insTACACTATATAGTAGTTATATATACTACAT ATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTA GTTATATATACTATATATACACTATATATAGTTTATATATACTATATATA CACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAGT ATATACTATATATACACTATATATAGTAGTATATATACTACTATATATAC TACTATATATAGTATATACTATATATACACTATATATACACTATATATAG CATATATACTATATATACACTATATATAGTAGTTATATATACTATATATA CACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTTAT ATATACTATATATAGTTTATATATACTATATATACTATATATAGTAGTTA TATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(427): Show TATATACACACGTGTGTATATACGTATATACACACGTGTGTATATACGTA TATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTATA CACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATA CGCATACACACATATATGTGTGTGTATACGCATACACACACATATATGTG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACA CACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG TATACGCATACACACATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	442	0.0023	434	c.27 others(445): Show c.2768_*2769insATATACACACGTGTGTATATACGTATATACACAC GTGTGTATATACGTATATACACAAGTGTGTATATACGTATATACACAAGT GTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACACAT ATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATAC ACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(427): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAAATATAAAATAAATATTTATTTAATATATAAAATAAATA TTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATT TATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATT TTATTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	402	0.0025	434	c.80- others(449): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAAATATAAAATAAATATTTATTTAATATATAAAATAAATATTTA TTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTATT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTAT TTATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAA AATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251530	A A	AATATATA others(427): Show AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTTTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATA TTTTATTTATTTATTTTAATATATAAAATATTTAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03453.hp2 HG02723.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0011 a0001c0001t0009 a0001c0001t0011	a0001c0001t0009g0301 a0001c0001t0011g0302 a0001c0001t0009g0301 a0001c0001t0011g0302	2	402	0.0050	434	c.80- others(449): Show c.80-4979_80-4978insATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTTTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTATTTATT TATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAAAATAT TTAT	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5			chr21	TogoVar
CHST13_chr3_126519155_126548291	126539862	C C	CCAAACCA others(427): Show CCAAACCACACATGGACCCTCCACACACCACACACACACCACACATTCCA CACAAGCACACTACACCACACAAGCACACCACACGCATACCACACAAAAA TGCCACACATTCCCACACACCACAAACACACCACCCACATGACACACACT ACACACACACCACACACCATATATGCCACACACAACACACACAACACACG CTACACACACACCCCATACACACACACCACACACACCAGACACACACAAA CACCACACACACCAGACACAACACACAACACACACACACCACAGGTGTGC ACCACACACACACCACATGCACACACACACACCACCTACCAAAAGTGTGC ACCACACGCACCACGTGCATACCAACACACACCACACACACCAGACACAC CACACACACACCACACACACTCCATACACATACAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02300.hp1 HG02717.hp1 others(4): Show HG01884.hp1 HG02300.hp1 HG02717.hp1 HG02818.hp2 HG02895.hp1 HG02970.hp1 NA19030.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0006c0008t0001 a0001c0001t0001 a0006c0008t0001	a0001c0001t0001g0027 a0001c0001t0001g0090 a0001c0001t0001g0101 others(2): Show a0001c0001t0001g0027 a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0122 a0006c0008t0001g0011	7	364	0.0192	434	c.181 others(451): Show c.181-1869_181-1868insAACCACACATGGACCCTCCACACACCAC ACACACACCACACATTCCACACAAGCACACTACACCACACAAGCACACCA CACGCATACCACACAAAAATGCCACACATTCCCACACACCACAAACACAC CACCCACATGACACACACTACACACACACCACACACCATATATGCCACAC ACAACACACACAACACACGCTACACACACACCCCATACACACACACCACA CACACCAGACACACACAAACACCACACACACCAGACACAACACACAACAC ACACACACCACAGGTGTGCACCACACACACACCACATGCACACACACACA CCACCTACCAAAAGTGTGCACCACACGCACCACGTGCATACCAACACACA CCACACACACCAGACACACCACACACACACCACACACACTCCATACACAT ACAACA	CHST13	ENSG00000180767.11	transcript	ENST00000319340.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHST13_chr3_126519155_126548291	126539862	C C	CCAAACCA others(427): Show CCAAACCACACATGGACCCTCCACACACCACACACACACCACACATTCCA CACAAGCACACTACACCACACAAGCACACCACACGCATACCACACAAAAA TGCCACACATTCCCACACACCACAAACACATCACCCACATGACACACACT ACACACACACCACACACCATATATGCCACACACAACACACACAACACACG CTACACACACACCCCATACACACACACCACACACACCAGACACACACAAA CACCACACACACCAGACACAACACACAACACACACACACCACAGGTGTGC ACCACACACACACCACATGCACACACACACACCACCTACCAAAAGTGTGC ACCACACGCACCACGTGCATACCAACACACACCACACACACCAGACACAC CACACACACACCACACACACTCCATACACATACAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG01071.hp1 others(37): Show HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01496.hp1 HG01978.hp1 HG02040.hp1 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG04184.hp1 HG04204.hp1 NA18942.hp1 NA18943.hp2 NA18963.hp2 NA18977.hp2 NA18983.hp1 NA18990.hp1 NA19070.hp1 NA19080.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0018 others(10): Show a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0066 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0118 a0001c0001t0005g0079	40	364	0.1099	434	c.181 others(451): Show c.181-1869_181-1868insAACCACACATGGACCCTCCACACACCAC ACACACACCACACATTCCACACAAGCACACTACACCACACAAGCACACCA CACGCATACCACACAAAAATGCCACACATTCCCACACACCACAAACACAT CACCCACATGACACACACTACACACACACCACACACCATATATGCCACAC ACAACACACACAACACACGCTACACACACACCCCATACACACACACCACA CACACCAGACACACACAAACACCACACACACCAGACACAACACACAACAC ACACACACCACAGGTGTGCACCACACACACACCACATGCACACACACACA CCACCTACCAAAAGTGTGCACCACACGCACCACGTGCATACCAACACACA CCACACACACCAGACACACCACACACACACCACACACACTCCATACACAT ACAACA	CHST13	ENSG00000180767.11	transcript	ENST00000319340.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575597	T T	CGTATATA others(427): Show CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTA TATACACGTATATATACTCATATACGTGTGTATATACACGTATATATACT CATATACGTGTGTATATACACGTATATATACTCATATACGTGTGTATATA CACGTATATATACTCATATACGTGTGTATATACGT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	372	0.0027	434	c.894 others(449): Show c.894+674_894+675insCGTATATACACACGTATATGAGTATATATA CGTGTATATACACACGTATATGAGTATATATACGTGTATATACACACGTA TATGAGTATATATACGTGTATATACACACGTATATGAGTATATATACGTG TATATACACACATGTATATGAGTATATATACGTGTATATACACACATGTA TATGAGTATATATACGTGTATATACACACATGTATATGAGTATATATACG TGTATATACACACATGTATATGAGTATATATACGTGTATATACACACATG TATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATATA CGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACACA TGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATA TACG	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CLDN8_chr21_30209006_30221097	30210574	A A	ATATATAT others(427): Show ATATATATATATATATATATATATATATATAGTCTCCCTAATTCTAATTC AAGGTATATATATATATATATATAGTCTCCCTAATTGTAATTCAAGGTAC GTATGTATATATATATATATATATATATATATATATATATATATATAGTC TCCCTAATTCTAATTCAAGGTACATATATATATATATATATATATAGTCT CCCTAATTCTAATTCAAGGTACATATATATATATATATATATATATATAT AGTCTCCCTAATTCTAATTCAAGGTACATATATATATATATATATATATA GTCTCCCTAATTCTAATTCAAGGTACATATATATATATATATATAGTCTC CCGAATTCTAATTCAAGGTACATATATATATATATATATATATATATATA TATATATATATAGTCTCCCTAATTCTAATTCAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	466	0.0022	434	c.46 others(445): Show c.4673_*4674insCCTTGAATTAGAATTAGGGAGACTATATATATAT ATATATATATATATATATATATATATATATGTACCTTGAATTAGAATTCG GGAGACTATATATATATATATATATGTACCTTGAATTAGAATTAGGGAGA CTATATATATATATATATATATATGTACCTTGAATTAGAATTAGGGAGAC TATATATATATATATATATATATATATATGTACCTTGAATTAGAATTAGG GAGACTATATATATATATATATATATATGTACCTTGAATTAGAATTAGGG AGACTATATATATATATATATATATATATATATATATATATATATACATA CGTACCTTGAATTACAATTAGGGAGACTATATATATATATATATATACCT TGAATTAGAATTAGGGAGACTATATATATATATATATATATATATATATA	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3431		chr21	TogoVar
COL23A1_chr5_178232618_178595393	178585576	C C	CACGTCCC others(427): Show CACGTCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCT GGGGTAACACTCCACAGCCCTGGTTGGCGCTGGGGTAATGCCCTACAGCC CTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAA CACTCCACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGTTG GCGCTGGGGTAATGCCCTACAGCCCTGGTTGGCGCTGGGGTAATGCCCTA CAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGG GGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCT GGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAACG CCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03453.hp1 HG02451.hp1 HG03453.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0139 a0004c0006t0003g0143 a0004c0006t0003g0139 a0004c0006t0003g0143	2	236	0.0085	434	c.294 others(451): Show c.294+4327_294+4328insAGGGCGTTACCCCAGCGCCATCCAGGGC TGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGC GCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTAGGG CGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCC AGGGCTGTAGGGCATTACCCCAGCGCCAACCAGGGCTGTAGGGCATTACC CCAGCGCCAACCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTG TGGAGTGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGC CATCCAGGGCTGTAGGGCATTACCCCAGCGCCAACCAGGGCTGTGGAGTG TTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAG GGACGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178585669	C C	CACAGCCC others(427): Show CACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCACTGGATGGCGCT GGGGTAACGCCCTACAGCACTGGATGGCGCTGGGGTAACGCCCTACAGCA CTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAA CGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCACTGGATG GCGCTGGGGTAACGCCCTACAGCACTGGATGGCGCTGGGGTAACACTCCA CAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGG GGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCT GGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATG CCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0166 a0001c0001t0003g0166	1	236	0.0042	434	c.294 others(451): Show c.294+4234_294+4235insAGGGCATTACCCCAGCGCCATCCAGGGC TGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGC GCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGG CATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCC AGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGTGCTGTAGGGCGTTACC CCAGCGCCATCCAGTGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTG TAGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGC CATCCAGTGCTGTAGGGCGTTACCCCAGCGCCATCCAGTGCTGTAGGGCG TTACCCCAGCGCCATCCAGTGCTGTAGGGCGTTACCCCAGCGCCATCCAG GGCTGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178585731	C C	CACAGCCC others(427): Show CACAGCCCTGGTTGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCT GGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCC CTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAA CGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATG GCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCTCCA CAGCCCTGGATGGCGCTGGGGTAACGCTCCACAGCCCTGGATGGCGCTGG GGTAACGCTCCACAGCCCTGGATGGCGCTGGGGTAACGCTCCACAGCCCT GGATGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAACA CTCCACAGCCCTGGATGGCGCTGGGGTAATGCCCT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0063 a0001c0001t0004g0063	1	236	0.0042	434	c.294 others(451): Show c.294+4172_294+4173insAGGGCATTACCCCAGCGCCATCCAGGGC TGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGC GCCATCCAGGGCTGTGGAGCGTTACCCCAGCGCCATCCAGGGCTGTGGAG CGTTACCCCAGCGCCATCCAGGGCTGTGGAGCGTTACCCCAGCGCCATCC AGGGCTGTGGAGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACC CCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTG TAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGC CATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTGGAGTG TTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCAACCAG GGCTGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL5A1_chr9_134636803_134849843	134729648	A A	ATGCGGGC others(427): Show ATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGT GTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGT GAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGC GTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGT GTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCT GTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGT GTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCACGGGTGTGCATGAGC CTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGA GCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0042 a0001c0002t0042	a0001c0002t0042g0185 a0001c0002t0042g0185	1	272	0.0037	434	c.925 others(449): Show c.925-533_925-532insGTGCGGGCACGGGTGTGCATGAGCCTGTGT GTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGC CTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGC ATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGG GTGTGCATGAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGT GCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCAC GGGTGTGCATGAGCCTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGC ACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGT GCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGT GTGC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CPNE7_chr16_89570758_89602246	89587909	G G	GCCCCCGT others(427): Show GCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCA CCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCCGT GTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGA TACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCC CGTGTTACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCC CCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACG GCCCCCCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCACAGATAC ACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGA TACACGGCCCCCCGTGTTACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	348	0.0029	434	c.928 others(449): Show c.928-757_928-756insTACCCACAGATACACGGCCCCCCGTGTCAC CCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACAC GGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGT TACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATA CACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCACAG ATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCA CAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCGTGTCAC CCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGT CACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCC GTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRTC3_chr15_90524923_90650345	90647293	C C	CCTCCTCT others(427): Show CCTCCTCTGCCACACCCCTACTCCTCCTCACCCATCCTCCTCCACACCCC TTCTAGTCCACCACTCCCCCCTCCTCCTCCACAATCCTCCTCCACACCCC TCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCAC ACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCC ACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCT CCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAATC CTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCTTATTCCACACCCCT CCTCCTCCAACCCCTCCTCCAAAGCCCTCCTTCTCCTCCACACCCCTCCA AATTCCACAGCCCTCCTCCACCTCTACACCCACTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0205 a0001c0007t0001g0205	1	276	0.0036	434	c.51 others(445): Show c.5153_*5154insCTCCTCTGCCACACCCCTACTCCTCCTCACCCAT CCTCCTCCACACCCCTTCTAGTCCACCACTCCCCCCTCCTCCTCCACAAT CCTCCTCCACACCCCTCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCC TCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCT CCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTC CTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACAC CCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTC TTATTCCACACCCCTCCTCCTCCAACCCCTCCTCCAAAGCCCTCCTTCTC CTCCACACCCCTCCAAATTCCACAGCCCTCCTCCACCTCTACACCCACTG	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1949		chr15	TogoVar
CYP4F12_chr19_15668087_15702174	15676973	C C	CCACACAC others(427): Show CCACACACTCATTCCTCTCCTCACTCACTCGTTCCTCTCCTCACTCACTC ATTCCTCTCCTCACTCACTCATTCCTTTACCCACACACTCATTCCTCACT CACTCGTTCATCTACCCACTCAACCTTTCCTCTTGTCATGTACTCATTCC TCTACCCACACACTCATTCCTCTCCTCACTCACTCATTCCTCTACCCATG CACTCATTCCTCTCACTCATTCCTTCCTCTCCTCACTCACTCATTCTTCT GCTCACTCAATCATTCCTTCCTCTCCTCACTCACTCATTCTTCTGCTCAC TCACTCATTCCTCTACCCGTGCACCCACTCCTCTCCTCACTCATTCCTTC CTCTCCTCACTCACTCATTCTTCTGCTCGCTCACTCATTCCTCTGCTCAC TCTCATTCCTCTCCTCACTCACTCATTCCTCTCTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03540.hp1 HG02615.hp1 HG03540.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0004 a0005c0007t0004	a0005c0007t0004g0208 a0005c0007t0004g0209 a0005c0007t0004g0208 a0005c0007t0004g0209	2	410	0.0049	434	c.199 others(451): Show c.199-1286_199-1285insCACACTCATTCCTCTCCTCACTCACTCG TTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCCTTTACC CACACACTCATTCCTCACTCACTCGTTCATCTACCCACTCAACCTTTCCT CTTGTCATGTACTCATTCCTCTACCCACACACTCATTCCTCTCCTCACTC ACTCATTCCTCTACCCATGCACTCATTCCTCTCACTCATTCCTTCCTCTC CTCACTCACTCATTCTTCTGCTCACTCAATCATTCCTTCCTCTCCTCACT CACTCATTCTTCTGCTCACTCACTCATTCCTCTACCCGTGCACCCACTCC TCTCCTCACTCATTCCTTCCTCTCCTCACTCACTCATTCTTCTGCTCGCT CACTCATTCCTCTGCTCACTCTCATTCCTCTCCTCACTCACTCATTCCTC TCTTCA	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar

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Search Results (Total: 10000 hits)